single nucleotide variant | NM_000161.3(GCH1):c.752G>C (p.Ter251Ser) | GCH1 | Pathogenic | 14 | 55310736 | 55310736 | C | G | criteria provided, single submitter | ClinGen:CA389786574 |
single nucleotide variant | NM_000161.3(GCH1):c.655C>T (p.Gln219Ter) | GCH1 | Likely pathogenic | 14 | 55310833 | 55310833 | G | A | criteria provided, single submitter | ClinGen:CA389787183 |
Deletion | NM_000161.3(GCH1):c.631_632del (p.Met211fs) | GCH1 | Pathogenic | 14 | 55310856 | 55310857 | CAT | C | criteria provided, multiple submitters, no conflicts | ClinGen:CA10588575 |
single nucleotide variant | NM_000161.3(GCH1):c.632T>C (p.Met211Thr) | GCH1 | Likely pathogenic | 14 | 55310856 | 55310856 | A | G | criteria provided, single submitter | - |
single nucleotide variant | NM_000161.3(GCH1):c.626+1G>T | GCH1 | Pathogenic | 14 | 55312485 | 55312485 | C | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA389787259 |
single nucleotide variant | NM_000161.3(GCH1):c.626+1G>A | GCH1 | Pathogenic/Likely pathogenic | 14 | 55312485 | 55312485 | C | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA389787258,OMIM:600225.0019 |
single nucleotide variant | NM_000161.3(GCH1):c.614T>A (p.Val205Glu) | GCH1 | Pathogenic/Likely pathogenic | 14 | 55312498 | 55312498 | A | T | criteria provided, multiple submitters, no conflicts | - |
Deletion | NM_000161.3(GCH1):c.610del (p.Gly203_Val204insTer) | GCH1 | Likely pathogenic | 14 | 55312502 | 55312502 | AC | A | criteria provided, single submitter | ClinGen:CA10588576 |
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 |
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 |