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.70G>T (p.Glu24Ter)	CDH1	Pathogenic	16	68772221	68772221	G	T	reviewed by expert panel	ClinGen:CA280997,OMIM:192090.0011
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
Indel	NM_004360.5(CDH1):c.124_126delinsT (p.Pro42fs)	CDH1	Pathogenic	16	68772275	68772277	CCC	T	reviewed by expert panel	ClinGen:CA10580072
Deletion	NM_004360.5(CDH1):c.51_163+2del	CDH1	Pathogenic	16	68772198	68772312	CAGGTCTCCTCTTGGCTCTGCCAGGAGCCGGAGCCCTGCCACCCTGGCTTTGACGCCGAGAGCTACACGTTCACGGTGCCCCGGCGCCACCTGGAGAGAGGCCGCGTCCTGGGCAG	C	criteria provided, single submitter	-
Deletion	NC_000016.10:g.(?_68737292)_(68738411_?)del	CDH1	Pathogenic	16	68771195	68772314	na	na	criteria provided, single submitter	-
Deletion	NC_000016.10:g.(?_68738291)_(68738417_?)del	CDH1	Pathogenic	16	68772194	68772320	na	na	criteria provided, single submitter	-
Deletion	NC_000016.10:g.(?_68737406)_(68738421_?)del	CDH1	Pathogenic	16	68771309	68772324	na	na	criteria provided, single submitter	-
single nucleotide variant	NM_004360.5(CDH1):c.164-1G>A	CDH1	Likely pathogenic	16	68835572	68835572	G	A	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_004360.5(CDH1):c.187C>T (p.Arg63Ter)	CDH1	Pathogenic	16	68835596	68835596	C	T	reviewed by expert panel	ClinGen:CA333496
Deletion	NM_004360.5(CDH1):c.202del (p.Tyr68fs)	CDH1	Pathogenic	16	68835611	68835611	CT	C	reviewed by expert panel	ClinGen:CA191858