Unique variants in the LDLR gene

Information The variants shown are described using the NM_000527.4 transcript reference sequence.

2036 entries on 21 pages. Showing entries 1 - 100.
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Effect     

Reported     

Exon     

AscendingDNA change (cDNA)     

Protein     

RNA change     

DNA/Legacy     

Predict/MutationTaster     

P-domain     

Predict/PolyPhen     

Predict/SIFT     

Conservation     

Predict/Splice     

Enzyme activity     

Classification method     

Clinical classification     

DNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Owner     
+/+ 1 4 c.[649_654dup;657_661del] p.([Asp217_Gly218dup; Gly219fs*7]) r.(?) [D196_G197dup;G198fsX7] - LDL-receptor class A5 - - - - - ACGS pathogenic g.[11216231_11216236dup;11216239_11216243del] - - - LDLR_000370 predicted trucated protein; 6bp duplication (GATGGT) & 5bp deletion (CCCCG) PubMed: Giesel 1995 - - Germline - - - - - Sarah Leigh
+/+ 1 _1_2i c.-1823_190+566del p.0? r.(?) - - Promoter - exon 2 - - - - - ACGS pathogenic g.11198402_11211587del g.11087726_11100911del - - LDLR_000005 predicted no protein; Deletion of exons 1 & 2; May be the same as c.1-?_190+?del PubMed: Goldmann 2010 - - Germline - 1/37 patients with LDLR mutation. 1/1945 FH patients. Variant not present in controls - - - Sarah Leigh
+/. 1 _1_1i c.-1818_67+1091delinsTTC p.0? r.0? - - - - - - - - - pathogenic (dominant) g.11198407_11201382delinsTTC g.11087731_11090706delinsTTC 11198406_11201384del, insTTCG - LDLR_002172 2977 del exon 1 PubMed: Wong 2019, Journal: Wong 2019 - - Germline yes - - - - Karen HY Wong
-?/., -?/-? 3 _1 c.-268G>T p.(=), p.? r.(?), r.(=) - - FP2 cis acting regulatory element - - 7/8 conservation {PMID25248394:Khamis et al European Journal of Human Genetics (2015) 23, 790–795} - Transient transfection in HepG2 cells demonstrated, limited effect on LDLR activity ACGS likely benign g.11199957G>T g.11089281G>T LDLR(NM_000527.4):c.-268G>T - LDLR_000374 VKGL data sharing initiative Nederland, 1 more item PubMed: Scholtz 1999, PubMed: Whittall 2002 - - CLASSIFICATION record, Germline - - - - - VKGL-NL_AMC, Sarah Leigh
?/? 1 _1 c.-221_-220insA p.? r.(=) - - FP1 cis acting regulatory element - - - - - ACGS VUS g.11200005dup g.11089329dup - - LDLR_000950 - PubMed: Bodamer 2002 - - Germline - - - - - Sarah Leigh
-?/-?, -?/? 2 _1 c.-217C>T p.? r.(=) IVS1-217C>T - FP1 cis acting regulatory element - - 1 more item - 1 more item ACGS likely benign g.11200008C>T g.11089332C>T - - LDLR_000015 2 more items PubMed: Scholtz 1999, PubMed: Snozek 2009 - - Germline - - - - - Sarah Leigh
-?/? 1 _1 c.-215A>G p.? r.(=) - - FP1 cis acting regulatory element - - 1 more item - 1 more item ACGS likely benign g.11200010A>G g.11089334A>G - - LDLR_000006 prediction no effect on transcription PubMed: Usifo 2012 - - Germline - - - - - Sarah Leigh
-?/-? 1 _1 c.-208A>T p.? r.(=) - - SREBP1/FP1 - - 1 more item - 100% of wt trascriptional activity (luciferase assay). ACGS likely benign g.11200017A>T g.11089341A>T - - LDLR_001268 prediction no effect on transcription PubMed: De Castro-Oros 2011 - - Germline - 0.06 in this study - - - Sarah Leigh
?/? 1 _1 c.-206C>T p.? r.(=) - - SREBP1/FP1 - - 1 more item - not tested ACGS VUS g.11200019C>T g.11089343C>T - - LDLR_001010 - PubMed: Lind 2002 - - Germline - - - - - Sarah Leigh
?/? 1 _1 c.-193_-186delinsTG p.? r.(=) - - SREBP1 binding site - - - - not tested ACGS VUS g.11200032_11200039delinsTG g.11089356_11089363delinsTG - - LDLR_001024 - PubMed: Fouchier 2005 - - Germline - - - - - Sarah Leigh
