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.1A>G (p.Met1Val)	CDH1	Pathogenic	16	68771319	68771319	A	G	reviewed by expert panel	ClinGen:CA396451176
single nucleotide variant	NM_004360.5(CDH1):c.2T>C (p.Met1Thr)	CDH1	Pathogenic	16	68771320	68771320	T	C	reviewed by expert panel	ClinGen:CA396451185
single nucleotide variant	NM_004360.5(CDH1):c.2T>G (p.Met1Arg)	CDH1	Pathogenic	16	68771320	68771320	T	G	reviewed by expert panel	ClinGen:CA396451182
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.12G>A (p.Trp4Ter)	CDH1	Pathogenic	16	68771330	68771330	G	A	reviewed by expert panel	-
single nucleotide variant	NM_004360.5(CDH1):c.26C>A (p.Ser9Ter)	CDH1	Pathogenic	16	68771344	68771344	C	A	reviewed by expert panel	-
single nucleotide variant	NM_004360.5(CDH1):c.48+1G>A	CDH1	Pathogenic	16	68771367	68771367	G	A	reviewed by expert panel	ClinGen:CA396451431
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
single nucleotide variant	NM_004360.5(CDH1):c.59G>A (p.Trp20Ter)	CDH1	Pathogenic	16	68772210	68772210	G	A	reviewed by expert panel	ClinGen:CA280996,OMIM:192090.0009
single nucleotide variant	NM_004360.5(CDH1):c.60G>A (p.Trp20Ter)	CDH1	Pathogenic	16	68772211	68772211	G	A	reviewed by expert panel	ClinGen:CA197127