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Items: 86

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC130067459, LOC130067460
+273 more
Copy number gain
See cases
GPathogenic
CACNA1I
(M130R)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CACNA1I
(I157N)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CACNA1I
(Y165C)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CACNA1I
(P193S)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CACNA1I
Single nucleotide variant
(intron variant)
not provided
GUncertain significance
CACNA1I
(I222F)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CACNA1I
(F240L)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CACNA1I
(H281L)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CACNA1I
(E282G)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CACNA1I
(R321L)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CACNA1I
(Y323F)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CACNA1I
(H334fs)
Deletion
(frameshift variant)
not provided
GUncertain significance
CACNA1I
(M363K)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CACNA1I
(N391D)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CACNA1I
(I445V)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CACNA1I
(E470*)
Single nucleotide variant
(nonsense)
not provided
GUncertain significance
CACNA1I
(V504A +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CACNA1I
(T510R +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CACNA1I
(E540V +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CACNA1I
(S567F +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CACNA1I
(Y669H +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CACNA1I
(S680G +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CACNA1I
Single nucleotide variant
(synonymous variant)
not provided
GBenign
CACNA1I
(R696W +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CACNA1I
(V763G +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CACNA1I
(V790fs +1 more)
Duplication
(frameshift variant)
not provided
GUncertain significance
CACNA1I
(A809D +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CACNA1I
(F819Y +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CACNA1I
(G877W +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CACNA1I
(R930C +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CACNA1I
Deletion
(splice donor variant)
not provided
GUncertain significance
CACNA1I
(G944A +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CACNA1I
(P963L +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CACNA1I
(L1032R +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CACNA1I
Deletion
not provided
GUncertain significance
CACNA1I
(R1020W +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CACNA1I
(H1042R +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CACNA1I
(C1059G +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CACNA1I
(P1064T +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CACNA1I
(E1082fs +1 more)
Duplication
(frameshift variant)
not provided
GUncertain significance
CACNA1I
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
CACNA1I
Single nucleotide variant
(synonymous variant)
not provided
GUncertain significance
CACNA1I
(H1134Q +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CACNA1I
(I1217V +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CACNA1I
(F1282del +1 more)
Microsatellite
(inframe_deletion)
not provided
GUncertain significance
CACNA1I
(I1350M +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CACNA1I
(M1390T +1 more)
Single nucleotide variant
(missense variant)
not specified
+1 more
GUncertain significance
CACNA1I
(V1392M +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
CACNA1I
(M1490R +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CACNA1I
(K1502M +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CACNA1I
(A1541T +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CACNA1I
(Y1598F +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CACNA1I
(N1615K +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CACNA1I
(P1672S +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CACNA1I
(V1691M +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CACNA1I
(A1720D +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CACNA1I
Single nucleotide variant
(splice acceptor variant)
not provided
GUncertain significance
CACNA1I
(C1806Y +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CACNA1I
(C1806W +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CACNA1I
(Q1811* +1 more)
Single nucleotide variant
(nonsense)
not provided
GUncertain significance
CACNA1I
(E1840G +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CACNA1I
(N1885D +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CACNA1I
(F1895I +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CACNA1I
(P1897L +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CACNA1I
(P1911S +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CACNA1I
(Q1938R +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CACNA1I
(G1940H +1 more)
Indel
(missense variant)
not provided
GUncertain significance
CACNA1I
(S1992T +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CACNA1I
(R2029H +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CACNA1I
(G2036S +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CACNA1I
(H2052R +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CACNA1I
Duplication
not provided
GUncertain significance
CACNA1I
(S2089A +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CACNA1I
(P2160S +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CACNA1I
(S2184N +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
A4GALT, ACO2
+223 more
Copy number gain
See cases
GPathogenic
A4GALT, ACO2
+438 more
Copy number gain
See cases
GPathogenic
CACNA1I
(Q2171E +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CACNA1I
(I748S +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CACNA1I
(F1669Y +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CACNA1I
(K1187E +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CACNA1I
(R191H)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CACNA1I
(I1132V +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CACNA1I
(M1184V +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CACNA1I
(I114T)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
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