Deletion | NM_001114753.3(ENG):c.1080_1083del (p.Thr361fs) | ENG | Pathogenic | 9 | 130586634 | 130586637 | TTGTC | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA324999 |
single nucleotide variant | NM_001114753.3(ENG):c.689+2T>C | ENG | Pathogenic | 9 | 130587972 | 130587972 | A | G | criteria provided, single submitter | ClinGen:CA324588 |
single nucleotide variant | NM_001114753.3(ENG):c.562C>T (p.Gln188Ter) | ENG | Pathogenic | 9 | 130588101 | 130588101 | G | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA324406 |
single nucleotide variant | NM_001114753.3(ENG):c.446G>A (p.Trp149Ter) | ENG | Pathogenic | 9 | 130588866 | 130588866 | C | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA320116 |
single nucleotide variant | NM_001114753.3(ENG):c.247C>T (p.Gln83Ter) | ENG | Pathogenic | 9 | 130592079 | 130592079 | G | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA322606 |
single nucleotide variant | NM_001114753.3(ENG):c.447G>C (p.Trp149Cys) | ENG | Pathogenic | 9 | 130588865 | 130588865 | C | G | criteria provided, multiple submitters, no conflicts | ClinGen:CA10582615,UniProtKB:P17813#VAR_005195 |
single nucleotide variant | NM_001114753.3(ENG):c.68-1G>A | ENG | Pathogenic/Likely pathogenic | 9 | 130605525 | 130605525 | C | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA10582616 |
Deletion | NM_001114753.3(ENG):c.67del (p.Ser23fs) | ENG | Pathogenic | 9 | 130616568 | 130616568 | CT | C | criteria provided, single submitter | ClinGen:CA10582617 |
single nucleotide variant | NM_001114753.3(ENG):c.360+1G>A | ENG | Pathogenic | 9 | 130591965 | 130591965 | C | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA10588467,OMIM:131195.0005 |
single nucleotide variant | NM_001114753.3(ENG):c.277C>T (p.Arg93Ter) | ENG | Pathogenic | 9 | 130592049 | 130592049 | G | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA10588468 |