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Items: 6

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
PDE3A
(T445A +2 more)
Single nucleotide variant
(missense variant)
Brachydactyly-arterial hypertension syndrome
GPathogenic
PDE3A
(T445S +2 more)
Single nucleotide variant
(missense variant)
Brachydactyly-arterial hypertension syndrome
GPathogenic
PDE3A
(T445N +2 more)
Single nucleotide variant
(missense variant)
Brachydactyly-arterial hypertension syndrome
GPathogenic
PDE3A
(A447T +2 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GPathogenic
PDE3A
(A447V +2 more)
Single nucleotide variant
(missense variant)
Brachydactyly-arterial hypertension syndrome
GPathogenic
PDE3A
(G449V +2 more)
Single nucleotide variant
(missense variant)
not provided
GPathogenic
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