255738[geneid] - ClinVar - NCBI

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VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 580791.	GRCh38/hg38 1p32.3-31.1(chr1:52595352-76767765)x3 GRCh37: Chr1:53061024-77233450 GRCh38: Chr1:52595352-76767765	ACADM, ACOT11, AK4, ALG6, ANGPTL3, ANKRD13C, ASB17, ATG4C, BSND, C1orf141, C1orf87, C8A, C8B, CACHD1, CDCP2, COA7, CPT2, CRYZ, CTH, CYB5RL, CYP2J2, CZIB, DAB1, DAB1-AS1, DEPDC1, DEPDC1-AS1, DHCR24, DIO1, DIRAS3, DLEU2L, DMRTB1, DNAI4, DNAJC6, DOCK7, DYNLT5, ECHDC2, EFCAB7, ERICH3, ERICH3-AS1, FAM151A, FGGY, FOXD3, FOXD3-AS1, FPGT, FPGT-TNNI3K, FYB2, GADD45A, GLIS1, GNG12, GNG12-AS1, GPX7, HHLA3, HHLA3-AS1, HOOK1, HSD52, IFT25, IL12RB2, IL23R, INSL5, ITGB3BP, JAK1, JUN, KANK4, L1TD1, LDLRAD1, LEPR, LEPROT, LEXM, LHX8, LINC00466, LINC01135, LINC01358, LINC01359, LINC01360, LINC01707, LINC01739, LINC01748, LINC01753, LINC01755, LINC01758, LINC01767, LINC01788, LINC02238, LINC02567, LINC02777, LINC02784, LINC02791, LINC02796, LOC100507634, LOC101926944, LOC101926964, LOC101927342, LOC101929935, LOC107983962, LOC110120599, LOC110120600, LOC110120659, LOC110120763, LOC110121050, LOC110121108, LOC110121124, LOC110121125, LOC110121126, LOC110121161, LOC111501769, LOC112590804, LOC112590805, LOC112590806, LOC112590807, LOC112590808, LOC112590809, LOC112590810, LOC112590812, LOC112590814, LOC112590815, LOC112590816, LOC112590817, LOC112590818, LOC112590819, LOC112590820, LOC114827846, LOC115801429, LOC115801430, LOC120893134, LOC120893135, LOC120893136, LOC120893137, LOC120893138, LOC120893139, LOC120893140, LOC120893141, LOC121725023, LOC121725024, LOC121725025, LOC121725026, LOC121725027, LOC121725028, LOC121725029, LOC121725030, LOC121725032, LOC121725033, LOC122056873, LOC122056874, LOC122056875, LOC122056876, LOC122056877, LOC122056878, LOC122056879, LOC122056880, LOC122056881, LOC122056882, LOC122056883, LOC122056884, LOC122056887, LOC122056888, LOC122056889, LOC122056890, LOC122056891, LOC122056892, LOC122056893, LOC122056894, LOC122056895, LOC122056896, LOC122056897, LOC122056898, LOC122094839, LOC122094840, LOC122094841, LOC122094842, LOC122094843, LOC122094844, LOC122094845, LOC122094846, LOC122094847, LOC122094848, LOC122094849, LOC122094850, LOC122094851, LOC122094853, LOC126805734, LOC126805735, LOC126805736, LOC126805737, LOC126805738, LOC126805739, LOC126805740, LOC126805741, LOC126805742, LOC126805743, LOC126805744, LOC126805745, LOC126805746, LOC126805747, LOC126805748, LOC126805749, LOC126805750, LOC126805751, LOC126805752, LOC126805753, LOC126805754, LOC126805755, LOC126805756, LOC126805757, LOC126805758, LOC126805759, LOC126805760, LOC126805761, LOC126805762, LOC128772198, LRP8, LRP8-DT, LRRC40, LRRC42, LRRC53, LRRC7, LRRC7-AS1, LRRIQ3, MAGOH, MAGOH-DT, MIER1, MIR101-1, MIR12132, MIR1262, MIR1273F, MIR1273G, MIR186, MIR3116-1, MIR3116-2, MIR3117, MIR3671, MIR4422, MIR4422HG, MIR4711, MIR4781, MIR4794, MIR5095, MIR6068, MROH7, MROH7-TTC4, MRPL37, MSH4, MYSM1, NDC1, NEGR1, NEGR1-IT1, NFIA, NFIA-AS1, NFIA-AS2, OMA1, PARS2, PATJ, PCSK9, PDE4B, PDE4B-AS1, PGM1, PLPP3, PODN, PRKAA2, PTGER3, RABGGTB, RAVER2, ROR1, ROR1-AS1, RPE65, SCP2, SERBP1, SGIP1, SHISAL2A, SLC1A7, SLC35D1, SLC44A5, SNORD45A, SNORD45B, SNORD45C, SRSF11, SSBP3, SSBP3-AS1, ST6GALNAC3, TACSTD2, TCEANC2, TM2D1, TMEM59, TMEM61, TNNI3K, TRK-CTT7-1, TTC22, TTC4, TYW3, UBE2U, USP1, USP24, WLS, YIPF1, ZRANB2, ZRANB2-AS1, ZRANB2-DT, ZYG11A, ZYG11B		See cases	Pathogenic (Aug 12, 2011)	criteria provided, single submitter
Select item 1533252.	GRCh38/hg38 1p32.3-31.3(chr1:52787503-67339873)x3 GRCh37: Chr1:53253175-67805556 GRCh38: Chr1:52787503-67339873	