"GeneDx"[submitter] AND "LDLR-AS1"[gene] - ClinVar - NCBI

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Items: 9

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59111	GRCh38/hg38 19p13.2-13.12(chr19:10315258-14048994)x3	LOC130063608, LOC130063609 +484 more	Copy number gain	See cases	GPathogenic
Select item 237861	NM_000527.5(LDLR):c.-188C>T	LDLR, LDLR-AS1	Single nucleotide variant (non-coding transcript variant)	Hypercholesterolemia, familial, 1	GUncertain significance FDA Recognized database
Select item 250944	NC_000019.10:g.11089396C>T	LDLR, LDLR-AS1	Single nucleotide variant (non-coding transcript variant)	Hypercholesterolemia, familial, 1 +3 more	GConflicting classifications of pathogenicity
Select item 226299	NC_000019.10:g.11089429C>T	LDLR, LDLR-AS1	Single nucleotide variant (non-coding transcript variant)	Hypercholesterolemia, familial, 1	GUncertain significance FDA Recognized database
Select item 226303	NM_000527.5(LDLR):c.6del (p.Trp4fs)	LDLR, LDLR-AS1 (W4fs)	Deletion (non-coding transcript variant +2 more)	Hypercholesterolemia, familial, 1 +3 more	GPathogenic
Select item 250981	NM_000527.5(LDLR):c.44T>C (p.Leu15Pro)	LDLR, LDLR-AS1 (L15P)	Single nucleotide variant (non-coding transcript variant +1 more)	Hypercholesterolemia, familial, 1	GLikely pathogenic FDA Recognized database
Select item 250985	NM_000527.5(LDLR):c.56C>T (p.Ala19Val)	LDLR, LDLR-AS1 (A19V)	Single nucleotide variant (non-coding transcript variant +1 more)	Familial hypercholesterolemia +2 more	GUncertain significance
Select item 161272	NM_000527.5(LDLR):c.58G>A (p.Gly20Arg)	LDLR, LDLR-AS1 (G20R)	Single nucleotide variant (non-coding transcript variant +1 more)	Hypercholesterolemia, familial, 1	GBenign FDA Recognized database
Select item 235625	NM_000527.5(LDLR):c.67+18C>A	LDLR, LDLR-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +4 more	GBenign/Likely benign