ClinVar Miner

List of variants reported as not provided for X-linked syndromic intellectual disability

Included ClinVar conditions (163):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 44
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HGVS dbSNP
NC_000009.11:g.76940012C>T
NM_000276.3(OCRL):c.1009C>T (p.Arg337Cys) rs137853831
NM_000276.3(OCRL):c.1070G>A (p.Gly357Glu) rs137853854
NM_000276.3(OCRL):c.1082G>T (p.Arg361Ile) rs137853832
NM_000276.3(OCRL):c.1115T>G (p.Val372Gly) rs137853834
NM_000276.3(OCRL):c.1117A>T (p.Asn373Tyr) rs137853835
NM_000276.3(OCRL):c.1121C>T (p.Ser374Phe) rs137853836
NM_000276.3(OCRL):c.1123C>T (p.His375Tyr) rs137853848
NM_000276.3(OCRL):c.1241A>G (p.His414Arg) rs137853837
NM_000276.3(OCRL):c.1262G>A (p.Gly421Glu) rs137853855
NM_000276.3(OCRL):c.1270A>G (p.Asn424Asp) rs137853856
NM_000276.3(OCRL):c.1351G>A (p.Asp451Asn) rs137853838
NM_000276.3(OCRL):c.1352A>G (p.Asp451Gly) rs137853850
NM_000276.3(OCRL):c.1369C>G (p.Arg457Gly) rs137853839
NM_000276.3(OCRL):c.1388T>C (p.Phe463Ser) rs137853851
NM_000276.3(OCRL):c.1402G>A (p.Glu468Lys) rs137853840
NM_000276.3(OCRL):c.1403A>G (p.Glu468Gly) rs137853841
NM_000276.3(OCRL):c.1493G>A (p.Cys498Tyr) rs137853857
NM_000276.3(OCRL):c.1495G>C (p.Asp499His) rs137853842
NM_000276.3(OCRL):c.1499G>A (p.Arg500Gln) rs137853260
NM_000276.3(OCRL):c.1507T>C (p.Trp503Arg) rs137853843
NM_000276.3(OCRL):c.1523T>A (p.Val508Asp) rs137853849
NM_000276.3(OCRL):c.1538A>G (p.Tyr513Cys) rs137853847
NM_000276.3(OCRL):c.1566C>G (p.Ser522Arg) rs137853853
NM_000276.3(OCRL):c.1571A>G (p.His524Arg) rs137853852
NM_000276.3(OCRL):c.1572C>G (p.His524Gln) rs137853261
NM_000276.3(OCRL):c.1577C>T (p.Pro526Leu) rs137853858
NM_000276.3(OCRL):c.1773C>A (p.Asn591Lys) rs137853844
NM_000276.3(OCRL):c.2672T>G (p.Leu891Arg) rs137853845
NM_000276.3(OCRL):c.725T>C (p.Phe242Ser) rs137853828
NM_000276.3(OCRL):c.821T>C (p.Ile274Thr) rs137853829
NM_000276.3(OCRL):c.830A>G (p.Gln277Arg) rs137853830
NM_000276.3(OCRL):c.952C>T (p.Arg318Cys) rs137853263
NM_000489.5(ATRX):c.6718C>T (p.Leu2240Phe) rs199474698
NM_001110556.1(FLNA):c.1571G>A (p.Gly524Glu) rs1557178957
NM_001184896.1(PHF8):c.49C>T (p.Pro17Ser) rs1557116325
NM_002495.3(NDUFS4):c.351-11_351-8delGTTT rs375549253
NM_003477.2(PDHX):c.479G>A (p.Arg160His) rs747386411
NM_004187.3(KDM5C):c.470A>G (p.Tyr157Cys) rs1556852793
NM_004541.3(NDUFA1):c.94G>C (p.Gly32Arg) rs1801316
NM_005629.3(SLC6A8):c.1601T>C (p.Ile534Thr) rs797045971
NM_007103.3(NDUFV1):c.491A>G (p.Asn164Ser)
NM_018684.3(ZC4H2):c.54-1G>A
NM_025152.2(NUBPL):c.545T>C (p.Val182Ala) rs61752327

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