?/? 1 _1 c.-188C>T p.? r.(=) - - SREBP1 binding site - - 1 more item - not tested ACGS VUS g.11200037C>T g.11089361C>T - - LDLR_001023 - PubMed: Fouchier 2005 - - Germline - - - - - Sarah Leigh
+?/. 1 - c.-187C>T p.(=) r.(?) - - - - - - - - - likely pathogenic g.11200038C>T g.11089362C>T LDLR(NM_000527.4):c.-187C>T - LDLR_002180 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
+/+ 10 _1_1i c.(?_-187)_(67+1_68-1)del p.0? r.(?) FH Valencia-5, FH Denver-1, FH French Canadian-1 - promotor & exon 1, Promotor - exon 1, Promoter - exon 1 - - - - <2% LDLR activity when Htz with unknown FH allele, <2% LDLR activity in Hmz ACGS pathogenic g.11200038_11200292del - c.-187-?_67+?del - LDLR_000007 10 more items PubMed: Fouchier 2005, PubMed: Chaves 2001, PubMed: Tichy 2012, PubMed: Koeijvoets 2005, 5 more items - - Germline - 0.19 in this study, NA - - - Sarah Leigh
+?/+? 1 _1_1i c.(?_-187)_(67+1_68-1)dup p.0? r.(?) - - Promotor - exon 1 - - - - - ACGS likely pathogenic g.11200038_11200292dup - c.-187-?_67+?dup - LDLR_001273 1 more item PubMed: Sharifi 2016 - - Germline - NA - - - Sarah Leigh
+/+ 4 _1_2i c.(?_-187)_(190+1_191-1)del p.0? r.(?) FH Valencia-1, FH Siracusa - Promotor - exon 2 - - - - 45% LDLR activity in Htz fibroblasts ACGS pathogenic g.11200038_11211022del - c.-187-?_190+?del - LDLR_000008 4 more items PubMed: Chmara 2010, PubMed: Chaves 2001, PubMed: Koeijvoets 2005, PubMed: Garuti 1996 - - Germline - 4/169 patients with LDLR mutation. 4/378 FH patients. Variant not present in Normal Non FH patients - - - Sarah Leigh
+/+ 3 _1_6i c.(?_-187)_(940+1_941-1)del p.0? r.(?) FH Bologna-1, FH Bari-3 - Promoter - exon 6 - - - - 40-50% LDLR activity in Htz ACGS pathogenic g.11200038_11218191del - c.-187-?_940+?del - LDLR_001274 3 more items PubMed: Sun 1992, PubMed: Bertolini 2000, PubMed: Lelli 1991 - - Germline - - - - - Sarah Leigh
+/+ 1 _1_7i c.(?_-187)_(1060+1_1061-1)del p.0? r.(?) - - Promoter - exon 7 - - - - - ACGS pathogenic g.11200038_11221448del - c.-187-?_1060+?del - LDLR_001271 1 more item PubMed: Marduel 2010 - - Germline - - - - - Sarah Leigh
+/+ 1 _1_8i c.(?_-187)_(1186+1_1187-1)del p.0? r.(?) - - Promoter - exon 8 - - - - - ACGS pathogenic g.11200038_11222316del - c.-187-?_1186+?del - LDLR_001091 1 more item PubMed: Fouchier 2005 - - Germline - - - - - Sarah Leigh
+/+ 1 _1_12i c.(?_-187)_(1845+1_1846-1)del p.0? r.(?) - - Promoter - exon 12 - - - - - ACGS pathogenic g.11200038_11227675del - c.-187-?_1845+?del - LDLR_001167 1 more item PubMed: Shin 2015 - - Germline - - - - - Sarah Leigh
+/+ 1 _1_14i c.(?_-187)_(2140+1_2141-1)del p.0? r.(?) - - Promoter - exon 14 - - - - - ACGS pathogenic g.11200038_11231199del - c.-187-?_2140+?del - LDLR_000009 1 more item PubMed: Van der Graaf 2011 - - Germline - - - - - Sarah Leigh
+/+ 1 _1_15i c.(?_-187)_(2311+1_2312-1)del p.0? r.(?) - - Promoter - exon 15 - - - - - ACGS pathogenic g.11200038_11234021del - c.-187-?_2311+?del - LDLR_001272 1 more item PubMed: Bertolini 2013 - - Germline - - - - - Sarah Leigh
+/+ 2 _1_18_ c.(?_-187)_(*2584_?)del p.0? r.(?) - - whole gene - - - - - ACGS pathogenic g.11200038_11244576del, g.11200038_11244577del g.11089362_11133900del, g.11089362_11133901del c.-187-?_*2584del - LDLR_000010 predicted no protein; deletion of whole gene, 1 more item PubMed: Marduel 2010, PubMed: Usifo 2012 - - Germline - - - - - Sarah Leigh
+?/+? 1 1 c.-185_-183del p.(=) r.(=) FH Pedi-2 - SREBP1 binding site - - - - 1 more item ACGS likely pathogenic g.11200040_11200042del g.11089364_11089366del c.-185_-183delCTT - LDLR_000103 1 more item PubMed: Peeters 1998 - - Germline - - - - - Sarah Leigh
