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_004208.4(AIFM1):c.1265G>A (p.Arg422Gln)	AIFM1	Pathogenic	X	129270060	129270060	C	T	criteria provided, single submitter	ClinGen:CA175068,UniProtKB:O95831#VAR_076214,OMIM:300169.0007
single nucleotide variant	NM_004208.4(AIFM1):c.1264C>T (p.Arg422Trp)	AIFM1	Pathogenic/Likely pathogenic	X	129270061	129270061	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA175066,UniProtKB:O95831#VAR_076215,OMIM:300169.0006
Deletion	NM_013296.5(GPSM2):c.459_460del (p.Ala154fs)	GPSM2	Likely pathogenic	1	109440625	109440626	ATG	A	criteria provided, single submitter	ClinGen:CA185685
Deletion	NM_004700.4(KCNQ4):c.459del (p.Ala154fs)	KCNQ4	Pathogenic	1	41283888	41283888	TC	T	criteria provided, single submitter	ClinGen:CA273581
single nucleotide variant	NM_194248.3(OTOF):c.5374C>T (p.Arg1792Cys)	OTOF	Likely pathogenic	2	26684723	26684723	G	A	reviewed by expert panel	ClinGen:CA182451
Deletion	NM_194248.3(OTOF):c.3178del (p.Ala1060fs)	OTOF	Pathogenic	2	26697491	26697491	GC	G	criteria provided, single submitter	ClinGen:CA273582
single nucleotide variant	NM_194248.3(OTOF):c.2991+2T>G	OTOF	Pathogenic	2	26698780	26698780	A	C	criteria provided, single submitter	ClinGen:CA273547
single nucleotide variant	NM_194248.3(OTOF):c.2818C>T (p.Gln940Ter)	OTOF	Pathogenic	2	26699044	26699044	G	A	criteria provided, single submitter	ClinGen:CA273636
Deletion	NM_194248.3(OTOF):c.5203del (p.Arg1735fs)	OTOF	Pathogenic	2	26685039	26685039	CG	C	criteria provided, single submitter	ClinGen:CA273211
single nucleotide variant	NM_194248.3(OTOF):c.4799+1G>A	OTOF	Pathogenic	2	26688539	26688539	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA273212

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