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_000441.2(SLC26A4):c.1693T>G (p.Cys565Gly)	SLC26A4	Likely pathogenic	7	107340606	107340606	T	G	criteria provided, single submitter	ClinGen:CA4432910
single nucleotide variant	NM_004208.4(AIFM1):c.1019T>C (p.Met340Thr)	AIFM1	Pathogenic/Likely pathogenic	X	129271109	129271109	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA16043577,OMIM:300169.0015
single nucleotide variant	NM_001854.4(COL11A1):c.2754+5G>A	COL11A1	Pathogenic	1	103444259	103444259	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA16043725
single nucleotide variant	NM_002160.4(TNC):c.4172A>G (p.Gln1391Arg)	TNC	Likely pathogenic	9	117822143	117822143	T	C	criteria provided, single submitter	ClinGen:CA16043788
Deletion	NM_005422.4(TECTA):c.2359del (p.Glu787fs)	TECTA	Likely pathogenic	11	120999044	120999044	CG	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA16043791
single nucleotide variant	NM_004004.6(GJB2):c.-22-2A>C	GJB2	Likely pathogenic	13	20763744	20763744	T	G	reviewed by expert panel	ClinGen:CA6904346
single nucleotide variant	NM_182548.4(LHFPL5):c.575T>C (p.Leu192Pro)	LHFPL5	Pathogenic	6	35782485	35782485	T	C	criteria provided, single submitter	ClinGen:CA363786195
single nucleotide variant	NM_000245.4(MET):c.3749T>C (p.Met1250Thr)	MET	Likely pathogenic	7	116423474	116423474	T	C	criteria provided, single submitter	ClinGen:CA16602584
single nucleotide variant	NM_001039141.3(TRIOBP):c.4062+2T>C	TRIOBP	Likely pathogenic	22	38129421	38129421	T	C	criteria provided, single submitter	ClinGen:CA16603201
single nucleotide variant	NM_002906.4(RDX):c.467+1G>A	RDX	Likely pathogenic	11	110134684	110134684	C	T	criteria provided, single submitter	ClinGen:CA16603317