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.532-2A>G	APC	Pathogenic	5	112116485	112116485	A	G	criteria provided, single submitter	ClinGen:CA360617494
Deletion	NM_000038.6(APC):c.1102_1103del (p.Val368fs)	APC	Pathogenic	5	112154830	112154831	CTG	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA658760520
single nucleotide variant	NM_000038.6(APC):c.1903G>T (p.Gly635Ter)	APC	Pathogenic	5	112170807	112170807	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA16025482
Deletion	NM_000038.6(APC):c.1616_1623del (p.Asp539fs)	APC	Pathogenic	5	112163691	112163698	AAGACTTAC	A	criteria provided, single submitter	ClinGen:CA658796566
single nucleotide variant	NM_000038.6(APC):c.1626+2T>C	APC	Likely pathogenic	5	112163705	112163705	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA360620041
single nucleotide variant	NM_000038.6(APC):c.2021T>A (p.Leu674Ter)	APC	Pathogenic	5	112173312	112173312	T	A	criteria provided, single submitter	ClinGen:CA16025737
Deletion	NM_000038.6(APC):c.3783_3784del (p.Tyr1262fs)	APC	Pathogenic	5	112175074	112175075	CTT	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA658796563
single nucleotide variant	NM_000038.6(APC):c.5059C>T (p.Arg1687Ter)	APC	Pathogenic	5	112176350	112176350	C	T	criteria provided, single submitter	ClinGen:CA16032398
Deletion	NM_000038.6(APC):c.5860_5863del (p.Phe1954fs)	APC	Pathogenic	5	112177151	112177154	TTTTG	T	criteria provided, single submitter	ClinGen:CA658796579
Deletion	NM_000038.6(APC):c.4638_4642del (p.Asn1546fs)	APC	Pathogenic	5	112175926	112175930	CAAATG	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA446206637