single nucleotide variant | NM_000187.4(HGD):c.1201G>C (p.Glu401Gln) | HGD | Pathogenic/Likely pathogenic | 3 | 120347364 | 120347364 | C | G | criteria provided, multiple submitters, no conflicts | ClinGen:CA2559930 |
Deletion | NC_000003.12:g.(?_120633127)_(120633348_?)del | HGD | Pathogenic | 3 | 120351974 | 120352195 | na | na | criteria provided, single submitter | - |
single nucleotide variant | NM_000187.4(HGD):c.1188+1G>T | HGD | Pathogenic/Likely pathogenic | 3 | 120351993 | 120351993 | C | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA2559950 |
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 |
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.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.1078G>C (p.Gly360Arg) | HGD | Pathogenic | 3 | 120352104 | 120352104 | C | G | criteria provided, multiple submitters, no conflicts | - |
Duplication | NM_000187.4(HGD):c.1064dup (p.Gly356fs) | HGD | Likely pathogenic | 3 | 120352117 | 120352118 | A | AC | criteria provided, single submitter | ClinGen:CA16040885 |
Indel | NM_000187.4(HGD):c.1017_1019delinsTA (p.Met339fs) | HGD | Pathogenic | 3 | 120352163 | 120352165 | CTC | TA | criteria provided, multiple submitters, no conflicts | ClinGen:CA16040886 |
Duplication | NM_000187.4(HGD):c.970dup (p.Val324fs) | HGD | Pathogenic/Likely pathogenic | 3 | 120357337 | 120357338 | A | AC | criteria provided, multiple submitters, no conflicts | ClinGen:CA16040887 |