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
Indel	NM_000059.4(BRCA2):c.1587delTinsCA	BRCA2	Pathogenic	13	32907202	32907202	T	CA	reviewed by expert panel	ClinGen:CA10589105
Deletion	NM_000059.4(BRCA2):c.1594_1595del (p.Glu532fs)	BRCA2	Pathogenic	13	32907208	32907209	AAG	A	reviewed by expert panel	ClinGen:CA10589106
single nucleotide variant	NM_000059.4(BRCA2):c.1621G>T (p.Glu541Ter)	BRCA2	Pathogenic	13	32907236	32907236	G	T	reviewed by expert panel	ClinGen:CA10589107
Indel	NM_000059.4(BRCA2):c.1668_1671delinsATT (p.Asn556fs)	BRCA2	Pathogenic	13	32907283	32907286	TTTA	ATT	reviewed by expert panel	ClinGen:CA10589108
Deletion	NM_000059.4(BRCA2):c.1671_1674del (p.Asp559fs)	BRCA2	Pathogenic	13	32907284	32907287	TTTAA	T	reviewed by expert panel	ClinGen:CA10589109
Deletion	NM_000059.4(BRCA2):c.1674_1680del (p.Ile558fs)	BRCA2	Pathogenic	13	32907285	32907291	TTAATTGA	T	reviewed by expert panel	ClinGen:CA10589110
Deletion	NM_000059.4(BRCA2):c.1675del (p.Asp559fs)	BRCA2	Pathogenic	13	32907290	32907290	TG	T	reviewed by expert panel	ClinGen:CA10589111
Deletion	NM_000059.4(BRCA2):c.1707_1708del (p.Asn570fs)	BRCA2	Pathogenic	13	32907321	32907322	CAG	C	reviewed by expert panel	ClinGen:CA10589114
Deletion	NM_000059.4(BRCA2):c.1739_1754del (p.Ile580fs)	BRCA2	Pathogenic	13	32907352	32907367	TAATATCCACTTTGAAA	T	reviewed by expert panel	ClinGen:CA10589115
Deletion	NM_000059.4(BRCA2):c.1762_1766del (p.Asn588fs)	BRCA2	Pathogenic	13	32907376	32907380	CAAATA	C	reviewed by expert panel	ClinGen:CA10589116

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