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
single nucleotide variant	NM_024675.4(PALB2):c.3350+4A>C	PALB2	Likely pathogenic	16	23619181	23619181	T	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA658658454
Deletion	NM_000059.4(BRCA2):c.8818_8824del (p.Lys2940fs)	BRCA2	Pathogenic	13	32953514	32953520	TAAGAAAC	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA658656401
Deletion	NM_024675.4(PALB2):c.1795del (p.Ser599fs)	PALB2	Pathogenic	16	23641680	23641680	CT	C	criteria provided, single submitter	ClinGen:CA658658416
single nucleotide variant	NM_024675.4(PALB2):c.2748+1G>A	PALB2	Pathogenic/Likely pathogenic	16	23637556	23637556	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA279488993
single nucleotide variant	NM_024675.4(PALB2):c.1684+1G>T	PALB2	Likely pathogenic	16	23646182	23646182	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA395129863
single nucleotide variant	NM_024675.4(PALB2):c.2632G>T (p.Glu878Ter)	PALB2	Pathogenic	16	23637673	23637673	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA395122165
single nucleotide variant	NM_024675.4(PALB2):c.1684+1G>A	PALB2	Pathogenic	16	23646182	23646182	C	T	reviewed by expert panel	ClinGen:CA395129867
Deletion	NM_024675.4(PALB2):c.1677del (p.Gln559_Val560insTer)	PALB2	Pathogenic	16	23646190	23646190	CT	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA658658419
Deletion	NM_024675.4(PALB2):c.1429del (p.Thr477fs)	PALB2	Pathogenic	16	23646438	23646438	GT	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA658658424
single nucleotide variant	NM_024675.4(PALB2):c.1327A>T (p.Lys443Ter)	PALB2	Pathogenic	16	23646540	23646540	T	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA395132293

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