ClinVar (all) for Orgtrack (Select 505718) - ClinVar

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Items: 25

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 226709	NM_000527.5(LDLR):c.1060+10G>C	LDLR	Single nucleotide variant (intron variant)	Hypercholesterolemia, familial, 1	GBenign FDA Recognized database
Select item 226368	NM_000527.5(LDLR):c.1706-10G>A	LDLR	Single nucleotide variant (intron variant)	Hypercholesterolemia, familial, 1	GLikely benign FDA Recognized database
Select item 224620	NM_000527.5(LDLR):c.1194C>T (p.Ile398=)	LDLR	Single nucleotide variant (synonymous variant)	Hypercholesterolemia, familial, 1	GLikely benign FDA Recognized database
Select item 224619	NM_000527.5(LDLR):c.941-4G>A	LDLR	Single nucleotide variant (intron variant)	Hypercholesterolemia, familial, 1	GBenign FDA Recognized database
Select item 224618	NM_000527.5(LDLR):c.1836C>T (p.Ala612=)	LDLR	Single nucleotide variant (synonymous variant)	Hypercholesterolemia, familial, 1	GLikely benign FDA Recognized database
Select item 224617	NM_000527.5(LDLR):c.508G>A (p.Asp170Asn)	LDLR (D170N +1 more)	Single nucleotide variant (missense variant +1 more)	not specified +2 more	GUncertain significance
Select item 224616	NM_000527.5(LDLR):c.1691A>G (p.Asn564Ser)	LDLR (N564S +3 more)	Single nucleotide variant (missense variant)	Hypercholesterolemia, familial, 1 +3 more	GPathogenic/Likely pathogenic
Select item 183138	NM_000527.5(LDLR):c.1171G>A (p.Ala391Thr)	LDLR (A391T +3 more)	Single nucleotide variant (missense variant)	Hypercholesterolemia, familial, 1	GBenign 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 161288	NM_000527.5(LDLR):c.1837G>A (p.Val613Ile)	LDLR (V613I +3 more)	Single nucleotide variant (missense variant)	Familial hypercholesterolemia +3 more	GConflicting classifications of pathogenicity
Select item 161286	NM_000527.5(LDLR):c.2252G>A (p.Arg751Gln)	LDLR (R751Q +3 more)	Single nucleotide variant (missense variant)	Hypercholesterolemia, familial, 1	GUncertain significance FDA Recognized database
Select item 161279	NM_000527.5(LDLR):c.806G>A (p.Gly269Asp)	LDLR (G269D +2 more)	Single nucleotide variant (missense variant +1 more)	Hypercholesterolemia, familial, 1	GLikely benign FDA Recognized database
Select item 161277	NM_000527.5(LDLR):c.1432G>A (p.Gly478Arg)	LDLR (G478R +3 more)	Single nucleotide variant (missense variant)	Hypercholesterolemia, familial, 1	GPathogenic FDA Recognized database
Select item 161276	NM_000527.5(LDLR):c.1238C>T (p.Thr413Met)	LDLR (T413M +3 more)	Single nucleotide variant (missense variant)	Hypercholesterolemia, familial, 1	GLikely pathogenic FDA Recognized database
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 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 68104	NM_000527.5(LDLR):c.2231G>A (p.Arg744Gln)	LDLR (R744Q +3 more)	Single nucleotide variant (missense variant)	Hypercholesterolemia, familial, 1	GLikely benign FDA Recognized database
Select item 68102	NM_000527.5(LDLR):c.1875C>T (p.Asn625=)	LDLR	Single nucleotide variant (synonymous variant)	Hypercholesterolemia, familial, 1	GLikely benign FDA Recognized database
Select item 68099	NM_000527.5(LDLR):c.148G>T (p.Ala50Ser)	LDLR (A50S)	Single nucleotide variant (missense variant)	Hypercholesterolemia, familial, 1 +5 more	GConflicting classifications of pathogenicity
Select item 36464	NM_000527.5(LDLR):c.507C>T (p.Asn169=)	LDLR	Single nucleotide variant (synonymous variant +1 more)	Hypercholesterolemia, familial, 1 +4 more	GConflicting classifications of pathogenicity
Select item 36461	NM_000527.5(LDLR):c.2177C>T (p.Thr726Ile)	LDLR (T726I +3 more)	Single nucleotide variant (missense variant)	Hypercholesterolemia, familial, 1	GBenign FDA Recognized database
Select item 36460	NM_000527.5(LDLR):c.2140+5G>A	LDLR	Single nucleotide variant (intron variant)	Hypercholesterolemia, familial, 1	GBenign FDA Recognized database
Select item 36452	NM_000527.5(LDLR):c.1085A>C (p.Asp362Ala)	LDLR (D362A +3 more)	Single nucleotide variant (missense variant)	Hypercholesterolemia, familial, 1	GUncertain significance FDA Recognized database
Select item 36451	NM_000527.5(LDLR):c.1061-8T>C	LDLR	Single nucleotide variant (intron variant)	Hypercholesterolemia, familial, 1	GBenign FDA Recognized database

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Items: 25