U.S. flag

An official website of the United States government

Format
Items per page
Sort by
Choose Destination

Search results

Items: 17

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
POLE
(T2202M)
Single nucleotide variant
(missense variant)
Colorectal cancer, susceptibility to, 12
+3 more
GUncertain significance
POLE
(C2109R)
Single nucleotide variant
(missense variant)
Colorectal cancer, susceptibility to, 12
+1 more
GUncertain significance
POLE
(A1528T)
Single nucleotide variant
(missense variant)
not provided
+4 more
GUncertain significance
POLE
(D1309E)
Single nucleotide variant
(missense variant)
Colorectal cancer, susceptibility to, 12
GUncertain significance
POLE
(L1189Q)
Single nucleotide variant
(missense variant)
Colorectal cancer, susceptibility to, 12
GUncertain significance
POLE
(A895T)
Single nucleotide variant
(missense variant)
Facial dysmorphism-immunodeficiency-livedo-short stature syndrome
+6 more
GConflicting classifications of pathogenicity
POLE
(R705Q)
Single nucleotide variant
(missense variant)
Diffuse midline glioma, H3 K27-altered
+2 more
GUncertain significance
POLE
(R680C)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
POLE
(A581G)
Single nucleotide variant
(missense variant)
Colorectal cancer, susceptibility to, 12
+1 more
GUncertain significance
POLE
(H580N)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
POLE
(Q390fs)
Deletion
(frameshift variant)
Colorectal cancer, susceptibility to, 12
+1 more
GConflicting classifications of pathogenicity
POLE
(R231C)
Single nucleotide variant
(missense variant)
not specified
+3 more
GConflicting classifications of pathogenicity
POLE
(I211L)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+2 more
GUncertain significance
POLE
(H144R)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+6 more
GUncertain significance
POLE
(K136I)
Single nucleotide variant
(missense variant)
not specified
+3 more
GUncertain significance
POLE
(R37W)
Single nucleotide variant
(missense variant)
Facial dysmorphism-immunodeficiency-livedo-short stature syndrome
+4 more
GUncertain significance
LOC130009266, POLE
(M1L)
Single nucleotide variant
(missense variant +1 more)
not provided
+4 more
GConflicting classifications of pathogenicity
Format
Items per page
Sort by
Choose Destination