+?/+? 1 1 c.-156C>T p.(=) r.(=) - - SREBP2 binding site - - 1 more item - Not tested ACGS likely pathogenic g.11200069C>T g.11089393C>T - - LDLR_001112 1 more item PubMed: Dedoussis 2004 - - Germline - - - - - Sarah Leigh
+?/+? 1 1 c.-155_-154delinsTTCTGCAAACTCCT p.(=) r.(=) - - SREBP2 binding site - - - - 11% of wt trascriptional activity (luciferase assay) ACGS likely pathogenic g.11200070_11200071delinsTTCTGCAAACTCCT g.11089394_11089395delinsTTCTGCAAACTCCT - - LDLR_001267 1 more item PubMed: De Castro-Oros 2011 - - Germline - 0.06 in this study - - - Sarah Leigh
?/? 1 1 c.-153C>T p.(=) r.(=) - - SREBP2 binding site - - 1 more item - Not tested ACGS VUS g.11200072C>T g.11089396C>T - - LDLR_001116 1 more item PubMed: Francova 2004 - - Germline - - - - - Sarah Leigh
+/., +?/+? 4 1 c.-152C>T p.(=) r.(?), r.(=) - - SREBP2 binding site - - 1 more item - 40% of wt transcription using luciferase assay ACGS pathogenic, likely pathogenic g.11200073C>T g.11089397C>T LDLR(NM_000527.4):c.-152C>T - LDLR_001266 VKGL data sharing initiative Nederland, predicted reduced transcription; Hobb's numbering: -59C>T. PubMed: Scholtz 1999, PubMed: Khoo 2000, PubMed: Brusgaard 2006 - - CLASSIFICATION record, Germline - - - - - VKGL-NL_AMC, Sarah Leigh
+?/. 1 - c.-150A>G p.(=) r.(?) - - - - - - - - - likely pathogenic g.11200075A>G g.11089399A>G LDLR(NM_000527.4):c.-150A>G - LDLR_002040 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
?/? 1 1 c.-149C>A p.(=) r.(=) - - SREBP2 binding site - - - - not tested ACGS VUS g.11200076C>A g.11089400C>A - - LDLR_001264 Hobb's numbering: -56C>A. PubMed: Tichy 2012 - - Germline - - - - - Sarah Leigh
?/? 1 1 c.-146C>A p.(=) r.(=) - - SREBP2 binding site - - 1 more item - Not tested ACGS VUS g.11200079C>A g.11089403C>A - - LDLR_001263 Hobb's numbering -53C>A PubMed: Day 1997 - - Germline - not in ExAC, June 2015 - - - Sarah Leigh
?/. 1 - c.-143A>C p.(=) r.(?) - - - - - - - - - VUS g.11200082A>C g.11089406A>C LDLR(NM_000527.4):c.-143A>C - LDLR_002041 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
+/. 1 - c.-142C>G p.(=) r.(?) - - - - - - - - - pathogenic g.11200083C>G g.11089407C>G LDLR(NM_000527.4):c.-142C>G - LDLR_001923 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
?/? 2 1 c.-142C>T p.(=) r.(=) - - SP1 binding site - - 1 more item - 1 more item ACGS VUS g.11200083C>T g.11089407C>T - - LDLR_000857 2 more items PubMed: Mozas 2002, PubMed: Leren 2004 - - Germline - - - - - Sarah Leigh
+?/+? 2 1 c.-140C>G p.(=) r.(=) - - SP1 binding site - - 1 more item - 2 more items ACGS likely pathogenic g.11200085C>G g.11089409C>G - - LDLR_000322 prediction reduced transcription PubMed: Alonso 2009, PubMed: De Castro-Oros 2011 - - Germline - 0.3 in this study - - - Sarah Leigh
+?/+? 1 1 c.-140C>T p.(=) r.(=) - - SP1 binding site - - 1 more item - 1 more item ACGS likely pathogenic g.11200085C>T g.11089409C>T - - LDLR_000323 1 more item PubMed: De Castro-Oros 2011 - - Germline - 0.06 in this study - - - Sarah Leigh
?/? 1 1 c.-139C>A p.(=) r.(=) - - SP1 binding site - - 1 more item - Not tested ACGS VUS g.11200086C>A g.11089410C>A - - LDLR_001025 - PubMed: Fouchier 2005 - - Germline - - - - - Sarah Leigh
+/., +?/+? 2 1 c.-139C>G p.(=) r.(?), r.(=) - - SP1 binding site - - 1 more item - 26% of wt using luciferase assay ACGS pathogenic, likely pathogenic g.11200086C>G g.11089410C>G LDLR(NM_000527.4):c.-139C>G - LDLR_001190 VKGL data sharing initiative Nederland, 1 more item PubMed: Smith 2007 - - CLASSIFICATION record, Germline - - - - - VKGL-NL_AMC, Sarah Leigh
