Deletion | NC_000009.12:g.(?_21994129)_(21994341_?)del | CDKN2A | Pathogenic | 9 | 21994128 | 21994340 | na | na | criteria provided, single submitter | - |
Indel | NM_000077.5(CDKN2A):c.41_43delinsG (p.Asp14fs) | CDKN2A | Pathogenic | 9 | 21974784 | 21974786 | AGT | C | criteria provided, single submitter | - |
single nucleotide variant | NM_000077.5(CDKN2A):c.47T>C (p.Leu16Pro) | CDKN2A | Pathogenic/Likely pathogenic | 9 | 21974780 | 21974780 | A | G | criteria provided, multiple submitters, no conflicts | - |
single nucleotide variant | NM_000077.5(CDKN2A):c.132C>A (p.Tyr44Ter) | CDKN2A | Pathogenic | 9 | 21974695 | 21974695 | G | T | criteria provided, single submitter | - |
Deletion | NM_000077.5(CDKN2A):c.189del (p.Leu64fs) | CDKN2A | Pathogenic | 9 | 21971169 | 21971169 | GC | G | criteria provided, single submitter | - |
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.35C>A (p.Ser12Ter) | CDKN2A | Pathogenic | 9 | 21974792 | 21974792 | G | T | criteria provided, multiple submitters, no conflicts | - |
Duplication | NM_000077.5(CDKN2A):c.197dup (p.His66fs) | CDKN2A | Pathogenic | 9 | 21971160 | 21971161 | G | GT | criteria provided, single submitter | - |
Deletion | NM_000077.5(CDKN2A):c.69del (p.Arg24fs) | CDKN2A | Pathogenic | 9 | 21974758 | 21974758 | GA | G | 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 | - |