C0745103[trait identifier] AND "Iberoamerican FH Network"[submitter] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 235043	NM_174936.4(PCSK9):c.45GCT[8] (p.Leu23dup)	PCSK9	Microsatellite (inframe_insertion)	Cardiovascular phenotype +5 more	GBenign/Likely benign
Select item 496566	NM_174936.4(PCSK9):c.85del (p.Arg29fs)	PCSK9 (R29fs)	Deletion (frameshift variant)	Hypercholesterolemia, familial, 1 +1 more	GConflicting classifications of pathogenicity
Select item 262902	NM_174936.4(PCSK9):c.141C>T (p.Ser47=)	PCSK9	Single nucleotide variant (synonymous variant)	Hypercholesterolemia, familial, 1 +6 more	GConflicting classifications of pathogenicity
Select item 262904	NM_174936.4(PCSK9):c.207+15A>G	PCSK9	Single nucleotide variant (intron variant)	Hypercholesterolemia, familial, 1 +5 more	GBenign
Select item 36672	NM_174936.4(PCSK9):c.658-7C>T	PCSK9	Single nucleotide variant (intron variant)	Hypercholesterolemia, familial, 1 +5 more	GBenign
Select item 242028	NM_174936.4(PCSK9):c.720C>T (p.Gly240=)	PCSK9	Single nucleotide variant (synonymous variant +1 more)	Cardiovascular phenotype +6 more	GConflicting classifications of pathogenicity
Select item 262908	NM_174936.4(PCSK9):c.799+3A>G	PCSK9	Single nucleotide variant (intron variant)	not specified +6 more	GBenign
Select item 201126	NM_174936.4(PCSK9):c.1380A>G (p.Val460=)	PCSK9	Single nucleotide variant (synonymous variant +2 more)	Familial hypercholesterolemia +6 more	GBenign
Select item 523737	NM_174936.4(PCSK9):c.1432G>A (p.Ala478Thr)	PCSK9 (A478T +6 more)	Single nucleotide variant (missense variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 523716	NM_174936.4(PCSK9):c.1480A>G (p.Lys494Glu)	PCSK9 (K494E +6 more)	Single nucleotide variant (missense variant)	Hypercholesterolemia, familial, 1	GUncertain significance
Select item 523717	NM_174936.4(PCSK9):c.1850C>A (p.Ala617Asp)	PCSK9 (A617D +8 more)	Single nucleotide variant (missense variant)	Hypercholesterolemia, familial, 1 +3 more	GUncertain significance
Select item 36670	NM_174936.4(PCSK9):c.2009G>A (p.Gly670Glu)	PCSK9 (G670E +8 more)	Single nucleotide variant (missense variant)	Hypercholesterolemia, familial, 1 +6 more	GBenign/Likely benign
Select item 334098	NM_000384.3(APOB):c.11466G>A (p.Val3822=)	APOB	Single nucleotide variant (synonymous variant)	Familial hypobetalipoproteinemia +4 more	GConflicting classifications of pathogenicity
Select item 237734	NM_000384.3(APOB):c.11401T>A (p.Ser3801Thr)	APOB (S3801T)	Single nucleotide variant (missense variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 334101	NM_000384.3(APOB):c.11354C>T (p.Thr3785Ile)	APOB (T3785I)	Single nucleotide variant (missense variant)	Hypercholesterolemia, autosomal dominant, type B +4 more	GConflicting classifications of pathogenicity
Select item 265892	NM_000384.3(APOB):c.10679A>G (p.Tyr3560Cys)	APOB (Y3560C)	Single nucleotide variant (missense variant)	Familial hypobetalipoproteinemia 1 +4 more	GConflicting classifications of pathogenicity
Select item 17890	NM_000384.3(APOB):c.10580G>A (p.Arg3527Gln)	APOB (R3527Q)	Single nucleotide variant (missense variant)	Hypercholesterolemia, familial, 1 +9 more	GPathogenic/Likely pathogenic
Select item 523738	NM_000384.3(APOB):c.10262T>C (p.Met3421Thr)	APOB (M3421T)	Single nucleotide variant (missense variant)	Familial hypobetalipoproteinemia 1 +2 more	GUncertain significance
Select item 523719	NM_000384.3(APOB):c.10163C>T (p.Thr3388Ile)	APOB (T3388I)	Single nucleotide variant (missense variant)	Hypercholesterolemia, familial, 1	GUncertain significance
Select item 523728	NM_000384.3(APOB):c.6979G>A (p.Asp2327Asn)	APOB (D2327N)	Single nucleotide variant (missense variant)	Hypercholesterolemia, familial, 1	GUncertain significance
Select item 180280	NM_000384.3(APOB):c.6636TGA[1] (p.Asp2213del)	APOB (D2213del)	Microsatellite (inframe_deletion)	not specified +6 more	GConflicting classifications of pathogenicity
