Type | Name | Gene Symbol | Clinical Significance | Chromosome | Start | Stop | Reference Allele | Alternate Allele | Review Status | Other IDs |
---|---|---|---|---|---|---|---|---|---|---|
(GRCh37) | ||||||||||
single nucleotide variant | NM_000159.4(GCDH):c.914C>T (p.Ser305Leu) | GCDH | Pathogenic/Likely pathogenic | 19 | 13007785 | 13007785 | C | T | criteria provided, multiple submitters, no conflicts | - |
single nucleotide variant | NM_000159.4(GCDH):c.1298C>A (p.Ala433Glu) | GCDH | Pathogenic/Likely pathogenic | 19 | 13010336 | 13010336 | C | A | criteria provided, multiple submitters, no conflicts | - |