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

1
...
592
593
594
595
596
...
669

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.7791del (p.Glu2598fs)	BRCA2	Pathogenic	13	32932049	32932049	GA	G	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_000059.4(BRCA2):c.8032del (p.Arg2678fs)	BRCA2	Pathogenic	13	32937369	32937369	GA	G	criteria provided, single submitter	-
Deletion	NM_000059.4(BRCA2):c.8111_8118del (p.Thr2703_Ser2704insTer)	BRCA2	Pathogenic	13	32937449	32937456	TTCTAGCAA	T	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000059.4(BRCA2):c.8931T>G (p.Tyr2977Ter)	BRCA2	Pathogenic	13	32953630	32953630	T	G	criteria provided, single submitter	-
Duplication	NM_000059.4(BRCA2):c.9329dup (p.Asn3110fs)	BRCA2	Pathogenic	13	32968896	32968897	T	TA	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_000059.4(BRCA2):c.9591del (p.Cys3198fs)	BRCA2	Likely pathogenic	13	32971124	32971124	AC	A	criteria provided, single submitter	-
Deletion	NM_000059.4(BRCA2):c.9711del (p.Lys3238fs)	BRCA2	Likely pathogenic	13	32972360	32972360	AG	A	criteria provided, single submitter	-
single nucleotide variant	NM_024675.4(PALB2):c.3441T>A (p.Cys1147Ter)	PALB2	Pathogenic	16	23614900	23614900	A	T	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_024675.4(PALB2):c.3425T>A (p.Leu1142Ter)	PALB2	Pathogenic	16	23614916	23614916	A	T	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_024675.4(PALB2):c.2619del (p.Ser873fs)	PALB2	Likely pathogenic	16	23637686	23637686	CA	C	criteria provided, single submitter	-

1
...
592
593
594
595
596
...
669