single nucleotide variant | NM_000187.4(HGD):c.360T>G (p.Cys120Trp) | HGD | Pathogenic | 3 | 120369695 | 120369695 | A | C | criteria provided, multiple submitters, no conflicts | ClinGen:CA344906,UniProtKB:Q93099#VAR_073089 |
single nucleotide variant | NM_000187.4(HGD):c.342+1G>A | HGD | Likely pathogenic | 3 | 120371438 | 120371438 | C | T | criteria provided, single submitter | ClinGen:CA344905 |
Duplication | NM_000187.4(HGD):c.1111dup (p.His371fs) | HGD | Pathogenic | 3 | 120352070 | 120352071 | T | TG | criteria provided, multiple submitters, no conflicts | ClinGen:CA344902 |
single nucleotide variant | NM_000187.4(HGD):c.808G>A (p.Gly270Arg) | HGD | Pathogenic/Likely pathogenic | 3 | 120360507 | 120360507 | C | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA340049,UniProtKB:Q93099#VAR_009620,OMIM:607474.0011 |
single nucleotide variant | NM_000187.4(HGD):c.1102A>G (p.Met368Val) | HGD | Pathogenic | 3 | 120352080 | 120352080 | T | C | criteria provided, multiple submitters, no conflicts | ClinGen:CA340048,UniProtKB:Q93099#VAR_005287,OMIM:607474.0009 |
single nucleotide variant | NM_000187.4(HGD):c.1112A>G (p.His371Arg) | HGD | Likely pathogenic | 3 | 120352070 | 120352070 | T | C | criteria provided, single submitter | ClinGen:CA277917,UniProtKB:Q93099#VAR_008745,OMIM:607474.0008 |
Deletion | NM_000187.4(HGD):c.175del (p.Ser59fs) | HGD | Pathogenic | 3 | 120393749 | 120393749 | CT | C | criteria provided, multiple submitters, no conflicts | ClinGen:CA340047,OMIM:607474.0006 |
single nucleotide variant | NM_000187.4(HGD):c.16-1G>A | HGD | Pathogenic | 3 | 120394711 | 120394711 | C | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA340046,OMIM:607474.0005 |
Duplication | NM_000187.4(HGD):c.457dup (p.Asp153fs) | HGD | Pathogenic | 3 | 120366735 | 120366736 | T | TC | criteria provided, multiple submitters, no conflicts | ClinGen:CA340045,OMIM:607474.0004,OMIM:607474.0010 |
single nucleotide variant | NM_000187.4(HGD):c.481G>A (p.Gly161Arg) | HGD | Pathogenic | 3 | 120365888 | 120365888 | C | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA340044,UniProtKB:Q93099#VAR_005278,OMIM:607474.0003 |