"Center for Genomic Medicine, King Faisal Specialist Hospital and Rese - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1912404	NM_012233.3(RAB3GAP1):c.258_261del (p.Gly88fs)	RAB3GAP1 (G88fs)	Deletion (frameshift variant)	Warburg micro syndrome 1 +1 more	GConflicting classifications of pathogenicity
Select item 800891	NM_012233.3(RAB3GAP1):c.559C>T (p.Arg187Ter)	RAB3GAP1 (R187*)	Single nucleotide variant (nonsense)	not provided +1 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 3065165	NM_012233.3(RAB3GAP1):c.991T>C (p.Phe331Leu)	RAB3GAP1 (F331L)	Single nucleotide variant (missense variant)	Warburg micro syndrome 1	GUncertain significance
Select item 191126	NM_012233.3(RAB3GAP1):c.1009C>T (p.Arg337Ter)	RAB3GAP1 (R337*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 3061955	NM_012233.3(RAB3GAP1):c.2710-1G>A	RAB3GAP1	Single nucleotide variant (splice acceptor variant)	Warburg micro syndrome 1	GPathogenic

ClinVar