Duplication | NM_000077.5(CDKN2A):c.340_343dup (p.Val115fs) | CDKN2A | Pathogenic | 9 | 21971014 | 21971015 | A | ACGGG | criteria provided, single submitter | ClinGen:CA10578836 |
single nucleotide variant | NM_000077.5(CDKN2A):c.148C>T (p.Gln50Ter) | CDKN2A | Pathogenic | 9 | 21974679 | 21974679 | G | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA350345 |
single nucleotide variant | NM_058195.4(CDKN2A):c.194-3653G>T | CDKN2A | Pathogenic | 9 | 21974860 | 21974860 | C | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA299030,OMIM:600160.0010 |
Insertion | NM_000077.5(CDKN2A):c.131_132insAA (p.Tyr44Ter) | CDKN2A | Pathogenic | 9 | 21974695 | 21974696 | G | GTT | criteria provided, multiple submitters, no conflicts | ClinGen:CA299022 |
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 |
Deletion | NM_000077.5(CDKN2A):c.225_243del (p.Ala76fs) | CDKN2A | Pathogenic | 9 | 21971115 | 21971133 | CGGGTCGGGTGAGAGTGGCG | C | criteria provided, multiple submitters, no conflicts | ClinGen:CA299023 |
Deletion | NM_000077.5(CDKN2A):c.240_253del (p.Pro81fs) | CDKN2A | Pathogenic | 9 | 21971105 | 21971118 | GCGTCGTGCACGGGT | G | criteria provided, multiple submitters, no conflicts | ClinGen:CA299024 |
Duplication | NM_000077.5(CDKN2A):c.106dup (p.Ala36fs) | CDKN2A | Pathogenic | 9 | 21974720 | 21974721 | G | GC | criteria provided, multiple submitters, no conflicts | ClinGen:CA196201 |
single nucleotide variant | NM_000077.5(CDKN2A):c.377T>A (p.Val126Asp) | CDKN2A | Pathogenic | 9 | 21970981 | 21970981 | A | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA120398,UniProtKB:P42771#VAR_001479,OMIM:600160.0013 |
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 |