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_007294.4(BRCA1):c.2906del (p.Asn969fs)	BRCA1	Pathogenic	17	41244642	41244642	AT	A	reviewed by expert panel	ClinGen:CA10589798
Insertion	NM_007294.4(BRCA1):c.2903_2904insTC (p.Asn969fs)	BRCA1	Pathogenic	17	41244644	41244645	T	TGA	reviewed by expert panel	ClinGen:CA10589799
single nucleotide variant	NM_007294.4(BRCA1):c.2890G>T (p.Gly964Ter)	BRCA1	Pathogenic	17	41244658	41244658	C	A	reviewed by expert panel	ClinGen:CA10589800
Deletion	NM_007294.4(BRCA1):c.2882del (p.Asn961fs)	BRCA1	Pathogenic	17	41244666	41244666	GT	G	reviewed by expert panel	ClinGen:CA10589801
Deletion	NM_007294.4(BRCA1):c.2878_2879del (p.Gly960fs)	BRCA1	Pathogenic	17	41244669	41244670	GCC	G	reviewed by expert panel	ClinGen:CA10589802
Deletion	NM_007294.4(BRCA1):c.2875del (p.Arg959fs)	BRCA1	Pathogenic	17	41244673	41244673	CT	C	reviewed by expert panel	ClinGen:CA10589803
single nucleotide variant	NM_007294.4(BRCA1):c.2864C>G (p.Ser955Ter)	BRCA1	Pathogenic	17	41244684	41244684	G	C	reviewed by expert panel	ClinGen:CA10589804
Deletion	NM_007294.4(BRCA1):c.2861_2864del (p.Leu954fs)	BRCA1	Pathogenic	17	41244684	41244687	TGATA	T	reviewed by expert panel	ClinGen:CA10589805
Duplication	NM_007294.4(BRCA1):c.2861dup (p.Ser955fs)	BRCA1	Pathogenic	17	41244686	41244687	T	TA	reviewed by expert panel	ClinGen:CA10589806
Insertion	NM_007294.4(BRCA1):c.2850_2851insC (p.Arg951fs)	BRCA1	Pathogenic	17	41244697	41244698	T	TG	reviewed by expert panel	ClinGen:CA10589807

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