+/., +?/+? 2 1 c.-138del p.(=) r.(?), r.(=) FH Pyrgos - SP1 binding site - - 1 more item - 24% LDLR activity in Htz lymphocytes. Reduced level of expression ACGS pathogenic, likely pathogenic g.11200087del g.11089411del LDLR(NM_000527.4):c.-138delT, c.-138delT - LDLR_000959 VKGL data sharing initiative Nederland, 1 more item PubMed: Dedoussis 2003 - - CLASSIFICATION record, Germline - - - - - VKGL-NL_AMC, Sarah Leigh
+?/+? 1 1 c.-138T>C p.(=) r.(=) - - SP1 binding site - - 1 more item - Luciferase assay 43% of normal in the presence & 25% in the absence of sterols in the medium. ACGS likely pathogenic g.11200087T>C g.11089411T>C - - LDLR_000438 predicted reduced transcription; Hobbs' numbering: -45T>C PubMed: Sun 1995 - - Germline - - - - - Sarah Leigh
+/., ?/? 3 1 c.-137C>T p.(=) r.(?), r.(=) FH Albuquerque - SP1 binding site - - 1 more item - 5-15% LDLR activity when Htz with c.1222G>A, p.(Glu408Lys), FH Algeria-1, FH Osaka, Not tested ACGS pathogenic, VUS g.11200088C>T g.11089412C>T LDLR(NM_000527.4):c.-137C>T - LDLR_001262 VKGL data sharing initiative Nederland, 2 more items PubMed: Dedoussis 2003, PubMed: Mak 1998 - - CLASSIFICATION record, Germline - - - - - VKGL-NL_AMC, Sarah Leigh
+?/+? 1 1 c.-136C>G p.(=) r.(=) Hobb’s -43C>T - SP1 binding site - - 1 more item - 1 more item ACGS likely pathogenic g.11200089C>G g.11089413C>G - - LDLR_001260 prediction reduced transcription PubMed: De Castro-Oros 2011 - - Germline - 0.06 in this study - - - Sarah Leigh
+/., +?/+? 6 1 c.-136C>T p.(=) r.(?), r.(=) Hobb’s -43C>T - SP1 binding site - - 1 more item - Transcription level of variant reduced to <5% of wt, 1 more item ACGS pathogenic, likely pathogenic g.11200089C>T g.11089413C>T LDLR(NM_000527.4):c.-136C>T - LDLR_001261 VKGL data sharing initiative Nederland, prediction reduced transcription, 1 more item PubMed: Koivisto 1994, PubMed: Kim 2004, PubMed: Leren 2004, PubMed: Fouchier 2005, 1 more item - - CLASSIFICATION record, Germline - - - - - VKGL-NL_AMC, Sarah Leigh
?/. 1 _1 c.-135C>A p.(?) r.(=) - Disease causing - - - - - - ACMG VUS g.11200090C>A g.11089414C>A g.5034C>A - LDLR_001906 - Journal: Banares 2017 - - Germline - 1/33 cases - - - Virginia Bañares
+/., +?/+?, +?/+, +?/? 5 1 c.-135C>G p.(=), p.(0) r.(?), r.(=) Hobb’s -42C>T; FH Columbia-2 - SP1 binding site - - 1 more item - 2 more items ACGS pathogenic, likely pathogenic g.11200090C>G g.11089414C>G LDLR(NM_000527.4):c.-135C>G - LDLR_000003 VKGL data sharing initiative Nederland, prediction reduced transcription, 1 more item PubMed: Hobbs 1992, PubMed: Mozas 2004, PubMed: Bourbon 2009, PubMed: Medeiros 2010 - - CLASSIFICATION record, Germline - - - - - VKGL-NL_AMC, Sarah Leigh
?/. 1 1 c.-134C>A p.(=) r.(=) - - - - - - - - - VUS g.11200091C>A g.11089415C>A - - LDLR_002179 - Journal: Gomez 2017 - - Germline/De novo (untested) - - - - - Andrea Gomez
?/. 1 - c.-122C>T p.(=) r.(?) - - - - - - - - - VUS g.11200103C>T g.11089427C>T LDLR(NM_000527.4):c.-122C>T - LDLR_002042 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
+?/+? 2 1 c.-121T>C p.(=) r.(=) - - TATA box/SP1 binding site - - 1 more item - 1 more item ACGS likely pathogenic g.11200104T>C g.11089428T>C - - LDLR_000002 1 more item PubMed: Taylor 2010, PubMed: Hooper 2012 - - Germline - - - - - Sarah Leigh
+?/., +?/+? 5 1 c.-120C>T p.(=) r.(?), r.(=) Hobb’s -27C>T - TATA box/SP1 binding site - - 1 more item - 3% of WT promoter activity (luciferase assay) ACGS likely pathogenic g.11200105C>T g.11089429C>T LDLR(NM_000527.4):c.-120C>T - LDLR_001115 VKGL data sharing initiative Nederland, prediction reduced transcription, 1 more item PubMed: Francova 2004, PubMed: Alonso 2009 - - CLASSIFICATION record, Germline - - - - - VKGL-NL_AMC, Sarah Leigh
