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_144672.4(OTOA):c.2148C>A (p.Cys716Ter)	OTOA	Likely pathogenic	16	21739693	21739693	C	A	criteria provided, single submitter	ClinGen:CA10607036
Indel	NM_000441.2(SLC26A4):c.382_384delinsAA (p.Phe128fs)	SLC26A4	Pathogenic	7	107312660	107312662	TTT	AA	criteria provided, single submitter	ClinGen:CA10607073
Deletion	NM_013296.5(GPSM2):c.1473del (p.Phe492fs)	GPSM2	Pathogenic	1	109465069	109465069	AG	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA983068,OMIM:609245.0003
single nucleotide variant	NM_006005.3(WFS1):c.1839G>A (p.Trp613Ter)	WFS1	Pathogenic	4	6303361	6303361	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA2839516
Deletion	NM_000441.2(SLC26A4):c.55del (p.Ser19fs)	SLC26A4	Pathogenic/Likely pathogenic	7	107302141	107302141	CA	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA16041099
single nucleotide variant	NM_000441.2(SLC26A4):c.142G>T (p.Glu48Ter)	SLC26A4	Pathogenic/Likely pathogenic	7	107302228	107302228	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA4432371
single nucleotide variant	NM_000441.2(SLC26A4):c.249G>A (p.Trp83Ter)	SLC26A4	Pathogenic	7	107303825	107303825	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA16041100
single nucleotide variant	NM_000441.2(SLC26A4):c.281C>T (p.Thr94Ile)	SLC26A4	Pathogenic	7	107303857	107303857	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA16041101
single nucleotide variant	NM_000441.2(SLC26A4):c.416-1G>A	SLC26A4	Pathogenic	7	107314608	107314608	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA16041102
single nucleotide variant	NM_000441.2(SLC26A4):c.600+2T>A	SLC26A4	Pathogenic/Likely pathogenic	7	107314795	107314795	T	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA16041103