Select item 265887	NM_000384.3(APOB):c.5599C>T (p.Arg1867Trp)	APOB (R1867W)	Single nucleotide variant (missense variant)	Hypercholesterolemia, familial, 1 +5 more	GConflicting classifications of pathogenicity
Select item 218443	NM_000384.3(APOB):c.3337G>C (p.Asp1113His)	APOB (D1113H)	Single nucleotide variant (missense variant)	not specified +6 more	GConflicting classifications of pathogenicity
Select item 523731	NM_000384.3(APOB):c.2184T>C (p.Asp728=)	APOB	Single nucleotide variant (synonymous variant)	Hypercholesterolemia, familial, 1 +1 more	GConflicting classifications of pathogenicity
Select item 265881	NM_000384.3(APOB):c.1470+15T>C	APOB	Single nucleotide variant (intron variant)	not specified +5 more	GConflicting classifications of pathogenicity
Select item 523730	NM_000384.3(APOB):c.1266A>G (p.Ser422=)	APOB	Single nucleotide variant (synonymous variant)	Hypercholesterolemia, familial, 1 +3 more	GConflicting classifications of pathogenicity
Select item 523718	NM_000384.3(APOB):c.814_816del (p.Tyr272del)	APOB (Y272del)	Deletion (inframe_deletion)	Hypercholesterolemia, familial, 1	GUncertain significance
Select item 523732	NC_000019.10:g.11089322G>C	LDLR, LDLR-AS1	Single nucleotide variant (non-coding transcript variant)	Hypercholesterolemia, familial, 1	GUncertain significance
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 523720	NM_000527.4(LDLR):c.-135C>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 250973	NM_000527.5(LDLR):c.11G>A (p.Trp4Ter)	LDLR, LDLR-AS1 (W4*)	Single nucleotide variant (non-coding transcript variant +1 more)	Cardiovascular phenotype +3 more	GPathogenic
Select item 237860	NM_000527.5(LDLR):c.12G>A (p.Trp4Ter)	LDLR, LDLR-AS1 (W4*)	Single nucleotide variant (non-coding transcript variant +1 more)	Hypercholesterolemia, familial, 1 +1 more	GPathogenic
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 523722	NM_000527.5(LDLR):c.170A>C (p.Asp57Ala)	LDLR (D57A)	Single nucleotide variant (missense variant)	Hypercholesterolemia, familial, 1	GUncertain significance FDA Recognized database
Select item 183083	NM_000527.5(LDLR):c.241C>T (p.Arg81Cys)	LDLR (R81C)	Single nucleotide variant (missense variant +1 more)	Hypercholesterolemia, familial, 1	GLikely pathogenic FDA Recognized database
Select item 251108	NM_000527.5(LDLR):c.274C>G (p.Gln92Glu)	LDLR (Q92E)	Single nucleotide variant (missense variant +1 more)	Hypercholesterolemia, familial, 1	GConflicting classifications of pathogenicity
Select item 251113	NM_000527.5(LDLR):c.284G>A (p.Cys95Tyr)	LDLR (C95Y)	Single nucleotide variant (missense variant +1 more)	Familial hypercholesterolemia +1 more	GConflicting classifications of pathogenicity
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 251130	NM_000527.5(LDLR):c.311G>T (p.Cys104Phe)	LDLR (C104F)	Single nucleotide variant (missense variant +1 more)	Hypercholesterolemia, familial, 1	GLikely pathogenic FDA Recognized database
Select item 228358	NM_000527.5(LDLR):c.313+1G>C	LDLR (R191P)	Single nucleotide variant (missense variant +2 more)	LDLR-related disorder +5 more	GConflicting classifications of pathogenicity
Select item 226317	NM_000527.5(LDLR):c.313+2dup	LDLR	Duplication (splice donor variant +1 more)	Hypercholesterolemia, familial, 1 +2 more	GPathogenic/Likely pathogenic
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 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 251161	NM_000527.5(LDLR):c.339dup (p.Phe114fs)	LDLR (F73fs +1 more)	Duplication (frameshift variant +1 more)	Hypercholesterolemia, familial, 1	GPathogenic
Select item 251204	NM_000527.5(LDLR):c.401G>T (p.Cys134Phe)	LDLR (C134F +1 more)	Single nucleotide variant (missense variant +1 more)	Hypercholesterolemia, familial, 1 +2 more	GPathogenic/Likely pathogenic
Select item 251214	NM_000527.5(LDLR):c.418G>T (p.Glu140Ter)	LDLR (E140* +1 more)	Single nucleotide variant (nonsense +1 more)	Hypercholesterolemia, familial, 1	GPathogenic
