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_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_006005.3(WFS1):c.1944G>A (p.Trp648Ter)	WFS1	Pathogenic	4	6303466	6303466	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA253188,OMIM:606201.0005
single nucleotide variant	NM_006005.3(WFS1):c.1511C>T (p.Pro504Leu)	WFS1	Pathogenic/Likely pathogenic	4	6303033	6303033	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA253190,UniProtKB:O76024#VAR_005842,OMIM:606201.0006
Deletion	NM_006005.3(WFS1):c.1385_1393del (p.Glu462_Thr464del)	WFS1	Likely pathogenic	4	6302902	6302910	CCACCGAGGT	C	criteria provided, single submitter	OMIM:606201.0008
single nucleotide variant	NM_006005.3(WFS1):c.460+1G>A	WFS1	Pathogenic	4	6290859	6290859	G	A	criteria provided, single submitter	OMIM:606201.0009
single nucleotide variant	NM_006005.3(WFS1):c.676C>T (p.Gln226Ter)	WFS1	Pathogenic	4	6293688	6293688	C	T	criteria provided, single submitter	ClinGen:CA253192,OMIM:606201.0010
Duplication	NM_006005.3(WFS1):c.409_424dup (p.Val142fs)	WFS1	Pathogenic/Likely pathogenic	4	6290805	6290806	A	AGGGCCGTCGCGAGGCT	criteria provided, multiple submitters, no conflicts	ClinGen:CA253196,OMIM:606201.0013
single nucleotide variant	NM_006005.3(WFS1):c.2146G>A (p.Ala716Thr)	WFS1	Pathogenic/Likely pathogenic	4	6303668	6303668	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA253197,UniProtKB:O76024#VAR_032965,OMIM:606201.0014