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
Deletion	NM_000441.2(SLC26A4):c.1341+1del	SLC26A4	Pathogenic	7	107334925	107334925	AG	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA261410,OMIM:605646.0002
Duplication	NM_000441.1(SLC26A4):c.1342-2_1343dup	SLC26A4	Pathogenic	7	107335064	107335067	G	GCAGT	criteria provided, multiple submitters, no conflicts	ClinGen:CA261411
single nucleotide variant	NM_000441.2(SLC26A4):c.1437+2T>G	SLC26A4	Pathogenic/Likely pathogenic	7	107335163	107335163	T	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA261412
single nucleotide variant	NM_000441.2(SLC26A4):c.1541A>G (p.Gln514Arg)	SLC26A4	Pathogenic	7	107336481	107336481	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA261414,UniProtKB:O43511#VAR_027241
Insertion	NM_000441.2(SLC26A4):c.1548_1549insC (p.Ser517fs)	SLC26A4	Likely pathogenic	7	107338490	107338491	T	TC	criteria provided, single submitter	ClinGen:CA261415
single nucleotide variant	NM_000441.2(SLC26A4):c.1614+1G>A	SLC26A4	Pathogenic	7	107338557	107338557	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA261416
single nucleotide variant	NM_000441.2(SLC26A4):c.164+2T>C	SLC26A4	Pathogenic	7	107302252	107302252	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA261417
single nucleotide variant	NM_000441.2(SLC26A4):c.1694G>A (p.Cys565Tyr)	SLC26A4	Likely pathogenic	7	107340607	107340607	G	A	reviewed by expert panel	ClinGen:CA261418,UniProtKB:O43511#VAR_021674
single nucleotide variant	NM_000441.2(SLC26A4):c.1708G>A (p.Val570Ile)	SLC26A4	Likely pathogenic	7	107341546	107341546	G	A	reviewed by expert panel	ClinGen:CA132675
single nucleotide variant	NM_000441.2(SLC26A4):c.170C>G (p.Ser57Ter)	SLC26A4	Pathogenic/Likely pathogenic	7	107303746	107303746	C	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA261419

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