Select item 251213	NM_000527.5(LDLR):c.418G>A (p.Glu140Lys)	LDLR (E140K +1 more)	Single nucleotide variant (missense variant +1 more)	Hypercholesterolemia, familial, 1	GPathogenic FDA Recognized database
Select item 523723	NM_000527.5(LDLR):c.428G>T (p.Cys143Phe)	LDLR (C143F +1 more)	Single nucleotide variant (missense variant +1 more)	Hypercholesterolemia, familial, 1 +1 more	GLikely pathogenic
Select item 251273	NM_000527.5(LDLR):c.517T>G (p.Cys173Gly)	LDLR (C173G +1 more)	Single nucleotide variant (missense variant +1 more)	Hypercholesterolemia, familial, 1	GLikely pathogenic
Select item 251282	NM_000527.5(LDLR):c.532_533insT (p.Asp178fs)	LDLR (D137fs +1 more)	Insertion (frameshift variant +1 more)	Hypercholesterolemia, familial, 1	GPathogenic
Select item 251289	NM_000527.5(LDLR):c.535G>T (p.Glu179Ter)	LDLR (E179* +1 more)	Single nucleotide variant (nonsense +1 more)	not provided +1 more	GPathogenic
Select item 251305	NM_000527.5(LDLR):c.581_582insA (p.Ser194fs)	LDLR (S194fs +1 more)	Insertion (frameshift variant +1 more)	Hypercholesterolemia, familial, 1	GPathogenic
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 251317	NM_000527.5(LDLR):c.601G>A (p.Glu201Lys)	LDLR (E201K +1 more)	Single nucleotide variant (intron variant +1 more)	Hypercholesterolemia, familial, 1 +1 more	GLikely pathogenic
Select item 3747	NM_000527.5(LDLR):c.621C>T (p.Gly207=)	LDLR	Single nucleotide variant (synonymous variant +1 more)	Hypercholesterolemia, familial, 1 +3 more	GPathogenic/Likely pathogenic
Select item 251342	NM_000527.5(LDLR):c.643C>A (p.Arg215Ser)	LDLR (R215S +1 more)	Single nucleotide variant (missense variant +1 more)	Hypercholesterolemia, familial, 1	GLikely pathogenic
Select item 251345	NM_000527.5(LDLR):c.646T>C (p.Cys216Arg)	LDLR (C216R +1 more)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype +1 more	GLikely pathogenic
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 183092	NM_000527.5(LDLR):c.662A>G (p.Asp221Gly)	LDLR (D221G +1 more)	Single nucleotide variant (missense variant +1 more)	Hypercholesterolemia, familial, 1	GPathogenic FDA Recognized database
Select item 251365	NM_000527.5(LDLR):c.666C>G (p.Cys222Trp)	LDLR (C222W +1 more)	Single nucleotide variant (missense variant +1 more)	Hypercholesterolemia, familial, 1	GLikely pathogenic
Select item 3690	NM_000527.5(LDLR):c.681C>G (p.Asp227Glu)	LDLR (D227E +1 more)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype +3 more	GPathogenic/Likely pathogenic
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 523724	NM_000527.5(LDLR):c.684G>C (p.Glu228Asp)	LDLR (E228D +1 more)	Single nucleotide variant (missense variant +1 more)	Hypercholesterolemia, familial, 1 +1 more	GPathogenic/Likely pathogenic
Select item 251395	NM_000527.5(LDLR):c.690C>T (p.Asn230=)	LDLR	Single nucleotide variant (synonymous variant +1 more)	Familial hypercholesterolemia +1 more	GConflicting classifications of pathogenicity
Select item 251415	NM_000527.5(LDLR):c.695-1G>T	LDLR	Single nucleotide variant (splice acceptor variant +1 more)	Hypercholesterolemia, familial, 1 +1 more	GPathogenic/Likely pathogenic
Select item 251425	NM_000527.5(LDLR):c.727T>C (p.Cys243Arg)	LDLR (C243R +2 more)	Single nucleotide variant (missense variant +1 more)	Hypercholesterolemia, familial, 1	GLikely pathogenic 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 251478	NM_000527.5(LDLR):c.825_826del (p.Cys276fs)	LDLR (C149fs +3 more)	Microsatellite (frameshift variant)	Cardiovascular phenotype +1 more	GPathogenic
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 183098	NM_000527.5(LDLR):c.846C>A (p.Phe282Leu)	LDLR (F282L +3 more)	Single nucleotide variant (missense variant)	Hypercholesterolemia, familial, 1	GLikely pathogenic FDA Recognized database
Select item 161268	NM_000527.5(LDLR):c.862G>A (p.Glu288Lys)	LDLR (E288K +3 more)	Single nucleotide variant (missense variant)	Hypercholesterolemia, familial, 1	GPathogenic FDA Recognized database
Select item 251492	NM_000527.5(LDLR):c.865T>C (p.Cys289Arg)	LDLR (C289R +3 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GConflicting classifications of pathogenicity
