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.468G>A (p.Trp156Ter)	CDH1	Pathogenic	16	68842407	68842407	G	A	reviewed by expert panel	ClinGen:CA10577537
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.1679C>G (p.Thr560Arg)	CDH1	Pathogenic	16	68853296	68853296	C	G	reviewed by expert panel	ClinGen:CA10577547
Duplication	NM_004360.5(CDH1):c.1779dup (p.Ile594fs)	CDH1	Pathogenic	16	68855966	68855967	G	GC	reviewed by expert panel	ClinGen:CA10577548
Deletion	NM_004360.5(CDH1):c.2076_2077del (p.Gly693fs)	CDH1	Pathogenic	16	68857441	68857442	CTG	C	reviewed by expert panel	-
Indel	NM_004360.5(CDH1):c.124_126delinsT (p.Pro42fs)	CDH1	Pathogenic	16	68772275	68772277	CCC	T	reviewed by expert panel	ClinGen:CA10580072
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
Deletion	NM_004360.5(CDH1):c.1137+1del	CDH1	Pathogenic	16	68846166	68846166	CG	C	reviewed by expert panel	ClinGen:CA10580105
Deletion	NM_004360.5(CDH1):c.1488_1494del (p.Glu497fs)	CDH1	Pathogenic	16	68849584	68849590	TCCGAGGA	T	reviewed by expert panel	ClinGen:CA10580117