ClinVar Miner

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

Included ClinVar conditions (168):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 59
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HGVS dbSNP
NC_000023.10:g.(?_149783042)_(149787632_?)del
NC_000023.10:g.(?_149826274)_(149826520_?)del
NC_000023.10:g.(?_149826274)_(149840088_?)del
NC_000023.10:g.(?_149826294)_(149826500_?)del
NC_000023.10:g.(?_99551255)_(99551893_?)del
NM_000033.4(ABCD1):c.1165C>G (p.Arg389Gly) rs128624215
NM_000033.4(ABCD1):c.1489-1G>A
NM_000033.4(ABCD1):c.1826A>G (p.Glu609Gly) rs1557055260
NM_000033.4(ABCD1):c.1866-1G>A rs1557055311
NM_000033.4(ABCD1):c.1998_1999insGC (p.His667fs) rs1557055392
NM_000033.4(ABCD1):c.442A>T (p.Asn148Tyr) rs1557052362
NM_000033.4(ABCD1):c.488G>A (p.Arg163His) rs1057517954
NM_000033.4(ABCD1):c.565C>T (p.Arg189Trp) rs1131691916
NM_000033.4(ABCD1):c.653C>T (p.Pro218Leu) rs1569540710
NM_000033.4(ABCD1):c.829G>A (p.Gly277Arg)
NM_000033.4(ABCD1):c.887A>G (p.Tyr296Cys) rs797044610
NM_000033.4(ABCD1):c.892G>A (p.Gly298Ser)
NM_000052.7(ATP7A):c.3111+1G>A rs1557236762
NM_000052.7(ATP7A):c.4006-1G>A rs1557238665
NM_000108.5(DLD):c.1123G>A (p.Glu375Lys) rs121964992
NM_000108.5(DLD):c.875+1G>A rs1328820332
NM_000194.3(HPRT1):c.609dup (p.His204fs) rs1556030169
NM_000194.3(HPRT1):c.610C>T (p.His204Tyr)
NM_000202.8(IDS):c.1006G>T (p.Gly336Trp) rs1557338581
NM_000252.2(MTM1):c.1204G>A (p.Gly402Arg) rs1569565525
NM_000252.2(MTM1):c.575A>G (p.Tyr192Cys) rs587783838
NM_000252.2(MTM1):c.679-1G>A rs672601324
NM_000276.4(OCRL):c.1244+1338_1366del
NM_000276.4(OCRL):c.2470-1G>A
NM_000276.4(OCRL):c.560+1G>C rs1569458883
NM_000531.6(OTC):c.118C>T (p.Arg40Cys) rs72554307
NM_000531.6(OTC):c.505C>G (p.Pro169Ala) rs72556277
NM_000531.6(OTC):c.613A>G (p.Met205Val) rs72558411
NM_000531.6(OTC):c.77+2dup rs1569270890
NM_000531.6(OTC):c.867+1126A>G rs1569281032
NM_001042537.1(SLC9A6):c.1472G>A (p.Gly491Asp) rs1569525357
NM_001042537.1(SLC9A6):c.899+1G>A rs1556617455
NM_001110556.2(FLNA):c.4142+1G>A
NM_001110556.2(FLNA):c.4143-1G>T rs1557177485
NM_001110556.2(FLNA):c.4596_4598+5del rs1557177279
NM_001110556.2(FLNA):c.5686+1G>C rs1557176315
NM_001110556.2(FLNA):c.586C>T (p.Arg196Trp) rs137853317
NM_001184880.1(PCDH19):c.79_2616+17371del
NM_001184880.2(PCDH19):c.1114C>T (p.Arg372Trp) rs796052812
NM_001184880.2(PCDH19):c.1342G>T (p.Asp448Tyr) rs1569314809
NM_001184880.2(PCDH19):c.2263_2288+1dup rs779136255
NM_001184880.2(PCDH19):c.2616+1G>A
NM_001184880.2(PCDH19):c.268G>C (p.Asp90His) rs1555985780
NM_001323289.2(CDKL5):c.587C>T (p.Ser196Leu) rs267608501
NM_003159.2(CDKL5):c.2046+1G>A rs786204976
NM_003159.2(CDKL5):c.826-2A>G rs1060501859
NM_003611.3(OFD1):c.2261-6C>G rs769923969
NM_003611.3(OFD1):c.312+1G>T rs1569102786
NM_005249.5(FOXG1):c.694A>G (p.Asn232Asp) rs786205486
NM_005249.5(FOXG1):c.703C>T (p.Leu235Phe) rs1566445489
NM_005249.5(FOXG1):c.812G>A (p.Gly271Asp) rs796052469
NM_006859.4(LIAS):c.737+1G>A
NM_006950.3(SYN1):c.528-2A>T rs1556860663
NM_015185.3(ARHGEF9):c.561+1G>A rs1569476483

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