?/+? 1 1 c.-101T>C p.(=) r.(=) - - TATA box - - 1 more item - 1 more item ACGS VUS g.11200124T>C g.11089448T>C - - LDLR_000001 1 more item PubMed: Usifo 2012 - - Germline - - - - - Sarah Leigh
?/. 1 - c.-98C>T p.(=) r.(?) - - - - - - - - - VUS g.11200127C>T g.11089451C>T LDLR(NM_000527.4):c.-98C>T - LDLR_001925 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-?/-? 1 1 c.-88G>A p.(=) r.(=) - - 5'UTR - - 1 more item - Normal levels of transcription (luciferase assay in HEPG2 cells) ACGS likely benign g.11200137G>A g.11089461G>A - - LDLR_001270 prediction no effect on transcription PubMed: De Castro-Oros 2011 - - Germline - 0.06 in this study - - - Sarah Leigh
?/? 1 1 c.-68A>C p.(=) r.(=) - - 5'UTR - - 1 more item - not tested ACGS VUS g.11200157A>C g.11089481A>C - - LDLR_001121 - PubMed: Laurie 2004 - - Germline - - - - - Sarah Leigh
?/. 1 - c.-48A>G p.(=) r.(?) - - - - - - - - - VUS g.11200177A>G g.11089501A>G LDLR(NM_000527.4):c.-48A>G - LDLR_002216 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. 1 - c.-47G>T p.(=) r.(?) - - - - - - - - - likely benign g.11200178G>T - LDLR(NM_000527.4):c.-47G>T - LDLR_002221 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/-? 1 1 c.-36T>G p.(=) r.(=) - - 5'UTR - - 1 more item - Normal levels of transcription (luciferase assay in HEPG2 cells) ACGS likely benign g.11200189T>G g.11089513T>G - - LDLR_001269 prediction no effect on transcription PubMed: De Castro-Oros 2011 - - Germline - 0.06 in this study - - - Sarah Leigh
?/? 1 1 c.-23A>C p.(=) r.(=) - - 5'UTR - - 1 more item - not tested ACGS VUS g.11200202A>C g.11089526A>C - - LDLR_000815 - PubMed: Mozas 2004 - - Germline - - - - - Sarah Leigh
?/. 1 - c.-22C>T p.(=) r.(?) - - - - - - - - - VUS g.11200203C>T g.11089527C>T LDLR(NM_000527.4):c.-22C>T - LDLR_002181 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
?/? 1 1 c.-22del p.(=) r.(=) - - 5'UTR - - 1 more item - not tested ACGS VUS g.11200203del g.11089527del c.-22delC - LDLR_001139 1 more item PubMed: Sozen 2005 - - Germline - - - - - Sarah Leigh
?/? 1 1 c.-14C>A p.(=) r.(=) - - 5'UTR - - 1 more item - not tested ACGS VUS g.11200211C>A g.11089535C>A - - LDLR_001265 - PubMed: Day 1997 - - Germline - - - - - Sarah Leigh
-?/? 1 1 c.-13A>G p.(=) r.(=) - - 5'UTR - - 1 more item - 1 more item ACGS likely benign g.11200212A>G g.11089536A>G - - LDLR_000004 prediction no effect on transcription PubMed: Medeiros 2010 - - Germline - - - - - Sarah Leigh
-?/. 1 - c.-7T>A p.(=) r.(?) - - - - - - - - - likely benign g.11200218T>A g.11089542T>A LDLR(NM_000527.4):c.-7T>A - LDLR_001926 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
?/? 1 1 c.-5C>T p.(=) r.(=) - - 5'UTR - - 1 more item - not tested ACGS VUS g.11200220C>T g.11089544C>T - - LDLR_001026 - PubMed: Fouchier 2005 - - Germline - - - - - Sarah Leigh
+?/+? 3 1 c.1A>C p.0? r.(?) - disease causing signal peptide PPII HumDiv benign, 0.167; HumVar benign, 0.354 Not tolerated; SIFT2 Not tolerated 0.175; (Ch, Rh, B, M, Ra, H, X, S) - - ACGS likely pathogenic g.11200225A>C g.11089549A>C - - LDLR_000356 1 more item PubMed: Tosi 2007, PubMed: Chaves 2001, PubMed: Fouchier 2005 - - Germline - not in ExAC, May 2015 - - - Sarah Leigh
+?/+?, +/. 4 1 c.1A>G p.0?, p.(Met1?) r.(?) - disease causing signal peptide PPII HumDiv benign, 0.323; HumVar benign, 0.354 Not tolerated; SIFT2 Not tolerated 0.175; (Ch, Rh, B, M, Ra, H, X, S) - - ACGS likely pathogenic, pathogenic g.11200225A>G g.11089549A>G LDLR(NM_000527.4):c.1A>G (p.M1?) - LDLR_000328 VKGL data sharing initiative Nederland, 1 more item PubMed: Nauck 2001, PubMed: Bourbon 2008, PubMed: Lombardi 1997 - - Germline, CLASSIFICATION record - not in ExAC, May 2015 - - - Sarah Leigh, VKGL-NL_AMC
