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Items: 1 to 100 of 526

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ABR, ABR-AS1
+962 more
Copy number gain
See cases
GPathogenic
MIR4521, MIR497
+922 more
Copy number gain
See cases
GPathogenic
LOC130060077, LOC130060078
+911 more
Copy number gain
Chromosome 17p13.3 duplication syndrome
GPathogenic
ACADVL, ACAP1
+461 more
Copy number gain
See cases
GPathogenic
SPEM3, TEKT1
+229 more
Copy number loss
See cases
GPathogenic
ALOX12B, ALOX15B
+191 more
Copy number loss
See cases
GPathogenic
ALOX12B, ALOX15B
+141 more
Deletion
Li-Fraumeni syndrome
GPathogenic
LOC129390832, LOC130060171
+141 more
Deletion
Dyskeratosis congenita
+2 more
GPathogenic
KDM6B
(H2R)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
KDM6B
(R11fs)
Deletion
(frameshift variant)
Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities
GLikely pathogenic
KDM6B
(A13S)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
KDM6B
(R14Q)
Single nucleotide variant
(missense variant)
KDM6B-related condition
GLikely benign
KDM6B
(L19F)
Single nucleotide variant
(missense variant)
KDM6B-related condition
GUncertain significance
KDM6B
(G21D)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
KDM6B
(P32L)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
KDM6B
(P37L)
Single nucleotide variant
(missense variant)
KDM6B-related condition
GUncertain significance
KDM6B
(S39T)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GLikely benign
KDM6B
Single nucleotide variant
(intron variant)
not provided
GLikely benign
KDM6B
Single nucleotide variant
(splice acceptor variant)
Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities
GLikely pathogenic
KDM6B
Single nucleotide variant
(splice acceptor variant)
Inborn genetic diseases
GLikely pathogenic
KDM6B
Single nucleotide variant
(synonymous variant)
KDM6B-related condition
GLikely benign
KDM6B
(P54S)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
KDM6B
(P55R)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
KDM6B
Single nucleotide variant
(synonymous variant)
KDM6B-related condition
+1 more
GBenign/Likely benign
KDM6B
(P61L)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
KDM6B
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
KDM6B
(P62S)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GLikely benign
KDM6B
(P62T)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
KDM6B
(P62A)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
KDM6B
(P74S)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
KDM6B
(Y75*)
Single nucleotide variant
(nonsense)
not provided
GUncertain significance
KDM6B
Single nucleotide variant
(splice donor variant)
Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities
GLikely pathogenic
KDM6B
Single nucleotide variant
(intron variant)
not provided
GUncertain significance
KDM6B
(P83L)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GLikely benign
KDM6B
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
KDM6B
(H87Y)
Single nucleotide variant
(missense variant)
Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities
GUncertain significance
KDM6B
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
KDM6B
(G95S)
Single nucleotide variant
(missense variant)
Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities
GUncertain significance
KDM6B
(Q98E)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
KDM6B
(R102Q)
Single nucleotide variant
(missense variant)
Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities
GUncertain significance
KDM6B
(A105G)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
KDM6B
(Q115*)
Single nucleotide variant
(nonsense)
Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities
GLikely pathogenic
KDM6B
(R128G)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
KDM6B
(R135*)
Single nucleotide variant
(nonsense)
not provided
GPathogenic
KDM6B
(A141fs)
Duplication
(frameshift variant)
Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities
GLikely pathogenic
KDM6B
(G144A)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
KDM6B
(R146H)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GLikely benign
KDM6B
(I147T)
Single nucleotide variant
(missense variant)
KDM6B-related condition
GUncertain significance
KDM6B
(R149*)
Single nucleotide variant
(nonsense)
not provided
GConflicting classifications of pathogenicity
KDM6B
(R149P)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
KDM6B
Single nucleotide variant
(intron variant)
not specified
GLikely benign
KDM6B
Single nucleotide variant
(intron variant)
Inborn genetic diseases
