ClinVar Miner

List of variants reported as pathogenic for Niemann-Pick disease, type C2 by OMIM

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 10
Download table as spreadsheet
HGVS dbSNP
NM_006432.4(NPC2):c.115G>A (p.Val39Met) rs80358261
NM_006432.4(NPC2):c.190+5G>A rs80358268
NM_006432.4(NPC2):c.199T>C (p.Ser67Pro) rs11694
NM_006432.4(NPC2):c.27del (p.Leu10fs) rs80358267
NM_006432.4(NPC2):c.352G>T (p.Glu118Ter) rs80358266
NM_006432.4(NPC2):c.358C>T (p.Pro120Ser) rs104894458
NM_006432.4(NPC2):c.436C>T (p.Gln146Ter) rs104894457
NM_006432.4(NPC2):c.58G>T (p.Glu20Ter) rs80358260
NM_006432.4(NPC2):c.82+2T>C rs879253740
NPC2, 1-BP DEL, 111A

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.