LRP8-DT, LRRC42, MAGOH, MAGOH-DT, MIER1, MIR101-1, MIR12132, MIR1273F, MIR1273G, MIR3116-1, MIR3116-2, MIR3117, MIR3671, MIR4422, MIR4422HG, MIR4711, MIR4781, MIR4794, MIR5095, MIR6068, MROH7, MROH7-TTC4, MRPL37, MYSM1, NDC1, NFIA, NFIA-AS1, NFIA-AS2, OMA1, PARS2, PATJ, PCSK9, PDE4B, PDE4B-AS1, PGM1, PLPP3, PODN, PRKAA2, RAVER2, ROR1, ROR1-AS1, SCP2, SGIP1, SLC1A7, SLC35D1, SSBP3, SSBP3-AS1, TACSTD2, TCEANC2, TM2D1, TMEM59, TMEM61, TRK-CTT7-1, TTC22, TTC4, UBE2U, USP1, USP24, YIPF1, ZYG11A, ZYG11B, ACOT11, AK4, ALG6, ANGPTL3, ATG4C, BSND, C1orf141, C1orf87, C8A, C8B, CACHD1, CDCP2, CPT2, CYB5RL, CYP2J2, CZIB, DAB1, DAB1-AS1, DHCR24, DIO1, DLEU2L, DMRTB1, DNAI4, DNAJC6, DOCK7, DYNLT5, ECHDC2, EFCAB7, FAM151A, FGGY, FOXD3, FOXD3-AS1, FYB2, GLIS1, HOOK1, HSD52, IFT25, IL12RB2, IL23R, INSL5, ITGB3BP, JAK1, JUN, KANK4, L1TD1, LDLRAD1, LEPR, LEPROT, LEXM, LINC00466, LINC01135, LINC01358, LINC01359, LINC01739, LINC01748, LINC01753, LINC01755, LINC01767, LINC02777, LINC02784, LOC100507634, LOC101926944, LOC101926964, LOC101929935, LOC107983962, LOC110120599, LOC110120600, LOC110120659, LOC110120763, LOC110121050, LOC110121108, LOC110121124, LOC110121125, LOC110121126, LOC110121161, LOC111501769, LOC112590805, LOC112590806, LOC112590807, LOC112590808, LOC112590809, LOC112590810, LOC112590812, LOC112590814, LOC112590815, LOC112590816, LOC112590817, LOC112590818, LOC114827846, LOC120893134, LOC120893135, LOC120893136, LOC120893137, LOC120893138, LOC120893139, LOC120893140, LOC121725023, LOC121725024, LOC121725025, LOC121725026, LOC121725027, LOC121725028, LOC122056875, LOC122056876, LOC122056877, LOC122056878, LOC122056879, LOC122056880, LOC122056881, LOC122056882, LOC122056883, LOC122056884, LOC122056887, LOC122056888, LOC122056889, LOC122056890, LOC122056891, LOC122056892, LOC122056893, LOC122056894, LOC122056895, LOC122056896, LOC122056897, LOC122056898, LOC122094839, LOC122094840, LOC122094841, LOC122094842, LOC122094843, LOC122094844, LOC122094845, LOC126805734, LOC126805735, LOC126805736, LOC126805737, LOC126805738, LOC126805739, LOC126805740, LOC126805741, LOC126805742, LOC126805743, LOC126805744, LOC126805745, LOC126805746, LOC126805747, LOC126805748, LOC126805749, LOC126805750, LOC128772198, LRP8		See cases	Likely pathogenic (May 7, 2013)	no assertion criteria provided
Select item 1506473.	GRCh38/hg38 1p32.3-31.3(chr1:53627272-64248854)x1 GRCh37: Chr1:54092945-64714537 GRCh38: Chr1:53627272-64248854	ROR1, ROR1-AS1, SSBP3, SSBP3-AS1, TACSTD2, TCEANC2, TM2D1, TMEM59, TMEM61, TRK-CTT7-1, TTC22, TTC4, UBE2U, USP1, USP24, YIPF1, ACOT11, ALG6, ANGPTL3, ATG4C, BSND, C1orf87, C8A, C8B, CDCP2, CYB5RL, CYP2J2, DAB1, DAB1-AS1, DHCR24, DIO1, DLEU2L, DOCK7, EFCAB7, FAM151A, FGGY, FOXD3, FOXD3-AS1, FYB2, GLIS1, HOOK1, HSD52, IFT25, ITGB3BP, JUN, KANK4, L1TD1, LDLRAD1, LEXM, LINC00466, LINC01135, LINC01358, LINC01739, LINC01748, LINC01753, LINC01755, LINC01767, LINC02777, LINC02784, LOC100507634, LOC101926944, LOC101926964, LOC101929935, LOC110120599, LOC110120600, LOC110120659, LOC110120763, LOC110121050, LOC110121108, LOC110121124, LOC110121125, LOC110121126, LOC110121161, LOC111501769, LOC112590806, LOC112590807, LOC112590808, LOC112590809, LOC112590810, LOC112590812, LOC112590814, LOC112590815, LOC120893136, LOC120893137, LOC120893138, LOC120893139, LOC120893140, LOC121725023, LOC121725024, LOC121725025, LOC121725026, LOC121725027, LOC121725028, LOC122056878, LOC122056879, LOC122056880, LOC122056881, LOC122056882, LOC122056883, LOC122056884, LOC122056887, LOC122056888, LOC122056889, LOC122056890, LOC122056891, LOC122056892, LOC122056893, LOC122056894, LOC122056895, LOC122056896, LOC122056897, LOC122056898, LOC122094839, LOC122094840, LOC122094841, LOC122094842, LOC126805734, LOC126805735, LOC126805736, LOC126805737, LOC126805738, LOC126805739, LOC126805740, LOC126805741, LOC126805742, LOC126805743, LOC126805744, LOC126805745, LOC126805746, LOC128772198, LRRC42, MIR12132, MIR3116-1, MIR3116-2, MIR4422, MIR4422HG, MIR4711, MIR4781, MIR6068, MROH7, MROH7-TTC4, MRPL37, MYSM1, NDC1, NFIA, NFIA-AS1, NFIA-AS2, OMA1, PARS2, PATJ, PCSK9, PGM1, PLPP3, PRKAA2		See cases	Pathogenic (Jul 5, 2011)	no assertion criteria provided
