"Baylor Genetics"[submitter] AND "RAB3GAP1"[gene] - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 561095	NM_012233.3(RAB3GAP1):c.469G>T (p.Gly157Ter)	RAB3GAP1 (G157*)	Single nucleotide variant (nonsense)	Warburg micro syndrome 1	GPathogenic
Select item 560923	NM_012233.3(RAB3GAP1):c.1310C>G (p.Ser437Ter)	RAB3GAP1 (S437*)	Single nucleotide variant (nonsense)	Warburg micro syndrome 1	GPathogenic
Select item 1029183	NM_012233.3(RAB3GAP1):c.1376A>G (p.Lys459Arg)	RAB3GAP1 (K459R)	Single nucleotide variant (missense variant)	Warburg micro syndrome 1 +2 more	GUncertain significance

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