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Items: 1 to 100 of 392

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC123775388, LOC123775389
+1449 more
Copy number gain
See cases
GPathogenic
LOC129389591, LOC129389592
+558 more
Copy number loss
See cases
GPathogenic
LOC129997076, LOC129997077
+460 more
Copy number loss
See cases
GPathogenic
AFG1L, AK9
+472 more
Copy number loss
See cases
GPathogenic
AK9, AKAP7
+519 more
Copy number loss
See cases
GPathogenic
ARHGAP18, ASF1A
+316 more
Copy number loss
Intellectual disability, autosomal dominant 55, with seizures
GPathogenic
LOC129997064, LOC129997065
+91 more
Copy number loss
See cases
GLikely pathogenic
LOC129389639, LOC129389640
+254 more
Copy number loss
See cases
GPathogenic
HINT3, HSF2
+400 more
Deletion
Interstitial 6q microdeletion syndrome
GPathogenic
ASF1A, CEP85L
+68 more
Copy number loss
See cases
GLikely pathogenic
DCBLD1, GOPC
+24 more
Copy number gain
See cases
GUncertain significance
ASF1A, CENPW
+147 more
Copy number gain
See cases
GPathogenic
LOC101927919, LOC126859772
+5 more
Deletion
Intellectual disability
+2 more
GPathogenic
LOC101927919, LOC129389624
+3 more
Deletion
Intellectual disability
+2 more
GPathogenic
LOC101927919, NUS1
Single nucleotide variant
(non-coding transcript variant)
not provided
GLikely benign
NUS1
Single nucleotide variant
not provided
GLikely benign
NUS1
Single nucleotide variant
not provided
GBenign
NUS1
Single nucleotide variant
(5 prime UTR variant)
not provided
GLikely benign
NUS1
(M1fs)
Deletion
(frameshift variant +1 more)
Congenital disorder of glycosylation, type IAA
GLikely pathogenic
NUS1
Single nucleotide variant
(5 prime UTR variant)
Intellectual disability, autosomal dominant 55, with seizures
+1 more
GBenign
NUS1
Single nucleotide variant
(5 prime UTR variant)
not provided
GUncertain significance
NUS1
(M1I)
Single nucleotide variant
(missense variant +1 more)
Congenital disorder of glycosylation, type IAA
GUncertain significance
NUS1
(L4fs)
Duplication
(frameshift variant)
not provided
GLikely pathogenic
NUS1
Single nucleotide variant
(synonymous variant)
Congenital disorder of glycosylation, type IAA
GLikely benign
NUS1
(G3R)
Single nucleotide variant
(missense variant)
Congenital disorder of glycosylation, type IAA
GUncertain significance
NUS1
Deletion
(inframe_deletion)
Congenital disorder of glycosylation, type IAA
GUncertain significance
NUS1
(Y5*)
Single nucleotide variant
(nonsense)
Congenital disorder of glycosylation, type IAA
GPathogenic
NUS1
(E6Q)
Single nucleotide variant
(missense variant)
Congenital disorder of glycosylation, type IAA
+1 more
GUncertain significance
NUS1
(E6D)
Single nucleotide variant
(missense variant)
Congenital disorder of glycosylation, type IAA
GUncertain significance
NUS1
Deletion
(inframe_deletion)
not provided
GUncertain significance
NUS1
(L7V)
Single nucleotide variant
(missense variant)
NUS1-related condition
GUncertain significance
NUS1
(V8L)
Single nucleotide variant
(missense variant)
Congenital disorder of glycosylation, type IAA
GUncertain significance
NUS1
(W9fs)
Microsatellite
(frameshift variant)
not provided
GPathogenic
NUS1
(V8A)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
NUS1
Single nucleotide variant
(synonymous variant)
Congenital disorder of glycosylation, type IAA
GLikely benign
NUS1
Single nucleotide variant
(synonymous variant)
Congenital disorder of glycosylation, type IAA
GLikely benign
NUS1
(W9*)
Single nucleotide variant
(nonsense)
Intellectual disability, autosomal dominant 55, with seizures
GLikely pathogenic
NUS1
(V11fs)
Duplication
(frameshift variant)
not provided
GLikely pathogenic
NUS1
Duplication
(inframe_insertion)
Congenital disorder of glycosylation, type IAA
GUncertain significance
NUS1
(W9C)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
NUS1
(R10G)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
NUS1
(R10W)
Single nucleotide variant
(missense variant)
Congenital disorder of glycosylation, type IAA
GUncertain significance
NUS1
(R10Q)
Single nucleotide variant
(missense variant)
Congenital disorder of glycosylation, type IAA
GUncertain significance
NUS1
Single nucleotide variant
(synonymous variant)
Congenital disorder of glycosylation, type IAA
GLikely benign
NUS1
Single nucleotide variant
(synonymous variant)
Congenital disorder of glycosylation, type IAA
GLikely benign
NUS1
(L12P)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
NUS1
Single nucleotide variant
(synonymous variant)
Congenital disorder of glycosylation, type IAA
GLikely benign
NUS1
Single nucleotide variant
(synonymous variant)
Congenital disorder of glycosylation, type IAA
GLikely benign
NUS1
Single nucleotide variant
(synonymous variant)
Congenital disorder of glycosylation, type IAA
GLikely benign
NUS1
Single nucleotide variant
(synonymous variant)
Congenital disorder of glycosylation, type IAA
GLikely benign
NUS1
(C17fs)
Microsatellite
(frameshift variant)
Intellectual disability, autosomal dominant 55, with seizures
GPathogenic
NUS1
(L16F)
Single nucleotide variant
(missense variant)
Congenital disorder of glycosylation, type IAA
GUncertain significance
NUS1
(C17R)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
NUS1
(L18V)
Single nucleotide variant
(missense variant)
