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_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
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
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_000038.6(APC):c.3084T>A (p.Ser1028Arg)	APC	Likely pathogenic	5	112174375	112174375	T	A	reviewed by expert panel	ClinGen:CA10578350
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.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.1626+2T>G	APC	Likely pathogenic	5	112163705	112163705	T	G	reviewed by expert panel	ClinGen:CA10578321
single nucleotide variant	NM_001048174.2(MUTYH):c.1240-1G>T	MUTYH	Likely pathogenic	1	45797007	45797007	C	A	criteria provided, single submitter	ClinGen:CA10577706
single nucleotide variant	NM_001048174.2(MUTYH):c.1434+1G>T	MUTYH	Likely pathogenic	1	45796187	45796187	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10577697
single nucleotide variant	NM_000038.6(APC):c.1549-1G>A	APC	Likely pathogenic	5	112163625	112163625	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA279777