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Items: 32

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CACNA1C, CACNA1C-AS1
Single nucleotide variant
(non-coding transcript variant +1 more)
not specified
+2 more
GBenign
CACNA1C, CACNA1C-AS1
(A1648T +10 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
Cardiovascular phenotype
+4 more
GConflicting classifications of pathogenicity
CACNA1C, CACNA1C-AS1
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
+1 more
GConflicting classifications of pathogenicity
CACNA1C, CACNA1C-AS1
Single nucleotide variant
(synonymous variant)
Brugada syndrome 3
+7 more
GBenign
CACNA1C-AS1, CACNA1C
Single nucleotide variant
(synonymous variant)
not provided
+2 more
GConflicting classifications of pathogenicity
CACNA1C, CACNA1C-AS1
Single nucleotide variant
(synonymous variant)
History of neurodevelopmental disorder
+4 more
GBenign/Likely benign
CACNA1C, CACNA1C-AS1
(G1762S +10 more)
Single nucleotide variant
(missense variant)
Long QT syndrome
+1 more
GConflicting classifications of pathogenicity
CACNA1C, CACNA1C-AS1
(A1717G +10 more)
Single nucleotide variant
(missense variant)
Neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures
+8 more
GConflicting classifications of pathogenicity
CACNA1C, CACNA1C-AS1
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GConflicting classifications of pathogenicity
CACNA1C, CACNA1C-AS1
Single nucleotide variant
(synonymous variant)
History of neurodevelopmental disorder
+4 more
GConflicting classifications of pathogenicity
CACNA1C, CACNA1C-AS1
Single nucleotide variant
(synonymous variant)
History of neurodevelopmental disorder
+4 more
GBenign
CACNA1C, CACNA1C-AS1
Single nucleotide variant
(synonymous variant)
Cardiovascular phenotype
+3 more
GConflicting classifications of pathogenicity
CACNA1C, CACNA1C-AS1
Single nucleotide variant
(synonymous variant)
History of neurodevelopmental disorder
+4 more
GBenign
CACNA1C, CACNA1C-AS1
Single nucleotide variant
(synonymous variant)
Cardiovascular phenotype
+3 more
GConflicting classifications of pathogenicity
CACNA1C, CACNA1C-AS1
(S1812N +10 more)
Single nucleotide variant
(missense variant)
Timothy syndrome
+2 more
GUncertain significance
CACNA1C, CACNA1C-AS1
Single nucleotide variant
(synonymous variant)
History of neurodevelopmental disorder
+5 more
GBenign/Likely benign
CACNA1C-AS1, CACNA1C
Single nucleotide variant
(synonymous variant)
Cardiovascular phenotype
+3 more
GConflicting classifications of pathogenicity
CACNA1C, CACNA1C-AS1
Single nucleotide variant
(synonymous variant)
Cardiovascular phenotype
+4 more
GBenign
CACNA1C, CACNA1C-AS1
(S1882P +13 more)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+2 more
GConflicting classifications of pathogenicity
CACNA1C, CACNA1C-AS1
Single nucleotide variant
(synonymous variant)
History of neurodevelopmental disorder
+4 more
GBenign/Likely benign
CACNA1C, CACNA1C-AS1
(R1889C +13 more)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+6 more
GBenign/Likely benign
CACNA1C, CACNA1C-AS1
Single nucleotide variant
(intron variant)
not specified
+2 more
GBenign
CACNA1C, CACNA1C-AS1
Single nucleotide variant
(intron variant)
not specified
+2 more
GBenign
CACNA1C, CACNA1C-AS1
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GConflicting classifications of pathogenicity
CACNA1C, CACNA1C-AS1
(G1911R +13 more)
Single nucleotide variant
(missense variant)
Brugada syndrome 3
+7 more
GConflicting classifications of pathogenicity
CACNA1C, CACNA1C-AS1
Single nucleotide variant
(synonymous variant)
Cardiovascular phenotype
+2 more
GConflicting classifications of pathogenicity
CACNA1C, CACNA1C-AS1
(R1973Q +13 more)
Single nucleotide variant
(missense variant)
History of neurodevelopmental disorder
+5 more
GBenign/Likely benign
CACNA1C, CACNA1C-AS1
(V2014I +13 more)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+5 more
GConflicting classifications of pathogenicity
CACNA1C, CACNA1C-AS1
Single nucleotide variant
(synonymous variant)
Long QT syndrome
+2 more
GConflicting classifications of pathogenicity
CACNA1C, CACNA1C-AS1
(A2039G +13 more)
Single nucleotide variant
(missense variant)
Long qt syndrome 8
+4 more
GConflicting classifications of pathogenicity
CACNA1C, CACNA1C-AS1
(K2054R +13 more)
Single nucleotide variant
(missense variant +1 more)
Cardiovascular phenotype
+6 more
GConflicting classifications of pathogenicity
CACNA1C, CACNA1C-AS1
(D2113A +13 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
Cardiovascular phenotype
+2 more
GUncertain significance
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