single nucleotide variant | NM_172250.3(MMAA):c.721A>T (p.Ile241Phe) | MMAA | Pathogenic | 4 | 146567296 | 146567296 | A | T | criteria provided, single submitter | ClinGen:CA358356365 |
single nucleotide variant | NM_172250.3(MMAA):c.658G>A (p.Val220Met) | MMAA | Pathogenic/Likely pathogenic | 4 | 146567233 | 146567233 | G | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA3095228 |
single nucleotide variant | NM_172250.3(MMAA):c.653G>A (p.Gly218Glu) | MMAA | Likely pathogenic | 4 | 146567228 | 146567228 | G | A | criteria provided, single submitter | ClinGen:CA347896,UniProtKB:Q8IVH4#VAR_020837 |
Duplication | NM_172250.3(MMAA):c.651dup (p.Gly218fs) | MMAA | Pathogenic | 4 | 146567225 | 146567226 | T | TA | criteria provided, multiple submitters, no conflicts | ClinGen:CA645509153 |
single nucleotide variant | NM_172250.3(MMAA):c.650T>A (p.Leu217Ter) | MMAA | Pathogenic/Likely pathogenic | 4 | 146567225 | 146567225 | T | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA347870 |
Duplication | NM_172250.3(MMAA):c.594dup (p.Glu199Ter) | MMAA | Likely pathogenic | 4 | 146567168 | 146567169 | C | CT | criteria provided, single submitter | - |
Deletion | NM_172250.3(MMAA):c.593_596del (p.Thr198fs) | MMAA | Pathogenic | 4 | 146567165 | 146567168 | ATGAC | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA312707,OMIM:607481.0001 |
single nucleotide variant | NM_172250.3(MMAA):c.586C>T (p.Arg196Ter) | MMAA | Pathogenic | 4 | 146567161 | 146567161 | C | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA107725374 |
single nucleotide variant | NM_172250.3(MMAA):c.575G>A (p.Gly192Asp) | MMAA | Pathogenic | 4 | 146567150 | 146567150 | G | A | criteria provided, single submitter | ClinGen:CA358355558 |
single nucleotide variant | NM_172250.3(MMAA):c.562+1G>T | MMAA | Likely pathogenic | 4 | 146563638 | 146563638 | G | T | criteria provided, single submitter | - |