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Items: 19

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
MUTYH
(G382D +8 more)
Single nucleotide variant
(missense variant +1 more)
Ovarian carcinoma
+8 more
GPathogenic/Likely pathogenic
APC
(R1128H +12 more)
Single nucleotide variant
(missense variant)
Classic or attenuated familial adenomatous polyposis
+4 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
POLE
(R1826P)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
POLE
(S1687F)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
POLE
(R1634H)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+4 more
GConflicting classifications of pathogenicity
POLE
(S1391C)
Single nucleotide variant
(missense variant)
Colorectal cancer, susceptibility to, 12
+3 more
GUncertain significance
POLE
(V1249M)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
POLE
Duplication
(inframe_insertion)
not provided
GUncertain significance
POLE
(R665W)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
POLE
(P282S)
Single nucleotide variant
(missense variant)
not provided
+4 more
GConflicting classifications of pathogenicity
POLE
Single nucleotide variant
(splice donor variant)
not provided
GLikely pathogenic
POLE
(S117A)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
LOC130009266, POLE
(M1K)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GConflicting classifications of pathogenicity
POLD1
(A171S)
Single nucleotide variant
(missense variant +1 more)
Hereditary cancer-predisposing syndrome
+2 more
GLikely benign
POLD1
(V312M)
Single nucleotide variant
(missense variant +1 more)
Hereditary cancer-predisposing syndrome
+2 more
GUncertain significance
POLD1
(R521Q)
Single nucleotide variant
(missense variant +1 more)
Colorectal cancer, susceptibility to, 10
+4 more
GConflicting classifications of pathogenicity
POLD1
(L838M +1 more)
Single nucleotide variant
(missense variant +1 more)
Colorectal cancer, susceptibility to, 10
+1 more
GUncertain significance
POLD1
(M824V +1 more)
Single nucleotide variant
(missense variant +1 more)
Colorectal cancer, susceptibility to, 10
+2 more
GUncertain significance
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