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.12G>A (p.Trp4Ter)	CDH1	Pathogenic	16	68771330	68771330	G	A	reviewed by expert panel	-
Deletion	NC_000016.10:g.(?_68833280)_(68833509_?)del	CDH1	Pathogenic	16	68867183	68867412	na	na	criteria provided, single submitter	-
Deletion	NM_004360.5(CDH1):c.833-8_836del	CDH1	Likely pathogenic	16	68845575	68845586	TGAACTCTTCCAG	T	criteria provided, single submitter	-
Deletion	NM_004360.5(CDH1):c.1993del (p.Ile665fs)	CDH1	Pathogenic	16	68857355	68857355	CA	C	reviewed by expert panel	-
Deletion	NC_000016.10:g.(?_68737406)_(68738421_?)del	CDH1	Pathogenic	16	68771309	68772324	na	na	criteria provided, single submitter	-
Deletion	NC_000016.10:g.(?_68738291)_(68738417_?)del	CDH1	Pathogenic	16	68772194	68772320	na	na	criteria provided, single submitter	-
single nucleotide variant	NM_004360.5(CDH1):c.687+1G>A	CDH1	Likely pathogenic	16	68842752	68842752	G	A	reviewed by expert panel	-
Deletion	NM_004360.5(CDH1):c.1170del (p.Asn390fs)	CDH1	Pathogenic	16	68847248	68847248	AC	A	reviewed by expert panel	-
Deletion	NM_004360.5(CDH1):c.1107del (p.Asn369fs)	CDH1	Pathogenic	16	68846136	68846136	AC	A	reviewed by expert panel	-
single nucleotide variant	NM_004360.5(CDH1):c.1936+5G>A	CDH1	Likely pathogenic	16	68856133	68856133	G	A	criteria provided, multiple submitters, no conflicts	-

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