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
single nucleotide variant	NM_000321.3(RB1):c.2134T>C (p.Cys712Arg)	RB1	Pathogenic/Likely pathogenic	13	49037894	49037894	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA026423,UniProtKB:P06400#VAR_005587,OMIM:614041.0024
single nucleotide variant	NM_000321.3(RB1):c.607+1G>T	RB1	Pathogenic	13	48923160	48923160	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA026463,OMIM:614041.0025
single nucleotide variant	NM_000321.3(RB1):c.1818T>A (p.Tyr606Ter)	RB1	Pathogenic	13	49030343	49030343	T	A	criteria provided, single submitter	ClinGen:CA026402,OMIM:614041.0026
single nucleotide variant	NM_000321.3(RB1):c.2490-1398A>G	RB1	Pathogenic	13	49046098	49046098	A	G	criteria provided, single submitter	ClinGen:CA026441,OMIM:614041.0028
single nucleotide variant	NM_000321.3(RB1):c.1399C>T (p.Arg467Ter)	RB1	Pathogenic	13	48954198	48954198	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA026376
Duplication	NM_000321.3(RB1):c.1585dup (p.Tyr529fs)	RB1	Pathogenic	13	48955464	48955465	A	AT	criteria provided, single submitter	ClinGen:CA026382
Indel	NM_000321.3(RB1):c.2067_2079delinsCAC (p.Gln689fs)	RB1	Pathogenic	13	49033930	49033942	GAATGAGTATGAA	CAC	criteria provided, single submitter	ClinGen:CA026419
single nucleotide variant	NM_000321.3(RB1):c.1960G>A (p.Val654Met)	RB1	Pathogenic	13	49030485	49030485	G	A	criteria provided, single submitter	ClinGen:CA026413
single nucleotide variant	NM_000321.3(RB1):c.1723C>T (p.Gln575Ter)	RB1	Pathogenic	13	49027156	49027156	C	T	criteria provided, single submitter	ClinGen:CA026397
single nucleotide variant	NM_000321.3(RB1):c.1735C>T (p.Arg579Ter)	RB1	Pathogenic	13	49027168	49027168	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA026398

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