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_001034853.2(RPGR):c.1377_1378del (p.Leu460fs)	RPGR	Pathogenic/Likely pathogenic	X	38156573	38156574	AAG	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA226358
single nucleotide variant	NM_001034853.2(RPGR):c.154G>T (p.Gly52Ter)	RPGR	Pathogenic	X	38182652	38182652	C	A	criteria provided, single submitter	ClinGen:CA226368
single nucleotide variant	NM_001034853.2(RPGR):c.1573-1G>A	RPGR	Pathogenic	X	38147295	38147295	C	T	criteria provided, single submitter	ClinGen:CA226370
single nucleotide variant	NM_001034853.2(RPGR):c.1573-2A>G	RPGR	Pathogenic	X	38147296	38147296	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA226371
single nucleotide variant	NM_001034853.2(RPGR):c.1573-8A>G	RPGR	Likely pathogenic	X	38147302	38147302	T	C	criteria provided, single submitter	ClinGen:CA226372
single nucleotide variant	NM_001034853.2(RPGR):c.248-2A>G	RPGR	Pathogenic	X	38180344	38180344	T	C	criteria provided, single submitter	ClinGen:CA226394
single nucleotide variant	NM_001034853.2(RPGR):c.28+1G>A	RPGR	Pathogenic	X	38186592	38186592	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA226400
single nucleotide variant	NM_001034853.2(RPGR):c.28+5G>A	RPGR	Likely pathogenic	X	38186588	38186588	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA226401
Deletion	NM_001034853.2(RPGR):c.372del (p.Glu125fs)	RPGR	Pathogenic	X	38178179	38178179	CG	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA226415
Deletion	NM_001034853.2(RPGR):c.485_486del (p.Phe162fs)	RPGR	Pathogenic	X	38176702	38176703	TAA	T	criteria provided, single submitter	ClinGen:CA226423

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