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
Duplication	NM_000059.4(BRCA2):c.8669dup (p.Thr2891fs)	BRCA2	Pathogenic	13	32950842	32950843	C	CT	reviewed by expert panel	ClinGen:CA10589513
Insertion	NM_000059.4(BRCA2):c.8710_8711insAG (p.Leu2904fs)	BRCA2	Pathogenic	13	32950884	32950885	C	CAG	reviewed by expert panel	ClinGen:CA10589514
single nucleotide variant	NM_000059.4(BRCA2):c.8760T>G (p.Tyr2920Ter)	BRCA2	Pathogenic	13	32953459	32953459	T	G	reviewed by expert panel	ClinGen:CA10589515
single nucleotide variant	NM_000059.4(BRCA2):c.8777T>A (p.Leu2926Ter)	BRCA2	Pathogenic	13	32953476	32953476	T	A	reviewed by expert panel	ClinGen:CA10589516
Deletion	NM_000059.4(BRCA2):c.8798_8802del (p.Arg2933fs)	BRCA2	Pathogenic	13	32953496	32953500	CAGGCA	C	reviewed by expert panel	ClinGen:CA10589517
Deletion	NM_000059.4(BRCA2):c.8800del (p.Gln2934fs)	BRCA2	Pathogenic	13	32953499	32953499	GC	G	reviewed by expert panel	ClinGen:CA10589518
Deletion	NM_000059.4(BRCA2):c.8830del (p.Ile2944fs)	BRCA2	Pathogenic	13	32953529	32953529	GA	G	reviewed by expert panel	ClinGen:CA10589519
Duplication	NM_000059.4(BRCA2):c.8850_8851dup (p.Ala2951fs)	BRCA2	Pathogenic	13	32953548	32953549	A	AGG	reviewed by expert panel	ClinGen:CA10589520
Deletion	NM_000059.4(BRCA2):c.8887del (p.Ser2963fs)	BRCA2	Pathogenic	13	32953586	32953586	AT	A	reviewed by expert panel	ClinGen:CA10589521
single nucleotide variant	NM_000059.4(BRCA2):c.8888C>G (p.Ser2963Ter)	BRCA2	Pathogenic	13	32953587	32953587	C	G	reviewed by expert panel	ClinGen:CA10589522

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