ClinVar Miner

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

Included ClinVar conditions (212):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 60
Download table as spreadsheet
HGVS dbSNP
NM_000276.4(OCRL):c.1009C>T (p.Arg337Cys) rs137853831
NM_000276.4(OCRL):c.1070G>A (p.Gly357Glu) rs137853854
NM_000276.4(OCRL):c.1082G>T (p.Arg361Ile) rs137853832
NM_000276.4(OCRL):c.1115T>G (p.Val372Gly) rs137853834
NM_000276.4(OCRL):c.1117A>T (p.Asn373Tyr) rs137853835
NM_000276.4(OCRL):c.1121C>T (p.Ser374Phe) rs137853836
NM_000276.4(OCRL):c.1123C>T (p.His375Tyr) rs137853848
NM_000276.4(OCRL):c.1241A>G (p.His414Arg) rs137853837
NM_000276.4(OCRL):c.1262G>A (p.Gly421Glu) rs137853855
NM_000276.4(OCRL):c.1270A>G (p.Asn424Asp) rs137853856
NM_000276.4(OCRL):c.1351G>A (p.Asp451Asn) rs137853838
NM_000276.4(OCRL):c.1352A>G (p.Asp451Gly) rs137853850
NM_000276.4(OCRL):c.1369C>G (p.Arg457Gly) rs137853839
NM_000276.4(OCRL):c.1388T>C (p.Phe463Ser) rs137853851
NM_000276.4(OCRL):c.1402G>A (p.Glu468Lys) rs137853840
NM_000276.4(OCRL):c.1403A>G (p.Glu468Gly) rs137853841
NM_000276.4(OCRL):c.1493G>A (p.Cys498Tyr) rs137853857
NM_000276.4(OCRL):c.1495G>C (p.Asp499His) rs137853842
NM_000276.4(OCRL):c.1499G>A (p.Arg500Gln) rs137853260
NM_000276.4(OCRL):c.1507T>C (p.Trp503Arg) rs137853843
NM_000276.4(OCRL):c.1523T>A (p.Val508Asp) rs137853849
NM_000276.4(OCRL):c.1538A>G (p.Tyr513Cys) rs137853847
NM_000276.4(OCRL):c.1566C>G (p.Ser522Arg) rs137853853
NM_000276.4(OCRL):c.1571A>G (p.His524Arg) rs137853852
NM_000276.4(OCRL):c.1572C>G (p.His524Gln) rs137853261
NM_000276.4(OCRL):c.1577C>T (p.Pro526Leu) rs137853858
NM_000276.4(OCRL):c.1773C>A (p.Asn591Lys) rs137853844
NM_000276.4(OCRL):c.2672T>G (p.Leu891Arg) rs137853845
NM_000276.4(OCRL):c.725T>C (p.Phe242Ser) rs137853828
NM_000276.4(OCRL):c.821T>C (p.Ile274Thr) rs137853829
NM_000276.4(OCRL):c.830A>G (p.Gln277Arg) rs137853830
NM_000276.4(OCRL):c.952C>T (p.Arg318Cys) rs137853263
NM_000489.5(ATRX):c.6718C>T (p.Leu2240Phe) rs199474698
NM_000489.5(ATRX):c.736C>T (p.Arg246Cys) rs122445105
NM_001008537.3(NEXMIF):c.4268G>A (p.Arg1423His) rs750153892
NM_001110556.2(FLNA):c.1571G>A (p.Gly524Glu) rs1557178957
NM_001110792.2(MECP2):c.331dup (p.Thr111fs) rs1603310755
NM_001323289.2(CDKL5):c.59G>T (p.Gly20Val)
NM_002495.4(NDUFS4):c.351-11_351-8del rs375549253
NM_003477.3(PDHX):c.479G>A (p.Arg160His) rs747386411
NM_004187.5(KDM5C):c.4286C>T (p.Pro1429Leu)
NM_004187.5(KDM5C):c.470A>G (p.Tyr157Cys) rs1556852793
NM_004541.4(NDUFA1):c.94G>C (p.Gly32Arg) rs1801316
NM_005006.7(NDUFS1):c.529A>G (p.Ile177Val) rs140126185
NM_005249.5(FOXG1):c.1062del (p.Ser355fs)
NM_005629.4(SLC6A8):c.-5A>G rs384573
NM_005629.4(SLC6A8):c.1000_1002AAC[2] (p.Asn336del) rs782433037
NM_005629.4(SLC6A8):c.1145C>T (p.Pro382Leu) rs1557045250
NM_005629.4(SLC6A8):c.1216_1218TTC[2] (p.Phe408del) rs80338740
NM_005629.4(SLC6A8):c.1601T>C (p.Ile534Thr) rs797045971
NM_005629.4(SLC6A8):c.318_320CTT[1] (p.Phe107del) rs80338739
NM_005629.4(SLC6A8):c.829_843dup (p.Val277_Leu281dup) rs1603216676
NM_005629.4(SLC6A8):c.964G>T (p.Gly322Trp) rs1603216830
NM_007103.4(NDUFV1):c.491A>G (p.Asn164Ser) rs1024767789
NM_015107.3(PHF8):c.-60C>T rs1557116325
NM_018684.4(ZC4H2):c.54-1G>A rs1569201245
NM_025152.3(NUBPL):c.545T>C (p.Val182Ala) rs61752327
NM_031407.7(HUWE1):c.9209G>A (p.Arg3070His)
NM_139058.3(ARX):c.441_455dup (p.Ala151_Ala155dup) rs750585274
Single allele

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.