#ClinGen Gene Curation Results #16 May,2021 #Genomic Locations are reported on GRCh38 (hg38): GCF_000001405.36 #https://www.ncbi.nlm.nih.gov/projects/dbvar/clingen #to create link: https://www.ncbi.nlm.nih.gov/projects/dbvar/clingen/clingen_gene.cgi?sym=Gene Symbol #Gene Symbol Gene ID cytoBand Genomic Location Haploinsufficiency Score Haploinsufficiency Description Haploinsufficiency PMID1 Haploinsufficiency PMID2 Haploinsufficiency PMID3 Haploinsufficiency PMID4 Haploinsufficiency PMID5 Haploinsufficiency PMID6 Triplosensitivity Score Triplosensitivity Description Triplosensitivity PMID1 Triplosensitivity PMID2 Triplosensitivity PMID3 Triplosensitivity PMID4 Triplosensitivity PMID5 Triplosensitivity PMID6 Date Last Evaluated Loss phenotype OMIM ID Triplosensitive phenotype OMIM ID A4GALT 53947 22q13.2 chr22:42692115-42721301 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2014-12-11 111400 AAGAB 79719 15q23 chr15:67200667-67255198 3 Sufficient evidence for dosage pathogenicity 23064416 23000146 0 No evidence available 2013-02-28 148600 AARS 16 16q22.1 chr16:70252295-70289552 0 No evidence available 0 No evidence available 2018-01-11 ABCB11 8647 2q31.1 chr2:168915468-169031396 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2020-07-08 ABCC8 6833 11p15.1 chr11:17392498-17476849 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2012-02-24 256450 ABCD1 215 Xq28 chrX:153724851-153744755 3 Sufficient evidence for dosage pathogenicity 8040304 23835273 25835712 7825602 0 No evidence available 2020-12-02 300100 ABCG8 64241 2p21 chr2:43831942-43882988 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2016-08-22 ABHD12 26090 20p11.21 chr20:25294743-25390835 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2014-12-11 612674 ABR 29 17p13.3 chr17:1003519-1229722 0 No evidence available 0 No evidence available 2012-09-05 ACAD8 27034 11q25 chr11:134253538-134265858 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2014-12-11 611283 ACADM 34 1p31.1 chr1:75724709-75763679 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2016-08-22 201450 ACADVL 37 17p13.1 chr17:7217125-7225266 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2016-08-22 201475 ACD 65057 16q22.1 chr16:67657512-67660832 1 Little evidence for dosage pathogenicity 25505254 0 No evidence available 2019-10-09 ACOX1 51 17q25.1 chr17:75941507-75979199 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2014-11-20 264470 ACP5 54 19p13.2 chr19:11574660-11578983 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2016-08-22 607944 ACSF3 197322 16q24.3 chr16:89093847-89160556 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2016-08-22 614265 ACSL4 2182 Xq23 chrX:109641335-109733325 1 Little evidence for dosage pathogenicity 11889465 12525535 21584729 31481330 26350204 22581936 0 No evidence available 2021-04-28 300387 ACTA2 59 10q23.31 chr10:88935074-88991397 0 No evidence available 0 No evidence available 2015-10-15 ACTB 60 7p22.1 chr7:5527148-5530601 0 No evidence available 0 No evidence available 2015-02-05 ACTC1 70 15q14 chr15:34790230-34795549 1 Little evidence for dosage pathogenicity 17947298 24503780 0 No evidence available 2015-11-17 ACVRL1 94 12q13.13 chr12:51906913-51923361 3 Sufficient evidence for dosage pathogenicity 18312453 20414677 0 No evidence available 2016-11-10 600376 ADAM9 8754 8p11.22 chr8:38996767-39105261 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2014-12-11 612775 ADAMTS17 170691 15q26.3 chr15:99971437-100342924 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2016-08-22 613195 ADAMTS18 170692 16q23.1 chr16:77282128-77435034 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2016-08-22 615458 ADAMTS2 9509 5q35.3 chr5:179110853-179345461 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2016-08-22 225410 ADAMTSL2 9719 9q34.2 chr9:133532164-133575519 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2016-08-22 ADGRG1 9289 16q21 chr16:57619535-57665567 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2012-05-17 ADNP 23394 20q13.13 chr20:50888918-50931437 3 Sufficient evidence for dosage pathogenicity 24531329 25533962 0 No evidence available 2017-11-22 615873 ADSL 158 22q13.1 chr22:40346500-40387527 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2015-11-05 103050 AFF2 2334 Xq28 chrX:148500617-149000663 3 Sufficient evidence for dosage pathogenicity 22065534 21739600 8673085 0 No evidence available 2020-12-08 309548 AGK 55750 7q34 chr7:141551410-141662153 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2014-11-20 212350 AGPAT2 10555 9q34.3 chr9:136673143-136687457 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2016-08-22 608594 AGRN 375790 1p36.33 chr1:1020102-1056119 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2016-08-22 615120 AGT 183 1q42.2 chr1:230702523-230745583 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2014-11-13 267430 AGTR2 186 Xq23 chrX:116170744-116174974 0 No evidence available 0 No evidence available 2012-05-10 300852 AHCY 191 20q11.22 chr20:34235012-34311976 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2016-06-08 613752 AHDC1 27245 1p36.11-p35.3 chr1:27534245-27604178 3 Sufficient evidence for dosage pathogenicity 24791903 27148574 29230160 0 No evidence available 2018-02-28 615829 AHI1 54806 6q23.3 chr6:135283532-135497771 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2012-09-06 608629 AIMP1 9255 4q24 chr4:106315544-106349456 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2016-08-22 260600 AKT2 208 19q13.2 chr19:40230317-40285531 0 No evidence available 0 No evidence available 2015-05-07 AKT3 10000 1q43-q44 chr1:243488233-243851079 1 Little evidence for dosage pathogenicity 0 No evidence available 2016-04-14 ALDH1A3 220 15q26.3 chr15:100879831-100916626 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2016-08-22 615113 ALDH4A1 8659 1p36.13 chr1:18871430-18902580 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2015-04-09 239510 ALDH5A1 7915 6p22.3 chr6:24494969-24537207 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2016-08-22 271980 ALG12 79087 22q13.33 chr22:49860163-49918469 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2016-08-22 607143 ALK 238 2p23.2-p23.1 chr2:29190992-29921589 0 No evidence available 0 No evidence available 2019-12-20 ALMS1 7840 2p13.1 chr2:73385758-73609919 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2016-08-22 ALS2 57679 2q33.1 chr2:201700267-201781153 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2016-08-22 203800 ALX4 60529 11p11.2 chr11:44260440-44310139 3 Sufficient evidence for dosage pathogenicity 11137991 11106354 16319823 0 No evidence available 2020-07-22 609597 AMN 81693 14q32.32 chr14:102922430-102933597 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2016-08-22 261100 ANK2 287 4q25-q26 chr4:112705622-113383736 3 Sufficient evidence for dosage pathogenicity 25363760 22542183 25363768 0 No evidence available 2019-05-22 ANKRD11 29123 16q24.3 chr16:89267619-89490561 3 Sufficient evidence for dosage pathogenicity 21782149 23494856 21654729 0 No evidence available 2013-06-20 148050 ANKRD26 22852 10p12.1 chr10:26938195-27100498 0 No evidence available 0 No evidence available 2021-04-14 ANTXR2 118429 4q21.21 chr4:79901146-80073472 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2016-08-22 228600 AP1S2 8905 Xp22.2 chrX:15825806-15854966 3 Sufficient evidence for dosage pathogenicity 17186471 17617514 18428203 23756445 30383884 25649377 0 No evidence available 2021-04-28 300630 AP4B1 10717 1p13.2 chr1:113894194-113905067 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2016-08-22 614066 AP4S1 11154 14q12 chr14:31025106-31096450 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2016-08-22 614067 APC 324 5q22.2 chr5:112707498-112846239 3 Sufficient evidence for dosage pathogenicity 12136240 19196998 0 No evidence available 2012-07-06 175100 APOB 338 2p24.1 chr2:21001429-21044073 3 Sufficient evidence for dosage pathogenicity 27179706 1527480 2843815 0 No evidence available 2020-04-09 615558 APP 351 21q21.3 chr21:25880550-26171128 0 No evidence available 2 Some evidence for dosage pathogenicity 16921174 2012-07-06 AR 367 Xq12 chrX:67544021-67730619 3 Sufficient evidence for dosage pathogenicity 22334387 27994190 30742848 0 No evidence available 2020-12-08 300068 ARCN1 372 11q23.3 chr11:118572396-118603033 2 Some evidence for dosage pathogenicity 27476655 0 No evidence available 2017-08-08 617164 ARFGEF2 10564 20q13.13 chr20:48921711-49036693 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2016-08-22 608097 ARG1 383 6q23.2 chr6:131573226-131584329 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2016-08-22 207800 ARHGAP31 57514 3q13.32-q13.33 chr3:119294289-119420714 0 No evidence available 0 No evidence available 2013-07-18 ARHGEF4 50649 2q21.1 chr2:130836914-131051514 0 No evidence available 0 No evidence available 2018-04-05 ARHGEF6 9459 Xq26.3 chrX:136665547-136780945 0 No evidence available 0 No evidence available 2012-04-25 ARHGEF9 23229 Xq11.1 chrX:63634967-63785546 2 Some evidence for dosage pathogenicity 21633362 18615734 0 No evidence available 2012-10-12 ARID1A 8289 1p36.11 chr1:26696015-26782104 3 Sufficient evidence for dosage pathogenicity 22426308 23929686 23906836 0 No evidence available 2020-05-27 614607 ARID1B 57492 6q25.3 chr6:156776026-157210779 3 Sufficient evidence for dosage pathogenicity 22426308 21801163 22405089 0 No evidence available 2012-09-06 135900 ARID2 196528 12q12 chr12:45729706-45908037 3 Sufficient evidence for dosage pathogenicity 29698805 26238514 28124119 0 No evidence available 2019-06-26 617808 ARL6 84100 3q11.2 chr3:97762581-97812585 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2016-08-22 ARSA 410 22q13.33 chr22:50622754-50628152 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2012-09-05 250100 ARSD 414 Xp22.33 chrX:2903972-2929345 0 No evidence available 0 No evidence available 2016-07-21 ARSE 415 Xp22.33 chrX:2934632-2968310 3 Sufficient evidence for dosage pathogenicity 12567415 18348268 0 No evidence available 2012-07-12 302950 ARX 170302 Xp21.3 chrX:25003694-25015965 3 Sufficient evidence for dosage pathogenicity 12379852 14722918 0 No evidence available 2019-12-05 300215 ASAH1 427 8p22 chr8:18055992-18084961 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2017-09-11 228000,159950 ASH1L 55870 1q22 chr1:155335263-155563160 3 Sufficient evidence for dosage pathogenicity 28191889 25363760 28263302 0 No evidence available 2017-12-27 ASPA 443 17p13.2 chr17:3473646-3503405 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2016-08-22 271900 ASPM 259266 1q31.3 chr1:197084127-197146669 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2016-08-22 608716 ASTN2 23245 9q33.1 chr9:116423112-117415057 1 Little evidence for dosage pathogenicity 24381304 32094338 21832240 19809473 18940311 30242134 0 No evidence available 2021-03-09 ASXL1 171023 20q11.21 chr20:32358062-32439319 3 Sufficient evidence for dosage pathogenicity 21706002 22419483 0 No evidence available 2013-03-14 605039 ASXL2 55252 2p23.3 chr2:25733753-25878487 0 No evidence available 0 No evidence available 2018-06-28 ASXL3 80816 18q12.1 chr18:33578219-33751195 3 Sufficient evidence for dosage pathogenicity 23383720 26647312 27901041 0 No evidence available 2017-11-22 615485 ATF6 22926 1q23.3 chr1:161766320-161964070 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2017-01-12 616517 ATM 472 11q22.3 chr11:108222484-108369102 3 Sufficient evidence for dosage pathogenicity 3574400 27595995 15928302 0 No evidence available 2020-04-08 208900 ATP10A 57194 15q12 chr15:25672241-25865144 0 No evidence available 0 No evidence available 2012-04-24 ATP2A1 487 16p11.2 chr16:28878488-28904466 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2016-08-22 601003 ATP2C2 9914 16q24.1 chr16:84368523-84465777 0 No evidence available 25296922 0 No evidence available 2018-09-17 ATP6AP2 10159 Xp11.4 chrX:40580970-40606848 0 No evidence available 0 No evidence available 2012-10-31 300423 ATP6V0A2 23545 12q24.31 chr12:123712353-123761755 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2016-08-22 ATP6V1E1 529 22q11.21 chr22:17592136-17628822 0 No evidence available 0 No evidence available 2012-04-26 ATP7A 538 Xq21.1 chrX:77910693-78050395 3 Sufficient evidence for dosage pathogenicity 14635105 32994893 0 No evidence available 2021-03-24 309400 ATP7B 540 13q14.3 chr13:51932669-52012130 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2017-01-12 277900 ATP8A2 51761 13q12.13 chr13:25371974-26025851 1 Little evidence for dosage pathogenicity 20683487 0 No evidence available 2014-10-10 ATPAF2 91647 17p11.2 chr17:18015059-18039168 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2016-08-22 604273 ATR 545 3q23 chr3:142449235-142578793 1 Little evidence for dosage pathogenicity 30159786 26556299 29439820 0 No evidence available 2020-06-05 614564 ATRX 546 Xq21.1 chrX:77504880-77786235 3 Sufficient evidence for dosage pathogenicity 7697714 0 No evidence available 2012-07-31 301040 AUTS2 26053 7q11.22 chr7:69598475-70793506 3 Sufficient evidence for dosage pathogenicity 22872102 23332918 23650183 0 No evidence available 2020-06-24 615834 AVPR2 554 Xq28 chrX:153902625-153907166 3 Sufficient evidence for dosage pathogenicity 10820168 23150186 29594432 0 No evidence available 2021-02-01 304800 AXIN2 8313 17q24.1 chr17:65528563-65561648 3 Sufficient evidence for dosage pathogenicity 15042511 21416598 28195393 0 No evidence available 2019-02-13 608615 B3GALT6 126792 1p36.33 chr1:1232237-1235041 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2016-08-22 B4GALT1 2683 9p21.1 chr9:33104077-33167336 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2016-08-22 607091 B4GALT7 11285 5q35.3 chr5:177600102-177610330 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2016-08-22 130070 B9D1 27077 17p11.2 chr17:19334695-19377913 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2016-08-22 BAG3 9531 10q26.11 chr10:119651380-119677819 3 Sufficient evidence for dosage pathogenicity 21353195 25008357 21459883 0 No evidence available 2015-02-12 603883 BAP1 8314 3p21.1 chr3:52401004-52410030 3 Sufficient evidence for dosage pathogenicity 21874000 21941004 21874003 0 No evidence available 2019-12-27 614327 BARD1 580 2q35 chr2:214725645-214809683 3 Sufficient evidence for dosage pathogenicity 20077502 20842729 21344236; 25994375 0 No evidence available 2020-05-01 BBS12 166379 4q27 chr4:122700437-122744943 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2016-08-22 615989 BBS5 129880 2q31.1 chr2:169479494-169506655 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2015-10-11 615983 BCL11A 53335 2p16.1 chr2:60450520-60553654 3 Sufficient evidence for dosage pathogenicity 27453576 25938782 25979662 0 No evidence available 2017-04-13 617101 BCL2L11 10018 2q13 chr2:111120914-111168445 0 No evidence available 0 No evidence available 2018-06-21 BCLAF1 9774 6q23.3 chr6:136256627-136289846 1 Little evidence for dosage pathogenicity 28263302 25262651 0 No evidence available 2018-06-28 BCOR 54880 Xp11.4 chrX:40051246-40177390 3 Sufficient evidence for dosage pathogenicity 19367324 15770227 0 No evidence available 2012-10-04 300166 BCR 613 22q11.23 chr22:23180509-23318037 0 No evidence available 0 No evidence available 2012-07-10 BCS1L 617 2q35 chr2:218659683-218663443 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2016-08-22 BLNK 29760 10q24.1 chr10:96189171-96271569 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2016-08-22 613502 BMP4 652 14q22.2 chr14:53949736-53956891 2 Some evidence for dosage pathogenicity 21340693 18252212 0 No evidence available 2012-04-04 607932 BMPR1A 657 10q23.2 chr10:86755786-86927969 3 Sufficient evidence for dosage pathogenicity 11381269 15235019 23399955 0 No evidence available 2020-06-24 174900 BMPR2 659 2q33.1-q33.2 chr2:202376310-202567751 3 Sufficient evidence for dosage pathogenicity 10903931 11015450 0 No evidence available 2020-08-26 178600 BPHL 670 6p25.2 chr6:3118376-3153599 40 Dosage sensitivity unlikely 32487729 22344438 28406212 32461654 0 No evidence available 2021-02-02 BPY2 9083 Yq11.223 chrY:22984263-23005465 0 No evidence available 0 No evidence available 2012-08-22 BRAF 673 7q34 chr7:140713328-140924929 1 Little evidence for dosage pathogenicity 21862832 0 No evidence available 2014-08-04 BRAT1 221927 7p22.3 chr7:2537810-2555753 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2016-08-22 614498 BRCA1 672 17q21.31 chr17:43044295-43125364 3 Sufficient evidence for dosage pathogenicity 0 No evidence available 2015-11-16 604370 BRCA2 675 13q13.1 chr13:32315508-32400268 3 Sufficient evidence for dosage pathogenicity 0 No evidence available 2012-07-06 612555 BRIP1 83990 17q23.2 chr17:61679139-61864120 3 Sufficient evidence for dosage pathogenicity 29368626 26720728 26315354 0 No evidence available 2019-02-15 BRWD3 254065 Xq21.1 chrX:80669503-80809877 2 Some evidence for dosage pathogenicity 17668385 0 No evidence available 2012-04-25 300659 BSND 7809 1p32.3 chr1:54998933-55017172 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2012-05-17 602522 BTD 686 3p25.1 chr3:15601352-15722516 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2015-05-21 253260 BTK 695 Xq22.1 chrX:101349450-101390796 3 Sufficient evidence for dosage pathogenicity 16159644 27512878 32169379 0 No evidence available 2021-03-24 300755 C19orf12 83636 19q12 chr19:29698886-29715789 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2016-08-22 C1QB 713 1p36.12 chr1:22653236-22661637 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2017-01-17 613652 C2orf71 388939 2p23.2 chr2:29061690-29074261 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2014-09-25 613428 C5orf42 65250 5p13.2 chr5:37063928-37249428 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2016-08-22 C8orf37 157657 8q22.1 chr8:95244913-95269201 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2016-08-22 614500 CA5A 763 16q24.2 chr16:87881549-87936575 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2016-08-22 615751 CA8 767 8q12.1 chr8:60185412-60281400 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2016-08-22 613227 CABP4 57010 11q13.2 chr11:67452403-67461774 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2016-08-22 610427 CACNA1A 773 19p13.13 chr19:13206442-13506479 3 Sufficient evidence for dosage pathogenicity 19586927 21927611 25735478 0 No evidence available 2017-05-21 108500 CACNA1C 775 12p13.33 chr12:1969552-2697950 1 Little evidence for dosage pathogenicity 0 No evidence available 2016-03-24 CACNA1S 779 1q32.1 chr1:201039509-201112453 0 No evidence available 0 No evidence available 2016-01-18 CADPS2 93664 7q31.32 chr7:122318411-122886500 0 No evidence available 0 No evidence available 2012-07-10 CAMK2A 815 5q32 chr5:150219491-150290130 1 Little evidence for dosage pathogenicity 29100089 29560374 0 No evidence available 2019-09-04 