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.231C>G (p.Tyr77Ter) | MEN1 | Pathogenic/Likely pathogenic | 11 | 64577351 | 64577351 | G | C | criteria provided, multiple submitters, no conflicts | ClinGen:CA381187598 |
single nucleotide variant | NM_020975.6(RET):c.1879+1G>A | RET | Pathogenic/Likely pathogenic | 10 | 43609124 | 43609124 | G | A | criteria provided, multiple submitters, no conflicts | - |