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.1409-2A>C	APC	Pathogenic/Likely pathogenic	5	112162803	112162803	A	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA16618072
Deletion	NM_000038.6(APC):c.1526del (p.Thr509fs)	APC	Pathogenic	5	112162922	112162922	AC	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA16618073
single nucleotide variant	NM_000038.6(APC):c.1778G>A (p.Trp593Ter)	APC	Pathogenic	5	112170682	112170682	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA16025203
Deletion	NM_000038.6(APC):c.1862del (p.Thr621fs)	APC	Pathogenic	5	112170766	112170766	AC	A	criteria provided, single submitter	ClinGen:CA16618075
single nucleotide variant	NM_000038.6(APC):c.1866C>G (p.Tyr622Ter)	APC	Pathogenic	5	112170770	112170770	C	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA16025402
Deletion	NM_000038.6(APC):c.1886del (p.Thr628_Leu629insTer)	APC	Pathogenic	5	112170788	112170788	CT	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA16618076
single nucleotide variant	NM_000038.6(APC):c.1956C>T (p.His652=)	APC	Likely pathogenic	5	112170860	112170860	C	T	reviewed by expert panel	ClinGen:CA16618077
Duplication	NM_000038.6(APC):c.2567dup (p.Gly857fs)	APC	Pathogenic	5	112173857	112173858	C	CG	criteria provided, multiple submitters, no conflicts	ClinGen:CA16618078
single nucleotide variant	NM_000038.6(APC):c.2677G>T (p.Glu893Ter)	APC	Pathogenic	5	112173968	112173968	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA16027177
Indel	NM_000038.6(APC):c.2964_2965delinsT (p.Glu988fs)	APC	Pathogenic	5	112174255	112174256	AG	T	criteria provided, single submitter	ClinGen:CA16618079