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
Deletion	NM_001048174.2(MUTYH):c.424del (p.Glu141_Val142insTer)	MUTYH	Pathogenic/Likely pathogenic	1	45798503	45798503	AC	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA658683153
single nucleotide variant	NM_000038.6(APC):c.1626+1G>A	APC	Pathogenic/Likely pathogenic	5	112163704	112163704	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA360620035
single nucleotide variant	NM_001048174.2(MUTYH):c.1102+1G>T	MUTYH	Pathogenic/Likely pathogenic	1	45797332	45797332	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA340133234
single nucleotide variant	NM_001048174.2(MUTYH):c.268G>T (p.Glu90Ter)	MUTYH	Pathogenic/Likely pathogenic	1	45798993	45798993	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA340136310
Deletion	NM_000038.6(APC):c.1705del (p.Ser568_Val569insTer)	APC	Pathogenic/Likely pathogenic	5	112164631	112164631	TG	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA658655950
Duplication	NM_000038.6(APC):c.7692dup (p.Arg2565fs)	APC	Pathogenic/Likely pathogenic	5	112178981	112178982	T	TG	criteria provided, multiple submitters, no conflicts	ClinGen:CA658657463
Duplication	NM_000038.6(APC):c.4970dup (p.Ser1658fs)	APC	Pathogenic/Likely pathogenic	5	112176260	112176261	C	CT	criteria provided, multiple submitters, no conflicts	ClinGen:CA658655957
single nucleotide variant	NM_000038.6(APC):c.645+1G>T	APC	Pathogenic/Likely pathogenic	5	112116601	112116601	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA360617499
single nucleotide variant	NM_001048174.2(MUTYH):c.606G>A (p.Gln202=)	MUTYH	Pathogenic/Likely pathogenic	1	45798246	45798246	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA21838430
single nucleotide variant	NM_001048174.2(MUTYH):c.164C>G (p.Ser55Ter)	MUTYH	Pathogenic/Likely pathogenic	1	45799185	45799185	G	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA057154