ClinVar (all) for Orgtrack (Select 507262) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 977999	NM_000527.5(LDLR):c.910del (p.Asp304fs)	LDLR (D136fs +3 more)	Deletion (frameshift variant)	Hypercholesterolemia, familial, 1	GPathogenic
Select item 977998	NM_000527.5(LDLR):c.850_852del (p.Cys284del)	LDLR (C116del +3 more)	Deletion (inframe_deletion)	Hypercholesterolemia, familial, 1	GLikely pathogenic
Select item 977997	NM_000527.5(LDLR):c.845T>G (p.Phe282Cys)	LDLR (F114C +3 more)	Single nucleotide variant (missense variant)	Hypercholesterolemia, familial, 1	GUncertain significance FDA Recognized database
Select item 977996	NM_000527.5(LDLR):c.844T>C (p.Phe282Leu)	LDLR (F114L +3 more)	Single nucleotide variant (missense variant)	Hypercholesterolemia, familial, 1	GUncertain significance FDA Recognized database
Select item 977995	NM_000527.5(LDLR):c.843_844insGGAC (p.Phe282fs)	LDLR (F114fs +3 more)	Insertion (frameshift variant)	Hypercholesterolemia, familial, 1	GPathogenic
Select item 977994	NM_000527.5(LDLR):c.1502C>G (p.Ala501Gly)	LDLR (A333G +3 more)	Single nucleotide variant (missense variant)	Hypercholesterolemia, familial, 1	GUncertain significance
Select item 977993	NM_000527.5(LDLR):c.1492_1493del (p.Val498fs)	LDLR (V330fs +3 more)	Deletion (frameshift variant)	Hypercholesterolemia, familial, 1 +2 more	GPathogenic
Select item 977992	NM_000527.5(LDLR):c.1501G>A (p.Ala501Thr)	LDLR (A333T +3 more)	Single nucleotide variant (missense variant)	Hypercholesterolemia, familial, 1	GLikely pathogenic
Select item 977991	NM_000527.5(LDLR):c.478T>A (p.Cys160Ser)	LDLR (C119S +1 more)	Single nucleotide variant (missense variant +1 more)	Hypercholesterolemia, familial, 1	GLikely pathogenic
Select item 977990	NM_000527.5(LDLR):c.1406T>A (p.Ile469Asn)	LDLR (I301N +3 more)	Single nucleotide variant (missense variant)	Hypercholesterolemia, familial, 1	GUncertain significance
Select item 977989	NM_000527.5(LDLR):c.1309_1310insTCGCTCTGGACACGTAGGTGG (p.Ala437delinsValAlaLeuAspThrTer)	LDLR	Insertion (nonsense)	Cardiovascular phenotype +1 more	GPathogenic
Select item 977988	NM_000527.5(LDLR):c.641G>A (p.Trp214Ter)	LDLR (W173* +1 more)	Single nucleotide variant (nonsense +1 more)	Hypercholesterolemia, familial, 1	GPathogenic
Select item 977987	NM_000527.5(LDLR):c.1019G>T (p.Cys340Phe)	LDLR (C172F +3 more)	Single nucleotide variant (missense variant)	Familial hypercholesterolemia +1 more	GLikely pathogenic
Select item 977986	NM_000384.3(APOB):c.44_50del (p.Pro15fs)	APOB, LOC106560211 (P15fs)	Deletion (frameshift variant)	Hypercholesterolemia, familial, 1	GPathogenic
Select item 977985	NM_000384.3(APOB):c.35_39del (p.Leu12fs)	APOB, LOC106560211 (L12fs)	Deletion (frameshift variant)	Hypercholesterolemia, familial, 1	GPathogenic
Select item 977984	NM_000527.5(LDLR):c.670_675dup (p.Asp224_Lys225dup)	LDLR	Duplication (inframe_insertion +1 more)	Hypercholesterolemia, familial, 1	GLikely pathogenic
Select item 977983	NM_000527.5(LDLR):c.2368_2374del (p.Ile792fs)	LDLR (I614fs +3 more)	Deletion (frameshift variant)	Hypercholesterolemia, familial, 1	GPathogenic
Select item 977982	NM_000527.5(LDLR):c.2287del (p.Glu763fs)	LDLR (E585fs +3 more)	Deletion (frameshift variant)	Hypercholesterolemia, familial, 1	GLikely pathogenic
Select item 977981	NM_000527.5(LDLR):c.2108_2114del (p.Leu703fs)	LDLR (L535fs +2 more)	Deletion (frameshift variant +1 more)	Hypercholesterolemia, familial, 1	GPathogenic
