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
Duplication	NM_001379180.1(ESRRB):c.1011dup (p.Leu338fs)	ESRRB	Likely pathogenic	14	76957946	76957947	C	CG	criteria provided, single submitter	ClinGen:CA658798235
single nucleotide variant	NM_138691.3(TMC1):c.236+1G>A	TMC1	Pathogenic	9	75309631	75309631	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA5081626
Deletion	NM_006383.4(CIB2):c.300_309del (p.Glu100fs)	CIB2	Pathogenic/Likely pathogenic	15	78401614	78401623	GGGGAGCCGAC	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA7680238
single nucleotide variant	NM_017433.5(MYO3A):c.2263-2A>C	MYO3A	Likely pathogenic	10	26432375	26432375	A	C	criteria provided, single submitter	ClinGen:CA376334256
Deletion	NM_001277269.1(OTOG):c.(?_3914)-61_(6474_?)+67del	OTOG	Likely pathogenic	11	17627343	17634379	na	na	criteria provided, single submitter	-
single nucleotide variant	NM_005422.4(TECTA):c.2719C>T (p.Arg907Ter)	TECTA	Likely pathogenic	11	121000698	121000698	C	T	criteria provided, single submitter	ClinGen:CA6327048
single nucleotide variant	NM_022124.6(CDH23):c.8064+1G>T	CDH23	Pathogenic/Likely pathogenic	10	73565755	73565755	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA377162268
Deletion	NM_005422.4(TECTA):c.5754_5755del (p.Val1918_Ile1919insTer)	TECTA	Pathogenic	11	121039389	121039390	TAA	T	criteria provided, single submitter	ClinGen:CA658797822
single nucleotide variant	NM_001292063.2(OTOG):c.3457C>T (p.Arg1153Ter)	OTOG	Pathogenic/Likely pathogenic	11	17617633	17617633	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA218461639
Duplication	NM_001292063.2(OTOG):c.7353dup (p.Ala2452fs)	OTOG	Pathogenic/Likely pathogenic	11	17655699	17655700	C	CA	criteria provided, multiple submitters, no conflicts	ClinGen:CA597905144