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.1049+1G>T	RB1	Likely pathogenic	13	48941740	48941740	G	T	criteria provided, single submitter	ClinGen:CA026361,OMIM:614041.0007
single nucleotide variant	NM_000321.3(RB1):c.1960+5G>A	RB1	Likely pathogenic	13	49030490	49030490	G	A	criteria provided, single submitter	ClinGen:CA026412
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	NC_000013.11:g.(?_48379594)_(48381443_?)del	RB1	Likely pathogenic	13	48953730	48955579	na	na	criteria provided, single submitter	-
single nucleotide variant	NM_000321.3(RB1):c.380G>A (p.Ser127Asn)	RB1	Likely pathogenic	13	48916850	48916850	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA388252575
single nucleotide variant	NM_000321.3(RB1):c.380G>C (p.Ser127Thr)	RB1	Likely pathogenic	13	48916850	48916850	G	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA388252576
single nucleotide variant	NM_000321.3(RB1):c.1389+4A>C	RB1	Likely pathogenic	13	48953790	48953790	A	C	criteria provided, single submitter	ClinGen:CA645369546
single nucleotide variant	NM_000321.3(RB1):c.1498+1G>A	RB1	Likely pathogenic	13	48954378	48954378	G	A	criteria provided, single submitter	ClinGen:CA388162927
single nucleotide variant	NM_000321.3(RB1):c.2107-1G>A	RB1	Likely pathogenic	13	49037866	49037866	G	A	criteria provided, single submitter	ClinGen:CA388166993
single nucleotide variant	NM_000321.3(RB1):c.1411C>T (p.Gln471Ter)	RB1	Likely pathogenic	13	48954210	48954210	C	T	criteria provided, single submitter	ClinGen:CA388162715

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