single nucleotide variant | NM_057176.3(BSND):c.28G>A (p.Gly10Ser) | BSND | Pathogenic | 1 | 55464887 | 55464887 | G | A | criteria provided, single submitter | ClinGen:CA116809,UniProtKB:Q8WZ55#VAR_019785,OMIM:606412.0006 |
single nucleotide variant | NM_057176.3(BSND):c.139G>A (p.Gly47Arg) | BSND | Pathogenic | 1 | 55464998 | 55464998 | G | A | criteria provided, multiple submitters, no conflicts | OMIM:606412.0008,ClinGen:CA116811,UniProtKB:Q8WZ55#VAR_019786 |
single nucleotide variant | NM_057176.3(BSND):c.10G>T (p.Glu4Ter) | BSND | Pathogenic | 1 | 55464869 | 55464869 | G | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA116814,OMIM:606412.0010 |
single nucleotide variant | NM_004700.4(KCNQ4):c.853G>A (p.Gly285Ser) | KCNQ4 | Pathogenic | 1 | 41285565 | 41285565 | G | A | reviewed by expert panel | ClinGen:CA340532,UniProtKB:P56696#VAR_001547,OMIM:603537.0001 |
single nucleotide variant | NM_004700.4(KCNQ4):c.827G>C (p.Trp276Ser) | KCNQ4 | Pathogenic | 1 | 41285137 | 41285137 | G | C | criteria provided, single submitter | ClinGen:CA340533,UniProtKB:P56696#VAR_008726,OMIM:603537.0002 |
single nucleotide variant | NM_004700.4(KCNQ4):c.961G>A (p.Gly321Ser) | KCNQ4 | Pathogenic/Likely pathogenic | 1 | 41285852 | 41285852 | G | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA340534,UniProtKB:P56696#VAR_008728,OMIM:603537.0003 |
single nucleotide variant | NM_004700.4(KCNQ4):c.853G>T (p.Gly285Cys) | KCNQ4 | Pathogenic | 1 | 41285565 | 41285565 | G | T | criteria provided, single submitter | ClinGen:CA340535,UniProtKB:P56696#VAR_008727,OMIM:603537.0004 |
single nucleotide variant | NM_004700.4(KCNQ4):c.842T>C (p.Leu281Ser) | KCNQ4 | Pathogenic | 1 | 41285554 | 41285554 | T | C | criteria provided, multiple submitters, no conflicts | ClinGen:CA340537,UniProtKB:P56696#VAR_010937,OMIM:603537.0006 |
single nucleotide variant | NM_024009.3(GJB3):c.35G>A (p.Gly12Asp) | GJB3 | Pathogenic | 1 | 35250398 | 35250398 | G | A | criteria provided, single submitter | ClinGen:CA118303,UniProtKB:O75712#VAR_002147,OMIM:603324.0002 |
single nucleotide variant | NM_002241.5(KCNJ10):c.595C>T (p.Arg199Ter) | KCNJ10 | Pathogenic/Likely pathogenic | 1 | 160011728 | 160011728 | G | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA118808,OMIM:602208.0002 |