Unique variants in the LRP5 gene

Information The variants shown are described using the NM_002335.3 transcript reference sequence.

305 entries on 4 pages. Showing entries 1 - 100.
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Effect     

Reported     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

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 - c.1A>T r.(?) p.(Met1?) - likely pathogenic g.68080183A>T - - - LRP5_000284 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/. 2 1 c.29G>A r.(?) p.(Trp10*) - pathogenic g.68080211G>A g.68312743G>A - - LRP5_000001 0/50 controls PubMed: Gong 2001, OMIM:var0001, PubMed: Ai 2005 - - Germline - 1/37 - - - Johan den Dunnen
-?/. 1 - c.51G>A r.(?) p.(Leu17=) - likely benign g.68080233G>A g.68312765G>A LRP5(NM_002335.3):c.51G>A (p.L17=) - LRP5_000130 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/., -?/. 2 1 c.52_60del r.(?) p.(Leu18_Leu20del) - benign, likely benign g.68080234_68080242del g.68312766_68312774del LRP5(NM_002335.3):c.52_60delCTGCTGCTG (p.L18_L20del) - LRP5_000059, LRP5_000131 control chromosomes, VKGL data sharing initiative Nederland PubMed: Van Wesenbeeck 2003 - - CLASSIFICATION record, Germline - 0.01 - - - Johan den Dunnen, VKGL-NL_VUmc
-?/. 1 - c.55_60del r.(?) p.(Leu19_Leu20del) - likely benign g.68080237_68080242del g.68312769_68312774del 55_60delCTGCTG - LRP5_000311 not in 346 control alleles PubMed: Seo 2015 - - Germline - 1/51 patients - - - -
-?/. 2 - c.58_60del r.(?) p.(Leu20del) - likely benign g.68080240_68080242del g.68312772_68312774del LRP5(NM_002335.2):c.33_35del (p.(Leu20del)), LRP5(NM_002335.3):c.58_60delCTG (p.L20del) - LRP5_000132 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden, VKGL-NL_VUmc
-/., ?/. 3 - c.58_60dup r.(?) p.(Leu20dup) - benign, VUS g.68080240_68080242dup g.68312772_68312774dup 58_60dupCTG, 1 more item - LRP5_000133 VKGL data sharing initiative Nederland PubMed: Seo 2015 - - CLASSIFICATION record, Germline - 3/340 control alleles - - - VKGL-NL_Leiden, VKGL-NL_VUmc
-/. 1 1 c.60_61dup r.(?) p.(Ala21Glyfs*63) - benign g.68080242_68080243dup g.68312774_68312775dup - - LRP5_000060 control chromosomes PubMed: Van Wesenbeeck 2003 - - Germline - 0.05 - - - Johan den Dunnen
+/. 1 1 c.85G>A r.(?) p.(Ala29Thr) - pathogenic g.68080267G>A g.68312799G>A - - LRP5_000118 0/246 controls Hartikka 2005 - - Germline - 1/20 - - - Frans Cremers
-?/. 2 - c.91+9G>C r.(=) p.(=) - likely benign g.68080282G>C g.68312814G>C LRP5(NM_001291902.1):c.-1675+9G>C, LRP5(NM_001291902.2):c.-1675+9G>C - LRP5_000134 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_AMC
+?/. 1 1i c.91+10563A>T r.(=) p.(=) - likely pathogenic g.68090836A>T g.68323368A>T IVS1a>g - LRP5_000068 association with BMD hip/spine (F) PubMed: Koller 2005 - rs514529 Germline - - - - - Johan den Dunnen
+/. 1 - c.92-2A>C r.spl p.? - pathogenic g.68115313A>C g.68347845A>C - - LRP5_000292 - PubMed: Tang 2017 - - Germline - - - - - -
?/. 1 - c.121C>T r.(?) p.(Arg41Trp) - VUS g.68115344C>T g.68347876C>T - - LRP5_000308 - PubMed: Ellingford 2016 - - Germline - - - - - -
