ClinVar for MedGen (Select 1684784) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3586845	NM_006759.4(UGP2):c.1091dup (p.Asn364fs)	UGP2 (N353fs +2 more)	Duplication (frameshift variant)	Developmental and epileptic encephalopathy, 83	GUncertain significance
Select item 3359140	NM_006759.4(UGP2):c.1419_1419+14del	UGP2	Deletion (splice donor variant)	Developmental and epileptic encephalopathy, 83	GUncertain significance
Select item 3359117	NM_001001521.2(UGP2):c.-15+1G>A	UGP2	Single nucleotide variant (splice donor variant)	Developmental and epileptic encephalopathy, 83	GUncertain significance
Select item 3186088	NM_006759.4(UGP2):c.154A>C (p.Lys52Gln)	UGP2 (K41Q +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 3068684	NM_006759.4(UGP2):c.1089G>A (p.Leu363=)	UGP2	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 83	GBenign
Select item 1684237	NM_006759.4(UGP2):c.255+44G>A	UGP2	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1300129	NM_001242896.3(DEPDC5):c.1460G>A (p.Arg487Gln)	DEPDC5 (R459Q +1 more)	Single nucleotide variant (missense variant +1 more)	Familial focal epilepsy with variable foci +2 more	GUncertain significance
Select item 805980	NM_006759.4(UGP2):c.34A>G (p.Met12Val)	UGP2 (M1V +1 more)	Single nucleotide variant (missense variant +3 more)	D-6618 +2 more	GPathogenic/Likely pathogenic

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