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 |
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 |
single nucleotide variant | NM_000187.4(HGD):c.688C>T (p.Pro230Ser) | HGD | Pathogenic | 3 | 120363252 | 120363252 | G | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA340042,UniProtKB:Q93099#VAR_005283,OMIM:607474.0001 |
single nucleotide variant | NM_000187.4(HGD):c.879+1G>A | HGD | Likely pathogenic | 3 | 120360435 | 120360435 | C | T | criteria provided, single submitter | - |
single nucleotide variant | NM_000187.4(HGD):c.15+1G>A | HGD | Likely pathogenic | 3 | 120400943 | 120400943 | C | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA16040900 |
Indel | NM_000187.4(HGD):c.31_32delinsATT (p.Gly11fs) | HGD | Likely pathogenic | 3 | 120394694 | 120394695 | CC | AAT | criteria provided, single submitter | ClinGen:CA16040899 |
Deletion | NM_000187.4(HGD):c.58del (p.Arg20fs) | HGD | Likely pathogenic | 3 | 120394668 | 120394668 | CG | C | criteria provided, single submitter | ClinGen:CA16040898 |