All variants in the LRP5 gene

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

484 entries on 5 pages. Showing entries 1 - 100.
Legend   How to query   « First ‹ Prev     1 2 3 4 5     Next › Last »

Effect     

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     
+?/. - c.1A>T r.(?) p.(Met1?) - likely pathogenic g.68080183A>T - - - LRP5_000284 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/. 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 - 0 - Johan den Dunnen
+/. 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 - 0 - Johan den Dunnen
-?/. - 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
-/. 1 c.52_60del r.(?) p.(Leu18_Leu20del) - benign g.68080234_68080242del g.68312766_68312774del - - LRP5_000059 control chromosomes PubMed: Van Wesenbeeck 2003 - - Germline - 0.01 - 0 - Johan den Dunnen
-?/. - c.52_60del r.(?) p.(Leu18_Leu20del) - likely benign g.68080234_68080242del g.68312766_68312774del LRP5(NM_002335.3):c.52_60delCTGCTGCTG (p.L18_L20del) - LRP5_000131 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
-?/. - 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 - 0 - -
-?/. - 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 - - - 0 - VKGL-NL_VUmc
-?/. - 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
?/. - c.58_60dup r.(?) p.(Leu20dup) - VUS g.68080240_68080242dup g.68312772_68312774dup LRP5(NM_002335.2):c.32_33insGCT (p.(Pro11_Leu12insLeu)), LRP5(NM_002335.3):c.58_60dupCTG (p.L20dup) - LRP5_000133 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
-/. - c.58_60dup r.(?) p.(Leu20dup) - benign g.68080240_68080242dup g.68312772_68312774dup LRP5(NM_002335.2):c.32_33insGCT (p.(Pro11_Leu12insLeu)), LRP5(NM_002335.3):c.58_60dupCTG (p.L20dup) - LRP5_000133 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
-/. - c.58_60dup r.(?) p.(Leu20dup) - benign g.68080240_68080242dup g.68312772_68312774dup 58_60dupCTG - LRP5_000133 - PubMed: Seo 2015 - - Germline - 3/340 control alleles - 0 - -
-/. 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 - 0 - Johan den Dunnen
+/. 1 c.85G>A r.(?) p.(Ala29Thr) - pathogenic g.68080267G>A g.68312799G>A - - LRP5_000118 0/246 controls Hartikka 2005 - - Germline - 1/20 - 0 - Frans Cremers
-?/. - 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 - - - 0 - VKGL-NL_Rotterdam
-?/. - 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_AMC
+?/. 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 - - - 0 - Johan den Dunnen
+/. - c.92-2A>C r.spl p.? - pathogenic g.68115313A>C g.68347845A>C - - LRP5_000292 - PubMed: Tang 2017 - - Germline - - - 0 - -
?/. - c.121C>T r.(?) p.(Arg41Trp) - VUS g.68115344C>T g.68347876C>T - - LRP5_000308 - PubMed: Ellingford 2016 - - Germline - - - 0 - -
?/. - 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 - - - 0 - VKGL-NL_Rotterdam
-/. - c.141C>T r.(?) p.(Asp47=) - 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_AMC
-?/. - c.141C>T r.(?) p.(Asp47=) - 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
?/. - c.164C>T r.(?) p.(Ser55Phe) - 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 - - - 0 - VKGL-NL_Rotterdam
-?/. - c.164C>T r.(?) p.(Ser55Phe) - likely benign g.68115387C>T - LRP5(NM_002335.3):c.164C>T (p.S55F) - LRP5_000137 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/. 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 - 0 - Frans Cremers
