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_004100.5(EYA4):c.316del (p.Ser106fs)	EYA4	Pathogenic	6	133777732	133777732	CA	C	criteria provided, single submitter	ClinGen:CA658796831
single nucleotide variant	NM_022124.6(CDH23):c.3241C>T (p.Arg1081Ter)	CDH23	Pathogenic	10	73472442	73472442	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA209465100
Duplication	NM_000260.4(MYO7A):c.1623dup (p.Lys542fs)	MYO7A	Pathogenic	11	76873960	76873961	T	TC	criteria provided, multiple submitters, no conflicts	ClinGen:CA6197531
Insertion	NM_016239.4(MYO15A):c.406_407insAGTT (p.Trp136Ter)	MYO15A	Pathogenic	17	18022519	18022520	C	CTAGT	criteria provided, single submitter	ClinGen:CA658798736
Duplication	NM_016239.4(MYO15A):c.1661dup (p.Leu555fs)	MYO15A	Pathogenic	17	18023771	18023772	C	CG	criteria provided, single submitter	ClinGen:CA658798738
single nucleotide variant	NM_016239.4(MYO15A):c.4547T>G (p.Leu1516Arg)	MYO15A	Likely pathogenic	17	18039089	18039089	T	G	criteria provided, single submitter	ClinGen:CA398594504
Duplication	NM_016239.4(MYO15A):c.6440dup (p.Trp2148fs)	MYO15A	Pathogenic	17	18049348	18049349	C	CG	criteria provided, single submitter	ClinGen:CA658798728
Indel	NM_001124758.2(SPNS2):c.c.1066_1067delinsT (p.Pro356Cysfs)	SPNS2	Likely pathogenic	17	4436402	4436403	CC	T	criteria provided, single submitter	ClinGen:CA658798680,OMIM:612584.0001
single nucleotide variant	NM_001614.5(ACTG1):c.1004G>A (p.Arg335His)	ACTG1	Pathogenic/Likely pathogenic	17	79477840	79477840	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA401458580
single nucleotide variant	NM_001614.5(ACTG1):c.206A>G (p.Tyr69Cys)	ACTG1	Likely pathogenic	17	79479086	79479086	T	C	criteria provided, single submitter	ClinGen:CA401463179

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