Deletion | NC_000014.9:g.(?_54902301)_(54902683_?)del | GCH1 | Pathogenic | 14 | 55369019 | 55369401 | na | na | criteria provided, single submitter | - |
single nucleotide variant | NM_000161.3(GCH1):c.1A>G (p.Met1Val) | GCH1 | Pathogenic | 14 | 55369381 | 55369381 | T | C | criteria provided, multiple submitters, no conflicts | - |
single nucleotide variant | NM_000161.3(GCH1):c.1A>T (p.Met1Leu) | GCH1 | Pathogenic | 14 | 55369381 | 55369381 | T | A | criteria provided, single submitter | ClinGen:CA389795046 |
Deletion | NM_000161.3(GCH1):c.13_19del (p.Pro5fs) | GCH1 | Likely pathogenic | 14 | 55369363 | 55369369 | CGCACAGG | C | criteria provided, single submitter | ClinGen:CA658658257 |
Deletion | NM_000161.3(GCH1):c.76del (p.Asp26fs) | GCH1 | Pathogenic | 14 | 55369306 | 55369306 | TC | T | criteria provided, single submitter | - |
Duplication | NM_000161.3(GCH1):c.127_130dup (p.Ala44fs) | GCH1 | Pathogenic | 14 | 55369251 | 55369252 | G | GCCTC | criteria provided, single submitter | - |
single nucleotide variant | NM_000161.3(GCH1):c.142C>T (p.Gln48Ter) | GCH1 | Pathogenic | 14 | 55369240 | 55369240 | G | A | criteria provided, single submitter | ClinGen:CA254727,OMIM:600225.0018 |
single nucleotide variant | NM_000161.3(GCH1):c.159G>A (p.Trp53Ter) | GCH1 | Pathogenic | 14 | 55369223 | 55369223 | C | T | criteria provided, single submitter | ClinGen:CA10603246 |
Indel | NM_000161.3(GCH1):c.186_197delinsA (p.Asp63fs) | GCH1 | Pathogenic | 14 | 55369185 | 55369196 | AGCTCGTTATCC | T | criteria provided, single submitter | ClinGen:CA658798217 |
single nucleotide variant | NM_000161.3(GCH1):c.212T>C (p.Leu71Pro) | GCH1 | Likely pathogenic | 14 | 55369170 | 55369170 | A | G | criteria provided, single submitter | - |