+/., +?/+? 2 1 c.1A>T p.(Met1?), p.0? r.(?) - disease causing signal peptide PPII HumDiv benign, 0.167; HumVar benign, 0.354 Not tolerated; SIFT2 Not tolerated 0.175; (Ch, Rh, B, M, Ra, H, X, S) - - ACGS pathogenic, likely pathogenic g.11200225A>T g.11089549A>T LDLR(NM_000527.4):c.1A>T (p.M1?) - LDLR_000445 VKGL data sharing initiative Nederland, 1 more item PubMed: Langenhoven 1996 - - CLASSIFICATION record, Germline - not in ExAC, May 2015 - - - VKGL-NL_AMC, Sarah Leigh
+/+ 2 _1_2i c.[(?_-187)_(190+1_191-1)del;(1060+1_1061-1)_(1845+1_1846-1)del] p.0? r.(?) - - Promoter - exon 2 & exons 8-12 - - - - - ACGS pathogenic g.[11200038_11211021del;11222190_11227674del] - c.[-187-?_190+?del;1061-?_1845+?del] - LDLR_000000 2 more items PubMed: Bourbon 2008, PubMed: Marduel 2010 - - Germline - - - - - Sarah Leigh
+/. 1 - c.2T>C p.(Met1?) r.(?) - - - - - - - - - pathogenic g.11200226T>C g.11089550T>C LDLR(NM_000527.4):c.2T>C (p.M1?) - LDLR_001927 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
+?/? 1 1 c.3G>T p.0? r.(?) - disease causing signal peptide PPII HumDiv possibly damaging, 0.525; HumVar possibly damaging, 0.48 Not tolerated; SIFT2 Not tolerated 0.175; (Ch, Rh, B, M, Ra, H, X, S) - - ACGS likely pathogenic g.11200227G>T g.11089551G>T - - LDLR_000316 p.(Met1Ile), normal translation from this codon would not occur Lucac Tichy db submission - - Germline - 1/3900 in this study. not in ExAC, May 2015 - - - Sarah Leigh
-?/-? 1 1 c.4G>A p.(Gly2Arg) r.(?) G-20R polymorphism signal peptide PPII HumDiv benign, 0; HumVar benign, 0 Tolerated; SIFT2 Not tolerated 0.113; (Rh) - - ACGS likely benign g.11200228G>A g.11089552G>A - - LDLR_001027 - PubMed: Fouchier 2005 - rs5931 Germline - not in ExAC, May 2015 - - - Sarah Leigh
-?/-? 1 1 c.4G>C p.(Gly2Arg) r.(?) G-20R polymorphism signal peptide PPII HumDiv benign, 0; HumVar benign, 0 Tolerated; SIFT2 Not tolerated 0.113; (Rh) - - ACGS likely benign g.11200228G>C g.11089552G>C - - LDLR_001001 - PubMed: Salazar 2002 - rs5931 Germline - 0.00001731 ExAC, May 2015 - - - Sarah Leigh
+/+ 1 1 c.6del p.(Trp4Glyfs*202) r.(?) G-20fsX214 - signal peptide - - - - - ACGS pathogenic g.11200230del g.11089554del c.6delG - LDLR_001825 1 more item PubMed: Day 1997 - - Germline - - - - - Sarah Leigh
+/+ 3 1 c.9del p.(Trp4Glyfs*202) r.(?) P-19fsX202; FH Dallas-1, P-19fsX203; FH Dallas-1 - signal peptide - - - - <2% LDLR activity when Htz with unknown FH allele ACGS pathogenic g.11200233del g.11089557del c.9delC - LDLR_001899 predicted trucated protein; Produces 8.7kb mRNA; Reported as 7delC (old nomenclature), 2 more items PubMed: Hobbs 1992, PubMed: Mozas 2004 - - Germline - - - - - Sarah Leigh
+/+ 3 1 c.11G>A p.(Trp4*) r.(?) W-18X; FH Columbia-1 - signal peptide - - - - <2% LDLR activity in Hmz ACGS pathogenic g.11200235G>A g.11089559G>A - - LDLR_001492 prediction no protein PubMed: Cenarro 1998, PubMed: Hobbs 1992, PubMed: Robles-Osorio 2006 - - Germline - not in ExAC, August 2015 - - - Sarah Leigh
+/+ 3 1 c.12G>A p.(Trp4*) r.(?) W-18X ; FH Nanjing-1 - signal peptide - - - - <2% LDLR activity when Htz with c.2012delC, p.(Leu672*), FH Nanjing-2 ACGS pathogenic g.11200236G>A g.11089560G>A - - LDLR_000357 prediction no protein, 1 more item PubMed: Cenarro 1998, PubMed: Hobbs 1992, PubMed: Robles-Osorio 2006 - - Germline - not in ExAC, August 2015 - - - Sarah Leigh
