Duplication | NM_172250.3(MMAA):c.812_813dup (p.Leu272fs) | MMAA | Likely pathogenic | 4 | 146572290 | 146572291 | T | TGA | criteria provided, single submitter | - |
single nucleotide variant | NM_172250.3(MMAA):c.952C>T (p.Gln318Ter) | MMAA | Likely pathogenic | 4 | 146575278 | 146575278 | C | T | criteria provided, single submitter | - |
single nucleotide variant | NM_172250.3(MMAA):c.124C>T (p.Gln42Ter) | MMAA | Pathogenic/Likely pathogenic | 4 | 146560415 | 146560415 | C | T | criteria provided, multiple submitters, no conflicts | - |
Deletion | NM_172250.3(MMAA):c.206del (p.Thr69fs) | MMAA | Likely pathogenic | 4 | 146560497 | 146560497 | AC | A | criteria provided, single submitter | - |
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 | - |
Duplication | NM_172250.3(MMAA):c.551dup (p.Cys184fs) | MMAA | Pathogenic | 4 | 146563625 | 146563626 | T | TG | criteria provided, multiple submitters, no conflicts | - |
single nucleotide variant | NM_172250.3(MMAA):c.562+1G>T | MMAA | Likely pathogenic | 4 | 146563638 | 146563638 | G | T | criteria provided, single submitter | - |
single nucleotide variant | NM_172250.3(MMAA):c.970-2A>T | MMAA | Pathogenic | 4 | 146576297 | 146576297 | A | T | criteria provided, single submitter | - |
single nucleotide variant | NM_000255.4(MMUT):c.1957-2A>G | MMUT | Pathogenic | 6 | 49403338 | 49403338 | T | C | criteria provided, multiple submitters, no conflicts | - |
single nucleotide variant | NM_000255.4(MMUT):c.1867G>C (p.Gly623Arg) | MMUT | Likely pathogenic | 6 | 49408008 | 49408008 | C | G | criteria provided, single submitter | - |