ClinVar Miner

List of variants reported as pathogenic for X-linked syndromic intellectual disability by GeneReviews

Included ClinVar conditions (165):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 180
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HGVS dbSNP
NC_000023.11:g.(129551601)_129559858del
NC_000023.11:g.(?_126549383)_(129592556_?)del
NM_000108.5(DLD):c.685G>T (p.Gly229Cys) rs121964990
NM_000166.6(GJB1):c.123G>C (p.Glu41Asp) rs116840816
NM_000166.6(GJB1):c.145T>C (p.Ser49Pro) rs116840817
NM_000166.6(GJB1):c.164C>T (p.Thr55Ile) rs104894824
NM_000166.6(GJB1):c.187G>A (p.Val63Ile) rs116840818
NM_000166.6(GJB1):c.223C>T (p.Arg75Trp) rs116840819
NM_000166.6(GJB1):c.225del (p.Leu76fs) rs116840820
NM_000166.6(GJB1):c.407T>C (p.Val136Ala) rs104894826
NM_000166.6(GJB1):c.415G>A (p.Val139Met) rs104894812
NM_000166.6(GJB1):c.43C>T (p.Arg15Trp) rs116840815
NM_000166.6(GJB1):c.536G>A (p.Cys179Tyr) rs116840822
NM_000166.6(GJB1):c.556G>A (p.Glu186Lys) rs116840821
NM_000166.6(GJB1):c.614A>G (p.Asn205Ser) rs104894822
NM_000166.6(GJB1):c.704T>G (p.Phe235Cys) rs104894825
NM_000276.3(OCRL):c.-165-?_*2286+?del
NM_000276.3(OCRL):c.-165-?_199+?del
NM_000276.3(OCRL):c.-165-?_238+?del
NM_000489.5(ATRX):c.109C>T (p.Arg37Ter) rs122445108
NM_001097642.2(GJB1):c.572_580dup(p.Phe193_Met194insThrValPhe) rs116840823
NM_001110556.2(FLNA):c.3552C>A (p.Asp1184Glu) rs80338837
NM_001110556.2(FLNA):c.3562G>A (p.Ala1188Thr) rs28935472
NM_001110556.2(FLNA):c.3596C>T (p.Ser1199Leu) rs28935473
NM_001122608.3(HCCS):c.475G>A (p.Glu159Lys) rs193929392
NM_001123383.1(BCOR):c.254C>T (p.Pro85Leu) rs121434618
NM_002764.3(PRPS1):c.129A>C (p.Glu43Asp) rs80338731
NM_002764.3(PRPS1):c.344T>C (p.Met115Thr) rs80338732
NM_002764.3(PRPS1):c.398A>C (p.Gln133Pro) rs80338675
NM_002764.3(PRPS1):c.455T>C (p.Leu152Pro) rs80338676
NM_003491.4(NAA10):c.471+2T>A rs587776457
NM_003611.2(OFD1):c.(?_-311)_1542+?del
NM_003611.2(OFD1):c.(?_-359)_(*253_?)del
NM_003611.2(OFD1):c.(?_-360)_828+?del
NM_003611.2(OFD1):c.1220_1221+1delAGG rs312262869
NM_003611.2(OFD1):c.1221+1delG rs312262870
NM_003611.2(OFD1):c.1222-?_(*_?)del
NM_003611.2(OFD1):c.2261-?_2387+?del
NM_003611.2(OFD1):c.312+1delG rs312262822
NM_003611.2(OFD1):c.313dupG (p.Val105Glyfs) rs312262823
NM_003611.2(OFD1):c.382-?_412+?del
NM_003611.2(OFD1):c.518-?_935+?del
NM_003611.2(OFD1):c.654+2_654+4delTAA rs397507558
NM_003611.2(OFD1):c.936-?_1129+?del
