網膜芽細胞腫 - MGenReviews

網膜芽細胞腫

腫瘍性疾患

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	NC_000013.11:g.(?_48303903)_(48480081_?)del	RB1	Pathogenic	13	48878039	49054217	na	na	criteria provided, single submitter	-
Deletion	NC_000013.11:g.(?_48303907)_(48480077_?)del	RB1	Pathogenic	13	48878043	49054213	na	na	criteria provided, single submitter	-
Deletion	NC_000013.11:g.(?_48476691)_(48477414_?)del	RB1	Pathogenic	13	49050827	49051550	na	na	criteria provided, single submitter	-
single nucleotide variant	NM_000321.3(RB1):c.2663+2T>C	RB1	Pathogenic	13	49050981	49050981	T	C	criteria provided, single submitter	ClinGen:CA026445
single nucleotide variant	NM_000321.3(RB1):c.2663G>A (p.Ser888Asn)	RB1	Likely pathogenic	13	49050979	49050979	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA388157668
single nucleotide variant	NM_000321.3(RB1):c.2548C>T (p.Gln850Ter)	RB1	Pathogenic	13	49050864	49050864	C	T	criteria provided, single submitter	ClinGen:CA10604891
Deletion	NM_000321.3(RB1):c.2525_2526del (p.Thr841_Ser842insTer)	RB1	Pathogenic	13	49050840	49050841	TTC	T	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000321.3(RB1):c.2520+5G>T	RB1	Pathogenic	13	49047531	49047531	G	T	criteria provided, single submitter	-
single nucleotide variant	NM_000321.3(RB1):c.2520+5G>A	RB1	Pathogenic/Likely pathogenic	13	49047531	49047531	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA645369529
Deletion	NM_000321.3(RB1):c.2520+3_2520+6del	RB1	Pathogenic	13	49047527	49047530	GGTGA	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA645369528

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