Select item 922076	NM_000527.5(LDLR):c.496G>A (p.Ala166Thr)	LDLR (A166T +1 more)	Single nucleotide variant (missense variant +1 more)	Hypercholesterolemia, familial, 1 +1 more	GUncertain significance
Select item 918325	NM_000527.5(LDLR):c.980A>C (p.His327Pro)	LDLR (H200P +3 more)	Single nucleotide variant (missense variant)	Hypercholesterolemia, familial, 1	GUncertain significance FDA Recognized database
Select item 630543	NM_000527.5(LDLR):c.2001_2002del (p.Cys667_Glu668delinsTer)	LDLR	Microsatellite (nonsense +1 more)	Hypercholesterolemia, familial, 1 +1 more	GPathogenic/Likely pathogenic
Select item 628375	NM_000384.3(APOB):c.12696T>A (p.Tyr4232Ter)	APOB (Y4232*)	Single nucleotide variant (nonsense)	Familial hypobetalipoproteinemia 1 +3 more	GConflicting classifications of pathogenicity
Select item 440652	NM_000527.5(LDLR):c.1586+5G>C	LDLR	Single nucleotide variant (intron variant)	Familial hypercholesterolemia +3 more	GConflicting classifications of pathogenicity
Select item 438330	NM_000527.5(LDLR):c.2407_2424del (p.Cys803_Leu808del)	LDLR	Deletion (inframe_deletion)	Familial hypercholesterolemia +3 more	GConflicting classifications of pathogenicity
Select item 375809	NM_000527.5(LDLR):c.1186+5G>C	LDLR	Single nucleotide variant (intron variant)	Hypercholesterolemia, familial, 1	GUncertain significance FDA Recognized database
Select item 375803	NM_000527.5(LDLR):c.940_940+14del	LDLR	Deletion (splice donor variant)	Hypercholesterolemia, familial, 1 +1 more	GPathogenic
Select item 369862	NM_000527.5(LDLR):c.1358+2T>C	LDLR	Single nucleotide variant (splice donor variant)	Cardiovascular phenotype +2 more	GConflicting classifications of pathogenicity
Select item 369848	NM_000527.5(LDLR):c.1102T>C (p.Cys368Arg)	LDLR (C368R +3 more)	Single nucleotide variant (missense variant)	Familial hypercholesterolemia +3 more	GPathogenic/Likely pathogenic
Select item 252335	NM_000527.5(LDLR):c.2430G>A (p.Trp810Ter)	LDLR (W810* +3 more)	Single nucleotide variant (nonsense)	Hypercholesterolemia, familial, 1 +3 more	GPathogenic
Select item 252330	NM_000527.5(LDLR):c.2416dup (p.Val806fs)	LDLR (V806fs +3 more)	Duplication (frameshift variant)	Hypercholesterolemia, familial, 1	GPathogenic FDA Recognized database
Select item 252313	NM_000527.5(LDLR):c.2390-2A>G	LDLR	Single nucleotide variant (splice acceptor variant)	Familial hypercholesterolemia +2 more	GPathogenic
Select item 252302	NM_000527.5(LDLR):c.2389+2T>G	LDLR	Single nucleotide variant (splice donor variant)	Hypercholesterolemia, familial, 1	GPathogenic FDA Recognized database
Select item 252258	NM_000527.5(LDLR):c.2215C>T (p.Gln739Ter)	LDLR (Q739* +3 more)	Single nucleotide variant (nonsense)	Hypercholesterolemia, familial, 1	GPathogenic FDA Recognized database
Select item 252214	NM_000527.5(LDLR):c.2092del (p.Cys698fs)	LDLR (C657fs +2 more)	Deletion (frameshift variant +1 more)	Familial hypercholesterolemia +1 more	GPathogenic/Likely pathogenic
Select item 252187	NM_000527.5(LDLR):c.2042G>C (p.Cys681Ser)	LDLR (C681S +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 252179	NM_000527.5(LDLR):c.2032C>T (p.Gln678Ter)	LDLR (Q678* +2 more)	Single nucleotide variant (nonsense +1 more)	Hypercholesterolemia, familial, 1	GPathogenic
Select item 252171	NM_000527.5(LDLR):c.2015del (p.Leu672fs)	LDLR (L504fs +2 more)	Deletion (frameshift variant +1 more)	Hypercholesterolemia, familial, 1	GPathogenic
Select item 252058	NM_000527.5(LDLR):c.1833G>C (p.Leu611Phe)	LDLR (L611F +3 more)	Single nucleotide variant (missense variant)	Hypercholesterolemia, familial, 1	GPathogenic/Likely pathogenic
