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Items: 18

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)
not provided
+4 more
GConflicting classifications of pathogenicity
ARFGEF1-DT, CPA6
(N249S)
Single nucleotide variant
(missense variant)
Familial temporal lobe epilepsy 5
+3 more
GBenign
CPA6
(Q207E)
Single nucleotide variant
(missense variant)
Global developmental delay
+3 more
GConflicting classifications of pathogenicity
CPA6
(G194D)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
CPA6
(S173C)
Single nucleotide variant
(missense variant)
Familial temporal lobe epilepsy 5
+2 more
GBenign
CPA6
(W148R)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
CPA6
(R128Q)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+3 more
GUncertain significance
CPA6
(H123D)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CPA6
(K106M)
Single nucleotide variant
(missense variant)
Febrile seizures, familial, 11
+1 more
GUncertain significance
CPA6
(F45L)
Single nucleotide variant
(missense variant)
not specified
+3 more
GBenign
CPA6
(F21I)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+2 more
GConflicting classifications of pathogenicity
CPA6
(W19fs)
Deletion
(frameshift variant)
Febrile seizures, familial, 11
+1 more
GConflicting classifications of pathogenicity
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