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.7438C>T (p.Gln2480Ter)	APC	Pathogenic	5	112178729	112178729	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA16037518
single nucleotide variant	NM_000038.6(APC):c.2063C>A (p.Ser688Ter)	APC	Pathogenic	5	112173354	112173354	C	A	criteria provided, single submitter	-
Deletion	NM_001048174.2(MUTYH):c.381del (p.Lys127fs)	MUTYH	Pathogenic/Likely pathogenic	1	45798629	45798629	AC	A	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_000038.6(APC):c.271del (p.Met91fs)	APC	Pathogenic	5	112102932	112102932	CA	C	criteria provided, single submitter	-
Insertion	NM_000038.6(APC):c.386_387insT (p.Glu129fs)	APC	Pathogenic	5	112103051	112103052	A	AT	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_000038.6(APC):c.1336del (p.Ile446fs)	APC	Pathogenic	5	112157616	112157616	GA	G	criteria provided, single submitter	-
Deletion	NM_000038.6(APC):c.1377_1383del (p.Glu460fs)	APC	Likely pathogenic	5	112157657	112157663	ATGAAGAG	A	criteria provided, single submitter	-
Duplication	NM_000038.6(APC):c.1431dup (p.Leu478fs)	APC	Pathogenic	5	112162825	112162826	G	GA	criteria provided, single submitter	-
Deletion	NM_000038.6(APC):c.1620del (p.Leu540fs)	APC	Pathogenic	5	112163697	112163697	TA	T	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_000038.6(APC):c.1652del (p.Leu551fs)	APC	Pathogenic	5	112164576	112164576	AT	A	criteria provided, multiple submitters, no conflicts	-