single nucleotide variant | NM_000159.4(GCDH):c.1156C>T (p.Arg386Ter) | GCDH | Pathogenic | 19 | 13008590 | 13008590 | C | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA9234621 |
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.1118A>G (p.Asn373Ser) | GCDH | Likely pathogenic | 19 | 13008552 | 13008552 | A | G | criteria provided, single submitter | - |
single nucleotide variant | NM_000159.4(GCDH):c.1093G>A (p.Glu365Lys) | GCDH | Pathogenic | 19 | 13008527 | 13008527 | G | A | criteria provided, multiple submitters, no conflicts | UniProtKB:Q92947#VAR_000402,OMIM:608801.0005,ClinGen:CA252098 |
single nucleotide variant | NM_000159.4(GCDH):c.1082+1G>T | GCDH | Likely pathogenic | 19 | 13008243 | 13008243 | G | T | criteria provided, single submitter | - |
single nucleotide variant | NM_000159.4(GCDH):c.1064G>A (p.Arg355His) | GCDH | Pathogenic | 19 | 13008224 | 13008224 | G | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA9234590 |
single nucleotide variant | NM_000159.4(GCDH):c.1063C>T (p.Arg355Cys) | GCDH | Pathogenic/Likely pathogenic | 19 | 13008223 | 13008223 | C | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA9234589 |
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.1054C>T (p.Gln352Ter) | GCDH | Pathogenic | 19 | 13008214 | 13008214 | C | T | criteria provided, single submitter | - |
single nucleotide variant | NM_000159.4(GCDH):c.1031C>T (p.Thr344Ile) | GCDH | Pathogenic | 19 | 13008191 | 13008191 | C | T | criteria provided, single submitter | ClinGen:CA351605 |