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
Duplication	NM_000038.6(APC):c.4241dup (p.Ser1415fs)	APC	Pathogenic	5	112175531	112175532	G	GT	criteria provided, multiple submitters, no conflicts	ClinGen:CA645543800
Deletion	NM_000038.6(APC):c.4682del (p.Lys1561fs)	APC	Pathogenic	5	112175970	112175970	GA	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA658655951
Insertion	NM_000038.6(APC):c.163_164insG (p.Ile55fs)	APC	Pathogenic	5	112102050	112102051	A	AG	criteria provided, multiple submitters, no conflicts	ClinGen:CA658657469
Deletion	NM_000038.6(APC):c.4778del (p.Lys1593fs)	APC	Pathogenic	5	112176064	112176064	CA	C	reviewed by expert panel	ClinGen:CA658655953
Deletion	NM_000038.6(APC):c.465del (p.Asp156fs)	APC	Pathogenic	5	112111364	112111364	GA	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA658657475
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
Deletion	NM_000038.6(APC):c.6390_6391del (p.Asp2131fs)	APC	Pathogenic	5	112177681	112177682	CTG	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA658655997
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.5572C>T (p.Arg1858Ter)	APC	Pathogenic	5	112176863	112176863	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA16033525
Deletion	NM_000038.6(APC):c.5920del (p.Asp1974fs)	APC	Pathogenic	5	112177211	112177211	TG	T	criteria provided, single submitter	ClinGen:CA658655980