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.4666dup (p.Thr1556fs)	APC	Pathogenic	5	112175951	112175952	G	GA	criteria provided, multiple submitters, no conflicts	ClinGen:CA16021317
Duplication	NM_000038.6(APC):c.4682dup (p.Asp1562fs)	APC	Pathogenic	5	112175969	112175970	G	GA	criteria provided, single submitter	ClinGen:CA446206669
Duplication	NM_000038.6(APC):c.4737dup (p.Ile1580fs)	APC	Pathogenic	5	112176026	112176027	A	AT	criteria provided, single submitter	ClinGen:CA645369381
Deletion	NM_000038.6(APC):c.4890del (p.Ser1631fs)	APC	Pathogenic	5	112176180	112176180	GT	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA645369375
Deletion	NM_000038.6(APC):c.5520del (p.Phe1840fs)	APC	Pathogenic	5	112176808	112176808	CT	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA645369379
Duplication	NM_000038.6(APC):c.5822dup (p.Asp1942fs)	APC	Pathogenic	5	112177111	112177112	A	AC	criteria provided, single submitter	ClinGen:CA645369383
single nucleotide variant	NM_000038.6(APC):c.6905C>G (p.Ser2302Ter)	APC	Pathogenic	5	112178196	112178196	C	G	criteria provided, single submitter	ClinGen:CA046422
Deletion	NM_000038.6(APC):c.8047del (p.Ile2683fs)	APC	Pathogenic	5	112179338	112179338	GA	G	criteria provided, single submitter	ClinGen:CA645369385
Deletion	NC_000001.11:g.(?_45329306)_(45333324_?)del	MUTYH	Pathogenic	1	45794978	45798996	na	na	criteria provided, single submitter	-
Deletion	NC_000005.10:g.(?_112707312)_(112707902_?)del	APC	Pathogenic	5	112043009	112043599	na	na	criteria provided, single submitter	-