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_001384140.1(PCDH15):c.594+1G>T	PCDH15	Likely pathogenic	10	56106124	56106124	C	A	criteria provided, single submitter	ClinGen:CA16041377
Deletion	NM_001384140.1(PCDH15):c.416_444del (p.Asp139fs)	PCDH15	Likely pathogenic	10	56128910	56128938	GCTTGAAAGTGGGTGAGTTGTCATTCCTGT	G	criteria provided, single submitter	ClinGen:CA16041378
Deletion	NM_001384140.1(PCDH15):c.358_359del (p.Cys120fs)	PCDH15	Pathogenic/Likely pathogenic	10	56128995	56128996	GCA	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA16041379
Duplication	NM_001384140.1(PCDH15):c.333dup (p.His112fs)	PCDH15	Likely pathogenic	10	56129020	56129021	G	GT	criteria provided, single submitter	ClinGen:CA16041380
single nucleotide variant	NM_001384140.1(PCDH15):c.157+1G>C	PCDH15	Likely pathogenic	10	56287571	56287571	C	G	criteria provided, single submitter	ClinGen:CA16041381
single nucleotide variant	NM_153676.4(USH1C):c.496+1G>A	USH1C	Pathogenic	11	17548769	17548769	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA5905031,OMIM:605242.0006
single nucleotide variant	NM_153676.4(USH1C):c.463C>T (p.Arg155Ter)	USH1C	Pathogenic/Likely pathogenic	11	17548803	17548803	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA5905040
single nucleotide variant	NM_000260.4(MYO7A):c.2323C>T (p.Gln775Ter)	MYO7A	Pathogenic/Likely pathogenic	11	76890131	76890131	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA6197809
single nucleotide variant	NM_000260.4(MYO7A):c.3262C>T (p.Gln1088Ter)	MYO7A	Pathogenic/Likely pathogenic	11	76893622	76893622	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA6198014
Deletion	NM_004004.6(GJB2):c.564_565del (p.Lys188fs)	GJB2	Pathogenic/Likely pathogenic	13	20763156	20763157	GTC	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA6904235

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