Select item 599684.	GRCh38/hg38 1p32.3-31.3(chr1:53738212-61439648)x1 GRCh37: Chr1:54203885-61905320 GRCh38: Chr1:53738212-61439648	ACOT11, BSND, C1orf87, C8A, C8B, CDCP2, CYB5RL, CYP2J2, DAB1, DAB1-AS1, DHCR24, DIO1, FAM151A, FGGY, FYB2, GLIS1, HOOK1, HSD52, IFT25, JUN, LDLRAD1, LEXM, LINC01135, LINC01358, LINC01748, LINC01753, LINC01755, LINC01767, LINC02777, LINC02784, LOC100507634, LOC101926944, LOC101926964, LOC101929935, LOC110121125, LOC110121126, LOC110121161, LOC111501769, LOC112590806, LOC112590807, LOC112590808, LOC112590809, LOC112590810, LOC112590812, LOC112590814, LOC120893136, LOC120893137, LOC120893138, LOC120893139, LOC120893140, LOC121725023, LOC121725024, LOC121725025, LOC122056879, LOC122056880, LOC122056881, LOC122056882, LOC122056883, LOC122056884, LOC122056887, LOC122056888, LOC122056889, LOC122056890, LOC122056891, LOC122056892, LOC122056893, LOC122056894, LOC122056895, LOC122056896, LOC122056897, LOC126805734, LOC126805735, LOC126805736, LOC126805737, LOC126805738, LOC126805739, LOC126805740, LOC126805741, LOC126805742, LOC126805743, LRRC42, MIR4422, MIR4422HG, MIR4711, MIR4781, MROH7, MROH7-TTC4, MRPL37, MYSM1, NDC1, NFIA, NFIA-AS1, NFIA-AS2, OMA1, PARS2, PCSK9, PLPP3, PRKAA2, SSBP3, SSBP3-AS1, TACSTD2, TCEANC2, TMEM59, TMEM61, TRK-CTT7-1, TTC22, TTC4, USP24, YIPF1		See cases	Pathogenic (Aug 12, 2011)	criteria provided, single submitter
Select item 13444965.	NC_000001.11:g.55030366T>C GRCh37: Chr1:55496039 GRCh38: Chr1:55030366	PCSK9		Familial hypercholesterolemia	association (Mar 3, 2022)	no assertion criteria provided
Select item 4407036.	NM_174936.3(PCSK9):c.-861G>A GRCh37: Chr1:55504650 GRCh38: Chr1:55038977	PCSK9		Hypercholesterolemia, familial, 1	Benign (Aug 23, 2017)	criteria provided, single submitter
Select item 2976837.	NM_174936.3(PCSK9):c.-353G>T GRCh37: Chr1:55505158 GRCh38: Chr1:55039485	PCSK9		Hypercholesterolemia, familial, 1, Familial hypobetalipoproteinemia	Uncertain significance (Jun 14, 2016)	criteria provided, single submitter
Select item 2976848.	NM_174936.3(PCSK9):c.-346G>C GRCh37: Chr1:55505165 GRCh38: Chr1:55039492	PCSK9		Hypercholesterolemia, autosomal dominant, 3, Hypobetalipoproteinemia	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 4383319.	NM_174936.3(PCSK9):c.-331C>A GRCh37: Chr1:55505180 GRCh38: Chr1:55039507	PCSK9		Hypercholesterolemia, familial, 1, Hypercholesterolemia, autosomal dominant, 3, Hypobetalipoproteinemia, not provided	Uncertain significance (Jan 5, 2022)	criteria provided, multiple submitters, no conflicts
Select item 26591110.	NM_174936.4(PCSK9):c.-287G>A GRCh37: Chr1:55505224 GRCh38: Chr1:55039551	PCSK9		Hypercholesterolemia, familial, 1, Hypercholesterolemia, autosomal dominant, 3, Hypobetalipoproteinemia	Benign/Likely benign (Jan 12, 2018)	criteria provided, multiple submitters, no conflicts
Select item 29768511.	NM_174936.4(PCSK9):c.-245G>C GRCh37: Chr1:55505266 GRCh38: Chr1:55039593	PCSK9		Hypobetalipoproteinemia, Hypercholesterolemia, autosomal dominant, 3	Uncertain significance (Aug 19, 2021)	criteria provided, multiple submitters, no conflicts
Select item 26591212.	NM_174936.4(PCSK9):c.-245G>T GRCh37: Chr1:55505266 GRCh38: Chr1:55039593	PCSK9		Hypobetalipoproteinemia, Hypercholesterolemia, autosomal dominant, 3, Hypercholesterolemia, familial, 1	Conflicting interpretations of pathogenicity (Jan 13, 2018)	criteria provided, conflicting interpretations
Select item 29768613.	NM_174936.4(PCSK9):c.-237T>G GRCh37: Chr1:55505274 GRCh38: Chr1:55039601	PCSK9		Familial hypobetalipoproteinemia, Hypercholesterolemia, familial, 1	Uncertain significance (Jun 14, 2016)	criteria provided, single submitter
Select item 29768714.	NM_174936.4(PCSK9):c.-221T>G GRCh37: Chr1:55505290 GRCh38: Chr1:55039617	PCSK9		Hypercholesterolemia, familial, 1, Familial hypobetalipoproteinemia	Uncertain significance (Jun 14, 2016)	criteria provided, single submitter
Select item 29768815.	NM_174936.4(PCSK9):c.-200C>A GRCh37: Chr1:55505311 GRCh38: Chr1:55039638	PCSK9		Hypercholesterolemia, familial, 1, Familial hypobetalipoproteinemia	Uncertain significance (Jun 14, 2016)	criteria provided, single submitter
Select item 29768916.	NM_174936.4(PCSK9):c.-185A>G GRCh37: Chr1:55505326 GRCh38: Chr1:55039653	PCSK9		Hypercholesterolemia, familial, 1, Familial hypobetalipoproteinemia	Uncertain significance (Jun 14, 2016)	criteria provided, single submitter
Select item 29769017.	NM_174936.4(PCSK9):c.-180T>G GRCh37: Chr1:55505331 GRCh38: Chr1:55039658	PCSK9		Hypercholesterolemia, familial, 1, Familial hypobetalipoproteinemia	Uncertain significance (Jun 14, 2016)	criteria provided, single submitter
Select item 44070418.	NM_174936.4(PCSK9):c.-168C>A GRCh37: Chr1:55505343 GRCh38: Chr1:55039670	PCSK9		Hypercholesterolemia, familial, 1	Benign	no assertion criteria provided
