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Items: 1 to 100 of 440

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC129993132, LOC129993133
+420 more
Copy number loss
See cases
GPathogenic
AADAT, ABCE1
+1310 more
Copy number gain
See cases
GPathogenic
AADAT, ABCE1
+1245 more
Copy number gain
See cases
GPathogenic
QKILA, RAB33B
+1102 more
Copy number gain
See cases
GPathogenic
LINC02479, LINC02485
+185 more
Copy number loss
See cases
GPathogenic
LOC129993091, LOC129993092
+1068 more
Copy number gain
See cases
GPathogenic
LOC132090717, LOC132090718
+1051 more
Copy number gain
See cases
GPathogenic
ELF2, LINC00498
+48 more
Copy number loss
See cases
GUncertain significance
LOC129993335, LOC129993336
+1026 more
Copy number gain
See cases
GPathogenic
LOC126807166, LOC129993105
+5 more
Copy number gain
See cases
GLikely benign
NAA15, NDUFC1
Single nucleotide variant
(5 prime UTR variant +1 more)
not provided
GBenign
NAA15, NDUFC1
Single nucleotide variant
(intron variant)
not provided
GBenign
NAA15, NDUFC1
Single nucleotide variant
(intron variant)
not provided
GBenign
NAA15, NDUFC1
(P7L)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
NAA15, NDUFC1
(K9E)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
NAA15, NDUFC1
(E10*)
Single nucleotide variant
(nonsense +1 more)
not provided
GPathogenic
NAA15, NDUFC1
(R16G)
Single nucleotide variant
(missense variant +1 more)
not provided
GLikely pathogenic
NAA15, NDUFC1
Deletion
(intron variant +1 more)
not provided
GLikely pathogenic
NAA15, NDUFC1
Single nucleotide variant
(intron variant)
not provided
GBenign
NAA15
Single nucleotide variant
(intron variant)
Intellectual disability, autosomal dominant 50
GUncertain significance
NAA15
Single nucleotide variant
(intron variant)
not provided
GBenign
NAA15
Single nucleotide variant
(intron variant)
not provided
GLikely benign
NAA15
Single nucleotide variant
(splice acceptor variant)
Intellectual disability, autosomal dominant 50
+3 more
GLikely pathogenic
NAA15
(Y21*)
Single nucleotide variant
(nonsense)
Intellectual disability, autosomal dominant 50
GPathogenic
NAA15
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
NAA15
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
NAA15
(G29*)
Single nucleotide variant
(nonsense)
not provided
GPathogenic
NAA15
(C33Y)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
NAA15
(Q35*)
Single nucleotide variant
(nonsense)
not provided
GPathogenic
NAA15
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
NAA15
(H45R)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
NAA15
Duplication
(splice donor variant)
Intellectual disability, autosomal dominant 50
GLikely pathogenic
NAA15
Single nucleotide variant
(intron variant)
not provided
GLikely benign
NAA15
Single nucleotide variant
(intron variant)
not provided
GBenign
NAA15
Deletion
(intron variant)
not provided
GBenign
NAA15
Deletion
(intron variant)
not provided
GLikely benign
NAA15
(T48N)
Single nucleotide variant
(missense variant)
Intellectual disability, autosomal dominant 50
GUncertain significance
NAA15
(T55fs)
Deletion
(frameshift variant)
Intellectual disability, autosomal dominant 50
GPathogenic
NAA15
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
NAA15
(N57fs)
Deletion
(frameshift variant)
Inborn genetic diseases
GPathogenic
NAA15
(K61R)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
NAA15
(A65V)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
NAA15
(R70C)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
NAA15
(R70H)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
NAA15
(L73S)
Single nucleotide variant
(missense variant)
Neurodevelopmental disorder
GLikely pathogenic
NAA15
(L73F)
Single nucleotide variant
(missense variant)
Intellectual disability, autosomal dominant 50
GLikely pathogenic
NAA15
Single nucleotide variant
(synonymous variant)
not provided
GUncertain significance
NAA15
(D76fs)
Deletion
(frameshift variant)
Intellectual disability, autosomal dominant 50
+1 more
GPathogenic
NAA15
(K78fs)
Duplication
(frameshift variant)
Intellectual disability, autosomal dominant 50
GLikely pathogenic
NAA15
Single nucleotide variant
