遺伝性難聴 - MGenReviews

遺伝性難聴

小児・神経疾患

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Type	Name	Gene Symbol	Clinical Significance	Chromosome	Start	Stop	Reference Allele	Alternate Allele	Review Status	Other IDs
Type	Name	Gene Symbol	Clinical Significance	Chromosome	(GRCh37)		Reference Allele	Alternate Allele	Review Status	Other IDs
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.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.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.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_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_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.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.3G>A (p.Met1Ile)	BSND	Pathogenic/Likely pathogenic	1	55464862	55464862	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA116807,OMIM:606412.0005
single nucleotide variant	NM_057176.3(BSND):c.22C>T (p.Arg8Trp)	BSND	Pathogenic/Likely pathogenic	1	55464881	55464881	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA116806,UniProtKB:Q8WZ55#VAR_019784,OMIM:606412.0002
single nucleotide variant	NM_057176.3(BSND):c.1A>T (p.Met1Leu)	BSND	Pathogenic	1	55464860	55464860	A	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA116804,OMIM:606412.0001