617798 CAMK2B 816 7p13 chr7:44217154-44326167 2 Some evidence for dosage pathogenicity 29100089 0 No evidence available 2018-06-28 617799 CAMTA1 23261 1p36.31-p36.23 chr1:6785452-7769706 3 Sufficient evidence for dosage pathogenicity 22693284 24738973 0 No evidence available 2017-12-14 614756 CAPN3 825 15q15.1 chr15:42359501-42412317 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2016-08-22 253600 CARD14 79092 17q25.3 chr17:80169992-80209331 0 No evidence available 0 No evidence available 2013-08-01 CASP10 843 2q33.1 chr2:201182885-201229406 1 Little evidence for dosage pathogenicity 21382177 0 No evidence available 2020-04-10 CASR 846 3q13.33-q21.1 chr3:122183668-122291629 0 No evidence available 0 No evidence available 2012-03-02 CASZ1 54897 1p36.22 chr1:10636604-10796650 1 Little evidence for dosage pathogenicity 8263302 0 No evidence available 2019-04-25 CATSPER2 117155 15q15.3 chr15:43628503-43648884 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2012-09-20 CBFB 865 16q22.1 chr16:67029149-67101058 0 No evidence available 0 No evidence available 2012-02-22 CBL 867 11q23.3 chr11:119206339-119308149 0 No evidence available 0 No evidence available 2019-04-24 613563 CBS 875 21q22.3 chr21:43053190-43076873 30 Gene associated with autosomal recessive phenotype 0 No evidence available 11391481 2016-08-22 236200 CC2D2A 57545 4p15.32 chr4:15468660-15601557 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2013-07-17 CCDC39 339829 3q26.33 chr3:180614008-180679489 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2016-08-22 613807 CCDC8 83987 19q13.32 chr19:46410329-46413564 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2016-08-22 614205 CCT5 22948 5p15.2 chr5:10249921-10266412 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2016-08-22 256840 CD3E 916 11q23.3 chr11:118304730-118316173 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2017-05-09 615615 CD40LG 959 Xq26.3 chrX:136648158-136660390 3 Sufficient evidence for dosage pathogenicity 22750225 24768948 16019685 0 No evidence available 29499223 2020-04-08 308230 CD8A 925 2p11.2 chr2:86784605-86808396 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2016-08-22 608957 CDAN1 146059 15q15.2 chr15:42723544-42737133 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2016-08-22 224120 CDC42BPB 9578 14q32.32 chr14:102932380-103057549 1 Little evidence for dosage pathogenicity 22495309 28263302 0 No evidence available 2018-10-24 CDH1 999 16q22.1 chr16:68737292-68835537 3 Sufficient evidence for dosage pathogenicity 26182300 24037103 19168852 0 No evidence available 2020-04-10 137215 CDH15 1013 16q24.3 chr16:89171748-89195492 0 No evidence available 0 No evidence available 2013-08-08 612580 CDK4 1019 12q14.1 chr12:57747727-57752310 0 No evidence available 0 No evidence available 2020-09-02 609048 CDKL5 6792 Xp22.13 chrX:18425608-18653629 3 Sufficient evidence for dosage pathogenicity 15492925 15689447 19241098 0 No evidence available 2012-07-12 300672 CDKN1B 1027 12p13.1 chr12:12717368-12722369 3 Sufficient evidence for dosage pathogenicity 30990521 17519308 29036195 0 No evidence available 2020-07-08 610755 CDKN1C 1028 11p15.4 chr11:2883218-2885775 3 Sufficient evidence for dosage pathogenicity 20503313 23197429 26077438 0 No evidence available 26358311 2020-09-25 130650 CDY1 9085 Yq11.23 chrY:25622095-25625511 0 No evidence available 0 No evidence available 2012-08-22 CENPP 401541 9q22.31 chr9:92325457-92620529 0 No evidence available 0 No evidence available 2012-09-19 CEP164 22897 11q23.3 chr11:117316346-117413266 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2016-08-22 614845 CEP290 80184 12q21.32 chr12:88049013-88142216 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2012-08-22 CEP78 84131 9q21.2 chr9:78236075-78279690 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2017-10-23 CFAP53 220136 18q21.1 chr18:50227193-50266495 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2016-08-22 614779 CFC1 55997 2q21.1 chr2:130592165-130599575 2 Some evidence for dosage pathogenicity 11062482 11799476 0 No evidence available 2011-11-17 CFD 1675 19p13.3 chr19:859664-863641 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2016-08-22 613912 CHAMP1 283489 13q34 chr13:114314503-114327322 2 Some evidence for dosage pathogenicity 26751395 26340335 27148580 0 No evidence available 2020-03-25 616579 CHD1L 9557 1q21.1 chr1:147172747-147295762 0 No evidence available 0 No evidence available 2018-08-30 CHD2 1106 15q26.1 chr15:92900324-93027996 3 Sufficient evidence for dosage pathogenicity 23708187 23020937 24207121 0 No evidence available 2019-10-23 615369 CHD7 55636 8q12.2 chr8:60678740-60868028 3 Sufficient evidence for dosage pathogenicity 21158681 16400610 19248844 0 No evidence available 2012-07-06 214800 CHD8 57680 14q11.2 chr14:21385199-21456123 3 Sufficient evidence for dosage pathogenicity 23160955 24998929 27824329 0 No evidence available 2018-04-25 615032 CHEK2 11200 22q12.1 chr22:28687743-28741866 3 Sufficient evidence for dosage pathogenicity 15122511 16897426 18381420 0 No evidence available 2020-01-08 CHKB 1120 22q13.33 chr22:50578963-50582849 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2016-08-22 602541 CHM 1121 Xq21.2 chrX:85861180-86047558 3 Sufficient evidence for dosage pathogenicity 33538369 27070432 0 No evidence available 2021-03-24 303100 CHMP1A 5119 16q24.3 chr16:89644435-89657708 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2016-08-22 614961 CHRDL1 91851 Xq23 chrX:110673856-110795817 3 Sufficient evidence for dosage pathogenicity 22284829 25093588 26020825 0 No evidence available 2016-12-08 309300 CHRM3 1131 1q43 chr1:239386565-239915450 1 Little evidence for dosage pathogenicity 23253743 0 No evidence available 2015-03-11 CHRNA7 1139 15q13.3 chr15:32030462-32173018 0 No evidence available 0 No evidence available 2018-05-10 CHST6 4166 16q23.1 chr16:75472042-75495441 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2016-08-22 217800 CHSY1 22856 15q26.3 chr15:101175727-101252048 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2016-08-22 605282 CIC 23152 19q13.2 chr19:42268530-42295796 2 Some evidence for dosage pathogenicity 28288114 28263302 22542183 0 No evidence available 2019-08-17 617600 CIDEC 63924 3p25.3 chr3:9866710-9880253 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2016-08-22 615238 CLCN4 1183 Xp22.2 chrX:10156975-10237660 2 Some evidence for dosage pathogenicity 25644381 27550844 0 No evidence available 2018-09-26 300114 CLCN5 1184 Xp11.23 chrX:49922596-50099231 3 Sufficient evidence for dosage pathogenicity 15086899 22083641 0 No evidence available 2012-10-18 300009 CLCNKA 1187 1p36.13 chr1:16022036-16034050 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2012-05-17 613090 CLCNKB 1188 1p36.13 chr1:16043782-16057326 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2011-11-17 CLDN14 23562 21q22.13 chr21:36460621-36576569 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2016-08-22 614035 CLMP 79827 11q24.1 chr11:123069872-123195248 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2016-08-22 615237 CLNK 116449 4p16.1 chr4:10486395-10734853 0 No evidence available 0 No evidence available 2016-06-02 CLPP 8192 19p13.3 chr19:6361531-6370242 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2018-03-06 614129 CLRN1 7401 3q25.1 chr3:150926163-150972999 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2016-08-22 CNKSR2 22866 Xp22.12 chrX:21374418-21654689 3 Sufficient evidence for dosage pathogenicity 22511892 25223753 25754917 0 No evidence available 2021-01-12 301008 CNOT3 4849 19q13.42 chr19:54137689-54155690 0 No evidence available 0 No evidence available 2018-06-27 CNTN2 6900 1q32.1 chr1:205042937-205078289 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2016-08-22 615400 CNTN4 152330 3p26.3-p26.2 chr3:2098866-3059080 1 Little evidence for dosage pathogenicity 15106122 18349135 21308999 0 No evidence available 22750301 2017-10-18 CNTN6 27255 3p26.3 chr3:978021-1404217 1 Little evidence for dosage pathogenicity 25606055 26257835 27166760 0 No evidence available 26257835 2017-10-18 CNTNAP2 26047 7q35-q36.1 chr7:146116207-148420998 1 Little evidence for dosage pathogenicity 22031302 0 No evidence available 2019-10-23 COG7 91949 16p12.2 chr16:23388493-23453215 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2015-04-08 608779 COG8 84342 16q22.1 chr16:69326428-69339564 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2015-03-25 611182 COL11A1 1301 1p21.1 chr1:102876473-103108580 1 Little evidence for dosage pathogenicity 21035103 0 No evidence available 2011-10-19 120280 COL16A1 1307 1p35.2 chr1:31652263-31704162 40 Dosage sensitivity unlikely 32487729 22344438 32461654 0 No evidence available 2021-02-01 COL1A1 1277 17q21.33 chr17:50184096-50201649 3 Sufficient evidence for dosage pathogenicity 9067755 9016532 0 No evidence available 2012-08-23 166200 COL1A2 1278 7q21.3 chr7:94394895-94431227 0 No evidence available 0 No evidence available 2012-10-12 COL2A1 1280 12q13.11 chr12:47972967-48006212 3 Sufficient evidence for dosage pathogenicity 27390512 27408751 17721977 0 No evidence available 2020-07-29 108300 COL3A1 1281 2q32.2 chr2:188974373-189012746 3 Sufficient evidence for dosage pathogenicity 11577371 24922459 24650746 0 No evidence available 2017-01-12 130050 COL4A3 1285 2q36.3 chr2:227164589-227314792 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2013-05-22 203780,141200 COL4A5 1287 Xq22.3 chrX:108439838-108697545 3 Sufficient evidence for dosage pathogenicity 16941480 10752524 30577881 0 No evidence available 2020-09-08 301050 COL5A1 1289 9q34.3 chr9:134641789-134844843 3 Sufficient evidence for dosage pathogenicity 10777716 8673139 10796876 0 No evidence available 2017-12-14 130000 COL6A5 256076 3q22.1 chr3:130345516-130484846 40 Dosage sensitivity unlikely 32487729 26940866 28406212 25807282 32461654 0 No evidence available 2021-02-02 COL9A1 1297 6q13 chr6:70215061-70303084 0 No evidence available 0 No evidence available 2013-11-06 614135 COL9A2 1298 1p34.2 chr1:40300487-40317653 0 No evidence available 0 No evidence available 2013-10-09 604204 COLEC11 78989 2p25.3 chr2:3595112-3644644 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2016-08-22 265050 COLQ 8292 3p25.1 chr3:15450133-15521706 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2016-08-22 603034 COQ2 27235 4q21.22-q21.23 chr4:83263824-83285134 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2016-08-22 CORO1A 11151 16p11.2 chr16:30183602-30189076 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2016-08-22 615401 COX14 84987 12q13.12 chr12:50112236-50120453 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2016-08-22 220110 COX15 1355 10q24.2 chr10:99694293-99732131 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2016-08-22 COX6B1 1340 19q13.12 chr19:35648323-35658782 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2016-08-22 220110 CPA4 51200 7q32.2 chr7:130293161-130324180 0 No evidence available 0 No evidence available 2012-07-25 CPA6 57094 8q13.2 chr8:67422038-67747114 0 No evidence available 0 No evidence available 2019-09-04 CPN1 1369 10q24.2 chr10:100042193-100081869 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2016-08-22 212070 CPT1A 1374 11q13.3 chr11:68754620-68844410 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2016-08-22 255120 CRADD 8738 12q22 chr12:93677342-93894840 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2016-08-22 614499 CREBBP 1387 16p13.3 chr16:3725054-3880727 3 Sufficient evidence for dosage pathogenicity 17473832 20717166 18792986 18792986 20689175 30892814 30633342 0 No evidence available 19833603 2019-10-23 180849 CRHR1 1394 17q21.31 chr17:45784320-45835828 0 No evidence available 0 No evidence available 2012-07-06 CRIPT 9419 2p21 chr2:46617215-46630176 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2016-08-22 615789 CRKL 1399 22q11.21 chr22:20917407-20953747 1 Little evidence for dosage pathogenicity 28121514 0 No evidence available 2020-04-13 CRTAP 10491 3p22.3 chr3:33114014-33147773 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2016-08-22 610682 CRYBA1 1411 17q11.2 chr17:29246859-29254494 0 No evidence available 0 No evidence available 2013-06-06 CRYBB2 1415 22q11.23 chr22:25211660-25231869 1 Little evidence for dosage pathogenicity 0 No evidence available 2013-03-13 CRYGC 1420 2q33.3 chr2:208128137-208139100 0 No evidence available 0 No evidence available 2013-05-22 CSMD1 64478 8p23.2 chr8:2935353-4995035 1 Little evidence for dosage pathogenicity 23375656 21658582 22083728 0 No evidence available 2018-10-24 CSPP1 79848 8q13.1-q13.2 chr8:67062417-67198003 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2016-08-22 615636 CSTB 1476 21q22.3 chr21:43773950-43776308 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2016-08-22 254800 CTC1 80169 17p13.1 chr17:8224815-8248079 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2019-10-08 612199 CTCF 10664 16q22.1 chr16:67562526-67639185 2 Some evidence for dosage pathogenicity 23746550 25363768 0 No evidence available 2018-03-28 CTH 1491 1p31.1 chr1:70411268-70441949 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2016-08-22 219500 CTNNA3 29119 10q21.3 chr10:65912523-67696217 0 No evidence available 23375656 21658582 20427753 0 No evidence available 23632794 23375656 2018-10-24 CTNNB1 1499 3p22.1 chr3:41199422-41240445 3 Sufficient evidence for dosage pathogenicity 27915094 23033978 25326669 0 No evidence available 2017-11-22 615075 CTNS 1497 17p13.2 chr17:3636459-3663103 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2012-08-22 219800 CTSB 1508 8p23.1 chr8:11842524-11868087 0 No evidence available 0 No evidence available 2012-02-08 CUBN 8029 10p13 chr10:16823966-17130492 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2016-08-22 261100 CUL4B 8450 Xq24 chrX:120523858-120575532 3 Sufficient evidence for dosage pathogenicity 17236139 17273978 22182342 26350204 0 No evidence available 2021-02-09 300354 CYB5A 1528 18q22.3 chr18:74250846-74291980 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2016-08-22 250790 CYBB 1536 Xp21.1-p11.4 chrX:37780059-37813461 3 Sufficient evidence for dosage pathogenicity 0 No evidence available 2020-05-27 306400 CYLD 1540 16q12.1 chr16:50742086-50801935 3 Sufficient evidence for dosage pathogenicity 10835629 15854031 20132422 0 No evidence available 2021-02-10 605041,132700,601606 CYP21A2 1589 6p21.33 chr6:32038415-32041644 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2012-07-06 201910 CYP3A43 64816 7q22.1 chr7:99827626-99867138 40 Dosage sensitivity unlikely 32487729 22344438 25807282 32461654 0 No evidence available 2021-02-02 DARS2 55157 1q25.1 chr1:173824673-173858546 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2016-08-22 611105 DAZ1 1617 Yq11.223 chrY:23129355-23199117 0 No evidence available 0 No evidence available 2012-10-17 DBH 1621 9q34.2 chr9:133636363-133659329 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2016-08-22 223360 DCHS1 8642 11p15.4 chr11:6621330-6655809 1 Little evidence for dosage pathogenicity 26258302 0 No evidence available 2018-08-31 DCLRE1C 64421 10p13 chr10:14897359-14954432 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2016-08-22 DCX 1641 Xq23 chrX:111293779-111412205 3 Sufficient evidence for dosage pathogenicity 9489700 0 No evidence available 2012-07-06 300067 DCXR 51181 17q25.3 chr17:82035858-82037697 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2016-08-22 260800 DDHD1 80821 14q22.1 chr14:53036755-53153323 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2014-09-25 609340 DDOST 1650 1p36.12 chr1:20651777-20661369 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2016-08-22 614507 DDX3X 1654 Xp11.4 chrX:41333308-41364472 3 Sufficient evidence for dosage pathogenicity 26235985 27159028 28327206 0 No evidence available 2017-11-22 300958 DGKE 8526 17q22 chr17:56834131-56869567 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2016-08-22 615008 DHCR7 1717 11q13.4 chr11:71434411-71448393 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2012-04-04 270400 DHODH 1723 16q22.2 chr16:72008744-72027659 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2016-08-22 263750 DHX57 90957 2p22.1 chr2:38797729-38875934 0 No evidence available 25363760 28263302 0 No evidence available 2018-06-28 DICER1 23405 14q32.13 chr14:95086228-95158263 3 Sufficient evidence for dosage pathogenicity 24761742 0 No evidence available 2017-04-13 601200 DIP2A 23181 21q22.3 chr21:46458891-46571226 1 Little evidence for dosage pathogenicity 18521840 25363768 24643514 0 No evidence available 2019-01-23 DIRAS3 9077 1p31.3 chr1:68045886-68051631 0 No evidence available 0 No evidence available 2011-10-19 DIS3L2 129563 2q37.1 chr2:231961713-232344350 1 Little evidence for dosage pathogenicity 25670083 31350202 26822237 0 No evidence available 2020-10-14 267000 DISC1 27185 1q42.2 chr1:231626790-232041272 0 No evidence available 0 No evidence available 2012-03-06 DISP1 84976 1q41 chr1:222814514-223005995 0 No evidence available 0 No evidence available 2012-07-06 DKC1 1736 Xq28 chrX:154762864-154777689 1 Little evidence for dosage pathogenicity 18627054 0 No evidence available 2012-04-25 DLG2 1740 11q14.1 chr11:83455009-85628535 1 Little evidence for dosage pathogenicity 21792059 25055870 18511947 0 No evidence available 2018-11-28 DLG3 1741 Xq13.1 chrX:70444835-70505490 2 Some evidence for dosage pathogenicity 15185169 19795139 24721225 0 No evidence available 2019-11-20 300850 DLGAP2 9228 8p23.3 chr8:737628-1708476 0 No evidence available 0 No evidence available 2012-03-22 DLK1 8788 14q32.2 chr14:100726892-100738224 0 No evidence available 0 No evidence available 2012-04-28 DLL1 28514 6q27 chr6:170282200-170291078 3 Sufficient evidence for dosage pathogenicity 31353024 22542183 0 No evidence available 2021-03-09 618709 DLX1 1745 2q31.1 chr2:172085507-172089674 0 No evidence available 0 No evidence available 2012-03-30 DLX2 1746 2q31.1 chr2:172099438-172102900 0 No evidence available 0 No evidence available 2012-01-19 DLX5 1749 7q21.3 chr7:97020396-97024831 0 No evidence available 0 No evidence available 2012-05-14 220600 DLX6 1750 7q21.3 chr7:97005553-97011040 0 No evidence available 0 No evidence available 2012-05-14 220600 DMD 1756 Xp21.2-p21.1 chrX:31119219-33339460 3 Sufficient evidence for dosage pathogenicity 0 No evidence available 2019-11-20 310200 DMRT1 1761 9p24.3 chr9:841647-969090 2 Some evidence for dosage pathogenicity 20685758 22573722 0 No evidence available 2012-06-06 DMRT2 10655 9p24.3 chr9:1003237-1057554 0 No evidence available 0 No evidence available 2012-08-22 DMXL2 23312 15q21.2 chr15:51447788-51622833 0 No evidence available 0 No evidence available 2012-04-04 DNAAF1 123872 16q24.1 chr16:84145266-84178761 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2016-08-22 613193 DNAH11 8701 7p15.3 chr7:21543039-21901839 