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Items: 13

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CASD1, SGCE
(W382R +9 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CASD1, SGCE
(R378S +9 more)
Single nucleotide variant
(missense variant)
Myoclonic dystonia 11
+1 more
GUncertain significance
CASD1, SGCE
Single nucleotide variant
(synonymous variant)
not specified
+1 more
GBenign
CASD1, SGCE
Deletion
(frameshift variant)
not provided
+1 more
GPathogenic
CASD1, SGCE
(T257P +4 more)
Single nucleotide variant
(missense variant)
not specified
+2 more
GBenign/Likely benign
CASD1, SGCE
(R237* +4 more)
Single nucleotide variant
(nonsense)
not provided
+1 more
GPathogenic
CASD1, SGCE
(D206G +4 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
CASD1, SGCE
Single nucleotide variant
(synonymous variant)
not specified
+2 more
GConflicting classifications of pathogenicity
CASD1, SGCE
(L146M +4 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GConflicting classifications of pathogenicity
CASD1, SGCE
(I131V +4 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+3 more
GConflicting classifications of pathogenicity
CASD1, SGCE
Single nucleotide variant
(intron variant)
not provided
+2 more
GBenign/Likely benign
CASD1, SGCE
(P126L +4 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CASD1, SGCE
(R102* +4 more)
Single nucleotide variant
(nonsense)
not provided
+1 more
GPathogenic
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