NM_003611.2:c.1051-2>G
NM_003611.2:c.1056C>G
NM_003611.2:c.2388+1G>C
NM_003611.3(OFD1):c.1056-2A>T rs312262861
NM_003611.3(OFD1):c.1071_1078delinsTTTTTCCT (p.Lys358_Asp360delinsPheSerTyr) rs312262862
NM_003611.3(OFD1):c.1099C>T (p.Arg367Ter) rs312262863
NM_003611.3(OFD1):c.1100G>A (p.Arg367Gln) rs312262864
NM_003611.3(OFD1):c.111+2T>C rs312262809
NM_003611.3(OFD1):c.111G>A (p.Lys37=) rs312262808
NM_003611.3(OFD1):c.111G>C (p.Lys37Asn) rs312262808
NM_003611.3(OFD1):c.1130-22_1130-19del rs312262865
NM_003611.3(OFD1):c.1178dup (p.Glu394fs) rs312262866
NM_003611.3(OFD1):c.1185del (p.Glu395fs) rs312262867
NM_003611.3(OFD1):c.1189_1192AATC[1] (p.Gln398fs) rs312262868
NM_003611.3(OFD1):c.121C>T (p.Arg41Ter) rs312262810
NM_003611.3(OFD1):c.1263_1267AAAAC[1] (p.Gln423fs) rs312262871
NM_003611.3(OFD1):c.1303A>C (p.Ser435Arg) rs122460150
NM_003611.3(OFD1):c.1318del (p.Leu439_Leu440insTer) rs312262872
NM_003611.3(OFD1):c.1319del (p.Leu440fs) rs312262873
NM_003611.3(OFD1):c.1322_1326del (p.Lys441fs) rs312262874
NM_003611.3(OFD1):c.1323_1326del (p.Glu442fs) rs312262875
NM_003611.3(OFD1):c.1334_1335del (p.Leu445fs) rs312262876
NM_003611.3(OFD1):c.1358T>A (p.Leu453Ter) rs312262877
NM_003611.3(OFD1):c.1360_1363del (p.Leu454fs) rs312262878
NM_003611.3(OFD1):c.1409del (p.Asn470fs) rs312262879
NM_003611.3(OFD1):c.1420C>T (p.Gln474Ter) rs312262880
NM_003611.3(OFD1):c.1445_1446del (p.Phe482fs) rs312262881
NM_003611.3(OFD1):c.1452_1458del (p.Lys484fs) rs312262882
NM_003611.3(OFD1):c.147dup (p.His50fs) rs886039858
NM_003611.3(OFD1):c.1587del (p.Ala530fs) rs312262883
NM_003611.3(OFD1):c.1612C>T (p.Gln538Ter) rs886039864
NM_003611.3(OFD1):c.162_166del (p.Ser54fs) rs312262811
NM_003611.3(OFD1):c.1757del (p.Ser586fs) rs312262884
NM_003611.3(OFD1):c.1821del (p.Ile608fs) rs312262885
NM_003611.3(OFD1):c.1888_1889insTA (p.Asn630fs) rs312262886
NM_003611.3(OFD1):c.1977_1978CT[1] (p.Ser660fs) rs312262887
NM_003611.3(OFD1):c.1991dup (p.Leu665fs) rs886039865
NM_003611.3(OFD1):c.2044dup (p.Ile682fs) rs312262888
NM_003611.3(OFD1):c.2056del (p.Ser686fs) rs312262889
NM_003611.3(OFD1):c.2126_2129dup (p.Asn711fs) rs312262890
NM_003611.3(OFD1):c.2176del (p.Arg726fs) rs312262891
NM_003611.3(OFD1):c.221C>T (p.Ser74Phe) rs312262812
NM_003611.3(OFD1):c.224A>C (p.Asn75Thr) rs312262813
NM_003611.3(OFD1):c.2261-1G>T rs312262892
NM_003611.3(OFD1):c.2349del (p.Ile784fs) rs312262893
