single nucleotide variant | NM_000159.4(GCDH):c.1168G>C (p.Gly390Arg) | GCDH | Pathogenic/Likely pathogenic | 19 | 13008602 | 13008602 | G | C | criteria provided, multiple submitters, no conflicts | ClinGen:CA274950,UniProtKB:Q92947#VAR_000408 |
single nucleotide variant | NM_000159.4(GCDH):c.675G>A (p.Trp225Ter) | GCDH | Pathogenic/Likely pathogenic | 19 | 13007058 | 13007058 | G | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA274778 |
single nucleotide variant | NM_000159.4(GCDH):c.1239C>A (p.Tyr413Ter) | GCDH | Pathogenic/Likely pathogenic | 19 | 13008673 | 13008673 | C | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA274339 |
single nucleotide variant | NM_000159.4(GCDH):c.1205G>A (p.Arg402Gln) | GCDH | Pathogenic/Likely pathogenic | 19 | 13008639 | 13008639 | G | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA274253,UniProtKB:Q92947#VAR_000413 |
single nucleotide variant | NM_000159.4(GCDH):c.1147C>T (p.Arg383Cys) | GCDH | Pathogenic/Likely pathogenic | 19 | 13008581 | 13008581 | C | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA274040,UniProtKB:Q92947#VAR_000405 |
single nucleotide variant | NM_000159.4(GCDH):c.1060G>A (p.Gly354Ser) | GCDH | Pathogenic/Likely pathogenic | 19 | 13008220 | 13008220 | G | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA274169,UniProtKB:Q92947#VAR_000399 |
single nucleotide variant | NM_000159.4(GCDH):c.769C>T (p.Arg257Trp) | GCDH | Pathogenic/Likely pathogenic | 19 | 13007152 | 13007152 | C | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA274064,UniProtKB:Q92947#VAR_000383 |
single nucleotide variant | NM_000159.4(GCDH):c.533G>A (p.Gly178Glu) | GCDH | Pathogenic/Likely pathogenic | 19 | 13006833 | 13006833 | G | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA274254 |
single nucleotide variant | NM_000159.4(GCDH):c.482G>A (p.Arg161Gln) | GCDH | Pathogenic/Likely pathogenic | 19 | 13004444 | 13004444 | G | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA273961,UniProtKB:Q92947#VAR_000375 |
single nucleotide variant | NM_000159.4(GCDH):c.383G>A (p.Arg128Gln) | GCDH | Pathogenic/Likely pathogenic | 19 | 13004345 | 13004345 | G | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA274331 |