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.6481_6484del (p.Asp2161fs)	BRCA2	Pathogenic	13	32914972	32914975	AAGAC	A	reviewed by expert panel	ClinGen:CA10588566
Deletion	NM_000059.4(BRCA2):c.6727del (p.Ser2243fs)	BRCA2	Pathogenic	13	32915218	32915218	AT	A	reviewed by expert panel	ClinGen:CA10588567
Indel	NM_000059.4(BRCA2):c.7210_7216delinsTGTAG (p.Lys2404fs)	BRCA2	Pathogenic	13	32929200	32929206	AAAGTCT	TGTAG	reviewed by expert panel	ClinGen:CA10588568
Deletion	NM_024675.4(PALB2):c.3295_3301del (p.Thr1099fs)	PALB2	Likely pathogenic	16	23619234	23619240	AGAGTCGT	A	criteria provided, single submitter	ClinGen:CA10588599
single nucleotide variant	NM_024675.4(PALB2):c.3234T>A (p.Cys1078Ter)	PALB2	Pathogenic/Likely pathogenic	16	23619301	23619301	A	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA10588601
single nucleotide variant	NM_024675.4(PALB2):c.3114-1G>A	PALB2	Likely pathogenic	16	23625413	23625413	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA10588602
Deletion	NM_024675.4(PALB2):c.3041_3042del (p.Leu1014fs)	PALB2	Likely pathogenic	16	23632754	23632755	TTA	T	criteria provided, single submitter	ClinGen:CA10588603
Deletion	NM_024675.4(PALB2):c.3017del (p.Phe1005_Leu1006insTer)	PALB2	Pathogenic/Likely pathogenic	16	23632779	23632779	CA	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA10588604
single nucleotide variant	NM_024675.4(PALB2):c.2996+1G>T	PALB2	Likely pathogenic	16	23634289	23634289	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10588605
single nucleotide variant	NM_024675.4(PALB2):c.2835-2A>C	PALB2	Likely pathogenic	16	23634453	23634453	T	G	criteria provided, single submitter	ClinGen:CA10588606

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