single nucleotide variant | NM_001114753.3(ENG):c.219+1G>A | ENG | Pathogenic | 9 | 130605372 | 130605372 | C | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA374988833 |
single nucleotide variant | NM_001114753.3(ENG):c.219G>A (p.Thr73=) | ENG | Pathogenic/Likely pathogenic | 9 | 130605373 | 130605373 | C | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA5253209 |
single nucleotide variant | NM_001114753.3(ENG):c.166C>T (p.Gln56Ter) | ENG | Pathogenic | 9 | 130605426 | 130605426 | G | A | criteria provided, multiple submitters, no conflicts | - |
single nucleotide variant | NM_001114753.3(ENG):c.155G>A (p.Gly52Asp) | ENG | Pathogenic/Likely pathogenic | 9 | 130605437 | 130605437 | C | T | criteria provided, multiple submitters, no conflicts | - |
single nucleotide variant | NM_001114753.3(ENG):c.145G>T (p.Val49Phe) | ENG | Pathogenic | 9 | 130605447 | 130605447 | C | A | criteria provided, multiple submitters, no conflicts | - |
Deletion | NM_001114753.3(ENG):c.119del (p.Gly40fs) | ENG | Pathogenic | 9 | 130605473 | 130605473 | GC | G | criteria provided, single submitter | - |
Deletion | NM_001114753.3(ENG):c.98_101del (p.Gln33fs) | ENG | Pathogenic | 9 | 130605491 | 130605494 | AGGCT | A | criteria provided, single submitter | ClinGen:CA658656053 |
single nucleotide variant | NM_001114753.3(ENG):c.97C>T (p.Gln33Ter) | ENG | Pathogenic | 9 | 130605495 | 130605495 | G | A | criteria provided, single submitter | - |
Duplication | NC_000009.11:g.(?_130605373)_(130605524_?)dup | ENG | Likely pathogenic | 9 | 130605373 | 130605524 | na | na | criteria provided, single submitter | - |
Deletion | NC_000009.12:g.(?_127843094)_(127843245_?)del | ENG | Pathogenic | 9 | 130605373 | 130605524 | na | na | criteria provided, single submitter | - |