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
Deletion	NM_004360.5(CDH1):c.382del (p.His128fs)	CDH1	Pathogenic	16	68835788	68835788	GC	G	reviewed by expert panel	ClinGen:CA496152715
Deletion	NM_004360.5(CDH1):c.1553_1565+39del	CDH1	Pathogenic/Likely pathogenic	16	68849647	68849698	ATGGAACAGAAAATAACGTAAGTGTGAGGATTTTTCAACTGACTTGCAGCAAC	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA658658489
Deletion	NM_004360.5(CDH1):c.1636del (p.Ala546fs)	CDH1	Pathogenic	16	68853251	68853251	CG	C	reviewed by expert panel	ClinGen:CA658658492
Duplication	NM_004360.5(CDH1):c.1679dup (p.Tyr561fs)	CDH1	Pathogenic	16	68853295	68853296	A	AC	reviewed by expert panel	ClinGen:CA658658493
Deletion	NM_004360.5(CDH1):c.1390del (p.Val464fs)	CDH1	Pathogenic	16	68849486	68849486	AG	A	reviewed by expert panel	ClinGen:CA658658488
Deletion	NM_004360.5(CDH1):c.1948_1949del (p.Ile650fs)	CDH1	Pathogenic	16	68857312	68857313	CTA	C	reviewed by expert panel	ClinGen:CA658658495
Duplication	NM_004360.5(CDH1):c.2474dup (p.Pro826fs)	CDH1	Pathogenic	16	68867223	68867224	G	GC	reviewed by expert panel	ClinGen:CA658658499
single nucleotide variant	NM_004360.5(CDH1):c.2506G>T (p.Glu836Ter)	CDH1	Pathogenic	16	68867259	68867259	G	T	reviewed by expert panel	ClinGen:CA396472215
single nucleotide variant	NM_004360.5(CDH1):c.1569T>A (p.Tyr523Ter)	CDH1	Pathogenic	16	68853186	68853186	T	A	reviewed by expert panel	ClinGen:CA396464802
Duplication	NM_004360.5(CDH1):c.2029dup (p.Gln677fs)	CDH1	Pathogenic	16	68857392	68857393	A	AC	reviewed by expert panel	ClinGen:CA658658496