NM_003611.3(OFD1):c.235G>A (p.Ala79Thr) rs312262814
NM_003611.3(OFD1):c.241C>G (p.His81Asp) rs312262815
NM_003611.3(OFD1):c.243C>G (p.His81Gln) rs312262816
NM_003611.3(OFD1):c.247C>T (p.Gln83Ter) rs312262817
NM_003611.3(OFD1):c.260A>G (p.Tyr87Cys) rs312262818
NM_003611.3(OFD1):c.274T>C (p.Ser92Pro) rs312262819
NM_003611.3(OFD1):c.275_276del (p.Ser92fs) rs886039859
NM_003611.3(OFD1):c.290A>G (p.Glu97Gly) rs312262820
NM_003611.3(OFD1):c.294_312del (p.Ser98fs) rs312262821
NM_003611.3(OFD1):c.312+3_312+9del rs397507557
NM_003611.3(OFD1):c.337C>T (p.Gln113Ter) rs312262825
NM_003611.3(OFD1):c.372C>G (p.Tyr124Ter) rs312262826
NM_003611.3(OFD1):c.382-2A>G rs312262829
NM_003611.3(OFD1):c.382-3C>G rs312262828
NM_003611.3(OFD1):c.400_403del (p.Glu134fs) rs312262830
NM_003611.3(OFD1):c.411del (p.Gly138fs) rs312262831
NM_003611.3(OFD1):c.412+2del rs312262832
NM_003611.3(OFD1):c.412G>A (p.Gly138Ser) rs312262827
NM_003611.3(OFD1):c.413-10T>G rs312262833
NM_003611.3(OFD1):c.422T>G (p.Met141Arg) rs886039860
NM_003611.3(OFD1):c.431T>A (p.Leu144Ter) rs312262835
NM_003611.3(OFD1):c.431dup (p.Leu144fs) rs312262834
NM_003611.3(OFD1):c.43_44del (p.Gln16fs) rs312262806
NM_003611.3(OFD1):c.454C>T (p.Gln152Ter) rs312262836
NM_003611.3(OFD1):c.506_507GA[1] (p.Asp170fs) rs886039861
NM_003611.3(OFD1):c.518-1G>A rs886039862
NM_003611.3(OFD1):c.52G>T (p.Glu18Ter) rs886039857
NM_003611.3(OFD1):c.541dup (p.Asp181fs) rs886039863
NM_003611.3(OFD1):c.594_598del (p.Lys199_Leu200insTer) rs312262837
NM_003611.3(OFD1):c.602del (p.Asn201fs) rs312262838
NM_003611.3(OFD1):c.612_613GA[2] (p.Glu206fs) rs312262840
NM_003611.3(OFD1):c.619_624del (p.Ile207_Glu208del) rs312262839
NM_003611.3(OFD1):c.628C>T (p.Gln210Ter) rs312262841
NM_003611.3(OFD1):c.62_63insT (p.Lys21fs) rs886039856
NM_003611.3(OFD1):c.653del (p.Lys218fs) rs312262842
NM_003611.3(OFD1):c.65dup (p.Leu23fs) rs312262807
NM_003611.3(OFD1):c.675del (p.Glu226fs) rs312262844
NM_003611.3(OFD1):c.689_706del (p.Ile230_Lys235del) rs398122866
NM_003611.3(OFD1):c.707_719del (p.Lys236fs) rs312262846
NM_003611.3(OFD1):c.709_710del (p.Lys237fs) rs312262845
NM_003611.3(OFD1):c.710del (p.Lys237fs) rs312262845
NM_003611.3(OFD1):c.710dup (p.Tyr238fs) rs312262845
NM_003611.3(OFD1):c.712del (p.Tyr238fs) rs312262849
NM_003611.3(OFD1):c.790dup (p.Glu264fs) rs312262850
NM_003611.3(OFD1):c.823C>T (p.Gln275Ter) rs312262851
NM_003611.3(OFD1):c.839_840del (p.Lys280fs) rs312262852