Select item 252035	NM_000527.5(LDLR):c.1796T>C (p.Leu599Ser)	LDLR (L599S +3 more)	Single nucleotide variant (missense variant)	Familial hypercholesterolemia +2 more	GConflicting classifications of pathogenicity
Select item 251909	NM_000527.5(LDLR):c.1586+5G>A	LDLR	Single nucleotide variant (intron variant)	Familial hypercholesterolemia +4 more	GConflicting classifications of pathogenicity
Select item 251847	NM_000527.5(LDLR):c.1447T>C (p.Trp483Arg)	LDLR (W483R +3 more)	Single nucleotide variant (missense variant)	Hypercholesterolemia, familial, 1	GUncertain significance FDA Recognized database
Select item 251838	NM_000527.5(LDLR):c.1429G>A (p.Asp477Asn)	LDLR (D477N +3 more)	Single nucleotide variant (missense variant)	Hypercholesterolemia, familial, 1 +3 more	GConflicting classifications of pathogenicity
Select item 251791	NM_000527.5(LDLR):c.1329G>A (p.Trp443Ter)	LDLR (W443* +3 more)	Single nucleotide variant (nonsense)	Hypercholesterolemia, familial, 1 +1 more	GPathogenic
Select item 251758	NM_000527.5(LDLR):c.1257C>G (p.Tyr419Ter)	LDLR (Y419* +3 more)	Single nucleotide variant (nonsense)	Cardiovascular phenotype +2 more	GPathogenic
Select item 251752	NM_000527.5(LDLR):c.1247G>A (p.Arg416Gln)	LDLR (R416Q +3 more)	Single nucleotide variant (missense variant)	Familial hypercholesterolemia +4 more	GPathogenic/Likely pathogenic
Select item 251747	NM_000527.5(LDLR):c.1241T>G (p.Leu414Arg)	LDLR (L414R +3 more)	Single nucleotide variant (missense variant)	Hypercholesterolemia, familial, 1	GUncertain significance FDA Recognized database
Select item 251740	NM_000527.5(LDLR):c.1223A>T (p.Glu408Val)	LDLR (E408V +3 more)	Single nucleotide variant (missense variant)	Hypercholesterolemia, familial, 1	GLikely pathogenic FDA Recognized database
Select item 251681	NM_000527.5(LDLR):c.1130G>A (p.Cys377Tyr)	LDLR (C377Y +3 more)	Single nucleotide variant (missense variant)	Hypercholesterolemia, familial, 1 +3 more	GPathogenic/Likely pathogenic
Select item 251657	NM_000527.5(LDLR):c.1090T>C (p.Cys364Arg)	LDLR (C364R +3 more)	Single nucleotide variant (missense variant)	Familial hypercholesterolemia +3 more	GPathogenic/Likely pathogenic
Select item 251622	NM_000527.5(LDLR):c.1056C>G (p.Cys352Trp)	LDLR (C352W +3 more)	Single nucleotide variant (missense variant)	Familial hypercholesterolemia +2 more	GPathogenic/Likely pathogenic
Select item 251601	NM_000527.5(LDLR):c.1020C>G (p.Cys340Trp)	LDLR (C340W +3 more)	Single nucleotide variant (missense variant)	Hypercholesterolemia, familial, 1	GPathogenic/Likely pathogenic
Select item 251594	NM_000527.5(LDLR):c.1012T>G (p.Cys338Gly)	LDLR (C338G +3 more)	Single nucleotide variant (missense variant)	Familial hypercholesterolemia +2 more	GPathogenic/Likely pathogenic
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 251539	NM_000527.5(LDLR):c.939C>A (p.Cys313Ter)	LDLR (C313* +3 more)	Single nucleotide variant (nonsense)	Familial hypercholesterolemia +2 more	GPathogenic
Select item 251488	NM_000527.5(LDLR):c.858C>A (p.Ser286Arg)	LDLR (S286R +3 more)	Single nucleotide variant (missense variant)	Hypercholesterolemia, familial, 1	GLikely pathogenic FDA Recognized database
Select item 251478	NM_000527.5(LDLR):c.825_826del (p.Cys276fs)	LDLR (C149fs +3 more)	Microsatellite (frameshift variant)	Cardiovascular phenotype +1 more	GPathogenic
