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_000038.6(APC):c.1834_1838del (p.Ala612fs)	APC	Pathogenic	5	112170737	112170741	GTGCAC	G	criteria provided, single submitter	-
Deletion	NM_000038.6(APC):c.1854_1869del (p.Thr619fs)	APC	Pathogenic	5	112170756	112170771	TGGCACTCTTACTTACC	T	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_000038.6(APC):c.2083del (p.Gln695fs)	APC	Pathogenic	5	112173373	112173373	AC	A	criteria provided, multiple submitters, no conflicts	-
Indel	NM_000038.6(APC):c.2507_2511delinsG (p.Ser835_Ser836insTer)	APC	Pathogenic	5	112173798	112173802	CATCA	G	criteria provided, single submitter	-
Deletion	NM_000038.6(APC):c.2853del (p.Pro950_Tyr951insTer)	APC	Pathogenic	5	112174144	112174144	AT	A	criteria provided, single submitter	-
Duplication	NM_000038.6(APC):c.2859dup (p.Leu954fs)	APC	Pathogenic	5	112174147	112174148	C	CA	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_000038.6(APC):c.3123_3124del (p.Pro1043fs)	APC	Pathogenic	5	112174413	112174414	CAA	C	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000038.6(APC):c.3867T>A (p.Cys1289Ter)	APC	Pathogenic	5	112175158	112175158	T	A	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_000038.6(APC):c.4468del (p.His1490fs)	APC	Pathogenic	5	112175759	112175759	AC	A	criteria provided, single submitter	-
Insertion	NM_000038.6(APC):c.4969_4970insG (p.Leu1657fs)	APC	Pathogenic	5	112176260	112176261	C	CG	criteria provided, single submitter	-