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Items: 1 to 100 of 1136

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ALS2CL, AMIGO3
+379 more
Copy number gain
See cases
GPathogenic
ABHD14A, ABHD14A-ACY1
+329 more
Copy number loss
See cases
GPathogenic
CACNA2D2, CYB561D2
+1 more
Single nucleotide variant
(synonymous variant)
Early infantile epileptic encephalopathy with suppression bursts
GLikely benign
CACNA2D2, CYB561D2
+1 more
(R1074fs +3 more)
Deletion
(frameshift variant)
Early infantile epileptic encephalopathy with suppression bursts
GUncertain significance
CYB561D2, LOC127898564
+1 more
(V1144fs +3 more)
Deletion
(frameshift variant)
Early infantile epileptic encephalopathy with suppression bursts
GUncertain significance
CACNA2D2, CYB561D2
+1 more
(R1075G +4 more)
Single nucleotide variant
(missense variant)
Early infantile epileptic encephalopathy with suppression bursts
GUncertain significance
CACNA2D2, CYB561D2
+1 more
(R1075C +3 more)
Single nucleotide variant
(missense variant)
Early infantile epileptic encephalopathy with suppression bursts
GUncertain significance
CACNA2D2, CYB561D2
+1 more
Single nucleotide variant
(synonymous variant)
Early infantile epileptic encephalopathy with suppression bursts
GLikely benign
CACNA2D2, CYB561D2
+1 more
Single nucleotide variant
(synonymous variant)
Early infantile epileptic encephalopathy with suppression bursts
GLikely benign
CACNA2D2, CYB561D2
+1 more
Single nucleotide variant
(synonymous variant)
Early infantile epileptic encephalopathy with suppression bursts
GLikely benign
CACNA2D2, CYB561D2
+1 more
Single nucleotide variant
(synonymous variant)
Early infantile epileptic encephalopathy with suppression bursts
GLikely benign
CACNA2D2, CYB561D2
+1 more
Single nucleotide variant
(synonymous variant)
Early infantile epileptic encephalopathy with suppression bursts
GLikely benign
CACNA2D2, CYB561D2
+1 more
(Q1134H +3 more)
Single nucleotide variant
(missense variant)
Early infantile epileptic encephalopathy with suppression bursts
+2 more
GConflicting classifications of pathogenicity
CYB561D2, LOC127898564
+1 more
(P1133L +3 more)
Single nucleotide variant
(missense variant)
CACNA2D2-related disorder
+4 more
GBenign/Likely benign
CACNA2D2, CYB561D2
+1 more
(P1133S +4 more)
Single nucleotide variant
(missense variant)
Early infantile epileptic encephalopathy with suppression bursts
GUncertain significance
CACNA2D2, CYB561D2
+1 more
Single nucleotide variant
(synonymous variant)
not specified
+2 more
GBenign
CACNA2D2, CYB561D2
+1 more
(P1131L +3 more)
Single nucleotide variant
(missense variant)
Early infantile epileptic encephalopathy with suppression bursts
GUncertain significance
CACNA2D2, CYB561D2
+1 more
(Q1134fs +3 more)
Duplication
(frameshift variant)
Early infantile epileptic encephalopathy with suppression bursts
GUncertain significance
LOC127898564, CACNA2D2
+1 more
Single nucleotide variant
(synonymous variant)
Early infantile epileptic encephalopathy with suppression bursts
GUncertain significance
CYB561D2, LOC127898564
+1 more
Single nucleotide variant
(synonymous variant)
Early infantile epileptic encephalopathy with suppression bursts
GLikely benign
CACNA2D2, CYB561D2
+1 more
(P1062L +3 more)
Single nucleotide variant
(missense variant)
Early infantile epileptic encephalopathy with suppression bursts
GUncertain significance
CACNA2D2, CYB561D2
+1 more
Single nucleotide variant
(synonymous variant)
Early infantile epileptic encephalopathy with suppression bursts
GLikely benign
CACNA2D2, CYB561D2
+1 more
Single nucleotide variant
(synonymous variant)
Early infantile epileptic encephalopathy with suppression bursts
GLikely benign
CACNA2D2, CYB561D2
+1 more
Single nucleotide variant
(synonymous variant)
Early infantile epileptic encephalopathy with suppression bursts
GLikely benign
CACNA2D2, CYB561D2
+1 more
Single nucleotide variant
(synonymous variant)
