ClinVar Miner

List of variants in gene NOTCH2 reported as uncertain significance for abdominal and pelvic region disorder

Included ClinVar conditions (902):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 20
Download table as spreadsheet
HGVS dbSNP
NM_024408.4(NOTCH2):c.1280G>A (p.Cys427Tyr) rs1557825800
NM_024408.4(NOTCH2):c.1804G>A (p.Ala602Thr) rs140311741
NM_024408.4(NOTCH2):c.1915+2dup
NM_024408.4(NOTCH2):c.1957C>A (p.Pro653Thr) rs1553198769
NM_024408.4(NOTCH2):c.2945T>C (p.Val982Ala)
NM_024408.4(NOTCH2):c.3206G>A (p.Arg1069Gln) rs146014987
NM_024408.4(NOTCH2):c.3652C>T (p.Arg1218Trp) rs587641573
NM_024408.4(NOTCH2):c.4304G>A (p.Arg1435Gln)
NM_024408.4(NOTCH2):c.4639C>G (p.Leu1547Val) rs1241715192
NM_024408.4(NOTCH2):c.4897G>A (p.Val1633Ile) rs116321057
NM_024408.4(NOTCH2):c.5218C>A (p.Leu1740Ile) rs747138507
NM_024408.4(NOTCH2):c.5731C>T (p.Arg1911Cys) rs748716440
NM_024408.4(NOTCH2):c.5945A>G (p.His1982Arg) rs1553193747
NM_024408.4(NOTCH2):c.6118G>A (p.Asp2040Asn) rs748876258
NM_024408.4(NOTCH2):c.6160A>G (p.Met2054Val)
NM_024408.4(NOTCH2):c.6251T>A (p.Ile2084Asn) rs757880322
NM_024408.4(NOTCH2):c.6893G>A (p.Arg2298Gln) rs140832430
NM_024408.4(NOTCH2):c.6916A>T (p.Thr2306Ser) rs1557801809
NM_024408.4(NOTCH2):c.6956C>T (p.Ala2319Val) rs373527990
NM_024408.4(NOTCH2):c.956A>G (p.Asn319Ser) rs144936899

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.