遺伝性難聴 - MGenReviews

遺伝性難聴

小児・神経疾患

疾患の紹介

病的バリアントリスト

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最新の情報は下記 URL でご確認いただけます (外部サイトへ移動します) 。

https://ftp.ncbi.nlm.nih.gov/pub/clinvar/tab_delimited/archive/

表のタイトル行が青色の項目は、クリックすることでソートすることができます。

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_022124.6(CDH23):c.2177-2A>G	CDH23	Likely pathogenic	10	73453902	73453902	A	G	criteria provided, single submitter	-
single nucleotide variant	NM_001384474.1(LOXHD1):c.2047+1G>T	LOXHD1	Likely pathogenic	18	44152048	44152048	C	A	criteria provided, single submitter	-
single nucleotide variant	NM_001199107.2(TBC1D24):c.983+2T>C	TBC1D24	Likely pathogenic	16	2547730	2547730	T	C	criteria provided, single submitter	-
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	-
single nucleotide variant	NM_001199107.2(TBC1D24):c.1079G>A (p.Arg360His)	TBC1D24	Likely pathogenic	16	2548334	2548334	G	A	criteria provided, single submitter	OMIM:613577.0016
single nucleotide variant	NM_003672.4(CDC14A):c.520C>T (p.Arg174Ter)	CDC14A	Likely pathogenic	1	100920961	100920961	C	T	criteria provided, single submitter	-
single nucleotide variant	NM_194248.3(OTOF):c.3864+1G>A	OTOF	Pathogenic	2	26695386	26695386	C	T	criteria provided, single submitter	-
Duplication	NM_182548.4(LHFPL5):c.89dup (p.Thr31fs)	LHFPL5	Likely pathogenic	6	35773532	35773533	T	TG	criteria provided, single submitter	-
Indel	NM_004999.4(MYO6):c.258_259delinsCTTTACTAAA (p.Tyr87fs)	MYO6	Likely pathogenic	6	76538327	76538328	TT	CTTTACTAAA	criteria provided, single submitter	-
single nucleotide variant	NM_138691.3(TMC1):c.741+1G>A	TMC1	Likely pathogenic	9	75369801	75369801	G	A	criteria provided, single submitter	-

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