Type | Name | Gene Symbol | Clinical Significance | Chromosome | Start | Stop | Reference Allele | Alternate Allele | Review Status | Other IDs |
---|---|---|---|---|---|---|---|---|---|---|
(GRCh37) | ||||||||||
Deletion | NM_000077.5(CDKN2A):c.150+1del | CDKN2A | Likely pathogenic | 9 | 21974676 | 21974676 | AC | A | criteria provided, single submitter | ClinGen:CA10582656 |
Indel | NM_000077.5(CDKN2A):c.202_203delinsTT (p.Ala68Leu) | CDKN2A | Likely pathogenic | 9 | 21971155 | 21971156 | GC | AA | criteria provided, multiple submitters, no conflicts | ClinGen:CA10578845 |
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 |