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
Insertion	NM_000038.6(APC):c.1885_1886insA (p.Leu629fs)	APC	Pathogenic	5	112170789	112170790	T	TA	criteria provided, single submitter	OMIM:611731.0017,ClinGen:CA006264
single nucleotide variant	NM_000038.6(APC):c.2805C>A (p.Tyr935Ter)	APC	Pathogenic	5	112174096	112174096	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA007805,OMIM:611731.0018
single nucleotide variant	NM_000038.6(APC):c.470G>A (p.Trp157Ter)	APC	Pathogenic	5	112111373	112111373	G	A	criteria provided, multiple submitters, no conflicts	OMIM:611731.0021,ClinGen:CA009701
single nucleotide variant	NM_000038.6(APC):c.643C>T (p.Gln215Ter)	APC	Pathogenic	5	112116598	112116598	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA011177,OMIM:611731.0022
Deletion	NM_000038.6(APC):c.5582_5585del (p.Asp1860_Ser1861insTer)	APC	Pathogenic	5	112176871	112176874	ATTCT	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA010520,OMIM:611731.0028
Deletion	NM_000038.6(APC):c.4612_4613del (p.Glu1538fs)	APC	Pathogenic	5	112175902	112175903	CAG	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA009642,OMIM:611731.0030
single nucleotide variant	NM_000038.6(APC):c.1495C>T (p.Arg499Ter)	APC	Pathogenic	5	112162891	112162891	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA005230,OMIM:611731.0031
single nucleotide variant	NM_000038.6(APC):c.1458T>G (p.Tyr486Ter)	APC	Pathogenic	5	112162854	112162854	T	G	criteria provided, single submitter	OMIM:611731.0032
Deletion	NM_000038.6(APC):c.1311_1312+1del	APC	Pathogenic	5	112155040	112155042	CAAG	C	reviewed by expert panel	OMIM:611731.0033,ClinGen:CA251620
Deletion	NM_000038.6(APC):c.1192_1193del (p.Lys398fs)	APC	Pathogenic	5	112154921	112154922	CAA	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA004076,OMIM:611731.0035