Early infantile epileptic encephalopathy with suppression bursts
GLikely benign
CACNA2D2, CYB561D2
+1 more
Single nucleotide variant
(synonymous variant)
Early infantile epileptic encephalopathy with suppression bursts
GLikely benign
CACNA2D2, CYB561D2
+1 more
(L1124F +3 more)
Single nucleotide variant
(missense variant)
Early infantile epileptic encephalopathy with suppression bursts
+1 more
GUncertain significance
CACNA2D2, CYB561D2
+1 more
Single nucleotide variant
(synonymous variant)
Early infantile epileptic encephalopathy with suppression bursts
GLikely benign
CACNA2D2, CYB561D2
+1 more
Single nucleotide variant
(synonymous variant)
Early infantile epileptic encephalopathy with suppression bursts
+1 more
GBenign
CACNA2D2, CYB561D2
+1 more
(L1123V +4 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
CACNA2D2, CYB561D2
+1 more
(L1054R +4 more)
Single nucleotide variant
(missense variant)
Cerebellar atrophy with seizures and variable developmental delay
GLikely pathogenic
CACNA2D2, CYB561D2
+1 more
Single nucleotide variant
(synonymous variant)
Early infantile epileptic encephalopathy with suppression bursts
GLikely benign
CACNA2D2, CYB561D2
+1 more
(V1124I +3 more)
Single nucleotide variant
(missense variant)
Early infantile epileptic encephalopathy with suppression bursts
+2 more
GBenign
CACNA2D2, CYB561D2
+1 more
Single nucleotide variant
(synonymous variant)
Early infantile epileptic encephalopathy with suppression bursts
GLikely benign
CACNA2D2, CYB561D2
+1 more
Single nucleotide variant
(synonymous variant)
Early infantile epileptic encephalopathy with suppression bursts
GLikely benign
CACNA2D2, CYB561D2
+1 more
Single nucleotide variant
(synonymous variant)
CACNA2D2-related disorder
+1 more
GLikely benign
CACNA2D2, CYB561D2
+1 more
(P1118L +3 more)
Single nucleotide variant
(missense variant)
Early infantile epileptic encephalopathy with suppression bursts
GUncertain significance
CACNA2D2, CYB561D2
+1 more
Single nucleotide variant
(synonymous variant)
Early infantile epileptic encephalopathy with suppression bursts
GLikely benign
CACNA2D2, CYB561D2
+1 more
(F1109C +3 more)
Single nucleotide variant
(missense variant)
Early infantile epileptic encephalopathy with suppression bursts
GUncertain significance
CACNA2D2, CYB561D2
+1 more
Single nucleotide variant
(synonymous variant)
Early infantile epileptic encephalopathy with suppression bursts
GLikely benign
LOC127898564, CACNA2D2
+1 more
Single nucleotide variant
(synonymous variant)
Early infantile epileptic encephalopathy with suppression bursts
GLikely benign
CACNA2D2, CYB561D2
+1 more
Single nucleotide variant
(synonymous variant)
Early infantile epileptic encephalopathy with suppression bursts
GLikely benign
CYB561D2, LOC127898564
+1 more
(R1105H +3 more)
Single nucleotide variant
(missense variant)
Early infantile epileptic encephalopathy with suppression bursts
GUncertain significance
CACNA2D2, CYB561D2
+1 more
(G1037V +3 more)
Single nucleotide variant
(missense variant)
Early infantile epileptic encephalopathy with suppression bursts
GUncertain significance
CACNA2D2, CYB561D2
+1 more
(C1103S +3 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CYB561D2, LOC127898564
+1 more
Single nucleotide variant
(synonymous variant)
Early infantile epileptic encephalopathy with suppression bursts
GLikely benign
CACNA2D2, CYB561D2
+1 more
Single nucleotide variant
(synonymous variant)
Early infantile epileptic encephalopathy with suppression bursts
GLikely benign
CACNA2D2, CYB561D2
+1 more
(T1033I +3 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
CACNA2D2, CYB561D2
+1 more
Single nucleotide variant
(intron variant)
Early infantile epileptic encephalopathy with suppression bursts
GLikely benign
CACNA2D2, CYB561D2
+1 more
Single nucleotide variant
(intron variant)
Early infantile epileptic encephalopathy with suppression bursts
GLikely benign
CACNA2D2, CYB561D2
+1 more