?/. 1 - c.130C>T r.(?) p.(Arg44Trp) - VUS g.68115353C>T g.68347885C>T LRP5(NM_002335.3):c.130C>T (p.R44W) - LRP5_000135 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/., -?/. 2 - c.141C>T r.(?) p.(Asp47=) - benign, likely benign g.68115364C>T g.68347896C>T LRP5(NM_002335.3):c.141C>T (p.D47=) - LRP5_000136 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_AMC
-?/., ?/. 2 - c.164C>T r.(?) p.(Ser55Phe) - likely benign, VUS g.68115387C>T g.68347919C>T LRP5(NM_002335.3):c.164C>T (p.S55F) - LRP5_000137 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Nijmegen
+/. 1 2 c.209_210delinsAA r.(?) p.(Phe70*) - pathogenic g.68115432_68115433delinsAA g.68347964_68347965delinsAA 209_210TC>AA - LRP5_000085 - PubMed: Ai 2005 - - Germline - 1/37 - - - Frans Cremers
+?/. 1 - c.235T>C r.(?) p.(Trp79Arg) - likely pathogenic g.68115458T>C g.68347990T>C T235C - LRP5_000302 - PubMed: Keser 2017 - - Germline yes - - - - -
+?/. 1 - c.260T>G r.(?) p.(Ile87Ser) - likely pathogenic (dominant) g.68115483T>G g.68348015T>G - - LRP5_000291 - PubMed: Lin 2018 - - Germline yes - - - - Johan den Dunnen
-/., -?/. 7 2 c.266A>G r.(?) p.(Gln89Arg) - benign, likely benign, VUS g.68115489A>G, g.68348021A>G g.68115489A>G, g.68348021A>G 314A>G, LRP5(NM_002335.3):c.266A>G (p.Q89R) - LRP5_000031 not found in control chromosomes, VKGL data sharing initiative Nederland PubMed: Lin 2018, PubMed: Okubo 2002, PubMed: Van Wesenbeeck 2003, PubMed: Zhang 2019 - rs41494349 CLASSIFICATION record, Germline, Germline/De novo (untested) no 28/344 control chromosomes, 7/29 - - - Johan den Dunnen, VKGL-NL_VUmc, Jasmine Chen
-?/. 2 - c.291C>T r.(?) p.(Ala97=) - likely benign g.68115514C>T g.68348046C>T LRP5(NM_002335.3):c.291C>T (p.A97=) - LRP5_000138 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Nijmegen
-/. 1 2 c.324C>G r.(?) p.(=) - benign g.68115547C>G g.68348079C>G V108V - LRP5_000032 - PubMed: Toomes 2004 - - Germline - 0.02 - - - Johan den Dunnen
+/. 1 2 c.331G>T r.(?) p.(Asp111Tyr) - pathogenic g.68115554G>T g.68348086G>T - - LRP5_000034 0/100 control chromosomes PubMed: Van Wesenbeeck 2003 - - Germline - 1/10 - - - Johan den Dunnen
-/. 1 2 c.333C>T r.(?) p.(=) - benign g.68115556C>T g.68348088C>T D111D - LRP5_000035 not found in control chromosomes PubMed: Van Wesenbeeck 2003 - - Germline - - - - - Johan den Dunnen
-?/. 1 - c.375G>A r.(?) p.(Thr125=) - likely benign g.68115598G>A g.68348130G>A LRP5(NM_002335.3):c.375G>A (p.T125=) - LRP5_000139 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
?/. 1 - c.394A>G r.(?) p.(Iso132Val) - VUS g.68115617A>G g.68348149A>G - - LRP5_000258 - PubMed: Liu 2017 - - Germline ? - - - - Jasmine Chen
?/. 1 - c.407A>G r.(?) p.(Asn136Ser) - VUS g.68115630A>G g.68348162A>G LRP5(NM_002335.2):c.407A>G (p.(Asn136Ser)) - LRP5_000140 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+/. 1 - c.425G>A r.(?) p.(Arg142Gln) - pathogenic g.68115648G>A g.68348180G>A G425A - LRP5_000303 - PubMed: Keser 2017 - - Germline - - - - - -
+/. 3 2 c.433C>T r.(?) p.(Leu145Phe) - pathogenic g.68115656C>T g.68348188C>T - - LRP5_000045 0/362 controls PubMed: Qin 2005, OMIM:var0025 - - Germline - 1/56 - - - Johan den Dunnen
-/. 2 - c.459G>A r.(?) p.(Pro153=) - benign g.68115682G>A g.68348214G>A LRP5(NM_002335.3):c.459G>A (p.P153=) - LRP5_000141 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_AMC
