"Baylor Genetics"[submitter] AND "EPG5"[gene] - ClinVar - NCBI

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Items: 13

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1033560	NM_020964.3(EPG5):c.7735C>G (p.Arg2579Gly)	EPG5 (R2579G)	Single nucleotide variant (missense variant)	Vici syndrome	GUncertain significance
Select item 1030743	NM_020964.3(EPG5):c.6340C>T (p.Arg2114Cys)	EPG5 (R2114C)	Single nucleotide variant (missense variant)	Vici syndrome	GUncertain significance
Select item 626245	NM_020964.3(EPG5):c.4751T>A (p.Leu1584Ter)	EPG5 (L1584*)	Single nucleotide variant (nonsense)	Vici syndrome	GPathogenic/Likely pathogenic
Select item 1030742	NM_020964.3(EPG5):c.4745T>C (p.Leu1582Pro)	EPG5 (L1582P)	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 1030741	NM_020964.3(EPG5):c.4108C>T (p.Leu1370Phe)	EPG5 (L1370F)	Single nucleotide variant (missense variant)	Vici syndrome	GUncertain significance
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 839415	NM_020964.3(EPG5):c.2716C>T (p.Gln906Ter)	EPG5 (Q906*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 1030739	NM_020964.3(EPG5):c.2107A>G (p.Ile703Val)	EPG5 (I703V)	Single nucleotide variant (missense variant)	Vici syndrome	GUncertain significance
Select item 565558	NM_020964.3(EPG5):c.1820C>T (p.Pro607Leu)	EPG5 (P607L)	Single nucleotide variant (missense variant)	Vici syndrome	GUncertain significance
Select item 582488	NM_020964.3(EPG5):c.1696A>G (p.Ser566Gly)	EPG5 (S566G)	Single nucleotide variant (missense variant)	Vici syndrome	GUncertain significance
Select item 828120	NM_020964.3(EPG5):c.1640C>T (p.Ser547Phe)	EPG5 (S547F)	Single nucleotide variant (missense variant)	Vici syndrome	GUncertain significance
Select item 1030744	NM_020964.3(EPG5):c.721C>T (p.Arg241Ter)	EPG5 (R241*)	Single nucleotide variant (nonsense)	Vici syndrome	GPathogenic/Likely pathogenic