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_000260.4(MYO7A):c.3504-2A>G	MYO7A	Likely pathogenic	11	76900387	76900387	A	G	criteria provided, single submitter	-
single nucleotide variant	NM_000260.4(MYO7A):c.3924+1G>C	MYO7A	Pathogenic/Likely pathogenic	11	76901916	76901916	G	C	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_000260.4(MYO7A):c.4845del (p.Asn1616fs)	MYO7A	Likely pathogenic	11	76910853	76910853	AC	A	criteria provided, single submitter	-
Deletion	NM_000260.4(MYO7A):c.4919del (p.Gly1640fs)	MYO7A	Pathogenic/Likely pathogenic	11	76912557	76912557	CG	C	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000260.4(MYO7A):c.5043+1G>T	MYO7A	Likely pathogenic	11	76912684	76912684	G	T	criteria provided, multiple submitters, no conflicts	-
Duplication	NM_000260.4(MYO7A):c.5488dup (p.Glu1830fs)	MYO7A	Likely pathogenic	11	76916513	76916514	C	CG	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_000260.4(MYO7A):c.5797del (p.Thr1933fs)	MYO7A	Likely pathogenic	11	76918388	76918388	CA	C	criteria provided, single submitter	-
single nucleotide variant	NM_000260.4(MYO7A):c.5945-1G>A	MYO7A	Likely pathogenic	11	76919741	76919741	G	A	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000260.4(MYO7A):c.6028G>A (p.Asp2010Asn)	MYO7A	Pathogenic/Likely pathogenic	11	76919825	76919825	G	A	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_004004.6(GJB2):c.257del (p.Thr86fs)	GJB2	Likely pathogenic	13	20763464	20763464	CG	C	criteria provided, single submitter	-

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