ClinVar Miner

List of variants reported as likely pathogenic for chromosomal disorder

Included ClinVar conditions (201):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 651
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_022455.5(NSD1):c.4892A>G (p.Lys1631Arg) rs201857437 0.00038
NM_016111.4(TELO2):c.1100G>T (p.Cys367Phe) rs202020308 0.00016
NM_000057.4(BLM):c.3558+1G>T rs148969222 0.00006
NM_016111.4(TELO2):c.1772T>G (p.Val591Gly) rs142217951 0.00006
NM_153700.2(STRC):c.4219-1G>A rs748854592 0.00006
NM_000057.4(BLM):c.2695C>T (p.Arg899Ter) rs587779884 0.00004
NM_000057.4(BLM):c.3210+2del rs587779886 0.00003
NM_000057.4(BLM):c.98+1G>C rs750293380 0.00003
NM_000057.4(BLM):c.3028del (p.Asp1010fs) rs780379121 0.00002
NM_000057.4(BLM):c.3439A>T (p.Lys1147Ter) rs770311534 0.00002
NM_001002295.2(GATA3):c.1262C>T (p.Thr421Met) rs374919553 0.00002
NM_001211.6(BUB1B):c.667C>T (p.Gln223Ter) rs1290506364 0.00002
NM_000057.4(BLM):c.1284G>A (p.Trp428Ter) rs1057516964 0.00001
NM_000057.4(BLM):c.1301C>G (p.Ser434Ter) rs754203833 0.00001
NM_000057.4(BLM):c.1968dup (p.Lys657fs) rs772785079 0.00001
NM_000057.4(BLM):c.2015A>G (p.Gln672Arg) rs747281324 0.00001
NM_000057.4(BLM):c.2075-1G>A rs1231598990 0.00001
NM_000057.4(BLM):c.2250_2251insAAAT (p.Leu751fs) rs786204471 0.00001
NM_000057.4(BLM):c.2407T>C (p.Trp803Arg) rs148394770 0.00001
NM_000057.4(BLM):c.2488dup (p.Thr830fs) rs367543019 0.00001
NM_000057.4(BLM):c.2663-1G>C rs1444037196 0.00001
NM_000057.4(BLM):c.2823+2T>A rs1896712920 0.00001
NM_000057.4(BLM):c.2824-2A>T rs745538883 0.00001
NM_000057.4(BLM):c.3013_3019+4del rs765392662 0.00001
NM_000057.4(BLM):c.3020-258A>G rs1301751251 0.00001
NM_000057.4(BLM):c.3163T>C (p.Cys1055Arg) rs746218707 0.00001
NM_000057.4(BLM):c.3667dup (p.Thr1223fs) rs1057517154 0.00001
NM_000057.4(BLM):c.3875-2A>G rs150421256 0.00001
NM_000492.4(CFTR):c.458G>A (p.Arg153Lys) rs149197463 0.00001
NM_001211.6(BUB1B):c.2441G>A (p.Arg814His) rs28989182 0.00001
NM_001211.6(BUB1B):c.581+1G>T rs2037228249 0.00001
NM_016111.4(TELO2):c.682+1G>A rs779227414 0.00001
NM_019066.5(MAGEL2):c.3559C>T (p.Arg1187Ter) rs368965952 0.00001
NM_022455.5(NSD1):c.4411C>G (p.Arg1471Gly) rs570278338 0.00001
NM_022455.5(NSD1):c.6043T>C (p.Tyr2015His) rs587784175 0.00001
NM_024426.6(WT1):c.965+1G>A rs771527206 0.00001
NM_144997.7(FLCN):c.779+1G>T rs758175953 0.00001
GRCh37/hg19 16p11.2(chr16:28353878-29478115)x3
GRCh37/hg19 16p11.2(chr16:29974415-30596982)x1
GRCh37/hg19 16p12.2(chr16:21943463-22702769)
GRCh37/hg19 16p12.2(chr16:21973828-22361172)
GRCh37/hg19 16p13.11(chr16:14892880-16533890)
GRCh37/hg19 16p13.11(chr16:14892880-16544222)
GRCh37/hg19 16p13.3-13.2(chr16:5381584-10067952)
GRCh37/hg19 17q12(chr17:34807069-36284994)x1
GRCh37/hg19 17q23.1-23.2(chr17:58111094-60323067)
GRCh37/hg19 22q11.21(chr22:20732808-21465659)
GRCh37/hg19 2q23.1(chr2:149220152-149633312)
GRCh37/hg19 2q37.3(chr2:238795602-242918203)
GRCh37/hg19 6q21-22.31(chr6:112713854-124105184)
GRCh37/hg19 7q11.22-11.23(chr7:71847968-73391310)
NCBI36/hg18 17p13.1(chr17:6853665-8107394)x4
NC_000002.11:g.(?_149267619)_(149267714_?)dup
NC_000002.11:g.(?_200213424)_(200246543_?)dup
NC_000002.11:g.(?_200320572)_(200320780_?)dup
NC_000002.12:g.(?_199380344)_(199433534_?)dup
NC_000005.9:g.(?_176618865)_(176619040_?)dup
NC_000005.9:g.(?_176631101)_(176631313_?)dup
NC_000005.9:g.(?_176662802)_(176662966_?)dup
NC_000011.9:g.(?_95549619)_(95562458_?)del
NC_000015.10:g.(?_90794157)_(90798347_?)del
NC_000015.10:g.(?_90803511)_(90804369_?)del
NC_000015.10:g.(?_90809127)_(90815289_?)del
NC_000015.9:g.(91312817_91326051)_(91334075_91337396)dup
NC_000015.9:g.(?_91326042)_(91328321_?)dup
NC_000015.9:g.(?_91326042)_(91334084_?)dup
NC_000015.9:g.(?_91326042)_(91358509_?)del
NC_000015.9:g.(?_91341410)_(91341577_?)dup
NC_000015.9:g.(?_91341448)_(91344889_?)del
NC_000015.9:g.(?_91346741)_(91358509_?)del
NC_000015.9:g.(?_91346741)_(91358519_?)del
NC_000015.9:g.(?_91352357)_(91358509_?)del
NC_000017.11:g.2688360_2784321del
NC_000023.10:g.(152882907_152991027)del
NC_000023.10:g.(152886255_152976269)del