+?/. - c.235T>C r.(?) p.(Trp79Arg) - likely pathogenic g.68115458T>C g.68347990T>C T235C - LRP5_000302 - PubMed: Keser 2017 - - Germline yes - - 0 - -
+?/. - c.260T>G r.(?) p.(Ile87Ser) - likely pathogenic (dominant) g.68115483T>G g.68348015T>G - - LRP5_000291 - PubMed: Lin 2018 - - Germline yes - - 0 - Johan den Dunnen
-/. 2 c.266A>G r.(?) p.(Gln89Arg) - benign g.68115489A>G g.68348021A>G 314A>G - LRP5_000031 - PubMed: Okubo 2002 - - Germline - - - 0 - Johan den Dunnen
-/. 2 c.266A>G r.(?) p.(Gln89Arg) - benign g.68115489A>G g.68348021A>G 314A>G - LRP5_000031 - PubMed: Okubo 2002 - - Germline - - - 0 - Johan den Dunnen
-/. 2 c.266A>G r.(?) p.(Gln89Arg) - benign g.68115489A>G g.68348021A>G 314A>G - LRP5_000031 - PubMed: Okubo 2002 - - Germline - 28/344 control chromosomes - 0 - Johan den Dunnen
-/. 2 c.266A>G r.(?) p.(Gln89Arg) - benign g.68115489A>G g.68348021A>G - - LRP5_000031 not found in control chromosomes PubMed: Van Wesenbeeck 2003 - - Germline - - - 0 - Johan den Dunnen
-?/. - c.266A>G r.(?) p.(Gln89Arg) - likely benign g.68115489A>G g.68348021A>G LRP5(NM_002335.3):c.266A>G (p.Q89R) - LRP5_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_VUmc
-?/. 2 c.266A>G r.(?) p.(Gln89Arg) - VUS g.68115489A>G g.68348021A>G - - LRP5_000031 - PubMed: Zhang 2019 - - Germline/De novo (untested) - 7/29 - 0 - Jasmine Chen
-/. - c.266A>G r.(?) p.(Gln89Arg) - benign g.68348021A>G g.68115489A>G - - LRP5_000031 - PubMed: Lin 2018 - rs41494349 Germline no - - 0 - Johan den Dunnen
-?/. - 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 - - - 0 - VKGL-NL_Rotterdam
-?/. - 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 - - - 0 - VKGL-NL_Nijmegen
-/. 2 c.324C>G r.(?) p.(=) - benign g.68115547C>G g.68348079C>G V108V - LRP5_000032 - PubMed: Toomes 2004 - - Germline - 0.02 - 0 - Johan den Dunnen
+/. 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 - 0 - Johan den Dunnen
-/. 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 - - - 0 - Johan den Dunnen
-?/. - 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
?/. - c.394A>G r.(?) p.(Iso132Val) - VUS g.68115617A>G g.68348149A>G - - LRP5_000258 - PubMed: Liu 2017 - - Germline ? - - 0 - Jasmine Chen
?/. - 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
+/. - c.425G>A r.(?) p.(Arg142Gln) - pathogenic g.68115648G>A g.68348180G>A G425A - LRP5_000303 - PubMed: Keser 2017 - - Germline - - - 0 - -
+/. 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 - 0 - Johan den Dunnen
+/. 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 - 0 - Johan den Dunnen
+/. 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 - 0 - Johan den Dunnen
-/. - 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 - - - 0 - VKGL-NL_Rotterdam
-/. - 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_AMC
+/. 2 c.461G>T r.(?) p.(Arg154Met) - pathogenic g.68115684G>T g.68348216G>T - - LRP5_000124 1/544 controls Rickels 2005 - - Germline - 1/1 - 0 - Frans Cremers
-/. 2i c.488+53C>T r.(?) p.(=) - benign g.68115764C>T g.68348296C>T - - LRP5_000056 - PubMed: Toomes 2004 - - Germline - 0.52 - 0 - Johan den Dunnen
