single nucleotide variant | NM_000077.5(CDKN2A):c.296G>C (p.Arg99Pro) | CDKN2A | Likely pathogenic | 9 | 21971062 | 21971062 | C | G | criteria provided, multiple submitters, no conflicts | ClinGen:CA373086116 |
Deletion | NM_000077.5(CDKN2A):c.238del (p.Arg80fs) | CDKN2A | Likely pathogenic | 9 | 21971120 | 21971120 | CG | C | criteria provided, single submitter | - |
Duplication | NM_000077.5(CDKN2A):c.359_360dup (p.Leu121fs) | CDKN2A | Likely pathogenic | 9 | 21970997 | 21970998 | G | GCT | criteria provided, single submitter | - |
single nucleotide variant | NM_000077.5(CDKN2A):c.301G>T (p.Gly101Trp) | CDKN2A | Pathogenic | 9 | 21971057 | 21971057 | C | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA120387,UniProtKB:P42771#VAR_001464,OMIM:600160.0005 |
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.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 |
Duplication | NM_000077.5(CDKN2A):c.106dup (p.Ala36fs) | CDKN2A | Pathogenic | 9 | 21974720 | 21974721 | G | GC | criteria provided, multiple submitters, no conflicts | ClinGen:CA196201 |
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 |
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 |
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 |