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
Duplication	NM_000038.6(APC):c.1229dup (p.Leu410fs)	APC	Pathogenic	5	112154954	112154955	C	CT	criteria provided, multiple submitters, no conflicts	ClinGen:CA279795
single nucleotide variant	NM_000038.6(APC):c.1297C>T (p.Gln433Ter)	APC	Pathogenic	5	112155026	112155026	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA279741
single nucleotide variant	NM_000038.6(APC):c.1312+1G>A	APC	Pathogenic/Likely pathogenic	5	112155042	112155042	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA279677
single nucleotide variant	NM_000038.6(APC):c.1312+3A>G	APC	Pathogenic/Likely pathogenic	5	112155044	112155044	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA279764
single nucleotide variant	NM_000038.6(APC):c.1409-1G>T	APC	Pathogenic/Likely pathogenic	5	112162804	112162804	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA279831
single nucleotide variant	NM_000038.6(APC):c.1433T>G (p.Leu478Ter)	APC	Pathogenic	5	112162829	112162829	T	G	criteria provided, single submitter	ClinGen:CA279696
single nucleotide variant	NM_000038.6(APC):c.1500T>A (p.Tyr500Ter)	APC	Pathogenic	5	112162896	112162896	T	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA248569
single nucleotide variant	NM_000038.6(APC):c.1549-1G>A	APC	Likely pathogenic	5	112163625	112163625	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA279777
Deletion	NM_000038.6(APC):c.1609del (p.Ser537fs)	APC	Pathogenic	5	112163684	112163684	GA	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA279666
single nucleotide variant	NM_000038.6(APC):c.1658G>A (p.Trp553Ter)	APC	Pathogenic	5	112164584	112164584	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA279734