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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
NARS1
(R534*)
Single nucleotide variant
(nonsense)
not provided
+4 more
GPathogenic
NARS1
(D356A)
Single nucleotide variant
(missense variant)
Neurodevelopmental disorder with microcephaly, impaired language, and gait abnormalities
+4 more
GConflicting classifications of pathogenicity