Duplication
(intron variant)
Early infantile epileptic encephalopathy with suppression bursts
GLikely benign
LOC127898564, CACNA2D2
+1 more
Single nucleotide variant
(intron variant)
Early infantile epileptic encephalopathy with suppression bursts
GLikely benign
CACNA2D2, CYB561D2
+1 more
Single nucleotide variant
(intron variant)
Early infantile epileptic encephalopathy with suppression bursts
GLikely benign
CACNA2D2, CYB561D2
+1 more
Single nucleotide variant
(intron variant)
Early infantile epileptic encephalopathy with suppression bursts
GLikely benign
CACNA2D2, CYB561D2
+1 more
Single nucleotide variant
(intron variant)
Early infantile epileptic encephalopathy with suppression bursts
GLikely benign
CACNA2D2, CYB561D2
+1 more
Single nucleotide variant
(intron variant)
Early infantile epileptic encephalopathy with suppression bursts
GLikely benign
CACNA2D2, CYB561D2
+1 more
Single nucleotide variant
(intron variant)
Early infantile epileptic encephalopathy with suppression bursts
GLikely benign
CACNA2D2, CYB561D2
+1 more
Single nucleotide variant
(intron variant)
Early infantile epileptic encephalopathy with suppression bursts
GLikely benign
CACNA2D2, CYB561D2
+1 more
Single nucleotide variant
(intron variant)
Early infantile epileptic encephalopathy with suppression bursts
GLikely benign
CACNA2D2, CYB561D2
+1 more
Single nucleotide variant
(intron variant)
Early infantile epileptic encephalopathy with suppression bursts
GLikely benign
CACNA2D2, CYB561D2
+1 more
Single nucleotide variant
(intron variant)
Early infantile epileptic encephalopathy with suppression bursts
GUncertain significance
CACNA2D2, CYB561D2
+1 more
Single nucleotide variant
(intron variant)
not provided
+1 more
GBenign
CACNA2D2, CYB561D2
+1 more
(A1098V +3 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
CACNA2D2, CYB561D2
+1 more
(A1098P +3 more)
Single nucleotide variant
(missense variant)
Early infantile epileptic encephalopathy with suppression bursts
GUncertain significance
CACNA2D2, CYB561D2
+1 more
(A1096T +3 more)
Single nucleotide variant
(missense variant)
Early infantile epileptic encephalopathy with suppression bursts
+1 more
GUncertain significance
CACNA2D2, CYB561D2
+1 more
Single nucleotide variant
(synonymous variant)
Early infantile epileptic encephalopathy with suppression bursts
GLikely benign
CACNA2D2, CYB561D2
+1 more
Single nucleotide variant
(synonymous variant)
Early infantile epileptic encephalopathy with suppression bursts
GLikely benign
CACNA2D2, CYB561D2
+1 more
(H1089Q +3 more)
Single nucleotide variant
(missense variant)
Early infantile epileptic encephalopathy with suppression bursts
GUncertain significance
CACNA2D2, CYB561D2
+1 more
(P1021L +3 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CACNA2D2, CYB561D2
+1 more
Single nucleotide variant
(synonymous variant)
Early infantile epileptic encephalopathy with suppression bursts
GLikely benign
CACNA2D2, CYB561D2
+1 more
Single nucleotide variant
(synonymous variant)
Early infantile epileptic encephalopathy with suppression bursts
+1 more
GLikely benign
CACNA2D2, CYB561D2
+1 more
(R1016* +4 more)
Single nucleotide variant
(nonsense)
Early infantile epileptic encephalopathy with suppression bursts
GUncertain significance
CACNA2D2, CYB561D2
+1 more
(P1015T +4 more)
Single nucleotide variant
(missense variant)
Early infantile epileptic encephalopathy with suppression bursts
GUncertain significance
CACNA2D2, CYB561D2
+1 more
(R1014T +3 more)
Single nucleotide variant
(missense variant)
Early infantile epileptic encephalopathy with suppression bursts
GUncertain significance
CACNA2D2, CYB561D2
+1 more
(V1012M +3 more)
Single nucleotide variant
(missense variant)
Early infantile epileptic encephalopathy with suppression bursts
GUncertain significance
LOC127898564, CACNA2D2
+1 more
Single nucleotide variant
(synonymous variant)
Early infantile epileptic encephalopathy with suppression bursts
