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_006005.3(WFS1):c.2141A>C (p.Asn714Thr)	WFS1	Pathogenic	4	6303663	6303663	A	C	criteria provided, single submitter	ClinGen:CA261752
single nucleotide variant	NM_015404.4(WHRN):c.1267C>T (p.Arg423Ter)	WHRN	Pathogenic	9	117186763	117186763	G	A	criteria provided, single submitter	ClinGen:CA277978
Deletion	NM_015404.4(WHRN):c.643del (p.Val215fs)	WHRN	Pathogenic	9	117241027	117241027	AC	A	criteria provided, single submitter	ClinGen:CA277980
single nucleotide variant	NM_016239.4(MYO15A):c.6788G>A (p.Gly2263Asp)	MYO15A	Likely pathogenic	17	18052098	18052098	G	A	criteria provided, single submitter	ClinGen:CA261767
Duplication	NM_016239.4(MYO15A):c.7006dup (p.Gln2336fs)	MYO15A	Pathogenic	17	18052575	18052576	A	AC	criteria provided, multiple submitters, no conflicts	ClinGen:CA261769
Deletion	NM_016239.4(MYO15A):c.8100del (p.Lys2701fs)	MYO15A	Pathogenic	17	18057453	18057453	AC	A	criteria provided, single submitter	ClinGen:CA261770
single nucleotide variant	NM_016239.4(MYO15A):c.8767C>T (p.Arg2923Ter)	MYO15A	Pathogenic	17	18060523	18060523	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA261771
Deletion	NM_022124.6(CDH23):c.2012del (p.Phe671fs)	CDH23	Pathogenic	10	73447428	73447428	CT	C	criteria provided, single submitter	ClinGen:CA261775
single nucleotide variant	NM_022124.6(CDH23):c.3481C>T (p.Arg1161Ter)	CDH23	Pathogenic	10	73485179	73485179	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA261776
single nucleotide variant	NM_022124.6(CDH23):c.3628C>T (p.Gln1210Ter)	CDH23	Pathogenic	10	73490274	73490274	C	T	criteria provided, single submitter	ClinGen:CA261778

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