Deletion | NM_001114753.3(ENG):c.1554_1555del (p.Leu519fs) | ENG | Pathogenic | 9 | 130580530 | 130580531 | AGG | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA10603021 |
single nucleotide variant | NM_001114753.3(ENG):c.816G>A (p.Trp272Ter) | ENG | Pathogenic | 9 | 130587510 | 130587510 | C | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA10603083 |
Deletion | NM_001114753.3(ENG):c.712del (p.Val238fs) | ENG | Pathogenic | 9 | 130587614 | 130587614 | AC | A | criteria provided, single submitter | ClinGen:CA10603150 |
Deletion | NM_001114753.3(ENG):c.880_881del (p.Asp294fs) | ENG | Pathogenic | 9 | 130587189 | 130587190 | GTC | G | criteria provided, multiple submitters, no conflicts | ClinGen:CA10604865 |
single nucleotide variant | NM_001114753.3(ENG):c.1465C>T (p.Gln489Ter) | ENG | Pathogenic/Likely pathogenic | 9 | 130580620 | 130580620 | G | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA16606222 |
Duplication | NC_000009.11:g.(?_130605373)_(130605524_?)dup | ENG | Likely pathogenic | 9 | 130605373 | 130605524 | na | na | criteria provided, single submitter | - |
single nucleotide variant | NM_001114753.3(ENG):c.1646G>A (p.Cys549Tyr) | ENG | Pathogenic | 9 | 130580439 | 130580439 | C | T | criteria provided, single submitter | ClinGen:CA500023 |
Deletion | NM_001114753.3(ENG):c.1327del (p.Leu443fs) | ENG | Pathogenic | 9 | 130581096 | 130581096 | AG | A | criteria provided, single submitter | ClinGen:CA16612404 |
Deletion | NM_001114753.3(ENG):c.1199del (p.Gly400fs) | ENG | Pathogenic | 9 | 130582252 | 130582252 | AC | A | criteria provided, single submitter | ClinGen:CA16612406 |
single nucleotide variant | NM_001114753.3(ENG):c.904G>T (p.Glu302Ter) | ENG | Pathogenic | 9 | 130587166 | 130587166 | C | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA16612407 |