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.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 |
Deletion | NC_000010.11:g.(?_43100449)_(43102639_?)del | RET | Likely pathogenic | 10 | 43595897 | 43598087 | na | na | criteria provided, single submitter | - |