ClinVar for MedGen (Select 815629) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3363160	NM_001017979.3(RAB28):c.247_248dup (p.Tyr84fs)	RAB28 (Y84fs)	Microsatellite (frameshift variant)	Cone-rod dystrophy 18	GPathogenic
Select item 1960852	NM_001017979.3(RAB28):c.328GTG[1] (p.Val111del)	RAB28 (V111del)	Microsatellite (inframe_deletion)	not provided	GUncertain significance
Select item 1172724	NM_001017979.3(RAB28):c.202G>C (p.Asp68His)	RAB28 (D68H)	Single nucleotide variant (missense variant)	Cone-rod dystrophy 18 +1 more	GUncertain significance
Select item 623218	NM_001017979.3(RAB28):c.355_356del (p.Glu119fs)	RAB28 (E119fs)	Deletion (frameshift variant)	Cone-rod dystrophy 18	GLikely pathogenic
Select item 225879	NM_004249.4(RAB28):c.651T>G (p.Cys217Trp)	RAB28 (C217W)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 225878	NM_001017979.3(RAB28):c.172+1G>C	RAB28	Single nucleotide variant (splice donor variant)	Cone-rod dystrophy 18	GPathogenic
Select item 60755	NM_001017979.3(RAB28):c.409C>T (p.Arg137Ter)	RAB28 (R137*)	Single nucleotide variant (nonsense)	Cone-rod dystrophy 18 +1 more	GPathogenic
Select item 60754	NM_001017979.3(RAB28):c.565C>T (p.Gln189Ter)	RAB28 (Q189*)	Single nucleotide variant (nonsense)	Cone-rod dystrophy 18	GPathogenic

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