ClinVar (all) for Orgtrack (Select 506042) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 403665	NM_000527.5(LDLR):c.981C>A (p.His327Gln)	LDLR (H327Q +3 more)	Single nucleotide variant (missense variant)	Hypercholesterolemia, familial, 1	GUncertain significance FDA Recognized database
Select item 403664	NM_000527.5(LDLR):c.2059A>T (p.Ile687Phe)	LDLR (I687F +2 more)	Single nucleotide variant (missense variant +1 more)	Familial hypercholesterolemia +1 more	GUncertain significance
Select item 403663	NM_000527.5(LDLR):c.2320G>A (p.Asp774Asn)	LDLR (D774N +3 more)	Single nucleotide variant (missense variant)	Familial hypercholesterolemia +2 more	GConflicting classifications of pathogenicity
Select item 403662	NM_000527.5(LDLR):c.510C>A (p.Asp170Glu)	LDLR (D170E +1 more)	Single nucleotide variant (missense variant +1 more)	Hypercholesterolemia, familial, 1 +1 more	GConflicting classifications of pathogenicity
Select item 403661	NM_000527.4(LDLR):c.(2389+1_2390-1)_(*_?)del	LDLR	Deletion	Hypercholesterolemia, familial, 1	GPathogenic
Select item 403660	NM_000527.4(LDLR):c.(2311+1_2312-1)_(2547+1_2548-1)del	LDLR	Deletion	Hypercholesterolemia, familial, 1	GPathogenic
Select item 403659	NM_000527.4(LDLR):c.(1845+1_1846-1)_(*_?)del	LDLR	Deletion	Hypercholesterolemia, familial, 1	GPathogenic
Select item 403658	NM_000527.4(LDLR):c.(1845+1_1846-1)_(2140+1_2141-1)del	LDLR	Deletion	Hypercholesterolemia, familial, 1	GPathogenic
Select item 403657	NM_000527.4(LDLR):c.(1586+1_1587-1)_(2547+1_2548-1)del	LDLR	Deletion	Hypercholesterolemia, familial, 1	GPathogenic
Select item 403656	NM_000527.4(LDLR):c.(940+1_941-1)_(1845+1_1846-1)del	LDLR	Deletion	Hypercholesterolemia, familial, 1	GPathogenic
Select item 403655	NM_000527.4(LDLR):c.(940+1_941-1)_(1586+1_1587-1)del	LDLR	Deletion	Hypercholesterolemia, familial, 1	GPathogenic
Select item 403654	NM_000527.4(LDLR):c.(940+1_941-1)_(1186+1_1187-1)del	LDLR	Deletion	Hypercholesterolemia, familial, 1	GPathogenic
Select item 403653	NM_000527.4(LDLR):c.(313+1_314-1)_(940+1_941-1)del	LDLR	Deletion	Hypercholesterolemia, familial, 1	GPathogenic
Select item 403652	NM_000527.4(LDLR):c.(313+1_314-1)_(1586+1_1587-1)dup	LDLR	Duplication	Hypercholesterolemia, familial, 1	GPathogenic
Select item 403651	NM_000527.4(LDLR):c.(67+1_68-1)_(2311+1_2312-1)dup	LDLR	Duplication	Hypercholesterolemia, familial, 1	GPathogenic
Select item 403650	NM_000527.4(LDLR):c.(?_-1)_(1845+1_1846-1)dup	LDLR	Duplication	Hypercholesterolemia, familial, 1	GPathogenic
Select item 403649	NM_000527.4(LDLR):c.(?_-1)_(67+1_68-1)del	LDLR	Deletion	Hypercholesterolemia, familial, 1	GPathogenic
Select item 403648	NM_000527.5(LDLR):c.2407T>C (p.Cys803Arg)	LDLR (C803R +3 more)	Single nucleotide variant (missense variant)	Hypercholesterolemia, familial, 1	GLikely pathogenic
Select item 403647	NM_000527.5(LDLR):c.2253_2256dup (p.Pro753fs)	LDLR (P753fs +3 more)	Duplication (frameshift variant)	Hypercholesterolemia, familial, 1	GPathogenic
Select item 403646	NM_000527.5(LDLR):c.2180_2184dup (p.Leu729fs)	LDLR (L729fs +3 more)	Duplication (frameshift variant)	Familial hypercholesterolemia +2 more	GPathogenic
Select item 403645	NM_000527.4(LDLR):c.(67+1_68-1)_(1586+1_1587-1)del	LDLR	Deletion	Hypercholesterolemia, familial, 1	GPathogenic
