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.2254G>T (p.Glu752Ter)	WFS1	Pathogenic/Likely pathogenic	4	6303776	6303776	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA319834
Deletion	NM_006005.3(WFS1):c.1243_1245del (p.Val415del)	WFS1	Pathogenic	4	6302763	6302765	TTCG	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA324375,OMIM:606201.0029
single nucleotide variant	NM_006005.3(WFS1):c.631G>A (p.Asp211Asn)	WFS1	Pathogenic/Likely pathogenic	4	6293094	6293094	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA320894
single nucleotide variant	NM_006005.3(WFS1):c.505G>A (p.Glu169Lys)	WFS1	Pathogenic/Likely pathogenic	4	6292968	6292968	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA321089,UniProtKB:O76024#VAR_009109
single nucleotide variant	NM_006005.3(WFS1):c.2369C>A (p.Ser790Ter)	WFS1	Pathogenic	4	6303891	6303891	C	A	criteria provided, single submitter	ClinGen:CA277064
single nucleotide variant	NM_006005.3(WFS1):c.873C>G (p.Tyr291Ter)	WFS1	Pathogenic	4	6302395	6302395	C	G	criteria provided, single submitter	ClinGen:CA276989
Deletion	NM_006005.3(WFS1):c.2648_2651del (p.Phe883fs)	WFS1	Pathogenic/Likely pathogenic	4	6304168	6304171	TTTTC	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA276185,OMIM:606201.0012
single nucleotide variant	NM_006005.3(WFS1):c.124C>T (p.Arg42Ter)	WFS1	Pathogenic/Likely pathogenic	4	6279306	6279306	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA274502
Duplication	NM_006005.3(WFS1):c.1441_1447dup (p.Val483fs)	WFS1	Pathogenic/Likely pathogenic	4	6302962	6302963	C	CCTGAAGG	criteria provided, multiple submitters, no conflicts	ClinGen:CA273296,OMIM:606201.0007
single nucleotide variant	NM_006005.3(WFS1):c.2141A>C (p.Asn714Thr)	WFS1	Pathogenic	4	6303663	6303663	A	C	criteria provided, single submitter	ClinGen:CA261752