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_153676.4(USH1C):c.674+1G>A	USH1C	Pathogenic/Likely pathogenic	11	17547893	17547893	C	T	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_153676.4(USH1C):c.674+1del	USH1C	Likely pathogenic	11	17547893	17547893	AC	A	criteria provided, single submitter	-
single nucleotide variant	NM_000260.4(MYO7A):c.487G>A (p.Gly163Arg)	MYO7A	Pathogenic/Likely pathogenic	11	76867722	76867722	G	A	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_153676.4(USH1C):c.104+1G>A	USH1C	Likely pathogenic	11	17554801	17554801	C	T	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000260.4(MYO7A):c.1935+1G>C	MYO7A	Likely pathogenic	11	76883932	76883932	G	C	criteria provided, single submitter	-
single nucleotide variant	NM_000260.4(MYO7A):c.2878G>T (p.Glu960Ter)	MYO7A	Pathogenic/Likely pathogenic	11	76892609	76892609	G	T	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000260.4(MYO7A):c.3504-1G>C	MYO7A	Pathogenic	11	76900388	76900388	G	C	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000260.4(MYO7A):c.3576G>A (p.Trp1192Ter)	MYO7A	Pathogenic/Likely pathogenic	11	76900461	76900461	G	A	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_000260.4(MYO7A):c.3815_3822del (p.Leu1272fs)	MYO7A	Likely pathogenic	11	76901806	76901813	CTGCTGACG	C	criteria provided, single submitter	-
single nucleotide variant	NM_000260.4(MYO7A):c.4117C>T (p.Arg1373Ter)	MYO7A	Pathogenic	11	76903288	76903288	C	T	criteria provided, multiple submitters, no conflicts	-