"Revvity Omics, Revvity"[submitter] AND "EPG5"[gene] - ClinVar

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Items: 20

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1220545	NM_020964.3(EPG5):c.5943-9_5943-5del	EPG5	Microsatellite (intron variant)	Vici syndrome +1 more	GPathogenic/Likely pathogenic
Select item 2689026	NM_020964.3(EPG5):c.5840_5845del (p.Ala1947_Gln1948del)	EPG5	Deletion (inframe_deletion)	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 1962626	NM_020964.3(EPG5):c.5623G>T (p.Ala1875Ser)	EPG5 (A1875S)	Single nucleotide variant (missense variant)	Vici syndrome	GUncertain significance
Select item 2441268	NM_020964.3(EPG5):c.5404_5405delinsTT (p.Glu1802Leu)	EPG5 (E1802L)	Indel (missense variant)	Vici syndrome	GUncertain significance
Select item 2440061	NM_020964.3(EPG5):c.5304+1G>A	EPG5	Single nucleotide variant (splice donor variant)	Vici syndrome +1 more	GLikely pathogenic
Select item 1003033	NM_020964.3(EPG5):c.5123G>A (p.Gly1708Asp)	EPG5 (G1708D)	Single nucleotide variant (missense variant)	Vici syndrome	GUncertain significance
Select item 2441265	NM_020964.3(EPG5):c.4816G>A (p.Gly1606Ser)	EPG5 (G1606S)	Single nucleotide variant (missense variant)	Vici syndrome	GUncertain significance
Select item 1040177	NM_020964.3(EPG5):c.4771G>A (p.Gly1591Ser)	EPG5 (G1591S)	Single nucleotide variant (missense variant)	Vici syndrome	GUncertain significance
Select item 1000938	NM_020964.3(EPG5):c.4498T>A (p.Leu1500Met)	EPG5 (L1500M)	Single nucleotide variant (missense variant)	Vici syndrome	GUncertain significance
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 1324337	NM_020964.3(EPG5):c.3477G>A (p.Trp1159Ter)	EPG5 (W1159*)	Single nucleotide variant (nonsense)	Vici syndrome	GLikely pathogenic
Select item 1030740	NM_020964.3(EPG5):c.3332T>C (p.Leu1111Pro)	EPG5 (L1111P)	Single nucleotide variant (missense variant)	Vici syndrome	GUncertain significance
Select item 534607	NM_020964.3(EPG5):c.2998A>G (p.Met1000Val)	EPG5 (M1000V)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GConflicting classifications of pathogenicity
Select item 1322825	NM_020964.3(EPG5):c.2863C>T (p.Arg955Ter)	EPG5 (R955*)	Single nucleotide variant (nonsense)	Vici syndrome	GPathogenic
Select item 2441267	NM_020964.3(EPG5):c.2479A>G (p.Ile827Val)	EPG5 (I827V)	Single nucleotide variant (missense variant)	Vici syndrome	GUncertain significance
Select item 579995	NM_020964.3(EPG5):c.2189T>C (p.Val730Ala)	EPG5 (V730A)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 2441266	NM_020964.3(EPG5):c.1694C>G (p.Thr565Ser)	EPG5 (T565S)	Single nucleotide variant (missense variant)	Vici syndrome	GUncertain significance
Select item 1153649	NM_020964.3(EPG5):c.1104C>T (p.Phe368=)	EPG5	Single nucleotide variant (synonymous variant)	Vici syndrome	GConflicting classifications of pathogenicity
Select item 267452	NM_020964.3(EPG5):c.1A>G (p.Met1Val)	EPG5 (M1V)	Single nucleotide variant (missense variant +1 more)	Vici syndrome	GLikely pathogenic

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Items: 20