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.457A>T (p.Lys153Ter)	CDH1	Pathogenic	16	68842396	68842396	A	T	reviewed by expert panel	-
single nucleotide variant	NM_004360.5(CDH1):c.2439+1G>T	CDH1	Likely pathogenic	16	68863701	68863701	G	T	criteria provided, single submitter	-
single nucleotide variant	NM_004360.5(CDH1):c.1137G>T (p.Thr379=)	CDH1	Likely pathogenic	16	68846166	68846166	G	T	reviewed by expert panel	-
single nucleotide variant	NM_004360.5(CDH1):c.1913G>A (p.Trp638Ter)	CDH1	Pathogenic	16	68856105	68856105	G	A	reviewed by expert panel	-
single nucleotide variant	NM_004360.5(CDH1):c.2265T>A (p.Tyr755Ter)	CDH1	Pathogenic	16	68862177	68862177	T	A	reviewed by expert panel	-
single nucleotide variant	NM_004360.5(CDH1):c.531+1G>T	CDH1	Likely pathogenic	16	68842471	68842471	G	T	criteria provided, single submitter	-
single nucleotide variant	NM_004360.5(CDH1):c.2165-1G>T	CDH1	Likely pathogenic	16	68862076	68862076	G	T	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_004360.5(CDH1):c.51_163+2del	CDH1	Pathogenic	16	68772198	68772312	CAGGTCTCCTCTTGGCTCTGCCAGGAGCCGGAGCCCTGCCACCCTGGCTTTGACGCCGAGAGCTACACGTTCACGGTGCCCCGGCGCCACCTGGAGAGAGGCCGCGTCCTGGGCAG	C	criteria provided, single submitter	-
Deletion	NM_004360.4(CDH1):c.2440_2649del	CDH1	Pathogenic	16	68867190	68867399	TTAGAATCTGAAAGCGGCTGATACTGACCCCACAGCCCCGCCTTATGATTCTCTGCTCGTGTTTGACTATGAAGGAAGCGGTTCCGAAGCTGCTAGTCTGAGCTCCCTGAACTCCTCAGAGTCAGACAAAGACCAGGACTATGACTACTTGAACGAATGGGGCAATCGCTTCAAGAAGCTGGCTGACATGTACGGAGGCGGCGAGGACGAC	T	criteria provided, single submitter	-
Duplication	NM_004360.5(CDH1):c.1234_1235dup (p.Ile415fs)	CDH1	Pathogenic	16	68847310	68847311	C	CTG	criteria provided, multiple submitters, no conflicts	-

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