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Items: 22

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
POLE
(F48fs)
Deletion
(frameshift variant)
not provided
GPathogenic
NTHL1
(G278S +2 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
NTHL1
(I168T +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+4 more
GConflicting classifications of pathogenicity
MUTYH
Indel
(inframe_indel +1 more)
Familial adenomatous polyposis 2
GPathogenic
MUTYH
(R247G +7 more)
Single nucleotide variant
(missense variant +1 more)
Familial adenomatous polyposis 2
+1 more
GLikely pathogenic
APC
(H2816P +12 more)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
GUncertain significance
APC
(R396G +10 more)
Single nucleotide variant
(missense variant)
Familial adenomatous polyposis 1
GUncertain significance
POLE
(M66I)
Single nucleotide variant
(missense variant)
Facial dysmorphism-immunodeficiency-livedo-short stature syndrome
+2 more
GUncertain significance
APC
(L638V +12 more)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+3 more
GConflicting classifications of pathogenicity
AXIN2
(R714Q +1 more)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+2 more
GUncertain significance
POLD1
(V489M)
Single nucleotide variant
(missense variant +1 more)
not provided
+2 more
GUncertain significance
POLE
(R1286H)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
POLE
(A2239V)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
POLD1
(R174W)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GUncertain significance
POLD1
(Q684H +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+5 more
GConflicting classifications of pathogenicity
POLD1
Single nucleotide variant
(intron variant)
not provided
+3 more
GBenign/Likely benign
APC
(S89* +3 more)
Single nucleotide variant
(nonsense +1 more)
Familial adenomatous polyposis 1
+1 more
GPathogenic
GALNT12
(D303N)
Single nucleotide variant
(missense variant)
not provided
+3 more
GConflicting classifications of pathogenicity
APC
(K59fs +2 more)
Deletion
(frameshift variant +1 more)
not provided
+4 more
GPathogenic
AXIN2
(R68Q)
Single nucleotide variant
(missense variant)
AXIN2-related disorder
+3 more
GConflicting classifications of pathogenicity
MUTYH
(I223V +7 more)
Single nucleotide variant
(missense variant +1 more)
not specified
+4 more
GUncertain significance
APC
(P2467T +12 more)
Single nucleotide variant
(missense variant)
Colorectal cancer
+4 more
GConflicting classifications of pathogenicity
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