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_000307.5(POU3F4):c.695T>C (p.Ile232Thr)	POU3F4	Likely pathogenic	X	82764027	82764027	T	C	criteria provided, single submitter	ClinGen:CA261366
Deletion	NM_000307.5(POU3F4):c.853_854del (p.Ile285fs)	POU3F4	Pathogenic	X	82764185	82764186	CAT	C	criteria provided, single submitter	ClinGen:CA261368
single nucleotide variant	NM_000441.2(SLC26A4):c.1149+3A>G	SLC26A4	Pathogenic	7	107329648	107329648	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA261397
Deletion	NM_000441.2(SLC26A4):c.1198del (p.Cys400fs)	SLC26A4	Pathogenic/Likely pathogenic	7	107330616	107330616	CT	C	criteria provided, multiple submitters, no conflicts	OMIM:605646.0003,OMIM:605646.0020,ClinGen:CA261399
single nucleotide variant	NM_000441.2(SLC26A4):c.1204G>A (p.Val402Met)	SLC26A4	Pathogenic	7	107330623	107330623	G	A	reviewed by expert panel	ClinGen:CA261400,UniProtKB:O43511#VAR_058580
single nucleotide variant	NM_000441.2(SLC26A4):c.1226G>A (p.Arg409His)	SLC26A4	Pathogenic/Likely pathogenic	7	107330645	107330645	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA261401,UniProtKB:O43511#VAR_021659
single nucleotide variant	NM_000441.2(SLC26A4):c.1226G>C (p.Arg409Pro)	SLC26A4	Likely pathogenic	7	107330645	107330645	G	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA261402,UniProtKB:O43511#VAR_021660
single nucleotide variant	NM_000441.2(SLC26A4):c.1229C>T (p.Thr410Met)	SLC26A4	Pathogenic	7	107330648	107330648	C	T	reviewed by expert panel	ClinGen:CA261403,UniProtKB:O43511#VAR_021661
single nucleotide variant	NM_000441.2(SLC26A4):c.1264-1G>C	SLC26A4	Pathogenic/Likely pathogenic	7	107334847	107334847	G	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA261405
single nucleotide variant	NM_000441.2(SLC26A4):c.1336C>T (p.Gln446Ter)	SLC26A4	Pathogenic/Likely pathogenic	7	107334920	107334920	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA261408

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