"GeneDx"[submitter] AND "VPS11"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59772	GRCh38/hg38 11q22.1-25(chr11:100348599-135040246)x3	AASDHPPT, ABCG4 +1199 more	Copy number gain	See cases	GPathogenic
Select item 2182041	NM_021729.6(VPS11):c.1419C>G (p.Phe473Leu)	VPS11 (F463L +4 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1305992	NM_021729.6(VPS11):c.1640G>A (p.Arg547His)	VPS11 (R537H +4 more)	Single nucleotide variant (missense variant +1 more)	Dystonia 32 +2 more	GUncertain significance
Select item 790365	NM_021729.6(VPS11):c.2078T>C (p.Met693Thr)	VPS11 (M683T +4 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 218366	NM_021729.6(VPS11):c.2536T>G (p.Cys846Gly)	VPS11 (C846G +4 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 1168497	NM_021729.6(VPS11):c.2666A>G (p.Lys889Arg)	VPS11 (K879R +4 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 1032883	NM_021729.6(VPS11):c.2806C>T (p.His936Tyr)	VPS11 (H936Y +4 more)	Single nucleotide variant (missense variant +1 more)	Hypomyelinating leukodystrophy 12 +1 more	GUncertain significance
Select item 253520	GRCh37/hg19 11q23.3(chr11:115215434-120559928)x3	ABCG4, APOA1 +72 more	Copy number gain	See cases	GPathogenic

ClinVar