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Items: 5

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CACNA1D
(E220Q)
Single nucleotide variant
(missense variant)
Aldosterone-producing adenoma with seizures and neurological abnormalities
GUncertain significance
CACNA1D
Single nucleotide variant
(intron variant)
not provided
+1 more
GConflicting classifications of pathogenicity
CACNA1D
(S1685A +2 more)
Single nucleotide variant
(missense variant)
Aldosterone-producing adenoma with seizures and neurological abnormalities
GUncertain significance
CACNA1D
(H1807R +2 more)
Single nucleotide variant
(missense variant)
Aldosterone-producing adenoma with seizures and neurological abnormalities
GUncertain significance
APEH, HEMK1
+177 more
Copy number gain
not provided
GPathogenic
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