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_006005.3(WFS1):c.1999C>T (p.Gln667Ter)	WFS1	Pathogenic/Likely pathogenic	4	6303521	6303521	C	T	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_006005.3(WFS1):c.2643_2646del (p.Phe882fs)	WFS1	Likely pathogenic	4	6304163	6304166	CTTCT	C	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_006005.3(WFS1):c.330C>A (p.Tyr110Ter)	WFS1	Pathogenic	4	6290728	6290728	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA356171265
single nucleotide variant	NM_006005.3(WFS1):c.2600G>A (p.Trp867Ter)	WFS1	Pathogenic/Likely pathogenic	4	6304122	6304122	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA356179417
single nucleotide variant	NM_006005.3(WFS1):c.2149G>A (p.Glu717Lys)	WFS1	Likely pathogenic	4	6303671	6303671	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA2839622
single nucleotide variant	NM_006005.3(WFS1):c.2654C>T (p.Pro885Leu)	WFS1	Pathogenic/Likely pathogenic	4	6304176	6304176	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA2839823
single nucleotide variant	NM_006005.3(WFS1):c.2189G>A (p.Trp730Ter)	WFS1	Pathogenic/Likely pathogenic	4	6303711	6303711	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA2839638
single nucleotide variant	NM_006005.3(WFS1):c.2411T>C (p.Leu804Pro)	WFS1	Likely pathogenic	4	6303933	6303933	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA356178530
single nucleotide variant	NM_006005.3(WFS1):c.1082C>T (p.Thr361Ile)	WFS1	Pathogenic/Likely pathogenic	4	6302604	6302604	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA2839213
single nucleotide variant	NM_006005.3(WFS1):c.1673G>A (p.Arg558His)	WFS1	Pathogenic/Likely pathogenic	4	6303195	6303195	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA2839440