Select item 251502	NM_000527.5(LDLR):c.887G>A (p.Cys296Tyr)	LDLR (C296Y +3 more)	Single nucleotide variant (missense variant)	Hypercholesterolemia, familial, 1 +2 more	GConflicting classifications of pathogenicity
Select item 523725	NM_000527.5(LDLR):c.920A>G (p.Asp307Gly)	LDLR (D307G +3 more)	Single nucleotide variant (missense variant)	Familial hypercholesterolemia +2 more	GPathogenic/Likely pathogenic
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 251548	NM_000527.5(LDLR):c.941-39C>T	LDLR	Single nucleotide variant (intron variant)	Hypercholesterolemia, familial, 1	GBenign FDA Recognized database
Select item 251552	NM_000527.5(LDLR):c.941-12G>A	LDLR	Single nucleotide variant (intron variant)	Hypercholesterolemia, familial, 1	GLikely pathogenic FDA Recognized database
Select item 251571	NM_000527.5(LDLR):c.953G>A (p.Cys318Tyr)	LDLR (C318Y +3 more)	Single nucleotide variant (missense variant)	Hypercholesterolemia, familial, 1 +1 more	GLikely pathogenic
Select item 523733	NM_000527.5(LDLR):c.954C>A (p.Cys318Ter)	LDLR (C318* +3 more)	Single nucleotide variant (nonsense)	Hypercholesterolemia, familial, 1	GPathogenic
Select item 161263	NM_000527.5(LDLR):c.970G>A (p.Gly324Ser)	LDLR (G324S +3 more)	Single nucleotide variant (missense variant)	Hypercholesterolemia, familial, 1	GBenign 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 251584	NM_000527.5(LDLR):c.980dup (p.His327fs)	LDLR (H159fs +3 more)	Duplication (frameshift variant)	Hypercholesterolemia, familial, 1	GPathogenic
Select item 183105	NM_000527.5(LDLR):c.1003G>A (p.Gly335Ser)	LDLR (G335S +3 more)	Single nucleotide variant (missense variant)	Hypercholesterolemia, familial, 1	GLikely pathogenic 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 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 251608	NM_000527.5(LDLR):c.1034dup (p.Leu346fs)	LDLR (L178fs +3 more)	Duplication (frameshift variant)	Hypercholesterolemia, familial, 1	GPathogenic
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 251649	NM_000527.5(LDLR):c.1069G>A (p.Glu357Lys)	LDLR (E357K +3 more)	Single nucleotide variant (missense variant)	Hypercholesterolemia, familial, 1	GLikely pathogenic FDA Recognized database
Select item 523715	NM_000527.5(LDLR):c.1078G>C (p.Asp360His)	LDLR (D360H +3 more)	Single nucleotide variant (missense variant)	Hypercholesterolemia, familial, 1 +3 more	GConflicting classifications of pathogenicity
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 251665	NM_000527.5(LDLR):c.1103G>A (p.Cys368Tyr)	LDLR (C368Y +3 more)	Single nucleotide variant (missense variant)	Hypercholesterolemia, familial, 1 +3 more	GPathogenic/Likely pathogenic
Select item 251673	NM_000527.5(LDLR):c.1118G>A (p.Gly373Asp)	LDLR (G373D +3 more)	Single nucleotide variant (missense variant)	not provided +3 more	GPathogenic/Likely pathogenic
Select item 251706	NM_000527.5(LDLR):c.1186+5G>A	LDLR	Single nucleotide variant (intron variant)	Hypercholesterolemia, familial, 1	GLikely pathogenic FDA Recognized database
Select item 161267	NM_000527.5(LDLR):c.1201C>G (p.Leu401Val)	LDLR (L401V +3 more)	Single nucleotide variant (missense variant)	Hypercholesterolemia, familial, 1 +3 more	GPathogenic/Likely pathogenic
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 225182	NM_000527.5(LDLR):c.1252G>A (p.Glu418Lys)	LDLR (E418K +3 more)	Single nucleotide variant (missense variant)	Hypercholesterolemia, familial, 1 +1 more	GPathogenic/Likely pathogenic
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 3695	NM_000527.5(LDLR):c.1291G>A (p.Ala431Thr)	LDLR (A431T +3 more)	Single nucleotide variant (missense variant)	Hypercholesterolemia, familial, 1	GPathogenic FDA Recognized database
Select item 251778	NM_000527.5(LDLR):c.1307T>C (p.Val436Ala)	LDLR (V436A +3 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +3 more	GPathogenic/Likely pathogenic

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