Type | Name | Gene Symbol | Clinical Significance | Chromosome | Start | Stop | Reference Allele | Alternate Allele | Review Status | Other IDs |
---|---|---|---|---|---|---|---|---|---|---|
(GRCh37) | ||||||||||
single nucleotide variant | NM_001370259.2(MEN1):c.1A>G (p.Met1Val) | MEN1 | Pathogenic/Likely pathogenic | 11 | 64577581 | 64577581 | T | C | criteria provided, multiple submitters, no conflicts | ClinGen:CA009318 |
single nucleotide variant | NM_001370259.2(MEN1):c.1A>T (p.Met1Leu) | MEN1 | Pathogenic | 11 | 64577581 | 64577581 | T | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA381188344 |