(synonymous variant)
not provided
GUncertain significance
NAA15
(K78R)
Single nucleotide variant
(missense variant)
Intellectual disability, autosomal dominant 50
GUncertain significance
NAA15
(H80fs)
Insertion
(frameshift variant)
Intellectual disability, autosomal dominant 50
GPathogenic
NAA15
(H80fs)
Deletion
(frameshift variant)
Inborn genetic diseases
+4 more
GPathogenic/Likely pathogenic
NAA15
Single nucleotide variant
(intron variant)
not provided
GLikely benign
NAA15
(C82Y)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
NAA15
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
NAA15
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
NAA15
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
NAA15
(G87D)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
NAA15
Single nucleotide variant
(synonymous variant)
not provided
GBenign
NAA15
(L89P)
Single nucleotide variant
(missense variant)
Intellectual disability, autosomal dominant 50
+1 more
GConflicting classifications of pathogenicity
NAA15
(K95del)
Microsatellite
(inframe_deletion +1 more)
not provided
GUncertain significance
NAA15
(K94*)
Single nucleotide variant
(nonsense)
not provided
GPathogenic
NAA15
(Y103*)
Single nucleotide variant
(nonsense)
Intellectual disability, autosomal dominant 50
GPathogenic
NAA15
(W109*)
Single nucleotide variant
(nonsense)
Inborn genetic diseases
GPathogenic
NAA15
(W109*)
Single nucleotide variant
(nonsense)
Intellectual disability, autosomal dominant 50
GLikely pathogenic
NAA15
(D112N)
Single nucleotide variant
(missense variant)
Intellectual disability, autosomal dominant 50
GPathogenic
NAA15
(N113S)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
NAA15
Deletion
(inframe_indel)
not provided
GUncertain significance
NAA15
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
NAA15
(Q124*)
Single nucleotide variant
(nonsense)
NAA15-related disorder
GLikely pathogenic
NAA15
(R128*)
Single nucleotide variant
(nonsense)
Intellectual disability, autosomal dominant 50
+2 more
GPathogenic
NAA15
(Y133fs)
Duplication
(frameshift variant)
Intellectual disability, autosomal dominant 50
GLikely pathogenic
NAA15
(G132S)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
NAA15
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
NAA15
Single nucleotide variant
(intron variant)
NAA15-related disorder
GUncertain significance
NAA15
Deletion
(intron variant)
not provided
GLikely benign
NAA15
Duplication
(intron variant)
not provided
GBenign
NAA15
Deletion
(intron variant)
not provided
GBenign
NAA15
Single nucleotide variant
(intron variant)
not provided
GLikely benign
NAA15
Deletion
(intron variant)
not provided
GBenign
NAA15
Single nucleotide variant
(intron variant)
not provided
GBenign
NAA15
Single nucleotide variant
(intron variant)
not provided
GLikely benign
NAA15
Single nucleotide variant
(splice acceptor variant)
Intellectual disability, autosomal dominant 50
GLikely pathogenic
NAA15
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
NAA15
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
NAA15
(Q142H)
Single nucleotide variant
(missense variant)
Neurodevelopmental disorder
GUncertain significance
NAA15
(R144*)
Single nucleotide variant
(nonsense)
not provided
+2 more
GPathogenic
NAA15
(P145fs)
Deletion
(frameshift variant)
not provided
GPathogenic
NAA15
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
NAA15
(Q147*)
Single nucleotide variant
(nonsense)
not provided
GPathogenic
NAA15
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
NAA15
(A155G)
Single nucleotide variant
(missense variant)
See cases
GUncertain significance
NAA15
(H159Y)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
NAA15
(H159R)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
NAA15
(L161*)
Single nucleotide variant
(nonsense)
not provided
GPathogenic
NAA15
(K169E)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
NAA15
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
NAA15
(Q178P)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
NAA15
Single nucleotide variant
(intron variant)
not provided
GLikely benign
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