ClinVar Miner

List of variants reported as uncertain significance for Neurofibromatosis, type 2 by Mendelics

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 19
Download table as spreadsheet
HGVS dbSNP
NM_000268.4(NF2):c.-142del rs1569259403
NM_000268.4(NF2):c.1013G>A (p.Arg338His) rs768053145
NM_000268.4(NF2):c.1059G>C (p.Arg353Ser) rs1379674036
NM_000268.4(NF2):c.1113C>G (p.Asn371Lys) rs142459414
NM_000268.4(NF2):c.1386C>T (p.Arg462=) rs138354622
NM_000268.4(NF2):c.1387G>A (p.Glu463Lys) rs74315503
NM_000268.4(NF2):c.1445C>T (p.Pro482Leu) rs766339217
NM_000268.4(NF2):c.1451T>C (p.Met484Thr) rs141538143
NM_000268.4(NF2):c.1540A>G (p.Met514Val) rs201527155
NM_000268.4(NF2):c.1699G>A (p.Asp567Asn) rs757586383
NM_000268.4(NF2):c.1724A>G (p.Asn575Ser) rs1569312127
NM_000268.4(NF2):c.1737+1432G>A rs746764835
NM_000268.4(NF2):c.215T>C (p.Val72Ala) rs1260510937
NM_000268.4(NF2):c.349T>G (p.Leu117Val) rs1569281810
NM_000268.4(NF2):c.401C>T (p.Pro134Leu) rs1029716358
NM_000268.4(NF2):c.610G>C (p.Glu204Gln) rs1569295916
NM_000268.4(NF2):c.613A>G (p.Met205Val) rs141629512
NM_000268.4(NF2):c.817A>G (p.Ile273Val) rs1368184325
NM_000268.4(NF2):c.947T>G (p.Leu316Trp) rs750633919

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.