ClinVar Miner

List of variants reported as pathogenic for Histiocytic medullary reticulosis

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 19
Download table as spreadsheet
NM_000448.2(RAG1):c.1186C>T (p.Arg396Cys) rs104894289
NM_000448.2(RAG1):c.1187G>A (p.Arg396His) rs104894291
NM_000448.2(RAG1):c.1286A>G (p.Asp429Gly) rs104894292
NM_000448.2(RAG1):c.1681C>T (p.Arg561Cys) rs104894285
NM_000448.2(RAG1):c.1682G>A (p.Arg561His) rs104894284
NM_000448.2(RAG1):c.2210G>A (p.Arg737His) rs104894286
NM_000448.2(RAG1):c.2735A>G (p.Tyr912Cys) rs104894290
NM_000448.2(RAG1):c.983G>A (p.Cys328Tyr) rs121918571
NM_000536.4(RAG2):c.115A>G (p.Arg39Gly) rs121917897
NM_000536.4(RAG2):c.123C>G (p.Cys41Trp) rs121917895
NM_000536.4(RAG2):c.283G>A (p.Gly95Arg) rs36001797
NM_000536.4(RAG2):c.686G>A (p.Arg229Gln) rs121917894
NM_000536.4(RAG2):c.854T>G (p.Met285Arg) rs121917896
NM_001033855.3(DCLRE1C):c.103C>G (p.His35Asp) rs121908159
NM_001033855.3(DCLRE1C):c.2T>C (p.Met1Thr) rs121908158
RAG1, 1-BP DEL, 631T
RAG1, 1-BP DEL, 887A
RAG1, 13-BP DEL, NT1723
RAG1, 2-BP DEL, 368AA

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.