"Fulgent Genetics, Fulgent Genetics"[submitter] AND "LDLR"[gene] - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 1 to 100 of 110

<< First< Prev

Page of 2

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 431505	NC_000019.10:g.11089321G>C	LDLR, LDLR-AS1	Single nucleotide variant (non-coding transcript variant)	Familial hypercholesterolemia +1 more	GUncertain significance
Select item 250947	NC_000019.10:g.11089403C>A	LDLR, LDLR-AS1	Single nucleotide variant (non-coding transcript variant)	Hypercholesterolemia, familial, 1	GUncertain significance
Select item 250956	NC_000019.10:g.11089414C>G	LDLR, LDLR-AS1	Single nucleotide variant (non-coding transcript variant)	Cardiovascular phenotype +2 more	GPathogenic/Likely pathogenic
Select item 1581582	NM_000527.5(LDLR):c.68-18C>G	LDLR	Single nucleotide variant (intron variant)	not specified +3 more	GLikely benign
Select item 922750	NM_000527.5(LDLR):c.73G>A (p.Asp25Asn)	LDLR (D25N)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 more	GUncertain significance
Select item 441177	NM_000527.5(LDLR):c.118A>G (p.Ile40Val)	LDLR (I40V)	Single nucleotide variant (missense variant)	Familial hypercholesterolemia +1 more	GUncertain significance
Select item 251034	NM_000527.5(LDLR):c.139G>A (p.Asp47Asn)	LDLR (D47N)	Single nucleotide variant (missense variant)	Hypercholesterolemia, familial, 1	GUncertain significance FDA Recognized database
Select item 369857	NM_000527.5(LDLR):c.165C>G (p.Gly55=)	LDLR	Single nucleotide variant (synonymous variant)	not provided +4 more	GBenign/Likely benign
Select item 161273	NM_000527.5(LDLR):c.185C>T (p.Thr62Met)	LDLR (T62M)	Single nucleotide variant (missense variant)	Hypercholesterolemia, familial, 1	GUncertain significance FDA Recognized database
Select item 627786	NM_000527.5(LDLR):c.286G>A (p.Asp96Asn)	LDLR (D96N)	Single nucleotide variant (missense variant +1 more)	Familial hypercholesterolemia +1 more	GUncertain significance
Select item 161266	NM_000527.5(LDLR):c.301G>A (p.Glu101Lys)	LDLR (E101K)	Single nucleotide variant (missense variant +1 more)	Hypercholesterolemia, familial, 1	GPathogenic FDA Recognized database
Select item 3736	NM_000527.4(LDLR):c.313+1G>A	LDLR (R191H)	Single nucleotide variant (missense variant +2 more)	Hypercholesterolemia, familial, 1	GPathogenic FDA Recognized database
Select item 251162	NM_000527.5(LDLR):c.343C>T (p.Arg115Cys)	LDLR (R115C +1 more)	Single nucleotide variant (missense variant +1 more)	Hypercholesterolemia, familial, 1	GLikely pathogenic FDA Recognized database
Select item 225402	NM_000527.5(LDLR):c.344G>A (p.Arg115His)	LDLR (R115H +1 more)	Single nucleotide variant (missense variant +1 more)	Hypercholesterolemia, familial, 1	GUncertain significance FDA Recognized database
Select item 237873	NM_000527.5(LDLR):c.352G>A (p.Asp118Asn)	LDLR (D118N +1 more)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype +3 more	GUncertain significance
Select item 577814	NM_000527.5(LDLR):c.398A>C (p.Asp133Ala)	LDLR (D133A +1 more)	Single nucleotide variant (missense variant +1 more)	Familial hypercholesterolemia +2 more	GConflicting classifications of pathogenicity
Select item 440569	NM_000527.5(LDLR):c.408C>T (p.Asp136=)	LDLR	Single nucleotide variant (synonymous variant +1 more)	Hypercholesterolemia, familial, 1 +3 more	GLikely benign
Select item 251219	NM_000527.5(LDLR):c.427T>C (p.Cys143Arg)	LDLR (C143R +1 more)	Single nucleotide variant (missense variant +1 more)	Familial hypercholesterolemia +1 more	GPathogenic/Likely pathogenic
Select item 440572	NM_000527.5(LDLR):c.431C>T (p.Pro144Leu)	LDLR (P144L +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GUncertain significance
