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Items: 8

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ARFGEF1-DT, CPA6
(L413F)
Single nucleotide variant
(missense variant)
not specified
+2 more
GBenign/Likely benign
ARFGEF1-DT, CPA6
Single nucleotide variant
(synonymous variant)
not specified
+2 more
GBenign/Likely benign
ARFGEF1-DT, CPA6
Single nucleotide variant
(synonymous variant)
Familial temporal lobe epilepsy 5
+3 more
GBenign/Likely benign
ARFGEF1-DT, CPA6
Single nucleotide variant
(synonymous variant)
Febrile seizures, familial, 11
+1 more
GConflicting classifications of pathogenicity
ARFGEF1-DT, CPA6
(M285V)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ARFGEF1-DT, CPA6
(A270V)
Single nucleotide variant
(missense variant)
Familial temporal lobe epilepsy 5
+3 more
GConflicting classifications of pathogenicity
ARFGEF1-DT, CPA6
(G267R)
Single nucleotide variant
(missense variant)
Familial temporal lobe epilepsy 5
+4 more
GConflicting classifications of pathogenicity
ARFGEF1-DT, CPA6
(N249S)
Single nucleotide variant
(missense variant)
Familial temporal lobe epilepsy 5
+3 more
GBenign
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