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.781G>T (p.Glu261Ter)	CDH1	Pathogenic	16	68844193	68844193	G	T	reviewed by expert panel	ClinGen:CA121997,OMIM:192090.0004
Duplication	NM_004360.5(CDH1):c.2386dup (p.Arg796fs)	CDH1	Likely pathogenic	16	68863642	68863643	T	TC	reviewed by expert panel	OMIM:192090.0006
single nucleotide variant	NM_004360.5(CDH1):c.2095C>T (p.Gln699Ter)	CDH1	Pathogenic	16	68857460	68857460	C	T	reviewed by expert panel	ClinGen:CA280993,OMIM:192090.0007
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.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.1792C>T (p.Arg598Ter)	CDH1	Pathogenic	16	68855984	68855984	C	T	reviewed by expert panel	ClinGen:CA281000,OMIM:192090.0012
single nucleotide variant	NM_004360.5(CDH1):c.1901C>T (p.Ala634Val)	CDH1	Pathogenic/Likely pathogenic	16	68856093	68856093	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA281003,UniProtKB:P12830#VAR_055431,OMIM:192090.0015
single nucleotide variant	NM_173842.3(IL1RN):c.229G>T (p.Glu77Ter)	IL1RN	Pathogenic	2	113888645	113888645	G	T	criteria provided, single submitter	ClinGen:CA124199,OMIM:147679.0002
single nucleotide variant	NM_004360.5(CDH1):c.1008G>T (p.Glu336Asp)	CDH1	Likely pathogenic	16	68845762	68845762	G	T	reviewed by expert panel	ClinGen:CA280990,UniProtKB:P12830#VAR_001310,OMIM:192090.0005
Deletion	NM_173842.3(IL1RN):c.156_157del (p.Asn52fs)	IL1RN	Pathogenic	2	113887191	113887192	AAC	A	criteria provided, single submitter	ClinGen:CA224944,OMIM:147679.0004