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.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>A (p.Arg98His) | MPZ | Pathogenic/Likely pathogenic | 1 | 161276653 | 161276653 | C | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA257154,UniProtKB:P25189#VAR_004519,OMIM:159440.0011 |
single nucleotide variant | NM_000530.8(MPZ):c.188C>T (p.Ser63Phe) | MPZ | Pathogenic/Likely pathogenic | 1 | 161277094 | 161277094 | G | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA257156,UniProtKB:P25189#VAR_004509,OMIM:159440.0012 |
single nucleotide variant | NM_000530.8(MPZ):c.242A>G (p.His81Arg) | MPZ | Pathogenic | 1 | 161276704 | 161276704 | T | C | criteria provided, multiple submitters, no conflicts | ClinGen:CA341323,UniProtKB:P25189#VAR_004513,OMIM:159440.0014 |
single nucleotide variant | NM_000530.8(MPZ):c.371C>T (p.Thr124Met) | MPZ | Pathogenic | 1 | 161276575 | 161276575 | G | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA257158,UniProtKB:P25189#VAR_004529,OMIM:159440.0016 |
single nucleotide variant | NM_000530.8(MPZ):c.103G>T (p.Asp35Tyr) | MPZ | Pathogenic/Likely pathogenic | 1 | 161277179 | 161277179 | C | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA250638,UniProtKB:P25189#VAR_015971,OMIM:159440.0018 |
single nucleotide variant | NM_000530.8(MPZ):c.224A>T (p.Asp75Val) | MPZ | Pathogenic | 1 | 161277058 | 161277058 | T | A | criteria provided, single submitter | ClinGen:CA257160,UniProtKB:P25189#VAR_015973,OMIM:159440.0019 |
single nucleotide variant | NM_000530.8(MPZ):c.131C>T (p.Ser44Phe) | MPZ | Pathogenic | 1 | 161277151 | 161277151 | G | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA257162,UniProtKB:P25189#VAR_004503,OMIM:159440.0020 |
single nucleotide variant | NM_000530.8(MPZ):c.393C>A (p.Asn131Lys) | MPZ | Pathogenic | 1 | 161276553 | 161276553 | G | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA123803,UniProtKB:P25189#VAR_015978,OMIM:159440.0021 |