Select item 87635919.	NM_174936.4(PCSK9):c.-140C>T GRCh37: Chr1:55505371 GRCh38: Chr1:55039698	PCSK9		Hypercholesterolemia, autosomal dominant, 3, Hypobetalipoproteinemia	Conflicting interpretations of pathogenicity (Apr 28, 2017)	criteria provided, conflicting interpretations
Select item 26591320.	NM_174936.4(PCSK9):c.-73A>G GRCh37: Chr1:55505438 GRCh38: Chr1:55039765	PCSK9		Hypercholesterolemia, familial, 1	Uncertain significance (Mar 1, 2016)	criteria provided, single submitter
Select item 87440221.	NM_174936.4(PCSK9):c.-68C>T GRCh37: Chr1:55505443 GRCh38: Chr1:55039770	PCSK9		Hypobetalipoproteinemia, Hypercholesterolemia, autosomal dominant, 3	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 26591422.	NM_174936.4(PCSK9):c.-67C>A GRCh37: Chr1:55505444 GRCh38: Chr1:55039771	PCSK9		Hypercholesterolemia, familial, 1	Uncertain significance (Mar 1, 2016)	criteria provided, single submitter
Select item 3666623.	NM_174936.4(PCSK9):c.-64C>T GRCh37: Chr1:55505447 GRCh38: Chr1:55039774	PCSK9		Hypobetalipoproteinemia, Hypercholesterolemia, familial, 1, Hypercholesterolemia, autosomal dominant, 3	Benign (Jan 13, 2018)	criteria provided, multiple submitters, no conflicts
Select item 29769124.	NM_174936.4(PCSK9):c.-26G>A GRCh37: Chr1:55505485 GRCh38: Chr1:55039812	PCSK9		Hypobetalipoproteinemia, Hypercholesterolemia, autosomal dominant, 3	Benign/Likely benign (Jan 13, 2018)	criteria provided, single submitter
Select item 62797625.	NM_174936.4(PCSK9):c.-9C>T GRCh37: Chr1:55505502 GRCh38: Chr1:55039829	PCSK9		Familial hypercholesterolemia	Likely benign (Mar 12, 2018)	criteria provided, single submitter
Select item 26591526.	NM_174936.4(PCSK9):c.-8T>C GRCh37: Chr1:55505503 GRCh38: Chr1:55039830	PCSK9		Familial hypercholesterolemia, Hypercholesterolemia, familial, 1	Conflicting interpretations of pathogenicity (Mar 23, 2018)	criteria provided, conflicting interpretations
Select item 91999227.	NM_174936.4(PCSK9):c.2T>G (p.Met1Arg) GRCh37: Chr1:55505512 GRCh38: Chr1:55039839	PCSK9	M1R	Familial hypercholesterolemia	Uncertain significance (Jun 24, 2019)	criteria provided, single submitter
Select item 91997828.	NM_174936.4(PCSK9):c.6C>T (p.Gly2=) GRCh37: Chr1:55505516 GRCh38: Chr1:55039843	PCSK9		Familial hypercholesterolemia	Likely benign (Apr 20, 2019)	criteria provided, single submitter
Select item 146817529.	NM_174936.4(PCSK9):c.8C>A (p.Thr3Asn) GRCh37: Chr1:55505518 GRCh38: Chr1:55039845	PCSK9	T3N	Hypercholesterolemia, autosomal dominant, 3	Uncertain significance (Aug 26, 2021)	criteria provided, single submitter
Select item 63065730.	NM_174936.4(PCSK9):c.9C>T (p.Thr3=) GRCh37: Chr1:55505519 GRCh38: Chr1:55039846	PCSK9		Familial hypercholesterolemia, Hypercholesterolemia, autosomal dominant, 3	Likely benign (Jul 16, 2021)	criteria provided, multiple submitters, no conflicts
Select item 92091931.	NM_174936.4(PCSK9):c.10G>C (p.Val4Leu) GRCh37: Chr1:55505520 GRCh38: Chr1:55039847	PCSK9	V4L	Familial hypercholesterolemia	Uncertain significance (Dec 11, 2019)	criteria provided, single submitter
Select item 49223032.	NM_174936.4(PCSK9):c.10G>A (p.Val4Ile) GRCh37: Chr1:55505520 GRCh38: Chr1:55039847	PCSK9	V4I	Cardiovascular phenotype, Familial hypercholesterolemia, Hypercholesterolemia, familial, 1, Hypercholesterolemia, autosomal dominant, 3	Conflicting interpretations of pathogenicity (Oct 1, 2022)	criteria provided, conflicting interpretations
Select item 92630733.	NM_174936.4(PCSK9):c.17C>T (p.Ser6Phe) GRCh37: Chr1:55505527 GRCh38: Chr1:55039854	PCSK9	S6F	Familial hypercholesterolemia	Uncertain significance (Nov 1, 2019)	criteria provided, single submitter
Select item 165320134.	NM_174936.4(PCSK9):c.21G>A (p.Arg7=) GRCh37: Chr1:55505531 GRCh38: Chr1:55039858	PCSK9		Hypercholesterolemia, autosomal dominant, 3	Likely benign (Nov 18, 2020)	criteria provided, single submitter
Select item 62803135.	NM_174936.4(PCSK9):c.22C>T (p.Arg8Trp) GRCh37: Chr1:55505532 GRCh38: Chr1:55039859	PCSK9	R8W	Familial hypercholesterolemia	Uncertain significance (Jul 15, 2021)	criteria provided, single submitter
Select item 156484836.	NM_174936.4(PCSK9):c.27C>T (p.Ser9=) GRCh37: Chr1:55505537 GRCh38: Chr1:55039864	PCSK9		Hypercholesterolemia, autosomal dominant, 3, Cardiovascular phenotype	Likely benign (Oct 21, 2022)	criteria provided, multiple submitters, no conflicts
