ClinVar for MedGen (Select 1794239) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1684212	NM_021729.6(VPS11):c.*38A>G	VPS11	Single nucleotide variant (3 prime UTR variant +1 more)	Hypomyelinating leukodystrophy 12 +1 more	GBenign
Select item 1684211	NM_021729.6(VPS11):c.1977C>T (p.Phe659=)	VPS11	Single nucleotide variant (synonymous variant +1 more)	Hypomyelinating leukodystrophy 12 +1 more	GBenign
Select item 1326862	NM_021729.6(VPS11):c.136C>T (p.Pro46Ser)	LOC130006887, VPS11 (P46S)	Single nucleotide variant (5 prime UTR variant +2 more)	Dystonia 32	GPathogenic
Select item 1305992	NM_021729.6(VPS11):c.1640G>A (p.Arg547His)	VPS11 (R537H +4 more)	Single nucleotide variant (missense variant +1 more)	Hypomyelinating leukodystrophy 12 +2 more	GUncertain significance
Select item 1168494	NM_021729.6(VPS11):c.486C>G (p.Gly162=)	VPS11	Single nucleotide variant (synonymous variant +1 more)	Dystonia 32 +2 more	GBenign
Select item 1165119	NM_021729.6(VPS11):c.1238+14C>T	VPS11	Single nucleotide variant (intron variant +1 more)	Hypomyelinating leukodystrophy 12 +2 more	GBenign
Select item 1164301	NM_021729.6(VPS11):c.1266C>T (p.Tyr422=)	VPS11	Single nucleotide variant (synonymous variant +1 more)	not provided +2 more	GBenign

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