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Links from MedGen

Items: 27

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
NUS1
(E158*)
Single nucleotide variant
(nonsense)
Intellectual disability, autosomal dominant 55, with seizures
GPathogenic
ARHGAP18, ASF1A
+316 more
Copy number loss
Intellectual disability, autosomal dominant 55, with seizures
GPathogenic
NUS1
(A43fs)
Deletion
(frameshift variant)
Intellectual disability, autosomal dominant 55, with seizures
GPathogenic
NUS1
(L226fs)
Duplication
(frameshift variant)
Intellectual disability, autosomal dominant 55, with seizures
GLikely pathogenic
NUS1
(C17fs)
Microsatellite
(frameshift variant)
Intellectual disability, autosomal dominant 55, with seizures
GPathogenic
NUS1
Single nucleotide variant
(intron variant)
Intellectual disability, autosomal dominant 55, with seizures
GPathogenic
NUS1
(Q110*)
Single nucleotide variant
(nonsense)
Intellectual disability, autosomal dominant 55, with seizures
GPathogenic
NUS1
(C40Y)
Single nucleotide variant
(missense variant)
Intellectual disability, autosomal dominant 55, with seizures
+1 more
GUncertain significance
NUS1
(Y135*)
Single nucleotide variant
(nonsense)
Intellectual disability, autosomal dominant 55, with seizures
GPathogenic
NUS1
(G74fs)
Deletion
(frameshift variant)
Intellectual disability, autosomal dominant 55, with seizures
GLikely pathogenic
NUS1
(W123del)
Microsatellite
(inframe_deletion)
Intellectual disability, autosomal dominant 55, with seizures
GUncertain significance
NUS1
(W33*)
Single nucleotide variant
(nonsense)
Intellectual disability, autosomal dominant 55, with seizures
GPathogenic
NUS1
(D224G)
Single nucleotide variant
(missense variant)
Congenital disorder of glycosylation, type IAA
+1 more
GUncertain significance
NUS1
(E6Q)
Single nucleotide variant
(missense variant)
Congenital disorder of glycosylation, type IAA
+1 more
GUncertain significance
NUS1
Single nucleotide variant
(splice acceptor variant)
Intellectual disability, autosomal dominant 55, with seizures
+1 more
GLikely pathogenic
NUS1
(W9*)
Single nucleotide variant
(nonsense)
Intellectual disability, autosomal dominant 55, with seizures
GLikely pathogenic
NUS1
Single nucleotide variant
(5 prime UTR variant)
Intellectual disability, autosomal dominant 55, with seizures
+1 more
GBenign
NUS1
(R84G)
Single nucleotide variant
(missense variant)
Intellectual disability, autosomal dominant 55, with seizures
GUncertain significance
NUS1
Single nucleotide variant
(splice donor variant)
not provided
GPathogenic
NUS1
(L251*)
Single nucleotide variant
(nonsense)
not provided
GPathogenic
NUS1
(G245V)
Single nucleotide variant
(missense variant)
not provided
GPathogenic
NUS1
(A80fs)
Deletion
(frameshift variant)
Intellectual disability, autosomal dominant 55, with seizures
GPathogenic
NUS1
(P169R)
Single nucleotide variant
(missense variant)
Intellectual disability, autosomal dominant 55, with seizures
+2 more
GConflicting classifications of pathogenicity
LOC129389624, NUS1
Deletion
Intellectual disability, autosomal dominant 55, with seizures
GPathogenic
NUS1
(V48fs)
Duplication
(frameshift variant)
not provided
+1 more
GPathogenic
NUS1
(D248fs)
Deletion
(frameshift variant)
Intellectual disability, autosomal dominant 55, with seizures
GPathogenic
NUS1
(R290H)
Single nucleotide variant
(missense variant)
Intellectual disability, autosomal dominant 55, with seizures
+2 more
GConflicting classifications of pathogenicity
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