Congenital disorder of glycosylation, type IAA
GUncertain significance
NUS1
(H19L)
Single nucleotide variant
(missense variant)
Congenital disorder of glycosylation, type IAA
GUncertain significance
NUS1
Single nucleotide variant
(synonymous variant)
Congenital disorder of glycosylation, type IAA
GLikely benign
NUS1
(R20P)
Single nucleotide variant
(missense variant)
Congenital disorder of glycosylation, type IAA
GUncertain significance
NUS1
Single nucleotide variant
(synonymous variant)
Congenital disorder of glycosylation, type IAA
GLikely benign
NUS1
Single nucleotide variant
(synonymous variant)
Congenital disorder of glycosylation, type IAA
GLikely benign
NUS1
Single nucleotide variant
(synonymous variant)
Congenital disorder of glycosylation, type IAA
GLikely benign
NUS1
(S24del)
Microsatellite
(inframe_deletion)
NUS1-related condition
+1 more
GUncertain significance
NUS1
(T23I)
Single nucleotide variant
(missense variant)
Congenital disorder of glycosylation, type IAA
+1 more
GUncertain significance
NUS1
Single nucleotide variant
(synonymous variant)
Congenital disorder of glycosylation, type IAA
+1 more
GLikely benign
NUS1
(W25*)
Indel
(nonsense)
Congenital disorder of glycosylation, type IAA
GPathogenic
NUS1
(W25*)
Single nucleotide variant
(nonsense)
Congenital disorder of glycosylation, type IAA
GPathogenic
NUS1
(W25C)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
NUS1
(V28L)
Single nucleotide variant
(missense variant)
Microcephaly
GUncertain significance
NUS1
Single nucleotide variant
(synonymous variant)
Congenital disorder of glycosylation, type IAA
GLikely benign
NUS1
Indel
(inframe_indel)
Congenital disorder of glycosylation, type IAA
GUncertain significance
NUS1
(T32fs)
Deletion
(frameshift variant)
Congenital disorder of glycosylation, type IAA
GPathogenic
NUS1
(T32I)
Single nucleotide variant
(missense variant)
Congenital disorder of glycosylation, type IAA
GUncertain significance
NUS1
(W33R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NUS1
(N34fs)
Duplication
(frameshift variant)
Congenital disorder of glycosylation, type IAA
GPathogenic
NUS1
(W33*)
Single nucleotide variant
(nonsense)
Intellectual disability, autosomal dominant 55, with seizures
GPathogenic
NUS1
(N34D)
Single nucleotide variant
(missense variant)
Congenital disorder of glycosylation, type IAA
GUncertain significance
NUS1
(W35*)
Single nucleotide variant
(nonsense)
Inborn genetic diseases
GPathogenic
NUS1
(W35C)
Single nucleotide variant
(missense variant)
Congenital disorder of glycosylation, type IAA
GUncertain significance
NUS1
(I36M)
Single nucleotide variant
(missense variant)
Congenital disorder of glycosylation, type IAA
+1 more
GUncertain significance
NUS1
(W37*)
Single nucleotide variant
(nonsense)
Congenital disorder of glycosylation, type IAA
GPathogenic
NUS1
Single nucleotide variant
(synonymous variant)
Congenital disorder of glycosylation, type IAA
GLikely benign
NUS1
Single nucleotide variant
(synonymous variant)
Congenital disorder of glycosylation, type IAA
GLikely benign
NUS1
Single nucleotide variant
(synonymous variant)
Congenital disorder of glycosylation, type IAA
GLikely benign
NUS1
(S45fs)
Duplication
(frameshift variant)
Congenital disorder of glycosylation, type IAA
GPathogenic
NUS1
(C40Y)
Single nucleotide variant
(missense variant)
Intellectual disability, autosomal dominant 55, with seizures
+1 more
GUncertain significance
NUS1
(V48fs)
Duplication
(frameshift variant)
not provided
+1 more
GPathogenic
NUS1
(A43fs)
Deletion
(frameshift variant)
Intellectual disability, autosomal dominant 55, with seizures
GPathogenic
NUS1
Single nucleotide variant
(synonymous variant)
Congenital disorder of glycosylation, type IAA
GLikely benign
NUS1
(C41W)
Single nucleotide variant
(missense variant)
Congenital disorder of glycosylation, type IAA
GUncertain significance
NUS1
(R42C)
Single nucleotide variant
(missense variant)
Congenital disorder of glycosylation, type IAA
GUncertain significance
NUS1
(R42P)
Single nucleotide variant
(missense variant)
Congenital disorder of glycosylation, type IAA
GUncertain significance
NUS1
(A43T)
Single nucleotide variant
(missense variant)
Congenital disorder of glycosylation, type IAA
GUncertain significance
NUS1
(A43G)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
NUS1
(A44T)
Single nucleotide variant
(missense variant)
Congenital disorder of glycosylation, type IAA
GUncertain significance
NUS1
(S45P)
Single nucleotide variant
(missense variant)
Congenital disorder of glycosylation, type IAA
GUncertain significance
NUS1
(A46P)
Single nucleotide variant
(missense variant)
Congenital disorder of glycosylation, type IAA
GUncertain significance
NUS1
Single nucleotide variant
(synonymous variant)
Congenital disorder of glycosylation, type IAA
GLikely benign
NUS1
Single nucleotide variant
(synonymous variant)
Congenital disorder of glycosylation, type IAA
GLikely benign
NUS1
(P51L)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
NUS1
Single nucleotide variant
(synonymous variant)
Congenital disorder of glycosylation, type IAA
GLikely benign
NUS1
(L52V)
Single nucleotide variant
(missense variant)
Congenital disorder of glycosylation, type IAA
GUncertain significance
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