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_024675.4(PALB2):c.204del (p.Lys68fs)	PALB2	Pathogenic	16	23649178	23649178	GT	G	criteria provided, multiple submitters, no conflicts	-
Duplication	NM_024675.4(PALB2):c.117_120dup (p.Ala41fs)	PALB2	Likely pathogenic	16	23649261	23649262	C	CTCTT	criteria provided, single submitter	-
Duplication	NM_007294.4(BRCA1):c.5021dup (p.Thr1675fs)	BRCA1	Pathogenic	17	41219677	41219678	G	GA	criteria provided, single submitter	-
Deletion	NM_007294.4(BRCA1):c.4885del (p.Glu1629fs)	BRCA1	Pathogenic	17	41223046	41223046	TC	T	criteria provided, single submitter	-
Insertion	NM_007294.4(BRCA1):c.3307_3308insC (p.Cys1103fs)	BRCA1	Pathogenic	17	41244240	41244241	C	CG	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_007294.4(BRCA1):c.3106_3109del (p.Phe1036fs)	BRCA1	Pathogenic	17	41244439	41244442	TTAAA	T	criteria provided, single submitter	-
single nucleotide variant	NM_007294.4(BRCA1):c.2875A>T (p.Arg959Ter)	BRCA1	Pathogenic	17	41244673	41244673	T	A	criteria provided, single submitter	-
Deletion	NM_007294.4(BRCA1):c.2083del (p.Asp695fs)	BRCA1	Pathogenic	17	41245465	41245465	TC	T	criteria provided, single submitter	-
Indel	NM_007294.4(BRCA1):c.1757_1760delinsGA (p.Pro586fs)	BRCA1	Pathogenic	17	41245788	41245791	ATAG	TC	criteria provided, single submitter	-
Duplication	NM_007294.4(BRCA1):c.1760dup (p.Ser588fs)	BRCA1	Pathogenic	17	41245787	41245788	T	TA	criteria provided, single submitter	-

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