Type | Name | Gene Symbol | Clinical Significance | Chromosome | Start | Stop | Reference Allele | Alternate Allele | Review Status | Other IDs |
---|---|---|---|---|---|---|---|---|---|---|
(GRCh37) | ||||||||||
Deletion | NM_001370259.2(MEN1):c.655-15_658del | MEN1 | Likely pathogenic | 11 | 64575149 | 64575167 | CAGCTCTTAGGGGGGGATGA | C | criteria provided, single submitter | - |
single nucleotide variant | NM_001370259.2(MEN1):c.655-1G>A | MEN1 | Pathogenic | 11 | 64575153 | 64575153 | C | T | criteria provided, single submitter | - |