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Items: 20

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CACNA1C
(M1T)
Single nucleotide variant
(missense variant +1 more)
not provided
+5 more
GConflicting classifications of pathogenicity
CACNA1C
Single nucleotide variant
(splice donor variant)
not provided
GUncertain significance
CACNA1C
(I179T)
Single nucleotide variant
(missense variant)
not provided
+3 more
GUncertain significance
CACNA1C
(A180T)
Single nucleotide variant
(missense variant)
Long QT syndrome
+2 more
GUncertain significance
CACNA1C
(L289I)
Single nucleotide variant
(missense variant)
not provided
+3 more
GConflicting classifications of pathogenicity
CACNA1C
(R587C +1 more)
Single nucleotide variant
(missense variant)
Long QT syndrome
+2 more
GUncertain significance
CACNA1C
(G672E +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CACNA1C
(G1079R +2 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
CACNA1C
(R1220Q +2 more)
Single nucleotide variant
(missense variant)
Long QT syndrome
+1 more
GUncertain significance
CACNA1C
(Y1207H +2 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CACNA1C
(L1228F +2 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CACNA1C
(A1250T +2 more)
Single nucleotide variant
(missense variant)
Long QT syndrome
+1 more
GUncertain significance
CACNA1C
(M1248T +2 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CACNA1C
(I1298M +3 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
CACNA1C
(V1355L +8 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
CACNA1C, CACNA1C-AS2
(D1540N +8 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
GUncertain significance
CACNA1C
(S1586T +10 more)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+1 more
GUncertain significance
CACNA1C
Single nucleotide variant
(splice donor variant)
Long QT syndrome
+5 more
GUncertain significance
CACNA1C, CACNA1C-AS1
(L2030fs +13 more)
Duplication
(non-coding transcript variant +1 more)
not provided
GUncertain significance
CACNA1C, CACNA1C-AS1
(E2100fs +13 more)
Duplication
(non-coding transcript variant +1 more)
Long QT syndrome
+6 more
GUncertain significance
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