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_006005.3(WFS1):c.873C>G (p.Tyr291Ter)	WFS1	Pathogenic	4	6302395	6302395	C	G	criteria provided, single submitter	ClinGen:CA276989
single nucleotide variant	NM_006005.3(WFS1):c.2369C>A (p.Ser790Ter)	WFS1	Pathogenic	4	6303891	6303891	C	A	criteria provided, single submitter	ClinGen:CA277064
Deletion	NM_004004.6(GJB2):c.314_329del (p.Lys105fs)	GJB2	Pathogenic	13	20763392	20763407	CTCCCCCTTGATGAACT	C	criteria provided, single submitter	ClinGen:CA277273
single nucleotide variant	NM_153700.2(STRC):c.4351C>T (p.Arg1451Ter)	STRC	Pathogenic/Likely pathogenic	15	43896218	43896218	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA277233
single nucleotide variant	NM_033109.5(PNPT1):c.2014-3C>G	PNPT1	Likely pathogenic	2	55870351	55870351	G	C	criteria provided, single submitter	OMIM:610316.0011
single nucleotide variant	NM_033109.5(PNPT1):c.1453A>G (p.Met485Val)	PNPT1	Likely pathogenic	2	55882077	55882077	T	C	criteria provided, single submitter	ClinGen:CA320114,OMIM:610316.0016
single nucleotide variant	NM_033109.5(PNPT1):c.394C>T (p.Arg132Ter)	PNPT1	Pathogenic/Likely pathogenic	2	55912087	55912087	G	A	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_006005.3(WFS1):c.505G>A (p.Glu169Lys)	WFS1	Pathogenic/Likely pathogenic	4	6292968	6292968	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA321089,UniProtKB:O76024#VAR_009109
single nucleotide variant	NM_006005.3(WFS1):c.631G>A (p.Asp211Asn)	WFS1	Pathogenic/Likely pathogenic	4	6293094	6293094	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA320894
Deletion	NM_006005.3(WFS1):c.1243_1245del (p.Val415del)	WFS1	Pathogenic	4	6302763	6302765	TTCG	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA324375,OMIM:606201.0029

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