C5677001[trait identifier] AND "Equipe Genetique des Anomalies du Deve - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3220885	NM_006186.4(NR4A2):c.859T>C (p.Phe287Leu)	NR4A2 (F224L +1 more)	Single nucleotide variant (missense variant)	Intellectual developmental disorder with language impairment and early-onset DOPA-responsive dystonia-parkinsonism	GUncertain significance
Select item 2443341	NM_006186.4(NR4A2):c.325del (p.Gln109fs)	NR4A2 (Q109fs +1 more)	Deletion (frameshift variant)	Intellectual developmental disorder with language impairment and early-onset DOPA-responsive dystonia-parkinsonism	GLikely pathogenic

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