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Items: 65

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CNTN2
(S21F)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CNTN2
(T53M)
Single nucleotide variant
(missense variant +1 more)
not specified
+1 more
GUncertain significance
CNTN2
(V57M)
Single nucleotide variant
(missense variant +1 more)
Epilepsy, familial adult myoclonic, 5
+1 more
GUncertain significance
CNTN2
(R62H)
Single nucleotide variant
(missense variant +1 more)
Epilepsy, familial adult myoclonic, 5
+1 more
GUncertain significance
CNTN2
(R72W)
Single nucleotide variant
(missense variant +1 more)
Epilepsy, familial adult myoclonic, 5
+1 more
GConflicting classifications of pathogenicity
CNTN2
(R87H)
Single nucleotide variant
(missense variant +1 more)
not specified
+1 more
GUncertain significance
CNTN2
(K102T)
Single nucleotide variant
(missense variant +1 more)
Epilepsy, familial adult myoclonic, 5
+1 more
GUncertain significance
CNTN2
(G130S)
Single nucleotide variant
(missense variant +1 more)
Epilepsy, familial adult myoclonic, 5
+1 more
GUncertain significance
CNTN2
(T179M)
Single nucleotide variant
(missense variant +1 more)
Epilepsy, familial adult myoclonic, 5
+1 more
GUncertain significance
CNTN2
(A225T)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CNTN2
(A230V)
Single nucleotide variant
(missense variant +1 more)
not specified
+1 more
GUncertain significance
CNTN2
(R235W)
Single nucleotide variant
(missense variant +1 more)
Epilepsy, familial adult myoclonic, 5
+1 more
GConflicting classifications of pathogenicity
CNTN2
(R235Q)
Single nucleotide variant
(missense variant +1 more)
Epilepsy, familial adult myoclonic, 5
+1 more
GConflicting classifications of pathogenicity
CNTN2
(I241M)
Single nucleotide variant
(missense variant +1 more)
Epilepsy, familial adult myoclonic, 5
+1 more
GUncertain significance
CNTN2
(R244Q)
Single nucleotide variant
(missense variant +1 more)
Epilepsy, familial adult myoclonic, 5
+1 more
GUncertain significance
CNTN2
(V253M)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CNTN2
(A263T)
Single nucleotide variant
(missense variant +1 more)
not specified
+1 more
GUncertain significance
CNTN2
(R274H)
Single nucleotide variant
(missense variant +1 more)
not specified
+1 more
GUncertain significance
CNTN2
(G278S)
Single nucleotide variant
(missense variant +1 more)
Epilepsy, familial adult myoclonic, 5
+1 more
GUncertain significance
CNTN2
(S279P)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CNTN2
(Q283H)
Single nucleotide variant
(missense variant +1 more)
not specified
+1 more
GUncertain significance
CNTN2
(V296I)
Single nucleotide variant
(missense variant +1 more)
not specified
+1 more
GUncertain significance
CNTN2
(E305Q)
Single nucleotide variant
(missense variant +1 more)
Epilepsy, familial adult myoclonic, 5
+1 more
GUncertain significance
CNTN2
(V317M)
Single nucleotide variant
(missense variant +1 more)
not specified
+1 more
GUncertain significance
CNTN2
(R320C)
Single nucleotide variant
(missense variant +1 more)
not specified
+1 more
GUncertain significance
CNTN2
(S334L)
Single nucleotide variant
(missense variant +1 more)
not specified
+1 more
GConflicting classifications of pathogenicity
CNTN2
(R345C)
Single nucleotide variant
(missense variant +1 more)
Epilepsy, familial adult myoclonic, 5
+1 more
GUncertain significance
CNTN2
(R345H)
Single nucleotide variant
(missense variant +1 more)
not specified
+1 more
GUncertain significance
CNTN2
(R432C)
Single nucleotide variant
(missense variant +1 more)
Epilepsy, familial adult myoclonic, 5
+1 more
GUncertain significance
CNTN2
(G433R)
Single nucleotide variant
(missense variant +1 more)
Epilepsy, familial adult myoclonic, 5
+1 more
GUncertain significance
CNTN2
(G434R)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CNTN2
(R443W)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CNTN2
