遺伝性びまん性胃がん

腫瘍性疾患

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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.2293C>T (p.Gln765Ter)	CDH1	Pathogenic	16	68862205	68862205	C	T	reviewed by expert panel	ClinGen:CA10580156
single nucleotide variant	NM_004360.5(CDH1):c.2296-2A>G	CDH1	Likely pathogenic	16	68863555	68863555	A	G	reviewed by expert panel	ClinGen:CA10580157
single nucleotide variant	NM_004360.5(CDH1):c.3G>A (p.Met1Ile)	CDH1	Pathogenic	16	68771321	68771321	G	A	reviewed by expert panel	ClinGen:CA10583399
single nucleotide variant	NM_004360.5(CDH1):c.220C>T (p.Arg74Ter)	CDH1	Pathogenic	16	68835629	68835629	C	T	reviewed by expert panel	ClinGen:CA10583404
Duplication	NM_004360.5(CDH1):c.360dup (p.His121fs)	CDH1	Pathogenic	16	68835765	68835766	T	TG	reviewed by expert panel	ClinGen:CA10583408
single nucleotide variant	NM_004360.5(CDH1):c.832+1G>T	CDH1	Pathogenic	16	68844245	68844245	G	T	reviewed by expert panel	ClinGen:CA10583412
single nucleotide variant	NM_004360.5(CDH1):c.1320+1G>C	CDH1	Likely pathogenic	16	68847399	68847399	G	C	reviewed by expert panel	ClinGen:CA10588622,OMIM:192090.0024
Deletion	NM_004360.5(CDH1):c.1354_1357del (p.Leu452fs)	CDH1	Pathogenic	16	68849451	68849454	TCTAC	T	reviewed by expert panel	ClinGen:CA10588623
single nucleotide variant	NM_004360.5(CDH1):c.1578G>A (p.Trp526Ter)	CDH1	Pathogenic	16	68853195	68853195	G	A	reviewed by expert panel	ClinGen:CA10588624
single nucleotide variant	NM_004360.5(CDH1):c.1711+1G>C	CDH1	Likely pathogenic	16	68853329	68853329	G	C	reviewed by expert panel	ClinGen:CA10603548