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Links from OMIM

Items: 9

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
APOC3
(F31V)
Single nucleotide variant
(missense variant)
Apolipoprotein c-III deficiency
GUncertain significance
APOC3
(Q54R)
Single nucleotide variant
(missense variant)
Apolipoprotein c-III deficiency
GUncertain significance
APOC3
(V50M)
Single nucleotide variant
(missense variant)
Apolipoprotein c-III deficiency
GUncertain significance
APOC3
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GBenign
APOC3
Single nucleotide variant
(splice donor variant)
not specified
GLikely benign
APOC3
(A43T)
Single nucleotide variant
(missense variant)
not specified
+2 more
GConflicting classifications of pathogenicity
APOC3
Single nucleotide variant
(splice donor variant)
not specified
+3 more
GConflicting classifications of pathogenicity
APOC3
(R19*)
Single nucleotide variant
(nonsense)
not specified
+3 more
GConflicting classifications of pathogenicity
APOC3
(K78E)
Single nucleotide variant
(missense variant)
Apolipoprotein c-III deficiency
GPathogenic
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