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_153700.2(STRC):c.259C>T (p.Gln87Ter)	STRC	Pathogenic	15	43910360	43910360	G	A	criteria provided, single submitter	-
single nucleotide variant	NM_016239.4(MYO15A):c.3795C>A (p.Tyr1265Ter)	MYO15A	Likely pathogenic	17	18029699	18029699	C	A	criteria provided, single submitter	-
single nucleotide variant	NM_016239.4(MYO15A):c.9517+2T>C	MYO15A	Likely pathogenic	17	18064763	18064763	T	C	reviewed by expert panel	-
single nucleotide variant	NM_001614.5(ACTG1):c.1002G>C (p.Glu334Asp)	ACTG1	Likely pathogenic	17	79477842	79477842	C	G	criteria provided, single submitter	-
Deletion	NC_000006.12:g.(?_133506020)_(133528840_?)del	EYA4	Likely pathogenic	6	133827158	133849978	na	na	criteria provided, single submitter	-
Deletion	NC_000009.12:g.(?_72648590)_(72648670_?)del	TMC1	Pathogenic	9	75263506	75263586	na	na	criteria provided, single submitter	-
Deletion	NC_000012.11:g.80632665_80732812del	OTOGL	Likely pathogenic	12	80632665	80732812	na	na	criteria provided, single submitter	-