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.2674G>T (p.Glu892Ter)	APC	Pathogenic	5	112173965	112173965	G	T	criteria provided, single submitter	-
single nucleotide variant	NM_000038.6(APC):c.3203C>A (p.Ser1068Ter)	APC	Pathogenic	5	112174494	112174494	C	A	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_000038.6(APC):c.3782del (p.Thr1261fs)	APC	Pathogenic	5	112175073	112175073	AC	A	criteria provided, single submitter	-
single nucleotide variant	NM_000038.6(APC):c.3871C>T (p.Gln1291Ter)	APC	Pathogenic	5	112175162	112175162	C	T	criteria provided, single submitter	-
Deletion	NM_000038.6(APC):c.7930_7934del (p.Ile2644fs)	APC	Pathogenic	5	112179219	112179223	CTAATT	C	criteria provided, multiple submitters, no conflicts	-
Deletion	NC_000005.9:g.112001178_112043328del	APC	Likely pathogenic	5	112001178	112043328	na	na	criteria provided, single submitter	-
Duplication	NM_000038.6(APC):c.132dup (p.Lys45fs)	APC	Pathogenic	5	112090718	112090719	T	TG	criteria provided, single submitter	-
Duplication	NM_000038.6(APC):c.1415dup (p.Gln473fs)	APC	Pathogenic	5	112162810	112162811	C	CT	criteria provided, single submitter	-
Deletion	NM_000038.6(APC):c.3488_3492del (p.Ser1163fs)	APC	Pathogenic	5	112174776	112174780	TATAGC	T	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000038.6(APC):c.3549T>G (p.Tyr1183Ter)	APC	Pathogenic	5	112174840	112174840	T	G	criteria provided, single submitter	-