C2713442[trait identifier] AND "Institute of Medical Genetics and Appl - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 42248	NM_000038.6(APC):c.694C>T (p.Arg232Ter)	APC (R232* +3 more)	Single nucleotide variant (nonsense +2 more)	Carcinoma of colon +7 more	GConflicting classifications of pathogenicity
Select item 411344	NM_000038.6(APC):c.834G>A (p.Gln278=)	APC	Single nucleotide variant (synonymous variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 987441	NM_000038.6(APC):c.1863_1866del (p.Tyr622fs)	APC (Y339fs +12 more)	Microsatellite (frameshift variant)	Familial adenomatous polyposis 1 +1 more	GPathogenic
Select item 88913	NM_000038.6(APC):c.3183_3187del (p.Lys1061_Gln1062insTer)	APC	Deletion (frameshift variant +1 more)	Classic or attenuated familial adenomatous polyposis +5 more	GPathogenic
Select item 433647	NM_000038.6(APC):c.3497_3501del (p.Lys1165_Tyr1166insTer)	APC	Deletion (nonsense)	Familial adenomatous polyposis 1 +1 more	GPathogenic
Select item 232247	NM_000038.6(APC):c.3925_3928del (p.Glu1309fs)	APC (E1026fs +12 more)	Deletion (frameshift variant)	Hereditary cancer-predisposing syndrome +2 more	GPathogenic
Select item 811	NM_000038.6(APC):c.4393_4394del (p.Ser1465fs)	APC (S1305fs +12 more)	Microsatellite (frameshift variant)	Familial adenomatous polyposis 1 +3 more	GConflicting classifications of pathogenicity
Select item 1711104	NM_000038.6(APC):c.4954del (p.Ser1652fs)	APC (S1369fs +12 more)	Deletion (frameshift variant)	Familial adenomatous polyposis 1	GPathogenic

ClinVar