NC_000023.10:g.(152982350_153041544)del
NM_000057.4(BLM):c.1003_1006dup (p.Ser336delinsThrTer) rs1057517359
NM_000057.4(BLM):c.1083_1084del (p.Cys361_Asp362delinsTer) rs1057517030
NM_000057.4(BLM):c.1087+1G>A rs1179486581
NM_000057.4(BLM):c.1087+1G>T
NM_000057.4(BLM):c.1087+2T>C
NM_000057.4(BLM):c.1088-1G>A rs1555419696
NM_000057.4(BLM):c.1090A>T (p.Arg364Ter) rs1567040469
NM_000057.4(BLM):c.1114del (p.Ile373fs) rs1555419704
NM_000057.4(BLM):c.1151del (p.Asp384fs) rs1555419724
NM_000057.4(BLM):c.1210del (p.Arg404fs) rs1555419742
NM_000057.4(BLM):c.1220+1G>A rs1555419748
NM_000057.4(BLM):c.1220+1G>T
NM_000057.4(BLM):c.1220+2T>C
NM_000057.4(BLM):c.1220+2T>G
NM_000057.4(BLM):c.1221-2A>C rs1555419779
NM_000057.4(BLM):c.1316del (p.Met439fs) rs1555419829
NM_000057.4(BLM):c.1399dup (p.Asp467fs) rs1555419862
NM_000057.4(BLM):c.1429_1432del (p.Thr477fs) rs1555419873
NM_000057.4(BLM):c.1450A>T (p.Lys484Ter)
NM_000057.4(BLM):c.1479_1480del (p.Thr494fs) rs746244182
NM_000057.4(BLM):c.1487del (p.Leu496fs) rs2151158316
NM_000057.4(BLM):c.1492A>T (p.Lys498Ter) rs2151158332
NM_000057.4(BLM):c.1515G>A (p.Trp505Ter)
NM_000057.4(BLM):c.1544dup (p.Asn515fs) rs367543043
NM_000057.4(BLM):c.1549dup (p.Ser517fs) rs1555419902
NM_000057.4(BLM):c.1622del (p.Asn541fs)
NM_000057.4(BLM):c.1701G>A (p.Trp567Ter) rs1356090839
NM_000057.4(BLM):c.1720_1735del (p.Ala575fs) rs1057516361
NM_000057.4(BLM):c.1722_1725delinsGGC (p.Ala576fs) rs1057517266
NM_000057.4(BLM):c.1740del (p.Thr581fs) rs1057517432
NM_000057.4(BLM):c.1752del (p.Gln585fs) rs1555419961
NM_000057.4(BLM):c.1764_1777del (p.Lys588fs) rs1057516956
NM_000057.4(BLM):c.1795del (p.Arg599fs) rs1057517431
NM_000057.4(BLM):c.1817_1820del (p.Asp606fs) rs1555419980
NM_000057.4(BLM):c.1882+1G>C rs757841012
NM_000057.4(BLM):c.1882+2T>C
NM_000057.4(BLM):c.1883-1G>A rs772230310
NM_000057.4(BLM):c.1883-2A>G rs1555420142
NM_000057.4(BLM):c.1953_1956del (p.His651fs)
NM_000057.4(BLM):c.1A>C (p.Met1Leu) rs1215497457
NM_000057.4(BLM):c.2023dup (p.Ala675fs)
NM_000057.4(BLM):c.2074+1G>T rs367543036
NM_000057.4(BLM):c.2086_2087del (p.Ser696fs)
NM_000057.4(BLM):c.213_214del (p.Ser72fs) rs960430492
NM_000057.4(BLM):c.2145del (p.Pro715_Leu716insTer)
NM_000057.4(BLM):c.2181_2188del (p.Thr728fs)
NM_000057.4(BLM):c.2187del (p.Leu730fs)
NM_000057.4(BLM):c.2193+1G>A rs865866188
NM_000057.4(BLM):c.2193+1_2193+9del rs1060500652
NM_000057.4(BLM):c.2208_2212delinsGATTC (p.Tyr736_Thr738delinsTer)
NM_000057.4(BLM):c.2291_2292del (p.Tyr764fs) rs1555420602
NM_000057.4(BLM):c.2307+1G>A
NM_000057.4(BLM):c.2307+2T>G rs2151164052
NM_000057.4(BLM):c.2308-2A>G rs1248548542
NM_000057.4(BLM):c.2343_2344dup (p.Asn782fs) rs1555420842
NM_000057.4(BLM):c.2349_2350del (p.Leu783_Tyr784insTer) rs1555420844
NM_000057.4(BLM):c.2349_2350dup (p.Tyr784fs) rs1555420844
NM_000057.4(BLM):c.2404_2407del (p.Gln802fs) rs1567045235
NM_000057.4(BLM):c.2406+2T>G rs367543016
NM_000057.4(BLM):c.2407-1G>A rs1555420871
NM_000057.4(BLM):c.2407-2A>G
NM_000057.4(BLM):c.2407dup (p.Trp803fs) rs367543012
NM_000057.4(BLM):c.2410G>T (p.Gly804Ter) rs1412341951
NM_000057.4(BLM):c.2495_2496del (p.Thr832fs)
NM_000057.4(BLM):c.2516del (p.Lys839fs)
NM_000057.4(BLM):c.2522T>C (p.Ile841Thr) rs767086502
NM_000057.4(BLM):c.2548_2555+12del
NM_000057.4(BLM):c.2555+1G>A
NM_000057.4(BLM):c.2555+1G>T rs1555420917
NM_000057.4(BLM):c.2556-1G>T rs1896650174
NM_000057.4(BLM):c.2556-2A>G rs1596250255
NM_000057.4(BLM):c.2576_2577del (p.Arg859fs) rs1567052178
NM_000057.4(BLM):c.2580_2581del (p.His860fs) rs864622347
NM_000057.4(BLM):c.2595T>A (p.Tyr865Ter) rs1060503989
NM_000057.4(BLM):c.2603del (p.Pro868fs)
NM_000057.4(BLM):c.2642G>A (p.Trp881Ter)
NM_000057.4(BLM):c.2654_2660delinsTG (p.His885fs)
NM_000057.4(BLM):c.2662+2T>C rs1567052324
NM_000057.4(BLM):c.2662+2T>G rs1567052324
NM_000057.4(BLM):c.2663-2A>G rs1567053170
NM_000057.4(BLM):c.2677dup (p.Ile893fs)
NM_000057.4(BLM):c.2702G>A (p.Cys901Tyr) rs758311406
NM_000057.4(BLM):c.2720_2726del (p.Thr907fs) rs1057516452
NM_000057.4(BLM):c.2756del (p.His919fs)
NM_000057.4(BLM):c.2801G>A (p.Trp934Ter) rs1896712163