Select item 403644	NM_000527.5(LDLR):c.2072C>T (p.Ser691Leu)	LDLR (S691L +2 more)	Single nucleotide variant (missense variant +1 more)	Familial hypercholesterolemia +1 more	GConflicting classifications of pathogenicity
Select item 403643	NM_000527.5(LDLR):c.1741A>T (p.Lys581Ter)	LDLR (K581* +3 more)	Single nucleotide variant (nonsense)	Hypercholesterolemia, familial, 1	GPathogenic
Select item 403642	NM_000527.5(LDLR):c.1632_1633del (p.Gly546fs)	LDLR (G419fs +3 more)	Deletion (frameshift variant)	Hypercholesterolemia, familial, 1	GPathogenic
Select item 403641	NM_000527.5(LDLR):c.1595A>G (p.Tyr532Cys)	LDLR (Y532C +3 more)	Single nucleotide variant (missense variant)	Familial hypercholesterolemia +1 more	GUncertain significance
Select item 403640	NM_000527.5(LDLR):c.1358+5G>T	LDLR	Single nucleotide variant (intron variant)	Hypercholesterolemia, familial, 1	GPathogenic
Select item 403639	NM_000527.5(LDLR):c.1187-10_1272dup	LDLR	Duplication (splice acceptor variant)	Hypercholesterolemia, familial, 1	GLikely pathogenic
Select item 403638	NM_000527.5(LDLR):c.1204_1205del (p.Phe402fs)	LDLR (F234fs +3 more)	Deletion (frameshift variant)	Hypercholesterolemia, familial, 1	GPathogenic
Select item 403637	NM_000527.5(LDLR):c.1184_1185del (p.Val395fs)	LDLR (V395fs +3 more)	Microsatellite (frameshift variant)	Hypercholesterolemia, familial, 1	GPathogenic
Select item 403636	NM_000527.5(LDLR):c.1177A>C (p.Lys393Gln)	LDLR (K393Q +3 more)	Single nucleotide variant (missense variant)	Hypercholesterolemia, familial, 1	GLikely pathogenic
Select item 403635	NM_000527.5(LDLR):c.1112T>C (p.Leu371Pro)	LDLR (L371P +3 more)	Single nucleotide variant (missense variant)	Hypercholesterolemia, familial, 1 +1 more	GUncertain significance
Select item 403634	NM_000527.5(LDLR):c.1065C>G (p.Ile355Met)	LDLR (I355M +3 more)	Single nucleotide variant (missense variant)	Familial hypercholesterolemia +1 more	GUncertain significance
Select item 403633	NM_000527.5(LDLR):c.683_694del (p.Glu228_Cys231del)	LDLR	Deletion (inframe_deletion +1 more)	Cardiovascular phenotype +2 more	GPathogenic/Likely pathogenic
Select item 403632	NM_000527.5(LDLR):c.681C>A (p.Asp227Glu)	LDLR (D227E +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GPathogenic/Likely pathogenic
Select item 403631	NM_000527.5(LDLR):c.529T>C (p.Ser177Pro)	LDLR (S177P +1 more)	Single nucleotide variant (missense variant +1 more)	Hypercholesterolemia, familial, 1	GLikely pathogenic
Select item 403630	NM_000527.5(LDLR):c.383G>C (p.Cys128Ser)	LDLR (C128S +1 more)	Single nucleotide variant (missense variant +1 more)	Hypercholesterolemia, familial, 1	GLikely pathogenic
Select item 403629	NM_000527.5(LDLR):c.300C>A (p.Asp100Glu)	LDLR (D100E)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 403628	NM_000527.4(LDLR):c.-140C>A	LDLR, LDLR-AS1	Single nucleotide variant (non-coding transcript 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)	Familial hypercholesterolemia +1 more	GPathogenic
Select item 369852	NM_000527.5(LDLR):c.1091G>A (p.Cys364Tyr)	LDLR (C364Y +3 more)	Single nucleotide variant (missense variant)	Familial hypercholesterolemia +1 more	GPathogenic/Likely pathogenic
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 252320	NM_000527.5(LDLR):c.2396T>G (p.Leu799Arg)	LDLR (L799R +3 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GLikely pathogenic
