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.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.15+1G>A | HGD | Likely pathogenic | 3 | 120400943 | 120400943 | C | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA16040900 |
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 |
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 |
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 |
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.177-1G>A | HGD | Likely pathogenic | 3 | 120389380 | 120389380 | C | T | criteria provided, single submitter | ClinGen:CA16040897 |
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 |