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.1182T>G (p.Ile394Met) | GCDH | Pathogenic | 19 | 13008616 | 13008616 | T | G | criteria provided, single submitter | - |
single nucleotide variant | NM_000159.4(GCDH):c.679C>T (p.Arg227Trp) | GCDH | Pathogenic | 19 | 13007062 | 13007062 | C | T | criteria provided, single submitter | - |
single nucleotide variant | NM_000159.4(GCDH):c.553G>A (p.Gly185Arg) | GCDH | Pathogenic | 19 | 13006853 | 13006853 | G | A | criteria provided, single submitter | - |
single nucleotide variant | NM_000159.4(GCDH):c.386A>C (p.Glu129Ala) | GCDH | Pathogenic | 19 | 13004348 | 13004348 | A | C | criteria provided, single submitter | - |
single nucleotide variant | NM_000159.4(GCDH):c.1118A>G (p.Asn373Ser) | GCDH | Likely pathogenic | 19 | 13008552 | 13008552 | A | G | criteria provided, single submitter | - |
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.751C>T (p.Gln251Ter) | GCDH | Pathogenic | 19 | 13007134 | 13007134 | C | T | criteria provided, single submitter | - |
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.1054C>T (p.Gln352Ter) | GCDH | Pathogenic | 19 | 13008214 | 13008214 | C | T | criteria provided, single submitter | - |