NM_000057.4(BLM):c.2807del (p.Asn936fs) rs1245531016
NM_000057.4(BLM):c.2821C>T (p.Gln941Ter) rs1057516700
NM_000057.4(BLM):c.2823_2823+3del
NM_000057.4(BLM):c.2824-1G>C rs1555423062
NM_000057.4(BLM):c.2824-2A>C rs745538883
NM_000057.4(BLM):c.2851_2857del (p.Met951fs) rs1309932713
NM_000057.4(BLM):c.2855G>C (p.Gly952Ala)
NM_000057.4(BLM):c.298_299del (p.Gln100fs) rs745807085
NM_000057.4(BLM):c.2T>C (p.Met1Thr) rs1057516593
NM_000057.4(BLM):c.3014_3015insTATCA (p.Met1006fs) rs797045115
NM_000057.4(BLM):c.3016_3017del (p.Met1006fs) rs1555423119
NM_000057.4(BLM):c.3022del (p.Glu1008fs) rs1057516719
NM_000057.4(BLM):c.3164G>A (p.Cys1055Tyr) rs367543029
NM_000057.4(BLM):c.3210+1G>A
NM_000057.4(BLM):c.3211-2A>G
NM_000057.4(BLM):c.3222_3223del (p.Asp1076fs) rs1555423753
NM_000057.4(BLM):c.3265del (p.Gln1089fs)
NM_000057.4(BLM):c.3305_3306del (p.His1102fs) rs1057516253
NM_000057.4(BLM):c.3358+1G>A
NM_000057.4(BLM):c.3358+1G>T
NM_000057.4(BLM):c.3359-1G>A
NM_000057.4(BLM):c.3359-2A>G
NM_000057.4(BLM):c.3400G>T (p.Gly1134Ter) rs1057516774
NM_000057.4(BLM):c.3421delinsTTTTT (p.Asn1141fs)
NM_000057.4(BLM):c.3437_3438del (p.Leu1145_Phe1146insTer)
NM_000057.4(BLM):c.3438_3439del (p.Phe1146fs) rs2151194257
NM_000057.4(BLM):c.3475_3476del (p.Leu1159fs) rs367543033
NM_000057.4(BLM):c.3499del (p.Ala1167fs) rs1555424305
NM_000057.4(BLM):c.3508del (p.Tyr1170fs) rs1555424311
NM_000057.4(BLM):c.3554_3559-116del
NM_000057.4(BLM):c.3559-1G>A rs1555424368
NM_000057.4(BLM):c.3566_3567del (p.Phe1189fs) rs1555424372
NM_000057.4(BLM):c.357_358del (p.Cys120fs) rs748186908
NM_000057.4(BLM):c.3589del (p.Ser1197fs) rs1555424376
NM_000057.4(BLM):c.3638del (p.Glu1213fs) rs1057516547
NM_000057.4(BLM):c.3678C>A (p.Cys1226Ter) rs1897236255
NM_000057.4(BLM):c.3692_3693del (p.Lys1231fs) rs1234064430
NM_000057.4(BLM):c.3751+1G>A rs1897239335
NM_000057.4(BLM):c.3751+2T>C rs1897239414
NM_000057.4(BLM):c.3753del (p.Glu1251fs) rs1275708646
NM_000057.4(BLM):c.3845del (p.Leu1282fs) rs1897350204
NM_000057.4(BLM):c.3845dup (p.Leu1282fs) rs1897350204
NM_000057.4(BLM):c.3847C>T (p.Gln1283Ter) rs367543031
NM_000057.4(BLM):c.3855C>A (p.Tyr1285Ter) rs1057516728
NM_000057.4(BLM):c.3866dup (p.Ser1290fs)
NM_000057.4(BLM):c.3874+1G>A
NM_000057.4(BLM):c.3874+2T>C rs1555424890
NM_000057.4(BLM):c.3875-1G>A rs2151199690
NM_000057.4(BLM):c.3875-2A>T rs150421256
NM_000057.4(BLM):c.3890del (p.Pro1297fs) rs1555425062
NM_000057.4(BLM):c.3891del (p.Gly1298_Ile1299insTer)
NM_000057.4(BLM):c.3901del (p.Leu1301fs) rs1555425063
NM_000057.4(BLM):c.3917del (p.Gly1306fs) rs764086459
NM_000057.4(BLM):c.3937G>T (p.Glu1313Ter) rs1555425074
NM_000057.4(BLM):c.3956del (p.Ile1319fs) rs1555425080
NM_000057.4(BLM):c.3975C>A (p.Tyr1325Ter)
NM_000057.4(BLM):c.4000_4004del (p.Arg1334fs) rs1057516261
NM_000057.4(BLM):c.4013dup (p.Met1339fs)
NM_000057.4(BLM):c.418G>T (p.Glu140Ter)
NM_000057.4(BLM):c.443dup (p.Leu148fs) rs1057516297
NM_000057.4(BLM):c.479_480del (p.Asp159_Phe160insTer) rs1555418352
NM_000057.4(BLM):c.516del (p.Gln174fs)
NM_000057.4(BLM):c.543del (p.Ser181fs) rs1555418380
NM_000057.4(BLM):c.581_582del (p.Phe193_Phe194insTer) rs367543026
NM_000057.4(BLM):c.608_609del (p.Thr203fs) rs1170049553
NM_000057.4(BLM):c.646G>T (p.Glu216Ter)
NM_000057.4(BLM):c.662_665del (p.Thr221fs) rs1057517229
NM_000057.4(BLM):c.709del (p.Cys237fs) rs1217879599
NM_000057.4(BLM):c.746del (p.Asn249fs)
NM_000057.4(BLM):c.75_78del (p.Leu25fs)
NM_000057.4(BLM):c.772_773del (p.Leu258fs) rs367543013
NM_000057.4(BLM):c.799+1G>A
NM_000057.4(BLM):c.799+1G>T rs1895641581
NM_000057.4(BLM):c.800-2A>G rs1895690125
NM_000057.4(BLM):c.804_805del (p.Asn268fs)
NM_000057.4(BLM):c.855del (p.Val286fs) rs2151149598
NM_000057.4(BLM):c.8_9dup (p.Val4fs)
NM_000057.4(BLM):c.942del (p.Ser315fs) rs1555418701
NM_000057.4(BLM):c.959+1_959+9del rs765061205
NM_000057.4(BLM):c.959_959+16del
NM_000057.4(BLM):c.960-1G>A rs1596223715
NM_000057.4(BLM):c.960-1G>T rs1596223715
NM_000057.4(BLM):c.960-2A>C rs1286600850
NM_000057.4(BLM):c.98+1G>A rs750293380
NM_000057.4(BLM):c.98+1G>T rs750293380
