Deletion | NC_000004.12:g.(?_3473386)_(3489816_?)del | DOK7 | Pathogenic | 4 | 3475113 | 3491543 | na | na | criteria provided, single submitter | - |
single nucleotide variant | NM_173660.5(DOK7):c.331+1G>T | DOK7 | Pathogenic | 4 | 3475364 | 3475364 | G | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA356113804,OMIM:610285.0009 |
single nucleotide variant | NM_173660.5(DOK7):c.437C>T (p.Pro146Leu) | DOK7 | Pathogenic | 4 | 3478174 | 3478174 | C | T | criteria provided, multiple submitters, no conflicts | - |
single nucleotide variant | NM_173660.5(DOK7):c.513C>T (p.Gly171=) | DOK7 | Pathogenic/Likely pathogenic | 4 | 3478250 | 3478250 | C | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA2829017 |
single nucleotide variant | NM_173660.5(DOK7):c.514G>A (p.Gly172Arg) | DOK7 | Pathogenic/Likely pathogenic | 4 | 3478251 | 3478251 | G | A | criteria provided, multiple submitters, no conflicts | - |
Deletion | NC_000004.12:g.(?_3485519)_(3493521_?)del | DOK7 | Pathogenic | 4 | 3487246 | 3495248 | na | na | criteria provided, single submitter | - |
Deletion | NC_000004.12:g.(?_3485529)_(3493511_?)del | DOK7 | Pathogenic | 4 | 3487256 | 3495238 | na | na | criteria provided, single submitter | - |
single nucleotide variant | NM_173660.5(DOK7):c.539G>C (p.Gly180Ala) | DOK7 | Likely pathogenic | 4 | 3487272 | 3487272 | G | C | criteria provided, single submitter | ClinGen:CA251738,UniProtKB:Q18PE1#VAR_027544,OMIM:610285.0006 |
Deletion | NM_173660.5(DOK7):c.596del (p.Ile199fs) | DOK7 | Pathogenic/Likely pathogenic | 4 | 3487329 | 3487329 | AT | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA277304 |
single nucleotide variant | NM_173660.5(DOK7):c.601C>T (p.Arg201Ter) | DOK7 | Pathogenic | 4 | 3487334 | 3487334 | C | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA251739,OMIM:610285.0007 |