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Items: 9

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
APC, LOC129994371
Single nucleotide variant
(5 prime UTR variant +1 more)
Familial adenomatous polyposis 1
+2 more
GPathogenic/Likely pathogenic
APC
(R232* +3 more)
Single nucleotide variant
(nonsense +2 more)
Familial multiple polyposis syndrome
+7 more
GConflicting classifications of pathogenicity
APC
(G183fs +18 more)
Deletion
(frameshift variant)
Familial adenomatous polyposis 1
GLikely pathogenic
APC
(S729* +12 more)
Single nucleotide variant
(nonsense)
Hereditary cancer-predisposing syndrome
+1 more
GConflicting classifications of pathogenicity
APC
(Y935* +12 more)
Single nucleotide variant
(nonsense)
Colorectal cancer, susceptibility to
+8 more
GPathogenic
APC
(C1103fs +18 more)
Deletion
(frameshift variant +1 more)
Familial adenomatous polyposis 1
GPathogenic/Likely pathogenic
APC
(Q1008fs +18 more)
Deletion
(frameshift variant +1 more)
Familial adenomatous polyposis 1
GUncertain significance
APC
(E1149fs +12 more)
Microsatellite
(frameshift variant)
Familial adenomatous polyposis 1
GPathogenic
APC
(S1305fs +12 more)
Microsatellite
(frameshift variant)
Hereditary cancer-predisposing syndrome
+3 more
GConflicting classifications of pathogenicity
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