遺伝性びまん性胃がん - MGenReviews

遺伝性びまん性胃がん

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_004360.5(CDH1):c.2296-1G>A	CDH1	Likely pathogenic	16	68863556	68863556	G	A	reviewed by expert panel	ClinGen:CA16042157
Deletion	NC_000016.10:g.(?_68737292)_(68835541_?)del	CDH1	Pathogenic	16	68771195	68869444	na	na	criteria provided, single submitter	-
Deletion	NC_000016.10:g.(?_68801670)_(68801893_?)del	CDH1	Pathogenic	16	68835573	68835796	na	na	criteria provided, single submitter	-
Deletion	NM_004360.5(CDH1):c.377del (p.Pro126fs)	CDH1	Pathogenic	16	68835781	68835781	GC	G	reviewed by expert panel	ClinGen:CA16614939
single nucleotide variant	NM_004360.5(CDH1):c.1565+1G>C	CDH1	Pathogenic	16	68849663	68849663	G	C	reviewed by expert panel	ClinGen:CA16614968
Duplication	NM_004360.5(CDH1):c.1565+2dup	CDH1	Pathogenic	16	68849663	68849664	G	GT	reviewed by expert panel	ClinGen:CA16614980
Deletion	NC_000016.10:g.(?_68737292)_(68738411_?)del	CDH1	Pathogenic	16	68771195	68772314	na	na	criteria provided, single submitter	-
single nucleotide variant	NM_004360.5(CDH1):c.532-1G>C	CDH1	Likely pathogenic	16	68842595	68842595	G	C	reviewed by expert panel	ClinGen:CA8129891
single nucleotide variant	NM_004360.5(CDH1):c.793G>T (p.Glu265Ter)	CDH1	Pathogenic	16	68844205	68844205	G	T	reviewed by expert panel	ClinGen:CA16615233
single nucleotide variant	NM_004360.5(CDH1):c.49-2A>G	CDH1	Pathogenic	16	68772198	68772198	A	G	reviewed by expert panel	ClinGen:CA16615353,OMIM:192090.0008

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