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Items: 5

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
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
(R147L +5 more)
Single nucleotide variant
(missense variant)
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)
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
GUncertain significance
LOC129931299, WARS2
+1 more
(W13G)
Single nucleotide variant
(missense variant +2 more)
Inborn genetic diseases
+6 more
GConflicting classifications of pathogenicity
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