Select item 200918	NM_000527.5(LDLR):c.501C>A (p.Cys167Ter)	LDLR (C167* +1 more)	Single nucleotide variant (nonsense +1 more)	Hypercholesterolemia, familial, 1 +4 more	GPathogenic/Likely pathogenic
Select item 183136	NM_000527.5(LDLR):c.502G>A (p.Asp168Asn)	LDLR (D168N +1 more)	Single nucleotide variant (missense variant +1 more)	Homozygous familial hypercholesterolemia +4 more	GPathogenic/Likely pathogenic
Select item 3686	NM_000527.5(LDLR):c.530C>T (p.Ser177Leu)	LDLR (S177L +1 more)	Single nucleotide variant (missense variant +1 more)	Hypercholesterolemia, familial, 1	GPathogenic FDA Recognized database
Select item 251287	NM_000527.5(LDLR):c.534T>G (p.Asp178Glu)	LDLR (D178E +1 more)	Single nucleotide variant (missense variant +1 more)	Hypercholesterolemia, familial, 1 +2 more	GPathogenic/Likely pathogenic
Select item 927915	NM_000527.5(LDLR):c.547C>A (p.Arg183Ser)	LDLR (R142S +1 more)	Single nucleotide variant (missense variant +1 more)	Hypercholesterolemia, familial, 1 +1 more	GUncertain significance
Select item 3739	NM_000527.5(LDLR):c.551G>A (p.Cys184Tyr)	LDLR (C184Y +1 more)	Single nucleotide variant (missense variant +1 more)	Hypercholesterolemia, familial, 1	GPathogenic FDA Recognized database
Select item 927147	NM_000527.5(LDLR):c.565G>C (p.Val189Leu)	LDLR (V148L +1 more)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype +2 more	GUncertain significance
Select item 251309	NM_000527.5(LDLR):c.590G>T (p.Cys197Phe)	LDLR (C197F +1 more)	Single nucleotide variant (missense variant +1 more)	Hypercholesterolemia, familial, 1	GLikely pathogenic FDA Recognized database
Select item 200919	NM_000527.5(LDLR):c.590G>A (p.Cys197Tyr)	LDLR (C197Y +1 more)	Single nucleotide variant (missense variant +1 more)	Hypercholesterolemia, familial, 1 +4 more	GPathogenic/Likely pathogenic
Select item 440587	NM_000527.5(LDLR):c.643C>T (p.Arg215Cys)	LDLR (R215C +1 more)	Single nucleotide variant (missense variant +1 more)	Familial hypercholesterolemia +1 more	GUncertain significance
Select item 925031	NM_000527.5(LDLR):c.658C>T (p.Pro220Ser)	LDLR (P220S +1 more)	Single nucleotide variant (missense variant +1 more)	Hypercholesterolemia, familial, 1 +1 more	GUncertain significance
Select item 251374	NM_000527.5(LDLR):c.671A>G (p.Asp224Gly)	LDLR (D224G +1 more)	Single nucleotide variant (missense variant +1 more)	Familial hypercholesterolemia +1 more	GPathogenic/Likely pathogenic
Select item 226333	NM_000527.5(LDLR):c.682G>T (p.Glu228Ter)	LDLR (E228* +1 more)	Single nucleotide variant (nonsense +1 more)	Hypercholesterolemia, familial, 1	GPathogenic FDA Recognized database
Select item 3691	NM_000527.5(LDLR):c.682G>A (p.Glu228Lys)	LDLR (E228K +1 more)	Single nucleotide variant (missense variant +1 more)	Hypercholesterolemia, familial, 1	GPathogenic FDA Recognized database
Select item 689347	NM_000527.5(LDLR):c.694G>T (p.Ala232Ser)	LDLR (A191S +1 more)	Single nucleotide variant (missense variant +1 more)	Hypercholesterolemia, familial, 1 +1 more	GUncertain significance
Select item 200920	NM_000527.5(LDLR):c.718G>A (p.Glu240Lys)	LDLR (E240K +2 more)	Single nucleotide variant (missense variant +1 more)	Hypercholesterolemia, familial, 1	GPathogenic FDA Recognized database
Select item 440599	NM_000527.5(LDLR):c.731C>G (p.Ser244Cys)	LDLR (S244C +2 more)	Single nucleotide variant (missense variant +1 more)	Hypercholesterolemia, familial, 1	GUncertain significance 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 843407	NM_000527.5(LDLR):c.758G>A (p.Arg253Gln)	LDLR (R126Q +2 more)	Single nucleotide variant (missense variant +1 more)	Hypercholesterolemia, familial, 1	GUncertain significance FDA Recognized database
