家族性膵がん - MGenReviews

家族性膵がん

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_007294.4(BRCA1):c.2959A>T (p.Lys987Ter)	BRCA1	Pathogenic	17	41244589	41244589	T	A	reviewed by expert panel	ClinGen:CA10589794
Deletion	NM_007294.4(BRCA1):c.2951_2952del (p.Phe984fs)	BRCA1	Pathogenic	17	41244596	41244597	GAA	G	reviewed by expert panel	ClinGen:CA10589795
Deletion	NM_007294.4(BRCA1):c.2917_2920del (p.Leu973fs)	BRCA1	Pathogenic	17	41244628	41244631	AAAAG	A	reviewed by expert panel	ClinGen:CA10589796
Indel	NM_007294.4(BRCA1):c.2906_2908delinsCT (p.Asn969fs)	BRCA1	Pathogenic	17	41244640	41244642	TAT	AG	reviewed by expert panel	ClinGen:CA10589797
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

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