single nucleotide variant | NM_000187.4(HGD):c.3G>C (p.Met1Ile) | HGD | Pathogenic/Likely pathogenic | 3 | 120400956 | 120400956 | C | G | criteria provided, multiple submitters, no conflicts | ClinGen:CA16040901 |
single nucleotide variant | NM_000187.4(HGD):c.158G>A (p.Arg53Gln) | HGD | Pathogenic/Likely pathogenic | 3 | 120393766 | 120393766 | C | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA2560335 |
single nucleotide variant | NM_000187.4(HGD):c.179G>A (p.Trp60Ter) | HGD | Pathogenic/Likely pathogenic | 3 | 120389377 | 120389377 | C | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA16040896 |
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 |
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.1201G>C (p.Glu401Gln) | HGD | Pathogenic/Likely pathogenic | 3 | 120347364 | 120347364 | C | G | criteria provided, multiple submitters, no conflicts | ClinGen:CA2559930 |
single nucleotide variant | NM_000187.4(HGD):c.11T>A (p.Leu4Ter) | HGD | Pathogenic/Likely pathogenic | 3 | 120400948 | 120400948 | A | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA277982 |
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 |
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 |
Deletion | NM_000187.4(HGD):c.652del | HGD | Pathogenic/Likely pathogenic | 3 | 120363288 | 120363288 | GC | G | criteria provided, multiple submitters, no conflicts | ClinGen:CA277987 |