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
Duplication	NM_004360.5(CDH1):c.2386dup (p.Arg796fs)	CDH1	Likely pathogenic	16	68863642	68863643	T	TC	reviewed by expert panel	OMIM:192090.0006
single nucleotide variant	NM_004360.5(CDH1):c.1008G>T (p.Glu336Asp)	CDH1	Likely pathogenic	16	68845762	68845762	G	T	reviewed by expert panel	ClinGen:CA280990,UniProtKB:P12830#VAR_001310,OMIM:192090.0005
single nucleotide variant	NM_004360.5(CDH1):c.1137+2T>C	CDH1	Likely pathogenic	16	68846168	68846168	T	C	reviewed by expert panel	ClinGen:CA194301
single nucleotide variant	NM_004360.5(CDH1):c.1565+5G>A	CDH1	Likely pathogenic	16	68849667	68849667	G	A	reviewed by expert panel	ClinGen:CA190759
single nucleotide variant	NM_004360.5(CDH1):c.1711G>A (p.Gly571Ser)	CDH1	Likely pathogenic	16	68853328	68853328	G	A	criteria provided, single submitter	ClinGen:CA192333
Deletion	NM_004360.5(CDH1):c.1711+2_1711+7del	CDH1	Likely pathogenic	16	68853328	68853333	TGGTAAG	T	reviewed by expert panel	ClinGen:CA195350
single nucleotide variant	NM_004360.5(CDH1):c.2272G>A (p.Glu758Lys)	CDH1	Likely pathogenic	16	68862184	68862184	G	A	criteria provided, single submitter	ClinGen:CA194182
single nucleotide variant	NM_004360.5(CDH1):c.1057G>A (p.Glu353Lys)	CDH1	Likely pathogenic	16	68846086	68846086	G	A	reviewed by expert panel	ClinGen:CA10577540
single nucleotide variant	NM_004360.5(CDH1):c.1008G>A (p.Glu336=)	CDH1	Likely pathogenic	16	68845762	68845762	G	A	reviewed by expert panel	ClinGen:CA10580100
single nucleotide variant	NM_004360.5(CDH1):c.1137+1G>A	CDH1	Likely pathogenic	16	68846167	68846167	G	A	reviewed by expert panel	ClinGen:CA10580104