Type | Name | Gene Symbol | Clinical Significance | Chromosome | Start | Stop | Reference Allele | Alternate Allele | Review Status | Other IDs |
---|---|---|---|---|---|---|---|---|---|---|
(GRCh37) | ||||||||||
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 |
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 | NC_000009.12:g.(?_21994140)_(21994331_?)del | CDKN2A | Pathogenic | 9 | 21994139 | 21994330 | na | na | criteria provided, single submitter | - |
single nucleotide variant | NM_058195.4(CDKN2A):c.97G>T (p.Glu33Ter) | CDKN2A | Pathogenic | 9 | 21994234 | 21994234 | C | A | criteria provided, single submitter | - |