+/. 1 2 c.461G>T r.(?) p.(Arg154Met) - pathogenic g.68115684G>T g.68348216G>T - - LRP5_000124 1/544 controls Rickels 2005 - - Germline - 1/1 - - - Frans Cremers
-/. 1 2i c.488+53C>T r.(?) p.(=) - benign g.68115764C>T g.68348296C>T - - LRP5_000056 - PubMed: Toomes 2004 - - Germline - 0.52 - - - Johan den Dunnen
-?/. 1 - c.488+216T>G r.(=) p.(=) - likely benign g.68115927T>G - LRP5(NM_002335.3):c.488+216T>G - LRP5_000285 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
+/. 1 3 c.511G>C r.(?) p.(Gly171Arg) - pathogenic g.68125140G>C g.68357672G>C - - LRP5_000057 0/100 controls PubMed: Van Wesenbeeck 2003, OMIM:var0014 - - Germline - 1/10 - - - Johan den Dunnen
+/. 2 3 c.511G>T r.(?) p.(Gly171Cys) - pathogenic g.68125140G>T g.68357672G>T - - LRP5_000013 0/420 controls, not in 2000 control chromosomes PubMed: Boyden 2002, OMIM:var0013, PubMed: Little 2002, OMIM:var0013 - - Germline - - - - - Johan den Dunnen
+/., +?/. 2 3 c.518C>T r.(?) p.(Thr173Met) - likely pathogenic, pathogenic g.68125147C>T g.68357679C>T - - LRP5_000058 0/400 controls, not well conserved evolutionarily PubMed: Toomes 2004 - - Germline, Germline/De novo (untested) ? 0/400 control chromosomes, 1/32 - - - Johan den Dunnen, Jasmine Chen
+/. 1 3 c.607G>A r.(?) p.(Asp203Asn) - pathogenic g.68125236G>A g.68357768G>A - - LRP5_000092 - PubMed: Ai 2005 - - Germline - 1/32 - - - Frans Cremers
-?/. 1 - c.612G>A r.(?) p.(Leu204=) - likely benign g.68125241G>A g.68357773G>A LRP5(NM_002335.3):c.612G>A (p.L204=) - LRP5_000142 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/., -?/. 2 3 c.639C>T r.(?) p.(=), p.(Asp213=) - benign, likely benign g.68125268C>T g.68357800C>T D213D, LRP5(NM_002335.3):c.639C>T (p.D213=) - LRP5_000061 VKGL data sharing initiative Nederland PubMed: Toomes 2004 - - CLASSIFICATION record, Germline - 0.02 - - - Johan den Dunnen, VKGL-NL_Rotterdam
+/. 1 3 c.640G>A r.(?) p.(Ala214Thr) - pathogenic g.68125269G>A g.68357801G>A - - LRP5_000062 0/100 controls PubMed: Van Wesenbeeck 2003, OMIM:var0016 - - Germline - 1/10 - - - Johan den Dunnen
+/. 1 3 c.641C>T r.(?) p.(Ala214Val) - pathogenic g.68125270C>T g.68357802C>T - - LRP5_000063 0/100 controls PubMed: Van Wesenbeeck 2003, OMIM:var0017 - - Germline - 1/10 - - - Johan den Dunnen
-/., -?/. 2 - c.675C>T r.(?) p.(Asp225=) - benign, likely benign g.68125304C>T g.68357836C>T LRP5(NM_002335.3):c.675C>T (p.D225=) - LRP5_000143 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_AMC
?/. 1 - c.680C>T r.(?) p.(Ser227Leu) - VUS g.68125309C>T - LRP5(NM_002335.3):c.680C>T (p.S227L) - LRP5_000281 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
+?/. 1 - c.685C>T r.(?) p.(Arg229Trp) - likely pathogenic g.68125314C>T g.68357846C>T - - LRP5_000312 - PubMed: Patel 2016 - - Germline - - - - - -
-/. 1 3i c.686+61C>T r.(?) p.(=) - benign g.68125376C>T g.68357908C>T - - LRP5_000064 - PubMed: Toomes 2004 - - Germline - 0.01 - - - Johan den Dunnen
-/., -?/. 4 - c.687-8G>A r.(=) p.(=) - benign, likely benign g.68131207G>A g.68363739G>A 1 more item - LRP5_000144 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden, VKGL-NL_Rotterdam, VKGL-NL_VUmc, VKGL-NL_AMC
