Type | Name | Gene Symbol | Clinical Significance | Chromosome | Start | Stop | Reference Allele | Alternate Allele | Review Status | Other IDs |
---|---|---|---|---|---|---|---|---|---|---|
(GRCh37) | ||||||||||
single nucleotide variant | NM_000020.3(ACVRL1):c.1030T>C (p.Cys344Arg) | ACVRL1 | Pathogenic/Likely pathogenic | 12 | 52309266 | 52309266 | T | C | criteria provided, multiple submitters, no conflicts | - |
single nucleotide variant | NM_000020.3(ACVRL1):c.1046T>C (p.Leu349Pro) | ACVRL1 | Pathogenic/Likely pathogenic | 12 | 52309282 | 52309282 | T | C | criteria provided, multiple submitters, no conflicts | - |