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Items: 1 to 100 of 168

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ARTN, ATP6V0B
+1226 more
Inversion
Bilateral polymicrogyria
GLikely pathogenic
LOC129388541, LOC129388542
+570 more
Copy number gain
See cases
GPathogenic
ACOT11, AK4
+421 more
Copy number gain
See cases
GLikely pathogenic
ACOT11, ALG6
+280 more
Copy number loss
See cases
GPathogenic
ACOT11, BSND
+205 more
Copy number loss
See cases
GPathogenic
ACOT11, FAM151A
+25 more
Copy number loss
See cases
GPathogenic
PARS2
Single nucleotide variant
(3 prime UTR variant)
not provided
GLikely benign
PARS2
Single nucleotide variant
(3 prime UTR variant)
not provided
GBenign
PARS2
Single nucleotide variant
(3 prime UTR variant)
not provided
GLikely benign
PARS2
Single nucleotide variant
(3 prime UTR variant)
not provided
GLikely benign
PARS2
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
PARS2
(V457A)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
PARS2
(G455D)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
PARS2
(A445V)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
PARS2
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GBenign
PARS2
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
PARS2
Single nucleotide variant
(synonymous variant)
not provided
GBenign/Likely benign
PARS2
(G419R)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
PARS2
Single nucleotide variant
(synonymous variant)
not specified
GLikely benign
PARS2
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
PARS2
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
PARS2
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
PARS2
(E388K)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
PARS2
Single nucleotide variant
(synonymous variant)
PARS2-related disorder
+1 more
GBenign/Likely benign
PARS2
(A386V)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
PARS2
(A385V)
Single nucleotide variant
(missense variant)
PARS2-related disorder
+1 more
GBenign/Likely benign
PARS2
Duplication
(frameshift variant)
Developmental and epileptic encephalopathy, 75
GPathogenic
PARS2
(P377A)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
PARS2
(P377S)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 75
GUncertain significance
PARS2
Single nucleotide variant
(synonymous variant)
not specified
+1 more
GBenign/Likely benign
PARS2
(A372T)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
PARS2
(P364R)
Single nucleotide variant
(missense variant)
not specified
+3 more
GConflicting classifications of pathogenicity
PARS2
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
PARS2
(V361fs)
Microsatellite
(frameshift variant)
not provided
GUncertain significance
PARS2
(D359Y)
Single nucleotide variant
(missense variant)
PARS2-related disorder
+2 more
GConflicting classifications of pathogenicity
PARS2
(T357I)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
PARS2
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
PARS2
(R346W)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
PARS2
(G341S)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
PARS2
(P332L)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
PARS2
(F325V)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
PARS2
(S319T)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
PARS2
(Q296R)
Single nucleotide variant
(missense variant)
not provided
GLikely benign
PARS2
(Q296*)
Single nucleotide variant
(nonsense)
Developmental and epileptic encephalopathy, 75
GLikely pathogenic
PARS2
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
PARS2
(C292R)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 75
+1 more
GUncertain significance
PARS2
(N291S)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
PARS2
(Q289*)
Single nucleotide variant
(nonsense)
Inborn genetic diseases
GLikely pathogenic
PARS2
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
PARS2
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GBenign/Likely benign
PARS2
Single nucleotide variant
(synonymous variant)
not specified
+1 more
GLikely benign
PARS2
(S279L)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 75
+1 more
GConflicting classifications of pathogenicity
PARS2
(R275C)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
PARS2
(R269W)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
PARS2
(V263A)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
PARS2
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
PARS2
(G253D)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
PARS2
(G252R)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
PARS2
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
PARS2
(T250I)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
PARS2
(D247Y)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
PARS2
(D247N)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
PARS2
(K236E)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
PARS2
(N235S)
Single nucleotide variant
(missense variant)
not provided
+1 more
GBenign
PARS2
(S224N)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
PARS2
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
PARS2
(E203K)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 75
GUncertain significance
PARS2
(R202G)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 75
GUncertain significance
PARS2
(G201D)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
PARS2
(R200H)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
PARS2
(R200C)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
PARS2
(R195H)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
PARS2
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
PARS2
(P192T)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
PARS2
(D190H)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
PARS2
(K187R)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
PARS2
(K187*)
Single nucleotide variant
(nonsense)
Myoepithelial tumor
GUncertain significance
PARS2
(R186K)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
PARS2
(R186G)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
PARS2
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
PARS2
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
PARS2
(K175Q)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
PARS2
(K175E)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
PARS2
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
PARS2
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
PARS2
Single nucleotide variant
(synonymous variant)
PARS2-related disorder
+2 more
GBenign/Likely benign
PARS2
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
PARS2
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
PARS2
(R143*)
Single nucleotide variant
(nonsense)
not provided
GUncertain significance
PARS2
(R133W)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
PARS2
(W128*)
Single nucleotide variant
(nonsense)
not provided
GLikely pathogenic
PARS2
(P124L)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
PARS2
(S123I)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
PARS2
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GLikely benign
PARS2
(G114S)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 75
GUncertain significance
PARS2
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
PARS2
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
PARS2
(E108G)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
PARS2
(R103Q)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
PARS2
(V102M)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
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