?/. 1 - c.713C>T r.(?) p.(Thr238Met) - VUS g.68131241C>T - LRP5(NM_002335.3):c.713C>T (p.T238M) - LRP5_000280 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. 1 - c.723C>T r.(?) p.(Phe241=) - benign g.68131251C>T g.68363783C>T LRP5(NM_002335.3):c.723C>T (p.F241=) - LRP5_000145 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
+/. 4 4 c.724G>A r.(?) p.(Ala242Thr) - pathogenic g.68131252G>A g.68363784G>A - - LRP5_000065 0/100 controls PubMed: Van Wesenbeeck 2003, OMIM:var0015 - - Germline - 4/10 - - - Johan den Dunnen
-?/. 1 - c.729G>C r.(?) p.(Leu243=) - likely benign g.68131257G>C g.68363789G>C LRP5(NM_002335.3):c.729G>C (p.L243=) - LRP5_000247 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
+?/. 1 - c.731C>G r.(?) p.(Thr244Arg) - likely pathogenic (dominant) g.68131259C>G g.68363791C>G - - LRP5_000313 not in 348 control alleles PubMed: Seo 2015 - - Germline - - - - - -
+/. 2 4 c.731C>T r.(?), r.spl p.(Thr244Met) - pathogenic g.68131259C>T g.68363791C>T - - LRP5_000101 - PubMed: Ai 2005 - - Germline - 1/37 - - - Frans Cremers
+/. 1 - c.748_749del r.(?) p.(Leu250Valfs*50) - pathogenic g.68131276_68131277del g.68363808_68363809del 746_747delCT - LRP5_000300 - PubMed: Huang 2017 - - Germline - - - - - -
?/. 1 - c.749T>C r.(?) p.(Leu250Pro) - VUS g.68131277T>C g.68363809T>C LRP5(NM_002335.3):c.749T>C (p.L250P) - LRP5_000146 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
+/. 2 4 c.758C>T r.(?) p.(Thr253Ile) - pathogenic g.68131286C>T g.68363818C>T - - LRP5_000066 0/100 controls PubMed: Van Wesenbeeck 2003, OMIM:var0018 - - Germline - 2/10 - - - Johan den Dunnen
+/. 2 4 c.765G>A r.(?) p.(Trp255*) - pathogenic g.68131293G>A g.68363825G>A - - LRP5_000105 - PubMed: Ai 2005 - - Germline - 1/37 - - - Frans Cremers
?/. 1 - c.772C>T r.(?) p.(Arg258Cys) - VUS g.68131300C>T g.68363832C>T LRP5(NM_002335.2):c.772C>T (p.(Arg258Cys)) - LRP5_000147 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+/. 1 4 c.789C>A r.(?) p.(Cys263*) - pathogenic g.68131317C>A g.68363849C>A - - LRP5_000106 - PubMed: Ai 2005 - - Germline - 1/37 - - - Frans Cremers
+/. 1 4 c.804_813del r.(?) p.(Gly269Argfs*4) - pathogenic g.68131332_68131341del g.68363864_68363873del 803_812del - LRP5_000067 0/362 controls PubMed: Qin 2005, OMIM:var0028 - - Germline - 1/56 - - - Johan den Dunnen
?/. 1 - c.805G>T r.(?) p.(Gly269Trp) - VUS g.68131333G>T g.68363865G>T - - LRP5_000317 - PubMed: Xu 2015 - - Germline - 1/314 cases - - - Johan den Dunnen
+/. 1 4 c.844A>G r.(?) p.(Met282Val) - pathogenic g.68131372A>G g.68363904A>G - - LRP5_000111 0/100 controls Balemans 2007 - - Germline - 1/1 - - - Frans Cremers
-/. 3 - c.884-4T>C r.spl? p.? - benign g.68133035T>C g.68365567T>C LRP5(NM_001291902.1):c.-882-4T>C, LRP5(NM_002335.3):c.884-4T>C - LRP5_000148 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Nijmegen, VKGL-NL_VUmc
+/. 1 - c.889dup r.(?) p.(Thr297Asnfs*3) - likely pathogenic g.68133044dup g.68365576dup 889dupA - LRP5_000259 complex heterozygous PubMed: Welinder 2015 - - Germline yes - - - - Jasmine Chen
+/. 2 5 c.920C>T r.(?) p.(Ser307Phe) - pathogenic g.68133075C>T g.68365607C>T - - LRP5_000107 - PubMed: Ai 2005 - - Germline - 1/37 - - - Frans Cremers
-/. 1 - c.963C>T r.(?) p.(Cys321=) - benign g.68133118C>T g.68365650C>T LRP5(NM_002335.3):c.963C>T (p.C321=) - LRP5_000149 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