Select item 69666137.	NM_174936.4(PCSK9):c.27C>G (p.Ser9=) GRCh37: Chr1:55505537 GRCh38: Chr1:55039864	PCSK9		Familial hypercholesterolemia, Hypercholesterolemia, autosomal dominant, 3	Likely benign (Dec 11, 2020)	criteria provided, multiple submitters, no conflicts
Select item 92227538.	NM_174936.4(PCSK9):c.34C>A (p.Pro12Thr) GRCh37: Chr1:55505544 GRCh38: Chr1:55039871	PCSK9	P12T	Familial hypercholesterolemia, Cardiovascular phenotype, Hypercholesterolemia, autosomal dominant, 3	Uncertain significance (Sep 24, 2022)	criteria provided, multiple submitters, no conflicts
Select item 92740639.	NM_174936.4(PCSK9):c.35C>T (p.Pro12Leu) GRCh37: Chr1:55505545 GRCh38: Chr1:55039872	PCSK9	P12L	Hypercholesterolemia, autosomal dominant, 3, Familial hypercholesterolemia	Conflicting interpretations of pathogenicity (Sep 6, 2022)	criteria provided, conflicting interpretations
Select item 92768240.	NM_174936.4(PCSK9):c.36G>A (p.Pro12=) GRCh37: Chr1:55505546 GRCh38: Chr1:55039873	PCSK9		Familial hypercholesterolemia	Likely benign (Jul 9, 2019)	criteria provided, single submitter
Select item 92262241.	NM_174936.4(PCSK9):c.40C>T (p.Pro14Ser) GRCh37: Chr1:55505550 GRCh38: Chr1:55039877	PCSK9	P14S	Familial hypercholesterolemia	Uncertain significance (Nov 11, 2018)	criteria provided, single submitter
Select item 249675242.	NM_174936.4(PCSK9):c.42A>G (p.Pro14=) GRCh37: Chr1:55505552 GRCh38: Chr1:55039879	PCSK9		Cardiovascular phenotype	Likely benign (Mar 7, 2023)	criteria provided, single submitter
Select item 92411943.	NM_174936.4(PCSK9):c.42_44del (p.Leu23del) GRCh37: Chr1:55505552-55505554 GRCh38: Chr1:55039879-55039881	PCSK9	L23del	Familial hypercholesterolemia	Likely benign (Mar 19, 2018)	criteria provided, single submitter
Select item 92206344.	NM_174936.4(PCSK9):c.42_50del (p.Leu21_Leu23del) GRCh37: Chr1:55505552-55505560 GRCh38: Chr1:55039879-55039887	PCSK9		Hypercholesterolemia, autosomal dominant, 3, Familial hypercholesterolemia	Conflicting interpretations of pathogenicity (Aug 26, 2021)	criteria provided, conflicting interpretations
Select item 66273145.	NM_174936.4(PCSK9):c.45GCT[11] (p.Leu20_Leu23dup) GRCh37: Chr1:55505552-55505553 GRCh38: Chr1:55039879-55039880	PCSK9		Familial hypercholesterolemia, not provided, Hypercholesterolemia, autosomal dominant, 3	Uncertain significance (Sep 12, 2022)	criteria provided, multiple submitters, no conflicts
Select item 59737946.	NM_174936.4(PCSK9):c.45GCT[10] (p.Leu21_Leu23dup) GRCh37: Chr1:55505552-55505553 GRCh38: Chr1:55039879-55039880	PCSK9		Cardiovascular phenotype, Familial hypercholesterolemia, Hypercholesterolemia, autosomal dominant, 3, not specified, not provided	Conflicting interpretations of pathogenicity (Oct 21, 2022)	criteria provided, conflicting interpretations
Select item 43155547.	NM_174936.4(PCSK9):c.42_43insTG (p.Leu15fs) GRCh37: Chr1:55505552-55505553 GRCh38: Chr1:55039879-55039880	PCSK9	L15fs	Hypercholesterolemia, familial, 1	Pathogenic (Mar 1, 2016)	criteria provided, single submitter
Select item 26591648.	NM_174936.4(PCSK9):c.45GCT[9] (p.Leu22_Leu23dup) GRCh37: Chr1:55505552-55505553 GRCh38: Chr1:55039879-55039880	PCSK9		not provided, Hypercholesterolemia, autosomal dominant, 3, Hypercholesterolemia, familial, 1, not specified, Cardiovascular phenotype, Familial hypercholesterolemia	Conflicting interpretations of pathogenicity (Mar 1, 2023)	criteria provided, conflicting interpretations
Select item 23504349.	NM_174936.4(PCSK9):c.45GCT[8] (p.Leu23dup) GRCh37: Chr1:55505552-55505553 GRCh38: Chr1:55039879-55039880	PCSK9		Familial hypercholesterolemia, Hypercholesterolemia, familial, 1, Cardiovascular phenotype, not specified, Hypercholesterolemia, autosomal dominant, 3, not provided	Benign/Likely benign (Nov 29, 2022)	criteria provided, multiple submitters, no conflicts
Select item 92474050.	NM_174936.4(PCSK9):c.45GCT[4] (p.Leu21_Leu23del) GRCh37: Chr1:55505553-55505561 GRCh38: Chr1:55039880-55039888	PCSK9		Familial hypercholesterolemia	Uncertain significance (Nov 30, 2018)	criteria provided, single submitter
