"Baylor Genetics"[submitter] AND "VLDLR"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1032126	NM_003383.5(VLDLR):c.299G>C (p.Gly100Ala)	VLDLR (G100A)	Single nucleotide variant (missense variant)	Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 1	GUncertain significance
Select item 366364	NM_003383.5(VLDLR):c.692G>A (p.Arg231His)	VLDLR (R231H +1 more)	Single nucleotide variant (missense variant)	Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 1 +2 more	GUncertain significance
Select item 1032127	NM_003383.5(VLDLR):c.704T>C (p.Ile235Thr)	VLDLR (I194T +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1032128	NM_003383.5(VLDLR):c.919T>C (p.Ser307Pro)	VLDLR (S266P +1 more)	Single nucleotide variant (missense variant)	Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 1	GUncertain significance
Select item 130702	NM_003383.5(VLDLR):c.1313G>A (p.Gly438Asp)	VLDLR (G438D +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1032125	NM_003383.5(VLDLR):c.2089C>T (p.Leu697Phe)	VLDLR (L656F +1 more)	Single nucleotide variant (missense variant)	Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 1	GUncertain significance
Select item 625636	GRCh37/hg19 9p24.3-13.1(chr9:214309-39156958)	GBA2, MPDZ +195 more	Copy number gain	not provided	GPathogenic

ClinVar