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2016-08-22 611884 DNAH5 1767 5p15.2 chr5:13690328-14011829 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2016-08-22 608644 DNAI1 27019 9p13.3 chr9:34458805-34520984 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2016-08-22 244400 DNAI2 64446 17q25.1 chr17:74274229-74314884 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2016-08-22 612444 DNAJB6 10049 7q36.3 chr7:157337004-157417439 0 No evidence available 0 No evidence available 2012-10-29 DNAJC21 134218 5p13.2 chr5:34929540-34958964 1 Little evidence for dosage pathogenicity 26822949 0 No evidence available 2020-10-14 617052 DNAJC28 54943 21q22.11 chr21:33488055-33491716 40 Dosage sensitivity unlikely 32487729 22344438 25807282 32461654 0 No evidence available 2021-02-02 DNAJC6 9829 1p31.3 chr1:65264749-65415871 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2016-08-22 615528 DNASE1 1773 16p13.3 chr16:3611737-3665472 0 No evidence available 0 No evidence available 2012-02-22 DNMT3A 1788 2p23.3 chr2:25227874-25342590 1 Little evidence for dosage pathogenicity 24614070 26866722 27701732 0 No evidence available 2018-04-29 615879 DOCK7 85440 1p31.3 chr1:62454726-62688386 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2016-08-22 615859 DPAGT1 1798 11q23.3 chr11:119096505-119101884 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2016-08-22 DPM1 8813 20q13.13 chr20:50934855-50958564 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2016-08-22 608799 DPM3 54344 1q22 chr1:155139891-155140573 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2015-04-08 612937 DPP6 1804 7q36.2 chr7:153748133-154894285 1 Little evidence for dosage pathogenicity 23832105 18252227 30874922 0 No evidence available 2019-06-26 616311 DPYD 1806 1p21.3 chr1:97077743-97921059 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2018-01-23 274270 DRD5 1816 4p16.1 chr4:9781634-9784009 0 No evidence available 0 No evidence available 2012-05-15 DSC2 1824 18q12.1 chr18:31058840-31102421 2 Some evidence for dosage pathogenicity 17186466 17033975 21062920 0 No evidence available 2016-01-14 610476 DSCAM 1826 21q22.2 chr21:40010999-40847158 3 Sufficient evidence for dosage pathogenicity 27824329 25363768 25363760 0 No evidence available 2018-01-24 209850 209850 DSCR3 10311 21q22.13 chr21:37223420-37268108 0 No evidence available 0 No evidence available 2012-04-24 DSG2 1829 18q12.1 chr18:31498177-31549008 1 Little evidence for dosage pathogenicity 21397041 26296472 16773573 0 No evidence available 2015-11-16 DSG4 147409 18q12.1 chr18:31376777-31415791 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2016-08-22 607903 DSP 1832 6p24.3 chr6:7541671-7586714 1 Little evidence for dosage pathogenicity 15941723 23137101 0 No evidence available 2016-01-14 DSPP 1834 4q22.1 chr4:87608529-87616873 0 No evidence available 0 No evidence available 2013-03-27 DYM 54808 18q21.1 chr18:49036387-49460709 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2012-02-23 DYRK1A 1859 21q22.13 chr21:37365573-37526358 3 Sufficient evidence for dosage pathogenicity 22495309 21294719 25944381 0 No evidence available 2020-12-16 614104 EARS2 124454 16p12.2 chr16:23520754-23557375 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2016-08-22 614924 EBP 10682 Xp11.23 chrX:48521808-48528716 3 Sufficient evidence for dosage pathogenicity 11038443 12509714 10942423 0 No evidence available 2020-01-22 302960 EDA 1896 Xq13.1 chrX:69616086-70039472 3 Sufficient evidence for dosage pathogenicity 0 No evidence available 2012-07-26 305100 EDNRB 1910 13q22.3 chr13:77895481-77975527 3 Sufficient evidence for dosage pathogenicity 8852658 10528251 8001158 0 No evidence available 2012-07-06 600155 EFCAB13 124989 17q21.32 chr17:47323955-47441312 40 Dosage sensitivity unlikely 32487729 26940866 25807282 28406212 32461654 0 No evidence available 2021-02-02 EFNB1 1947 Xq13.1 chrX:68829021-68842160 3 Sufficient evidence for dosage pathogenicity 15166289 15124102 15959873 1 Little evidence for dosage pathogenicity 21064195 2012-07-26 304110 EFTUD2 9343 17q21.31 chr17:44849948-44899445 3 Sufficient evidence for dosage pathogenicity 22305528 23188108 0 No evidence available 2013-05-23 610536 EGR2 1959 10q21.3 chr10:62811996-62819167 0 No evidence available 0 No evidence available 2011-11-28 EHMT1 79813 9q34.3 chr9:137619001-137836127 3 Sufficient evidence for dosage pathogenicity 16826528 19264732 1 Little evidence for dosage pathogenicity 22083728 2012-07-06 610253 EIF2B3 8891 1p34.1 chr1:44850522-44986641 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2016-08-22 603896 EIF4A3 9775 17q25.3 chr17:80134369-80147128 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2016-08-22 268305 ELAVL2 1993 9p21.3 chr9:23690099-23850601 1 Little evidence for dosage pathogenicity 25055870 0 No evidence available 2018-11-28 ELK1 2002 Xp11.23 chrX:47635520-47650604 0 No evidence available 0 No evidence available 2012-09-26 ELN 2006 7q11.23 chr7:74027772-74069907 3 Sufficient evidence for dosage pathogenicity 0 No evidence available 2012-07-10 185500 EMX2 2018 10q26.11 chr10:117542746-117549546 2 Some evidence for dosage pathogenicity 8528262 18409201 0 No evidence available 2011-12-21 269160 EN2 2020 7q36.3 chr7:155458129-155464831 0 No evidence available 0 No evidence available 2012-08-26 ENG 2022 9q34.11 chr9:127815012-127854773 3 Sufficient evidence for dosage pathogenicity 20412114 20414677 16752392 0 No evidence available 2016-12-07 187300 ENPP1 5167 6q23.2 chr6:131808020-131895155 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2016-08-22 EP300 2033 22q13.2 chr22:41092592-41180077 3 Sufficient evidence for dosage pathogenicity 15706485 19353645 0 No evidence available 2013-03-14 613684 EPB42 2038 15q15.2 chr15:43197227-43225856 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2016-08-22 612690 EPCAM 4072 2p21 chr2:47369311-47387020 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2019-10-08 EPM2A 7957 6q24.3 chr6:145382540-145736023 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2016-08-22 254780 EPS8 2059 12p12.3 chr12:15620134-15789388 30 Gene associated with autosomal recessive phenotype 24741995 27344577 0 No evidence available 2018-02-07 615974 ERCC3 2071 2q14.3 chr2:127257290-127294166 30 Gene associated with autosomal recessive phenotype 27655433 28202063 0 No evidence available 2020-06-30 ERCC6L2 375748 9q22.32 chr9:95875632-96041092 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2016-08-22 615715 ERCC8 1161 5q12.1 chr5:60866454-60945070 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2016-08-22 ERF 2077 19q13.2 chr19:42247569-42255128 2 Some evidence for dosage pathogenicity 23354439 26097063 0 No evidence available 2017-04-13 ERMARD 55780 6q27 chr6:169751622-169781600 1 Little evidence for dosage pathogenicity 24056535 0 No evidence available 2013-11-13 ESPN 83715 1p36.31 chr1:6424776-6461367 30 Gene associated with autosomal recessive phenotype 15286153 18973245 0 No evidence available 2018-02-07 609006 ETFB 2109 19q13.41 chr19:51345155-51366388 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2016-08-22 231680 EVC2 132884 4p16.2 chr4:5562408-5709548 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2013-07-18 EVX2 344191 2q31.1 chr2:176080107-176083962 0 No evidence available 0 No evidence available 2012-04-04 EXO5 64789 1p34.2 chr1:40508741-40516050 40 Dosage sensitivity unlikely 32487729 25807282 32461654 0 No evidence available 2021-02-02 EXOSC3 51010 9p13.2 chr9:37779714-37785092 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2016-08-22 614678 EXPH5 23086 11q22.3 chr11:108505431-108607514 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2016-08-22 615028 EXT1 2131 8q24.11 chr8:117794490-118111826 3 Sufficient evidence for dosage pathogenicity 29529714 30334991 28690282 0 No evidence available 2020-06-17 133700 EXT2 2132 11p11.2 chr11:44095659-44251962 3 Sufficient evidence for dosage pathogenicity 29529714 30334991 28690282 0 No evidence available 2020-06-23 133701 EYA1 2138 8q13.3 chr8:71197433-71548104 3 Sufficient evidence for dosage pathogenicity 30086703 16813606 29552445 0 No evidence available 2020-08-25 113650 EYA4 2070 6q23.2 chr6:133240340-133532128 3 Sufficient evidence for dosage pathogenicity 11159937 17567890 15735644 0 No evidence available 2020-01-22 601316 F13A1 2162 6p25.1 chr6:6144084-6320662 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2016-08-22 F13B 2165 1q31.3 chr1:197038741-197067264 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2016-08-22 613235 F5 2153 1q24.2 chr1:169511951-169586630 30 Gene associated with autosomal recessive phenotype 11435304 19598066 0 No evidence available 2018-01-11 227400 F8 2157 Xq28 chrX:154835792-155022723 3 Sufficient evidence for dosage pathogenicity 2987704 23534532 23551875 0 No evidence available 2020-10-13 306700 F9 2158 Xq27.1 chrX:139530720-139563459 3 Sufficient evidence for dosage pathogenicity 20301668 29296726 0 No evidence available 2021-01-12 306900 FADD 8772 11q13.3 chr11:70203296-70207390 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2016-08-22 613759 FAH 2184 15q25.1 chr15:80152789-80186949 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2020-09-02 276700 FAM134B 54463 5p15.1 chr5:16473038-16617058 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2016-08-22 613115 FAM161A 84140 2p15 chr2:61800240-61854126 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2016-08-22 606068 FAM175A 84142 4q21.23 chr4:83459515-83485181 0 No evidence available 0 No evidence available 2021-04-14 FAM58A 92002 Xq28 chrX:153587925-153599177 2 Some evidence for dosage pathogenicity 18297069 0 No evidence available 2013-04-26 300707 FAN1 22909 15q13.3 chr15:30903852-30943108 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2016-08-22 614817 FANCA 2175 16q24.3 chr16:89737549-89816647 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2012-02-23 227650 FANCC 2176 9q22.32 chr9:95099054-95317730 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2016-08-22 227645 FANCE 2178 6p21.31 chr6:35452338-35467106 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2020-06-12 FANCF 2188 11p14.3 chr11:22622533-22625823 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2016-08-22 603467 FANCG 2189 9p13.3 chr9:35073839-35079942 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2020-11-15 FARS2 10667 6p25.1 chr6:5261007-5771583 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2016-08-22 FASLG 356 1q24.3 chr1:172659103-172666876 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2016-08-25 FBN1 2200 15q21.1 chr15:48408313-48645709 3 Sufficient evidence for dosage pathogenicity 17701892 30286810 21063442 0 No evidence available 2019-12-04 154700 FBP1 2203 9q22.32 chr9:94603133-94640263 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2016-08-22 229700 FBXW11 23291 5q35.1 chr5:171861549-172006638 0 No evidence available 1 Little evidence for dosage pathogenicity 16865294 2011-12-07 FBXW4 6468 10q24.32 chr10:101610664-101695295 0 No evidence available 0 No evidence available 2014-10-08 246560 FGD4 121512 12p11.21 chr12:32399523-32646050 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2016-08-22 609311 FGF10 2255 5p12 chr5:44300247-44389706 3 Sufficient evidence for dosage pathogenicity 15654336 16630169 19102732 0 No evidence available 2020-02-26 180920,149730 FGFR1 2260 8p11.23 chr8:38411143-38468635 3 Sufficient evidence for dosage pathogenicity 12627230 15605412 19489874 0 No evidence available 2021-04-05 147950 FGFR3 2261 4p16.3 chr4:1793293-1808872 0 No evidence available 0 No evidence available 21815251 20197130 2011-11-09 FGFRL1 53834 4p16.3 chr4:1009930-1026898 0 No evidence available 0 No evidence available 2013-08-01 FH 2271 1q43 chr1:241497603-241519755 3 Sufficient evidence for dosage pathogenicity 21398687 0 No evidence available 2020-07-06 150800 FHIT 2272 3p14.2 chr3:59747277-61251452 0 No evidence available 17363630 2337565 0 No evidence available 27113213 2018-10-24 FKBP14 55033 7p14.3 chr7:30010587-30026702 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2016-08-22 614557 FLCN 201163 17p11.2 chr17:17206946-17237188 3 Sufficient evidence for dosage pathogenicity 22146830 20413710 21412933 0 No evidence available 2016-11-10 135150 FLG 2312 1q21.3 chr1:152302165-152325239 3 Sufficient evidence for dosage pathogenicity 16444271 27793761 27667308 0 No evidence available 2020-02-26 146700 FLNA 2316 Xq28 chrX:154348531-154374634 3 Sufficient evidence for dosage pathogenicity 16684786 23032111 26471271 0 No evidence available 24098143 2020-12-02 300049 FLNB 2317 3p14.3 chr3:58008422-58172251 0 No evidence available 0 No evidence available 2013-07-25 FLVCR2 55640 14q24.3 chr14:75578620-75648167 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2016-08-22 225790 FMO2 2327 1q24.3 chr1:171185208-171212686 40 Dosage sensitivity unlikely 32487729 22344438 25807282 32461654 0 No evidence available 2021-02-02 FMR1 2332 Xq27.3 chrX:147911919-147951125 3 Sufficient evidence for dosage pathogenicity 1642231 7670500 8069307 0 No evidence available 2020-12-16 300624 FOLR1 2348 11q13.4 chr11:72189709-72196323 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2019-06-25 FOXC1 2296 6p25.3 chr6:1609915-1613897 3 Sufficient evidence for dosage pathogenicity 11170889 17653043 16936096 0 No evidence available 2020-07-29 602482 601631 FOXC2 2303 16q24.1 chr16:86566829-86569728 3 Sufficient evidence for dosage pathogenicity 11078474 11694548 21918810 0 No evidence available 2013-11-26 153400 FOXE3 2301 1p33 chr1:47416285-47418052 0 No evidence available 0 No evidence available 2017-12-13 FOXF1 2294 16q24.1 chr16:86510527-86515422 3 Sufficient evidence for dosage pathogenicity 23505205 0 No evidence available 2013-06-20 265380 FOXG1 2290 14q12 chr14:28766787-28770277 3 Sufficient evidence for dosage pathogenicity 28661489 24836831 29655203 24139857 19578037 18571142 0 No evidence available 2021-03-09 FOXL2 668 3q22.3 chr3:138944224-138947137 3 Sufficient evidence for dosage pathogenicity 28924383 15962237 20232352 11468277 29339661 18726931 0 No evidence available 2021-02-09 110100 FOXP1 27086 3p13 chr3:70954708-71583983 3 Sufficient evidence for dosage pathogenicity 29090079 20848658 20950788 0 No evidence available 2020-01-22 613670 FOXP2 93986 7q31.1 chr7:114086327-114693765 1 Little evidence for dosage pathogenicity 15877281 0 No evidence available 2012-09-19 605317 FOXRED1 55572 11q24.2 chr11:126269043-126278132 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2016-08-22 FREM1 158326 9p22.3 chr9:14734666-14911653 0 No evidence available 0 No evidence available 2013-06-06 FRMD7 90167 Xq26.2 chrX:132074926-132128020 3 Sufficient evidence for dosage pathogenicity 17013395 20450309 28378818 0 No evidence available 2020-04-09 310700 FTCD 10841 21q22.3 chr21:46135981-46156482 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2016-08-22 229100 FTL 2512 19q13.33 chr19:48963941-48966879 0 No evidence available 0 No evidence available 2013-08-22 FTSJ1 24140 Xp11.23 chrX:48476021-48486364 3 Sufficient evidence for dosage pathogenicity 15162322 15342698 18081026 0 No evidence available 2012-07-12 309549 FXN 2395 9q21.11 chr9:69035752-69079076 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2016-08-22 229300 FYCO1 79443 3p21.31 chr3:45917903-45995824 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2015-05-20 610019 FZD4 8322 11q14.2 chr11:86945679-86955395 3 Sufficient evidence for dosage pathogenicity 12172548 15223780 14507768 0 No evidence available 2012-07-06 133780 G6PC3 92579 17q21.31 chr17:44070673-44076344 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2020-04-30 612541 GAB4 128954 22q11.1 chr22:16961936-17008281 40 Dosage sensitivity unlikely 32487729 22344438 25807282 32461654 0 No evidence available 2021-02-02 GABRA1 2554 5q34 chr5:161847191-161899971 2 Some evidence for dosage pathogenicity 16718694 21714819 22812724 0 No evidence available 2017-08-09 GABRB3 2562 15q12 chr15:26543552-26773763 0 No evidence available 0 No evidence available 2012-04-25 GABRG2 2566 5q34 chr5:162067465-162155539 1 Little evidence for dosage pathogenicity 12117362 19261880 24480790 0 No evidence available 2018-09-25 GALK1 2584 17q25.1 chr17:75751469-75765192 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2016-08-22 230200 GALNS 2588 16q24.3 chr16:88813734-88856966 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2016-08-22 253000 GALNT12 79695 9q22.33 chr9:98807670-98850081 1 Little evidence for dosage pathogenicity 29749045 19617566 22461326 0 No evidence available 2019-09-09 608812 GALNT3 2591 2q24.3 chr2:165747588-165796352 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2016-08-22 211900 GALR1 2587 18q23 chr18:77249848-77277900 0 No evidence available 0 No evidence available 2012-07-06 GAMT 2593 19p13.3 chr19:1397026-1401542 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2016-08-22 612736 GATA1 2623 Xp11.23 chrX:48786540-48794311 0 No evidence available 0 No evidence available 2020-10-14 GATA2 2624 3q21.3 chr3:128479422-128493201 3 Sufficient evidence for dosage pathogenicity 21892158 21670465 22147895 0 No evidence available 2015-06-04 614038 GATA3 2625 10p14 chr10:8045420-8075198 3 Sufficient evidence for dosage pathogenicity 10935639 11389161 27387476 0 No evidence available 2020-06-24 146255 GATA4 2626 8p23.1 chr8:11676931-11760002 3 Sufficient evidence for dosage pathogenicity 12845333 15863664 24000169 0 No evidence available 2017-02-08 607941 GATA6 2627 18q11.2 chr18:22169589-22202528 3 Sufficient evidence for dosage pathogenicity 22158542 23223019 23635550 0 No evidence available 2013-06-20 600001 GATAD2B 57459 1q21.3 chr1:153804725-153923953 3 Sufficient evidence for dosage pathogenicity 23644463 28077840 27848944 0 No evidence available 2017-12-27 615074 GBA 2629 1q22 chr1:155234452-155244627 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2016-08-22 GBE1 2632 3p12.2 chr3:81489703-81761645 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2016-08-22 GCH1 2643 14q22.2 chr14:54842016-54902826 3 Sufficient evidence for dosage pathogenicity 17804835 17111153 21287604 0 No evidence available 2016-05-12 128230 GDF2 2658 10q11.22 chr10:47322454-47327588 0 No evidence available 0 No evidence available 2016-10-13 GDF5 8200 20q11.22 chr20:35433347-35454749 3 Sufficient evidence for dosage pathogenicity 33333243 9288091 18283415 12567410 0 No evidence available 2021-02-24 113100 GDI1 2664 Xq28 chrX:154437154-154443467 2 Some evidence for dosage pathogenicity 9620768 22002931 0 No evidence available 2018-09-26 300849 GEN1 348654 2p24.2 chr2:17753687-17788946 40 Dosage sensitivity unlikely 32487729 22344438 28406212 25807282 32461654 0 No evidence available 2021-02-02 GFER 2671 16p13.3 chr16:1984193-1987749 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2016-08-22 613076 GFM1 85476 3q25.32 