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_001378609.3(OTOGL):c.1078C>T (p.Arg360Ter)	OTOGL	Pathogenic/Likely pathogenic	12	80645498	80645498	C	T	criteria provided, multiple submitters, no conflicts	-
Duplication	NM_001292063.2(OTOG):c.5926dup (p.Gln1976fs)	OTOG	Pathogenic/Likely pathogenic	11	17632767	17632768	G	GC	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_001384474.1(LOXHD1):c.4212+1G>A	LOXHD1	Pathogenic/Likely pathogenic	18	44114297	44114297	C	T	criteria provided, multiple submitters, no conflicts	-
Indel	NM_022124.6(CDH23):c.4105-4_4105-2delinsTCT	CDH23	Pathogenic/Likely pathogenic	10	73493993	73493995	GCA	TCT	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_001384474.1(LOXHD1):c.1468C>T (p.Arg490Ter)	LOXHD1	Pathogenic/Likely pathogenic	18	44172511	44172511	G	A	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_004004.6(GJB2):c.576del (p.Val193fs)	GJB2	Pathogenic/Likely pathogenic	13	20763145	20763145	CT	C	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000260.4(MYO7A):c.5215C>T (p.Arg1739Ter)	MYO7A	Pathogenic/Likely pathogenic	11	76914151	76914151	C	T	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_022124.6(CDH23):c.6831del (p.Lys2278fs)	CDH23	Pathogenic/Likely pathogenic	10	73558111	73558111	GC	G	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_001384140.1(PCDH15):c.1209T>G (p.Tyr403Ter)	PCDH15	Pathogenic/Likely pathogenic	10	55955539	55955539	A	C	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_024678.6(NARS2):c.969T>A (p.Tyr323Ter)	NARS2	Pathogenic/Likely pathogenic	11	78180350	78180350	A	T	criteria provided, multiple submitters, no conflicts	OMIM:612803.0003