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.2962_2963del (p.Gln988fs)	PALB2	Pathogenic	16	23634323	23634324	TTG	T	criteria provided, single submitter	ClinGen:CA658658395
Deletion	NM_024675.4(PALB2):c.2938del (p.Ser980fs)	PALB2	Pathogenic	16	23634348	23634348	CT	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA658658396
single nucleotide variant	NM_024675.4(PALB2):c.2834+1G>C	PALB2	Pathogenic/Likely pathogenic	16	23635329	23635329	C	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA395144749
Deletion	NM_024675.4(PALB2):c.2719del (p.Glu907fs)	PALB2	Pathogenic	16	23637586	23637586	TC	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA658658403
single nucleotide variant	NM_024675.4(PALB2):c.2512C>T (p.Gln838Ter)	PALB2	Pathogenic/Likely pathogenic	16	23640963	23640963	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA395123923
Duplication	NM_024675.4(PALB2):c.2255_2267dup (p.Cys756fs)	PALB2	Pathogenic	16	23641207	23641208	G	GCAGCAAGTTCGTC	criteria provided, multiple submitters, no conflicts	ClinGen:CA658658405
Deletion	NM_024675.4(PALB2):c.2219_2220del (p.Gln740fs)	PALB2	Pathogenic	16	23641255	23641256	CTT	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA658658406
Insertion	NM_024675.4(PALB2):c.2160_2161insG (p.Thr721fs)	PALB2	Pathogenic	16	23641314	23641315	T	TC	criteria provided, single submitter	ClinGen:CA658658409
Deletion	NM_024675.4(PALB2):c.2002del (p.Met668fs)	PALB2	Pathogenic	16	23641473	23641473	AT	A	criteria provided, single submitter	ClinGen:CA658658410
Deletion	NM_024675.4(PALB2):c.1653del (p.Gln552fs)	PALB2	Pathogenic	16	23646214	23646214	GA	G	criteria provided, single submitter	ClinGen:CA658658420

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