Select item 252316	NM_000527.5(LDLR):c.2390-1G>A	LDLR	Single nucleotide variant (splice acceptor variant)	Familial hypercholesterolemia +1 more	GPathogenic
Select item 252306	NM_000527.5(LDLR):c.2389+5G>A	LDLR	Single nucleotide variant (intron variant)	Hypercholesterolemia, familial, 1	GUncertain significance FDA Recognized database
Select item 252276	NM_000527.5(LDLR):c.2311+1941_*1216dup	LDLR	Duplication (splice acceptor variant +1 more)	Hypercholesterolemia, familial, 1	GConflicting classifications of pathogenicity
Select item 252237	NM_000527.5(LDLR):c.2140+2T>C	LDLR	Single nucleotide variant (splice donor variant +1 more)	Hypercholesterolemia, familial, 1	GPathogenic/Likely pathogenic
Select item 252229	NM_000527.5(LDLR):c.2132G>A (p.Cys711Tyr)	LDLR (C711Y +2 more)	Single nucleotide variant (missense variant +1 more)	Hypercholesterolemia, familial, 1	GLikely pathogenic
Select item 252219	NM_000527.5(LDLR):c.2096C>T (p.Pro699Leu)	LDLR (P699L +2 more)	Single nucleotide variant (missense variant +1 more)	Hypercholesterolemia, familial, 1	GUncertain significance FDA Recognized database
Select item 252216	NM_000527.5(LDLR):c.2093G>T (p.Cys698Phe)	LDLR (C698F +2 more)	Single nucleotide variant (missense variant +1 more)	Familial hypercholesterolemia +1 more	GPathogenic/Likely pathogenic
Select item 252215	NM_000527.5(LDLR):c.2093G>A (p.Cys698Tyr)	LDLR (C698Y +2 more)	Single nucleotide variant (missense variant +1 more)	Familial hypercholesterolemia +1 more	GPathogenic/Likely pathogenic
Select item 252206	NM_000527.5(LDLR):c.2072C>A (p.Ser691Ter)	LDLR (S691* +2 more)	Single nucleotide variant (nonsense +1 more)	Cardiovascular phenotype +1 more	GPathogenic
Select item 252205	NM_000527.5(LDLR):c.2068del (p.His690fs)	LDLR (H522fs +2 more)	Deletion (frameshift variant +1 more)	Cardiovascular phenotype +1 more	GPathogenic
Select item 252173	NM_000527.5(LDLR):c.2023G>A (p.Gly675Ser)	LDLR (G675S +2 more)	Single nucleotide variant (missense variant +1 more)	Hypercholesterolemia, familial, 1 +2 more	GConflicting classifications of pathogenicity
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 252161	NM_000527.5(LDLR):c.1998G>A (p.Trp666Ter)	LDLR (W666* +2 more)	Single nucleotide variant (nonsense +1 more)	Cardiovascular phenotype +2 more	GPathogenic
Select item 252094	NM_000527.5(LDLR):c.1865A>G (p.Asp622Gly)	LDLR (D622G +3 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GConflicting classifications of pathogenicity
Select item 252092	NM_000527.5(LDLR):c.1864G>A (p.Asp622Asn)	LDLR (D622N +3 more)	Single nucleotide variant (missense variant)	Familial hypercholesterolemia +1 more	GPathogenic/Likely pathogenic
Select item 252090	NM_000527.5(LDLR):c.1860G>C (p.Trp620Cys)	LDLR (W620C +3 more)	Single nucleotide variant (missense variant)	Hypercholesterolemia, familial, 1	GLikely pathogenic
Select item 252079	NM_000527.5(LDLR):c.1846-1G>A	LDLR	Single nucleotide variant (splice acceptor variant)	Familial hypercholesterolemia +4 more	GPathogenic/Likely pathogenic
Select item 252069	NM_000527.5(LDLR):c.1845+1G>T	LDLR	Single nucleotide variant (splice donor variant)	Hypercholesterolemia, familial, 1	GPathogenic/Likely pathogenic
Select item 252067	NM_000527.5(LDLR):c.1845+1G>A	LDLR	Single nucleotide variant (splice donor variant)	Familial hypercholesterolemia +2 more	GPathogenic/Likely pathogenic
