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
Duplication	NM_000321.2(RB1):c.1402_1412dup (p.Gln471Hisfs)	RB1	Pathogenic	13	48954199	48954200	G	GATTATCCATTC	criteria provided, single submitter	ClinGen:CA275022
single nucleotide variant	NM_000321.3(RB1):c.1696-1G>A	RB1	Pathogenic	13	49027128	49027128	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA026395
single nucleotide variant	NM_000321.3(RB1):c.2370C>A (p.Tyr790Ter)	RB1	Pathogenic	13	49039385	49039385	C	A	criteria provided, single submitter	ClinGen:CA026439
single nucleotide variant	NM_000321.3(RB1):c.297G>A (p.Trp99Ter)	RB1	Pathogenic	13	48916767	48916767	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA026447
single nucleotide variant	NM_000321.3(RB1):c.1154T>G (p.Leu385Ter)	RB1	Pathogenic	13	48947567	48947567	T	G	criteria provided, single submitter	ClinGen:CA10583158
single nucleotide variant	NM_000321.3(RB1):c.1814+3A>C	RB1	Pathogenic	13	49027250	49027250	A	C	criteria provided, single submitter	ClinGen:CA10583159
single nucleotide variant	NM_000321.3(RB1):c.2053C>T (p.Gln685Ter)	RB1	Pathogenic	13	49033916	49033916	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA10583160
Deletion	NM_000321.3(RB1):c.376del (p.Ile126fs)	RB1	Pathogenic	13	48916844	48916844	GA	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA10604120
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
single nucleotide variant	NM_000321.3(RB1):c.1510C>T (p.Gln504Ter)	RB1	Pathogenic	13	48955394	48955394	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA10605288

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