+?/+? 1 1 c.28T>A p.(Trp10Arg) r.(?) W-12R; FH Enna polymorphism signal peptide PPII HumDiv possibly damaging, 0.836; HumVar possibly damaging, 0.549 Not tolerated; SIFT2 Not tolerated 0.114; (Ch, Rh, B, M, Ra, H, Ck) - 40% LDLR activity in fibroblasts of de novo Htz ACGS likely pathogenic g.11200252T>A g.11089576T>A - - LDLR_001681 1 more item PubMed: Cassanelli 1998 - - Germline - not in ExAC, May 2015 - - - Sarah Leigh
+/., +?/+?, +?/. 3 1 c.28T>C p.(Trp10Arg) r.(?) W-12R polymorphism signal peptide PPII HumDiv possibly damaging, 0.836; HumVar possibly damaging, 0.549 Not tolerated; SIFT2 Not tolerated 0.114; (Ch, Rh, B, M, Ra, H, Ck) - reduced LDLR activity ACGS pathogenic, likely pathogenic g.11200252T>C g.11089576T>C LDLR(NM_000527.4):c.28T>C (p.W10R) - LDLR_000260 VKGL data sharing initiative Nederland, 1 more item PubMed: Fouchier 2005 - - CLASSIFICATION record, Germline - not in ExAC, May 2015 - - - VKGL-NL_Groningen, Sarah Leigh, VKGL-NL_AMC
+/+ 1 1 c.28_38del p.(Trp10Leufs*38) r.(?) p.(Trp-12Leufs*38) - signal peptide - - - - - ACGS pathogenic g.11200252_11200262del g.11089576_11089586del - - LDLR_001677 predicted trucated protein; 11bp deletion of CTGGACCGTCG PubMed: Guardamagna 2009 - - Germline - not in ExAC, September 2015 - - - Sarah Leigh
+/. 1 - c.29G>A p.(Trp10Ter) r.(?) - - - - - - - - - pathogenic g.11200253G>A g.11089577G>A LDLR(NM_000527.4):c.29G>A (p.W10*) - LDLR_002043 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
+/+ 1 1 c.33_36dup p.(Ala13Argfs*40) r.(?) p.(Ala-9Argfs*40) - signal peptide - - - - - ACGS pathogenic g.11200257_11200260dup g.11089581_11089584dup c.33_36dupCGTC - LDLR_001703 prediction truncated protein PubMed: Alonso 2009 - - Germline - not in ExAC, September 2015 - - - Sarah Leigh
-?/. 1 - c.38C>T p.(Ala13Val) r.(?) - - - - - - - - - likely benign g.11200262C>T g.11089586C>T LDLR(NM_000527.4):c.38C>T (p.A13V) - LDLR_001928 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
+/+ 1 1 c.41del p.(Leu14Cysfs*192) r.(?) p.(Leu-8Cysfs*192) - signal peptide - - - - - ACGS pathogenic g.11200265del g.11089589del c.41delT - LDLR_000011 prediction truncated protein PubMed: Whittall 2010 - - Germline - - - - - Sarah Leigh
+/+, +/. 2 1 c.41dup p.(Leu14Phefs*38), p.(Leu14PhefsTer38) r.(?) L-8FfsX38 - signal peptide - - - - - ACGS pathogenic g.11200265dup g.11089589dup c.41_42insT, LDLR(NM_000527.4):c.41dupT (p.L14Ffs*38) - LDLR_001132 prediction truncated protein, VKGL data sharing initiative Nederland PubMed: Sozen 2005 - - Germline, CLASSIFICATION record - - - - - Sarah Leigh, VKGL-NL_AMC
-?/. 1 - c.42G>T p.(Leu14Phe) r.(?) - - - - - - - - - likely benign g.11200266G>T g.11089590G>T LDLR(NM_000527.4):c.42G>T (p.L14F) - LDLR_001929 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
+?/+? 1 1 c.44T>A p.(Leu15His) r.(?) L-7P disease causing signal peptide PPII HumDiv probably damaging 0.992; HumVar possibly damaging, 0.770 Not tolerated; SIFT2 Not tolerated 0.174; (Ch, Rh, B, M, Ra, H, Rb, X, S) - - ACGS likely pathogenic g.11200268T>A g.11089592T>A - - LDLR_001736 - PubMed: Leren 2004 - - Germline - not in ExAC, March 2016 - - - Sarah Leigh
?/? 1 1 c.44T>C p.(Leu15Pro) r.(?) L-7P disease causing signal peptide PPII HumDiv benign, 0.005; HumVar benign, 0.009 Not tolerated; SIFT2 Tolerated 0.174; (Ch, Rh, B, M, Ra, H, Rb, X, S) - - ACGS VUS g.11200268T>C g.11089592T>C - - LDLR_001011 - PubMed: Lind 2002 - - Germline - not in ExAC, May 2015 - - - Sarah Leigh
+?/+? 1 1 c.47T>C p.(Leu16Pro) r.(?) L-6P disease causing signal peptide PPII HumDiv possibly damaging, 0.940; HumVar possibly damaging, 0.713 Tolerated; SIFT2 Not tolerated 0.152; (Ch, Rh, D, M, Ra, H, Z) - - ACGS likely pathogenic g.11200271T>C g.11089595T>C - - LDLR_001743 - PubMed: Alonso 2009 - - Germline - not in ExAC, August 2015 - - - Sarah Leigh
