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.649+2T>C | HGD | Likely pathogenic | 3 | 120365112 | 120365112 | A | G | criteria provided, single submitter | ClinGen:CA16040890 |
Deletion | NM_000187.3(HGD):c.651_652delGG | HGD | Pathogenic | 3 | 120363288 | 120363289 | GCC | G | criteria provided, single submitter | - |
Deletion | NM_000187.4(HGD):c.652del | HGD | Pathogenic/Likely pathogenic | 3 | 120363288 | 120363288 | GC | G | criteria provided, multiple submitters, no conflicts | ClinGen:CA277987 |
single nucleotide variant | NM_000187.4(HGD):c.674G>A (p.Arg225His) | HGD | Pathogenic/Likely pathogenic | 3 | 120363266 | 120363266 | C | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA277989,UniProtKB:Q93099#VAR_005281 |
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 |
Duplication | NM_000187.4(HGD):c.781dup (p.Ser261fs) | HGD | Likely pathogenic | 3 | 120360533 | 120360534 | G | GA | criteria provided, single submitter | ClinGen:CA16040889 |
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.879+1G>A | HGD | Likely pathogenic | 3 | 120360435 | 120360435 | C | T | criteria provided, single submitter | - |