single nucleotide variant | NM_000159.4(GCDH):c.1A>C (p.Met1Leu) | GCDH | Likely pathogenic | 19 | 13002119 | 13002119 | A | C | criteria provided, multiple submitters, no conflicts | - |
single nucleotide variant | NM_000159.4(GCDH):c.3G>A (p.Met1Ile) | GCDH | Likely pathogenic | 19 | 13002121 | 13002121 | G | A | criteria provided, single submitter | - |
Deletion | NM_000159.4(GCDH):c.79del (p.Ala27fs) | GCDH | Pathogenic/Likely pathogenic | 19 | 13002196 | 13002196 | CG | C | criteria provided, multiple submitters, no conflicts | ClinGen:CA16041961 |
Deletion | NM_000159.4(GCDH):c.80_81del (p.Ala27fs) | GCDH | Likely pathogenic | 19 | 13002197 | 13002198 | GGC | G | criteria provided, single submitter | ClinGen:CA16041962 |
single nucleotide variant | NM_000159.4(GCDH):c.172G>T (p.Glu58Ter) | GCDH | Pathogenic/Likely pathogenic | 19 | 13002689 | 13002689 | G | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA16041963 |
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 | - |
Deletion | NM_000159.4(GCDH):c.198del (p.Ile67fs) | GCDH | Pathogenic/Likely pathogenic | 19 | 13002715 | 13002715 | TC | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA16041964 |
Deletion | NM_000159.4(GCDH):c.219del (p.Tyr74fs) | GCDH | Pathogenic/Likely pathogenic | 19 | 13002735 | 13002735 | AC | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA16041965 |
single nucleotide variant | NM_000159.4(GCDH):c.226C>T (p.Gln76Ter) | GCDH | Pathogenic/Likely pathogenic | 19 | 13002743 | 13002743 | C | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA16041966 |
single nucleotide variant | NM_000159.4(GCDH):c.262C>T (p.Arg88Cys) | GCDH | Pathogenic | 19 | 13002779 | 13002779 | C | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA274425,UniProtKB:Q92947#VAR_000366 |