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.4075A>T (p.Lys1359Ter)	APC	Pathogenic	5	112175366	112175366	A	T	criteria provided, single submitter	ClinGen:CA279817
single nucleotide variant	NM_000038.6(APC):c.4495G>T (p.Gly1499Ter)	APC	Pathogenic	5	112175786	112175786	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA248507
single nucleotide variant	NM_000038.6(APC):c.4634C>G (p.Ser1545Ter)	APC	Pathogenic	5	112175925	112175925	C	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA279684
single nucleotide variant	NM_000038.6(APC):c.4645C>T (p.Gln1549Ter)	APC	Pathogenic	5	112175936	112175936	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA279766
Deletion	NM_000038.6(APC):c.4652_4655del (p.Lys1551fs)	APC	Pathogenic	5	112175940	112175943	GAGAA	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA279830
Deletion	NM_000038.6(APC):c.4733_4734del (p.Cys1578fs)	APC	Pathogenic	5	112176023	112176024	ATG	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA279695
Deletion	NM_000038.6(APC):c.5145del (p.Asp1715fs)	APC	Pathogenic	5	112176436	112176436	AC	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA279714
Duplication	NM_000038.6(APC):c.5804dup (p.Ser1936fs)	APC	Pathogenic	5	112177094	112177095	C	CA	criteria provided, multiple submitters, no conflicts	ClinGen:CA279798
Deletion	NM_000038.6(APC):c.5936del (p.Asn1979fs)	APC	Pathogenic/Likely pathogenic	5	112177224	112177224	GA	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA279794
Deletion	NM_000038.6(APC):c.5996del (p.Pro1999fs)	APC	Pathogenic	5	112177286	112177286	AC	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA279688