GLikely benign
CACNA2D2, CYB561D2
+1 more
(Q1077* +3 more)
Single nucleotide variant
(nonsense)
Early infantile epileptic encephalopathy with suppression bursts
GPathogenic
CACNA2D2, CYB561D2
+1 more
(E1007K +3 more)
Single nucleotide variant
(missense variant)
Early infantile epileptic encephalopathy with suppression bursts
+1 more
GUncertain significance
CACNA2D2, CYB561D2
+1 more
Single nucleotide variant
(synonymous variant)
Early infantile epileptic encephalopathy with suppression bursts
GLikely benign
LOC127898564, CYB561D2
+1 more
(P1006Q +3 more)
Single nucleotide variant
(missense variant)
Early infantile epileptic encephalopathy with suppression bursts
GUncertain significance
CACNA2D2, CYB561D2
+1 more
(P1073L +3 more)
Single nucleotide variant
(missense variant)
Early infantile epileptic encephalopathy with suppression bursts
GUncertain significance
CACNA2D2, CYB561D2
+1 more
Single nucleotide variant
(synonymous variant)
Early infantile epileptic encephalopathy with suppression bursts
GLikely benign
CACNA2D2, CYB561D2
+1 more
(D1073G +3 more)
Single nucleotide variant
(missense variant)
Early infantile epileptic encephalopathy with suppression bursts
GUncertain significance
CACNA2D2, CYB561D2
+1 more
Single nucleotide variant
(synonymous variant)
Early infantile epileptic encephalopathy with suppression bursts
GLikely benign
CACNA2D2, CYB561D2
+1 more
(P1071S +1 more)
Single nucleotide variant
(missense variant +1 more)
Early infantile epileptic encephalopathy with suppression bursts
GLikely benign
CACNA2D2, CYB561D2
+1 more
(C1070Y +1 more)
Single nucleotide variant
(missense variant +1 more)
Early infantile epileptic encephalopathy with suppression bursts
GLikely benign
CACNA2D2, CYB561D2
+1 more
Single nucleotide variant
(splice acceptor variant +1 more)
Early infantile epileptic encephalopathy with suppression bursts
GLikely benign
CACNA2D2, CYB561D2
+1 more
Single nucleotide variant
(intron variant)
Early infantile epileptic encephalopathy with suppression bursts
GLikely benign
CACNA2D2, CYB561D2
+1 more
Single nucleotide variant
(intron variant)
Early infantile epileptic encephalopathy with suppression bursts
GLikely benign
CACNA2D2, CYB561D2
+1 more
Single nucleotide variant
(intron variant)
Early infantile epileptic encephalopathy with suppression bursts
GLikely benign
CACNA2D2, CYB561D2
+1 more
Single nucleotide variant
(intron variant)
Early infantile epileptic encephalopathy with suppression bursts
GLikely benign
CACNA2D2, CYB561D2
+1 more
Single nucleotide variant
(intron variant)
Early infantile epileptic encephalopathy with suppression bursts
GLikely benign
CACNA2D2, CYB561D2
+1 more
Single nucleotide variant
(intron variant)
Early infantile epileptic encephalopathy with suppression bursts
GLikely benign
CACNA2D2, CYB561D2
+1 more
Single nucleotide variant
(intron variant)
Early infantile epileptic encephalopathy with suppression bursts
GLikely benign
CACNA2D2, CYB561D2
+1 more
Insertion
(intron variant)
Early infantile epileptic encephalopathy with suppression bursts
GLikely benign
CACNA2D2, CYB561D2
+1 more
Single nucleotide variant
(intron variant)
Early infantile epileptic encephalopathy with suppression bursts
GLikely benign
CACNA2D2, CYB561D2
+1 more
Single nucleotide variant
(intron variant)
Early infantile epileptic encephalopathy with suppression bursts
GLikely benign
CACNA2D2, CYB561D2
+1 more
Single nucleotide variant
(intron variant)
Early infantile epileptic encephalopathy with suppression bursts
GLikely benign
CACNA2D2, CYB561D2
+1 more
(H1000Y +3 more)
Single nucleotide variant
(missense variant)
Early infantile epileptic encephalopathy with suppression bursts
GUncertain significance
CACNA2D2, CYB561D2
+1 more
Single nucleotide variant
(synonymous variant)
Early infantile epileptic encephalopathy with suppression bursts
GLikely benign
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