C1855772[trait identifier] AND "Fulgent Genetics, Fulgent Genetics"[su - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 846439	NM_020964.3(EPG5):c.6761C>T (p.Pro2254Leu)	EPG5 (P2254L)	Single nucleotide variant (missense variant)	Vici syndrome	GUncertain significance
Select item 571485	NM_020964.3(EPG5):c.6436G>A (p.Gly2146Arg)	EPG5 (G2146R)	Single nucleotide variant (missense variant)	Vici syndrome	GUncertain significance
Select item 534609	NM_020964.3(EPG5):c.5631T>C (p.Leu1877=)	EPG5	Single nucleotide variant (synonymous variant)	Vici syndrome	GConflicting classifications of pathogenicity
Select item 645244	NM_020964.3(EPG5):c.4034A>G (p.His1345Arg)	EPG5 (H1345R)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1322825	NM_020964.3(EPG5):c.2863C>T (p.Arg955Ter)	EPG5 (R955*)	Single nucleotide variant (nonsense)	Vici syndrome	GPathogenic
Select item 466264	NM_020964.3(EPG5):c.740C>T (p.Pro247Leu)	EPG5 (P247L)	Single nucleotide variant (missense variant)	Vici syndrome +1 more	GBenign/Likely benign

ClinVar