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
Deletion	NM_000260.4(MYO7A):c.4108_4111del (p.Gln1370fs)	MYO7A	Pathogenic/Likely pathogenic	11	76903278	76903281	AGCAG	A	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_004004.6(GJB2):c.1A>T (p.Met1Leu)	GJB2	Likely pathogenic	13	20763720	20763720	T	A	criteria provided, single submitter	-
Deletion	NM_000260.4(MYO7A):c.4297del (p.Gln1433fs)	MYO7A	Pathogenic	11	76905541	76905541	GC	G	criteria provided, single submitter	-
Deletion	NM_000260.4(MYO7A):c.4576del (p.Arg1526fs)	MYO7A	Likely pathogenic	11	76910586	76910586	GC	G	criteria provided, single submitter	-
Deletion	NM_000260.4(MYO7A):c.4642del (p.Gly1547_Leu1548insTer)	MYO7A	Pathogenic/Likely pathogenic	11	76910653	76910653	AC	A	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_000260.4(MYO7A):c.4659_4660del (p.Cys1554fs)	MYO7A	Likely pathogenic	11	76910670	76910671	CCT	C	criteria provided, single submitter	-
Deletion	NM_000260.4(MYO7A):c.5013del (p.Thr1672fs)	MYO7A	Likely pathogenic	11	76912651	76912651	GC	G	criteria provided, single submitter	-
single nucleotide variant	NM_000260.4(MYO7A):c.5168+2T>C	MYO7A	Pathogenic/Likely pathogenic	11	76913471	76913471	T	C	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_000260.4(MYO7A):c.5259del (p.Lys1753fs)	MYO7A	Pathogenic/Likely pathogenic	11	76914195	76914195	AG	A	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_000260.4(MYO7A):c.5632del (p.Ala1877_Leu1878insTer)	MYO7A	Pathogenic	11	76916656	76916656	GC	G	criteria provided, multiple submitters, no conflicts	-

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