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

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Items: 37

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 251010	NM_000527.5(LDLR):c.81C>T (p.Cys27=)	LDLR	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +4 more	GBenign
Select item 251053	NM_000527.5(LDLR):c.190+56G>A	LDLR	Single nucleotide variant (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 265898	NM_000527.5(LDLR):c.314-50T>C	LDLR	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 161261	NM_000527.5(LDLR):c.757C>T (p.Arg253Trp)	LDLR (R253W +2 more)	Single nucleotide variant (missense variant +1 more)	Hypercholesterolemia, familial, 1	GUncertain significance FDA Recognized database
Select item 183097	NM_000527.5(LDLR):c.829G>A (p.Glu277Lys)	LDLR (E277K +3 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +4 more	GConflicting classifications of pathogenicity
Select item 161280	NM_000527.5(LDLR):c.859G>A (p.Gly287Ser)	LDLR (G287S +3 more)	Single nucleotide variant (missense variant)	Hypercholesterolemia, familial, 1	GUncertain significance FDA Recognized database
Select item 523739	NM_000527.5(LDLR):c.940+36G>A	LDLR	Single nucleotide variant (intron variant)	Hypercholesterolemia, familial, 1 +1 more	GBenign
Select item 183106	NM_000527.5(LDLR):c.1027G>A (p.Gly343Ser)	LDLR (G343S +3 more)	Single nucleotide variant (missense variant)	Hypercholesterolemia, familial, 1	GPathogenic FDA Recognized database
Select item 1199380	NM_000527.5(LDLR):c.1043C>T (p.Ala348Val)	LDLR (A180V +3 more)	Single nucleotide variant (missense variant)	Hypercholesterolemia, familial, 1	GUncertain significance
Select item 226710	NM_000527.5(LDLR):c.1060+7=	LDLR	Single nucleotide variant (intron variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 226709	NM_000527.5(LDLR):c.1060+10G>C	LDLR	Single nucleotide variant (intron variant)	Hypercholesterolemia, familial, 1	GBenign FDA Recognized database
Select item 251656	NM_000527.5(LDLR):c.1088C>A (p.Thr363Asn)	LDLR (T363N +3 more)	Single nucleotide variant (missense variant)	Hypercholesterolemia, familial, 1 +1 more	GConflicting classifications of pathogenicity
Select item 251806	NM_000527.5(LDLR):c.1359-30C>T	LDLR, MIR6886	Single nucleotide variant (non-coding transcript variant +1 more)	Cardiovascular phenotype +3 more	GBenign
Select item 200916	NM_000527.5(LDLR):c.1413A>G (p.Arg471=)	LDLR	Single nucleotide variant (synonymous variant)	Hypercholesterolemia, familial, 1 +4 more	GBenign
Select item 1172935	NM_000527.5(LDLR):c.1586+53A>G	LDLR	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 251936	NM_000527.5(LDLR):c.1617C>T (p.Pro539=)	LDLR	Single nucleotide variant (synonymous variant)	not specified +4 more	GBenign
Select item 251983	NM_000527.5(LDLR):c.1705+56C>T	LDLR	Single nucleotide variant (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 1172936	NM_000527.5(LDLR):c.1705+182C>T	LDLR	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1172937	NM_000527.5(LDLR):c.1705+209C>T	LDLR	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 251985	NM_000527.5(LDLR):c.1706-69G>T	LDLR	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 440657	NM_000527.5(LDLR):c.1706-55A>C	LDLR	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 251997	NM_000527.5(LDLR):c.1725C>T (p.Leu575=)	LDLR	Single nucleotide variant (synonymous variant)	Hypercholesterolemia, familial, 1 +4 more	GBenign/Likely benign
Select item 200917	NM_000527.5(LDLR):c.1773C>T (p.Asn591=)	LDLR	Single nucleotide variant (synonymous variant)	Familial hypercholesterolemia +4 more	GBenign/Likely benign
Select item 161288	NM_000527.5(LDLR):c.1837G>A (p.Val613Ile)	LDLR (V613I +3 more)	Single nucleotide variant (missense variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 237869	NM_000527.5(LDLR):c.1920C>T (p.Asn640=)	LDLR	Single nucleotide variant (synonymous variant)	Hypercholesterolemia, familial, 1	GBenign FDA Recognized database
Select item 252131	NM_000527.5(LDLR):c.1959T>C (p.Val653=)	LDLR	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +4 more	GBenign/Likely benign
Select item 252262	NM_000527.5(LDLR):c.2232A>G (p.Arg744=)	LDLR	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +4 more	GBenign
Select item 226389	NM_000527.5(LDLR):c.2289G>T (p.Glu763Asp)	LDLR (E763D +3 more)	Single nucleotide variant (missense variant)	Hypercholesterolemia, familial, 1 +4 more	GBenign/Likely benign
Select item 252277	NM_000527.5(LDLR):c.2312-136A>G	LDLR	Single nucleotide variant (intron variant)	Hypercholesterolemia, familial, 1 +1 more	GBenign/Likely benign
Select item 265907	NM_000527.5(LDLR):c.2389+46C>T	LDLR	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 431551	NM_000527.5(LDLR):c.2389+47G>A	LDLR	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 252311	NM_000527.5(LDLR):c.2389+57C>T	LDLR	Single nucleotide variant (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 36462	NM_000527.5(LDLR):c.2479G>A (p.Val827Ile)	LDLR (V827I +3 more)	Single nucleotide variant (missense variant)	Hypercholesterolemia, familial, 1	GUncertain significance FDA Recognized database
Select item 1172938	NM_000527.5(LDLR):c.2548-147G>A	LDLR	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 265908	NM_000527.5(LDLR):c.2548-80G>A	LDLR	Single nucleotide variant (intron variant)	Hypercholesterolemia, familial, 1 +1 more	GBenign
Select item 252355	NM_000527.5(LDLR):c.2548-42A>G	LDLR	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 265910	NM_000527.5(LDLR):c.*52G>A	LDLR	Single nucleotide variant (3 prime UTR variant)	Familial hypercholesterolemia +2 more	GBenign

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Items: 37