Deletion | NC_000014.9:g.(?_54865317)_(54865446_?)del | GCH1 | Pathogenic | 14 | 55332035 | 55332164 | na | na | criteria provided, single submitter | - |
Deletion | NC_000014.9:g.(?_54865307)_(54865456_?)del | GCH1 | Pathogenic | 14 | 55332025 | 55332174 | na | na | criteria provided, single submitter | - |
Indel | NM_000161.3(GCH1):c.509+1_509+3delinsTGTGAG | GCH1 | Pathogenic | 14 | 55326396 | 55326398 | TAC | CTCACA | criteria provided, single submitter | - |
single nucleotide variant | NM_000161.3(GCH1):c.510-1G>C | GCH1 | Pathogenic | 14 | 55313849 | 55313849 | C | G | criteria provided, single submitter | ClinGen:CA389787519 |
single nucleotide variant | NM_000161.3(GCH1):c.510-1G>A | GCH1 | Pathogenic | 14 | 55313849 | 55313849 | C | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA389787520 |
single nucleotide variant | NM_000161.3(GCH1):c.532A>T (p.Arg178Ter) | GCH1 | Pathogenic | 14 | 55313826 | 55313826 | T | A | criteria provided, single submitter | - |
single nucleotide variant | NM_000161.3(GCH1):c.541+1G>T | GCH1 | Pathogenic | 14 | 55313816 | 55313816 | C | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA389787439 |
single nucleotide variant | NM_000161.3(GCH1):c.541+1G>C | GCH1 | Pathogenic | 14 | 55313816 | 55313816 | C | G | criteria provided, single submitter | ClinGen:CA389787441 |
single nucleotide variant | NM_000161.3(GCH1):c.551G>A (p.Arg184His) | GCH1 | Pathogenic | 14 | 55312561 | 55312561 | C | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA120283,UniProtKB:P30793#VAR_002643,OMIM:600225.0020 |
single nucleotide variant | NM_000161.3(GCH1):c.607G>A (p.Gly203Arg) | GCH1 | Pathogenic | 14 | 55312505 | 55312505 | C | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA16606864 |