single nucleotide variant | NM_058195.4(CDKN2A):c.193+1G>A | CDKN2A | Pathogenic | 9 | 21994137 | 21994137 | C | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA16612794,OMIM:600160.0020 |
Deletion | NM_000077.5(CDKN2A):c.358del (p.Glu120fs) | CDKN2A | Pathogenic | 9 | 21971000 | 21971000 | TC | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA16612781 |
single nucleotide variant | NM_000077.5(CDKN2A):c.249C>G (p.His83Gln) | CDKN2A | Pathogenic | 9 | 21971109 | 21971109 | G | C | criteria provided, single submitter | ClinGen:CA16602820 |
single nucleotide variant | NM_000077.5(CDKN2A):c.172C>T (p.Arg58Ter) | CDKN2A | Pathogenic | 9 | 21971186 | 21971186 | G | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA16602756 |
single nucleotide variant | NM_000077.5(CDKN2A):c.262G>T (p.Glu88Ter) | CDKN2A | Pathogenic | 9 | 21971096 | 21971096 | C | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA16602751 |
single nucleotide variant | NM_000077.5(CDKN2A):c.329G>A (p.Trp110Ter) | CDKN2A | Pathogenic | 9 | 21971029 | 21971029 | C | T | criteria provided, single submitter | ClinGen:CA16602750 |
single nucleotide variant | NM_000077.5(CDKN2A):c.330G>A (p.Trp110Ter) | CDKN2A | Pathogenic | 9 | 21971028 | 21971028 | C | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA16602749 |
single nucleotide variant | NM_000077.5(CDKN2A):c.44G>A (p.Trp15Ter) | CDKN2A | Pathogenic | 9 | 21974783 | 21974783 | C | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA10578852 |
Deletion | NM_000077.5(CDKN2A):c.212del (p.Asn71fs) | CDKN2A | Pathogenic | 9 | 21971146 | 21971146 | GT | G | criteria provided, single submitter | ClinGen:CA10578844 |
Deletion | NM_000077.5(CDKN2A):c.175_212del (p.Val59fs) | CDKN2A | Pathogenic | 9 | 21971146 | 21971183 | GTTGGGCTCCGCGCCGTGGAGCAGCAGCAGCTCCGCCAC | G | criteria provided, single submitter | ClinGen:CA10578843 |