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Links from MedGen

Items: 43

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CSTB
(V57L)
Single nucleotide variant
(missense variant)
Unverricht-Lundborg syndrome
+1 more
GUncertain significance
CSTB
Single nucleotide variant
(3 prime UTR variant)
Unverricht-Lundborg syndrome
GLikely benign
CSTB
Single nucleotide variant
(3 prime UTR variant)
Unverricht-Lundborg syndrome
GUncertain significance
CSTB
Single nucleotide variant
Unverricht-Lundborg syndrome
GUncertain significance
CSTB
Single nucleotide variant
Unverricht-Lundborg syndrome
GUncertain significance
CSTB
Single nucleotide variant
Unverricht-Lundborg syndrome
GUncertain significance
CSTB, LOC130066788
Single nucleotide variant
(synonymous variant)
Unverricht-Lundborg syndrome
+1 more
GConflicting classifications of pathogenicity
CSTB, LOC130066788
(Q22*)
Single nucleotide variant
(nonsense)
Unverricht-Lundborg syndrome
+1 more
GPathogenic/Likely pathogenic
CSTB
(Y53C)
Single nucleotide variant
(missense variant)
Progressive myoclonic epilepsy
+2 more
GUncertain significance
CSTB, LOC130066788
Single nucleotide variant
(5 prime UTR variant)
Unverricht-Lundborg syndrome
+1 more
GConflicting classifications of pathogenicity
CSTB, LOC130066788
(G4W)
Single nucleotide variant
(missense variant)
Unverricht-Lundborg syndrome
GLikely pathogenic
CSTB, LOC130066788
Single nucleotide variant
(synonymous variant)
Unverricht-Lundborg syndrome
+2 more
GConflicting classifications of pathogenicity
CSTB, LOC130066788
Single nucleotide variant
Unverricht-Lundborg syndrome
GUncertain significance
CSTB, LOC130066788
Single nucleotide variant
not provided
+1 more
GBenign
CSTB, LOC130066788
Single nucleotide variant
Unverricht-Lundborg syndrome
GUncertain significance
CSTB, LOC130066788
Single nucleotide variant
not specified
+1 more
GConflicting classifications of pathogenicity
CSTB
Single nucleotide variant
(intron variant)
Unverricht-Lundborg syndrome
GUncertain significance
CSTB
Single nucleotide variant
(3 prime UTR variant)
Unverricht-Lundborg syndrome
+1 more
GLikely benign
CSTB
Single nucleotide variant
(3 prime UTR variant)
Unverricht-Lundborg syndrome
+1 more
GBenign
CSTB
Single nucleotide variant
(3 prime UTR variant)
Unverricht-Lundborg syndrome
GUncertain significance
CSTB
Single nucleotide variant
Unverricht-Lundborg syndrome
GUncertain significance
CSTB
Single nucleotide variant
not provided
+1 more
GBenign
CSTB
Single nucleotide variant
not provided
+1 more
GConflicting classifications of pathogenicity
CSTB
Single nucleotide variant
Unverricht-Lundborg syndrome
GUncertain significance
CSTB
(V65I)
Single nucleotide variant
(missense variant)
Progressive myoclonic epilepsy
+2 more
GConflicting classifications of pathogenicity
CSTB
(V41M)
Single nucleotide variant
(missense variant)
Progressive myoclonic epilepsy
+4 more
GConflicting classifications of pathogenicity
CSTB
Indel
(splice donor variant)
Unverricht-Lundborg syndrome
Gnot provided
CSTB
Deletion
(splice donor variant)
Unverricht-Lundborg syndrome
Gnot provided
CSTB
(G50E)
Single nucleotide variant
(missense variant)
Unverricht-Lundborg syndrome
Gnot provided
CSTB
(Q46*)
Single nucleotide variant
(nonsense)
Inborn genetic diseases
+3 more
GPathogenic/Likely pathogenic
CSTB
Single nucleotide variant
(intron variant)
not specified
+3 more
GBenign/Likely benign
CSTB, LOC130066788
Single nucleotide variant
(synonymous variant)
Inborn genetic diseases
+3 more
GBenign/Likely benign
CSTB, LOC130066788
Single nucleotide variant
(synonymous variant)
Unverricht-Lundborg syndrome
GLikely pathogenic
CSTB
(L73fs)
Microsatellite
(frameshift variant)
not provided
+3 more
GPathogenic/Likely pathogenic
CSTB
Single nucleotide variant
(splice acceptor variant)
Unverricht-Lundborg syndrome
GLikely pathogenic
CSTB
Single nucleotide variant
(synonymous variant)
Unverricht-Lundborg syndrome
GLikely pathogenic
CSTB
(S42*)
Single nucleotide variant
(nonsense)
Unverricht-Lundborg syndrome
GLikely pathogenic
LOC130066788, LOC109029533
+1 more
Microsatellite
Unverricht-Lundborg syndrome
GPathogenic
CSTB
(Q71P)
Single nucleotide variant
(missense variant)
Unverricht-Lundborg syndrome
GPathogenic
CSTB, LOC109029533
+1 more
Microsatellite
Unverricht-Lundborg syndrome
GPathogenic
CSTB, LOC130066788
(G4R)
Single nucleotide variant
(missense variant)
Unverricht-Lundborg syndrome
GPathogenic
CSTB
(R68*)
Single nucleotide variant
(nonsense)
Progressive myoclonic epilepsy
+10 more
GPathogenic
CSTB
Single nucleotide variant
(splice acceptor variant)
Microcephaly
+6 more
GConflicting classifications of pathogenicity
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