NM_000057.4(BLM):c.98+2dup rs1555418016
NM_000057.4(BLM):c.98_98+1del
NM_000057.4(BLM):c.99-1G>C rs897262346
NM_000057.4(BLM):c.99-1G>T
NM_000057.4(BLM):c.99-8_112del rs2151146678
NM_000057.4(BLM):c.991_995del (p.Lys331fs) rs786204524
NM_000304.4(PMP22):c.199G>A (p.Ala67Thr) rs104894623
NM_000304.4(PMP22):c.235T>A (p.Ser79Thr) rs863225027
NM_000304.4(PMP22):c.341C>T (p.Ala114Val) rs1217342392
NM_000304.4(PMP22):c.392C>G (p.Ser131Cys) rs1597597627
NM_000304.4(PMP22):c.469C>T (p.Arg157Trp) rs28936682
NM_000304.4(PMP22):c.78+3G>T rs1597635528
NM_000501.4(ELN):c.1149C>A (p.Tyr383Ter) rs199621188
NM_000501.4(ELN):c.166del (p.Leu56fs) rs2131266202
NM_000612.6(IGF2):c.100G>T (p.Gly34Cys) rs1858937359
NM_000612.6(IGF2):c.106del (p.Glu36fs)
NM_000612.6(IGF2):c.195del (p.Ile66fs) rs1858779370
NM_000612.6(IGF2):c.357G>A (p.Trp119Ter)
NM_000612.6(IGF2):c.59C>A (p.Ser20Ter) rs142012621
NM_001002295.2(GATA3):c.1058G>C (p.Arg353Thr) rs1564405163
NM_001002295.2(GATA3):c.1099C>T (p.Arg367Ter) rs104894164
NM_001002295.2(GATA3):c.332_333dup (p.Trp112fs)
NM_001002295.2(GATA3):c.639_648del (p.Ser214fs)
NM_001002295.2(GATA3):c.821T>C (p.Leu274Pro)
NM_001042424.3(NSD2):c.927G>T (p.Lys309Asn)
NM_001110792.2(MECP2):c.1001C>T (p.Pro334Leu) rs61751450
NM_001110792.2(MECP2):c.1152_1155del (p.His384fs)
NM_001110792.2(MECP2):c.1174_1178del (p.Val392fs)
NM_001110792.2(MECP2):c.1440dup (p.Pro481fs) rs2065902096
NM_001110792.2(MECP2):c.1496G>C (p.Ter499Ser) rs267608399
NM_001110792.2(MECP2):c.414-3C>G rs267608465
NM_001110792.2(MECP2):c.934G>A (p.Val312Ile) rs61751370
NM_001130053.5(EEF1D):c.1488+1G>A
NM_001134673.4(NFIA):c.106C>T (p.Arg36Ter) rs2100414085
NM_001134673.4(NFIA):c.1086dup (p.Ala363fs) rs2100520890
NM_001134673.4(NFIA):c.1228C>T (p.Gln410Ter) rs1665711818
NM_001134673.4(NFIA):c.149_153del (p.Lys50fs) rs2100414172
NM_001134673.4(NFIA):c.297dup (p.Pro100fs) rs1553149202
NM_001134673.4(NFIA):c.352G>C (p.Asp118His) rs1570123287
NM_001134673.4(NFIA):c.373A>G (p.Lys125Glu) rs769522583
NM_001134673.4(NFIA):c.442G>T (p.Glu148Ter) rs2100414767
NM_001145358.2(SIN3A):c.1261dup (p.Ser421fs) rs2141486160
NM_001145358.2(SIN3A):c.1526+1G>T
NM_001145358.2(SIN3A):c.2005C>T (p.Leu669Phe) rs2073302769
NM_001145358.2(SIN3A):c.2006T>A (p.Leu669His) rs1595897117
NM_001145358.2(SIN3A):c.240_252dup (p.His85delinsSerSerTer)
NM_001145358.2(SIN3A):c.2803C>T (p.Arg935Ter) rs2141424841
NM_001145358.2(SIN3A):c.2809_2810del (p.Lys937fs) rs1555443600
NM_001145358.2(SIN3A):c.2844_2847del (p.Lys948fs) rs1555443581
NM_001145358.2(SIN3A):c.2948dup (p.Arg984fs) rs2141415824
NM_001145358.2(SIN3A):c.3045_3046dup (p.Ile1016fs) rs2141396556
NM_001145358.2(SIN3A):c.3473dup (p.Asn1158fs) rs2141368718
NM_001145358.2(SIN3A):c.366+5T>C
NM_001145358.2(SIN3A):c.3785_3791del (p.Tyr1262fs)
NM_001145358.2(SIN3A):c.474-1G>A
NM_001145358.2(SIN3A):c.866C>A (p.Ser289Ter) rs1347764887
NM_001172509.2(SATB2):c.1016del (p.Phe339fs)
NM_001172509.2(SATB2):c.1022_1029del (p.Asn341fs)
NM_001172509.2(SATB2):c.1105_1106insT (p.Arg369fs)
NM_001172509.2(SATB2):c.1166G>A (p.Arg389His)
NM_001172509.2(SATB2):c.1169C>T (p.Thr390Ile) rs863224917
NM_001172509.2(SATB2):c.1172A>C (p.Gln391Pro) rs2105822776
NM_001172509.2(SATB2):c.1174G>C (p.Gly392Arg) rs1688108689
NM_001172509.2(SATB2):c.1195C>T (p.Arg399Cys) rs1574511051
NM_001172509.2(SATB2):c.1196G>C (p.Arg399Pro) rs1057518190
NM_001172509.2(SATB2):c.1218_1221del (p.Ala407fs) rs1574510975
NM_001172509.2(SATB2):c.1226A>G (p.Gln409Arg)
NM_001172509.2(SATB2):c.1226_1234del (p.Gln409_Leu411del)
NM_001172509.2(SATB2):c.1244T>C (p.Leu415Pro) rs2105795469
NM_001172509.2(SATB2):c.1298A>C (p.Tyr433Ser) rs1688103993
NM_001172509.2(SATB2):c.1307A>T (p.Glu436Val) rs1688103803
NM_001172509.2(SATB2):c.1564C>T (p.Arg522Cys) rs1223371144
NM_001172509.2(SATB2):c.1624dup (p.Arg542fs)
NM_001172509.2(SATB2):c.170-2A>G
NM_001172509.2(SATB2):c.1741-2A>C
NM_001172509.2(SATB2):c.1808_1817del (p.Pro603fs) rs1692192971
NM_001172509.2(SATB2):c.1964C>T (p.Pro655Leu) rs1553538919
NM_001172509.2(SATB2):c.473+1G>A
NM_001172509.2(SATB2):c.597+1G>A rs1559016679
