single nucleotide variant | NM_172250.3(MMAA):c.562+1G>A | MMAA | Likely pathogenic | 4 | 146563638 | 146563638 | G | A | criteria provided, single submitter | ClinGen:CA358780 |
Duplication | NM_172250.3(MMAA):c.551dup (p.Cys184fs) | MMAA | Pathogenic | 4 | 146563625 | 146563626 | T | TG | criteria provided, multiple submitters, no conflicts | - |
Deletion | NM_172250.3(MMAA):c.503del (p.Thr168fs) | MMAA | Pathogenic | 4 | 146563578 | 146563578 | AC | A | criteria provided, single submitter | ClinGen:CA347897 |
Deletion | NM_172250.3(MMAA):c.489del (p.Phe163fs) | MMAA | Pathogenic | 4 | 146563561 | 146563561 | AT | A | criteria provided, single submitter | ClinGen:CA658657402 |
Deletion | NM_172250.3(MMAA):c.455del (p.Pro152fs) | MMAA | Pathogenic | 4 | 146563526 | 146563526 | GC | G | criteria provided, single submitter | ClinGen:CA441476414 |
Duplication | NM_172250.3(MMAA):c.450dup (p.Pro151fs) | MMAA | Pathogenic | 4 | 146563522 | 146563523 | T | TG | criteria provided, multiple submitters, no conflicts | - |
Duplication | NM_172250.3(MMAA):c.441dup (p.Leu148fs) | MMAA | Pathogenic | 4 | 146563515 | 146563516 | G | GA | criteria provided, single submitter | ClinGen:CA645509151 |
single nucleotide variant | NM_172250.3(MMAA):c.439+1G>A | MMAA | Likely pathogenic | 4 | 146560731 | 146560731 | G | A | criteria provided, single submitter | - |
single nucleotide variant | NM_172250.3(MMAA):c.433C>T (p.Arg145Ter) | MMAA | Pathogenic/Likely pathogenic | 4 | 146560724 | 146560724 | C | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA312705,OMIM:607481.0005 |
Deletion | NM_172250.3(MMAA):c.411_414del (p.Asn137fs) | MMAA | Pathogenic/Likely pathogenic | 4 | 146560699 | 146560702 | CAAAT | C | criteria provided, multiple submitters, no conflicts | - |