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	NM_000321.3(RB1):c.1024del (p.Thr342fs)	RB1	Pathogenic	13	48941711	48941711	TA	T	criteria provided, single submitter	ClinGen:CA026358
single nucleotide variant	NM_000321.3(RB1):c.1049+1G>A	RB1	Pathogenic/Likely pathogenic	13	48941740	48941740	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA026360
single nucleotide variant	NM_000321.3(RB1):c.1216-1G>A	RB1	Pathogenic	13	48951053	48951053	G	A	criteria provided, single submitter	ClinGen:CA026368
single nucleotide variant	NM_000321.3(RB1):c.1332+1G>A	RB1	Pathogenic	13	48951171	48951171	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA026369
single nucleotide variant	NM_000321.3(RB1):c.1363C>T (p.Arg455Ter)	RB1	Pathogenic	13	48953760	48953760	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA026373
Deletion	NM_000321.3(RB1):c.1456_1457del (p.Leu486fs)	RB1	Pathogenic	13	48954334	48954335	CTT	C	criteria provided, single submitter	ClinGen:CA026378
single nucleotide variant	NM_000321.3(RB1):c.1654C>T (p.Arg552Ter)	RB1	Pathogenic	13	48955538	48955538	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA026383
Deletion	NM_000321.3(RB1):c.1421+12_1421+32del	RB1	Likely pathogenic	13	48954223	48954243	TAAATTTTTTACTTTTAGTAAA	T	criteria provided, single submitter	ClinGen:CA269950
Deletion	NM_000321.3(RB1):c.54_79del (p.Glu19fs)	RB1	Pathogenic	13	48878094	48878119	TGCCGCCGCGGAACCCCCGGCACCGCC	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA026461
Deletion	NM_000321.3(RB1):c.1191del (p.Glu398fs)	RB1	Pathogenic	13	48947604	48947604	CA	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA026366

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