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_016239.4(MYO15A):c.996C>G (p.Tyr332Ter)	MYO15A	Likely pathogenic	17	18023110	18023110	C	G	reviewed by expert panel	ClinGen:CA8422996
single nucleotide variant	NM_016239.4(MYO15A):c.6893G>A (p.Arg2298Gln)	MYO15A	Likely pathogenic	17	18052203	18052203	G	A	criteria provided, single submitter	ClinGen:CA288409322
single nucleotide variant	NM_001384474.1(LOXHD1):c.3148G>T (p.Glu1050Ter)	LOXHD1	Pathogenic/Likely pathogenic	18	44139479	44139479	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA402369226
single nucleotide variant	NM_001292063.2(OTOG):c.7585+2T>C	OTOG	Likely pathogenic	11	17656497	17656497	T	C	criteria provided, single submitter	ClinGen:CA379812868
Deletion	NM_173591.3(OTOGL):c.(?_2657)_(4690_?)del	OTOGL	Pathogenic	12	80671950	80730309	na	na	criteria provided, single submitter	-
Deletion	NM_001378609.3(OTOGL):c.5341del (p.Ser1781fs)	OTOGL	Pathogenic	12	80746148	80746148	CT	C	criteria provided, single submitter	ClinGen:CA6701678
single nucleotide variant	NM_004086.3(COCH):c.260G>C (p.Gly87Ala)	COCH	Likely pathogenic	14	31348037	31348037	G	C	criteria provided, single submitter	ClinGen:CA389344544
single nucleotide variant	NM_001379180.1(ESRRB):c.808C>T (p.Arg270Ter)	ESRRB	Likely pathogenic	14	76949060	76949060	C	T	criteria provided, single submitter	ClinGen:CA390478677
Deletion	NM_153700.2(STRC):c.3128_3138+5del	STRC	Likely pathogenic	15	43903692	43903707	ACTCACATCGTGCCTAG	A	criteria provided, single submitter	ClinGen:CA658798323
single nucleotide variant	NM_144672.4(OTOA):c.268-2A>G	OTOA	Pathogenic	16	21696549	21696549	A	G	criteria provided, single submitter	ClinGen:CA7952260