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.2398del (p.Arg800fs)	CDH1	Pathogenic	16	68863656	68863656	TC	T	reviewed by expert panel	ClinGen:CA281459
single nucleotide variant	NM_004360.5(CDH1):c.1137G>A (p.Thr379=)	CDH1	Pathogenic	16	68846166	68846166	G	A	reviewed by expert panel	ClinGen:CA186229,OMIM:192090.0020
single nucleotide variant	NM_004360.5(CDH1):c.707C>A (p.Ser236Ter)	CDH1	Pathogenic	16	68844119	68844119	C	A	reviewed by expert panel	ClinGen:CA298974
Duplication	NM_004360.5(CDH1):c.1979dup (p.Gly661_Asp662insTer)	CDH1	Pathogenic	16	68857343	68857344	G	GT	reviewed by expert panel	ClinGen:CA298940
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
single nucleotide variant	NM_004360.5(CDH1):c.76G>T (p.Glu26Ter)	CDH1	Pathogenic	16	68772227	68772227	G	T	reviewed by expert panel	ClinGen:CA186314
Deletion	NM_004360.5(CDH1):c.202del (p.Tyr68fs)	CDH1	Pathogenic	16	68835611	68835611	CT	C	reviewed by expert panel	ClinGen:CA191858
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