-?/. - 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
+/. 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 - 0 - Johan den Dunnen
+/. 3 c.511G>T r.(?) p.(Gly171Cys) - pathogenic g.68125140G>T g.68357672G>T - - LRP5_000013 not in 2000 control chromosomes PubMed: Little 2002, OMIM:var0013 - - Germline - - - 0 - Johan den Dunnen
+/. 3 c.511G>T r.(?) p.(Gly171Cys) - pathogenic g.68125140G>T g.68357672G>T - - LRP5_000013 0/420 controls PubMed: Boyden 2002, OMIM:var0013 - - Germline - - - 0 - Johan den Dunnen
+/. 3 c.518C>T r.(?) p.(Thr173Met) - pathogenic g.68125147C>T g.68357679C>T - - LRP5_000058 0/400 controls PubMed: Toomes 2004 - - Germline - 1/32 - 0 - Johan den Dunnen
+?/. 3 c.518C>T r.(?) p.(Thr173Met) - likely pathogenic g.68125147C>T g.68357679C>T - - LRP5_000058 not well conserved evolutionarily PubMed: Toomes 2004 - - Germline/De novo (untested) ? 0/400 control chromosomes - 0 - Jasmine Chen
+/. 3 c.607G>A r.(?) p.(Asp203Asn) - pathogenic g.68125236G>A g.68357768G>A - - LRP5_000092 - PubMed: Ai 2005 - - Germline - 1/32 - 0 - Frans Cremers
-?/. - 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
-/. 3 c.639C>T r.(?) p.(=) - benign g.68125268C>T g.68357800C>T D213D - LRP5_000061 - PubMed: Toomes 2004 - - Germline - 0.02 - 0 - Johan den Dunnen
-?/. - c.639C>T r.(?) p.(Asp213=) - likely benign g.68125268C>T g.68357800C>T LRP5(NM_002335.3):c.639C>T (p.D213=) - LRP5_000061 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
+/. 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 - 0 - Johan den Dunnen
+/. 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 - 0 - Johan den Dunnen
-/. - c.675C>T r.(?) p.(Asp225=) - 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 - - - 0 - VKGL-NL_AMC
-?/. - c.675C>T r.(?) p.(Asp225=) - 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 - - - 0 - VKGL-NL_Rotterdam
?/. - 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
+?/. - c.685C>T r.(?) p.(Arg229Trp) - likely pathogenic g.68125314C>T g.68357846C>T - - LRP5_000312 - PubMed: Patel 2016 - - Germline - - - 0 - -
-/. 3i c.686+61C>T r.(?) p.(=) - benign g.68125376C>T g.68357908C>T - - LRP5_000064 - PubMed: Toomes 2004 - - Germline - 0.01 - 0 - Johan den Dunnen
-/. - c.687-8G>A r.(=) p.(=) - benign g.68131207G>A g.68363739G>A LRP5(NM_001291902.1):c.-1079-8G>A, LRP5(NM_001291902.2):c.-1079-8G>A, LRP5(NM_002335.2):c.687-8G>A (p.(=)), LRP5(NM_002335.3):c.687-8G>A - LRP5_000144 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_AMC
-/. - c.687-8G>A r.(=) p.(=) - benign g.68131207G>A g.68363739G>A LRP5(NM_001291902.1):c.-1079-8G>A, LRP5(NM_001291902.2):c.-1079-8G>A, LRP5(NM_002335.2):c.687-8G>A (p.(=)), LRP5(NM_002335.3):c.687-8G>A - LRP5_000144 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.687-8G>A r.(=) p.(=) - likely benign g.68131207G>A g.68363739G>A LRP5(NM_001291902.1):c.-1079-8G>A, LRP5(NM_001291902.2):c.-1079-8G>A, LRP5(NM_002335.2):c.687-8G>A (p.(=)), LRP5(NM_002335.3):c.687-8G>A - LRP5_000144 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.687-8G>A r.(=) p.(=) - likely benign g.68131207G>A g.68363739G>A LRP5(NM_001291902.1):c.-1079-8G>A, LRP5(NM_001291902.2):c.-1079-8G>A, LRP5(NM_002335.2):c.687-8G>A (p.(=)), LRP5(NM_002335.3):c.687-8G>A - LRP5_000144 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
