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Items: 13

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CACNA1C
(G37R)
Single nucleotide variant
(missense variant)
Brugada syndrome 3
+7 more
GBenign/Likely benign
CACNA1C
Single nucleotide variant
(intron variant)
Long qt syndrome 8
+5 more
GBenign
CACNA1C
(P817S +1 more)
Single nucleotide variant
(missense variant)
Long QT syndrome
+6 more
GBenign/Likely benign
CACNA1C
Single nucleotide variant
(intron variant)
CACNA1C-related disorder
+3 more
GConflicting classifications of pathogenicity
CACNA1C
(R858H +1 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GPathogenic/Likely pathogenic
CACNA1C
(R860Q +1 more)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+3 more
GConflicting classifications of pathogenicity
CACNA1C
(H1014R +2 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CACNA1C
Single nucleotide variant
(synonymous variant)
not specified
+7 more
GBenign/Likely benign
CACNA1C
(M1235V +2 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CACNA1C, CACNA1C-AS1
(A1675T +10 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
Long QT syndrome
+2 more
GConflicting classifications of pathogenicity
CACNA1C, CACNA1C-AS1
Single nucleotide variant
(intron variant)
Long QT syndrome
+2 more
GBenign
CACNA1C, CACNA1C-AS1
(R1973Q +13 more)
Single nucleotide variant
(missense variant)
Long QT syndrome
+4 more
GBenign/Likely benign
CACNA1C, CACNA1C-AS1
(R2090K +13 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
GUncertain significance
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