chr3:158644527-158695581 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2016-08-22 609060 GIGYF2 26058 2q37.1 chr2:232697331-232860605 2 Some evidence for dosage pathogenicity 25170348 25363768 27824329 0 No evidence available 2018-11-28 GIPC3 126326 19p13.3 chr19:3585478-3593541 30 Gene associated with autosomal recessive phenotype 21326233 21660509 0 No evidence available 2016-08-22 601869 GJA1 2697 6q22.31 chr6:121435646-121449727 0 No evidence available 0 No evidence available 2013-11-20 GJA5 2702 1q21.2 chr1:147756199-147781127 1 Little evidence for dosage pathogenicity 20818502 0 No evidence available 2012-02-23 GJA8 2703 1q21.2 chr1:147902795-147915287 1 Little evidence for dosage pathogenicity 18006672 0 No evidence available 2012-02-23 GJB2 2706 13q12.11 chr13:20187470-20192938 40 Dosage sensitivity unlikely 0 No evidence available 2012-05-10 148350,124500,148210,602540,601544,149200 GJB6 10804 13q12.11 chr13:20221962-20232319 0 No evidence available 0 No evidence available 2014-01-30 GK 2710 Xp21.2 chrX:30653348-30731462 3 Sufficient evidence for dosage pathogenicity 8651297 9719371 10851254 0 No evidence available 2012-09-06 307030 GLA 2717 Xq22.1 chrX:101397803-101407925 3 Sufficient evidence for dosage pathogenicity 27560961 30988410 11322659 0 No evidence available 2021-03-24 301500 GLB1 2720 3p22.3 chr3:32996617-33097146 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2015-03-25 230500,230600,230650,253010 GLDC 2731 9p24.1 chr9:6532467-6645729 30 Gene associated with autosomal recessive phenotype 22171071 0 No evidence available 2016-06-10 605899 GLI2 2736 2q14.2 chr2:120735868-120992653 3 Sufficient evidence for dosage pathogenicity 14581620 21204792 24744436 0 No evidence available 2021-01-11 610829 GLI3 2737 7p14.1 chr7:41960949-42237209 3 Sufficient evidence for dosage pathogenicity 15739154 21326280 29236091 0 No evidence available 2021-01-12 175700 GLIS3 169792 9p24.2 chr9:3824127-4310694 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2016-08-22 610199 GLMN 11146 1p22.1 chr1:92245786-92441936 3 Sufficient evidence for dosage pathogenicity 11845407 15689436 22092580 0 No evidence available 2013-07-18 138000 GLRB 2743 4q32.1 chr4:157076146-157172090 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2016-08-22 614619 GLUL 2752 1q25.3 chr1:182378098-182391790 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2015-06-04 610015 GMPPA 29926 2q35 chr2:219498891-219506989 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2016-08-22 615510 GNAI3 2773 1p13.3 chr1:109548615-109600195 0 No evidence available 0 No evidence available 2013-07-18 GNAS 2778 20q13.32 chr20:58839681-58911192 3 Sufficient evidence for dosage pathogenicity 9876352 11095461 11600516 0 No evidence available 2021-01-12 GNB1 2782 1p36.33 chr1:1785286-1891087 1 Little evidence for dosage pathogenicity 28087732 0 No evidence available 2019-01-23 616973 GNRH1 2796 8p21.2 chr8:25419258-25425040 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2016-08-22 614841 GOLGA2P2Y 84559 Yq11.23 chrY:24209967-24214831 0 No evidence available 0 No evidence available 2012-08-22 GORAB 92344 1q24.2 chr1:170532134-170553834 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2016-08-22 231070 GP6 51206 19q13.42 chr19:55013705-55038264 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2016-08-22 614201 GPC3 2719 Xq26.2 chrX:133535745-133985616 3 Sufficient evidence for dosage pathogenicity 30447178 21362501 10814714 0 No evidence available 2021-01-27 312870 GPC5 2262 13q31.3 chr13:91398621-92867237 0 No evidence available 0 No evidence available 2012-03-08 GPC6 10082 13q31.3-q32.1 chr13:93226807-94408020 30 Gene associated with autosomal recessive phenotype 0 No evidence available 19941983 2011-11-17 258315 GPD1 2819 12q13.12 chr12:50104008-50111313 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2016-08-22 614480 GPHN 10243 14q23.3-q24.1 chr14:66507934-67181805 2 Some evidence for dosage pathogenicity 23393157 24561070 24643514 0 No evidence available 2014-08-28 GPR148 344561 2q21.1 chr2:130729070-130730336 0 No evidence available 0 No evidence available 2018-04-05 GPR179 440435 17q12 chr17:38324571-38343956 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2016-08-22 614565 GPSM2 29899 1p13.3 chr1:108875350-108934545 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2016-08-22 604213 GPX4 2879 19p13.3 chr19:1103994-1106779 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2016-08-22 250220 GRB10 2887 7p12.1 chr7:50590068-50793453 0 No evidence available 0 No evidence available 2012-03-23 GREM1 26585 15q13.3 chr15:32718004-32745106 0 No evidence available 0 No evidence available 2020-08-20 GRHPR 9380 9p13.2 chr9:37422435-37438952 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2016-08-22 260000 GRIA3 2892 Xq25 chrX:123184278-123490915 2 Some evidence for dosage pathogenicity 17568425 19449417 17989220 0 No evidence available 2019-10-23 300699 GRID1 2894 10q23.1-q23.2 chr10:85599552-86366795 0 No evidence available 0 No evidence available 2011-12-21 GRIK2 2898 6q16.3 chr6:101393708-102070083 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2012-09-05 611092 GRIN2A 2903 16p13.2 chr16:9753404-10182928 1 Little evidence for dosage pathogenicity 20890276 0 No evidence available 2013-06-19 613971 GRIN2B 2904 12p13.1 chr12:13537337-13982012 3 Sufficient evidence for dosage pathogenicity 23160955 20890276 28377535 0 No evidence available 2019-09-25 613970 GRIN3B 116444 19p13.3 chr19:1000419-1009748 40 Dosage sensitivity unlikely 32487729 22344438 28406212 25807282 32461654 0 No evidence available 2021-02-02 GRIP1 23426 12q14.3 chr12:66347431-67069338 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2012-07-10 219000 GRM6 2916 5q35.3 chr5:178978327-178995320 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2016-08-22 257270 GRXCR1 389207 4p13 chr4:42892713-43030658 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2018-03-06 613285 GTF2H5 404672 6q25.3 chr6:158168316-158199344 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2016-08-22 616395 GTF2I 2969 7q11.23 chr7:74657718-74760692 0 No evidence available 0 No evidence available 2012-08-08 GTF2IRD1 9569 7q11.23 chr7:74453906-74603070 0 No evidence available 0 No evidence available 2012-10-10 GTF2IRD2 84163 7q11.23 chr7:74796144-74851576 0 No evidence available 0 No evidence available 2013-12-04 GUCA1C 9626 3q13.13 chr3:108907644-108955195 40 Dosage sensitivity unlikely 32487729 22344438 25807282 32461654 0 No evidence available 2021-02-02 GUCY2C 2984 12p12.3 chr12:14612632-14696625 0 No evidence available 0 No evidence available 2013-09-18 GUSB 2990 7q11.21 chr7:65960684-65982230 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2015-10-11 253220 GYS2 2998 12p12.1 chr12:21531527-21604858 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2016-08-22 240600 H19 283120 11p15.5 chr11:1995176-2001466 0 No evidence available 0 No evidence available 2012-03-22 H6PD 9563 1p36.22 chr1:9234767-9271337 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2016-08-22 604931 HBA1 3039 16p13.3 chr16:176680-177522 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2012-04-19 HBA2 3040 16p13.3 chr16:172876-173710 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2012-07-06 HDAC4 9759 2q37.3 chr2:239048168-239401649 1 Little evidence for dosage pathogenicity 20691407 0 No evidence available 2011-11-07 600430 HDAC8 55869 Xq13.1 chrX:72329516-72573099 3 Sufficient evidence for dosage pathogenicity 22885700 24403048 26671848 0 No evidence available 2018-03-28 300882 HFE 3077 6p22.2 chr6:26087347-26098343 30 Gene associated with autosomal recessive phenotype 18809761 0 No evidence available 2016-11-10 235200 HFM1 164045 1p22.2 chr1:91260766-91408008 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2016-08-22 615724 HIRA 7290 22q11.21 chr22:19330698-19431733 0 No evidence available 0 No evidence available 2012-08-28 HIST1H1E 3008 6p22.2 chr6:26156331-26157115 3 Sufficient evidence for dosage pathogenicity 28475857 29704315 29383847 0 No evidence available 2019-06-26 617537 HIVEP2 3097 6q24.2 chr6:142751469-142945756 3 Sufficient evidence for dosage pathogenicity 27003583 26153216 23020937 0 No evidence available 2018-04-25 616977 HIVEP3 59269 1p34.2 chr1:41506365-42035934 1 Little evidence for dosage pathogenicity 29302074 27824329 25849321 0 No evidence available 2019-01-23 HLCS 3141 21q22.13 chr21:36748625-36990255 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2016-08-22 253270 HMBS 3145 11q23.3 chr11:119084864-119093549 3 Sufficient evidence for dosage pathogenicity 19460837 12372055 10790212 0 No evidence available 2020-01-08 176000 HMGA2 8091 12q14.3 chr12:65824460-65966291 2 Some evidence for dosage pathogenicity 19298872 25809938 0 No evidence available 2017-02-02 HNF1B 6928 17q12 chr17:37686431-37745059 3 Sufficient evidence for dosage pathogenicity 10720943 15068978 9398836 0 No evidence available 2020-12-21 137920 HNRNPK 3190 9q21.32 chr9:83968083-83980630 3 Sufficient evidence for dosage pathogenicity 26173930 26954065 0 No evidence available 2016-08-11 616580 HOXD13 3239 2q31.1 chr2:176087487-176095944 3 Sufficient evidence for dosage pathogenicity 31611522 22233338 9758628 0 No evidence available 2020-09-23 186000 HOXD9 3235 2q31.1 chr2:176122719-176124937 0 No evidence available 0 No evidence available 2012-02-22 HPGD 3248 4q34.1 chr4:174490175-174522893 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2016-08-22 HPRT1 3251 Xq26.2-q26.3 chrX:134460165-134500668 3 Sufficient evidence for dosage pathogenicity 11018746 0 No evidence available 2021-01-13 300322 HPSE2 60495 10q24.2 chr10:98457077-99235875 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2015-03-11 236730 HRAS 3265 11p15.5 chr11:532242-535576 0 No evidence available 0 No evidence available 2015-10-15 HSD17B10 3028 Xp11.22 chrX:53431258-53434376 0 No evidence available 0 No evidence available 2012-09-06 HSD17B13 345275 4q22.1 chr4:87303794-87322882 40 Dosage sensitivity unlikely 32487729 22344438 26940866 32461654 0 No evidence available 2021-02-02 HSD17B4 3295 5q23.1 chr5:119452497-119542332 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2018-03-06 233400 HSD3B7 80270 16p11.2 chr16:30985189-30989152 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2016-08-22 607765 HSPG2 3339 1p36.12 chr1:21822244-21937310 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2016-06-02 HTN3 3347 4q13.3 chr4:70028459-70036538 40 Dosage sensitivity unlikely 32487729 22344438 32461654 0 No evidence available 2021-02-02 HUWE1 10075 Xp11.22 chrX:53532096-53686723 0 No evidence available 0 No evidence available 2018-09-26 300706 300706 HYMAI 57061 6q24.2 chr6:144004916-144008730 0 No evidence available 0 No evidence available 2012-09-06 IDS 3423 Xq28 chrX:149476988-149505306 3 Sufficient evidence for dosage pathogenicity 22976768 24125893 0 No evidence available 2020-11-10 309900 IFT27 11020 22q12.3 chr22:36758208-36776119 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2016-08-22 IGF1R 3480 15q26.3 chr15:98648539-98964530 3 Sufficient evidence for dosage pathogenicity 14657428 19240156 21811077 0 No evidence available 2012-08-23 270450 IGF2 3481 11p15.5 chr11:2129112-2149603 0 No evidence available 0 No evidence available 2012-03-22 IGF2R 3482 6q25.3 chr6:159969082-160111504 0 No evidence available 0 No evidence available 2012-06-07 IGHMBP2 3508 11q13.3 chr11:68903855-68940601 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2016-08-22 IGLL1 3543 22q11.23 chr22:23573125-23580290 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2016-08-22 613500 IKBKG 8517 Xq28 chrX:154541238-154565046 3 Sufficient evidence for dosage pathogenicity 15229184 10839543 22121116 0 No evidence available 24721901 2020-11-10 308300 IL10RA 3587 11q23.3 chr11:117986394-118003037 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2016-08-22 613148 IL1RAPL1 11141 Xp21.3-p21.2 chrX:28587446-29956718 3 Sufficient evidence for dosage pathogenicity 22031302 21933724 21271657 0 No evidence available 2012-08-23 300143 IL21R 50615 16p12.1 chr16:27402162-27452043 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2016-08-22 IMPA1 3612 8q21.13 chr8:81656914-81686325 0 No evidence available 0 No evidence available 2012-02-08 INPP5E 56623 9q34.3 chr9:136428619-136439861 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2016-08-22 INS 3630 11p15.5 chr11:2159779-2161209 0 No evidence available 0 No evidence available 2012-03-22 IQSEC2 23096 Xp11.22 chrX:53225784-53321356 3 Sufficient evidence for dosage pathogenicity 20473311 21479374 23674175 0 No evidence available 2020-04-07 309530 IRAK4 51135 12q12 chr12:43758909-43789543 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2016-08-22 IRF6 3664 1q32.2 chr1:209785617-209806142 3 Sufficient evidence for dosage pathogenicity 0 No evidence available 2012-07-06 119300 ITGA3 3675 17q21.33 chr17:50056065-50090481 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2016-08-22 614748 ITGB3 3690 17q21.32 chr17:47253827-47313743 0 No evidence available 0 No evidence available 2012-08-27 ITK 3702 5q33.3 chr5:157180840-157255185 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2016-08-22 613011 ITSN1 6453 21q22.11 chr21:33642452-33899861 1 Little evidence for dosage pathogenicity 24463507 25621899 24458657 0 No evidence available 2018-06-27 IYD 389434 6q25.1 chr6:150368854-150405969 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2016-08-22 274800 JAG1 182 20p12.2 chr20:10637684-10673999 3 Sufficient evidence for dosage pathogenicity 9585603 12497640 16575836 0 No evidence available 2020-10-19 118450 JAM3 83700 11q25 chr11:134069072-134152001 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2015-06-11 613730 JARID2 3720 6p22.3 chr6:15245975-15522042 0 No evidence available 0 No evidence available 2013-11-07 KANK1 23189 9p24.3 chr9:470295-746104 0 No evidence available 0 No evidence available 2016-04-28 KANSL1 284058 17q21.31 chr17:46027335-46225370 3 Sufficient evidence for dosage pathogenicity 22544363 22544367 0 No evidence available 2013-04-11 610443 KARS 3735 16q23.1 chr16:75627724-75647687 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2016-08-22 KAT6A 7994 8p11.21 chr8:41929479-42051988 3 Sufficient evidence for dosage pathogenicity 25728777 27133397 25728775 0 No evidence available 2018-03-28 616268 KAT6B 23522 10q22.2 chr10:74824927-75032624 3 Sufficient evidence for dosage pathogenicity 22077973 22265014 25424711 0 No evidence available 2018-04-25 603736 KATNAL2 83473 18q21.1 chr18:46917550-47104795 1 Little evidence for dosage pathogenicity 22495311 22495309 28191889 0 No evidence available 2018-11-28 KCNH2 3757 7q36.1 chr7:150944956-150978321 3 Sufficient evidence for dosage pathogenicity 18774102 24530480 0 No evidence available 2020-02-26 613688 KCNJ1 3758 11q24.3 chr11:128838020-128867296 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2012-03-22 241200 KCNK9 51305 8q24.3 chr8:139600838-139703135 0 No evidence available 0 No evidence available 2012-02-29 612292 KCNQ1 3784 11p15.5-p15.4 chr11:2445008-2849110 3 Sufficient evidence for dosage pathogenicity 26669661 29532034 23098067 0 No evidence available 2020-10-13 192500 KCNQ1OT1 10984 11p15.5 chr11:2608328-2699998 1 Little evidence for dosage pathogenicity 15372379 2 Some evidence for dosage pathogenicity 21920939 21780245 2012-03-22 130650 KCNQ2 3785 20q13.33 chr20:63400208-63472655 3 Sufficient evidence for dosage pathogenicity 17675531 14534157 0 No evidence available 2013-07-18 121200 KDM5B 10765 1q32.1 chr1:202724495-202809470 1 Little evidence for dosage pathogenicity 24307393 28720891 25363768 0 No evidence available 2018-01-04 KDM5C 8242 Xp11.22 chrX:53176277-53225207 3 Sufficient evidence for dosage pathogenicity 15586325 18697827 19826449 0 No evidence available 2012-08-23 300534 KDM6A 7403 Xp11.3 chrX:44873182-45112779 3 Sufficient evidence for dosage pathogenicity 22197486 23076834 0 No evidence available 2013-07-18 300867 KDM6B 23135 17p13.1 chr17:7834210-7854796 1 Little evidence for dosage pathogenicity 25363768 0 No evidence available 2018-11-28 KIAA2022 340533 Xq13.3 chrX:74732856-74925452 3 Sufficient evidence for dosage pathogenicity 2756881 27358180 27568816 0 No evidence available 2019-06-26 300524 KIF11 3832 10q23.33 chr10:92593130-92655395 3 Sufficient evidence for dosage pathogenicity 22284827 22653704 0 No evidence available 2013-08-01 152950 KIF1A 547 2q37.3 chr2:240713767-240821403 0 No evidence available 0 No evidence available 2013-08-08 KIF1C 10749 17p13.2 chr17:4997950-5028401 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2016-08-22 611302 KIF7 374654 15q26.1 chr15:89627977-89663086 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2016-08-22 KLF14 136259 7q32.2 chr7:130730697-130734207 0 No evidence available 0 No evidence available 2012-04-28 KLF8 11279 Xp11.21 chrX:55908123-56291531 0 No evidence available 0 No evidence available 2012-10-12 KLK12 43849 19q13.41 chr19:51028954-51035648 40 Dosage sensitivity unlikely 32487729 22344438 32461654 0 No evidence available 2021-02-02 KMT2A 4297 11q23.3 chr11:118436492-118526832 3 Sufficient evidence for dosage pathogenicity 22795537 24818805 27759909 0 No evidence available 2018-05-23 605130 KMT2B 9757 19q13.12 chr19:35717818-35738878 3 Sufficient evidence for dosage pathogenicity 27839873 27992417 0 No evidence available 2017-05-11 617284 KMT2C 58508 7q36.1 chr7:152134925-152436642 3 Sufficient evidence for dosage pathogenicity 23375656 22726846 29069077 0 No evidence available 2018-01-24 KMT2D 8085 12q13.12 chr12:49018975-49060884 3 Sufficient evidence for dosage pathogenicity 20711175 21671394 21607748 0 No evidence available 2020-01-23 147920 KRAS 3845 12p12.1 chr12:25205246-25250929 0 No evidence available 0 No evidence available 2015-10-08 KRT24 192666 17q21.2 chr17:40694246-40703752 40 Dosage sensitivity unlikely 32487729 32461654 0 No evidence available 2021-02-02 KRT37 8688 17q21.2 chr17:41420547-41424585 40 Dosage sensitivity unlikely 32487729 32461654 0 No evidence available 2021-02-02 L1CAM 3897 Xq28 chrX:153861514-153886173 3 Sufficient evidence for dosage pathogenicity 19846429 23820807 0 No evidence available 23820807 2020-12-02 307000 L3MBTL1 26013 20q13.12 chr20:43507697-43550954 0 No evidence available 0 No evidence available 2012-08-29 LAMA1 284217 18p11.31 chr18:6941742-7117797 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2016-08-22 615960 LAMA2 3908 6q22.33 chr6:128883138-129516566 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2018-11-28 LAMP2 3920 Xq24 chrX:120426148-120469349 3 Sufficient evidence for dosage pathogenicity 20173215 19588270 19057086 27145725 10972294 16565504 0 No evidence available 2021-02-09 300257 LARGE1 9215 22q12.3 chr22:33162237-33922824 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2016-08-22 LBR 3930 1q42.12 chr1:225401502-225428821 