Select item 927670	NM_000527.5(LDLR):c.760C>G (p.Gln254Glu)	LDLR (Q254E +2 more)	Single nucleotide variant (missense variant +1 more)	Hypercholesterolemia, familial, 1 +3 more	GConflicting classifications of pathogenicity
Select item 251437	NM_000527.5(LDLR):c.761A>C (p.Gln254Pro)	LDLR (Q254P +2 more)	Single nucleotide variant (missense variant +1 more)	Hypercholesterolemia, familial, 1 +3 more	GPathogenic/Likely pathogenic
Select item 927149	NM_000527.5(LDLR):c.770G>A (p.Arg257Gln)	LDLR (R216Q +2 more)	Single nucleotide variant (missense variant +1 more)	Hypercholesterolemia, familial, 1	GUncertain significance FDA Recognized database
Select item 161287	NM_000527.5(LDLR):c.798T>A (p.Asp266Glu)	LDLR (D266E +2 more)	Single nucleotide variant (missense variant +1 more)	Hypercholesterolemia, familial, 1	GPathogenic FDA Recognized database
Select item 251469	NM_000527.5(LDLR):c.817+1G>A	LDLR	Single nucleotide variant (splice donor variant +1 more)	Hypercholesterolemia, familial, 1 +1 more	GPathogenic/Likely pathogenic
Select item 161281	NM_000527.5(LDLR):c.907C>T (p.Arg303Trp)	LDLR (R303W +3 more)	Single nucleotide variant (missense variant)	Hypercholesterolemia, familial, 1	GUncertain significance FDA Recognized database
Select item 3692	NM_000527.5(LDLR):c.910G>A (p.Asp304Asn)	LDLR (D304N +3 more)	Single nucleotide variant (missense variant)	Hypercholesterolemia, familial, 1	GPathogenic FDA Recognized database
Select item 183102	NM_000527.5(LDLR):c.940G>A (p.Gly314Arg)	LDLR (G314R +3 more)	Single nucleotide variant (missense variant)	not provided +4 more	GUncertain significance
Select item 161282	NM_000527.5(LDLR):c.967G>A (p.Gly323Ser)	LDLR (G323S +3 more)	Single nucleotide variant (missense variant)	Hypercholesterolemia, familial, 1	GUncertain significance FDA Recognized database
Select item 251580	NM_000527.5(LDLR):c.974G>A (p.Cys325Tyr)	LDLR (C325Y +3 more)	Single nucleotide variant (missense variant)	Hypercholesterolemia, familial, 1	GLikely pathogenic FDA Recognized database
Select item 251581	NM_000527.5(LDLR):c.977C>G (p.Ser326Cys)	LDLR (S326C +3 more)	Single nucleotide variant (missense variant)	Hypercholesterolemia, familial, 1	GPathogenic FDA Recognized database
Select item 523729	NM_000527.5(LDLR):c.1009G>A (p.Glu337Lys)	LDLR (E337K +3 more)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 251603	NM_000527.5(LDLR):c.1024G>T (p.Asp342Tyr)	LDLR (D342Y +3 more)	Single nucleotide variant (missense variant)	Hypercholesterolemia, familial, 1	GUncertain significance FDA Recognized database
Select item 36450	NM_000527.5(LDLR):c.1055G>A (p.Cys352Tyr)	LDLR (C352Y +3 more)	Single nucleotide variant (missense variant)	Hypercholesterolemia, familial, 1	GLikely pathogenic FDA Recognized database
Select item 161275	NM_000527.5(LDLR):c.1057G>A (p.Glu353Lys)	LDLR (E353K +3 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 more	GConflicting classifications of pathogenicity
Select item 369860	NM_000527.5(LDLR):c.1060+2T>G	LDLR	Single nucleotide variant (splice donor variant)	Cardiovascular phenotype +3 more	GPathogenic/Likely pathogenic
Select item 251630	NM_000527.5(LDLR):c.1060+40G>A	LDLR	Single nucleotide variant (intron variant)	Hypercholesterolemia, familial, 1 +1 more	GBenign/Likely benign
Select item 183107	NM_000527.5(LDLR):c.1105G>A (p.Val369Met)	LDLR (V369M +3 more)	Single nucleotide variant (missense variant)	Familial hypercholesterolemia +2 more	GUncertain significance
Select item 251679	NM_000527.5(LDLR):c.1124A>G (p.Tyr375Cys)	LDLR (Y375C +3 more)	Single nucleotide variant (missense variant)	Familial hypercholesterolemia +3 more	GPathogenic/Likely pathogenic
Select item 251685	NM_000527.5(LDLR):c.1135T>C (p.Cys379Arg)	LDLR (C379R +3 more)	Single nucleotide variant (missense variant)	not provided +3 more	GPathogenic/Likely pathogenic
