ClinVar for MedGen (Select 208674) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1210217	NC_000023.11:g.155264167_155265545del	LOC130068896, LOC130068897 +1 more	Deletion	Early-onset parkinsonism-intellectual disability syndrome	GPathogenic
Select item 995221	NM_171998.4(RAB39B):c.386C>T (p.Thr129Ile)	RAB39B (T129I)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 587830	NM_171998.4(RAB39B):c.215+3G>A	RAB39B	Single nucleotide variant (intron variant)	Early-onset parkinsonism-intellectual disability syndrome +1 more	GUncertain significance
Select item 218362	NM_171998.4(RAB39B):c.574G>A (p.Gly192Arg)	RAB39B (G192R)	Single nucleotide variant (missense variant)	Parkinson disease, X-linked dominant	GPathogenic
Select item 157665	NC_000023.11:g.(155246216_?)_(?_155288781)del	CLIC2, LOC130068896 +2 more	Deletion	Early-onset parkinsonism-intellectual disability syndrome	GPathogenic
Select item 156532	NM_171998.4(RAB39B):c.503C>A (p.Thr168Lys)	RAB39B (T168K)	Single nucleotide variant (missense variant)	not provided	GPathogenic

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