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2015-02-23 LBX1 10660 10q24.32 chr10:101226976-101228960 0 No evidence available 0 No evidence available 2014-08-21 246560 LCT 3938 2q21.3 chr2:135787850-135837195 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2016-08-22 223000 LDLR 3949 19p13.2 chr19:11089432-11133820 3 Sufficient evidence for dosage pathogenicity 26482752 0 No evidence available 2015-11-16 143890 LEMD3 23592 12q14.3 chr12:65169583-65248355 3 Sufficient evidence for dosage pathogenicity 15489854 17087626 19438932 0 No evidence available 2020-10-19 166700 LETM1 3954 4p16.3 chr4:1811479-1856156 0 No evidence available 0 No evidence available 2012-02-03 194190 LHX4 89884 1q25.2 chr1:180228372-180278984 3 Sufficient evidence for dosage pathogenicity 11567216 18445675 18073311 0 No evidence available 2012-07-06 262700 LIG4 3981 13q33.3 chr13:108207442-108218349 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2016-08-22 LIMK1 3984 7q11.23 chr7:74083804-74122525 0 No evidence available 0 No evidence available 2012-08-22 LINS1 55180 15q26.3 chr15:100566914-100603032 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2016-08-22 614340 LITAF 9516 16p13.13 chr16:11547722-11636377 0 No evidence available 0 No evidence available 2016-10-21 LMBR1 64327 7q36.3 chr7:156669012-156893183 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2012-10-18 LMNA 4000 1q22 chr1:156082573-156140081 2 Some evidence for dosage pathogenicity 20127487 12854972 12920062 0 No evidence available 2016-01-18 115200 LMNB1 4001 5q23.2 chr5:126776623-126837020 0 No evidence available 3 Sufficient evidence for dosage pathogenicity 19151023 21225301 2012-07-06 169500 LMTK3 114783 19q13.33 chr19:48485271-48513926 1 Little evidence for dosage pathogenicity 28263302 22542183 0 No evidence available 2018-07-25 LMX1B 4010 9q33.3 chr9:126613928-126701032 3 Sufficient evidence for dosage pathogenicity 9618165 9837817 18414507 0 No evidence available 2020-11-10 161200 LOXHD1 125336 18q21.1 chr18:46476961-46657220 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2016-08-22 613079 LPIN2 9663 18p11.31 chr18:2916994-3013201 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2016-08-22 609628 LRP2 4036 2q31.1 chr2:169127109-169362597 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2019-04-24 222448 LRP5 4041 11q13.2 chr11:68298866-68449275 2 Some evidence for dosage pathogenicity 15024691 20340138 0 No evidence available 2015-04-02 LRPPRC 10128 2p21 chr2:43886224-43995989 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2017-03-20 220111 LSS 4047 21q22.3 chr21:46188446-46228774 0 No evidence available 0 No evidence available 2012-09-06 LYRM7 90624 5q23.3-q31.1 chr5:131170944-131205428 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2016-08-22 615838 LYST 1130 1q42.3 chr1:235661031-235883713 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2016-08-22 214500 MAFB 9935 20q12 chr20:40685848-40689236 0 No evidence available 0 No evidence available 2015-05-21 MAGEL2 54551 15q11.2 chr15:23643549-23647867 1 Little evidence for dosage pathogenicity 0 No evidence available 2018-05-22 MAGT1 84061 Xq21.1 chrX:77825747-77895568 2 Some evidence for dosage pathogenicity 21796205 0 No evidence available 2013-06-19 300853 MALT1 10892 18q21.32 chr18:58671420-58754477 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2016-08-22 615468 MAN2B1 4125 19p13.13 chr19:12646511-12666742 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2016-08-22 248500 MAOA 4128 Xp11.3 chrX:43655006-43746817 1 Little evidence for dosage pathogenicity 8211186 0 No evidence available 2012-09-26 MAP2K1 5604 15q22.31 chr15:66386912-66491544 0 No evidence available 0 No evidence available 2015-10-13 MAP2K2 5605 19p13.3 chr19:4090321-4124184 1 Little evidence for dosage pathogenicity 0 No evidence available 2015-05-27 MAP3K1 4214 5q11.2 chr5:56815543-56896152 0 No evidence available 0 No evidence available 2013-08-22 MAPT 4137 17q21.31 chr17:45894538-46028334 0 No evidence available 0 No evidence available 2012-05-08 601104,600274,172700,260540 MARVELD2 153562 5q13.2 chr5:69415116-69444330 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2016-08-22 610153 MATN3 4148 2p24.1 chr2:19992052-20012668 0 No evidence available 0 No evidence available 2014-03-12 MBD5 55777 2q23.1 chr2:148021011-148516971 3 Sufficient evidence for dosage pathogenicity 23422940 21981781 1 Little evidence for dosage pathogenicity 2016-08-11 156200 MCCC1 56922 3q27.1 chr3:183015218-183099587 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2016-08-22 210200 MCEE 84693 2p13.3 chr2:71109684-71130288 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2015-03-25 251120 MCFD2 90411 2p21 chr2:46901870-46941855 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2016-08-22 613625 MECP2 4204 Xq28 chrX:154021573-154097717 3 Sufficient evidence for dosage pathogenicity 31206249 10508514 16647997 0 No evidence available 2021-02-22 312750 300260 MED12 9968 Xq13.1 chrX:71118596-71142450 0 No evidence available 24039113 0 No evidence available 2018-08-22 MED13L 23389 12q24.21 chr12:115958576-116277693 3 Sufficient evidence for dosage pathogenicity 24781760 25712080 25106414 1 Little evidence for dosage pathogenicity 25106414 2015-11-11 616789 MEF2C 4208 5q14.3 chr5:88717117-88904105 3 Sufficient evidence for dosage pathogenicity 23389741 20513142 19592390 1 Little evidence for dosage pathogenicity 2020-02-26 613443 MEFV 4210 16p13.3 chr16:3242027-3256776 0 No evidence available 0 No evidence available 2018-08-16 MEG3 55384 14q32.2 chr14:100826108-100861026 1 Little evidence for dosage pathogenicity 20585555 0 No evidence available 2012-04-25 608149 MEIS2 4212 15q14 chr15:36889204-37101311 2 Some evidence for dosage pathogenicity 20425846 24678003 0 No evidence available 2014-11-05 MEN1 4221 11q13.1 chr11:64803514-64811294 3 Sufficient evidence for dosage pathogenicity 0 No evidence available 2015-11-16 131100 MEST 4232 7q32.2 chr7:130486175-130506465 0 No evidence available 0 No evidence available 2012-04-04 MET 4233 7q31.2 chr7:116672196-116798386 0 No evidence available 0 No evidence available 2012-09-06 METTL23 124512 17q25.1 chr17:76726041-76733881 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2016-08-22 615942 MFHAS1 9258 8p23.1 chr8:8783354-8893630 0 No evidence available 0 No evidence available 2012-02-08 MFN2 9927 1p36.22 chr1:11980215-12013508 0 No evidence available 0 No evidence available 2017-02-02 MFRP 83552 11q23.3 chr11:119338942-119346705 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2016-08-22 MFSD8 256471 4q28.2 chr4:127917732-127965988 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2016-08-22 MGP 4256 12p12.3 chr12:14880864-14885854 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2021-02-08 MID2 11043 Xq22.3 chrX:107825735-107931637 0 No evidence available 0 No evidence available 2012-07-25 MITF 4286 3p13 chr3:69739464-69968332 3 Sufficient evidence for dosage pathogenicity 27889061 31427586 30936914 20127975 0 No evidence available 2021-04-13 193510 MKS1 54903 17q22 chr17:58205436-58219605 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2016-08-22 MLH1 4292 3p22.2 chr3:36993487-37050846 3 Sufficient evidence for dosage pathogenicity 14635101 15942939 0 No evidence available 2015-11-16 609310 MLYCD 23417 16q23.3 chr16:83899115-83927031 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2016-08-22 248360 MMAA 166785 4q31.21 chr4:145619385-145660033 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2016-08-22 251100 MMAB 326625 12q24.11 chr12:109553715-109573580 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2017-06-30 251110 MMADHC 27249 2q23.2 chr2:149569637-149587775 30 Gene associated with autosomal recessive phenotype 0 No evidence available 22085900 2016-07-21 277410 MNX1 3110 7q36.3 chr7:157004854-157010663 3 Sufficient evidence for dosage pathogenicity 18449898 10749657 0 No evidence available 2012-10-04 176450 MOCS2 4338 5q11.2 chr5:53095679-53109757 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2016-08-22 252160 MOV10 4343 1p13.2 chr1:112674312-112702377 0 No evidence available 24463507 25363768 27824329 0 No evidence available 2019-03-12 MPDZ 8777 9p23 chr9:13105296-13279692 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2016-08-22 615219 MSH2 4436 2p21-p16.3 chr2:47403067-47634501 3 Sufficient evidence for dosage pathogenicity 10850409 12203789 9843200 0 No evidence available 2015-07-09 120435 MSH3 4437 5q14.1 chr5:80654652-80876815 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2020-05-08 617100 MSH6 2956 2p16.3 chr2:47783145-47806954 3 Sufficient evidence for dosage pathogenicity 14974087 2815724 20487569 0 No evidence available 2015-11-16 614350 MSX1 4487 4p16.2 chr4:4859665-4863936 3 Sufficient evidence for dosage pathogenicity 11369996 10742093 15264286 0 No evidence available 2021-01-12 106600 MTAP 4507 9p21.3 chr9:21802636-21867081 1 Little evidence for dosage pathogenicity 0 No evidence available 2013-10-30 MTFMT 123263 15q22.31 chr15:65001512-65029639 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2016-08-22 614947 MTM1 4534 Xq28 chrX:150562658-150673143 3 Sufficient evidence for dosage pathogenicity 10790201 11793470 12522554 0 No evidence available 2021-01-11 310400 MTO1 25821 6q13 chr6:73461737-73509236 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2016-08-22 614702 MTR 4548 1q43 chr1:236794304-236903981 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2016-08-22 MTRR 4552 5p15.31 chr5:7851186-7901124 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2016-08-22 MTTP 4547 4q23 chr4:99564130-99623997 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2016-08-22 MUT 4594 6p12.3 chr6:49430360-49463328 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2016-08-25 251000 MUTYH 4595 1p34.1 chr1:45329242-45340447 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2015-11-11 608456 MYBPC3 4607 11p11.2 chr11:47331406-47352702 3 Sufficient evidence for dosage pathogenicity 7493025 7493026, 23870641, 9562578 19574547 0 No evidence available 2015-11-12 115197 MYCN 4613 2p24.3 chr2:15940550-15947004 3 Sufficient evidence for dosage pathogenicity 16906565 18671284 18470948 0 No evidence available 2017-07-12 164280 MYH10 4628 17p13.1 chr17:8474212-8631369 1 Little evidence for dosage pathogenicity 25003005 25284784 25363768 0 No evidence available 2019-01-23 MYH11 4629 16p13.11 chr16:15703135-15857032 0 No evidence available 16444274 21937134 17666408, 22968129 0 No evidence available 21698135 2015-11-12 160745 132900 MYH7 4625 14q11.2 chr14:23412740-23435677 0 No evidence available 0 No evidence available 2015-11-15 MYL2 4633 12q24.11 chr12:110910845-110920579 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2015-11-20 608758 MYL3 4634 3p21.31 chr3:46857872-46863444 0 No evidence available 0 No evidence available 2015-11-18 MYLK 4638 3q21.1 chr3:123610049-123884332 1 Little evidence for dosage pathogenicity 21055718 25907466 0 No evidence available 2016-01-14 613780 MYO1E 4643 15q22.2 chr15:59132434-59372871 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2016-08-22 614131 MYO3A 53904 10p12.1 chr10:25934229-26212536 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2018-03-06 607101 MYO5A 4644 15q21.2 chr15:52307283-52529050 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2016-08-22 214450 MYO5B 4645 18q21.1 chr18:49822789-50195147 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2015-04-08 251850 MYT1L 23040 2p25.3 chr2:1789113-2331388 3 Sufficient evidence for dosage pathogenicity 27824329 23033978 25232846 0 No evidence available 2017-03-09 616521 NAA15 80155 4q31.1 chr4:139301499-139391384 3 Sufficient evidence for dosage pathogenicity 28191889 29656860 28263302 0 No evidence available 2021-04-13 NAALADL2 254827 3q26.31 chr3:174438534-175810548 0 No evidence available 15168106 22106001 0 No evidence available 2016-01-07 NAT8L 339983 4p16.3 chr4:2059327-2069089 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2016-08-22 614063 NBEA 26960 13q13.3 chr13:34942270-35672736 3 Sufficient evidence for dosage pathogenicity 30269351 12746398 0 No evidence available 2019-06-26 NBN 4683 8q21.3 chr8:89933331-89984698 3 Sufficient evidence for dosage pathogenicity 17957789 30590007 22864661 0 No evidence available 2020-08-21 NCF1 653361 7q11.23 chr7:74773962-74789376 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2012-10-10 233700 NCF2 4688 1q25.3 chr1:183555562-183590914 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2016-08-22 NCKAP1 10787 2q32.1 chr2:182909115-183038457 3 Sufficient evidence for dosage pathogenicity 27632392 27824329 28940097 0 No evidence available 2017-12-27 NDE1 54820 16p13.11 chr16:15643267-15726353 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2016-04-29 NDN 4692 15q11.2 chr15:23685400-23687305 0 No evidence available 0 No evidence available 2012-04-26 NDP 4693 Xp11.3 chrX:43948776-43973390 3 Sufficient evidence for dosage pathogenicity 8790105 1301161 1307245 0 No evidence available 2012-06-14 310600 NDUFA1 4694 Xq24 chrX:119871832-119876662 0 No evidence available 0 No evidence available 2012-07-25 NDUFA10 4705 2q37.3 chr2:239892442-240025343 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2016-08-22 256000 NDUFAF1 51103 15q15.1 chr15:41387353-41402501 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2016-08-22 252010 NDUFAF2 91942 5q12.1 chr5:60945205-61153026 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2016-08-22 NDUFAF5 79133 20p12.1 chr20:13785026-13821580 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2016-08-22 252010 NDUFS6 4726 5p15.33 chr5:1801407-1816048 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2016-08-22 252010 NDUFS7 374291 19p13.3 chr19:1383904-1395584 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2016-08-22 256000 NDUFS8 4728 11q13.2 chr11:68030681-68036644 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2016-08-22 256000 NDUFV1 4723 11q13.2 chr11:67606936-67612554 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2012-03-22 252010 NDUFV2 4729 18p11.22 chr18:9102642-9134341 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2016-08-22 252010 NEBL 10529 10p12.31 chr10:20779973-21293050 0 No evidence available 0 No evidence available 2011-12-21 NEDD9 4739 6p24.2 chr6:11183298-11382348 1 Little evidence for dosage pathogenicity 25363768 0 No evidence available 2019-02-27 NEFL 4747 8p21.2 chr8:24950955-24956612 0 No evidence available 20039262 19158810 0 No evidence available 2018-09-17 NEK1 4750 4q33 chr4:169392809-169612629 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2013-08-01 263520 NELFA 7469 4p16.3 chr4:1982717-2041914 0 No evidence available 0 No evidence available 2012-09-06 NF1 4763 17q11.2 chr17:31094927-31377677 3 Sufficient evidence for dosage pathogenicity 1757093 1302608 0 No evidence available 2012-07-12 162200 NF2 4771 22q12.2 chr22:29603556-29698600 3 Sufficient evidence for dosage pathogenicity 7913580 9817927 11159946 0 No evidence available 2020-09-08 101000 NFIA 4774 1p31.3 chr1:61077227-61462788 3 Sufficient evidence for dosage pathogenicity 22031302 24462883 27081522 0 No evidence available 2017-01-12 613735 NGLY1 55768 3p24.2 chr3:25718944-25790039 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2015-02-18 615273 NHP2 55651 5q35.3 chr5:178149463-178153885 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2015-03-04 NHS 4810 Xp22.2-p22.13 chrX:17375200-17735994 3 Sufficient evidence for dosage pathogenicity 14564667 15623749 16736028 22229851 28061824 0 No evidence available 2021-04-28 302350 NIPA1 123606 15q11.2 chr15:22786225-22829789 0 No evidence available 0 No evidence available 2012-04-04 NIPA2 81614 15q11.2 chr15:22838641-22868384 0 No evidence available 0 No evidence available 2012-04-04 NIPBL 25836 5p13.2 chr5:36876769-37066413 3 Sufficient evidence for dosage pathogenicity 15146185 15146186 15318302 1 Little evidence for dosage pathogenicity 23085304 19052029 2020-08-26 122470 NKX2-5 1482 5q35.1 chr5:173232109-173235321 3 Sufficient evidence for dosage pathogenicity 28690296 26679770 17891520 0 No evidence available 2020-07-22 NLGN1 22871 3q26.31 chr3:173395929-174294372 0 No evidence available 15551338 22106001 0 No evidence available 2016-03-25 NLGN3 54413 Xq13.1 chrX:71144389-71175307 0 No evidence available 0 No evidence available 2012-07-25 NNAT 4826 20q11.23 chr20:37521250-37523690 0 No evidence available 0 No evidence available 2012-04-28 NODAL 4838 10q22.1 chr10:70431936-70447951 1 Little evidence for dosage pathogenicity 19064609 0 No evidence available 2013-08-08 NOG 9241 17q22 chr17:56593699-56595611 3 Sufficient evidence for dosage pathogenicity 12089654 16532400 11846737 0 No evidence available 2021-01-12 186500 NOTCH2 4853 1p12 chr1:119911553-120069662 0 No evidence available 0 No evidence available 2014-07-17 610205 NPHP1 4867 2q13 chr2:110123348-110205013 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2012-10-10 NPHS1 4868 19q13.12 chr19:35825372-35852504 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2016-08-22 256300 NPTX2 4885 7q22.1 chr7:98617285-98629869 0 No evidence available 0 No evidence available 2012-10-10 NR0B1 190 Xp21.2 chrX:30304206-30309390 3 Sufficient evidence for dosage pathogenicity 16684822 15841486 11748852 0 No evidence available 2020-05-05 300200 NR2F2 7026 15q26.2 chr15:96326046-96340263 0 No evidence available 0 No evidence available 2012-07-10 NR3C2 4306 4q31.23 chr4:148078764-148444698 3 Sufficient evidence for dosage pathogenicity 9662404 16954160 27725360 0 No evidence available 2020-04-06 177735 NR4A2 4929 2q24.1 chr2:156324432-156332724 1 Little evidence for dosage pathogenicity 28544326 29770430 31428396 32366965 31922365 0 No evidence available 2021-05-11 NR5A1 2516 9q33.3 chr9:124481236-124507399 3 Sufficient evidence for dosage pathogenicity 15579739 15472171 21654157 22028768 17488792 19246354 0 No evidence available 2021-02-24 612965 NRG3 10718 10q23.1 chr10:81875190-82989979 0 No evidence available 0 No evidence available 21248748 2011-12-21 NSD1 64324 5q35.3 chr5:177131835-177300213 3 Sufficient evidence for dosage pathogenicity 11896389 17565729 23190751 0 No evidence available 2020-07-27 117550 NSDHL 50814 Xq28 chrX:152831001-152869729 3 Sufficient evidence for dosage pathogenicity 0 No evidence available 2019-09-25 308050 NTAN1 123803 16p13.11 chr16:15037853-15056074 0 No evidence available 0 No evidence available 2018-09-17 NTHL1 4913 16p13.3 chr16:2039820-2047834 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2020-07-06 616415 NUDT13 25961 10q22.2 chr10:73110455-73131827 40 Dosage sensitivity unlikely 32487729 22344438 28406212 25807282 32461654 0 No evidence available 2021-02-02 NXF5 55998 Xq22.1 chrX:101832112-101857577 1 Little evidence for dosage pathogenicity 11566096 0 No evidence available 2012-05-17 NYX 60506 Xp11.4 