ClinVar Miner

List of variants reported as pathogenic for X-linked syndromic intellectual disability by Baylor Miraca Genetics Laboratories,

Included ClinVar conditions (168):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 40
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HGVS dbSNP
GRCh37/hg19 Xq21.1(chrX:77244108-77244998)
GRCh37/hg19 Xq24(chrX:118714474-118718137)
GRCh37/hg19 Xq26.1-26.2(chrX:130280298-132670366)
GRCh37/hg19 Xq28(chrX:147642893-147870805)
GRCh37/hg19 Xq28(chrX:152980470-153032459)
GRCh37/hg19 Xq28(chrX:153174571-153609996)
NM_000252.2(MTM1):c.1262G>A (p.Arg421Gln) rs587783772
NM_000276.4(OCRL):c.1621C>T (p.Arg541Ter) rs1182741031
NM_000284.4(PDHA1):c.1026_1039del (p.Arg343fs) rs1569194036
NM_000284.4(PDHA1):c.292-23A>G rs1057518702
NM_000284.4(PDHA1):c.482A>G (p.Tyr161Cys) rs1569190962
NM_000284.4(PDHA1):c.523G>A (p.Ala175Thr) rs1569191372
NM_000314.7(PTEN):c.517C>T (p.Arg173Cys) rs121913293
NM_000489.5(ATRX):c.109C>T (p.Arg37Ter) rs122445108
NM_000489.5(ATRX):c.4317G>A (p.Lys1439=) rs1569535642
NM_000489.5(ATRX):c.477del (p.Lys159fs)
NM_000533.5(PLP1):c.166C>T (p.Gln56Ter) rs1569427311
NM_001008537.3(NEXMIF):c.1376_1377del (p.Asp458_Cys459insTer) rs1057518730
NM_001008537.3(NEXMIF):c.2886_2887CT[1] (p.Ser963fs) rs1569335265
NM_001008537.3(NEXMIF):c.4248dup (p.Gly1417fs) rs1057518728
NM_001029896.2(WDR45):c.131-11_145del rs1569523544
NM_001029896.2(WDR45):c.397C>T (p.Arg133Ter) rs797046101
NM_001110792.2(MECP2):c.916C>T (p.Arg306Ter) rs61751362
NM_001128834.2(PLP1):c.1A>G (p.Met1Val) rs797045064
NM_001184880.2(PCDH19):c.1676del (p.Asn559fs) rs1569314475
NM_001323289.2(CDKL5):c.868C>T (p.Gln290Ter) rs1569218019
NM_001356.4(DDX3X):c.1052G>A (p.Arg351Gln) rs1057518707
NM_002294.2(LAMP2):c.138G>A (p.Trp46Ter) rs1271031981
NM_003611.3(OFD1):c.400_403del (p.Glu134fs) rs312262830
NM_003688.3(CASK):c.79C>T (p.Arg27Ter) rs794727270
NM_003688.3(CASK):c.913_914dup (p.Gly306fs)
NM_004992.3(MECP2):c.806del (p.Gly269fs) rs61750241
NM_004992.3(MECP2):c.925C>T (p.Arg309Trp) rs61751444
NM_005120.3(MED12):c.2881C>T (p.Arg961Trp) rs80338758
NM_005629.4(SLC6A8):c.[1429_1430delinsAG];[1429_1596+39del]
NM_005710.2(PQBP1):c.586C>T (p.Arg196Ter) rs1557041672
NM_005710.2(PQBP1):c.640dup (p.Arg214fs) rs606231196
NM_007103.4(NDUFV1):c.1268C>T (p.Thr423Met) rs121913659
NM_015107.3(PHF8):c.377del (p.Leu126fs) rs1057518729
NM_025152.2(NUBPL):c.[166G>A;815-27T>C]

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