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.266C>G (p.Ser89Ter)	APC	Pathogenic	5	112102931	112102931	C	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA10578287
single nucleotide variant	NM_000038.6(APC):c.311C>G (p.Ser104Ter)	APC	Pathogenic/Likely pathogenic	5	112102976	112102976	C	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA10578290
single nucleotide variant	NM_000038.6(APC):c.481C>T (p.Gln161Ter)	APC	Pathogenic	5	112111384	112111384	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA10578293
single nucleotide variant	NM_000038.6(APC):c.531+1G>C	APC	Pathogenic/Likely pathogenic	5	112111435	112111435	G	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA10578295
Duplication	NM_000038.6(APC):c.568_569dup (p.Tyr191fs)	APC	Pathogenic	5	112116522	112116523	G	GGA	criteria provided, single submitter	ClinGen:CA10578296
single nucleotide variant	NM_000038.6(APC):c.875T>A (p.Leu292Ter)	APC	Pathogenic	5	112151232	112151232	T	A	criteria provided, single submitter	ClinGen:CA10578301
single nucleotide variant	NM_000038.6(APC):c.933+1G>A	APC	Pathogenic/Likely pathogenic	5	112151291	112151291	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10578303
Deletion	NM_000038.6(APC):c.1124del (p.Gly375fs)	APC	Pathogenic	5	112154850	112154850	CG	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA10578305
single nucleotide variant	NM_000038.6(APC):c.1234C>T (p.Gln412Ter)	APC	Pathogenic	5	112154963	112154963	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA10578310
single nucleotide variant	NM_000038.6(APC):c.1417C>T (p.Gln473Ter)	APC	Pathogenic	5	112162813	112162813	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA10578316