ClinVar Miner

List of variants reported as pathogenic for X-linked lymphoproliferative syndrome

Included ClinVar conditions (4):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 35
Download table as spreadsheet
HGVS dbSNP
GRCh37/hg19 Xq25(chrX:122970459-123034511)
NC_000023.10:g.(?_123019487)_(123026643_?)del
NC_000023.10:g.(?_123025068)_(123026643_?)del
NC_000023.10:g.(?_123480147)_(123505261_?)del
NC_000023.10:g.(?_123499591)_(123505261_?)del
NM_001167.3(XIAP):c.1021_1022del (p.Asn341fs) rs1556406033
NM_001167.3(XIAP):c.1045_1047GAG[1] (p.Glu350del) rs199683465
NM_001167.3(XIAP):c.108del (p.Pro37fs) rs1556404455
NM_001167.3(XIAP):c.292del (p.Glu99fs) rs1556404534
NM_001167.3(XIAP):c.352G>T (p.Glu118Ter) rs104894764
NM_001167.3(XIAP):c.389_392del (p.Asp130fs) rs1556404575
NM_001167.3(XIAP):c.566T>C (p.Leu189Pro) rs1569477871
NM_001167.3(XIAP):c.608G>A (p.Cys203Tyr) rs387907301
NM_001167.3(XIAP):c.651del (p.Trp217fs) rs1556404673
NM_001167.3(XIAP):c.664C>T (p.Arg222Ter) rs1556404684
NM_001167.3(XIAP):c.672dup (p.Pro225fs) rs1556404697
NM_001167.3(XIAP):c.712C>T (p.Arg238Ter)
NM_001167.3(XIAP):c.955C>T (p.Gln319Ter)
NM_002351.4(SH2D1A):c.137+5G>C rs587777612
NM_002351.4(SH2D1A):c.163C>T (p.Arg55Ter) rs111033623
NM_002351.4(SH2D1A):c.164G>T (p.Arg55Leu) rs111033630
NM_002351.4(SH2D1A):c.172C>T (p.Gln58Ter) rs111033628
NM_002351.4(SH2D1A):c.192G>A (p.Trp64Ter) rs1556620706
NM_002351.4(SH2D1A):c.203C>T (p.Thr68Ile) rs111033627
NM_002351.4(SH2D1A):c.20A>G (p.Tyr7Cys) rs1569527111
NM_002351.4(SH2D1A):c.302C>T (p.Pro101Leu) rs111033626
NM_002351.4(SH2D1A):c.385T>A (p.Ter129Arg) rs111033625
NM_002351.4(SH2D1A):c.3G>T (p.Met1Ile) rs111033629
NM_002351.4(SH2D1A):c.95G>C (p.Arg32Thr) rs111033624
SH2D1A, -10C-T
SH2D1A, 159-BP DEL
SH2D1A, 163C-T
SH2D1A, EX1DEL
SH2D1A, IVS2AS, G-T, -1
XIAP, 2606-BP DEL

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.