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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
NR4A2
(G222V +1 more)
Single nucleotide variant
(missense variant)
Intellectual developmental disorder with language impairment and early-onset DOPA-responsive dystonia-parkinsonism
GLikely pathogenic
NR4A2
(H211Q +1 more)
Single nucleotide variant
(missense variant)
Intellectual developmental disorder with language impairment and early-onset DOPA-responsive dystonia-parkinsonism
GUncertain significance