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.268G>T (p.Glu90Ter) | RET | Pathogenic | 10 | 43596101 | 43596101 | G | T | criteria provided, single submitter | - |
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 |