single nucleotide variant | NM_015702.3(MMADHC):c.154+1G>A | MMADHC | Pathogenic/Likely pathogenic | 2 | 150438640 | 150438640 | C | T | criteria provided, multiple submitters, no conflicts | - |
single nucleotide variant | NM_000255.4(MMUT):c.947A>G (p.Tyr316Cys) | MMUT | Pathogenic/Likely pathogenic | 6 | 49421434 | 49421434 | T | C | criteria provided, multiple submitters, no conflicts | - |
single nucleotide variant | NM_000255.4(MMUT):c.753+1G>A | MMUT | Pathogenic/Likely pathogenic | 6 | 49425403 | 49425403 | C | T | criteria provided, multiple submitters, no conflicts | - |
single nucleotide variant | NM_000255.4(MMUT):c.1889G>C (p.Gly630Ala) | MMUT | Pathogenic/Likely pathogenic | 6 | 49407986 | 49407986 | C | G | criteria provided, multiple submitters, no conflicts | - |
single nucleotide variant | NM_052845.4(MMAB):c.12C>A (p.Cys4Ter) | MMAB | Pathogenic/Likely pathogenic | 12 | 110011274 | 110011274 | G | T | criteria provided, multiple submitters, no conflicts | - |
single nucleotide variant | NM_052845.4(MMAB):c.454G>T (p.Glu152Ter) | MMAB | Pathogenic/Likely pathogenic | 12 | 109999290 | 109999290 | C | A | criteria provided, multiple submitters, no conflicts | - |
single nucleotide variant | NM_000255.4(MMUT):c.654A>C (p.Gln218His) | MMUT | Pathogenic/Likely pathogenic | 6 | 49425503 | 49425503 | T | G | criteria provided, multiple submitters, no conflicts | - |
single nucleotide variant | NM_000255.4(MMUT):c.983T>C (p.Leu328Pro) | MMUT | Pathogenic/Likely pathogenic | 6 | 49421398 | 49421398 | A | G | criteria provided, multiple submitters, no conflicts | - |
single nucleotide variant | NM_000255.4(MMUT):c.1677-1G>C | MMUT | Pathogenic/Likely pathogenic | 6 | 49409685 | 49409685 | C | G | criteria provided, multiple submitters, no conflicts | - |
Deletion | NM_000255.4(MMUT):c.1946del (p.Pro649fs) | MMUT | Pathogenic/Likely pathogenic | 6 | 49407929 | 49407929 | AG | A | criteria provided, multiple submitters, no conflicts | - |