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Links from MedGen

Items: 4

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
APC
(H1036Y +12 more)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
GUncertain significance
APC
(K2033R +12 more)
Single nucleotide variant
(missense variant)
Familial adenomatous polyposis 1
GUncertain significance
APC
(L644I +12 more)
Single nucleotide variant
(missense variant)
Familial adenomatous polyposis 1
+3 more
GConflicting classifications of pathogenicity
APC
(M253V +5 more)
Single nucleotide variant
(missense variant +1 more)
Classic or attenuated familial adenomatous polyposis
+3 more
GUncertain significance
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