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Items: 3

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
GDF2
(P104L)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
GDF2
(R110Q)
Single nucleotide variant
(missense variant)
Telangiectasia, hereditary hemorrhagic, type 5
+1 more
GLikely pathogenic
GDF2
(R333W)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+3 more
GConflicting classifications of pathogenicity
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