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.1948_1949dup (p.Ile651fs)	CDH1	Pathogenic	16	68857311	68857312	C	CTA	reviewed by expert panel	ClinGen:CA658658494
single nucleotide variant	NM_004360.5(CDH1):c.2104G>T (p.Glu702Ter)	CDH1	Pathogenic	16	68857469	68857469	G	T	reviewed by expert panel	ClinGen:CA396467856
single nucleotide variant	NM_004360.5(CDH1):c.529C>T (p.Gln177Ter)	CDH1	Pathogenic	16	68842468	68842468	C	T	reviewed by expert panel	ClinGen:CA396457818
single nucleotide variant	NM_004360.5(CDH1):c.308G>A (p.Trp103Ter)	CDH1	Pathogenic	16	68835717	68835717	G	A	reviewed by expert panel	ClinGen:CA396457352
Indel	NM_004360.5(CDH1):c.480_486delinsAGAATA (p.Ile161fs)	CDH1	Pathogenic	16	68842419	68842425	CATCAGC	AGAATA	reviewed by expert panel	ClinGen:CA658658479
Insertion	NM_004360.5(CDH1):c.594_595insT (p.Thr199fs)	CDH1	Pathogenic	16	68842658	68842659	C	CT	reviewed by expert panel	ClinGen:CA658658480
Deletion	NM_004360.5(CDH1):c.687+1_687+2del	CDH1	Pathogenic	16	68842751	68842752	CTG	C	criteria provided, single submitter	ClinGen:CA645596624
Deletion	NM_004360.5(CDH1):c.1085del (p.Val362fs)	CDH1	Pathogenic	16	68846114	68846114	GT	G	reviewed by expert panel	ClinGen:CA658658486
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.1480G>T (p.Glu494Ter)	CDH1	Pathogenic	16	68849577	68849577	G	T	reviewed by expert panel	ClinGen:CA396463169