Select item 252054	NM_000527.5(LDLR):c.1829C>G (p.Ser610Cys)	LDLR (S610C +3 more)	Single nucleotide variant (missense variant)	Hypercholesterolemia, familial, 1	GLikely pathogenic
Select item 252049	NM_000527.5(LDLR):c.1822C>T (p.Pro608Ser)	LDLR (P608S +3 more)	Single nucleotide variant (missense variant)	Familial hypercholesterolemia +1 more	GPathogenic/Likely pathogenic
Select item 252046	NM_000527.5(LDLR):c.1816G>A (p.Ala606Thr)	LDLR (A606T +3 more)	Single nucleotide variant (missense variant)	Hypercholesterolemia, familial, 1	GUncertain significance FDA Recognized database
Select item 252016	NM_000527.5(LDLR):c.1752del (p.Ile585fs)	LDLR (I458fs +3 more)	Deletion (frameshift variant)	Hypercholesterolemia, familial, 1	GPathogenic
Select item 252012	NM_000527.5(LDLR):c.1748A>G (p.His583Arg)	LDLR (H583R +3 more)	Single nucleotide variant (missense variant)	Hypercholesterolemia, familial, 1	GLikely pathogenic
Select item 252000	NM_000527.5(LDLR):c.1729T>G (p.Trp577Gly)	LDLR (W577G +3 more)	Single nucleotide variant (missense variant)	Hypercholesterolemia, familial, 1	GPathogenic FDA Recognized database
Select item 251994	NM_000527.5(LDLR):c.1715G>A (p.Ser572Asn)	LDLR (S572N +3 more)	Single nucleotide variant (missense variant)	Hypercholesterolemia, familial, 1	GLikely benign
Select item 251964	NM_000527.5(LDLR):c.1672G>T (p.Glu558Ter)	LDLR (E558* +3 more)	Single nucleotide variant (nonsense)	Hypercholesterolemia, familial, 1	GPathogenic
Select item 251961	NM_000527.5(LDLR):c.1662_1669dup (p.Thr557delinsSerTrpTer)	LDLR	Duplication (nonsense)	Hypercholesterolemia, familial, 1	GPathogenic
Select item 251942	NM_000527.5(LDLR):c.1633G>A (p.Gly545Arg)	LDLR (G545R +3 more)	Single nucleotide variant (missense variant)	Familial hypercholesterolemia +2 more	GPathogenic/Likely pathogenic
Select item 251894	NM_000527.5(LDLR):c.1552A>G (p.Lys518Glu)	LDLR (K518E +3 more)	Single nucleotide variant (missense variant)	Hypercholesterolemia, familial, 1	GUncertain significance FDA Recognized database
Select item 251890	NM_000527.5(LDLR):c.1538G>A (p.Arg513Lys)	LDLR (R513K +3 more)	Single nucleotide variant (missense variant)	Familial hypercholesterolemia +1 more	GConflicting classifications of pathogenicity
Select item 251889	NM_000527.5(LDLR):c.1533dup (p.Phe512fs)	LDLR (F471fs +3 more)	Duplication (frameshift variant)	Hypercholesterolemia, familial, 1	GPathogenic
Select item 251886	NM_000527.5(LDLR):c.1529C>T (p.Thr510Met)	LDLR (T510M +3 more)	Single nucleotide variant (missense variant)	Hypercholesterolemia, familial, 1 +3 more	GConflicting classifications of pathogenicity
Select item 251878	NM_000527.5(LDLR):c.1510A>T (p.Lys504Ter)	LDLR (K504* +3 more)	Single nucleotide variant (nonsense)	Hypercholesterolemia, familial, 1	GPathogenic
Select item 251826	NM_000527.5(LDLR):c.1394A>G (p.Tyr465Cys)	LDLR (Y465C +3 more)	Single nucleotide variant (missense variant)	Familial hypercholesterolemia +1 more	GConflicting classifications of pathogenicity
Select item 251820	NM_000527.5(LDLR):c.1377_1380del (p.His460fs)	LDLR (H292fs +3 more)	Deletion (frameshift variant)	Hypercholesterolemia, familial, 1	GPathogenic
Select item 251816	NM_000527.5(LDLR):c.1367_1376del (p.Leu456fs)	LDLR (L288fs +3 more)	Deletion (frameshift variant)	Hypercholesterolemia, familial, 1	GPathogenic
