Type | Name | Gene Symbol | Clinical Significance | Chromosome | Start | Stop | Reference Allele | Alternate Allele | Review Status | Other IDs |
---|---|---|---|---|---|---|---|---|---|---|
(GRCh37) | ||||||||||
single nucleotide variant | NM_000187.4(HGD):c.158G>A (p.Arg53Gln) | HGD | Pathogenic/Likely pathogenic | 3 | 120393766 | 120393766 | C | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA2560335 |
single nucleotide variant | NM_000187.4(HGD):c.3G>C (p.Met1Ile) | HGD | Pathogenic/Likely pathogenic | 3 | 120400956 | 120400956 | C | G | criteria provided, multiple submitters, no conflicts | ClinGen:CA16040901 |