single nucleotide variant | NM_002437.5(MPV17):c.280G>C (p.Gly94Arg) | MPV17 | Likely pathogenic | 2 | 27535456 | 27535456 | C | G | criteria provided, multiple submitters, no conflicts | UniProtKB:P39210#VAR_076202 |
single nucleotide variant | NM_000530.8(MPZ):c.382G>A (p.Asp128Asn) | MPZ | Likely pathogenic | 1 | 161276564 | 161276564 | C | T | criteria provided, single submitter | UniProtKB:P25189#VAR_004533,OMIM:159440.0015,ClinVar:14180 |
single nucleotide variant | NM_000166.6(GJB1):c.536G>A (p.Cys179Tyr) | GJB1 | Likely pathogenic | X | 70444093 | 70444093 | G | A | criteria provided, single submitter | ClinGen:CA341605 |
single nucleotide variant | NM_170707.4(LMNA):c.777T>A (p.Tyr259Ter) | LMNA | Likely pathogenic | 1 | 156104733 | 156104733 | T | A | criteria provided, single submitter | ClinGen:CA018615,OMIM:150330.0035 |
single nucleotide variant | NM_170707.4(LMNA):c.398G>C (p.Arg133Pro) | LMNA | Likely pathogenic | 1 | 156100449 | 156100449 | G | C | criteria provided, single submitter | ClinGen:CA018038,UniProtKB:P02545#VAR_017657,OMIM:150330.0032 |
single nucleotide variant | NM_000530.8(MPZ):c.276G>A (p.Val92=) | MPZ | Likely pathogenic | 1 | 161276670 | 161276670 | C | T | criteria provided, single submitter | OMIM:159440.0035 |
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_002764.4(PRPS1):c.344T>C (p.Met115Thr) | PRPS1 | Likely pathogenic | X | 106884169 | 106884169 | T | C | criteria provided, single submitter | ClinGen:CA340960,UniProtKB:P60891#VAR_036942,OMIM:311850.0010 |
single nucleotide variant | NM_002764.4(PRPS1):c.547G>C (p.Asp183His) | PRPS1 | Likely pathogenic | X | 106888423 | 106888423 | G | C | criteria provided, single submitter | ClinGen:CA254935,UniProtKB:P60891#VAR_004164,OMIM:311850.0002 |
single nucleotide variant | NM_002764.4(PRPS1):c.341A>G (p.Asn114Ser) | PRPS1 | Likely pathogenic | X | 106884166 | 106884166 | A | G | criteria provided, multiple submitters, no conflicts | ClinGen:CA254933,UniProtKB:P60891#VAR_004163,OMIM:311850.0001 |