chrX:41447343-41475652 3 Sufficient evidence for dosage pathogenicity 11062472 11062471 18617546 0 No evidence available 2020-01-22 310500 OBSL1 23363 2q35 chr2:219549408-219571573 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2016-08-22 612921 OCA2 4948 15q12-q13.1 chr15:27719008-28099342 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2012-04-28 OCRL 4952 Xq26.1 chrX:129540259-129592556 3 Sufficient evidence for dosage pathogenicity 10923037 21031565 31674016 0 No evidence available 2021-01-12 309000 OFD1 8481 Xp22.2 chrX:13734726-13773978 3 Sufficient evidence for dosage pathogenicity 11179005 11950863 18546297 23033313 0 No evidence available 2021-04-13 311200 OPHN1 4983 Xq12 chrX:68042344-68433841 3 Sufficient evidence for dosage pathogenicity 9582072 16221952 20528889 0 No evidence available 2012-07-27 300486 OR5AU1 390445 14q11.2 chr14:21154865-21156063 0 No evidence available 0 No evidence available 2015-03-11 ORC4 5000 2q23.1 chr2:147930396-148021551 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2015-11-05 613800 OSBPL5 114879 11p15.4 chr11:3087107-3165310 0 No evidence available 0 No evidence available 2012-09-06 OSTM1 28962 6q21 chr6:108041409-108074741 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2016-08-22 259720 OTC 5009 Xp11.4 chrX:38352528-38421446 3 Sufficient evidence for dosage pathogenicity 0 No evidence available 2012-06-28 311250 OTOA 146183 16p12.2 chr16:21663968-21762625 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2016-08-22 607039 OTOGL 283310 12q21.31 chr12:80099537-80380880 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2016-08-22 614944 OTUD7A 161725 15q13.3 chr15:31475398-31870673 0 No evidence available 0 No evidence available 2018-04-27 OTX2 5015 14q22.3 chr14:56799905-56810479 3 Sufficient evidence for dosage pathogenicity 24033328 19956411 18781617 0 No evidence available 2020-09-08 610125 P3H1 64175 1p34.2 chr1:42746374-42767028 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2015-03-11 610915 PAFAH1B1 5048 17p13.3 chr17:2593210-2685617 3 Sufficient evidence for dosage pathogenicity 11754098 19667223 0 No evidence available 2020-10-13 607432 613215 PAH 5053 12q23.2 chr12:102836889-102958441 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2014-08-28 261600 PAK2 5062 3q29 chr3:196739857-196832647 1 Little evidence for dosage pathogenicity 21841781 1 Little evidence for dosage pathogenicity 21841781 2011-12-27 PAK3 5063 Xq23 chrX:110944324-111227361 2 Some evidence for dosage pathogenicity 18523455 9731525 27753653 0 No evidence available 2019-12-09 300558 PARK7 11315 1p36.23 chr1:7961711-7985505 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2016-08-22 606324 PAX1 5075 20p11.22 chr20:21705664-21718481 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2016-08-22 615560 PAX2 5076 10q24.31 chr10:100735396-100829944 3 Sufficient evidence for dosage pathogenicity 21285886 11241473 22213154 0 No evidence available 2020-02-26 120330 PAX3 5077 2q36.1 chr2:222199887-222298998 3 Sufficient evidence for dosage pathogenicity 1347148 8490648 8533800 0 No evidence available 2020-05-27 193500 PAX6 5080 11p13 chr11:31789026-31817961 3 Sufficient evidence for dosage pathogenicity 1 Little evidence for dosage pathogenicity 21271670 2015-11-05 106210 PAX8 7849 2q14.1 chr2:113215997-113278921 2 Some evidence for dosage pathogenicity 9590296 22898500 0 No evidence available 2013-10-30 PAX9 5083 14q13.3 chr14:36657568-36679362 3 Sufficient evidence for dosage pathogenicity 28910570 11781684 24028587 0 No evidence available 2020-07-08 604625 PBX1 5087 1q23.3 chr1:164559184-164886047 3 Sufficient evidence for dosage pathogenicity 29036646 28566479 28270404 0 No evidence available 2019-09-05 PCCA 5095 13q32.3 chr13:100089020-100530435 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2016-08-22 606054 PCDH15 65217 10q21.1 chr10:53802771-55629182 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2016-08-22 PCDH19 57526 Xq22.1 chrX:100291644-100410273 3 Sufficient evidence for dosage pathogenicity 18469813 19214208 23712037 0 No evidence available 2013-06-06 300088 PCDH9 5101 13q21.32 chr13:66302834-67230336 0 No evidence available 0 No evidence available 2012-06-07 PCDHGA8 9708 5q31.3 chr5:141391916-141512979 40 Dosage sensitivity unlikely 32487729 25807282 28406212 32461654 0 No evidence available 2021-02-02 PCSK9 255738 1p32.3 chr1:55039548-55064852 40 Dosage sensitivity unlikely 19191301 15654334 0 No evidence available 2015-12-17 PCYT1A 5130 3q29 chr3:196234368-196287726 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2016-08-22 608940 PDE4D 5144 5q11.2-q12.1 chr5:58969038-60524329 0 No evidence available 0 No evidence available 2018-02-02 PDE6C 5146 10q23.33 chr10:93612537-93666010 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2016-08-22 613093 PDHA1 5160 Xp22.12 chrX:19343906-19361718 3 Sufficient evidence for dosage pathogenicity 1907799 9686362 10679936 0 No evidence available 2012-09-06 312170 PDX1 3651 13q12.2 chr13:27919982-27926313 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2016-08-22 PEG10 23089 7q21.3 chr7:94656325-94669695 0 No evidence available 0 No evidence available 2012-08-22 PEG3 5178 19q13.43 chr19:56810082-56840726 0 No evidence available 0 No evidence available 2012-05-17 PEX11B 8799 1q21.1 chr1:145911348-145918717 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2016-08-22 614920 PEX14 5195 1p36.22 chr1:10474946-10630758 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2016-08-22 614887 PEX16 9409 11p11.2 chr11:45909663-45917877 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2016-08-22 PEX26 55670 22q11.21 chr22:18077990-18105396 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2016-08-22 PEX3 8504 6q24.2 chr6:143450805-143490616 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2016-08-22 PGM3 5238 6q14.1 chr6:83150728-83193900 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2016-08-22 615816 PHC1 1911 12p13.31 chr12:8914509-8941467 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2016-08-22 615414 PHEX 5251 Xp22.11 chrX:22032325-22251310 3 Sufficient evidence for dosage pathogenicity 0 No evidence available 2012-06-28 307800 PHF2 5253 9q22.31 chr9:93576584-93679587 1 Little evidence for dosage pathogenicity 25363768 27824329 0 No evidence available 2019-02-27 PHF21A 51317 11p11.2 chr11:45929319-46121454 2 Some evidence for dosage pathogenicity 30487643 25262651 25363768 0 No evidence available 2020-05-27 PHF3 23469 6q12 chr6:63635802-63726011 1 Little evidence for dosage pathogenicity 25363768 28263302 0 No evidence available 2019-02-27 PHF6 84295 Xq26.2 chrX:134373312-134428790 3 Sufficient evidence for dosage pathogenicity 12415272 15994862 22190899 24092917 23906836 24380767 0 No evidence available 2021-02-24 301900 PHF8 23133 Xp11.22 chrX:53936680-54048935 3 Sufficient evidence for dosage pathogenicity 16199551 17594395 28135719 0 No evidence available 2020-08-26 300263 PHIP 55023 6q14.1 chr6:78934419-79078294 2 Some evidence for dosage pathogenicity 23033978 27900362 27824329 0 No evidence available 2018-03-28 PHKB 5257 16q12.1 chr16:47461299-47701523 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2016-08-22 261750 PHLDA2 7262 11p15.4 chr11:2928273-2929420 0 No evidence available 0 No evidence available 2012-03-22 PIGA 5277 Xp22.2 chrX:15319451-15335554 2 Some evidence for dosage pathogenicity 24706016 24357517 0 No evidence available 2014-11-04 300868 PIGO 84720 9p13.3 chr9:35085496-35096591 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2016-08-22 614749 PIGW 284098 17q12 chr17:36534987-36539303 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2016-08-22 616025 PIK3CA 5290 3q26.32 chr3:179148114-179240093 0 No evidence available 0 No evidence available 2015-03-12 PIK3R2 5296 19p13.11 chr19:18153163-18170532 0 No evidence available 0 No evidence available 2015-06-25 PITPNA 5306 17p13.3 chr17:1517718-1562803 0 No evidence available 0 No evidence available 2012-06-07 PITX2 5308 4q25 chr4:110617423-110642123 3 Sufficient evidence for dosage pathogenicity 14985297 0 No evidence available 2012-07-06 180500 PITX3 5309 10q24.32 chr10:102230189-102241512 0 No evidence available 0 No evidence available 2013-11-06 PKD1 5310 16p13.3 chr16:2088708-2135898 3 Sufficient evidence for dosage pathogenicity 25491204 24694054 29529603 0 No evidence available 2020-06-10 173900 PKD2 5311 4q22.1 chr4:88007635-88077779 3 Sufficient evidence for dosage pathogenicity 8650545 9402976 0 No evidence available 2012-07-06 613095 PLAGL1 5325 6q24.2 chr6:143940300-144064599 0 No evidence available 0 No evidence available 2012-08-26 PLCB1 23236 20p12.3 chr20:8132266-8884900 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2016-08-22 613722 PLEKHG5 57449 1p36.31 chr1:6466092-6520092 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2016-08-22 PLOD3 8985 7q22.1 chr7:101205984-101217581 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2016-08-22 612394 PLP1 5354 Xq22.2 chrX:103776506-103792619 3 Sufficient evidence for dosage pathogenicity 21679407 1720927 16416265 12297985 11093273 11071483 3 Sufficient evidence for dosage pathogenicity 15689360 10417279 19376225 9634530 2021-04-12 312080 312080 PMM2 5373 16p13.2 chr16:8797813-8849326 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2016-08-22 212065 PMP22 5376 17p12 chr17:15229779-15265326 3 Sufficient evidence for dosage pathogenicity 8012388 9040737 9712007 0 No evidence available 2012-07-12 162500 118220 PMS2 5395 7p22.1 chr7:5970925-6009106 3 Sufficient evidence for dosage pathogenicity 18602922 23837913 22585707 0 No evidence available 2015-11-15 614337 PNP 4860 14q11.2 chr14:20469406-20477089 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2016-08-22 613179 POGZ 23126 1q21.3 chr1:151402724-151459494 3 Sufficient evidence for dosage pathogenicity 27148570 26942287 26739615 0 No evidence available 2017-12-27 616364 POLD1 5424 19q13.33 chr19:50384291-50418018 1 Little evidence for dosage pathogenicity 0 No evidence available 2020-06-05 POLE 5426 12q24.33 chr12:132623758-132687519 1 Little evidence for dosage pathogenicity 23585368 29020732 0 No evidence available 2019-12-16 POLH 5429 6p21.1 chr6:43576147-43620523 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2016-08-22 278750 POLL 27343 10q24.32 chr10:101578882-101588319 0 No evidence available 0 No evidence available 2011-12-21 246560 POLR1D 51082 13q12.2 chr13:27620743-27667415 2 Some evidence for dosage pathogenicity 21131976 0 No evidence available 2013-08-01 613717 POMP 51371 13q12.3 chr13:28659130-28678959 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2015-08-27 601952 PORCN 64840 Xp11.23 chrX:48508992-48520814 3 Sufficient evidence for dosage pathogenicity 17546030 17546031 20854095 0 No evidence available 2012-08-23 305600 PPIB 5479 15q22.31 chr15:64155817-64163022 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2016-08-22 259440 PPIP5K1 9677 15q15.3 chr15:43533462-43590272 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2012-08-26 603720 PPP1R9A 55607 7q21.3 chr7:94907202-95296415 0 No evidence available 0 No evidence available 2012-04-04 PPT1 5538 1p34.2 chr1:40071461-40097252 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2016-08-22 256730 PQBP1 10084 Xp11.23 chrX:48897862-48903143 3 Sufficient evidence for dosage pathogenicity 20950397 17033686 21315190 0 No evidence available 2020-04-09 309500 PRCD 768206 17q25.1 chr17:76527586-76555339 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2016-08-22 610599 PRDM6 93166 5q23.2 chr5:123089148-123194266 0 No evidence available 0 No evidence available 2017-12-14 PREPL 9581 2p21 chr2:44317607-44361862 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2012-03-21 616224 PRG4 10216 1q31.1 chr1:186296273-186314567 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2016-08-22 208250 PRKAG2 51422 7q36.1 chr7:151556124-151877115 0 No evidence available 0 No evidence available 2015-11-05 PRKN 5071 6q26 chr6:161347417-162727802 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2018-05-15 PROP1 5626 5q35.3 chr5:177992235-177996242 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2016-08-22 262600 PRSS1 5644 7q34 chr7:142740235-142753076 0 No evidence available 0 No evidence available 2012-10-29 18063422 PSD3 23362 8p22 chr8:18527303-19086909 0 No evidence available 0 No evidence available 2016-12-07 PSORS1C2 170680 6p21.33 chr6:31137534-31139066 40 Dosage sensitivity unlikely 32487729 22344438 25807282 32461654 0 No evidence available 2021-02-02 PSPH 5723 7p11.2 chr7:56010487-56051604 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2016-08-22 614023 PTCH1 5727 9q22.32 chr9:95442980-95516971 3 Sufficient evidence for dosage pathogenicity 30411536 21368767 29575684 0 No evidence available 18830227 2020-07-01 109400 PTCHD1 139411 Xp22.11 chrX:23334369-23404374 3 Sufficient evidence for dosage pathogenicity 25131214 20844286 25533962 0 No evidence available 2018-02-28 300830 PTEN 5728 10q23.31 chr10:87863625-87971930 3 Sufficient evidence for dosage pathogenicity 21194675 32003824 0 No evidence available 2020-06-24 PTHLH 5744 12p11.22 chr12:27958084-27972864 2 Some evidence for dosage pathogenicity 20170896 30458061 29947179 1 Little evidence for dosage pathogenicity 26733284 2019-01-10 613382 PTPN11 5781 12q24.13 chr12:112418915-112509918 3 Sufficient evidence for dosage pathogenicity 20577567 21533187 26984661 0 No evidence available 18348260 19760651 2020-09-08 156250 163950 PTS 5805 11q23.1 chr11:112226428-112233973 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2016-08-22 261640 PURA 5813 5q31.3 chr5:140114109-140125619 3 Sufficient evidence for dosage pathogenicity 25342064 25439098 27148565 0 No evidence available 2017-06-07 616158 PXDN 7837 2p25.3 chr2:1631887-1744852 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2016-08-22 269400 RAB39B 116442 Xq28 chrX:155258235-155264491 3 Sufficient evidence for dosage pathogenicity 20159109 21076407 23871722 0 No evidence available 2020-05-29 300774 RAB3GAP2 25782 1q41 chr1:220148293-220272453 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2016-08-22 RABL2A 11159 2q14.1 chr2:113627218-113643392 40 Dosage sensitivity unlikely 32487729 25807282 32461654 0 No evidence available 2021-02-02 RAD51C 5889 17q22 chr17:58692140-58735611 3 Sufficient evidence for dosage pathogenicity 21990120 24800917 20400964 0 No evidence available 2020-07-08 RAD51D 5892 17q12 chr17:35092221-35119860 2 Some evidence for dosage pathogenicity 21822267 30165555 22986143 0 No evidence available 2019-10-09 614291 RAF1 5894 3p25.2 chr3:12583601-12664117 0 No evidence available 0 No evidence available 2018-09-13 RAI1 10743 17p11.2 chr17:17681376-17811453 3 Sufficient evidence for dosage pathogenicity 12652298 15565467 15788730 0 No evidence available 2020-10-13 182290 RALGAPB 57148 20q11.23 chr20:38472820-38578861 1 Little evidence for dosage pathogenicity 30564305 23934111 25363760 0 No evidence available 2019-02-27 RARS2 57038 6q15 chr6:87513938-87589996 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2015-04-08 611523 RASA1 5921 5q14.3 chr5:87267845-87391916 3 Sufficient evidence for dosage pathogenicity 24038909 29891884 0 No evidence available 2020-04-22 608354 RB1 5925 13q14.2 chr13:48303751-48481890 3 Sufficient evidence for dosage pathogenicity 2601691 8651278 28575107 27126562 0 No evidence available 2021-03-09 180200 RB1CC1 9821 8q11.23 chr8:52622458-52714466 1 Little evidence for dosage pathogenicity 28263302 21822266 0 No evidence available 26151896 21841781 2018-07-25 RBP3 5949 10q11.22 chr10:47348363-47357881 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2016-08-22 615233 RCAN1 1827 21q22.12 chr21:34516442-34615123 0 No evidence available 0 No evidence available 2012-04-26 RDX 5962 11q22.3 chr11:110174922-110296614 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2016-08-22 611022 RELN 5649 7q22.1 chr7:103471789-103989658 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2012-08-26 RET 5979 10q11.21 chr10:43077069-43130351 3 Sufficient evidence for dosage pathogenicity 11694544 11953745 30970187 0 No evidence available 2020-08-26 142623 RFX6 222546 6q22.1 chr6:116877218-116932163 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2015-09-18 615710 RIMS1 22999 6q13 chr6:71886703-72403145 1 Little evidence for dosage pathogenicity 22542183 25284784 27824329 0 No evidence available 2018-01-24 RIPK4 54101 21q22.3 chr21:41739373-41767052 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2016-08-22 263650 RMND1 55005 6q25.1 chr6:151404548-151452169 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2016-08-22 614922 RNF135 84282 17q11.2 chr17:30968642-30999911 2 Some evidence for dosage pathogenicity 17632510 0 No evidence available 2013-02-27 RNF168 165918 3q29 chr3:196468783-196503768 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2016-08-22 611943 RNF32 140545 7q36.3 chr7:156640202-156678333 40 Dosage sensitivity unlikely 32487729 22344438 25807282 32461654 0 No evidence available 2021-02-02 ROBO1 6091 3p12.3 chr3:78597239-79767998 0 No evidence available 16254601 0 No evidence available 2018-09-25 ROBO3 64221 11q24.2 chr11:124865432-124881471 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2016-08-22 607313 ROGDI 79641 16p13.3 chr16:4796967-4802860 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2015-02-12 226750 ROR2 4920 9q22.31 chr9:91722598-91950228 0 No evidence available 0 No evidence available 2013-03-27 RP2 6102 Xp11.3 chrX:46837043-46882358 3 Sufficient evidence for dosage pathogenicity 16969763 9697692 10090907 0 No evidence available 2012-10-04 312600 RPGRIP1 57096 14q11.2 chr14:21280083-21351316 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2016-08-22 RPH3A 22895 12q24.13 chr12:112575236-112898881 1 Little evidence for dosage pathogenicity 28263302 22083728 0 No evidence available 2018-07-25 RPL10 6134 Xq28 chrX:154398065-154402339 0 No evidence available 0 No evidence available 2018-10-24 RPL15 6138 3p24.2 chr3:23916545-23924631 1 Little evidence for dosage pathogenicity 23812780 0 No evidence available 2014-07-16 RPS17 6218 15q25.2 chr15:82536750-82540457 3 Sufficient evidence for dosage pathogenicity 23812780 20378560 17647292 0 No evidence available 2015-12-10 612527 RPS19 6223 19q13.2 chr19:41860255-41872925 3 Sufficient evidence for dosage pathogenicity 10590074 15384984 15059149 20960466 0 No evidence available 2021-03-24 105650 RPS24 6229 10q22.3 chr10:78033863-78056806 3 Sufficient evidence for dosage pathogenicity 23812780 17186470 0 No evidence available 2019-10-23 610629 RPS26 6231 12q13.2 chr12:56041918-56044697 3 Sufficient evidence for dosage pathogenicity 23812780 0 No evidence available 2019-10-23 613309 RPS6KA3 6197 Xp22.12 chrX:20149911-20267514 3 Sufficient evidence for dosage pathogenicity 8955270 9837815 0 No evidence available 2012-08-09 303600 RUNX1 861 21q22.12 