NM_001172509.2(SATB2):c.630T>G (p.Tyr210Ter) rs2105850080
NM_001172509.2(SATB2):c.642_643dup (p.Ser215fs)
NM_001172509.2(SATB2):c.665T>C (p.Phe222Ser)
NM_001172509.2(SATB2):c.700+1G>A
NM_001172509.2(SATB2):c.700G>A (p.Val234Met)
NM_001172509.2(SATB2):c.75del (p.Pro26fs) rs1574645416
NM_001172509.2(SATB2):c.805G>T (p.Glu269Ter)
NM_001172509.2(SATB2):c.823C>T (p.Gln275Ter) rs1688736712
NM_001172509.2(SATB2):c.866T>G (p.Leu289Ter)
NM_001172509.2(SATB2):c.925C>T (p.Gln309Ter) rs1574532452
NM_001172509.2(SATB2):c.955C>T (p.Gln319Ter)
NM_001211.6(BUB1B):c.1372del (p.Thr458fs)
NM_001211.6(BUB1B):c.1401G>T (p.Gln467His)
NM_001211.6(BUB1B):c.2285-2A>G
NM_001211.6(BUB1B):c.2386-2A>G rs2037726277
NM_001211.6(BUB1B):c.2851-1G>C rs1566830754
NM_001211.6(BUB1B):c.36-1G>A
NM_001211.6(BUB1B):c.967-2A>T rs2037350060
NM_001271862.2(PNLDC1):c.743G>A (p.Gly248Asp) rs1781557432
NM_001372044.2(SHANK3):c.1065C>G (p.Asn355Lys) rs200400333
NM_001372044.2(SHANK3):c.1255G>T (p.Val419Leu) rs1057519406
NM_001372044.2(SHANK3):c.1871G>C (p.Arg624Pro) rs2083140726
NM_001372044.2(SHANK3):c.2324+1del rs2146817773
NM_001372044.2(SHANK3):c.2869dup (p.Tyr957fs)
NM_001372044.2(SHANK3):c.2914_2948del (p.Asp972fs)
NM_001372044.2(SHANK3):c.2970del (p.Glu991fs)
NM_001372044.2(SHANK3):c.3187_3188insGCTCTCCCCGA (p.Thr1063fs)
NM_001372044.2(SHANK3):c.3286del (p.Glu1096fs)
NM_001372044.2(SHANK3):c.3313del (p.Leu1105fs) rs2083280147
NM_001372044.2(SHANK3):c.3443_3449del (p.Pro1148fs)
NM_001372044.2(SHANK3):c.3443del (p.Pro1148fs)
NM_001372044.2(SHANK3):c.3568C>T (p.Arg1190Ter)
NM_001372044.2(SHANK3):c.3949dup (p.Met1317fs)
NM_001372044.2(SHANK3):c.3952dup (p.Gln1318fs)
NM_001372044.2(SHANK3):c.4274_4275del (p.Glu1425fs) rs2146832853
NM_001372044.2(SHANK3):c.4311_4312del (p.Arg1438fs) rs1603447144
NM_001372044.2(SHANK3):c.4732C>T (p.Gln1578Ter) rs2146833747
NM_001372044.2(SHANK3):c.494+2T>G rs1603445997
NM_001372044.2(SHANK3):c.4987G>T (p.Glu1663Ter)
NM_001372044.2(SHANK3):c.5166dup (p.Gly1723fs)
NM_001372044.2:c.288+1G>A
NM_001378120.1(MBD5):c.1119del (p.Val374fs) rs1680695228
NM_001378120.1(MBD5):c.114-2A>T rs1574451881
NM_001378120.1(MBD5):c.1250T>G (p.Met417Arg)
NM_001378120.1(MBD5):c.1438C>T (p.Gln480Ter)
NM_001378120.1(MBD5):c.1756G>A (p.Ala586Thr)
NM_001378120.1(MBD5):c.1A>G (p.Met1Val)
NM_001378120.1(MBD5):c.2012_2013del (p.Arg671fs)
NM_001378120.1(MBD5):c.316_319dup (p.Ile107fs)
NM_001378120.1(MBD5):c.5020C>T (p.Arg1674Trp) rs1393532031
NM_001378120.1(MBD5):c.5037-2A>G
NM_001378120.1(MBD5):c.74G>A (p.Trp25Ter)
NM_001378120.1(MBD5):c.830C>G (p.Ser277Ter) rs1029755113
NM_001378120.1(MBD5):c.936dup (p.Pro313fs) rs2105627349
NM_001379200.1(TBX1):c.437+1G>C
NM_001379200.1(TBX1):c.503T>C (p.Leu168Pro) rs1936727304
NM_001379200.1(TBX1):c.711+1G>A rs1731409120
NM_001379291.1(BRD4):c.3282+2T>C
NM_002017.5(FLI1):c.1010G>A (p.Arg337Gln) rs1064797086
NM_002049.4(GATA1):c.35C>G (p.Ser12Ter) rs2062673416
NM_002397.5(MEF2C):c.104T>C (p.Leu35Pro) rs2153074771
NM_002397.5(MEF2C):c.104T>G (p.Leu35Arg) rs2153074771
NM_002397.5(MEF2C):c.106A>C (p.Ser36Arg)
NM_002397.5(MEF2C):c.134T>C (p.Leu45Pro)
NM_002397.5(MEF2C):c.137T>A (p.Ile46Asn) rs1799660837
NM_002397.5(MEF2C):c.170A>G (p.Tyr57Cys) rs2153074319
NM_002397.5(MEF2C):c.177C>G (p.Ser59Arg) rs1554139743
NM_002397.5(MEF2C):c.17T>A (p.Ile6Asn) rs2153222922
NM_002397.5(MEF2C):c.194T>G (p.Val65Gly) rs1580988074
NM_002397.5(MEF2C):c.216C>G (p.Tyr72Ter)
NM_002397.5(MEF2C):c.22A>C (p.Ile8Leu)
NM_002397.5(MEF2C):c.258+1G>A rs1064797310
NM_002397.5(MEF2C):c.258+5G>C rs2153073717
NM_002397.5(MEF2C):c.258G>A (p.Glu86=) rs796052724
NM_002397.5(MEF2C):c.2T>C (p.Met1Thr) rs545185248
NM_002397.5(MEF2C):c.402+146C>A rs1358670337
NM_002397.5(MEF2C):c.402+184del rs2152669802
NM_002397.5(MEF2C):c.43C>T (p.Arg15Cys) rs796052728
NM_002397.5(MEF2C):c.44G>A (p.Arg15His) rs1202957297
NM_002397.5(MEF2C):c.532C>T (p.Gln178Ter) rs1772953161
NM_002397.5(MEF2C):c.565C>T (p.Arg189Ter) rs587783747
NM_002397.5(MEF2C):c.637+1G>C rs2152497250
NM_002397.5(MEF2C):c.637+1G>T
