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_001048174.2(MUTYH):c.800C>T (p.Pro267Leu)	MUTYH	Pathogenic/Likely pathogenic	1	45797887	45797887	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA014557
single nucleotide variant	NM_001048174.2(MUTYH):c.715C>T (p.Gln239Ter)	MUTYH	Pathogenic/Likely pathogenic	1	45797972	45797972	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA014333
single nucleotide variant	NM_001048174.2(MUTYH):c.637C>T (p.Arg213Trp)	MUTYH	Pathogenic/Likely pathogenic	1	45798130	45798130	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA014196
single nucleotide variant	NM_001048174.2(MUTYH):c.421-2A>C	MUTYH	Likely pathogenic	1	45798508	45798508	T	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA013693
single nucleotide variant	NM_001048174.2(MUTYH):c.305-1G>A	MUTYH	Pathogenic	1	45798843	45798843	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA013479
single nucleotide variant	NM_001048174.2(MUTYH):c.241C>T (p.Arg81Trp)	MUTYH	Pathogenic/Likely pathogenic	1	45799108	45799108	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA013370
single nucleotide variant	NM_000038.6(APC):c.70C>T (p.Arg24Ter)	APC	Pathogenic/Likely pathogenic	5	112090657	112090657	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA012843
single nucleotide variant	NM_000038.6(APC):c.221-2A>G	APC	Pathogenic/Likely pathogenic	5	112102884	112102884	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA007277
single nucleotide variant	NM_000038.6(APC):c.645+2T>G	APC	Likely pathogenic	5	112116602	112116602	T	G	criteria provided, single submitter	ClinGen:CA011369
single nucleotide variant	NM_000038.6(APC):c.847C>T (p.Arg283Ter)	APC	Pathogenic	5	112151204	112151204	C	T	reviewed by expert panel	ClinGen:CA015543