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_000059.4(BRCA2):c.7900del (p.Met2634fs)	BRCA2	Pathogenic	13	32936754	32936754	TA	T	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_000059.4(BRCA2):c.8350del (p.Arg2784fs)	BRCA2	Pathogenic	13	32944557	32944557	TC	T	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_000059.4(BRCA2):c.9850_9866del (p.Ser3284fs)	BRCA2	Likely pathogenic	13	32972498	32972514	GTTAGTCCCATTTGTACA	G	criteria provided, single submitter	-
Indel	NM_024675.3(PALB2):c.3249_3253delinsAGCC (p.Ser1084fs)	PALB2	Pathogenic	16	23619282	23619286	ACGAC	GGCT	criteria provided, single submitter	-
Deletion	NM_024675.4(PALB2):c.3085_3092del (p.Thr1029fs)	PALB2	Pathogenic	16	23632704	23632711	AATAGTAGT	A	criteria provided, single submitter	-
single nucleotide variant	NM_024675.4(PALB2):c.2866G>T (p.Glu956Ter)	PALB2	Pathogenic	16	23634420	23634420	C	A	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_024675.4(PALB2):c.2816_2823del (p.Asn938_Leu939insTer)	PALB2	Pathogenic	16	23635341	23635348	TGATTTCCA	T	criteria provided, single submitter	-
Indel	NM_024675.3(PALB2):c.2223_2224delinsG (p.Ser742fs)	PALB2	Pathogenic	16	23641251	23641252	AG	C	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_024675.4(PALB2):c.1536C>A (p.Tyr512Ter)	PALB2	Pathogenic	16	23646331	23646331	G	T	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_024675.4(PALB2):c.1179del (p.Lys393fs)	PALB2	Pathogenic	16	23646688	23646688	GT	G	criteria provided, single submitter	-

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