遺伝性乳がん・卵巣がん症候群 - MGenReviews

遺伝性乳がん・卵巣がん症候群

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.7363del (p.His2455fs)	BRCA2	Pathogenic	13	32929353	32929353	TC	T	reviewed by expert panel	ClinGen:CA10589424
Deletion	NM_000059.4(BRCA2):c.7368_7371del (p.Phe2457fs)	BRCA2	Pathogenic	13	32929358	32929361	AGTTT	A	reviewed by expert panel	ClinGen:CA10589425
Deletion	NM_000059.4(BRCA2):c.7389_7392del (p.Asn2463fs)	BRCA2	Pathogenic	13	32929376	32929379	CCAAT	C	reviewed by expert panel	ClinGen:CA10589426
Deletion	NM_000059.4(BRCA2):c.7425del (p.Glu2476fs)	BRCA2	Pathogenic	13	32929414	32929414	GA	G	reviewed by expert panel	ClinGen:CA10589427
Duplication	NM_000059.4(BRCA2):c.7434dup (p.Asp2479fs)	BRCA2	Pathogenic	13	32929423	32929424	T	TA	reviewed by expert panel	ClinGen:CA10589428
Deletion	NM_000059.4(BRCA2):c.7469del (p.Ile2490fs)	BRCA2	Pathogenic	13	32930598	32930598	AT	A	reviewed by expert panel	ClinGen:CA10589429
Duplication	NM_000059.4(BRCA2):c.7485dup (p.Lys2496Ter)	BRCA2	Pathogenic	13	32930612	32930613	A	AT	reviewed by expert panel	ClinGen:CA10589430
single nucleotide variant	NM_000059.4(BRCA2):c.7495C>T (p.Gln2499Ter)	BRCA2	Pathogenic	13	32930624	32930624	C	T	reviewed by expert panel	ClinGen:CA10589431
single nucleotide variant	NM_000059.4(BRCA2):c.7501C>T (p.Gln2501Ter)	BRCA2	Pathogenic	13	32930630	32930630	C	T	reviewed by expert panel	ClinGen:CA10589432
Deletion	NM_000059.4(BRCA2):c.7503_7506del (p.Arg2502fs)	BRCA2	Pathogenic	13	32930632	32930635	AACGC	A	reviewed by expert panel	ClinGen:CA10589433

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