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 |
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 |
single nucleotide variant | NM_058195.4(CDKN2A):c.193+5G>A | CDKN2A | Pathogenic/Likely pathogenic | 9 | 21994133 | 21994133 | C | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA166694 |
Duplication | NM_000077.5(CDKN2A):c.106dup (p.Ala36fs) | CDKN2A | Pathogenic | 9 | 21974720 | 21974721 | G | GC | criteria provided, multiple submitters, no conflicts | ClinGen:CA196201 |