-/- 1 1 c.48C>A p.(=) r.(=) L-6L - signal peptide - - Ch, Rh, D, M, Ra, H, Z - - ACGS benign g.11200272C>A g.11089596C>A - - LDLR_001205 predicted silent; p.(Leu16=) Rare variant PubMed: Ekstrom 1995 - rs565675103 Germline - 0.00001880 (ExAC May 2015) - - - Sarah Leigh
?/? 1 1 c.56C>A p.(Ala19Glu) r.(?) A-3E polymorphism signal peptide PPII HumDiv possibly damaging, 0.646; HumVar benign, 0.183 Not tolerated; SIFT2 Not tolerated 0.196; (Ch, Rh, M, Ra, H, Rb) - - ACGS VUS g.11200280C>A g.11089604C>A - - LDLR_000401 - PubMed: Shin 2000 - - Germline - not in ExAC, May 2015 - - - Sarah Leigh
?/-? 1 1 c.56C>T p.(Ala19Val) r.(?) A-3V polymorphism signal peptide PPII HumDiv benign, 0.013; HumVar benign, 0.003 Not tolerated; SIFT2 Not tolerated 0.196; (Ch, Rh, M, Ra, H, Rb) - - ACGS VUS g.11200280C>T g.11089604C>T - - LDLR_000012 - PubMed: Usifo 2012 - - Germline - not in ExAC, May 2015 - - - Sarah Leigh
-?/-?, -?/+?, -?/?, -?/. 11 1 c.58G>A p.(Gly20Arg) r.(?) G-2R polymorphism signal peptide PPII HumDiv benign, 0.12; HumVar benign, 0.099 Tolerated; SIFT2 Tolerated 0.186; (Ch, M, Ra, H, Rb) - - ACGS likely benign g.11200282G>A g.11089606G>A LDLR(NM_000527.4):c.58G>A (p.G20R) - LDLR_000013 Non-polar>Charged(+)-polar, VKGL data sharing initiative Nederland, 1 more item PubMed: Amsellem 2002, PubMed: Laurie 2004, PubMed: Sozen 2005, PubMed: Fouchier 2005, 6 more items - rs147509697 Germline, CLASSIFICATION record - 0.001046 ExAC, May 2015, 1 more item - - - Sarah Leigh, VKGL-NL_AMC
+/+ 1 1 c.64del p.(Ala22Glnfs*184) r.(?) p.(Ala1Glnfs*184) - - - - - - - ACGS pathogenic g.11200288del g.11089612del c.64delG - LDLR_001786 predicted trucated protein; Segregation reported in affected family members in this article PubMed: Chiou 2012 - - Germline - - - - - Sarah Leigh
+?/+? 1 1i c.67+2T>A p.? r.spl - - Intron 1 - - - - - ACGS likely pathogenic g.11200293T>A g.11089617T>A - - LDLR_000877 - PubMed: Amsellem 2002 - - Germline - not in ExAC, June 2015 - - - Sarah Leigh
-/. 1 - c.67+18C>A p.(=) r.(=) - - - - - - - - - benign g.11200309C>A g.11089633C>A LDLR(NM_000527.4):c.67+18C>A - LDLR_001930 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
?/. 1 - c.67+121C>T p.(=) r.(=) - - - - - - - - - VUS g.11200412C>T g.11089736C>T LDLR(NM_000527.4):c.67+121C>T - LDLR_002044 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. 1 - c.67+184C>G p.(=) r.(=) - - - - - - - - - likely benign g.11200475C>G - LDLR(NM_000527.4):c.67+184C>G - LDLR_002241 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/. 1 - c.67+223C>T p.(=) r.(=) - - - - - - - - - benign g.11200514C>T g.11089838C>T LDLR(NM_000527.4):c.67+223C>T - LDLR_002045 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/. 1 - c.67+1700del p.(=) r.(=) - - - - - - - - - benign g.11201991del - LDLR(NM_000527.4):c.67+1700delT - LDLR_002222 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/. 1 - c.67+1907del p.(=) r.(=) - - - - - - - - - benign g.11202198del - LDLR(NM_000527.4):c.67+1907delC - LDLR_002223 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/., -/- 2 1i c.67+2015G>T p.(=) r.(=) - - Intron 1 - - - - - ACGS benign g.11202306G>T g.11091630G>T LDLR(NM_000527.4):c.67+2015G>T - LDLR_001800 VKGL data sharing initiative Nederland, 1 more item PubMed: Miljkovic J Lipid Res. 2010 - rs6511720 CLASSIFICATION record, Germline - T=0.0917/459, 1000 genomes - - - VKGL-NL_AMC, Sarah Leigh
-?/. 1 - c.67+2225G>C p.(=) r.(=) - - - - - - - - - likely benign g.11202516G>C - LDLR(NM_000527.4):c.67+2225G>C - LDLR_002242 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
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