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Items: 5

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
NTHL1
Single nucleotide variant
(splice acceptor variant)
not provided
+2 more
GPathogenic/Likely pathogenic
NTHL1
(T42K +1 more)
Single nucleotide variant
(missense variant +1 more)
Hereditary cancer-predisposing syndrome
+2 more
GUncertain significance
NTHL1
(R92C)
Single nucleotide variant
(missense variant +1 more)
not specified
+4 more
GConflicting classifications of pathogenicity
NTHL1
(Q82*)
Single nucleotide variant
(nonsense +1 more)
Familial adenomatous polyposis 3
+3 more
GPathogenic
NTHL1
Single nucleotide variant
(intron variant)
Familial adenomatous polyposis 3
+1 more
GUncertain significance
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