GUncertain significance
KDM6B
(L155F)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
KDM6B
(R166*)
Single nucleotide variant
(nonsense)
Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities
GPathogenic
KDM6B
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
KDM6B
(Q175*)
Single nucleotide variant
(nonsense)
Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities
GLikely pathogenic
KDM6B
(H181P)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
KDM6B
Single nucleotide variant
(intron variant)
Inborn genetic diseases
GLikely benign
KDM6B
(Y188C)
Single nucleotide variant
(missense variant)
KDM6B-related condition
GUncertain significance
KDM6B
(K191R)
Single nucleotide variant
(missense variant)
not provided
GLikely benign
KDM6B
(R192Q)
Single nucleotide variant
(missense variant)
Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities
+1 more
GUncertain significance
KDM6B
(G193fs)
Deletion
(frameshift variant)
Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities
GLikely pathogenic
KDM6B
(P195L)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
KDM6B
(P196A)
Single nucleotide variant
(missense variant)
Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities
GUncertain significance
KDM6B
(P196L)
Single nucleotide variant
(missense variant)
Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities
GUncertain significance
KDM6B
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
KDM6B
(R199*)
Single nucleotide variant
(nonsense)
Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities
+1 more
GPathogenic/Likely pathogenic
KDM6B
(V209L)
Single nucleotide variant
(missense variant)
KDM6B-related condition
+2 more
GConflicting classifications of pathogenicity
KDM6B
(E220fs)
Deletion
(frameshift variant)
Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities
GLikely pathogenic
KDM6B
(E220D)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
KDM6B
(R229*)
Single nucleotide variant
(nonsense)
Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities
GLikely pathogenic
KDM6B
(R231T)
Single nucleotide variant
(missense variant)
KDM6B-related condition
GUncertain significance
KDM6B
(T238A)
Single nucleotide variant
(missense variant)
Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities
GUncertain significance
KDM6B
(G243E)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
KDM6B
Microsatellite
(inframe insertion)
KDM6B-related condition
GLikely benign
KDM6B
Microsatellite
(inframe_insertion)
KDM6B-related condition
GBenign
KDM6B
Microsatellite
(inframe_insertion)
not provided
+1 more
GBenign
KDM6B
Microsatellite
(inframe_insertion)
Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities
+1 more
GBenign/Likely benign
KDM6B
Microsatellite
(inframe_deletion)
KDM6B-related condition
GUncertain significance
KDM6B
(P264del)
Microsatellite
(inframe_deletion)
KDM6B-related condition
GBenign
KDM6B
Microsatellite
(inframe_deletion)
KDM6B-related condition
+1 more
GBenign
KDM6B
Microsatellite
(inframe_deletion)
not provided
GUncertain significance
KDM6B
Microsatellite
(inframe_deletion)
Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities
+2 more
GBenign
KDM6B
Single nucleotide variant
(synonymous variant)
KDM6B-related condition
GLikely benign
KDM6B
Insertion
(inframe_insertion)
not provided
GLikely benign
KDM6B
(P259S)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
KDM6B
Single nucleotide variant
(synonymous variant)
KDM6B-related condition
+1 more
GLikely benign
KDM6B
Single nucleotide variant
(synonymous variant)
KDM6B-related condition
GLikely benign
KDM6B
Single nucleotide variant
(synonymous variant)
KDM6B-related condition
GLikely benign
KDM6B
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
KDM6B
Duplication
(inframe_insertion)
not provided
GLikely benign
KDM6B
Single nucleotide variant
(synonymous variant)
KDM6B-related condition
GLikely benign
KDM6B
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
KDM6B
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GBenign
KDM6B
(P273S)
Single nucleotide variant
(missense variant)
Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities
GUncertain significance
KDM6B
(Q275E)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
KDM6B
(P279S)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
KDM6B
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
KDM6B
(S283N)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
KDM6B
(A289V)
Single nucleotide variant
(missense variant)
Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities
GUncertain significance
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