Select item 62805751.	NM_174936.4(PCSK9):c.45_46insGTG (p.Leu15_Leu16insVal) GRCh37: Chr1:55505553-55505554 GRCh38: Chr1:55039880-55039881	PCSK9		Familial hypercholesterolemia	Uncertain significance (Sep 24, 2018)	criteria provided, single submitter
Select item 62776452.	NM_174936.4(PCSK9):c.45GCT[5] (p.Leu22_Leu23del) GRCh37: Chr1:55505553-55505558 GRCh38: Chr1:55039880-55039885	PCSK9		Familial hypercholesterolemia, Cardiovascular phenotype	Likely benign (Jun 9, 2022)	criteria provided, multiple submitters, no conflicts
Select item 26591753.	NM_174936.4(PCSK9):c.45GCT[6] (p.Leu23del) GRCh37: Chr1:55505553-55505555 GRCh38: Chr1:55039880-55039882	PCSK9	L23del	not specified, not provided, Hypercholesterolemia, familial, 1, Hypercholesterolemia, autosomal dominant, 3, Cardiovascular phenotype	Conflicting interpretations of pathogenicity (Oct 31, 2022)	criteria provided, conflicting interpretations
Select item 168379354.	NM_174936.4(PCSK9):c.52_53insCGC (p.Leu17_Leu18insPro) GRCh37: Chr1:55505560-55505561 GRCh38: Chr1:55039887-55039888	PCSK9		not provided	Likely benign (Sep 30, 2019)	criteria provided, single submitter
Select item 174669655.	NM_174936.4(PCSK9):c.52C>T (p.Leu18=) GRCh37: Chr1:55505562 GRCh38: Chr1:55039889	PCSK9		Cardiovascular phenotype	Likely benign (Jul 30, 2020)	criteria provided, single submitter
Select item 174976456.	NM_174936.4(PCSK9):c.57G>C (p.Leu19=) GRCh37: Chr1:55505567 GRCh38: Chr1:55039894	PCSK9		Cardiovascular phenotype, Hypercholesterolemia, autosomal dominant, 3	Likely benign (Feb 7, 2022)	criteria provided, multiple submitters, no conflicts
Select item 203191557.	NM_174936.4(PCSK9):c.65_66insGCTCCT (p.Leu23_Gly24insLeuLeu) GRCh37: Chr1:55505573-55505574 GRCh38: Chr1:55039900-55039901	PCSK9		Hypercholesterolemia, autosomal dominant, 3	Likely benign (Sep 22, 2022)	criteria provided, single submitter
Select item 249827258.	NM_174936.4(PCSK9):c.65_66insGCC (p.Leu22_Leu23insPro) GRCh37: Chr1:55505575-55505576 GRCh38: Chr1:55039902-55039903	PCSK9		Familial hypercholesterolemia	Uncertain significance (Nov 10, 2021)	no assertion criteria provided
Select item 92708459.	NM_174936.4(PCSK9):c.65T>C (p.Leu22Pro) GRCh37: Chr1:55505575 GRCh38: Chr1:55039902	PCSK9	L22P	Familial hypercholesterolemia	Uncertain significance (Nov 22, 2019)	criteria provided, single submitter
Select item 63062360.	NM_174936.4(PCSK9):c.66C>T (p.Leu22=) GRCh37: Chr1:55505576 GRCh38: Chr1:55039903	PCSK9		Cardiovascular phenotype, Familial hypercholesterolemia, Hypercholesterolemia, autosomal dominant, 3	Likely benign (Oct 3, 2022)	criteria provided, multiple submitters, no conflicts
Select item 92715161.	NM_174936.4(PCSK9):c.70G>A (p.Gly24Ser) GRCh37: Chr1:55505580 GRCh38: Chr1:55039907	PCSK9	G24S	Cardiovascular phenotype, Familial hypercholesterolemia	Uncertain significance (Nov 19, 2022)	criteria provided, multiple submitters, no conflicts
Select item 44070562.	NM_174936.4(PCSK9):c.76G>A (p.Ala26Thr) GRCh37: Chr1:55505586 GRCh38: Chr1:55039913	PCSK9	A26T	Hypercholesterolemia, familial, 1	Pathogenic	no assertion criteria provided
Select item 92322563.	NM_174936.4(PCSK9):c.77C>T (p.Ala26Val) GRCh37: Chr1:55505587 GRCh38: Chr1:55039914	PCSK9	A26V	Familial hypercholesterolemia, Cardiovascular phenotype	Uncertain significance (Feb 4, 2021)	criteria provided, multiple submitters, no conflicts
Select item 176113064.	NM_174936.4(PCSK9):c.78G>A (p.Ala26=) GRCh37: Chr1:55505588 GRCh38: Chr1:55039915	PCSK9		Cardiovascular phenotype	Likely benign (Nov 9, 2020)	criteria provided, single submitter
Select item 176199865.	NM_174936.4(PCSK9):c.80G>A (p.Gly27Asp) GRCh37: Chr1:55505590 GRCh38: Chr1:55039917	PCSK9	G27D	Cardiovascular phenotype	Uncertain significance (Mar 3, 2022)	criteria provided, single submitter
Select item 92011866.	NM_174936.4(PCSK9):c.80G>C (p.Gly27Ala) GRCh37: Chr1:55505590 GRCh38: Chr1:55039917	PCSK9	G27A	Familial hypercholesterolemia	Uncertain significance (Apr 29, 2019)	criteria provided, single submitter
Select item 92036867.	NM_174936.4(PCSK9):c.81C>T (p.Gly27=) GRCh37: Chr1:55505591 GRCh38: Chr1:55039918	PCSK9		Familial hypercholesterolemia	Likely benign (Jul 14, 2018)	criteria provided, single submitter
