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

1
...
96
97
98
99
100
...
158

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.226C>T (p.Pro76Ser)	SLC26A4	Pathogenic	7	107303802	107303802	C	T	criteria provided, single submitter	ClinGen:CA368845431
single nucleotide variant	NM_000441.2(SLC26A4):c.601-1G>A	SLC26A4	Pathogenic	7	107315389	107315389	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA368830868
single nucleotide variant	NM_000441.2(SLC26A4):c.1174A>T (p.Asn392Tyr)	SLC26A4	Pathogenic	7	107330593	107330593	A	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA4432714
single nucleotide variant	NM_000441.2(SLC26A4):c.1579A>C (p.Thr527Pro)	SLC26A4	Pathogenic/Likely pathogenic	7	107338521	107338521	A	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA368841594
Duplication	NM_000441.2(SLC26A4):c.1651dup (p.Ser551fs)	SLC26A4	Pathogenic	7	107340560	107340561	A	AT	criteria provided, multiple submitters, no conflicts	ClinGen:CA16020693
single nucleotide variant	NM_000441.2(SLC26A4):c.1667A>G (p.Tyr556Cys)	SLC26A4	Pathogenic/Likely pathogenic	7	107340580	107340580	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA4432905
single nucleotide variant	NM_000441.2(SLC26A4):c.1707+5G>A	SLC26A4	Pathogenic	7	107340625	107340625	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA4432913
Deletion	NM_000441.2(SLC26A4):c.1708-27_1708-11del	SLC26A4	Likely pathogenic	7	107341514	107341530	GCATTTTAAGTAACTTGA	G	criteria provided, single submitter	ClinGen:CA658655999
single nucleotide variant	NM_000441.2(SLC26A4):c.2007C>A (p.Asp669Glu)	SLC26A4	Pathogenic	7	107342475	107342475	C	A	criteria provided, single submitter	ClinGen:CA368843815
single nucleotide variant	NM_000441.2(SLC26A4):c.2074T>C (p.Phe692Leu)	SLC26A4	Pathogenic	7	107344815	107344815	T	C	criteria provided, single submitter	ClinGen:CA368844476

1
...
96
97
98
99
100
...
158