single nucleotide variant | NM_000530.8(MPZ):c.292C>T (p.Arg98Cys) | MPZ | Pathogenic | 1 | 161276654 | 161276654 | G | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA257152,UniProtKB:P25189#VAR_004518,OMIM:159440.0010 |
single nucleotide variant | NM_000530.8(MPZ):c.293G>C (p.Arg98Pro) | MPZ | Pathogenic/Likely pathogenic | 1 | 161276653 | 161276653 | C | G | criteria provided, multiple submitters, no conflicts | ClinGen:CA257150,UniProtKB:P25189#VAR_004520,OMIM:159440.0009 |
single nucleotide variant | NM_000530.8(MPZ):c.409G>A (p.Gly137Ser) | MPZ | Likely pathogenic | 1 | 161276537 | 161276537 | C | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA257148,UniProtKB:P25189#VAR_004540,OMIM:159440.0008 |
single nucleotide variant | NM_000530.8(MPZ):c.404T>C (p.Ile135Thr) | MPZ | Pathogenic/Likely pathogenic | 1 | 161276542 | 161276542 | A | G | criteria provided, multiple submitters, no conflicts | ClinGen:CA257146,UniProtKB:P25189#VAR_004539,OMIM:159440.0007 |
single nucleotide variant | NM_000530.8(MPZ):c.499G>C (p.Gly167Arg) | MPZ | Pathogenic | 1 | 161276204 | 161276204 | C | G | criteria provided, multiple submitters, no conflicts | ClinGen:CA123798,UniProtKB:P25189#VAR_004544,OMIM:159440.0005 |
single nucleotide variant | NM_000530.8(MPZ):c.188C>G (p.Ser63Cys) | MPZ | Pathogenic | 1 | 161277094 | 161277094 | G | C | criteria provided, multiple submitters, no conflicts | ClinGen:CA123796,UniProtKB:P25189#VAR_004508,OMIM:159440.0004 |
single nucleotide variant | NM_000530.8(MPZ):c.270C>A (p.Asp90Glu) | MPZ | Pathogenic | 1 | 161276676 | 161276676 | G | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA257144,UniProtKB:P25189#VAR_004515,OMIM:159440.0002 |
single nucleotide variant | NM_000530.8(MPZ):c.286A>G (p.Lys96Glu) | MPZ | Pathogenic | 1 | 161276660 | 161276660 | T | C | criteria provided, single submitter | ClinGen:CA257142,UniProtKB:P25189#VAR_004517,OMIM:159440.0001 |
single nucleotide variant | NM_003680.4(YARS1):c.586G>A (p.Glu196Lys) | YARS1 | Pathogenic | 1 | 33263369 | 33263369 | C | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA118054,UniProtKB:P54577#VAR_026684,OMIM:603623.0002 |
single nucleotide variant | NM_003680.4(YARS1):c.121G>A (p.Gly41Arg) | YARS1 | Pathogenic | 1 | 33276595 | 33276595 | C | T | criteria provided, single submitter | ClinGen:CA118052,UniProtKB:P54577#VAR_026681,OMIM:603623.0001 |