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 |
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 |
Deletion | NM_000187.4(HGD):c.409del (p.Leu137fs) | HGD | Likely pathogenic | 3 | 120369646 | 120369646 | AG | A | criteria provided, single submitter | ClinGen:CA16040891 |
Deletion | NM_000187.4(HGD):c.390del (p.Ala132fs) | HGD | Likely pathogenic | 3 | 120369665 | 120369665 | GC | G | criteria provided, single submitter | ClinGen:CA16040892 |
Deletion | NM_000187.4(HGD):c.376_377del (p.Lys126fs) | HGD | Likely pathogenic | 3 | 120369678 | 120369679 | CTT | C | criteria provided, single submitter | ClinGen:CA16040893 |
single nucleotide variant | NM_000187.4(HGD):c.365C>T (p.Ala122Val) | HGD | Pathogenic/Likely pathogenic | 3 | 120369690 | 120369690 | G | A | criteria provided, multiple submitters, no conflicts | UniProtKB:Q93099#VAR_073090,ClinGen:CA277986 |
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 |
Deletion | NM_000187.4(HGD):c.346del (p.Leu116fs) | HGD | Likely pathogenic | 3 | 120369709 | 120369709 | AG | A | criteria provided, single submitter | ClinGen:CA16040894 |
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 |
single nucleotide variant | NM_000187.4(HGD):c.342+1G>T | HGD | Pathogenic/Likely pathogenic | 3 | 120371438 | 120371438 | C | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA277988 |