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.1046del (p.Asn349fs)	PALB2	Pathogenic	16	23646821	23646821	AT	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA658658433
Deletion	NM_024675.4(PALB2):c.635del (p.Pro212fs)	PALB2	Pathogenic	16	23647232	23647232	TG	T	criteria provided, single submitter	ClinGen:CA658658442
single nucleotide variant	NM_024675.4(PALB2):c.223A>T (p.Lys75Ter)	PALB2	Pathogenic	16	23647644	23647644	T	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA395138968
single nucleotide variant	NM_024675.4(PALB2):c.3436C>T (p.Gln1146Ter)	PALB2	Pathogenic	16	23614905	23614905	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA395138158
single nucleotide variant	NM_024675.4(PALB2):c.3324C>G (p.Tyr1108Ter)	PALB2	Pathogenic/Likely pathogenic	16	23619211	23619211	G	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA395139370
Deletion	NM_024675.4(PALB2):c.3157_3160del (p.Asp1053fs)	PALB2	Pathogenic	16	23625366	23625369	GAATC	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA658658458
Deletion	NM_024675.4(PALB2):c.2818del (p.Glu940fs)	PALB2	Pathogenic	16	23635346	23635346	TC	T	criteria provided, single submitter	ClinGen:CA658658402
Deletion	NC_000017.11:g.(?_43045672)_(43115785_?)del	BRCA1	Pathogenic	17	41197689	41267802	na	na	criteria provided, single submitter	-
Deletion	NM_024675.4(PALB2):c.1704_1707del (p.Lys569fs)	PALB2	Pathogenic	16	23641768	23641771	CTTTT	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA658658418
Deletion	NM_024675.4(PALB2):c.1565del (p.Pro522fs)	PALB2	Pathogenic/Likely pathogenic	16	23646302	23646302	TG	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA645583278

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