(V449M)
Single nucleotide variant
(missense variant +1 more)
not specified
+1 more
GUncertain significance
CNTN2
(T456M)
Single nucleotide variant
(missense variant +1 more)
not specified
+1 more
GUncertain significance
CNTN2
(I474V)
Single nucleotide variant
(missense variant +1 more)
not specified
+1 more
GUncertain significance
CNTN2
(G495S)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CNTN2
(D552G)
Single nucleotide variant
(missense variant +1 more)
not specified
+1 more
GUncertain significance
CNTN2
(A596T)
Single nucleotide variant
(missense variant +1 more)
Epilepsy, familial adult myoclonic, 5
+1 more
GConflicting classifications of pathogenicity
CNTN2
(T601I)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CNTN2
(D621N)
Single nucleotide variant
(missense variant +1 more)
not specified
+1 more
GUncertain significance
CNTN2
(R657Q)
Single nucleotide variant
(missense variant +1 more)
not specified
+1 more
GUncertain significance
CNTN2
(N662K)
Single nucleotide variant
(missense variant +1 more)
not specified
+1 more
GUncertain significance
CNTN2
(E668K)
Single nucleotide variant
(missense variant +1 more)
not specified
+1 more
GUncertain significance
CNTN2
(W678G)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CNTN2
(M679I)
Single nucleotide variant
(missense variant +1 more)
not specified
+1 more
GConflicting classifications of pathogenicity
CNTN2
(K702E)
Single nucleotide variant
(missense variant +1 more)
not specified
+1 more
GUncertain significance
CNTN2
(R706K)
Single nucleotide variant
(missense variant +1 more)
not specified
GLikely benign
CNTN2
(M734T)
Single nucleotide variant
(missense variant)
Epilepsy, familial adult myoclonic, 5
+1 more
GUncertain significance
CNTN2
(R736Q)
Single nucleotide variant
(missense variant)
not specified
+1 more
GUncertain significance
CNTN2
(W758C)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CNTN2
(R794C)
Single nucleotide variant
(missense variant +1 more)
Epilepsy, familial adult myoclonic, 5
+1 more
GUncertain significance
CNTN2
(K822Q)
Single nucleotide variant
(missense variant +1 more)
not specified
+1 more
GUncertain significance
CNTN2
(V836M)
Single nucleotide variant
(missense variant +1 more)
not specified
+1 more
GUncertain significance
CNTN2
(G855E)
Single nucleotide variant
(missense variant +1 more)
not specified
+1 more
GUncertain significance
CNTN2
(G877S)
Single nucleotide variant
(missense variant +1 more)
not specified
+1 more
GUncertain significance
CNTN2
(R893W)
Single nucleotide variant
(missense variant +1 more)
not specified
+1 more
GUncertain significance
CNTN2
(R893Q)
Single nucleotide variant
(missense variant +1 more)
Epilepsy, familial adult myoclonic, 5
+1 more
GUncertain significance
CNTN2
(T896S)
Single nucleotide variant
(missense variant +1 more)
not specified
+1 more
GUncertain significance
CNTN2, LOC126805985
(R913W)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CNTN2, LOC126805985
(R914Q)
Single nucleotide variant
(missense variant +1 more)
Epilepsy, familial adult myoclonic, 5
+1 more
GUncertain significance
CNTN2, LOC126805985
(G965S)
Single nucleotide variant
(missense variant +1 more)
not specified
+1 more
GConflicting classifications of pathogenicity
CNTN2, LOC126805985
(D976N)
Single nucleotide variant
(missense variant +1 more)
not specified
+1 more
GUncertain significance
CNTN2, LOC126805985
(V1001M)
Single nucleotide variant
(missense variant +1 more)
not specified
+1 more
GConflicting classifications of pathogenicity
CNTN2
(M1013T)
Single nucleotide variant
(missense variant +1 more)
Epilepsy, familial adult myoclonic, 5
+1 more
GUncertain significance
CNTN2
(R1016H)
Single nucleotide variant
(missense variant +1 more)
Epilepsy, familial adult myoclonic, 5
+1 more
GUncertain significance
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