Select item 923651	NM_000527.5(LDLR):c.1138G>A (p.Glu380Lys)	LDLR (E253K +3 more)	Single nucleotide variant (missense variant)	Familial hypercholesterolemia +1 more	GUncertain significance
Select item 924165	NM_000527.5(LDLR):c.1187G>T (p.Gly396Val)	LDLR (G355V +3 more)	Single nucleotide variant (missense variant)	Hypercholesterolemia, familial, 1	GUncertain significance FDA Recognized database
Select item 226351	NM_000527.5(LDLR):c.1216C>T (p.Arg406Trp)	LDLR (R406W +3 more)	Single nucleotide variant (missense variant)	Hypercholesterolemia, familial, 1	GPathogenic FDA Recognized database
Select item 36453	NM_000527.5(LDLR):c.1222G>A (p.Glu408Lys)	LDLR (E408K +3 more)	Single nucleotide variant (missense variant)	Hypercholesterolemia, familial, 1	GLikely pathogenic FDA Recognized database
Select item 918996	NM_000527.5(LDLR):c.1234A>T (p.Met412Leu)	LDLR (M285L +3 more)	Single nucleotide variant (missense variant)	Hypercholesterolemia, familial, 1 +1 more	GUncertain significance
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 575372	NM_000527.5(LDLR):c.1273A>G (p.Asn425Asp)	LDLR (N425D +3 more)	Single nucleotide variant (missense variant)	Hypercholesterolemia, familial, 1 +1 more	GUncertain significance
Select item 3694	NM_000527.5(LDLR):c.1285G>A (p.Val429Met)	LDLR (V429M +3 more)	Single nucleotide variant (missense variant)	Hypercholesterolemia, familial, 1	GPathogenic FDA Recognized database
Select item 251792	NM_000527.5(LDLR):c.1329G>C (p.Trp443Cys)	LDLR (W443C +3 more)	Single nucleotide variant (missense variant)	Homozygous familial hypercholesterolemia +4 more	GPathogenic/Likely pathogenic
Select item 661768	NM_000527.5(LDLR):c.1335C>G (p.Asp445Glu)	LDLR (D318E +3 more)	Single nucleotide variant (missense variant)	Hypercholesterolemia, familial, 1 +1 more	GUncertain significance
Select item 162499	NM_000527.5(LDLR):c.1359-1G>A	LDLR, MIR6886	Single nucleotide variant (non-coding transcript variant +1 more)	Hypercholesterolemia, familial, 1	GPathogenic FDA Recognized database
Select item 161284	NM_000527.5(LDLR):c.1444G>A (p.Asp482Asn)	LDLR (D482N +3 more)	Single nucleotide variant (missense variant)	Hypercholesterolemia, familial, 1	GPathogenic FDA Recognized database
Select item 1171903	NM_000527.5(LDLR):c.1579G>A (p.Val527Ile)	LDLR (V359I +3 more)	Single nucleotide variant (missense variant)	Hypercholesterolemia, familial, 1 +1 more	GUncertain significance
Select item 183121	NM_000527.5(LDLR):c.1580T>C (p.Val527Ala)	LDLR (V527A +3 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 226361	NM_000527.5(LDLR):c.1588T>G (p.Phe530Val)	LDLR (F530V +3 more)	Single nucleotide variant (missense variant)	Familial hypercholesterolemia +3 more	GUncertain significance
Select item 1171671	NM_000527.5(LDLR):c.1612A>G (p.Thr538Ala)	LDLR (T370A +3 more)	Single nucleotide variant (missense variant)	Hypercholesterolemia, familial, 1 +2 more	GUncertain significance
Select item 918531	NM_000527.5(LDLR):c.1631A>C (p.Lys544Thr)	LDLR (K503T +3 more)	Single nucleotide variant (missense variant)	Hypercholesterolemia, familial, 1 +1 more	GUncertain significance
Select item 251945	NM_000527.5(LDLR):c.1634G>A (p.Gly545Glu)	LDLR (G545E +3 more)	Single nucleotide variant (missense variant)	Hypercholesterolemia, familial, 1 +2 more	GPathogenic/Likely pathogenic
Select item 3698	NM_000527.5(LDLR):c.1646G>A (p.Gly549Asp)	LDLR (G549D +3 more)	Single nucleotide variant (missense variant)	Hypercholesterolemia, familial, 1 +3 more	GPathogenic/Likely pathogenic
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 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 1059537	NM_000527.5(LDLR):c.1724T>C (p.Leu575Pro)	LDLR (L407P +3 more)	Single nucleotide variant (missense variant)	Familial hypercholesterolemia +2 more	GConflicting classifications of pathogenicity
