Type | Name | Gene Symbol | Clinical Significance | Chromosome | Start | Stop | Reference Allele | Alternate Allele | Review Status | Other IDs |
---|---|---|---|---|---|---|---|---|---|---|
(GRCh37) | ||||||||||
single nucleotide variant | NM_020975.6(RET):c.989G>A (p.Arg330Gln) | RET | Likely pathogenic | 10 | 43601945 | 43601945 | G | A | criteria provided, single submitter | ClinGen:CA009415,UniProtKB:P07949#VAR_006302,OMIM:164761.0022 |
single nucleotide variant | NM_020975.6(RET):c.95C>T (p.Ser32Leu) | RET | Likely pathogenic | 10 | 43595928 | 43595928 | C | T | criteria provided, single submitter | ClinGen:CA009398,UniProtKB:P07949#VAR_006295,OMIM:164761.0018 |