+/. 2 5 c.1000_1004dup r.(?) p.(Cys336Glyfs*50) - pathogenic g.68133155_68133159dup g.68365687_68365691dup - - LRP5_000108 - PubMed: Ai 2005 - - Germline - 1/37 - - - Frans Cremers
?/. 1 - c.1007G>A r.(?) p.(Cys336Tyr) - VUS g.68133162G>A g.68365694G>A LRP5(NM_002335.2):c.1007G>A (p.(Cys336Tyr)) - LRP5_000150 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-/. 1 - c.1016-19A>G r.(=) p.(=) - benign g.68153765A>G g.68386297A>G LRP5(NM_001291902.2):c.-750-19A>G - LRP5_000151 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
?/. 1 - c.1034T>A r.(?) p.(Leu345Gln) - VUS g.68153802T>A g.68386334T>A - - LRP5_000309 - PubMed: Ellingford 2016 - - Germline - - - - - -
+/. 2 6 c.1042C>T r.(?) p.(Arg348Trp) - pathogenic, pathogenic (dominant) g.68153810C>T g.68386342C>T - - LRP5_000109 - PubMed: Ai 2005, PubMed: Zhang 2016 - - Germline yes 0/200 control alleles, 1/37 - - - Frans Cremers, Jasmine Chen
+/. 3 6 c.1058G>A r.(?) p.(Arg353Gln) - pathogenic g.68153826G>A g.68386358G>A - - LRP5_000074 - PubMed: Ai 2005, PubMed: Tang 2017 - - Germline - 1/37 - - - Frans Cremers
+/. 2 6 c.1067C>T r.(?) p.(Ser356Leu) - pathogenic g.68153835C>T g.68386367C>T - - LRP5_000104 0/390 controls Crabbe 2005, PubMed: Ai 2005 - - Germline - 1/37, 1/66 - - - Frans Cremers
-/. 1 - c.1077G>A r.(?) p.(Thr359=) - benign g.68153845G>A g.68386377G>A LRP5(NM_002335.3):c.1077G>A (p.T359=) - LRP5_000152 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. 1 - c.1111G>A r.(?) p.(Asp371Asn) - likely benign g.68153879G>A g.68386411G>A LRP5(NM_002335.3):c.1111G>A (p.D371N) - LRP5_000153 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
+/. 1 6 c.1141G>A r.(?) p.(Asp381Asn) - pathogenic (dominant) g.68153909G>A g.68386441G>A - - LRP5_000260 - PubMed: Zhang 2016 - - Germline yes 0/200 control alleles - - - Jasmine Chen
+/. 1 6 c.1169C>A r.(?) p.(Thr390Lys) - pathogenic g.68153937C>A g.68386469C>A - - LRP5_000075 unknown variant 2nd chromosome PubMed: Ai 2005 - - Germline - 1/37 - - - Frans Cremers
-?/. 1 - c.1176C>T r.(?) p.(Asp392=) - likely benign g.68153944C>T g.68386476C>T LRP5(NM_002335.3):c.1176C>T (p.D392=) - LRP5_000154 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. 1 - c.1183C>T r.(?) p.(Arg395Trp) - pathogenic g.68153951C>T g.68386483C>T - - LRP5_000293 - PubMed: Tang 2017 - - Germline - - - - - -
+/. 1 - c.1197G>T r.(?) p.(Arg399Ser) - pathogenic (dominant) g.68153965G>T g.68386497G>T - - LRP5_000261 - PubMed: Liu 2017 - - Germline yes - - - - Jasmine Chen
+/. 1 6 c.1199C>A r.(?) p.(Ala400Glu) - pathogenic g.68153967C>A g.68386499C>A - - LRP5_000091 - PubMed: Ai 2005 - - Germline - 1/37 - - - Frans Cremers
-/. 1 - c.1200G>A r.(?) p.(Ala400=) - benign g.68153968G>A g.68386500G>A LRP5(NM_002335.3):c.1200G>A (p.A400=) - LRP5_000156 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
+/. 1 - c.1203C>G r.(?) p.(Tyr401Ter) - pathogenic g.68153971C>G g.68386503C>G - - LRP5_000157 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/. 1 6 c.1210G>A r.(?) p.(Gly404Arg) - pathogenic g.68153978G>A g.68386510G>A - - LRP5_000076 - PubMed: Ai 2005 - - Germline - 1/37 - - - Frans Cremers
+/. 1 6 c.1225A>G r.(?) p.(Thr409Ala) - pathogenic g.68153993A>G g.68386525A>G - - LRP5_000078 - Streeten 2008 - - Germline - 1/3 - - - Frans Cremers
