ClinVar for MedGen (Select 934594) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1500222	NM_022916.6(VPS33A):c.599G>C (p.Arg200Pro)	VPS33A (R184P +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1256644	NM_022916.6(VPS33A):c.1165-82GT[19]	VPS33A	Microsatellite (intron variant)	Mucopolysaccharidosis-plus syndrome +1 more	GBenign
Select item 1237523	NM_022916.6(VPS33A):c.1440+23G>A	VPS33A	Single nucleotide variant (intron variant)	Mucopolysaccharidosis-plus syndrome +1 more	GBenign
Select item 1029870	NM_022916.6(VPS33A):c.1457C>T (p.Ser486Leu)	VPS33A (S486L +3 more)	Single nucleotide variant (missense variant)	Mucopolysaccharidosis-plus syndrome	GUncertain significance
Select item 1029869	NM_022916.6(VPS33A):c.1420A>G (p.Met474Val)	VPS33A (M463V +3 more)	Single nucleotide variant (missense variant)	Mucopolysaccharidosis-plus syndrome	GUncertain significance
Select item 778667	NM_022916.6(VPS33A):c.282T>C (p.Ala94=)	VPS33A	Single nucleotide variant (synonymous variant)	Mucopolysaccharidosis-plus syndrome +1 more	GBenign/Likely benign
Select item 708440	NM_022916.6(VPS33A):c.624G>A (p.Arg208=)	VPS33A	Single nucleotide variant (synonymous variant)	Mucopolysaccharidosis-plus syndrome +1 more	GBenign/Likely benign
Select item 374985	NM_022916.6(VPS33A):c.1492C>T (p.Arg498Trp)	VPS33A (R498W +3 more)	Single nucleotide variant (missense variant)	Mucopolysaccharidosis-plus syndrome	GPathogenic

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