Select item 251753	NM_000527.5(LDLR):c.1247G>C (p.Arg416Pro)	LDLR (R416P +3 more)	Single nucleotide variant (missense variant)	Hypercholesterolemia, familial, 1	GLikely pathogenic
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 251731	NM_000527.5(LDLR):c.1204TTC[1] (p.Phe403del)	LDLR (F403del +3 more)	Microsatellite (inframe_deletion)	Hypercholesterolemia, familial, 1	GConflicting classifications of pathogenicity
Select item 251712	NM_000527.4(LDLR):c.1187-169_2312-790del	LDLR, MIR6886	Deletion	Hypercholesterolemia, familial, 1	GPathogenic
Select item 251711	NM_000527.4(LDLR):c.1186+700_2141-545del	LDLR, MIR6886	Deletion	Hypercholesterolemia, familial, 1	GPathogenic
Select item 251689	NM_000527.5(LDLR):c.1151_1159del (p.Gln384_Asp386del)	LDLR	Deletion (inframe_deletion)	Hypercholesterolemia, familial, 1	GLikely pathogenic
Select item 251672	NM_000527.5(LDLR):c.1117G>T (p.Gly373Cys)	LDLR (G373C +3 more)	Single nucleotide variant (missense variant)	Hypercholesterolemia, familial, 1	GLikely pathogenic
Select item 251658	NM_000527.5(LDLR):c.1091G>C (p.Cys364Ser)	LDLR (C364S +3 more)	Single nucleotide variant (missense variant)	Hypercholesterolemia, familial, 1	GLikely pathogenic
Select item 251655	NM_000527.5(LDLR):c.1085del (p.Asp362fs)	LDLR (D194fs +3 more)	Deletion (frameshift variant)	Hypercholesterolemia, familial, 1	GPathogenic
Select item 251644	NM_000527.5(LDLR):c.1066G>C (p.Asp356His)	LDLR (D356H +3 more)	Single nucleotide variant (missense variant)	Hypercholesterolemia, familial, 1	GConflicting classifications of pathogenicity
Select item 251639	NM_000527.5(LDLR):c.1061A>G (p.Asp354Gly)	LDLR (D354G +3 more)	Single nucleotide variant (missense variant)	Homozygous familial hypercholesterolemia +4 more	GConflicting classifications of pathogenicity
Select item 251638	NM_000527.5(LDLR):c.1061A>C (p.Asp354Ala)	LDLR (D354A +3 more)	Single nucleotide variant (missense variant)	Hypercholesterolemia, familial, 1	GLikely pathogenic
Select item 251615	NM_000527.5(LDLR):c.1053_1060dup (p.Ile355fs)	LDLR (I228fs +3 more)	Duplication (frameshift variant)	Hypercholesterolemia, familial, 1	GPathogenic
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 251600	NM_000527.5(LDLR):c.1019G>A (p.Cys340Tyr)	LDLR (C340Y +3 more)	Single nucleotide variant (missense variant)	Familial hypercholesterolemia +3 more	GConflicting classifications of pathogenicity
Select item 251595	NM_000527.5(LDLR):c.1013G>A (p.Cys338Tyr)	LDLR (C338Y +3 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +3 more	GPathogenic/Likely pathogenic
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 251579	NM_000527.5(LDLR):c.971del (p.Gly324fs)	LDLR (G156fs +3 more)	Deletion (frameshift variant)	Hypercholesterolemia, familial, 1	GPathogenic
Select item 251572	NM_000527.5(LDLR):c.953G>T (p.Cys318Phe)	LDLR (C318F +3 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 more	GPathogenic/Likely pathogenic
Select item 251568	NM_000527.5(LDLR):c.949G>T (p.Glu317Ter)	LDLR (E317* +3 more)	Single nucleotide variant (nonsense)	Hypercholesterolemia, familial, 1	GPathogenic
Select item 251566	NM_000527.5(LDLR):c.947A>C (p.Asn316Thr)	LDLR (N316T +3 more)	Single nucleotide variant (missense variant)	Hypercholesterolemia, familial, 1	GConflicting classifications of pathogenicity

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