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Items: 4

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
NR4A2
(P534S +1 more)
Single nucleotide variant
(missense variant)
Intellectual developmental disorder with language impairment and early-onset DOPA-responsive dystonia-parkinsonism
GUncertain significance
NR4A2
(R323T +1 more)
Single nucleotide variant
(missense variant)
Intellectual developmental disorder with language impairment and early-onset DOPA-responsive dystonia-parkinsonism
GLikely pathogenic
NR4A2
Indel
(nonsense)
Intellectual developmental disorder with language impairment and early-onset DOPA-responsive dystonia-parkinsonism
GLikely pathogenic
NR4A2
(P243A +1 more)
Single nucleotide variant
(missense variant)
Intellectual developmental disorder with language impairment and early-onset DOPA-responsive dystonia-parkinsonism
GUncertain significance
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