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.48+1G>A	CDH1	Pathogenic	16	68771367	68771367	G	A	reviewed by expert panel	ClinGen:CA396451431
Deletion	NC_000016.10:g.(?_68738291)_(68738417_?)del	CDH1	Pathogenic	16	68772194	68772320	na	na	criteria provided, single submitter	-
single nucleotide variant	NM_004360.5(CDH1):c.49-2A>G	CDH1	Pathogenic	16	68772198	68772198	A	G	reviewed by expert panel	ClinGen:CA16615353,OMIM:192090.0008
Deletion	NM_004360.5(CDH1):c.51_163+2del	CDH1	Pathogenic	16	68772198	68772312	CAGGTCTCCTCTTGGCTCTGCCAGGAGCCGGAGCCCTGCCACCCTGGCTTTGACGCCGAGAGCTACACGTTCACGGTGCCCCGGCGCCACCTGGAGAGAGGCCGCGTCCTGGGCAG	C	criteria provided, single submitter	-
single nucleotide variant	NM_004360.5(CDH1):c.59G>A (p.Trp20Ter)	CDH1	Pathogenic	16	68772210	68772210	G	A	reviewed by expert panel	ClinGen:CA280996,OMIM:192090.0009
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.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
Duplication	NC_000016.9:g.(?_68835563)_(68835806_?)dup	CDH1	Likely pathogenic	16	68835563	68835806	na	na	criteria provided, single submitter	-