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Links from MedGen

Items: 24

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC129931299, WARS2
+1 more
(W13R)
Single nucleotide variant
(non-coding transcript variant +2 more)
Neurodevelopmental disorder, mitochondrial, with abnormal movements and lactic acidosis, with or without seizures
GLikely pathogenic
LOC129931299, WARS2
+1 more
(W13R)
Single nucleotide variant
(non-coding transcript variant +2 more)
Inborn genetic diseases
+2 more
GConflicting classifications of pathogenicity
WARS2
(R147L +5 more)
Single nucleotide variant
(missense variant)
Neurodevelopmental disorder, mitochondrial, with abnormal movements and lactic acidosis, with or without seizures
GLikely pathogenic
WARS2
(M133T +4 more)
Single nucleotide variant
(missense variant +1 more)
Neurodevelopmental disorder, mitochondrial, with abnormal movements and lactic acidosis, with or without seizures
GLikely pathogenic
WARS2
(V278G +4 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GLikely pathogenic
WARS2
(P172L +4 more)
Single nucleotide variant
(missense variant +1 more)
Neurodevelopmental disorder, mitochondrial, with abnormal movements and lactic acidosis, with or without seizures
+1 more
GUncertain significance
WARS2
(L140F +4 more)
Single nucleotide variant
(missense variant +1 more)
Neurodevelopmental disorder, mitochondrial, with abnormal movements and lactic acidosis, with or without seizures
+1 more
GUncertain significance
WARS2
(A214V +4 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GUncertain significance
WARS2
(R41Q +4 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
WARS2
Single nucleotide variant
(intron variant)
not provided
+2 more
GUncertain significance
WARS2
(S339L +4 more)
Single nucleotide variant
(missense variant +1 more)
Neurodevelopmental disorder, mitochondrial, with abnormal movements and lactic acidosis, with or without seizures
GUncertain significance
WARS2
(S134W +4 more)
Single nucleotide variant
(missense variant +1 more)
Neurodevelopmental disorder, mitochondrial, with abnormal movements and lactic acidosis, with or without seizures
GUncertain significance
WARS2-IT1, LOC129388598
+1 more
Deletion
(splice acceptor variant +3 more)
Neurodevelopmental disorder, mitochondrial, with abnormal movements and lactic acidosis, with or without seizures
GPathogenic
WARS2
(E114* +5 more)
Single nucleotide variant
(nonsense +1 more)
Neurodevelopmental disorder, mitochondrial, with abnormal movements and lactic acidosis, with or without seizures
GPathogenic
WARS2
(G50D +1 more)
Single nucleotide variant
(missense variant +2 more)
Neurodevelopmental disorder, mitochondrial, with abnormal movements and lactic acidosis, with or without seizures
GLikely pathogenic
WARS2
(P106L +2 more)
Single nucleotide variant
(missense variant +1 more)
Neurodevelopmental disorder, mitochondrial, with abnormal movements and lactic acidosis, with or without seizures
GUncertain significance
WARS2
(V178L +5 more)
Single nucleotide variant
(missense variant)
Neurodevelopmental disorder, mitochondrial, with abnormal movements and lactic acidosis, with or without seizures
GPathogenic
WARS2
(G45V +1 more)
Single nucleotide variant
(missense variant +2 more)
Neurodevelopmental disorder, mitochondrial, with abnormal movements and lactic acidosis, with or without seizures
GPathogenic
WARS2
(P266fs +4 more)
Deletion
(frameshift variant +1 more)
Inborn genetic diseases
+3 more
GConflicting classifications of pathogenicity
WARS2
(K313M +4 more)
Single nucleotide variant
(missense variant +1 more)
Neurodevelopmental disorder, mitochondrial, with abnormal movements and lactic acidosis, with or without seizures
+3 more
GConflicting classifications of pathogenicity
WARS2
(L100del +2 more)
Microsatellite
(inframe_deletion +1 more)
Neurodevelopmental disorder, mitochondrial, with abnormal movements and lactic acidosis, with or without seizures
+1 more
GConflicting classifications of pathogenicity
WARS2, WARS2-AS1
+1 more
(W13G)
Single nucleotide variant
(missense variant +2 more)
Parkinsonism-dystonia 3, childhood-onset
+5 more
GConflicting classifications of pathogenicity
WARS2
(S109fs +2 more)
Deletion
(frameshift variant +1 more)
not provided
GUncertain significance
WARS2
(R239* +4 more)
Single nucleotide variant
(nonsense +1 more)
Neurodevelopmental disorder, mitochondrial, with abnormal movements and lactic acidosis, with or without seizures
+1 more
GLikely pathogenic
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