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Items: 26

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CACNA2D4
Single nucleotide variant
(synonymous variant)
not provided
+2 more
GBenign
CACNA2D4
Single nucleotide variant
(intron variant)
not provided
+2 more
GBenign/Likely benign
CACNA2D4
(P1022L)
Single nucleotide variant
(missense variant)
not provided
+2 more
GBenign/Likely benign
CACNA2D4
(F996S)
Single nucleotide variant
(missense variant)
not specified
+2 more
GBenign/Likely benign
CACNA2D4
Single nucleotide variant
(intron variant)
not specified
+2 more
GBenign/Likely benign
CACNA2D4
Single nucleotide variant
(synonymous variant)
CACNA2D4-related condition
+3 more
GBenign/Likely benign
CACNA2D4
(M747V)
Single nucleotide variant
(missense variant)
not specified
+2 more
GLikely benign
CACNA2D4
(A730V)
Single nucleotide variant
(missense variant)
not specified
+2 more
GBenign
CACNA2D4
Single nucleotide variant
(synonymous variant)
not specified
+2 more
GBenign
CACNA2D4
(L699F)
Single nucleotide variant
(missense variant)
Retinal cone dystrophy 4
+3 more
GLikely benign
CACNA2D4
(K698N)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CACNA2D4
Single nucleotide variant
(intron variant)
not provided
+1 more
GConflicting classifications of pathogenicity
CACNA2D4
Single nucleotide variant
(synonymous variant)
CACNA2D4-related condition
+2 more
GConflicting classifications of pathogenicity
CACNA2D4
Single nucleotide variant
(synonymous variant)
not specified
+2 more
GBenign/Likely benign
CACNA2D4
Single nucleotide variant
(synonymous variant)
Retinal cone dystrophy 4
+1 more
GConflicting classifications of pathogenicity
CACNA2D4
(G649R)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CACNA2D4
Deletion
(intron variant)
not provided
GConflicting classifications of pathogenicity
CACNA2D4
Single nucleotide variant
(synonymous variant)
not specified
+2 more
GBenign
CACNA2D4
Single nucleotide variant
(synonymous variant)
not provided
+2 more
GBenign
CACNA2D4
Single nucleotide variant
(synonymous variant)
Retinal cone dystrophy 4
+1 more
GConflicting classifications of pathogenicity
CACNA2D4
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GBenign/Likely benign
CACNA2D4
(T265S)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CACNA2D4
Single nucleotide variant
(intron variant)
not provided
GUncertain significance
CACNA2D4
(V207M)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
CACNA2D4
(W55*)
Single nucleotide variant
(nonsense)
not provided
GLikely pathogenic
CACNA2D4
(A26T)
Single nucleotide variant
(missense variant)
not specified
+1 more
GBenign
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