chr21:34787801-35049334 3 Sufficient evidence for dosage pathogenicity 10508512 11830488 0 No evidence available 2012-08-14 601399 RXFP2 122042 13q13.1 chr13:31739526-31803389 0 No evidence available 0 No evidence available 2012-07-06 RYR1 6261 19q13.2 chr19:38433691-38587564 0 No evidence available 0 No evidence available 2015-11-12 117000,255320 RYR2 6262 1q43 chr1:237042184-237833988 0 No evidence available 0 No evidence available 2015-11-05 SACS 26278 13q12.12 chr13:23328827-23433728 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2016-08-22 270550 SALL1 6299 16q12.1 chr16:51135982-51151270 1 Little evidence for dosage pathogenicity 22308078 16429401 0 No evidence available 2021-01-27 107480 SALL4 57167 20q13.2 chr20:51782331-51802521 3 Sufficient evidence for dosage pathogenicity 16086360 30552424 17256792 0 No evidence available 2021-01-11 607323 SATB2 23314 2q33.1 chr2:199269500-199471266 3 Sufficient evidence for dosage pathogenicity 28139846 28151491 0 No evidence available 2020-07-15 119540 SCARB2 950 4q21.1 chr4:76158737-76213824 0 No evidence available 0 No evidence available 2012-07-06 SCARF2 91179 22q11.21 chr22:20424584-20437825 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2016-08-22 600920 SCN1A 6323 2q24.3 chr2:165984641-166149161 3 Sufficient evidence for dosage pathogenicity 11359211 11940708 18930999 0 No evidence available 2012-07-06 607208 SCN1B 6324 19q13.11 chr19:35030470-35040449 0 No evidence available 0 No evidence available 2019-09-04 SCN2A 6326 2q24.3 chr2:165208056-165392310 3 Sufficient evidence for dosage pathogenicity 22495306 15028761 28379373, 29655203 0 No evidence available 2020-04-22 SCN5A 6331 3p22.2 chr3:38548061-38649687 2 Some evidence for dosage pathogenicity 19279983 17399644 0 No evidence available 2016-01-14 SCN8A 6334 12q13.13 chr12:51591233-51812864 0 No evidence available 0 No evidence available 2013-04-11 614306 SDCCAG8 10806 1q43-q44 chr1:243255418-243503683 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2016-08-22 SDHAF1 644096 19q13.12 chr19:35995188-35996312 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2016-08-22 252011 SDHAF2 54949 11q12.2 chr11:61430124-61446733 2 Some evidence for dosage pathogenicity 22241717 26096992 0 No evidence available 2016-01-14 SDHB 6390 1p36.13 chr1:17018722-17054032 3 Sufficient evidence for dosage pathogenicity 16258955 19389109 17652212 0 No evidence available 2020-07-22 SDHC 6391 1q23.3 chr1:161314381-161375340 3 Sufficient evidence for dosage pathogenicity 19546167 15342702 17667967 0 No evidence available 2015-08-27 605373 SDHD 6392 11q23.1 chr11:112086873-112095794 3 Sufficient evidence for dosage pathogenicity 10657297 12111639 0 No evidence available 2015-08-13 168000 SDR42E1 93517 16q23.3 chr16:81988855-82011526 40 Dosage sensitivity unlikely 32487729 22344438 25807282 32461654 0 No evidence available 2021-02-02 SEC14L4 284904 22q12.2 chr22:30488150-30505711 40 Dosage sensitivity unlikely 32487729 22344438 32461654 0 No evidence available 2021-02-02 SEC23B 10483 20p11.23 chr20:18507548-18561415 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2016-08-22 SEM1 7979 7q21.3 chr7:96481626-96709846 0 No evidence available 0 No evidence available 2012-05-14 220600 SEMA3A 10371 7q21.11 chr7:83955777-84515189 1 Little evidence for dosage pathogenicity 22416012 0 No evidence available 2017-08-07 SERPINA1 5265 14q32.13 chr14:94376747-94390654 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2017-05-09 613490 SERPINB6 5269 6p25.2 chr6:2948159-2971793 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2016-08-22 613453 SERPINB7 8710 18q21.33 chr18:63753057-63805370 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2014-11-13 615598 SETBP1 26040 18q12.3 chr18:44680072-45068510 3 Sufficient evidence for dosage pathogenicity 25217958 25356899 0 No evidence available 2018-05-23 616078 SETD1A 9739 16p11.2 chr16:30956618-30984664 3 Sufficient evidence for dosage pathogenicity 24853937 26974950 0 No evidence available 2018-02-28 SETD2 29072 3p21.31 chr3:47016431-47164113 2 Some evidence for dosage pathogenicity 24852293 26084711 27317772 0 No evidence available 2018-02-28 616831 SETD5 55209 3p25.3 chr3:9397615-9478154 3 Sufficient evidence for dosage pathogenicity 25138099 24680889 0 No evidence available 2014-11-06 615761 SF3B4 10262 1q21.2 chr1:149923317-149927803 3 Sufficient evidence for dosage pathogenicity 22541558 23568615 24003905 0 No evidence available 2014-07-17 154400 SGCG 6445 13q12.12 chr13:23160508-23325162 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2016-08-22 253700 SGSH 6448 17q25.3 chr17:80200668-80220333 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2015-02-12 252900 SH2D1A 4068 Xq25 chrX:124346563-124373160 3 Sufficient evidence for dosage pathogenicity 11049992 11159547 31144249 0 No evidence available 2021-01-27 308240 SHANK1 50944 19q13.33 chr19:50659255-50719802 1 Little evidence for dosage pathogenicity 27824329 0 No evidence available 2019-03-27 SHANK2 22941 11q13.3-q13.4 chr11:70467854-71252724 2 Some evidence for dosage pathogenicity 20473310 22346768 25560758 0 No evidence available 2018-01-24 SHANK3 85358 22q13.33 chr22:50672823-50733212 3 Sufficient evidence for dosage pathogenicity 23758760 21984749 21779178 0 No evidence available 2018-08-14 606232 SHH 6469 7q36.3 chr7:155799980-155812463 3 Sufficient evidence for dosage pathogenicity 10556296 12567406 22791840 0 No evidence available 19431187 2020-06-24 142945 SHOC2 8036 10q25.2 chr10:110919370-111013665 0 No evidence available 24739123 0 No evidence available 2018-09-25 SHOX 6473 Xp22.33 and Yp11.2 chrY:624344-659411 3 Sufficient evidence for dosage pathogenicity 11403039 12402330 11889216 0 No evidence available 2015-10-15 127300 SHROOM4 57477 Xp11.22 chrX:50575534-50814194 0 No evidence available 0 No evidence available 2012-10-10 SIGLEC5 8778 19q13.41 chr19:51610960-51630428 40 Dosage sensitivity unlikely 32487729 28406212 25807282 26940866 32461654 0 No evidence available 2021-02-02 SIM1 6492 6q16.3 chr6:100385009-100464929 1 Little evidence for dosage pathogenicity 10587584 0 No evidence available 2012-04-25 601665 SIN3A 25942 15q24.2 chr15:75369379-75455819 3 Sufficient evidence for dosage pathogenicity 27399968 30267900 0 No evidence available 2020-01-13 613406 SIX1 6495 14q23.1 chr14:60643421-60649489 0 No evidence available 0 No evidence available 2012-03-22 SIX3 6496 2p21 chr2:44941702-44946071 3 Sufficient evidence for dosage pathogenicity 19346217 20157829 20531442 0 No evidence available 2020-09-23 157170 SIX4 51804 14q23.1 chr14:60709539-60724351 0 No evidence available 0 No evidence available 2012-05-08 SIX6 4990 14q23.1 chr14:60509146-60512850 0 No evidence available 0 No evidence available 2012-03-22 606326 SKI 6497 1p36.33-p36.32 chr1:2228319-2310213 0 No evidence available 0 No evidence available 2012-01-06 SLC12A1 6557 15q21.1 chr15:48206302-48304078 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2012-04-28 601678 SLC12A3 6559 16q13 chr16:56865207-56915850 30 Gene associated with autosomal recessive phenotype 21415153 0 No evidence available 2012-02-23 263800 SLC13A5 284111 17p13.1 chr17:6684719-6713400 30 Gene associated with autosomal recessive phenotype 615905 0 No evidence available 2016-08-22 SLC16A12 387700 10q23.31 chr10:89430299-89536029 1 Little evidence for dosage pathogenicity 18304496 0 No evidence available 2011-12-21 612018 SLC16A2 6567 Xq13.2 chrX:74421493-74533916 3 Sufficient evidence for dosage pathogenicity 0 No evidence available 2012-06-28 300523 SLC17A5 26503 6q13 chr6:73593379-73653992 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2016-08-22 SLC17A8 246213 12q23.1 chr12:100357074-100422055 2 Some evidence for dosage pathogenicity 26797701 28647561 0 No evidence available 2018-02-27 SLC22A14 9389 3p22.2 chr3:38281662-38318575 40 Dosage sensitivity unlikely 32487729 22344438 28406212 25807282 32461654 0 No evidence available 2021-02-02 SLC22A18 5002 11p15.4 chr11:2899691-2925246 0 No evidence available 0 No evidence available 2012-03-22 SLC24A1 9187 15q22.31 chr15:65611313-65661002 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2016-08-22 613830 SLC25A12 8604 2q31.1 chr2:171783405-171894244 0 No evidence available 0 No evidence available 2012-01-19 SLC25A19 60386 17q25.1 chr17:75272980-75289958 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2016-08-22 SLC2A1 6513 1p34.2 chr1:42925353-42958868 3 Sufficient evidence for dosage pathogenicity 10980529 25532859 25564316 0 No evidence available 2016-03-24 612126 SLC2A10 81031 20q13.12 chr20:46708358-46736347 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2018-02-01 208050 SLC30A10 55532 1q41 chr1:219910395-219959098 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2016-08-22 613280 SLC34A2 10568 4p15.2 chr4:25655851-25678748 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2016-08-22 265100 SLC35A2 7355 Xp11.23 chrX:48903183-48911958 3 Sufficient evidence for dosage pathogenicity 27743886 24115232 23561849 0 No evidence available 2018-01-24 300896 SLC35C1 55343 11p11.2 chr11:45804072-45813016 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2016-08-22 266265 SLC35D1 23169 1p31.3 chr1:66999350-67054423 30 Gene associated with autosomal recessive phenotype 19508970 0 No evidence available 2016-04-11 269250 SLC37A4 2542 11q23.3 chr11:119024112-119030906 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2016-08-22 SLC38A5 92745 Xp11.23 chrX:48458544-48470260 0 No evidence available 0 No evidence available 2012-09-26 SLC38A8 146167 16q23.3 chr16:84009667-84043372 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2016-08-22 609218 SLC3A1 6519 2p21 chr2:44275464-44321494 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2012-03-21 220100 SLC4A10 57282 2q24.2 chr2:161620963-161985270 1 Little evidence for dosage pathogenicity 17363630 0 No evidence available 2012-04-11 SLC6A1 6529 3p25.3 chr3:10992748-11039247 3 Sufficient evidence for dosage pathogenicity 23020937 25865495 28849312 0 No evidence available 2019-09-25 SLC6A18 348932 5p15.33 chr5:1225381-1246189 40 Dosage sensitivity unlikely 32487729 22344438 28406212 25807282 32461654 0 No evidence available 2021-02-02 SLC6A4 6532 17q11.2 chr17:30194319-30235697 0 No evidence available 0 No evidence available 2012-05-10 SLC6A8 6535 Xq28 chrX:153687926-153696593 3 Sufficient evidence for dosage pathogenicity 29478817 23644449 23660394 0 No evidence available 2020-11-10 300352 SLC9A6 10479 Xq26.3 chrX:135974596-136047269 3 Sufficient evidence for dosage pathogenicity 18342287 21812100 24630051 0 No evidence available 2020-12-08 300243 SLURP1 57152 8q24.3 chr8:142740949-142742406 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2017-06-08 248300 SMAD2 4087 18q21.1 chr18:47808957-47931188 0 No evidence available 0 No evidence available 2018-06-28 SMAD3 4088 15q22.33 chr15:67065602-67195195 3 Sufficient evidence for dosage pathogenicity 30661052 29907982 29392890 0 No evidence available 2020-04-22 613795 SMAD4 4089 18q21.2 chr18:51030213-51085042 3 Sufficient evidence for dosage pathogenicity 17873119 20101697 18823382 0 No evidence available 2020-12-16 175050 SMARCA2 6595 9p24.3 chr9:2015347-2193624 0 No evidence available 0 No evidence available 2013-03-27 601358 SMARCA4 6597 19p13.2 chr19:10960997-11062277 2 Some evidence for dosage pathogenicity 20137775 23775540 0 No evidence available 2013-09-04 613325 SMARCB1 6598 22q11.23|22q11 chr22:23786966-23838009 3 Sufficient evidence for dosage pathogenicity 21108436 29706634 18285426 0 No evidence available 2020-04-22 609322 SMC1A 8243 Xp11.22 chrX:53374149-53422728 3 Sufficient evidence for dosage pathogenicity 24896178 26386245 28166369 0 No evidence available 2018-07-23 300590 SMOC1 64093 14q24.2 chr14:69879388-70032366 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2016-08-22 206920 SMOC2 64094 6q27 chr6:168441153-168667992 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2016-08-22 125400 SMS 6611 Xp22.11 chrX:21940709-21994837 3 Sufficient evidence for dosage pathogenicity 14508504 18550699 19206178 0 No evidence available 2012-08-23 309583 SNORD107 91380 15q11.2 chr15:24981994-24982068 0 No evidence available 0 No evidence available 2012-04-24 SNORD108 338427 15q11.2 chr15:24986925-24986993 0 No evidence available 0 No evidence available 2012-07-06 SNORD109B 338429 15q11.2 chr15:25278343-25278409 0 No evidence available 0 No evidence available 2012-04-28 SNORD64 347686 15q11.2 chr15:24985100-24985166 0 No evidence available 0 No evidence available 2012-07-06 SNORD8 319103 14q11.2 chr14:21397293-21397401 0 No evidence available 0 No evidence available 2015-03-11 SNORD9 692053 14q11.2 chr14:21392151-21392253 0 No evidence available 0 No evidence available 2015-03-11 SNRPN 6638 15q11.2 chr15:24823637-24978723 0 No evidence available 0 No evidence available 2012-10-26 SNURF 8926 15q11.2 chr15:24954987-24978723 1 Little evidence for dosage pathogenicity 22511895 0 No evidence available 2012-09-06 SOBP 55084 6q21 chr6:107490104-107661306 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2016-08-22 613671 SON 6651 21q22.11 chr21:33543038-33577481 3 Sufficient evidence for dosage pathogenicity 25590979 27256762 27545680 0 No evidence available 2019-04-24 617140 SOS1 6654 2p22.1 chr2:38981549-39124868 0 No evidence available 21387466 0 No evidence available 2012-03-30 SOST 50964 17q21.31 chr17:43753738-43758791 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2012-08-22 SOX10 6663 22q13.1 chr22:37972312-37984555 3 Sufficient evidence for dosage pathogenicity 17999358 9462749 10077527 0 No evidence available 2013-07-18 613266 SOX11 6664 2p25.2 chr2:5692384-5701385 3 Sufficient evidence for dosage pathogenicity 18992374 26543203 24886874 0 No evidence available 2017-03-15 615866 SOX2 6657 3q26.33 chr3:181711925-181714436 3 Sufficient evidence for dosage pathogenicity 17522144 16543359 12612584 0 No evidence available 2012-07-06 206900 SOX5 6660 12p12.1 chr12:23529499-24562701 3 Sufficient evidence for dosage pathogenicity 22290657 23498568 23220431 0 No evidence available 2016-08-19 616803 SOX6 55553 11p15.2 chr11:15966449-16738477 0 No evidence available 0 No evidence available 2012-03-22 SOX8 30812 16p13.3 chr16:981770-986979 0 No evidence available 18492098 0 No evidence available 2012-02-22 SPAST 6683 2p22.3 chr2:32063551-32157637 3 Sufficient evidence for dosage pathogenicity 24690193 28572275 15667412 0 No evidence available 2019-09-25 182601 SPATA7 55812 14q31.3 chr14:88385638-88470350 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2016-08-22 604232 SPEG 10290 2q35 chr2:219434215-219493629 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2016-08-22 615959 SPEN 23013 1p36.21-p36.13 chr1:15847707-15940456 1 Little evidence for dosage pathogenicity 25363768 27525107 28135719 0 No evidence available 2019-03-27 SPERT 220082 13q14.13 chr13:45701030-45714559 40 Dosage sensitivity unlikely 32487729 22344438 25807282 32461654 0 No evidence available 2021-02-03 SPINK1 6690 5q32 chr5:147824582-147839196 2 Some evidence for dosage pathogenicity 19287144 16823394 15528018 0 No evidence available 2011-11-17 SPP2 6694 2q37.1 chr2:234050667-234077134 0 No evidence available 0 No evidence available 2019-02-27 SPRED1 161742 15q14 chr15:38252087-38357249 3 Sufficient evidence for dosage pathogenicity 17704776 19443465 0 No evidence available 2013-03-14 611431 SRCAP 10847 16p11.2 chr16:30699171-30741409 1 Little evidence for dosage pathogenicity 28263302 25363768 0 No evidence available 2018-05-31 SRD5A2 6716 2p23.1 chr2:31522480-31665651 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2012-08-22 264600 SRPX2 27286 Xq22.1 chrX:100644199-100675788 0 No evidence available 0 No evidence available 2012-07-25 SRY 6736 Yp11.2 chrY:2786855-2787682 3 Sufficient evidence for dosage pathogenicity 1639410 1339396 7987333 0 No evidence available 2020-12-22 400044 ST14 6768 11q24.3 chr11:130159782-130210362 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2016-08-22 602400 ST3GAL5 8869 2p11.2 chr2:85837120-85889034 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2014-09-25 609056 STAT1 6772 2q32.2 chr2:190968989-191014197 0 No evidence available 0 No evidence available 2013-09-18 STK11 6794 19p13.3 chr19:1205778-1228431 3 Sufficient evidence for dosage pathogenicity 2563227 20623358 0 No evidence available 2015-11-20 175200 STS 412 Xp22.31 chrX:7147290-7354641 3 Sufficient evidence for dosage pathogenicity 2813406 10692123 9252398 0 No evidence available 2018-09-13 308100 STT3A 3703 11q24.2 chr11:125592847-125623091 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2014-08-29 615596 STXBP1 6812 9q34.11 chr9:127611912-127696029 3 Sufficient evidence for dosage pathogenicity 19557857 23409955 0 No evidence available 2013-06-20 612164 SUCLG1 8802 2p11.2 chr2:84423528-84459280 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2016-08-22 245400 SUMF1 285362 3p26.1 chr3:4034714-4467270 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2016-08-22 272200 SUPT16H 11198 14q11.2 chr14:21351472-21384019 0 No evidence available 0 No evidence available 2012-05-09 SUZ12 23512 17q11.2 chr17:31937007-32001040 0 No evidence available 0 No evidence available 2012-07-06 SYN1 6853 Xp11.3-p11.23 chrX:47571901-47619857 2 Some evidence for dosage pathogenicity 14985377 21441247 0 No evidence available 2018-09-26 300491 SYNE4 163183 19q13.12 chr19:36003307-36008813 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2016-08-22 615540 SYNGAP1 8831 6p21.32 chr6:33420065-33453689 3 Sufficient evidence for dosage pathogenicity 19196676 21237447 20683986 0 No evidence available 2012-07-06 612621 SYP 6855 Xp11.23 chrX:49187815-49200193 1 Little evidence for dosage pathogenicity 19377476 0 No evidence available 2018-09-26 300802 TAB2 23118 6q25.1 chr6:149217926-149411611 1 Little evidence for dosage pathogenicity 27452334 28464518 31959127 0 No evidence available 2020-05-27 614980 TACSTD2 4070 1p32.1 chr1:58575433-58577252 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2016-08-22 204870 TAF13 6884 1p13.3 chr1:109064140-109076003 1 Little evidence for dosage pathogenicity 24463507 0 No evidence available 2019-05-22 TAF2 6873 8q24.12 chr8:119730773-119832858 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2016-08-22 615599 TARDBP 23435 1p36.22 chr1:11012654-11030528 0 No evidence available 19959528 18931000 0 No evidence available 2018-09-25 TBC1D20 128637 20p13 chr20:435480-462543 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2016-08-22 615663 TBC1D5 9779 3p24.3 chr3:17157162-17742739 0 No evidence available 0 No evidence available 2015-10-30 TBCE 6905 1q42.3 chr1:235367427-235452443 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2012-05-17 TBL1XR1 79718 3q26.32 chr3:177019344-177197482 3 Sufficient evidence for dosage pathogenicity 22495309 25425123 26740553 1 Little