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Items: 54

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
APC, LOC129994371
Deletion
Familial adenomatous polyposis 1
GPathogenic
APC, LOC129994371
Single nucleotide variant
(5 prime UTR variant +1 more)
Gastric adenocarcinoma and proximal polyposis of the stomach
GPathogenic
APC, LOC129994371
Single nucleotide variant
(5 prime UTR variant +1 more)
Familial adenomatous polyposis 1
GPathogenic
APC, LOC129994371
Single nucleotide variant
(5 prime UTR variant +1 more)
Familial adenomatous polyposis 1
+2 more
GLikely pathogenic
LOC129994371, APC
Single nucleotide variant
(5 prime UTR variant +1 more)
Familial adenomatous polyposis 1
+2 more
GPathogenic/Likely pathogenic
APC, LOC129994371
Single nucleotide variant
(5 prime UTR variant +1 more)
Familial adenomatous polyposis 1
+2 more
GPathogenic/Likely pathogenic
APC
Deletion
(splice acceptor variant)
Familial adenomatous polyposis 1
+1 more
GUncertain significance
APC
Single nucleotide variant
(splice acceptor variant)
Hereditary cancer-predisposing syndrome
+2 more
GPathogenic
APC
(W157* +3 more)
Single nucleotide variant
(nonsense +1 more)
Familial adenomatous polyposis 1
GPathogenic
APC
(D170fs +3 more)
Microsatellite
(frameshift variant +1 more)
Familial adenomatous polyposis 1
GPathogenic
APC
(Q208* +3 more)
Single nucleotide variant
(nonsense +1 more)
Familial adenomatous polyposis 1
+1 more
GPathogenic
APC
(Q215* +3 more)
Single nucleotide variant
(nonsense +1 more)
not specified
+8 more
GPathogenic
APC
Microsatellite
Familial adenomatous polyposis 1
+1 more
GPathogenic
APC
(S280* +5 more)
Single nucleotide variant
(nonsense +1 more)
Familial adenomatous polyposis 1
+1 more
GPathogenic
APC
(R302* +6 more)
Single nucleotide variant
(nonsense)
Hereditary cancer-predisposing syndrome
+5 more
GPathogenic/Likely pathogenic
APC
(E313fs +6 more)
Deletion
(frameshift variant +1 more)
Familial adenomatous polyposis 1
+3 more
GPathogenic
APC
(P295fs +6 more)
Insertion
(frameshift variant +1 more)
Familial adenomatous polyposis 1
GPathogenic
APC
(I357fs +6 more)
Duplication
(frameshift variant +1 more)
Familial adenomatous polyposis 1
GPathogenic
APC
(S339fs +6 more)
Microsatellite
(frameshift variant +1 more)
Hereditary cancer-predisposing syndrome
+2 more
GPathogenic
APC
(K339fs +6 more)
Deletion
(frameshift variant +1 more)
Familial adenomatous polyposis 1
+2 more
GPathogenic
APC
(R414C +10 more)
Single nucleotide variant
(missense variant)
Familial adenomatous polyposis 1
GBenign
APC
Deletion
(splice donor variant)
Familial adenomatous polyposis 1
GPathogenic
APC
(S356fs +10 more)
Deletion
(frameshift variant)
Familial adenomatous polyposis 1
GPathogenic
APC
(Y486* +12 more)
Single nucleotide variant
(nonsense)
Familial adenomatous polyposis 1
GPathogenic
APC
(R499* +12 more)
Single nucleotide variant
(nonsense)
Familial adenomatous polyposis 1
+3 more
GPathogenic
APC
(Y482* +12 more)
Single nucleotide variant
(nonsense)
Hereditary cancer-predisposing syndrome
+2 more
GPathogenic
APC
(Q541* +12 more)
Single nucleotide variant
(nonsense)
Familial adenomatous polyposis 1
+2 more
GPathogenic
APC
(R554* +12 more)
Single nucleotide variant
(nonsense)
Hepatocellular carcinoma
+8 more
GPathogenic
APC
(R564* +12 more)
Single nucleotide variant
(nonsense)
Familial adenomatous polyposis 1
+4 more
GPathogenic
APC
(V475fs +12 more)
Deletion
(frameshift variant)
Hepatocellular carcinoma
GPathogenic
APC
(L469fs +12 more)
Insertion
(frameshift variant)
Familial adenomatous polyposis 1
GPathogenic
REEP5, SRP19
+4 more
Deletion
Familial adenomatous polyposis 1
GPathogenic
SRP19, REEP5
+2 more
Deletion
Familial adenomatous polyposis 1
GPathogenic
APC
(L698* +12 more)
Single nucleotide variant
(nonsense)
Familial adenomatous polyposis 1
GPathogenic
APC
(S713* +12 more)
Single nucleotide variant
(nonsense)
Familial adenomatous polyposis 1
+1 more
GPathogenic
APC
(Y935* +12 more)
Single nucleotide variant
(nonsense)
Hepatocellular carcinoma
+8 more
GPathogenic
APC
(Q1067* +12 more)
Single nucleotide variant
(nonsense)
Hereditary cancer-predisposing syndrome
+1 more
GPathogenic
APC
(G1120E +12 more)
Single nucleotide variant
(missense variant)
Familial adenomatous polyposis 1
+1 more
GUncertain significance
APC
(I1307K +12 more)
Single nucleotide variant
(missense variant)
Familial adenomatous polyposis 1
+8 more
GConflicting classifications of pathogenicity; association; risk factor
APC
(E1149fs +12 more)
Microsatellite
(frameshift variant)
Familial adenomatous polyposis 1
+1 more
GPathogenic
OOncogenic
APC
(E1317Q +12 more)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+4 more
GBenign/Likely benign
APC
(Q1338* +12 more)
Single nucleotide variant
(nonsense)
Familial adenomatous polyposis 1
GPathogenic
APC
(S1395C +12 more)
Single nucleotide variant
(missense variant)
Hepatoblastoma
GPathogenic
APC
(E1363fs +12 more)
Microsatellite
(frameshift variant)
Hereditary cancer-predisposing syndrome
+2 more
GPathogenic
APC
(S1305fs +12 more)
Microsatellite
(frameshift variant)
Familial adenomatous polyposis 1
+4 more
GPathogenic
APC
Insertion
Desmoid disease, hereditary
GPathogenic
APC
(E1255fs +12 more)
Deletion
(frameshift variant)
Familial adenomatous polyposis 1
+8 more
GPathogenic
APC
Deletion
(nonsense)
Familial adenomatous polyposis 1
+1 more
GPathogenic
APC
(D1816fs +12 more)
Microsatellite
(frameshift variant)
not provided
+2 more
GPathogenic
APC
(N1880fs +12 more)
Deletion
(frameshift variant)
Familial adenomatous polyposis 1
GPathogenic
APC
Deletion
Familial adenomatous polyposis 1
GPathogenic
APC
Deletion
Desmoid tumor caused by somatic mutation
GPathogenic
APC
Deletion
Desmoid disease, hereditary
GPathogenic
APC
Insertion
Desmoid disease, hereditary
GPathogenic
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