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

Excelでダウンロード

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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_000441.2(SLC26A4):c.1263+1G>T	SLC26A4	Pathogenic/Likely pathogenic	7	107330683	107330683	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA16041110
single nucleotide variant	NM_000441.2(SLC26A4):c.1341+1G>C	SLC26A4	Pathogenic	7	107334926	107334926	G	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA4432778
single nucleotide variant	NM_000441.2(SLC26A4):c.1342-1G>T	SLC26A4	Likely pathogenic	7	107335065	107335065	G	T	criteria provided, single submitter	ClinGen:CA16041111
single nucleotide variant	NM_000441.2(SLC26A4):c.1438-2A>G	SLC26A4	Likely pathogenic	7	107336376	107336376	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA16041112
Deletion	NM_000441.2(SLC26A4):c.1539_1544+6del	SLC26A4	Likely pathogenic	7	107336475	107336486	AGAGTTCAGTTGT	A	criteria provided, single submitter	ClinGen:CA16041113
single nucleotide variant	NM_000441.2(SLC26A4):c.1595G>T (p.Ser532Ile)	SLC26A4	Pathogenic/Likely pathogenic	7	107338537	107338537	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA16041114
single nucleotide variant	NM_000441.2(SLC26A4):c.1949T>A (p.Val650Asp)	SLC26A4	Likely pathogenic	7	107342417	107342417	T	A	criteria provided, single submitter	ClinGen:CA16041115
Deletion	NM_000441.2(SLC26A4):c.1966del (p.His656fs)	SLC26A4	Likely pathogenic	7	107342433	107342433	TC	T	criteria provided, single submitter	ClinGen:CA16041116
Deletion	NM_000441.2(SLC26A4):c.2067del (p.Asn689fs)	SLC26A4	Likely pathogenic	7	107344808	107344808	AT	A	criteria provided, single submitter	ClinGen:CA16041117
single nucleotide variant	NM_000441.2(SLC26A4):c.2228T>A (p.Leu743Ter)	SLC26A4	Pathogenic	7	107350637	107350637	T	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA16041118

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