"Genome-Nilou Lab"[submitter] AND "VLDLR"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 287823	NM_003383.5(VLDLR):c.-42GGC[9]	VLDLR, VLDLR-AS1	Microsatellite (non-coding transcript variant +1 more)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 130713	NM_003383.5(VLDLR):c.82+7G>A	LOC130001468, VLDLR +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	Congenital cerebellar hypoplasia +3 more	GBenign
Select item 1237035	NM_003383.5(VLDLR):c.1066+43C>T	VLDLR	Single nucleotide variant (intron variant)	Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 1 +1 more	GBenign
Select item 130701	NM_003383.5(VLDLR):c.1187-3C>T	VLDLR	Single nucleotide variant (intron variant)	Congenital cerebellar hypoplasia +2 more	GBenign/Likely benign
Select item 674397	NM_003383.5(VLDLR):c.1312+27G>A	VLDLR	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1290630	NM_003383.5(VLDLR):c.1313-17A>T	VLDLR	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 130707	NM_003383.5(VLDLR):c.2067A>G (p.Gln689=)	VLDLR	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
Select item 130709	NM_003383.5(VLDLR):c.2416+8G>T	VLDLR	Single nucleotide variant (intron variant)	not provided +2 more	GBenign

ClinVar