single nucleotide variant | NM_020975.6(RET):c.1879+1G>A | RET | Pathogenic/Likely pathogenic | 10 | 43609124 | 43609124 | G | A | criteria provided, multiple submitters, no conflicts | - |
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.1783G>T (p.Glu595Ter) | RET | Pathogenic | 10 | 43609027 | 43609027 | G | T | criteria provided, single submitter | - |
single nucleotide variant | NM_020975.6(RET):c.268G>T (p.Glu90Ter) | RET | Pathogenic | 10 | 43596101 | 43596101 | G | T | criteria provided, single submitter | - |
Duplication | NM_020975.6(RET):c.2865dup (p.Pro956fs) | RET | Pathogenic | 10 | 43619180 | 43619181 | A | AT | criteria provided, single submitter | - |
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.3288T>G (p.Tyr1096Ter) | RET | Likely pathogenic | 10 | 43623660 | 43623660 | T | G | criteria provided, single submitter | ClinGen:CA376559149 |
single nucleotide variant | NM_020975.6(RET):c.2689C>T (p.Arg897Ter) | RET | Pathogenic | 10 | 43615610 | 43615610 | C | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA16612889 |
single nucleotide variant | NM_020975.6(RET):c.2418C>G (p.Tyr806Ter) | RET | Pathogenic | 10 | 43615004 | 43615004 | C | G | criteria provided, single submitter | ClinGen:CA10606962 |
Duplication | NM_020975.6(RET):c.890dup (p.Val298fs) | RET | Pathogenic | 10 | 43601845 | 43601846 | C | CG | criteria provided, single submitter | ClinGen:CA10603140 |