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_016356.5(DCDC2):c.890T>A (p.Leu297Ter)	DCDC2	Pathogenic	6	24278309	24278309	A	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA136634449,OMIM:605755.0007
Duplication	NM_016356.5(DCDC2):c.529dup (p.Ile177fs)	DCDC2	Pathogenic	6	24301970	24301971	A	AT	criteria provided, multiple submitters, no conflicts	ClinGen:CA136637324,OMIM:605755.0008
single nucleotide variant	NM_001292063.2(OTOG):c.2464C>T (p.Gln822Ter)	OTOG	Pathogenic/Likely pathogenic	11	17596437	17596437	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA5905625
single nucleotide variant	NM_013296.5(GPSM2):c.1093C>T (p.Arg365Ter)	GPSM2	Pathogenic	1	109446777	109446777	C	T	criteria provided, single submitter	ClinGen:CA982969
single nucleotide variant	NM_024009.3(GJB3):c.110T>A (p.Val37Glu)	GJB3	Likely pathogenic	1	35250473	35250473	T	A	criteria provided, single submitter	ClinGen:CA16617140
single nucleotide variant	NM_004700.4(KCNQ4):c.701A>G (p.His234Arg)	KCNQ4	Likely pathogenic	1	41284345	41284345	A	G	criteria provided, single submitter	ClinGen:CA16617142
Deletion	NM_194248.3(OTOF):c.1397_1409del (p.Lys466fs)	OTOF	Likely pathogenic	2	26705444	26705456	CTGCACTGAAGTCT	C	criteria provided, single submitter	ClinGen:CA16617523
single nucleotide variant	NM_001001331.4(ATP2B2):c.1369G>A (p.Glu457Lys)	ATP2B2	Likely pathogenic	3	10417161	10417161	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA16617794
Deletion	NM_006005.3(WFS1):c.124del (p.Arg42fs)	WFS1	Pathogenic	4	6279303	6279303	GC	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA16618050
single nucleotide variant	NM_006005.3(WFS1):c.605A>G (p.Glu202Gly)	WFS1	Pathogenic/Likely pathogenic	4	6293068	6293068	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA16618051