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Items: 4

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
NTHL1
(W151* +2 more)
Single nucleotide variant
(nonsense)
Familial adenomatous polyposis 3
+2 more
GPathogenic/Likely pathogenic
NTHL1
(Q82*)
Single nucleotide variant
(nonsense +1 more)
Hereditary cancer-predisposing syndrome
+2 more
GPathogenic
NTHL1
(D64Y)
Single nucleotide variant
(missense variant +1 more)
Familial adenomatous polyposis 3
GUncertain significance
NTHL1
(A3S)
Single nucleotide variant
(missense variant +1 more)
Hereditary cancer-predisposing syndrome
+2 more
GConflicting classifications of pathogenicity
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