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.994C>T (p.Arg332Ter)	APC	Pathogenic	5	112154723	112154723	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA016038
single nucleotide variant	NM_000038.6(APC):c.2805C>G (p.Tyr935Ter)	APC	Pathogenic	5	112174096	112174096	C	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA007811
single nucleotide variant	NM_000038.6(APC):c.2971G>T (p.Glu991Ter)	APC	Pathogenic	5	112174262	112174262	G	T	criteria provided, single submitter	ClinGen:CA007967
single nucleotide variant	NM_000038.6(APC):c.4621C>T (p.Gln1541Ter)	APC	Pathogenic	5	112175912	112175912	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA009662
Deletion	NM_000038.6(APC):c.4669_4670del (p.Thr1556_Ile1557insTer)	APC	Pathogenic	5	112175959	112175960	CTA	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA009682
Indel	NM_000038.6(APC):c.4824_4827delinsTAC (p.Lys1608fs)	APC	Pathogenic	5	112176115	112176118	ACCA	TAC	criteria provided, multiple submitters, no conflicts	ClinGen:CA009761
Deletion	NM_000038.6(APC):c.5757del (p.Arg1920fs)	APC	Pathogenic	5	112177048	112177048	AT	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA010629
Deletion	NM_000038.6(APC):c.6126_6141del (p.Ile2043fs)	APC	Pathogenic	5	112177413	112177428	GAATGTATAAGCTCCGC	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA010951
single nucleotide variant	NM_000038.6(APC):c.6709C>T (p.Arg2237Ter)	APC	Pathogenic	5	112178000	112178000	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA012440
single nucleotide variant	NM_000038.6(APC):c.925G>T (p.Gly309Ter)	APC	Pathogenic	5	112151282	112151282	G	T	criteria provided, single submitter	ClinGen:CA015663