C1855772[trait identifier] AND "Neuberg Centre For Genomic Medicine, N - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2585568	NM_020964.3(EPG5):c.6155A>G (p.His2052Arg)	EPG5 (H2052R +1 more)	Single nucleotide variant (missense variant)	Vici syndrome	GUncertain significance
Select item 626237	NM_020964.3(EPG5):c.895C>T (p.Arg299Ter)	EPG5 (R299*)	Single nucleotide variant (nonsense)	Vici syndrome	GPathogenic/Likely pathogenic