evidence for dosage pathogenicity 28574232 2019-03-27 616944 TBR1 10716 2q24.2 chr2:161416297-161425870 3 Sufficient evidence for dosage pathogenicity 24458984 25849321 23160955 0 No evidence available 2018-01-24 TBX1 6899 22q11.21 chr22:19756703-19783593 2 Some evidence for dosage pathogenicity 14585638 16684884 0 No evidence available 2012-03-22 192430 TBX2 6909 17q23.2 chr17:61399843-61409466 1 Little evidence for dosage pathogenicity 28372585 0 No evidence available 2018-08-08 TBX20 57057 7p14.2 chr7:35199936-35254100 1 Little evidence for dosage pathogenicity 17668378 0 No evidence available 2013-04-26 TBX22 50945 Xq21.1 chrX:80014753-80031774 3 Sufficient evidence for dosage pathogenicity 11559848 17868388 0 No evidence available 2016-03-24 303400 TBX3 6926 12q24.21 chr12:114670255-114684175 3 Sufficient evidence for dosage pathogenicity 12668170 28145909 12116211 0 No evidence available 2020-09-23 181450 TBX4 9496 17q23.2 chr17:61452422-61485110 3 Sufficient evidence for dosage pathogenicity 15106123 23592887 29120062 0 No evidence available 2019-12-11 147891 TBX5 6910 12q24.21 chr12:114353911-114408708 3 Sufficient evidence for dosage pathogenicity 24664498 10077612 12818525 0 No evidence available 2020-07-29 142900 TCEB3C 162699 18q21.1 chr18:47028202-47030078 0 No evidence available 0 No evidence available 2012-02-22 TCF12 6938 15q21.3 chr15:56918090-57292595 3 Sufficient evidence for dosage pathogenicity 23354436 25271085 0 No evidence available 2015-10-15 615314 TCF20 6942 22q13.2|22q13.3 chr22:42160013-42283927 3 Sufficient evidence for dosage pathogenicity 27436265 25228304 28135719 0 No evidence available 2019-06-26 TCF4 6925 18q21.2 chr18:55222185-55635957 3 Sufficient evidence for dosage pathogenicity 17478476 29604340 22045651 0 No evidence available 2020-07-08 610954 TCF7L2 6934 10q25.2-q25.3 chr10:112950247-113167678 1 Little evidence for dosage pathogenicity 25363768 0 No evidence available 2019-03-27 TCIRG1 10312 11q13.2 chr11:68039000-68053846 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2016-08-22 259700 TCOF1 6949 5q32-q33.1 chr5:150357697-150400306 3 Sufficient evidence for dosage pathogenicity 9042910 12114482 15340364 8875242 22317976 25790162 0 No evidence available 2021-04-28 154500 TCTN1 79600 12q24.11 chr12:110614068-110649430 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2015-03-23 614173 TCTN2 79867 12q24.31 chr12:123671108-123708405 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2016-08-22 TDGF1 6997 3p21.31 chr3:46574535-46582457 1 Little evidence for dosage pathogenicity 12073012 0 No evidence available 2011-12-27 TDP1 55775 14q32.11 chr14:89954923-90044768 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2016-08-22 607250 TECPR2 9895 14q32.31 chr14:102362941-102502477 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2016-08-22 615031 TECTA 7007 11q23.3 chr11:121101243-121191490 30 Gene associated with autosomal recessive phenotype 12746400 28012541 21520338 0 No evidence available 2018-02-07 603629 TERT 7015 5p15.33 chr5:1253167-1295068 1 Little evidence for dosage pathogenicity 17875000 12629597 16284252 0 No evidence available 2011-11-17 TEX26 122046 13q12.3 chr13:30932654-30975502 40 Dosage sensitivity unlikely 32487729 25807282 32461654 0 No evidence available 2021-02-03 TFAP2B 7021 6p12.3 chr6:50817692-50847619 3 Sufficient evidence for dosage pathogenicity 21643846 15684060 0 No evidence available 2015-08-13 169100 TFR2 7036 7q22.1 chr7:100620420-100641552 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2016-08-22 604250 TGFBR1 7046 9q22.33 chr9:99104038-99154192 2 Some evidence for dosage pathogenicity 21358634 0 No evidence available 2012-04-25 609192 TGFBR2 7048 3p24.1 chr3:30606472-30694142 2 Some evidence for dosage pathogenicity 18781618 15235604 15731757 0 No evidence available 2012-04-11 610380 TGIF1 7050 18p11.31 chr18:3412009-3459978 3 Sufficient evidence for dosage pathogenicity 16962354 12522553 22125506 0 No evidence available 2012-05-10 142946 THRA 7067 17q21.1 chr17:40062193-40093867 0 No evidence available 0 No evidence available 2013-08-22 TIGD6 81789 5q32 chr5:149993118-150000654 40 Dosage sensitivity unlikely 32487729 22344438 25807282 28406212 26940866 32461654 0 No evidence available 2021-02-03 TIMM8A 1678 Xq22.1 chrX:101345661-101348742 3 Sufficient evidence for dosage pathogenicity 11405816 17471106 22736418 17851739 30634948 31903733 0 No evidence available 2021-03-24 304700 TLX3 30012 5q35.1 chr5:171309248-171312139 0 No evidence available 0 No evidence available 2018-09-25 TMC6 11322 17q25.3 chr17:78107397-78132427 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2016-08-22 226400 TMC8 147138 17q25.3 chr17:78129298-78142968 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2016-08-22 226400 TMEM135 65084 11q14.2 chr11:87037934-87328824 0 No evidence available 0 No evidence available 2015-11-02 TMEM231 79583 16q23.1 chr16:75536741-75556286 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2016-08-22 TMEM237 65062 2q33.1 chr2:201620186-201643503 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2015-04-08 614424 TMEM43 79188 3p25.1 chr3:14125006-14143680 0 No evidence available 0 No evidence available 2015-11-08 TMEM67 91147 8q22.1 chr8:93754844-93832653 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2016-08-22 TMLHE 55217 Xq28 chrX:155489011-155612952 1 Little evidence for dosage pathogenicity 21865298 22566635 23092983 0 No evidence available 2013-08-01 TMPRSS3 64699 21q22.3 chr21:42371890-42396052 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2016-08-22 601072 TMPRSS6 164656 22q12.3 chr22:37065436-37110625 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2016-08-22 206200 TNNI3 7137 19q13.42 chr19:55151767-55157732 1 Little evidence for dosage pathogenicity 18006163 0 No evidence available 2015-11-20 115210 TNNT1 7138 19q13.42 chr19:55132698-55149332 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2016-08-22 605355 TNNT2 7139 1q32.1 chr1:201359014-201377828 0 No evidence available 0 No evidence available 2015-11-15 TNRC6B 23112 22q13.1 chr22:40044834-40335808 3 Sufficient evidence for dosage pathogenicity 25284784 25363768 27479843 0 No evidence available 2019-06-26 TP53 7157 17p13.1 chr17:7668402-7687550 3 Sufficient evidence for dosage pathogenicity 26014290 21056402 0 No evidence available 2016-09-08 151623 TP63 8626 3q28 chr3:189596746-189897276 1 Little evidence for dosage pathogenicity 11462173 0 No evidence available 2012-09-06 TP73 7161 1p36.32 chr1:3652516-3736201 0 No evidence available 0 No evidence available 2012-07-06 TPK1 27010 7q35 chr7:144451941-144836424 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2016-08-22 614458 TPM1 7168 15q22.2 chr15:63042698-63071915 0 No evidence available 0 No evidence available 2015-11-09 TPRN 286262 9q34.3 chr9:137191619-137200741 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2016-08-22 613307 TPSD1 23430 16p13.3 chr16:1256069-1259008 40 Dosage sensitivity unlikely 32487729 25807282 32461654 0 No evidence available 2021-02-03 TRAPPC10 7109 21q22.3 chr21:44012309-44106552 0 No evidence available 0 No evidence available 2012-09-06 TRAPPC2 6399 Xp22.2 chrX:13712243-13734633 3 Sufficient evidence for dosage pathogenicity 11252002 12919139 11349230 0 No evidence available 2014-01-16 313400 TRAPPC9 83696 8q24.3 chr8:139727725-140458579 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2015-08-06 613192 TRIM2 23321 4q31.3 chr4:153152163-153339317 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2016-08-22 615490 TRIM32 22954 9q33.1 chr9:116687305-116701299 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2016-08-22 TRIM37 4591 17q22 chr17:58968010-59106880 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2016-08-22 253250 TRIO 7204 5p15.2 chr5:14143342-14510204 3 Sufficient evidence for dosage pathogenicity 25533962 25363760 26721934 0 No evidence available 2018-01-24 617061 TRIOBP 11078 22q13.1 chr22:37697048-37776556 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2016-08-22 609823 TRIP12 9320 2q36.3 chr2:229763837-229923234 3 Sufficient evidence for dosage pathogenicity 27848077 28251352 0 No evidence available 2018-04-02 617752 TRIP4 9325 15q22.31 chr15:64387836-64455303 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2018-08-16 616866 TRMT10A 93587 4q23 chr4:99546711-99564039 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2016-08-22 616033 TRMU 55687 22q13.31 chr22:46335714-46357340 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2016-08-22 613070 TRPS1 7227 8q23.3 chr8:115408496-115668975 3 Sufficient evidence for dosage pathogenicity 31662300 21740822 11112658 0 No evidence available 2020-07-08 190350 TRRAP 8295 7q22.1 chr7:98878532-99013241 1 Little evidence for dosage pathogenicity 28263302 23042115 0 No evidence available 2019-04-24 TSC1 7248 9q34.13 chr9:132891349-132945269 3 Sufficient evidence for dosage pathogenicity 32917966 23389244 17304050 0 No evidence available 2020-10-13 191100 TSC2 7249 16p13.3 chr16:2047804-2089491 3 Sufficient evidence for dosage pathogenicity 31525612 10205261 29932062 0 No evidence available 2020-06-10 613254 TSEN2 80746 3p25.2 chr3:12484456-12539624 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2016-08-22 612389 TSPAN7 7102 Xp11.4 chrX:38561542-38688918 2 Some evidence for dosage pathogenicity 12070254 10655063 26350204 0 No evidence available 2018-08-22 300210 TSPEAR 54084 21q22.3 chr21:44497893-44711572 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2016-08-22 614861 TTC19 54902 17p12 chr17:15999771-16045428 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2016-08-22 615157 TTC21B 79809 2q24.3 chr2:165873362-165953781 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2016-08-22 TTC7A 57217 2p21 chr2:46915866-47076123 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2016-08-22 243150 TTLL5 23093 14q24.3 chr14:75661246-75955079 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2016-08-22 615860 TUBA1A 7846 12q13.12 chr12:49184795-49189080 0 No evidence available 0 No evidence available 2016-04-14 TUBB3 10381 16q24.3 chr16:89921925-89936097 0 No evidence available 0 No evidence available 2017-08-30 TUBB4A 10382 19p13.3 chr19:6494319-6502848 0 No evidence available 0 No evidence available 2014-11-19 TUBGCP6 85378 22q13.33 chr22:50217694-50245028 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2016-08-22 251270 TUFM 7284 16p11.2 chr16:28842411-28846348 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2016-08-22 610678 TWIST1 7291 7p21.1 chr7:19113047-19117636 3 Sufficient evidence for dosage pathogenicity 16251895 15923834 22544111 0 No evidence available 2020-12-16 101400 TWIST2 117581 2q37.3 chr2:238848085-238910534 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2016-08-22 TYROBP 7305 19q13.12 chr19:35904403-35908295 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2016-08-22 221770 UBE2A 7319 Xq24 chrX:119574563-119584423 3 Sufficient evidence for dosage pathogenicity 16909393 23685073 24053514 0 No evidence available 2019-05-22 300860 UBE2T 29089 1q32.1 chr1:202331657-202341936 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2020-09-01 UBE3A 7337 15q11.2 chr15:25333728-25439381 3 Sufficient evidence for dosage pathogenicity 20034088 19213023 8988172 0 No evidence available 2012-08-23 105830 UBE3B 89910 12q24.11 chr12:109477410-109543628 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2016-08-22 244450 UBN2 254048 7q34 chr7:139228408-139329421 1 Little evidence for dosage pathogenicity 25363768) 28263302 25363760 0 No evidence available 2019-05-22 UNC93A 54346 6q27 chr6:167269032-167316014 40 Dosage sensitivity unlikely 32487729 22344438 28406212 25807282 32461654 0 No evidence available 2021-02-03 UPF2 26019 10p14 chr10:11920022-12043170 0 No evidence available 0 No evidence available 2019-02-13 UPF3B 65109 Xq24 chrX:119805311-119853028 3 Sufficient evidence for dosage pathogenicity 19238151 20479756 17704778 22957832 31737052 22609145 0 No evidence available 2021-02-09 300676 USH1C 10083 11p15.1 chr11:17493895-17544416 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2012-04-07 USH1G 124590 17q25.1 chr17:74916083-74923255 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2016-08-22 606943 USP9X 8239 Xp11.4 chrX:41085420-41236579 3 Sufficient evidence for dosage pathogenicity 26833328 24607389 28377321 0 No evidence available 2018-03-28 300919 VAMP7 6845 Xq28 and Yq12 chrY:57067838-57130289 0 No evidence available 0 No evidence available 2012-09-06 VCX3A 51481 Xp22.31 chrX:6533618-6535118 0 No evidence available 40 Dosage sensitivity unlikely 2012-10-12 VEGFA 7422 6p21.1 chr6:43770209-43786487 1 Little evidence for dosage pathogenicity 20420808 0 No evidence available 2012-04-25 VHL 7428 3p25.3 chr3:10141778-10153667 3 Sufficient evidence for dosage pathogenicity 20151405 0 No evidence available 2017-06-28 193300 VPS13B 157680 8q22.2 chr8:99013274-99877580 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2013-06-26 216550 VPS37A 137492 8p22 chr8:17246903-17333455 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2016-08-22 614898 WAC 51322 10p12.1|10p12.1-p11.2 chr10:28532772-28623112 3 Sufficient evidence for dosage pathogenicity 26757981 26264232 28263302 26795593 25356899 26325558 0 No evidence available 2018-02-28 616708 WDPCP 51057 2p15 chr2:63119559-63588733 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2016-08-22 WDR35 57539 2p24.1 chr2:19910260-19990105 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2013-06-19 WDR45 11152 Xp11.23 chrX:49074442-49101178 3 Sufficient evidence for dosage pathogenicity 23435086 23687123 25044655 0 No evidence available 2015-04-09 300894 WDR72 256764 15q21.3 chr15:53513741-53762878 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2016-08-22 613211 WFS1 7466 4p16.1 chr4:6260368-6303265 0 No evidence available 0 No evidence available 2012-02-08 WHRN 25861 9q32 chr9:114402078-114505500 30 Gene associated with autosomal recessive phenotype 12833159 15841483 0 No evidence available 2016-08-22 607084 WNT7A 7476 3p25.1 chr3:13816258-13880071 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2016-08-22 WRAP53 55135 17p13.1 chr17:7686071-7703502 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2017-12-15 613988 WRN 7486 8p12 chr8:31033749-31176138 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2015-03-25 277700 WT1 7490 11p13 chr11:32387775-32435539 3 Sufficient evidence for dosage pathogenicity 0 No evidence available 2012-07-06 194070 WWOX 51741 16q23.1-q23.2 chr16:78099654-79212667 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2017-11-08 XDH 7498 2p23.1 chr2:31334320-31414777 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2016-08-22 278300 XIAP 331 Xq25 chrX:123859708-123913972 3 Sufficient evidence for dosage pathogenicity 0 No evidence available 2012-07-06 300635 XIST 7503 Xq13.2 chrX:73820651-73852753 3 Sufficient evidence for dosage pathogenicity 8265665 11896455 28947658 0 No evidence available 2020-04-22 300087 XPA 7507 9q22.33 chr9:97654398-97697403 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2016-08-22 278700 XPNPEP3 63929 22q13.2 chr22:40857148-40932815 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2016-08-22 613159 XYLT1 64131 16p12.3 chr16:17101769-17470960 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2016-08-22 YAP1 10413 11q22.1 chr11:102109957-102233424 1 Little evidence for dosage pathogenicity 24462371 0 No evidence available 2014-11-13 120433 YTHDC1 91746 4q13.2 chr4:68310387-68350093 1 Little evidence for dosage pathogenicity 27824329 24463507 0 No evidence available 2019-04-24 YWHAE 7531 17p13.3 chr17:1344275-1400229 0 No evidence available 20452996 0 No evidence available 2014-06-19 ZBTB18 10472 1q44 chr1:244048653-244057476 3 Sufficient evidence for dosage pathogenicity 24193349 28283832 27598823 0 No evidence available 2019-04-24 612337 ZBTB24 9841 6q21 chr6:109462594-109483219 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2016-08-22 614069 ZC4H2 55906 Xq11.2 chrX:64915807-65034741 3 Sufficient evidence for dosage pathogenicity 31206972 29254829 23623388 0 No evidence available 2020-04-22 314580 ZDHHC15 158866 Xq13.3 chrX:75368427-75523259 0 No evidence available 0 No evidence available 2012-07-25 ZDHHC9 51114 Xq26.1 chrX:129803288-129843886 2 Some evidence for dosage pathogenicity 17436253 0 No evidence available 2012-04-25 300799 ZEB2 9839 2q22.3 chr2:144384081-144520119 3 Sufficient evidence for dosage pathogenicity 16053902 15121779 19842203 0 No evidence available 29263819 2020-06-24 235730 ZFPM2 23414 8q23.1 chr8:105318438-105804539 2 Some evidence for dosage pathogenicity 16103912 21525063 0 No evidence available 2012-04-04 610187 ZIC1 7545 3q24 chr3:147409365-147416719 2 Some evidence for dosage pathogenicity 15338008 21204220 0 No evidence available 2012-03-22 ZIC2 7546 13q32.3 chr13:99981784-99986765 3 Sufficient evidence for dosage pathogenicity 9771712 11479728 21638761 0 No evidence available 2012-07-06 609637 ZIC3 7547 Xq26.3 chrX:137566127-137577691 3 Sufficient evidence for dosage pathogenicity 27821535 24123890 14681828 0 No evidence available 2020-12-02 306955 ZIC4 84107 3q24 chr3:147386046-147407476 2 Some evidence for dosage pathogenicity 15338008 21204220 0 No evidence available 2012-03-15 220200 ZIM2 23619 19q13.43 chr19:56774547-56840726 0 No evidence available 0 No evidence available 2012-05-17 ZMYM3 9203 Xq13.1 chrX:71239624-71255197 0 No evidence available 0 No evidence available 2012-07-25 ZMYND11 10771 10p15.3 chr10:130088-254637 3 Sufficient evidence for dosage pathogenicity 25217958 22542183 27626064 0 No evidence available 23375656 2018-03-28 616083 ZMYND15 84225 17p13.2 chr17:4739833-4746119 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2016-08-22 615842 ZNF264 9422 19q13.43 chr19:57191500-57222846 0 No evidence available 0 No evidence available 2012-05-10 ZNF407 55628 18q22.3 chr18:74590475-75065671 0 No evidence available 0 No evidence available 2012-07-11 ZNF41 7592 Xp11.3 chrX:47444691-47485934 1 Little evidence for dosage pathogenicity 14628291 0 No evidence available 2012-10-24 ZNF462 58499 9q31.2 chr9:106860154-107013634 3 Sufficient evidence for dosage pathogenicity 28513610 31361404 0 No evidence available 2020-01-16 618619 ZNF592 9640 15q25.3 chr15:84748556-84806445 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2016-08-22 ZNF674 641339 Xp11.3 chrX:46497725-46545466 1 Little evidence for dosage pathogenicity 16385466 0 No evidence available 2012-08-29 ZNF711 7552 Xq21.1 chrX:85243820-85273362 2 Some evidence for dosage pathogenicity 19377476 0 No evidence available 2013-08-29 300803 ZNF81 347344 Xp11.23 chrX:47836902-47925627 0 No evidence available 0 No evidence available 2012-10-29 ZWILCH 55055 15q22.31 chr15:66505126-66550130 1 Little evidence for dosage pathogenicity 25363768 0 No evidence available 2019-04-24