-?/. 1 - c.1248C>T r.(?) p.(Asn416=) - likely benign g.68154016C>T g.68386548C>T LRP5(NM_002335.3):c.1248C>T (p.N416=) - LRP5_000158 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. 1 - c.1264G>A r.(?) p.(Ala422Thr) - likely pathogenic (dominant) g.68154032G>A g.68386564G>A - - LRP5_000257 - PubMed: Fei 2014 - - Germline yes - - - - Jasmine Chen
+/. 3 6 c.1275G>A r.(?) p.(Trp425*) - pathogenic g.68154043G>A g.68386575G>A - - LRP5_000079 - Streeten 2008 - - Germline - 3/3 - - - Frans Cremers
+/. 2 6 c.1282C>T r.(?) p.(Arg428*) - pathogenic g.68154050C>T g.68386582C>T - - LRP5_000002 - PubMed: Gong 2001, OMIM:var0002, PubMed: Ai 2005 - - Germline - 1/37 - - - Johan den Dunnen
+/. 2 6 c.1300G>A r.(?) p.(Asp434Asn) - pathogenic g.68154068G>A g.68386600G>A G1300A - LRP5_000080 - PubMed: Ai 2005, PubMed: Keser 2017 - - Germline yes 1/37 - - - Frans Cremers
+/. 1 - c.1318A>T r.(?) p.(Ile440Phe) - pathogenic g.68154086A>T g.68386618A>T - - LRP5_000294 - PubMed: Tang 2017 - - Germline - - - - - -
+/., +?/. 2 6 c.1321G>A r.(?) p.(Glu441Lys) - likely pathogenic, pathogenic g.68154089G>A g.68386621G>A - - LRP5_000069 0/100 control chromosomes, VKGL data sharing initiative Nederland PubMed: Nikopoulos 2010 - - CLASSIFICATION record, Germline - 1/16 - - - Frans Cremers, VKGL-NL_Nijmegen
+/., +?/. 2 6 c.1330C>T r.(?) p.(Arg444Cys) - likely pathogenic (dominant), pathogenic g.68154098C>T g.68386630C>T - - LRP5_000014 digenic inheritance, carry heterozygous FZD4:p.(R417Q); not in 362 control chromosome, 1 more item PubMed: Qin 2005, OMIM:var0026, PubMed: Kondo 2003, OMIM:var0003, PubMed: Seo 2015 - - Germline - - - - - Johan den Dunnen
-?/. 1 - c.1338C>T r.(?) p.(Asn446=) - likely benign g.68154106C>T g.68386638C>T LRP5(NM_002335.3):c.1338C>T (p.N446=) - LRP5_000159 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. 1 6 c.1364C>T r.(?) p.(Ser455Leu) - pathogenic g.68154132C>T g.68386664C>T - - LRP5_000114 0/390 controls Crabbe 2005 - - Germline - 1/66 - - - Frans Cremers
-?/. 1 - c.1365G>A r.(?) p.(Ser455=) - likely benign g.68154133G>A g.68386665G>A LRP5(NM_002335.3):c.1365G>A (p.S455=) - LRP5_000160 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. 1 6 c.1378G>A r.(?) p.(Glu460Lys) - pathogenic g.68154146G>A g.68386678G>A - - LRP5_000084 - PubMed: Ai 2005 - - Germline - 1/32 - - - Frans Cremers
-?/. 1 - c.1395A>C r.(?) p.(Ala465=) - likely benign g.68154163A>C g.68386695A>C LRP5(NM_002335.3):c.1395A>C (p.=) - LRP5_000248 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/. 2 - c.1412+8G>A r.(=) p.(=) - benign g.68154188G>A g.68386720G>A LRP5(NM_002335.3):c.1412+8G>A - LRP5_000161 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen, VKGL-NL_VUmc
-?/. 1 - c.1412+21_1412+27dup r.(=) p.(=) - likely benign g.68154201_68154207dup g.68386733_68386739dup LRP5(NM_002335.3):c.1412+18_1412+24dupTGGGGCC - LRP5_000162 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
-/., -?/. 3 - c.1413-7T>A r.(=) p.(=) - benign, likely benign g.68157342T>A g.68389874T>A LRP5(NM_001291902.2):c.-354+3162T>A, LRP5(NM_002335.2):c.1413-7T>A (p.(=)) - LRP5_000163 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden, VKGL-NL_Nijmegen, VKGL-NL_AMC
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