Deletion | NM_000077.5(CDKN2A):c.175_212del (p.Val59fs) | CDKN2A | Pathogenic | 9 | 21971146 | 21971183 | GTTGGGCTCCGCGCCGTGGAGCAGCAGCAGCTCCGCCAC | G | criteria provided, single submitter | ClinGen:CA10578843 |
single nucleotide variant | NM_000077.5(CDKN2A):c.334C>G (p.Arg112Gly) | CDKN2A | Pathogenic/Likely pathogenic | 9 | 21971024 | 21971024 | G | C | criteria provided, multiple submitters, no conflicts | ClinGen:CA10578837 |
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.47T>G (p.Leu16Arg) | CDKN2A | Pathogenic/Likely pathogenic | 9 | 21974780 | 21974780 | A | C | criteria provided, multiple submitters, no conflicts | ClinGen:CA350461 |
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_000077.5(CDKN2A):c.457G>T (p.Asp153Tyr) | CDKN2A | Pathogenic/Likely pathogenic | 9 | 21970901 | 21970901 | C | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA337714 |
single nucleotide variant | NM_000077.5(CDKN2A):c.142C>A (p.Pro48Thr) | CDKN2A | Pathogenic/Likely pathogenic | 9 | 21974685 | 21974685 | G | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA334526 |
single nucleotide variant | NM_000077.5(CDKN2A):c.149A>C (p.Gln50Pro) | CDKN2A | Likely pathogenic | 9 | 21974678 | 21974678 | T | G | criteria provided, multiple submitters, no conflicts | ClinGen:CA198385 |
single nucleotide variant | NM_000077.5(CDKN2A):c.179C>A (p.Ala60Glu) | CDKN2A | Likely pathogenic | 9 | 21971179 | 21971179 | G | T | criteria provided, single submitter | ClinGen:CA194216 |
Duplication | NM_000077.5(CDKN2A):c.335_337dup (p.Arg112dup) | CDKN2A | Pathogenic/Likely pathogenic | 9 | 21971020 | 21971021 | A | AGAC | criteria provided, multiple submitters, no conflicts | ClinGen:CA186348 |