Select item 49656668.	NM_174936.4(PCSK9):c.85del (p.Arg29fs) GRCh37: Chr1:55505593 GRCh38: Chr1:55039920	PCSK9	R29fs	Hypercholesterolemia, familial, 1, not specified	Conflicting interpretations of pathogenicity (Sep 29, 2021)	criteria provided, conflicting interpretations
Select item 117170569.	NM_174936.4(PCSK9):c.84C>T (p.Ala28=) GRCh37: Chr1:55505594 GRCh38: Chr1:55039921	PCSK9		Familial hypercholesterolemia	Likely benign (Feb 12, 2021)	criteria provided, single submitter
Select item 92080970.	NM_174936.4(PCSK9):c.85C>T (p.Arg29Cys) GRCh37: Chr1:55505595 GRCh38: Chr1:55039922	PCSK9	R29C	Familial hypercholesterolemia	Uncertain significance (Feb 4, 2019)	criteria provided, single submitter
Select item 87440371.	NM_174936.4(PCSK9):c.85C>G (p.Arg29Gly) GRCh37: Chr1:55505595 GRCh38: Chr1:55039922	PCSK9	R29G	Hypobetalipoproteinemia, Hypercholesterolemia, autosomal dominant, 3	Uncertain significance (Apr 27, 2017)	criteria provided, single submitter
Select item 207991172.	NM_174936.4(PCSK9):c.86G>A (p.Arg29His) GRCh37: Chr1:55505596 GRCh38: Chr1:55039923	PCSK9	R29H	Hypercholesterolemia, autosomal dominant, 3	Uncertain significance (Dec 25, 2021)	criteria provided, single submitter
Select item 92577773.	NM_174936.4(PCSK9):c.89C>A (p.Ala30Glu) GRCh37: Chr1:55505599 GRCh38: Chr1:55039926	PCSK9	A30E	Familial hypercholesterolemia	Uncertain significance (Dec 5, 2018)	criteria provided, single submitter
Select item 91864774.	NM_174936.4(PCSK9):c.90G>A (p.Ala30=) GRCh37: Chr1:55505600 GRCh38: Chr1:55039927	PCSK9		Familial hypercholesterolemia	Likely benign (Nov 11, 2018)	criteria provided, single submitter
Select item 69863575.	NM_174936.4(PCSK9):c.95AGGACG[3] (p.32ED[3]) GRCh37: Chr1:55505603-55505604 GRCh38: Chr1:55039930-55039931	PCSK9		Familial hypercholesterolemia, Hypercholesterolemia, autosomal dominant, 3	Likely benign (Sep 23, 2022)	criteria provided, multiple submitters, no conflicts
Select item 29769276.	NM_174936.4(PCSK9):c.94G>A (p.Glu32Lys) GRCh37: Chr1:55505604 GRCh38: Chr1:55039931	PCSK9	E32K	Hypobetalipoproteinemia, Homozygous familial hypercholesterolemia, Familial hypercholesterolemia, Hypercholesterolemia, autosomal dominant, 3, Cardiovascular phenotype, not provided, Hypercholesterolemia, familial, 1	Conflicting interpretations of pathogenicity (Apr 7, 2023)	criteria provided, conflicting interpretations
Select item 110738577.	NM_174936.4(PCSK9):c.96G>A (p.Glu32=) GRCh37: Chr1:55505606 GRCh38: Chr1:55039933	PCSK9		Hypercholesterolemia, autosomal dominant, 3	Likely benign (May 13, 2019)	criteria provided, single submitter
Select item 92733878.	NM_174936.4(PCSK9):c.97G>A (p.Asp33Asn) GRCh37: Chr1:55505607 GRCh38: Chr1:55039934	PCSK9	D33N	Hypercholesterolemia, autosomal dominant, 3, Familial hypercholesterolemia	Uncertain significance (Feb 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 53620279.	NM_174936.4(PCSK9):c.100G>A (p.Glu34Lys) GRCh37: Chr1:55505610 GRCh38: Chr1:55039937	PCSK9	E34K	Cardiovascular phenotype, Familial hypercholesterolemia, not specified, Hypercholesterolemia, autosomal dominant, 3, Hypobetalipoproteinemia	Uncertain significance (Mar 27, 2023)	criteria provided, multiple submitters, no conflicts
Select item 37584880.	NM_174936.4(PCSK9):c.103G>T (p.Asp35Tyr) GRCh37: Chr1:55505613 GRCh38: Chr1:55039940	PCSK9	D35Y	Hypercholesterolemia, autosomal dominant, 3, Cardiovascular phenotype, Familial hypercholesterolemia	Conflicting interpretations of pathogenicity (Jul 2, 2022)	criteria provided, conflicting interpretations
Select item 117203581.	NM_174936.4(PCSK9):c.105C>T (p.Asp35=) GRCh37: Chr1:55505615 GRCh38: Chr1:55039942	PCSK9		Familial hypercholesterolemia	Likely benign (Oct 26, 2020)	criteria provided, single submitter
Select item 92157082.	NM_174936.4(PCSK9):c.106G>A (p.Gly36Ser) GRCh37: Chr1:55505616 GRCh38: Chr1:55039943	PCSK9	G36S	Hypercholesterolemia, autosomal dominant, 3, Familial hypercholesterolemia	Uncertain significance (Apr 12, 2022)	criteria provided, multiple submitters, no conflicts
Select item 245416583.	NM_174936.4(PCSK9):c.107G>A (p.Gly36Asp) GRCh37: Chr1:55505617 GRCh38: Chr1:55039944	PCSK9	G36D	Cardiovascular phenotype	Uncertain significance (Dec 14, 2022)	criteria provided, single submitter