NM_002397.5(MEF2C):c.638-1G>A rs2152281284
NM_002397.5(MEF2C):c.68A>G (p.Lys23Arg) rs797045053
NM_002397.5(MEF2C):c.71G>A (p.Arg24Lys) rs869312698
NM_002397.5(MEF2C):c.728dup (p.Met244fs)
NM_002397.5(MEF2C):c.79G>A (p.Gly27Arg)
NM_002397.5(MEF2C):c.810+2T>C
NM_002397.5(MEF2C):c.835-2A>G
NM_002397.5(MEF2C):c.89A>C (p.Lys30Thr)
NM_002536.4(TBC1D25):c.4609C>T rs1602125411
NM_002655.3(PLAG1):c.441_489del (p.Ser147fs) rs2129224609
NM_003483.6(HMGA2):c.44_48del (p.Ala15fs)
NM_004595.5(SMS):c.581T>G (p.Val194Gly)
NM_006940.6(SOX5):c.1672C>T (p.Arg558Cys) rs1591908680
NM_006940.6(SOX5):c.1673G>A (p.Arg558His)
NM_006940.6(SOX5):c.1681A>C (p.Asn561His) rs1591908568
NM_006940.6(SOX5):c.1694T>A (p.Val565Glu)
NM_006940.6(SOX5):c.1711C>T (p.Arg571Trp) rs1565669640
NM_006940.6(SOX5):c.1712G>T (p.Arg571Leu) rs773832380
NM_006940.6(SOX5):c.1759A>T (p.Ser587Cys) rs1942462618
NM_006940.6(SOX5):c.1789A>G (p.Met597Val) rs1940534444
NM_006940.6(SOX5):c.1814A>C (p.Tyr605Ser) rs1591833522
NM_006940.6(SOX5):c.1867T>C (p.Tyr623His)
NM_006940.6(SOX5):c.1868A>G (p.Tyr623Cys) rs1591833159
NM_006940.6(SOX5):c.1895C>A (p.Thr632Asn) rs1135401816
NM_006940.6(SOX5):c.224_225del (p.Gln75fs)
NM_006940.6(SOX5):c.392del (p.Thr131fs)
NM_006940.6(SOX5):c.482-2A>C rs1057518845
NM_006940.6(SOX5):c.637C>T (p.Arg213Ter) rs767241917
NM_006940.6(SOX5):c.721del (p.Ala241fs)
NM_006940.6(SOX5):c.814C>T (p.Gln272Ter)
NM_006940.6(SOX5):c.932-2A>C
NM_006940.6(SOX5):c.956del (p.Ile319fs)
NM_014679.5(CEP57):c.1402del (p.Lys467_Leu468insTer) rs1590962541
NM_014679.5(CEP57):c.46-2A>T
NM_014679.5(CEP57):c.622-2A>G
NM_014679.5(CEP57):c.699+1G>T
NM_014991.6(WDFY3):c.7156C>T (p.Arg2386Ter)
NM_016628.5(WAC):c.1280_1281del (p.Ser427fs) rs2132826154
NM_016628.5(WAC):c.1350T>G (p.Tyr450Ter) rs753403940
NM_016628.5(WAC):c.1407del (p.Ser470fs) rs2132834429
NM_016628.5(WAC):c.1746+1G>A rs1554791975
NM_016628.5(WAC):c.1747-2A>G
NM_016628.5(WAC):c.272del (p.Gly91fs)
NM_016628.5(WAC):c.275-1G>A rs2132628986
NM_016628.5(WAC):c.381+4_381+7del rs1564400647
NM_016628.5(WAC):c.438del (p.Tyr147fs) rs2132669171
NM_016628.5(WAC):c.472dup (p.Glu158fs) rs2132669368
NM_016628.5(WAC):c.497+2T>G
NM_016628.5(WAC):c.610+2T>G
NM_016628.5(WAC):c.67C>T (p.Gln23Ter) rs1836464000
NM_016628.5(WAC):c.811C>T (p.Gln271Ter) rs2132709607
NM_019066.5(MAGEL2):c.1015C>T (p.Gln339Ter) rs2140717180
NM_019066.5(MAGEL2):c.1104G>A (p.Trp368Ter) rs2140717041
NM_019066.5(MAGEL2):c.1597del (p.Ala533fs)
NM_019066.5(MAGEL2):c.1621C>T (p.Gln541Ter) rs1555374290
NM_019066.5(MAGEL2):c.1656del (p.Ala553fs)
NM_019066.5(MAGEL2):c.1687C>T (p.Gln563Ter) rs2140715275
NM_019066.5(MAGEL2):c.1808C>G (p.Ser603Ter) rs1595332731
NM_019066.5(MAGEL2):c.1923dup (p.Val643fs)
NM_019066.5(MAGEL2):c.2055del (p.Trp686fs)
NM_019066.5(MAGEL2):c.2057G>A (p.Trp686Ter) rs768844200
NM_019066.5(MAGEL2):c.2319del (p.Ala772_Trp773insTer)
NM_019066.5(MAGEL2):c.2646del (p.Gly883fs) rs2140713406
NM_019066.5(MAGEL2):c.2840delinsTTT (p.Glu947fs)
NM_019066.5(MAGEL2):c.2847_2883del (p.Ser950fs) rs1890358679
NM_019066.5(MAGEL2):c.2945_2946del (p.Leu981_Ser982insTer) rs1890356742
NM_019066.5(MAGEL2):c.3131C>A (p.Ser1044Ter) rs1267004913
NM_019066.5(MAGEL2):c.3449_3450del (p.Phe1150fs) rs998860333
NM_019066.5(MAGEL2):c.3583del (p.Met1195fs) rs2140711872
NM_019066.5(MAGEL2):c.648del (p.Thr217fs) rs2140718089
NM_022455.4:c.5623-?_c.8091+?del
NM_022455.4:c.928-10312_3797-10414del
NM_022455.5(NSD1):c.1064-2A>G rs2149836062
NM_022455.5(NSD1):c.1207A>T (p.Lys403Ter)
NM_022455.5(NSD1):c.1726_1727del (p.Asn576fs)
NM_022455.5(NSD1):c.1768_1769del (p.Leu590fs) rs2149843640
NM_022455.5(NSD1):c.197dup (p.Ser67fs) rs1756220614
NM_022455.5(NSD1):c.2350C>T (p.Gln784Ter) rs374740802
NM_022455.5(NSD1):c.2431_2432insCACTC (p.Ser811fs)
NM_022455.5(NSD1):c.2889_2890del (p.His963fs)
NM_022455.5(NSD1):c.3004_3007del (p.Lys1002fs) rs2149846876
NM_022455.5(NSD1):c.3036_3054dup (p.Arg1019delinsPheArgLeuCysTyrTer) rs1554189972
NM_022455.5(NSD1):c.3418_3419del (p.Val1140fs) rs1763367673
NM_022455.5(NSD1):c.3686C>G (p.Ser1229Ter) rs1763389239
NM_022455.5(NSD1):c.3774delinsCAGCTCACC (p.Gln1259fs)
