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_004004.6(GJB2):c.370C>T (p.Gln124Ter)	GJB2	Pathogenic	13	20763351	20763351	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA261645
single nucleotide variant	NM_004004.6(GJB2):c.426C>A (p.Phe142Leu)	GJB2	Pathogenic	13	20763295	20763295	G	T	criteria provided, single submitter	ClinGen:CA261647
single nucleotide variant	NM_004004.6(GJB2):c.44A>C (p.Lys15Thr)	GJB2	Pathogenic/Likely pathogenic	13	20763677	20763677	T	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA261649
single nucleotide variant	NM_004004.6(GJB2):c.456C>A (p.Tyr152Ter)	GJB2	Pathogenic/Likely pathogenic	13	20763265	20763265	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA261651
Indel	NM_004004.6(GJB2):c.592_600delinsCAGTGTTCATGACATTC (p.Val198_Gly200delinsGlnCysSerTer)	GJB2	Pathogenic/Likely pathogenic	13	20763121	20763129	TCCAGACAC	GAATGTCATGAACACTG	criteria provided, multiple submitters, no conflicts	ClinGen:CA261653
single nucleotide variant	NM_004004.6(GJB2):c.617A>G (p.Asn206Ser)	GJB2	Pathogenic/Likely pathogenic	13	20763104	20763104	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA172236
single nucleotide variant	NM_004004.6(GJB2):c.95G>A (p.Arg32His)	GJB2	Pathogenic	13	20763626	20763626	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA261654,UniProtKB:P29033#VAR_023605
single nucleotide variant	NM_004004.6(GJB2):c.9G>A (p.Trp3Ter)	GJB2	Pathogenic/Likely pathogenic	13	20763712	20763712	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA261655
Duplication	NM_004999.4(MYO6):c.2111dup (p.Tyr705fs)	MYO6	Likely pathogenic	6	76589568	76589569	T	TG	criteria provided, single submitter	ClinGen:CA261711
single nucleotide variant	NM_006005.3(WFS1):c.2054G>C (p.Arg685Pro)	WFS1	Pathogenic	4	6303576	6303576	G	C	criteria provided, single submitter	ClinGen:CA261750,UniProtKB:O76024#VAR_074212

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