NM_003611.3(OFD1):c.840_844del (p.Lys280fs) rs312262853
NM_003611.3(OFD1):c.843_844del (p.Glu281fs) rs312262855
NM_003611.3(OFD1):c.858del (p.Arg286fs) rs312262856
NM_003611.3(OFD1):c.871A>T (p.Lys291Ter) rs312262857
NM_003611.3(OFD1):c.875_876AT[1] (p.Met293fs) rs312262858
NM_003611.3(OFD1):c.896_897GA[3] (p.Ala301fs) rs312262859
NM_003611.3(OFD1):c.919del (p.Val307fs) rs312262860
NM_004085.4(TIMM8A):c.112C>T (p.Gln38Ter) rs80356559
NM_004085.4(TIMM8A):c.198C>G (p.Cys66Trp) rs80356560
NM_004595.5(SMS):c.166G>A (p.Gly56Ser) rs121434610
NM_004595.5(SMS):c.174T>A (p.Phe58Leu) rs397515549
NM_004595.5(SMS):c.200G>A (p.Gly67Glu) rs397515550
NM_004595.5(SMS):c.329+5G>A rs397515381
NM_004595.5(SMS):c.395T>G (p.Val132Gly) rs267607076
NM_004595.5(SMS):c.443A>G (p.Gln148Arg) rs397515551
NM_004595.5(SMS):c.449T>C (p.Ile150Thr) rs397515552
NM_004595.5(SMS):c.983A>C (p.Tyr328Ser) rs397515553
NM_004992.3(MECP2):c.397C>T (p.Arg133Cys) rs28934904
NM_004992.3(MECP2):c.419C>T (p.Ala140Val) rs28934908
NM_005120.3(MED12):c.2444G>A (p.Arg815Gln) rs762905361
NM_005120.3(MED12):c.2873G>A (p.Gly958Glu) rs397515554
NM_005120.3(MED12):c.2881C>T (p.Arg961Trp) rs80338758
NM_005120.3(MED12):c.3020A>G (p.Asn1007Ser) rs80338759
NM_005120.3(MED12):c.3067A>G (p.Ile1023Val) rs879255526
NM_005120.3(MED12):c.3443G>A (p.Arg1148His) rs387907360
NM_005120.3(MED12):c.3493T>C (p.Ser1165Pro) rs387907361
NM_005120.3(MED12):c.4147G>A (p.Ala1383Thr) rs863223696
NM_005120.3(MED12):c.5185C>A (p.His1729Asn) rs387907362
NM_005120.3(MED12):c.5898dup (p.Ser1967fs) rs879255527
NM_005120.3(MED12):c.5922G>T (p.Gln1974His) rs879255528
NM_005333.5(HCCS):c.589C>T (p.Arg197Ter) rs121917888
NM_005333.5(HCCS):c.649C>T (p.Arg217Cys) rs121917889
NM_005629.4(SLC6A8):c.1216_1218TTC[2] (p.Phe408del) rs80338740
NM_005629.4(SLC6A8):c.1631C>T (p.Pro544Leu) rs397515558
NM_005629.4(SLC6A8):c.1661C>T (p.Pro554Leu) rs397515559
NM_005629.4(SLC6A8):c.318_320CTT[1] (p.Phe107del) rs80338739
NM_006517.5(SLC16A2):c.1079T>G (p.Leu360Trp) rs104894939
NM_006517.5(SLC16A2):c.1253T>C (p.Leu418Pro) rs367543059
NM_006517.5(SLC16A2):c.1276_1278TTC[1] (p.Phe427del) rs113994164
NM_006517.5(SLC16A2):c.1481T>C (p.Leu494Pro) rs104894938
NM_006517.5(SLC16A2):c.1613del (p.Pro538fs) rs113994166
NM_006517.5(SLC16A2):c.359C>T (p.Ser120Phe) rs113994162
NP_003602.1:p.Ser620Cysfs*8
OCRL:exon 6-12 del
Single allele

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