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

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.1774_1777del (p.Tyr592fs)	BRCA2	Pathogenic	13	32907389	32907392	TTATG	T	reviewed by expert panel	ClinGen:CA10589117
Deletion	NM_000059.4(BRCA2):c.1787_1799del (p.Asp596fs)	BRCA2	Pathogenic	13	32907402	32907414	GATGAAACATCTTA	G	reviewed by expert panel	ClinGen:CA10589118
Deletion	NM_000059.4(BRCA2):c.1792del (p.Thr598fs)	BRCA2	Pathogenic	13	32907405	32907405	GA	G	reviewed by expert panel	ClinGen:CA10589119
Deletion	NM_000059.4(BRCA2):c.1798_1802del (p.Tyr600fs)	BRCA2	Pathogenic	13	32907413	32907417	TTATAA	T	reviewed by expert panel	ClinGen:CA10589120
Indel	NM_000059.3(BRCA2):c.1811_1812delinsG (p.Lys604fs)	BRCA2	Pathogenic	13	32907426	32907427	AA	G	reviewed by expert panel	ClinGen:CA10589121
Deletion	NM_000059.4(BRCA2):c.1841_1844del (p.Ile614fs)	BRCA2	Pathogenic	13	32907453	32907456	CTAAT	C	reviewed by expert panel	ClinGen:CA10589122
Deletion	NM_000059.4(BRCA2):c.1845_1846del (p.Asn615fs)	BRCA2	Pathogenic	13	32907460	32907461	ACT	A	reviewed by expert panel	ClinGen:CA10589123
Insertion	NM_000059.4(BRCA2):c.1888_1889insAA (p.Thr630fs)	BRCA2	Pathogenic	13	32907502	32907503	T	TAA	reviewed by expert panel	ClinGen:CA10589124
Deletion	NM_000059.4(BRCA2):c.1888del (p.Thr630fs)	BRCA2	Pathogenic	13	32907503	32907503	TA	T	reviewed by expert panel	ClinGen:CA10589125
Insertion	NM_000059.4(BRCA2):c.1900_1901insTT (p.Ala634fs)	BRCA2	Pathogenic	13	32907515	32907516	G	GTT	reviewed by expert panel	ClinGen:CA10589126

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