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_004004.6(GJB2):c.195C>G (p.Tyr65Ter)	GJB2	Pathogenic/Likely pathogenic	13	20763526	20763526	G	C	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_016239.4(MYO15A):c.4198G>A (p.Val1400Met)	MYO15A	Pathogenic	17	18034837	18034837	G	A	reviewed by expert panel	-
single nucleotide variant	NM_024678.6(NARS2):c.969T>A (p.Tyr323Ter)	NARS2	Pathogenic/Likely pathogenic	11	78180350	78180350	A	T	criteria provided, multiple submitters, no conflicts	OMIM:612803.0003
single nucleotide variant	NM_024678.6(NARS2):c.1142A>G (p.Asn381Ser)	NARS2	Likely pathogenic	11	78176944	78176944	T	C	criteria provided, single submitter	OMIM:612803.0004
single nucleotide variant	NM_024678.6(NARS2):c.637G>T (p.Val213Phe)	NARS2	Likely pathogenic	11	78239940	78239940	C	A	criteria provided, single submitter	OMIM:612803.0005
single nucleotide variant	NM_004004.6(GJB2):c.299A>T (p.His100Leu)	GJB2	Likely pathogenic	13	20763422	20763422	T	A	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_006613.4(GRAP):c.311A>T (p.Gln104Leu)	GRAP	Likely pathogenic	17	18927685	18927685	T	A	criteria provided, single submitter	OMIM:604330.0001
Deletion	NM_080680.3(COL11A2):c.2754del (p.Gly919fs)	COL11A2	Likely pathogenic	6	33140873	33140873	CG	C	criteria provided, single submitter	-
Deletion	NM_194248.3(OTOF):c.4490_4491del (p.Tyr1497fs)	OTOF	Likely pathogenic	2	26689591	26689592	CAT	C	criteria provided, single submitter	-
single nucleotide variant	NM_194248.3(OTOF):c.4362+1G>C	OTOF	Pathogenic	2	26689966	26689966	C	G	criteria provided, single submitter	-

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