NM_022455.5(NSD1):c.3940G>T (p.Glu1314Ter)
NM_022455.5(NSD1):c.4014del (p.Glu1340fs)
NM_022455.5(NSD1):c.4139_4140dup (p.Val1381fs)
NM_022455.5(NSD1):c.4193-1G>A rs1581411423
NM_022455.5(NSD1):c.4378+1G>A rs587784115
NM_022455.5(NSD1):c.4378+3_4378+6del rs1562251194
NM_022455.5(NSD1):c.4379-2A>G rs1581429903
NM_022455.5(NSD1):c.4538_4539insTCCT (p.Glu1513fs) rs1581433729
NM_022455.5(NSD1):c.4642-2A>G
NM_022455.5(NSD1):c.4766-2A>G rs1581457332
NM_022455.5(NSD1):c.4776del (p.Cys1593fs)
NM_022455.5(NSD1):c.4817G>A (p.Cys1606Tyr) rs587784127
NM_022455.5(NSD1):c.4823dup (p.Pro1609fs)
NM_022455.5(NSD1):c.4831T>C (p.Cys1611Arg) rs2149912373
NM_022455.5(NSD1):c.4844A>C (p.Tyr1615Ser) rs398124378
NM_022455.5(NSD1):c.4913A>G (p.His1638Arg)
NM_022455.5(NSD1):c.4972_4974del (p.Leu1658del)
NM_022455.5(NSD1):c.4987C>T (p.Arg1663Cys) rs587784134
NM_022455.5(NSD1):c.5021G>A (p.Cys1674Tyr) rs587784135
NM_022455.5(NSD1):c.5066G>C (p.Cys1689Ser) rs1756866850
NM_022455.5(NSD1):c.5069C>G (p.Pro1690Arg) rs1554200207
NM_022455.5(NSD1):c.5146+1G>A rs587784139
NM_022455.5(NSD1):c.5149G>A (p.Gly1717Ser)
NM_022455.5(NSD1):c.5149G>C (p.Gly1717Arg) rs1562278357
NM_022455.5(NSD1):c.5198G>A (p.Cys1733Tyr) rs587784140
NM_022455.5(NSD1):c.5198G>T (p.Cys1733Phe) rs587784140
NM_022455.5(NSD1):c.5268C>A (p.Tyr1756Ter)
NM_022455.5(NSD1):c.5303+1G>C rs587784141
NM_022455.5(NSD1):c.5304-1G>C rs863224905
NM_022455.5(NSD1):c.5374G>A (p.Gly1792Arg)
NM_022455.5(NSD1):c.5390T>C (p.Leu1797Pro) rs587784144
NM_022455.5(NSD1):c.5398G>C (p.Gly1800Arg) rs2149934419
NM_022455.5(NSD1):c.5419A>C (p.Thr1807Pro) rs587784146
NM_022455.5(NSD1):c.5471A>G (p.Asp1824Gly) rs587784150
NM_022455.5(NSD1):c.5474dup (p.Met1826fs) rs1757806263
NM_022455.5(NSD1):c.5510C>A (p.Ala1837Asp)
NM_022455.5(NSD1):c.5616T>A (p.His1872Gln)
NM_022455.5(NSD1):c.5685C>G (p.Cys1895Trp) rs1758797036
NM_022455.5(NSD1):c.5710C>T (p.Pro1904Ser)
NM_022455.5(NSD1):c.5714G>C (p.Cys1905Ser) rs1554204110
NM_022455.5(NSD1):c.5726_5727del (p.Asp1908_Ser1909insTer) rs2127257129
NM_022455.5(NSD1):c.5736C>G (p.Ile1912Met) rs1562292890
NM_022455.5(NSD1):c.5738A>T (p.Asn1913Ile)
NM_022455.5(NSD1):c.5741G>A (p.Arg1914His) rs587784155
NM_022455.5(NSD1):c.5741G>C (p.Arg1914Pro) rs587784155
NM_022455.5(NSD1):c.5758T>A (p.Cys1920Ser) rs1554204122
NM_022455.5(NSD1):c.5758T>C (p.Cys1920Arg) rs1554204122
NM_022455.5(NSD1):c.5798A>G (p.Asn1933Ser) rs587784156
NM_022455.5(NSD1):c.5854C>T (p.Arg1952Trp) rs886041219
NM_022455.5(NSD1):c.5858G>T (p.Gly1953Val)
NM_022455.5(NSD1):c.5892+1G>A rs886039579
NM_022455.5(NSD1):c.5907_5908insA (p.Glu1970fs)
NM_022455.5(NSD1):c.5918G>T (p.Gly1973Val) rs587784166
NM_022455.5(NSD1):c.5927T>A (p.Ile1976Lys) rs587784167
NM_022455.5(NSD1):c.5927T>C (p.Ile1976Thr) rs587784167
NM_022455.5(NSD1):c.5972_5973dup (p.Asp1992fs)
NM_022455.5(NSD1):c.5990A>G (p.Tyr1997Cys) rs797045825
NM_022455.5(NSD1):c.6013C>G (p.Arg2005Gly) rs587784173
NM_022455.5(NSD1):c.6013C>T (p.Arg2005Ter) rs587784173
NM_022455.5(NSD1):c.6014G>A (p.Arg2005Gln) rs587784174
NM_022455.5(NSD1):c.6019A>T (p.Ile2007Phe) rs1057516048
NM_022455.5(NSD1):c.6020T>C (p.Ile2007Thr) rs1554204921
NM_022455.5(NSD1):c.6029G>T (p.Gly2010Val)
NM_022455.5(NSD1):c.6050G>A (p.Arg2017Gln) rs587784177
NM_022455.5(NSD1):c.6068_6151+174del rs2127262979
NM_022455.5(NSD1):c.6080G>C (p.Cys2027Ser) rs587784180
NM_022455.5(NSD1):c.6086C>T (p.Thr2029Ile) rs587784181
NM_022455.5(NSD1):c.6088_6089del (p.Gln2030fs) rs1581535570
NM_022455.5(NSD1):c.6179T>A (p.Leu2060Gln)
NM_022455.5(NSD1):c.6208T>C (p.Cys2070Arg) rs1759551453
NM_022455.5(NSD1):c.6208T>G (p.Cys2070Gly) rs1759551453
NM_022455.5(NSD1):c.6256A>T (p.Lys2086Ter) rs1581548112
NM_022455.5(NSD1):c.6257dup (p.Asn2087fs)
NM_022455.5(NSD1):c.6328C>T (p.Gln2110Ter) rs1554206783
NM_022455.5(NSD1):c.6355G>A (p.Asp2119Asn)
NM_022455.5(NSD1):c.6356A>G (p.Asp2119Gly) rs587784191
NM_022455.5(NSD1):c.6366T>G (p.Phe2122Leu) rs1562305653
NM_022455.5(NSD1):c.6413G>A (p.Cys2138Tyr) rs587784195
NM_022455.5(NSD1):c.6418A>G (p.Lys2140Glu) rs587784196
