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
Deletion	NM_007294.4(BRCA1):c.2411del (p.Gln804fs)	BRCA1	Pathogenic	17	41245137	41245137	CT	C	reviewed by expert panel	ClinGen:CA10589855
Deletion	NM_007294.4(BRCA1):c.2396del (p.Asn799fs)	BRCA1	Pathogenic	17	41245152	41245152	AT	A	reviewed by expert panel	ClinGen:CA10589856
Duplication	NM_007294.4(BRCA1):c.2387dup (p.Glu797fs)	BRCA1	Pathogenic	17	41245160	41245161	T	TG	reviewed by expert panel	ClinGen:CA10589857
Deletion	NM_007294.4(BRCA1):c.2368_2369del (p.Thr790fs)	BRCA1	Pathogenic	17	41245179	41245180	AGT	A	reviewed by expert panel	ClinGen:CA10589858
Deletion	NM_007294.4(BRCA1):c.2361del (p.Val788fs)	BRCA1	Pathogenic	17	41245187	41245187	CT	C	reviewed by expert panel	ClinGen:CA10589859
Duplication	NM_007294.4(BRCA1):c.2346dup (p.Ile783fs)	BRCA1	Pathogenic	17	41245201	41245202	T	TA	reviewed by expert panel	ClinGen:CA10589860
Deletion	NM_007294.4(BRCA1):c.2340_2343del (p.Glu781fs)	BRCA1	Pathogenic	17	41245205	41245208	TTTCC	T	reviewed by expert panel	ClinGen:CA10589861
single nucleotide variant	NM_007294.4(BRCA1):c.2331T>G (p.Tyr777Ter)	BRCA1	Pathogenic	17	41245217	41245217	A	C	reviewed by expert panel	ClinGen:CA10589862
Deletion	NM_007294.4(BRCA1):c.2322del (p.Thr775fs)	BRCA1	Pathogenic	17	41245226	41245226	TA	T	reviewed by expert panel	ClinGen:CA10589863
Deletion	NM_007294.4(BRCA1):c.2314_2315del (p.Val772fs)	BRCA1	Pathogenic	17	41245233	41245234	TAC	T	reviewed by expert panel	ClinGen:CA10589864

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