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
single nucleotide variant	NM_000059.4(BRCA2):c.889G>T (p.Glu297Ter)	BRCA2	Pathogenic	13	32906504	32906504	G	T	reviewed by expert panel	ClinGen:CA10585891
Deletion	NM_000059.4(BRCA2):c.3422del (p.Thr1141fs)	BRCA2	Pathogenic	13	32911914	32911914	AC	A	reviewed by expert panel	ClinGen:CA10585893
single nucleotide variant	NM_000059.4(BRCA2):c.3883C>T (p.Gln1295Ter)	BRCA2	Pathogenic	13	32912375	32912375	C	T	reviewed by expert panel	ClinGen:CA10585895
Deletion	NM_000059.4(BRCA2):c.6815_6816del (p.Arg2272fs)	BRCA2	Pathogenic	13	32915306	32915307	AAG	A	reviewed by expert panel	ClinGen:CA10585897
Deletion	NM_000059.4(BRCA2):c.6980del (p.Ser2326_Leu2327insTer)	BRCA2	Pathogenic	13	32921004	32921004	CT	C	reviewed by expert panel	ClinGen:CA10585898
Duplication	NM_000059.4(BRCA2):c.378dup (p.Ala127fs)	BRCA2	Pathogenic	13	32899272	32899273	C	CA	reviewed by expert panel	ClinGen:CA10585925
Deletion	NM_000059.4(BRCA2):c.1057del (p.Ser353fs)	BRCA2	Pathogenic	13	32906672	32906672	CT	C	reviewed by expert panel	ClinGen:CA10585926
Indel	NM_000059.3(BRCA2):c.1114_1117delinsCATT (p.Asn372_Gln373delinsHisTer)	BRCA2	Pathogenic	13	32906729	32906732	AATC	CATT	criteria provided, single submitter	ClinGen:CA10585927
Deletion	NM_000059.4(BRCA2):c.1306_1307del (p.Lys436fs)	BRCA2	Pathogenic	13	32906920	32906921	GAA	G	reviewed by expert panel	ClinGen:CA10585928
single nucleotide variant	NM_000059.4(BRCA2):c.1588A>T (p.Lys530Ter)	BRCA2	Pathogenic	13	32907203	32907203	A	T	reviewed by expert panel	ClinGen:CA10585929

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