NM_022455.5(NSD1):c.6424T>G (p.Tyr2142Asp) rs1562305920
NM_022455.5(NSD1):c.6436T>C (p.Cys2146Arg) rs1759885769
NM_022455.5(NSD1):c.6437dup (p.Cys2146fs) rs1554206836
NM_022455.5(NSD1):c.6455G>A (p.Arg2152Gln) rs587784200
NM_022455.5(NSD1):c.6475T>C (p.Cys2159Arg) rs1760056582
NM_022455.5(NSD1):c.6485A>C (p.His2162Pro) rs587784204
NM_022455.5(NSD1):c.6486T>G (p.His2162Gln) rs2127279165
NM_022455.5(NSD1):c.6500G>A (p.Cys2167Tyr) rs587784205
NM_022455.5(NSD1):c.6521_6523del (p.Phe2174del) rs587784206
NM_022455.5(NSD1):c.6532T>C (p.Cys2178Arg) rs2127279302
NM_022455.5(NSD1):c.6533G>T (p.Cys2178Phe) rs398124382
NM_022455.5(NSD1):c.6542_6544dup (p.Ser2181_Phe2182insSer) rs797045833
NM_022455.5(NSD1):c.6547T>G (p.Cys2183Gly) rs1554207287
NM_022455.5(NSD1):c.6557A>G (p.His2186Arg) rs587784208
NM_022455.5(NSD1):c.6605G>T (p.Cys2202Phe)
NM_022455.5(NSD1):c.6613C>T (p.His2205Tyr) rs1554207316
NM_022455.5(NSD1):c.6614A>G (p.His2205Arg)
NM_022455.5(NSD1):c.6630_6644del (p.Asn2211_Pro2215del) rs587784211
NM_022455.5(NSD1):c.6647G>A (p.Gly2216Glu) rs1760068807
NM_022455.5(NSD1):c.7180A>G (p.Ile2394Val) rs1554207690
NM_022455.5(NSD1):c.7227dup (p.Pro2410fs) rs2127282070
NM_022455.5(NSD1):c.7241dup (p.Leu2414fs)
NM_022455.5(NSD1):c.7540C>T (p.Gln2514Ter)
NM_022455.5(NSD1):c.7551del (p.Ala2519fs)
NM_024426.6(WT1):c.1016+1G>A rs2133032244
NM_024426.6(WT1):c.1016+2T>G rs1852674417
NM_024426.6(WT1):c.1114-1G>T rs1851976798
NM_024426.6(WT1):c.1297T>G (p.Cys433Gly) rs121907905
NM_024426.6(WT1):c.1406A>G (p.Asp469Gly) rs121907902
NM_024426.6(WT1):c.1447+2T>C rs1851829439
NM_024426.6(WT1):c.512G>T (p.Gly171Val) rs1554946480
NM_024426.6(WT1):c.965+2T>C
NM_030665.4(RAI1):c.13C>T (p.Arg5Ter) rs2143001434
NM_030665.4(RAI1):c.1677del (p.Ser560fs)
NM_030665.4(RAI1):c.1958_1959del (p.Val653fs) rs2032172594
NM_030665.4(RAI1):c.2238G>A (p.Trp746Ter) rs1598089943
NM_030665.4(RAI1):c.269del (p.Gly90fs)
NM_030665.4(RAI1):c.2763_2764del (p.Glu923fs)
NM_030665.4(RAI1):c.2903C>A (p.Ser968Ter)
NM_030665.4(RAI1):c.3293_3297del (p.Val1098fs)
NM_030665.4(RAI1):c.3534_3547del (p.Asp1179fs)
NM_030665.4(RAI1):c.367dup (p.Ala123fs)
NM_030665.4(RAI1):c.5223del (p.Gly1742fs)
NM_030665.4(RAI1):c.5444_5448del (p.Pro1815fs) rs2143003540
NM_030665.4(RAI1):c.5709+5G>C rs2143006568
NM_030665.4(RAI1):c.629C>G (p.Pro210Arg)
NM_030665.4(RAI1):c.859C>T (p.Gln287Ter) rs2032121558
NM_033517.1(SHANK3):c.3424_3425del (p.Leu1142fs) rs1555910143
NM_033517.1(SHANK3):c.3679del (p.Ala1227fs) rs762292772
NM_078480.3(PUF60):c.1381-2A>G rs1057518681
NM_078480.3(PUF60):c.1459T>C (p.Cys487Arg) rs2130205866
NM_078480.3(PUF60):c.1471G>A (p.Gly491Arg) rs1816336903
NM_078480.3(PUF60):c.1550T>G (p.Val517Gly) rs2130202692
NM_078480.3(PUF60):c.1558del (p.Ser520fs) rs1586555859
NM_078480.3(PUF60):c.1625T>A (p.Val542Glu)
NM_078480.3(PUF60):c.207+1G>A
NM_078480.3(PUF60):c.24+1G>T rs1064795388
NM_078480.3(PUF60):c.274C>T (p.Gln92Ter) rs1210239952
NM_078480.3(PUF60):c.389G>A (p.Arg130His) rs1554643584
NM_078480.3(PUF60):c.389G>C (p.Arg130Pro) rs1554643584
NM_078480.3(PUF60):c.436C>T (p.Arg146Cys) rs2130257405
NM_078480.3(PUF60):c.449_457del (p.Ala150_Phe152del) rs1131692232
NM_078480.3(PUF60):c.464del (p.Ile155fs) rs1816624373
NM_078480.3(PUF60):c.472del (p.Ile158fs) rs2130256693
NM_078480.3(PUF60):c.505C>T (p.His169Tyr) rs398123001
NM_078480.3(PUF60):c.612_630del (p.Asn207fs) rs1816565452
NM_078480.3(PUF60):c.619_637del (p.Asn207fs) rs1554643142
NM_078480.3(PUF60):c.642del (p.Ile214_Ile215insTer)
NM_078480.3(PUF60):c.686A>C (p.Tyr229Ser) rs1816558436
NM_078480.3(PUF60):c.713C>G (p.Ser238Ter) rs1554643099
NM_078480.3(PUF60):c.803_809del (p.Gly268fs) rs2130244708
NM_078480.3(PUF60):c.841C>T (p.Gln281Ter)
NM_078480.3(PUF60):c.931del (p.Thr311fs) rs1586565506
NM_080647.1(TBX1):c.34+2T>A
NM_080647.1(TBX1):c.855G>C (p.Lys285Asn) rs2145836461
NM_144997.7(FLCN):c.1357_1363del (p.Gly453fs) rs1131690841
NM_144997.7(FLCN):c.1657T>C (p.Trp553Arg) rs1131690833
NM_144997.7(FLCN):c.189del (p.Ala64fs) rs876660611
Single allele

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