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
Duplication	NM_000059.4(BRCA2):c.6089dup (p.Asn2030fs)	BRCA2	Likely pathogenic	13	32914577	32914578	G	GA	criteria provided, single submitter	ClinGen:CA658656414
Deletion	NM_024675.4(PALB2):c.2456_2463del (p.Lys819fs)	PALB2	Pathogenic/Likely pathogenic	16	23641012	23641019	GATTTTCTT	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA658658404
Deletion	NM_024675.4(PALB2):c.1485del (p.Asp496fs)	PALB2	Pathogenic/Likely pathogenic	16	23646382	23646382	CT	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA658658422
single nucleotide variant	NM_024675.4(PALB2):c.866T>A (p.Leu289Ter)	PALB2	Pathogenic/Likely pathogenic	16	23647001	23647001	A	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA395135804
Deletion	NM_024675.4(PALB2):c.620del (p.Pro207fs)	PALB2	Pathogenic/Likely pathogenic	16	23647247	23647247	TG	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA658658443
Deletion	NM_024675.4(PALB2):c.444del (p.Lys149fs)	PALB2	Pathogenic/Likely pathogenic	16	23647423	23647423	TC	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA658658447
single nucleotide variant	NM_007294.4(BRCA1):c.4888G>T (p.Glu1630Ter)	BRCA1	Pathogenic/Likely pathogenic	17	41223043	41223043	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10591749
single nucleotide variant	NM_007294.4(BRCA1):c.2351C>A (p.Ser784Ter)	BRCA1	Pathogenic/Likely pathogenic	17	41245197	41245197	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA10597305
Deletion	NM_007294.4(BRCA1):c.1485del (p.Glu495fs)	BRCA1	Likely pathogenic	17	41246063	41246063	GC	G	criteria provided, single submitter	ClinGen:CA658656787
single nucleotide variant	NM_000077.5(CDKN2A):c.296G>C (p.Arg99Pro)	CDKN2A	Likely pathogenic	9	21971062	21971062	C	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA373086116

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