Type | Name | Gene Symbol | Clinical Significance | Chromosome | Start | Stop | Reference Allele | Alternate Allele | Review Status | Other IDs |
---|---|---|---|---|---|---|---|---|---|---|
(GRCh37) | ||||||||||
single nucleotide variant | NM_005609.4(PYGM):c.1A>C (p.Met1Leu) | PYGM | Pathogenic | 11 | 64527370 | 64527370 | T | G | criteria provided, multiple submitters, no conflicts | ClinGen:CA270754,OMIM:608455.0004 |
single nucleotide variant | NM_005609.4(PYGM):c.1A>T (p.Met1Leu) | PYGM | Pathogenic | 11 | 64527370 | 64527370 | T | A | criteria provided, multiple submitters, no conflicts | - |