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_015404.4(WHRN):c.26C>A (p.Ser9Ter)	WHRN	Pathogenic	9	117267056	117267056	G	T	criteria provided, single submitter	-
Deletion	NM_015404.4(WHRN):c.837+1del	WHRN	Likely pathogenic	9	117240832	117240832	AC	A	criteria provided, single submitter	ClinGen:CA5206191
Duplication	NM_015404.4(WHRN):c.856dup (p.Asp286fs)	WHRN	Pathogenic/Likely pathogenic	9	117228653	117228654	T	TC	criteria provided, multiple submitters, no conflicts	ClinGen:CA16618729
single nucleotide variant	NM_015404.4(WHRN):c.1417-1G>A	WHRN	Pathogenic/Likely pathogenic	9	117185804	117185804	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA275406
Deletion	NM_015404.4(WHRN):c.643del (p.Val215fs)	WHRN	Pathogenic	9	117241027	117241027	AC	A	criteria provided, single submitter	ClinGen:CA277980
single nucleotide variant	NM_015404.4(WHRN):c.1267C>T (p.Arg423Ter)	WHRN	Pathogenic	9	117186763	117186763	G	A	criteria provided, single submitter	ClinGen:CA277978
Duplication	NM_015404.4(WHRN):c.680dup (p.Tyr228fs)	WHRN	Pathogenic	9	117240989	117240990	G	GC	criteria provided, single submitter	OMIM:607928.0005
single nucleotide variant	NM_015404.4(WHRN):c.2332C>T (p.Arg778Ter)	WHRN	Pathogenic	9	117166262	117166262	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA252404,OMIM:607928.0001
Deletion	NM_006005.3(WFS1):c.439del (p.Arg147fs)	WFS1	Pathogenic	4	6290836	6290836	GC	G	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_006005.3(WFS1):c.1174C>T (p.Gln392Ter)	WFS1	Likely pathogenic	4	6302696	6302696	C	T	criteria provided, single submitter	-