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Items: 11

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CACNA1D
Single nucleotide variant
(synonymous variant)
not specified
+1 more
GBenign/Likely benign
CACNA1D
(C494R)
Single nucleotide variant
(missense variant +1 more)
Sinoatrial node dysfunction and deafness
+2 more
GUncertain significance
CACNA1D
Single nucleotide variant
(synonymous variant)
Sinoatrial node dysfunction and deafness
+2 more
GConflicting classifications of pathogenicity
CACNA1D
(V843M +1 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GConflicting classifications of pathogenicity
CACNA1D
Single nucleotide variant
(synonymous variant)
not specified
+1 more
GConflicting classifications of pathogenicity
CACNA1D
Single nucleotide variant
(intron variant)
not provided
+1 more
GConflicting classifications of pathogenicity
CACNA1D
(L1586V +2 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CACNA1D
Single nucleotide variant
(synonymous variant)
CACNA1D-related condition
+1 more
GConflicting classifications of pathogenicity
CACNA1D
(R1923Q +2 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CACNA1D
(R2132C +2 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GConflicting classifications of pathogenicity
CACNA1D
Single nucleotide variant
(synonymous variant)
not specified
+1 more
GConflicting classifications of pathogenicity
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