家族性大腸腺腫症

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_000038.6(APC):c.1626+2T>G	APC	Likely pathogenic	5	112163705	112163705	T	G	reviewed by expert panel	ClinGen:CA10578321
single nucleotide variant	NM_000038.6(APC):c.1743+1G>T	APC	Likely pathogenic	5	112164670	112164670	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA10578324
single nucleotide variant	NM_000038.6(APC):c.1959-2A>G	APC	Likely pathogenic	5	112173248	112173248	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA10578331
single nucleotide variant	NM_000038.6(APC):c.3084T>A (p.Ser1028Arg)	APC	Likely pathogenic	5	112174375	112174375	T	A	reviewed by expert panel	ClinGen:CA10578350
Deletion	NM_001048174.2(MUTYH):c.1468del (p.Ser490fs)	MUTYH	Likely pathogenic	1	45795076	45795076	CT	C	criteria provided, single submitter	ClinGen:CA10581799
single nucleotide variant	NM_001048174.2(MUTYH):c.606+1G>T	MUTYH	Likely pathogenic	1	45798245	45798245	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10581808
single nucleotide variant	NM_001127511.3(APC):c.-192A>G	APC	Likely pathogenic	5	112043223	112043223	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA10584053,OMIM:611731.0055
Deletion	NM_000038.6(APC):c.4647del (p.Glu1550fs)	APC	Likely pathogenic	5	112175937	112175937	CA	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA10584252
single nucleotide variant	NM_000038.6(APC):c.573T>A (p.Tyr191Ter)	APC	Likely pathogenic	5	112116528	112116528	T	A	criteria provided, single submitter	ClinGen:CA10588377
single nucleotide variant	NM_000038.6(APC):c.1409-6A>G	APC	Likely pathogenic	5	112162799	112162799	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA10588379