網膜色素変性症 - MGenReviews

網膜色素変性症

小児・神経疾患

疾患の紹介

病的バリアントリスト

Excelでダウンロード

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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_182916.3(TRNT1):c.865del (p.Ser289fs)	TRNT1	Pathogenic	3	3189192	3189192	GT	G	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_001142800.2(EYS):c.9036del (p.Leu3013fs)	EYS	Pathogenic	6	64430891	64430891	GA	G	criteria provided, multiple submitters, no conflicts	-
Duplication	NM_001142800.2(EYS):c.6791dup (p.Pro2265fs)	EYS	Pathogenic	6	64709010	64709011	A	AG	criteria provided, single submitter	-
Deletion	NM_001142800.2(EYS):c.6102del (p.Phe2034fs)	EYS	Pathogenic	6	65016952	65016952	TA	T	criteria provided, single submitter	-
Insertion	NM_001142800.2(EYS):c.4116_4117insGC (p.Ile1373fs)	EYS	Pathogenic	6	65301643	65301644	T	TGC	criteria provided, single submitter	-
single nucleotide variant	NM_001142800.2(EYS):c.2380C>T (p.Arg794Ter)	EYS	Pathogenic	6	65655687	65655687	G	A	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_001142800.2(EYS):c.1426C>T (p.Gln476Ter)	EYS	Pathogenic	6	66063384	66063384	G	A	criteria provided, single submitter	-
Deletion	NM_001142800.2(EYS):c.361del (p.Glu121fs)	EYS	Pathogenic	6	66204943	66204943	TC	T	criteria provided, single submitter	-
single nucleotide variant	NM_152419.3(HGSNAT):c.164T>A (p.Leu55Ter)	HGSNAT	Pathogenic	8	43002136	43002136	T	A	criteria provided, single submitter	-
single nucleotide variant	NM_152443.3(RDH12):c.481C>T (p.Arg161Trp)	RDH12	Pathogenic	14	68193730	68193730	C	T	criteria provided, single submitter	-

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