List of variants studied for X-linked lymphoproliferative disease due to SH2D1A deficiency by OMIM

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
		ClinVar version:

Total variants: 13

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NC_000023.11:g.(?_124346562)_(124346780_124365760)del
NM_002351.5(SH2D1A):c.-10C>T	rs1603236465
NM_002351.5(SH2D1A):c.137+5G>C	rs587777612
NM_002351.5(SH2D1A):c.138-1G>T	rs1603238847
NM_002351.5(SH2D1A):c.149_201+106del
NM_002351.5(SH2D1A):c.163C>T (p.Arg55Ter)	rs111033623
NM_002351.5(SH2D1A):c.164G>T (p.Arg55Leu)	rs111033630
NM_002351.5(SH2D1A):c.172C>T (p.Gln58Ter)	rs111033628
NM_002351.5(SH2D1A):c.203C>T (p.Thr68Ile)	rs111033627
NM_002351.5(SH2D1A):c.302C>T (p.Pro101Leu)	rs111033626
NM_002351.5(SH2D1A):c.385T>A (p.Ter129Arg)	rs111033625
NM_002351.5(SH2D1A):c.3G>T (p.Met1Ile)	rs111033629
NM_002351.5(SH2D1A):c.95G>C (p.Arg32Thr)	rs111033624

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.