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Items: 4

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ARFGEF1-DT, CPA6
(K315N)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ARFGEF1-DT, CPA6
(R311*)
Single nucleotide variant
(nonsense)
Epilepsy
+1 more
GConflicting classifications of pathogenicity
ARFGEF1-DT, CPA6
(L310F)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ARFGEF1-DT, CPA6
(N249S)
Single nucleotide variant
(missense variant)
not provided
+3 more
GBenign
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