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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
VARS2
(R490* +2 more)
Single nucleotide variant
(nonsense)
VARS2-related disorder
+1 more
GConflicting classifications of pathogenicity
VARS1, VARS2
(P661T)
Single nucleotide variant
(missense variant)
Neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy
GLikely pathogenic