Select item 245416484.	NM_174936.4(PCSK9):c.108C>G (p.Gly36=) GRCh37: Chr1:55505618 GRCh38: Chr1:55039945	PCSK9		Cardiovascular phenotype	Likely benign (Nov 7, 2022)	criteria provided, single submitter
Select item 178874685.	NM_174936.4(PCSK9):c.108C>A (p.Gly36=) GRCh37: Chr1:55505618 GRCh38: Chr1:55039945	PCSK9		Cardiovascular phenotype	Likely benign (Aug 16, 2022)	criteria provided, single submitter
Select item 179719086.	NM_174936.4(PCSK9):c.111C>A (p.Asp37Glu) GRCh37: Chr1:55505621 GRCh38: Chr1:55039948	PCSK9	D37E	Cardiovascular phenotype	Uncertain significance (Feb 4, 2022)	criteria provided, single submitter
Select item 220149487.	NM_174936.4(PCSK9):c.114C>T (p.Tyr38=) GRCh37: Chr1:55505624 GRCh38: Chr1:55039951	PCSK9		Hypercholesterolemia, autosomal dominant, 3	Likely benign (May 26, 2022)	criteria provided, single submitter
Select item 92157188.	NM_174936.4(PCSK9):c.115G>A (p.Glu39Lys) GRCh37: Chr1:55505625 GRCh38: Chr1:55039952	PCSK9	E39K	Hypercholesterolemia, autosomal dominant, 3, Familial hypercholesterolemia	Uncertain significance (Sep 1, 2021)	criteria provided, multiple submitters, no conflicts
Select item 85256089.	NM_174936.4(PCSK9):c.118G>A (p.Glu40Lys) GRCh37: Chr1:55505628 GRCh38: Chr1:55039955	PCSK9	E40K	Hypercholesterolemia, autosomal dominant, 3	Uncertain significance (Dec 31, 2021)	criteria provided, single submitter
Select item 92464090.	NM_174936.4(PCSK9):c.123G>C (p.Leu41=) GRCh37: Chr1:55505633 GRCh38: Chr1:55039960	PCSK9		Familial hypercholesterolemia	Likely benign (Feb 25, 2019)	criteria provided, single submitter
Select item 53621391.	NM_174936.4(PCSK9):c.126G>T (p.Val42=) GRCh37: Chr1:55505636 GRCh38: Chr1:55039963	PCSK9		Cardiovascular phenotype, Familial hypercholesterolemia, Hypercholesterolemia, autosomal dominant, 3	Likely benign (Jul 25, 2022)	criteria provided, multiple submitters, no conflicts
Select item 63063392.	NM_174936.4(PCSK9):c.132C>T (p.Ala44=) GRCh37: Chr1:55505642 GRCh38: Chr1:55039969	PCSK9		Familial hypercholesterolemia	Likely benign (Aug 28, 2017)	criteria provided, single submitter
Select item 202986093.	NM_174936.4(PCSK9):c.135G>A (p.Leu45=) GRCh37: Chr1:55505645 GRCh38: Chr1:55039972	PCSK9		Hypercholesterolemia, autosomal dominant, 3	Likely benign (Sep 10, 2022)	criteria provided, single submitter
Select item 63013894.	NM_174936.4(PCSK9):c.136C>T (p.Arg46Cys) GRCh37: Chr1:55505646 GRCh38: Chr1:55039973	PCSK9	R46C	Familial hypercholesterolemia	Uncertain significance (Oct 18, 2018)	criteria provided, single submitter
Select item 287895.	NM_174936.4(PCSK9):c.137G>T (p.Arg46Leu) GRCh37: Chr1:55505647 GRCh38: Chr1:55039974	PCSK9	R46L	Cardiovascular phenotype, Hypobetalipoproteinemia, Familial hypercholesterolemia, not provided, not specified, Hypercholesterolemia, familial, 1, Hypercholesterolemia, autosomal dominant, 3	Benign/Likely benign (Oct 24, 2022)	criteria provided, multiple submitters, no conflicts
Select item 177153096.	NM_174936.4(PCSK9):c.138T>G (p.Arg46=) GRCh37: Chr1:55505648 GRCh38: Chr1:55039975	PCSK9		Cardiovascular phenotype	Likely benign (Mar 23, 2022)	criteria provided, single submitter
Select item 44070697.	NM_174936.4(PCSK9):c.140C>G (p.Ser47Cys) GRCh37: Chr1:55505650 GRCh38: Chr1:55039977	PCSK9	S47C	Hypercholesterolemia, familial, 1	Pathogenic	no assertion criteria provided
Select item 26290298.	NM_174936.4(PCSK9):c.141C>T (p.Ser47=) GRCh37: Chr1:55505651 GRCh38: Chr1:55039978	PCSK9		Cardiovascular phenotype, Hypobetalipoproteinemia, not provided, not specified, Hypercholesterolemia, familial, 1, Hypercholesterolemia, autosomal dominant, 3	Conflicting interpretations of pathogenicity (Mar 1, 2023)	criteria provided, conflicting interpretations
Select item 92751799.	NM_174936.4(PCSK9):c.142G>T (p.Glu48Ter) GRCh37: Chr1:55505652 GRCh38: Chr1:55039979	PCSK9	E48*	Familial hypercholesterolemia	Likely benign (Sep 30, 2019)	criteria provided, single submitter
Select item 440707100.	NM_174936.4(PCSK9):c.142G>A (p.Glu48Lys) GRCh37: Chr1:55505652 GRCh38: Chr1:55039979	PCSK9	E48K	Hypercholesterolemia, autosomal dominant, 3, Familial hypercholesterolemia	Uncertain significance (Aug 31, 2021)	criteria provided, multiple submitters, no conflicts

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