Select item 252022	NM_000527.5(LDLR):c.1765G>A (p.Asp589Asn)	LDLR (D589N +3 more)	Single nucleotide variant (missense variant)	Hypercholesterolemia, familial, 1	GUncertain significance FDA Recognized database
Select item 640105	NM_000527.5(LDLR):c.1771A>G (p.Asn591Asp)	LDLR (N423D +3 more)	Single nucleotide variant (missense variant)	Hypercholesterolemia, familial, 1 +1 more	GUncertain significance
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 161271	NM_000527.5(LDLR):c.1775G>A (p.Gly592Glu)	LDLR (G592E +3 more)	Single nucleotide variant (missense variant)	Hypercholesterolemia, familial, 1	GPathogenic FDA Recognized database
Select item 161290	NM_000527.5(LDLR):c.1783C>T (p.Arg595Trp)	LDLR (R595W +3 more)	Single nucleotide variant (missense variant)	Hypercholesterolemia, familial, 1	GPathogenic FDA Recognized database
Select item 161264	NM_000527.5(LDLR):c.1816G>T (p.Ala606Ser)	LDLR (A606S +3 more)	Single nucleotide variant (missense variant)	Hypercholesterolemia, familial, 1	GUncertain significance FDA Recognized database
Select item 252089	NM_000527.5(LDLR):c.1860G>A (p.Trp620Ter)	LDLR (W620* +3 more)	Single nucleotide variant (nonsense)	Hypercholesterolemia, familial, 1 +3 more	GPathogenic
Select item 252097	NM_000527.5(LDLR):c.1868TCA[1] (p.Ile624del)	LDLR (I624del +3 more)	Microsatellite (inframe_deletion)	Familial hypercholesterolemia +3 more	GPathogenic/Likely pathogenic
Select item 369855	NM_000527.5(LDLR):c.1868T>C (p.Ile623Thr)	LDLR (I623T +3 more)	Single nucleotide variant (missense variant)	Hypercholesterolemia, familial, 1	GUncertain significance FDA Recognized database
Select item 796433	NM_000527.5(LDLR):c.1869C>A (p.Ile623=)	LDLR	Single nucleotide variant (synonymous variant)	Familial hypercholesterolemia +1 more	GLikely benign
Select item 369869	NM_000527.5(LDLR):c.1911del (p.Asp638fs)	LDLR (D638fs +3 more)	Deletion (frameshift variant)	Cardiovascular phenotype +4 more	GPathogenic/Likely pathogenic
Select item 633289	NM_000527.5(LDLR):c.1985G>A (p.Arg662Lys)	LDLR (R662K +3 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 252163	NM_000527.5(LDLR):c.1999T>C (p.Cys667Arg)	LDLR (C667R +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 3689	NM_000527.5(LDLR):c.2000G>A (p.Cys667Tyr)	LDLR (C667Y +2 more)	Single nucleotide variant (missense variant +1 more)	Hypercholesterolemia, familial, 1	GLikely pathogenic FDA Recognized database
Select item 922061	NM_000527.5(LDLR):c.2018G>A (p.Ser673Asn)	LDLR (S505N +2 more)	Single nucleotide variant (missense variant +1 more)	Hypercholesterolemia, familial, 1 +1 more	GUncertain significance
Select item 927625	NM_000527.5(LDLR):c.2022T>C (p.Asn674=)	LDLR	Single nucleotide variant (synonymous variant +1 more)	Hypercholesterolemia, familial, 1 +1 more	GLikely benign
Select item 3699	NM_000527.5(LDLR):c.2043C>A (p.Cys681Ter)	LDLR (C681* +2 more)	Single nucleotide variant (nonsense +1 more)	Cardiovascular phenotype +5 more	GPathogenic/Likely pathogenic
Select item 3702	NM_000527.5(LDLR):c.2054C>T (p.Pro685Leu)	LDLR (P685L +2 more)	Single nucleotide variant (missense variant +1 more)	Homozygous familial hypercholesterolemia +4 more	GPathogenic/Likely pathogenic
Select item 440678	NM_000527.5(LDLR):c.2089G>A (p.Ala697Thr)	LDLR (A697T +2 more)	Single nucleotide variant (missense variant +1 more)	Familial hypercholesterolemia +1 more	GUncertain significance
Select item 183130	NM_000527.5(LDLR):c.2101G>A (p.Gly701Ser)	LDLR (G701S +2 more)	Single nucleotide variant (missense variant +1 more)	Hypercholesterolemia, familial, 1	GUncertain significance FDA Recognized database

<< First< Prev

Page of 2