single nucleotide variant | NM_001114753.3(ENG):c.-127C>T | ENG | Pathogenic/Likely pathogenic | 9 | 130616761 | 130616761 | G | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA16612603 |
single nucleotide variant | NM_001114753.3(ENG):c.1A>C (p.Met1Leu) | ENG | Pathogenic | 9 | 130616634 | 130616634 | T | G | criteria provided, single submitter | - |
single nucleotide variant | NM_001114753.3(ENG):c.1A>G (p.Met1Val) | ENG | Pathogenic | 9 | 130616634 | 130616634 | T | C | criteria provided, multiple submitters, no conflicts | ClinGen:CA16612719 |
single nucleotide variant | NM_001114753.3(ENG):c.2T>G (p.Met1Arg) | ENG | Pathogenic | 9 | 130616633 | 130616633 | A | C | criteria provided, multiple submitters, no conflicts | ClinGen:CA374989708 |
single nucleotide variant | NM_001114753.3(ENG):c.2T>C (p.Met1Thr) | ENG | Pathogenic | 9 | 130616633 | 130616633 | A | G | criteria provided, single submitter | ClinGen:CA257569,OMIM:131195.0006 |
Deletion | NM_001114753.3(ENG):c.-8_8del (p.Met1fs) | ENG | Pathogenic | 9 | 130616627 | 130616642 | GCGGTCCATGCTGTCCA | G | criteria provided, single submitter | - |
single nucleotide variant | NM_001114753.3(ENG):c.23T>C (p.Leu8Pro) | ENG | Pathogenic | 9 | 130616612 | 130616612 | A | G | criteria provided, multiple submitters, no conflicts | - |
single nucleotide variant | NM_001114753.3(ENG):c.41T>C (p.Leu14Pro) | ENG | Pathogenic/Likely pathogenic | 9 | 130616594 | 130616594 | A | G | criteria provided, multiple submitters, no conflicts | ClinGen:CA374989588 |
Deletion | NM_001114753.3(ENG):c.41_51del (p.Leu14fs) | ENG | Pathogenic | 9 | 130616584 | 130616594 | TGCAGCTGGCCA | T | criteria provided, single submitter | - |
Deletion | NM_001114753.3(ENG):c.67del (p.Ser23fs) | ENG | Pathogenic | 9 | 130616568 | 130616568 | CT | C | criteria provided, single submitter | ClinGen:CA10582617 |