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Links from MedGen

Items: 13

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
APOA5
(P215L)
Single nucleotide variant
(missense variant)
Hypertriglyceridemia 1
+2 more
GConflicting classifications of pathogenicity
APOA5
(S361R)
Single nucleotide variant
(missense variant)
Familial type 5 hyperlipoproteinemia
+1 more
GUncertain significance
APOA5
(Q275*)
Single nucleotide variant
(nonsense)
Hypertriglyceridemia 1
+3 more
GConflicting classifications of pathogenicity
CREB3L3
(K243fs +5 more)
Duplication
(frameshift variant +2 more)
Hypertriglyceridemia 2
Grisk factor
CREB3L3
(K243fs +2 more)
Duplication
(frameshift variant +1 more)
Hypertriglyceridemia 2
+1 more
GConflicting classifications of pathogenicity
APOA5
(D332fs)
Microsatellite
(frameshift variant)
Hypertriglyceridemia 1
+3 more
GPathogenic/Likely pathogenic
CREB3L3
(E238K +2 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GConflicting classifications of pathogenicity
APOA5
(Q97*)
Single nucleotide variant
(nonsense)
Cardiovascular phenotype
+4 more
GPathogenic
APOA5
Single nucleotide variant
(3 prime UTR variant)
not provided
GBenign
RP1
(N985Y)
Single nucleotide variant
(missense variant)
not provided
+3 more
GBenign/Likely benign
APOA5, LOC108491825
(S19W)
Single nucleotide variant
(missense variant)
Hypertriglyceridemia 1
+4 more
GBenign/Likely benign
APOA5
(G185C)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+2 more
GConflicting classifications of pathogenicity
LIPI
(C55Y +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GBenign
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