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 | - |
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 | - |
Duplication | NM_000159.4(GCDH):c.1173dup (p.Asn392fs) | GCDH | Pathogenic/Likely pathogenic | 19 | 13008600 | 13008601 | T | TG | criteria provided, multiple submitters, no conflicts | - |
single nucleotide variant | NM_000159.4(GCDH):c.337T>C (p.Tyr113His) | GCDH | Pathogenic/Likely pathogenic | 19 | 13004299 | 13004299 | T | C | criteria provided, multiple submitters, no conflicts | - |
single nucleotide variant | NM_000159.4(GCDH):c.301G>A (p.Gly101Arg) | GCDH | Pathogenic/Likely pathogenic | 19 | 13002959 | 13002959 | G | A | criteria provided, multiple submitters, no conflicts | - |
single nucleotide variant | NM_000159.4(GCDH):c.1244-2A>G | GCDH | Pathogenic/Likely pathogenic | 19 | 13010280 | 13010280 | A | G | criteria provided, multiple submitters, no conflicts | - |
single nucleotide variant | NM_000159.4(GCDH):c.334G>T (p.Gly112Ter) | GCDH | Pathogenic/Likely pathogenic | 19 | 13002992 | 13002992 | G | T | criteria provided, multiple submitters, no conflicts | - |
single nucleotide variant | NM_000159.4(GCDH):c.192G>T (p.Glu64Asp) | GCDH | Pathogenic/Likely pathogenic | 19 | 13002709 | 13002709 | G | T | criteria provided, multiple submitters, no conflicts | - |
single nucleotide variant | NM_000159.4(GCDH):c.770G>A (p.Arg257Gln) | GCDH | Pathogenic/Likely pathogenic | 19 | 13007153 | 13007153 | G | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA9234482 |
single nucleotide variant | NM_000159.4(GCDH):c.262C>A (p.Arg88Ser) | GCDH | Pathogenic/Likely pathogenic | 19 | 13002779 | 13002779 | C | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA305500199 |