Select item 251446	NM_000527.5(LDLR):c.769C>T (p.Arg257Trp)	LDLR (R257W +2 more)	Single nucleotide variant (missense variant +1 more)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 251396	NM_000527.5(LDLR):c.691T>C (p.Cys231Arg)	LDLR (C231R +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GPathogenic/Likely pathogenic
Select item 251353	NM_000527.5(LDLR):c.656_661del (p.Gly219_Pro220del)	LDLR	Deletion (inframe_deletion +1 more)	Hypercholesterolemia, familial, 1	GConflicting classifications of pathogenicity
Select item 251329	NM_000527.5(LDLR):c.622G>T (p.Glu208Ter)	LDLR (E208* +1 more)	Single nucleotide variant (nonsense +1 more)	Familial hypercholesterolemia +1 more	GPathogenic/Likely pathogenic
Select item 251325	NM_000527.5(LDLR):c.618T>G (p.Ser206Arg)	LDLR (S206R +1 more)	Single nucleotide variant (missense variant +1 more)	Hypercholesterolemia, familial, 1	GPathogenic/Likely pathogenic
Select item 251294	NM_000527.5(LDLR):c.550T>C (p.Cys184Arg)	LDLR (C184R +1 more)	Single nucleotide variant (missense variant +1 more)	Hypercholesterolemia, familial, 1 +1 more	GPathogenic/Likely pathogenic
Select item 251277	NM_000527.5(LDLR):c.519C>G (p.Cys173Trp)	LDLR (C173W +1 more)	Single nucleotide variant (missense variant +1 more)	Familial hypercholesterolemia +3 more	GPathogenic/Likely pathogenic
Select item 251268	NM_000527.5(LDLR):c.514G>T (p.Asp172Tyr)	LDLR (D172Y +1 more)	Single nucleotide variant (missense variant +1 more)	Familial hypercholesterolemia +1 more	GPathogenic/Likely pathogenic
Select item 251238	NM_000527.5(LDLR):c.463T>C (p.Cys155Arg)	LDLR (C155R +1 more)	Single nucleotide variant (missense variant +1 more)	Hypercholesterolemia, familial, 1 +1 more	GPathogenic/Likely pathogenic
Select item 251216	NM_000527.5(LDLR):c.420G>C (p.Glu140Asp)	LDLR (E140D +1 more)	Single nucleotide variant (missense variant +1 more)	Hypercholesterolemia, familial, 1 +4 more	GPathogenic/Likely pathogenic
Select item 251215	NM_000527.5(LDLR):c.419A>G (p.Glu140Gly)	LDLR (E140G +1 more)	Single nucleotide variant (missense variant +1 more)	Hypercholesterolemia, familial, 1	GPathogenic/Likely pathogenic
Select item 251105	NM_000527.5(LDLR):c.268G>A (p.Asp90Asn)	LDLR (D90N)	Single nucleotide variant (missense variant +1 more)	Hypercholesterolemia, familial, 1	GPathogenic FDA Recognized database
Select item 251046	NM_000527.5(LDLR):c.187T>C (p.Cys63Arg)	LDLR (C63R)	Single nucleotide variant (missense variant)	Hypercholesterolemia, familial, 1	GPathogenic/Likely pathogenic
Select item 250945	NC_000019.10:g.11089397C>T	LDLR-AS1, LDLR	Single nucleotide variant (non-coding transcript variant)	Cardiovascular phenotype +2 more	GPathogenic/Likely pathogenic
Select item 226394	NM_000527.5(LDLR):c.2397_2405del (p.Val800_Leu802del)	LDLR	Deletion (inframe_deletion)	Hypercholesterolemia, familial, 1 +4 more	GConflicting classifications of pathogenicity
Select item 226391	NM_000527.5(LDLR):c.2312-3C>A	LDLR	Single nucleotide variant (intron variant)	Cardiovascular phenotype +3 more	GPathogenic/Likely pathogenic
Select item 226378	NM_000527.5(LDLR):c.1885T>G (p.Phe629Val)	LDLR (F629V +3 more)	Single nucleotide variant (missense variant)	Hypercholesterolemia, familial, 1	GConflicting classifications of pathogenicity
Select item 226365	NM_000527.4(LDLR):c.1690A>C (p.Asn564His)	LDLR (N564H +3 more)	Single nucleotide variant (missense variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 226363	NM_000527.5(LDLR):c.1618G>A (p.Ala540Thr)	LDLR (A540T +3 more)	Single nucleotide variant (missense variant)	Hypercholesterolemia, familial, 1	GPathogenic FDA Recognized database
