ウィルムス腫瘍 - MGenReviews

ウィルムス腫瘍

腫瘍性疾患

疾患の紹介

病的バリアントリスト

Excelでダウンロード

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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_000059.4(BRCA2):c.1758_1759del (p.Lys586fs)	BRCA2	Pathogenic	13	32907371	32907372	GAA	G	criteria provided, single submitter	-
Deletion	NM_000059.4(BRCA2):c.2122del (p.Ser708fs)	BRCA2	Pathogenic	13	32910613	32910613	AT	A	criteria provided, single submitter	-
Deletion	NM_000059.4(BRCA2):c.3531_3532del (p.Asp1177fs)	BRCA2	Pathogenic	13	32912022	32912023	GAC	G	criteria provided, single submitter	-
Deletion	NM_000059.4(BRCA2):c.3880_3884del (p.Leu1294fs)	BRCA2	Pathogenic	13	32912371	32912375	TATTAC	T	criteria provided, single submitter	-
single nucleotide variant	NM_000059.4(BRCA2):c.4363G>T (p.Glu1455Ter)	BRCA2	Pathogenic	13	32912855	32912855	G	T	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_000059.4(BRCA2):c.4592_4593del (p.Lys1531fs)	BRCA2	Pathogenic	13	32913080	32913081	GAA	G	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_000059.4(BRCA2):c.4859_4878del (p.Leu1620fs)	BRCA2	Pathogenic	13	32913350	32913369	TTTATGTAGACAAACTGAAAA	T	criteria provided, single submitter	-
Deletion	NM_000059.4(BRCA2):c.5189del (p.Asn1730fs)	BRCA2	Pathogenic	13	32913677	32913677	CA	C	criteria provided, multiple submitters, no conflicts	-
Duplication	NM_000059.4(BRCA2):c.5212dup (p.Thr1738fs)	BRCA2	Pathogenic	13	32913703	32913704	T	TA	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_000059.4(BRCA2):c.6195del (p.Val2066fs)	BRCA2	Pathogenic	13	32914686	32914686	CA	C	criteria provided, single submitter	-

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