"Blueprint Genetics"[submitter] AND "RAB28"[gene] - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 866668	NM_001017979.3(RAB28):c.502del (p.Leu168fs)	RAB28 (L168fs)	Deletion (frameshift variant)	Retinal dystrophy	GLikely pathogenic
Select item 865912	NM_001017979.3(RAB28):c.392-9C>G	RAB28	Single nucleotide variant (intron variant)	Retinal dystrophy	GUncertain significance
Select item 865911	NM_001017979.3(RAB28):c.266T>G (p.Val89Gly)	RAB28 (V89G)	Single nucleotide variant (missense variant)	Retinal dystrophy	GUncertain significance

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