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Links from MedGen

Items: 8

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CELA2A
(T70M)
Single nucleotide variant
(missense variant)
CELA2A-related disorder
+1 more
GPathogenic/Likely pathogenic
CELA2A
Single nucleotide variant
(splice donor variant)
Coronary artery disorder
+4 more
GPathogenic
CELA2A
(L85M)
Single nucleotide variant
(missense variant)
Coronary artery disorder
+4 more
GPathogenic
CELA2A
(D121N)
Single nucleotide variant
(missense variant)
Coronary artery disorder
+4 more
GPathogenic
LPL
(Q262*)
Single nucleotide variant
(nonsense)
Hypertriglyceridemia
+2 more
GConflicting classifications of pathogenicity
APOA5
(Q97*)
Single nucleotide variant
(nonsense)
Cardiovascular phenotype
+4 more
GPathogenic
Translocation
Hyperhydroxyprolinemia
+24 more
GUncertain significance
GCKR
(V103M)
Single nucleotide variant
(missense variant)
not provided
+3 more
GConflicting classifications of pathogenicity
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