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
Deletion	NM_000038.6(APC):c.2547_2550del (p.Asp849fs)	APC	Pathogenic	5	112173835	112173838	AAGAT	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA007595
single nucleotide variant	NM_000038.6(APC):c.2731G>T (p.Glu911Ter)	APC	Pathogenic	5	112174022	112174022	G	T	criteria provided, single submitter	ClinGen:CA007762
Deletion	NM_000038.6(APC):c.2805del (p.Thr934_Tyr935insTer)	APC	Pathogenic	5	112174096	112174096	AC	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA007827
single nucleotide variant	NM_000038.6(APC):c.3982C>T (p.Gln1328Ter)	APC	Pathogenic	5	112175273	112175273	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA008851
Duplication	NM_000038.6(APC):c.4473dup (p.Ala1492fs)	APC	Pathogenic	5	112175760	112175761	A	AT	criteria provided, multiple submitters, no conflicts	ClinGen:CA009567
single nucleotide variant	NM_000038.6(APC):c.1213C>T (p.Arg405Ter)	APC	Pathogenic	5	112154942	112154942	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA004094
single nucleotide variant	NM_000038.6(APC):c.2413C>T (p.Arg805Ter)	APC	Pathogenic	5	112173704	112173704	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA007452
single nucleotide variant	NM_000038.6(APC):c.3088A>T (p.Lys1030Ter)	APC	Pathogenic	5	112174379	112174379	A	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA008039
single nucleotide variant	NM_000038.6(APC):c.3472A>T (p.Arg1158Ter)	APC	Pathogenic/Likely pathogenic	5	112174763	112174763	A	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA008436
Deletion	NM_000038.6(APC):c.4875del (p.Gln1625fs)	APC	Pathogenic/Likely pathogenic	5	112176165	112176165	CA	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA009772