C1838625[trait identifier] AND "GeneReviews"[submitter] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 100771	NM_012233.3(RAB3GAP1):c.52A>C (p.Thr18Pro)	RAB3GAP1 (T18P)	Single nucleotide variant (missense variant)	Warburg micro syndrome 1	GPathogenic
Select item 100772	NM_012233.3(RAB3GAP1):c.71A>T (p.Glu24Val)	RAB3GAP1 (E24V)	Single nucleotide variant (missense variant)	Warburg micro syndrome 1	GPathogenic
Select item 545409	NM_012233.3(RAB3GAP1):c.560G>C (p.Arg187Pro)	RAB3GAP1 (R187P)	Single nucleotide variant (missense variant)	Warburg micro syndrome 1	Gnot provided
Select item 7057	NM_012233.3(RAB3GAP1):c.649-2A>G	RAB3GAP1	Single nucleotide variant (splice acceptor variant)	Warburg micro syndrome 1	GPathogenic
Select item 7058	NM_012233.3(RAB3GAP1):c.748+1G>A	RAB3GAP1	Single nucleotide variant (splice donor variant)	Inborn genetic diseases +2 more	GPathogenic
Select item 100769	NM_012233.3(RAB3GAP1):c.899+1G>A	RAB3GAP1	Single nucleotide variant (splice donor variant)	not provided +1 more	GPathogenic
Select item 545410	NM_012233.3(RAB3GAP1):c.1039C>T (p.Arg347Ter)	RAB3GAP1 (R347*)	Single nucleotide variant (nonsense)	not provided +2 more	GPathogenic
Select item 7056	NM_012233.3(RAB3GAP1):c.2801del (p.Pro934fs)	RAB3GAP1 (P934fs +1 more)	Deletion (frameshift variant)	Warburg micro syndrome 1	GPathogenic
Select item 545411	NM_012233.3(RAB3GAP1):c.2865_2866insTTCT (p.Pro956fs)	RAB3GAP1 (P963fs +1 more)	Insertion (frameshift variant)	Warburg micro syndrome 1	Gnot provided

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