Deletion | NM_000077.5(CDKN2A):c.150+1del | CDKN2A | Likely pathogenic | 9 | 21974676 | 21974676 | AC | A | criteria provided, single submitter | ClinGen:CA10582656 |
single nucleotide variant | NM_000077.5(CDKN2A):c.150+2T>C | CDKN2A | Likely pathogenic | 9 | 21974675 | 21974675 | A | G | criteria provided, single submitter | ClinGen:CA16612864 |
single nucleotide variant | NM_000077.5(CDKN2A):c.151-2A>G | CDKN2A | Pathogenic/Likely pathogenic | 9 | 21971209 | 21971209 | T | C | criteria provided, multiple submitters, no conflicts | ClinGen:CA373086464 |
single nucleotide variant | NM_000077.5(CDKN2A):c.151-1G>A | CDKN2A | Pathogenic | 9 | 21971208 | 21971208 | C | T | criteria provided, multiple submitters, no conflicts | - |
single nucleotide variant | NM_000077.5(CDKN2A):c.151-1G>T | CDKN2A | Pathogenic/Likely pathogenic | 9 | 21971208 | 21971208 | C | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA16618833 |
single nucleotide variant | NM_000077.5(CDKN2A):c.151-1G>C | CDKN2A | Pathogenic | 9 | 21971208 | 21971208 | C | G | criteria provided, multiple submitters, no conflicts | ClinGen:CA299032 |
single nucleotide variant | NM_000077.5(CDKN2A):c.159G>A (p.Met53Ile) | CDKN2A | Pathogenic/Likely pathogenic | 9 | 21971199 | 21971199 | C | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA190730408 |
single nucleotide variant | NM_000077.5(CDKN2A):c.159G>C (p.Met53Ile) | CDKN2A | Pathogenic | 9 | 21971199 | 21971199 | C | G | criteria provided, multiple submitters, no conflicts | ClinGen:CA120391,UniProtKB:P42771#VAR_001424,OMIM:600160.0007 |
single nucleotide variant | NM_000077.5(CDKN2A):c.167G>T (p.Ser56Ile) | CDKN2A | Pathogenic/Likely pathogenic | 9 | 21971191 | 21971191 | C | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA120412,UniProtKB:P42771#VAR_001425,OMIM:600160.0018 |
single nucleotide variant | NM_000077.5(CDKN2A):c.172C>T (p.Arg58Ter) | CDKN2A | Pathogenic | 9 | 21971186 | 21971186 | G | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA16602756 |