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.2520+5G>A	RB1	Pathogenic/Likely pathogenic	13	49047531	49047531	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA645369529
Duplication	NC_000013.10:g.(?_48916729)_(48942746_?)dup	RB1	Pathogenic	13	48916729	48942746	na	na	criteria provided, single submitter	-
single nucleotide variant	NM_000321.3(RB1):c.861G>C (p.Glu287Asp)	RB1	Pathogenic	13	48937093	48937093	G	C	criteria provided, single submitter	ClinGen:CA388159722
Deletion	NM_000321.3(RB1):c.1458del (p.Leu486fs)	RB1	Pathogenic	13	48954337	48954337	TA	T	criteria provided, single submitter	ClinGen:CA658656368
Deletion	NC_000013.11:g.(?_48307274)_(48349029_?)del	RB1	Pathogenic	13	48881410	48923165	na	na	criteria provided, single submitter	-
single nucleotide variant	NM_000321.3(RB1):c.940-1G>T	RB1	Pathogenic	13	48941629	48941629	G	T	criteria provided, single submitter	ClinGen:CA388160564
Duplication	NM_000321.3(RB1):c.1278dup (p.Lys427Ter)	RB1	Pathogenic	13	48951113	48951114	C	CT	criteria provided, single submitter	ClinGen:CA658656361
single nucleotide variant	NM_000321.3(RB1):c.2489+2T>C	RB1	Pathogenic	13	49039506	49039506	T	C	criteria provided, single submitter	ClinGen:CA388168096
Duplication	NM_000321.3(RB1):c.54_73dup (p.Pro25fs)	RB1	Pathogenic	13	48878094	48878095	G	GCCGCCGCGGAACCCCCGGCA	criteria provided, single submitter	ClinGen:CA658658234
single nucleotide variant	NM_000321.3(RB1):c.1333-2A>G	RB1	Pathogenic	13	48953728	48953728	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA388162526

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