Select item 226356	NM_000527.5(LDLR):c.1448G>A (p.Trp483Ter)	LDLR (W483* +3 more)	Single nucleotide variant (nonsense)	Hypercholesterolemia, familial, 1 +3 more	GPathogenic
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 226349	NM_000527.5(LDLR):c.1187-10G>A	LDLR	Single nucleotide variant (intron variant)	Hypercholesterolemia, familial, 1 +4 more	GPathogenic/Likely pathogenic
Select item 226347	NM_000527.5(LDLR):c.1118_1121dup (p.Tyr375fs)	LDLR (Y207fs +3 more)	Duplication (frameshift variant)	Hypercholesterolemia, familial, 1 +4 more	GPathogenic/Likely pathogenic
Select item 226342	NM_000527.5(LDLR):c.1048C>T (p.Arg350Ter)	LDLR (R350* +3 more)	Single nucleotide variant (nonsense)	Hypercholesterolemia, familial, 1	GPathogenic FDA Recognized database
Select item 226337	NM_000527.5(LDLR):c.917C>T (p.Ser306Leu)	LDLR (S306L +3 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +3 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 226332	NM_000527.5(LDLR):c.664T>C (p.Cys222Arg)	LDLR (C222R +1 more)	Single nucleotide variant (missense variant +1 more)	Hypercholesterolemia, familial, 1	GLikely pathogenic FDA Recognized database
Select item 226331	NM_000527.5(LDLR):c.661G>A (p.Asp221Asn)	LDLR (D221N +1 more)	Single nucleotide variant (missense variant +1 more)	Hypercholesterolemia, familial, 1 +3 more	GPathogenic/Likely pathogenic
Select item 226330	NM_000527.5(LDLR):c.660del (p.Asp221fs)	LDLR (D180fs +1 more)	Deletion (frameshift variant +1 more)	Hypercholesterolemia, familial, 1 +3 more	GPathogenic
Select item 226329	NM_000527.5(LDLR):c.651TGG[1] (p.Gly219del)	LDLR (G219del +1 more)	Microsatellite (inframe_deletion +1 more)	Hypercholesterolemia, familial, 1	GPathogenic FDA Recognized database
Select item 226320	NM_000527.5(LDLR):c.337G>T (p.Glu113Ter)	LDLR (E113* +1 more)	Single nucleotide variant (nonsense +1 more)	Hypercholesterolemia, familial, 1 +3 more	GPathogenic/Likely pathogenic
Select item 226304	NM_000527.5(LDLR):c.81C>G (p.Cys27Trp)	LDLR (C27W)	Single nucleotide variant (missense variant)	Hypercholesterolemia, familial, 1	GPathogenic 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 226302	NM_000527.5(LDLR):c.-121T>C	LDLR, LDLR-AS1	Single nucleotide variant (non-coding transcript variant)	Hypercholesterolemia, familial, 1 +3 more	GConflicting classifications of pathogenicity
Select item 225097	NM_000527.5(LDLR):c.190+4A>T	LDLR	Single nucleotide variant (intron variant)	Hypercholesterolemia, familial, 1	GLikely pathogenic FDA Recognized database
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 200921	NM_000527.5(LDLR):c.1747C>T (p.His583Tyr)	LDLR (H583Y +3 more)	Single nucleotide variant (missense variant)	Hypercholesterolemia, familial, 1 +4 more	GPathogenic/Likely pathogenic
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 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 189296	NM_000527.5(LDLR):c.313+2T>C	LDLR	Single nucleotide variant (synonymous variant +2 more)	Hypercholesterolemia, familial, 1	GPathogenic FDA Recognized database
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 183120	NM_000527.5(LDLR):c.1576C>T (p.Pro526Ser)	LDLR (P526S +3 more)	Single nucleotide variant (missense variant)	Hypercholesterolemia, familial, 1	GUncertain significance FDA Recognized database
Select item 183110	NM_000527.5(LDLR):c.1246C>T (p.Arg416Trp)	LDLR (R416W +3 more)	Single nucleotide variant (missense variant)	Homozygous familial hypercholesterolemia +4 more	GPathogenic/Likely pathogenic

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