Deletion | NC_000010.11:g.(?_43100449)_(43102639_?)del | RET | Likely pathogenic | 10 | 43595897 | 43598087 | na | na | 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 |
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.538C>T (p.Arg180Ter) | RET | Pathogenic | 10 | 43597990 | 43597990 | C | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA009273,OMIM:164761.0021 |
Duplication | NM_020975.6(RET):c.890dup (p.Val298fs) | RET | Pathogenic | 10 | 43601845 | 43601846 | C | CG | criteria provided, single submitter | ClinGen:CA10603140 |
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 |
Duplication | NM_020975.6(RET):c.1425dup (p.Pro476fs) | RET | Pathogenic | 10 | 43606814 | 43606815 | C | CG | criteria provided, single submitter | ClinGen:CA658797415 |
single nucleotide variant | NM_020975.6(RET):c.1597G>T (p.Gly533Cys) | RET | Pathogenic | 10 | 43607621 | 43607621 | G | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA007675,OMIM:164761.0048 |
single nucleotide variant | NM_020975.6(RET):c.1783G>T (p.Glu595Ter) | RET | Pathogenic | 10 | 43609027 | 43609027 | G | T | criteria provided, single submitter | - |
single nucleotide variant | NM_020975.6(RET):c.1817A>G (p.Tyr606Cys) | RET | Likely pathogenic | 10 | 43609061 | 43609061 | A | G | criteria provided, single submitter | ClinGen:CA007781 |