single nucleotide variant | NM_021629.4(GNB4):c.158G>A (p.Gly53Asp) | GNB4 | Likely pathogenic | 3 | 179137232 | 179137232 | C | T | criteria provided, single submitter | ClinGen:CA130933,UniProtKB:Q9HAV0#VAR_069908,OMIM:610863.0001 |
single nucleotide variant | NM_021629.4(GNB4):c.229G>A (p.Gly77Arg) | GNB4 | Pathogenic/Likely pathogenic | 3 | 179134319 | 179134319 | C | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA355470461 |
single nucleotide variant | NM_021629.4(GNB4):c.265A>G (p.Lys89Glu) | GNB4 | Pathogenic | 3 | 179134283 | 179134283 | T | C | criteria provided, single submitter | ClinGen:CA130934,UniProtKB:Q9HAV0#VAR_069909,OMIM:610863.0002 |
Duplication | NM_000530.8(MPZ):c.-23_8dup (p.Ala5fs) | MPZ | Pathogenic | 1 | 161279687 | 161279688 | A | AGGAGCCATAGCTGGGGCAGGGGCAGGGGCCC | criteria provided, single submitter | ClinGen:CA645293790 |
Deletion | NM_000530.8(MPZ):c.26del (p.Ser9fs) | MPZ | Likely pathogenic | 1 | 161279670 | 161279670 | GC | G | criteria provided, single submitter | ClinGen:CA16617017 |
single nucleotide variant | NM_000530.8(MPZ):c.67+1G>A | MPZ | Pathogenic | 1 | 161279628 | 161279628 | C | T | criteria provided, single submitter | ClinGen:CA343352876 |
single nucleotide variant | NM_000530.8(MPZ):c.68-1G>A | MPZ | Pathogenic/Likely pathogenic | 1 | 161277215 | 161277215 | C | T | criteria provided, multiple submitters, no conflicts | - |
single nucleotide variant | NM_000530.8(MPZ):c.68-1G>C | MPZ | Pathogenic | 1 | 161277215 | 161277215 | C | G | criteria provided, single submitter | ClinGen:CA16042314 |
Deletion | NM_000530.8(MPZ):c.77del (p.Pro26fs) | MPZ | Pathogenic | 1 | 161277205 | 161277205 | CG | C | criteria provided, multiple submitters, no conflicts | - |
single nucleotide variant | NM_000530.8(MPZ):c.89T>G (p.Ile30Ser) | MPZ | Likely pathogenic | 1 | 161277193 | 161277193 | A | C | criteria provided, single submitter | - |