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Items: 29

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CASK
Single nucleotide variant
(intron variant)
Intellectual disability, CASK-related, X-linked
+2 more
GConflicting classifications of pathogenicity
CASK
(H768Y +4 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
CASK
(R761Q +4 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+3 more
GConflicting classifications of pathogenicity
CASK
Single nucleotide variant
(synonymous variant)
Inborn genetic diseases
+3 more
GBenign
CASK
(R641K +3 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+2 more
GConflicting classifications of pathogenicity
CASK
Single nucleotide variant
(synonymous variant +1 more)
CASK-related condition
+4 more
GBenign/Likely benign
CASK
(T573I +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
CASK
Single nucleotide variant
(intron variant)
not provided
+2 more
GConflicting classifications of pathogenicity
CASK
Single nucleotide variant
(intron variant)
not specified
+3 more
GBenign/Likely benign
CASK
Duplication
(intron variant)
not specified
+1 more
GBenign
CASK
Single nucleotide variant
(intron variant)
Inborn genetic diseases
+2 more
GConflicting classifications of pathogenicity
CASK
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GConflicting classifications of pathogenicity
CASK
(T464A +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+2 more
GConflicting classifications of pathogenicity
CASK
Single nucleotide variant
(intron variant)
not specified
+2 more
GConflicting classifications of pathogenicity
CASK
Single nucleotide variant
(synonymous variant)
Intellectual disability, CASK-related, X-linked
+1 more
GConflicting classifications of pathogenicity
CASK
Single nucleotide variant
(synonymous variant)
Intellectual disability, CASK-related, X-linked
+1 more
GConflicting classifications of pathogenicity
CASK
(P396S +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+3 more
GConflicting classifications of pathogenicity
CASK
(K366N +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CASK
Single nucleotide variant
(synonymous variant)
CASK-related condition
+4 more
GConflicting classifications of pathogenicity
CASK
Single nucleotide variant
(intron variant)
not specified
+1 more
GBenign
CASK
Single nucleotide variant
(synonymous variant)
Inborn genetic diseases
+4 more
GConflicting classifications of pathogenicity
CASK
(R240S)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CASK
Single nucleotide variant
(synonymous variant)
Inborn genetic diseases
+3 more
GBenign
CASK
Single nucleotide variant
(intron variant)
not provided
+1 more
GConflicting classifications of pathogenicity
CASK
(E115V)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
CASK
Single nucleotide variant
(synonymous variant)
not provided
GConflicting classifications of pathogenicity
CASK
(R27*)
Single nucleotide variant
(nonsense)
not provided
+1 more
GPathogenic
CASK
(G19R)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
CASK
Single nucleotide variant
(synonymous variant)
Intellectual disability, CASK-related, X-linked
+1 more
GConflicting classifications of pathogenicity
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