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Items: 6

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CSTB
Single nucleotide variant
(3 prime UTR variant)
not specified
GBenign/Likely benign
CSTB
(N84fs)
Deletion
(frameshift variant)
Progressive myoclonic epilepsy
+1 more
GUncertain significance
CSTB
(V41M)
Single nucleotide variant
(missense variant)
CSTB-related condition
+5 more
GConflicting classifications of pathogenicity
CSTB
Single nucleotide variant
(splice acceptor variant)
Encephalopathy
+6 more
GConflicting classifications of pathogenicity
CSTB, LOC130066788
(Q10P)
Single nucleotide variant
(missense variant)
Progressive myoclonic epilepsy
+1 more
GUncertain significance
CSTB, LOC130066788
Single nucleotide variant
(synonymous variant)
Inborn genetic diseases
+3 more
GBenign/Likely benign
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