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_001199107.2(TBC1D24):c.1206+5G>A	TBC1D24	Pathogenic	16	2549426	2549426	G	A	criteria provided, single submitter	ClinGen:CA266221,OMIM:613577.0011
Duplication	NM_004004.6(GJB2):c.35dup (p.Val13fs)	GJB2	Pathogenic/Likely pathogenic	13	20763685	20763686	A	AC	criteria provided, multiple submitters, no conflicts	ClinGen:CA222247
single nucleotide variant	NM_001243133.2(NLRP3):c.1043C>T (p.Thr348Met)	NLRP3	Pathogenic	1	247587794	247587794	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA281117
single nucleotide variant	NM_001243133.2(NLRP3):c.1051G>A (p.Val351Met)	NLRP3	Likely pathogenic	1	247587802	247587802	G	A	criteria provided, single submitter	ClinGen:CA281121
single nucleotide variant	NM_001243133.2(NLRP3):c.1054G>A (p.Ala352Thr)	NLRP3	Likely pathogenic	1	247587805	247587805	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA281129
single nucleotide variant	NM_001243133.2(NLRP3):c.1213A>C (p.Thr405Pro)	NLRP3	Pathogenic/Likely pathogenic	1	247587964	247587964	A	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA281145
single nucleotide variant	NM_001243133.2(NLRP3):c.1307C>T (p.Thr436Ile)	NLRP3	Pathogenic/Likely pathogenic	1	247588058	247588058	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA281177
single nucleotide variant	NM_001243133.2(NLRP3):c.1315G>A (p.Ala439Thr)	NLRP3	Pathogenic	1	247588066	247588066	G	A	criteria provided, single submitter	ClinGen:CA281181
single nucleotide variant	NM_001243133.2(NLRP3):c.1568T>G (p.Phe523Cys)	NLRP3	Pathogenic	1	247588319	247588319	T	G	criteria provided, single submitter	ClinGen:CA281225
single nucleotide variant	NM_001243133.2(NLRP3):c.1573G>A (p.Glu525Lys)	NLRP3	Likely pathogenic	1	247588324	247588324	G	A	criteria provided, single submitter	ClinGen:CA281234

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