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Links from MedGen

Items: 9

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LRP6
(D735N)
Single nucleotide variant
(missense variant)
Coronary artery disease, autosomal dominant 2
+1 more
GUncertain significance
LRP6
(Y373C)
Single nucleotide variant
(missense variant)
Coronary artery disease, autosomal dominant 2
+1 more
GUncertain significance
LRP6
Single nucleotide variant
(synonymous variant)
not provided
+3 more
GBenign
LRP6
Single nucleotide variant
(synonymous variant)
not provided
+3 more
GBenign
LRP6
(Q740*)
Single nucleotide variant
(nonsense)
Tooth agenesis, selective, 7
+1 more
GPathogenic
LRP6
(R360H)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
LRP6
(R473Q)
Single nucleotide variant
(missense variant)
Coronary artery disease, autosomal dominant 2
GPathogenic
LRP6
(N433S)
Single nucleotide variant
(missense variant)
Coronary artery disease, autosomal dominant 2
GPathogenic
LRP6
(R611C)
Single nucleotide variant
(missense variant)
LRP6-related disorder
GPathogenic
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