?/. - 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
-/. - 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 - - - 0 - VKGL-NL_AMC
+/. 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 - 0 - Johan den Dunnen
+/. 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 - 0 - Johan den Dunnen
+/. 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 - 0 - Johan den Dunnen
+/. 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 - 0 - Johan den Dunnen
-?/. - 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
+?/. - 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 - - - 0 - -
+/. 4 c.731C>T r.spl p.(Thr244Met) - pathogenic g.68131259C>T g.68363791C>T - - LRP5_000101 - PubMed: Ai 2005 - - Germline - 1/37 - 0 - Frans Cremers
+/. 4 c.731C>T r.(?) p.(Thr244Met) - pathogenic g.68131259C>T g.68363791C>T - - LRP5_000101 - PubMed: Ai 2005 - - Germline - 1/37 - 0 - Frans Cremers
+/. - c.748_749del r.(?) p.(Leu250Valfs*50) - pathogenic g.68131276_68131277del g.68363808_68363809del 746_747delCT - LRP5_000300 - PubMed: Huang 2017 - - Germline - - - 0 - -
?/. - 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
+/. 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 - 0 - Johan den Dunnen
+/. 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 - 0 - Johan den Dunnen
+/. 4 c.765G>A r.(?) p.(Trp255*) - pathogenic g.68131293G>A g.68363825G>A - - LRP5_000105 - PubMed: Ai 2005 - - Germline - 1/37 - 0 - Frans Cremers
+/. 4 c.765G>A r.(?) p.(Trp255*) - pathogenic g.68131293G>A g.68363825G>A - - LRP5_000105 - PubMed: Ai 2005 - - Germline - 1/37 - 0 - Frans Cremers
?/. - 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
+/. 4 c.789C>A r.(?) p.(Cys263*) - pathogenic g.68131317C>A g.68363849C>A - - LRP5_000106 - PubMed: Ai 2005 - - Germline - 1/37 - 0 - Frans Cremers
+/. 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 - 0 - Johan den Dunnen
?/. - c.805G>T r.(?) p.(Gly269Trp) - VUS g.68131333G>T g.68363865G>T - - LRP5_000317 - PubMed: Xu 2015 - - Germline - 1/314 cases - 0 - Johan den Dunnen
+/. 4 c.844A>G r.(?) p.(Met282Val) - pathogenic g.68131372A>G g.68363904A>G - - LRP5_000111 0/100 controls Balemans 2007 - - Germline - 1/1 - 0 - Frans Cremers
-/. - 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 - - - 0 - VKGL-NL_Nijmegen
-/. - 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_VUmc
-/. - 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
+/. - c.889dup r.(?) p.(Thr297Asnfs*3) - likely pathogenic g.68133044dup g.68365576dup 889dupA - LRP5_000259 complex heterozygous PubMed: Welinder 2015 - - Germline yes - - 0 - Jasmine Chen
+/. 5 c.920C>T r.(?) p.(Ser307Phe) - pathogenic g.68133075C>T g.68365607C>T - - LRP5_000107 - PubMed: Ai 2005 - - Germline - 1/37 - 0 - Frans Cremers
+/. 5 c.920C>T r.(?) p.(Ser307Phe) - pathogenic g.68133075C>T g.68365607C>T - - LRP5_000107 - PubMed: Ai 2005 - - Germline - 1/37 - 0 - Frans Cremers
-/. - 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
+/. 5 c.1000_1004dup r.(?) p.(Cys336Glyfs*50) - pathogenic g.68133155_68133159dup g.68365687_68365691dup - - LRP5_000108 - PubMed: Ai 2005 - - Germline - 1/37 - 0 - Frans Cremers
Legend   How to query   « First ‹ Prev     1 2 3 4 5     Next › Last »