All variants in the LRP2 gene

Information The variants shown are described using the NM_004525.2 transcript reference sequence.

368 entries on 4 pages. Showing entries 1 - 100.
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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.62C>A r.(?) p.(Ala21Glu) - benign g.170218848G>T g.169362338G>T LRP2(NM_004525.3):c.62C>A (p.A21E) - LRP2_000114 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. - c.63G>C r.(?) p.(Ala21=) - benign g.170218847C>G g.169362337C>G LRP2(NM_004525.3):c.63G>C (p.A21=) - LRP2_000113 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Groningen
-/. - c.63G>C r.(?) p.(Ala21=) - benign g.170218847C>G g.169362337C>G LRP2(NM_004525.3):c.63G>C (p.A21=) - LRP2_000113 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
-/. - c.79+15A>G r.(=) p.(=) - benign g.170218816T>C g.169362306T>C LRP2(NM_004525.3):c.79+15A>G - LRP2_000112 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Groningen
-/. - c.79+15A>G r.(=) p.(=) - benign g.170218816T>C g.169362306T>C LRP2(NM_004525.3):c.79+15A>G - LRP2_000112 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
-?/. - c.92C>T r.(?) p.(Ala31Val) - likely benign g.170177382G>A g.169320872G>A LRP2(NM_004525.3):c.92C>T (p.A31V) - LRP2_000111 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Groningen
-/. - c.92C>T r.(?) p.(Ala31Val) - benign g.170177382G>A g.169320872G>A LRP2(NM_004525.3):c.92C>T (p.A31V) - LRP2_000111 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-?/. - c.149C>G r.(?) p.(Thr50Ser) - likely benign g.170177325G>C g.169320815G>C LRP2(NM_004525.2):c.149C>G (p.(Thr50Ser)), LRP2(NM_004525.3):c.149C>G (p.T50S) - LRP2_000110 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-?/. - c.149C>G r.(?) p.(Thr50Ser) - likely benign g.170177325G>C g.169320815G>C LRP2(NM_004525.2):c.149C>G (p.(Thr50Ser)), LRP2(NM_004525.3):c.149C>G (p.T50S) - LRP2_000110 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
-?/. - c.171G>A r.(?) p.(Ala57=) - likely benign g.170177303C>T - LRP2(NM_004525.3):c.171G>A (p.A57=) - LRP2_000288 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.187G>A r.(?) p.(Ala63Thr) - VUS g.170177287C>T - LRP2(NM_004525.3):c.187G>A (p.A63T) - LRP2_000287 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.233G>C r.(?) p.(Gly78Ala) - VUS g.170175349C>G - LRP2(NM_004525.3):c.233G>C (p.G78A) - LRP2_000263 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+?/. 3 c.242T>A r.(?) p.(Ile81Asn) - likely pathogenic g.170175340A>T g.169318830A>T - - LRP2_000006 - - - - Germline - - - 0 - Franca Anglani
-/. - c.248A>G r.(?) p.(Asn83Ser) - benign g.170175334T>C g.169318824T>C LRP2(NM_004525.3):c.248A>G (p.N83S) - LRP2_000109 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Groningen
-/. - c.248A>G r.(?) p.(Asn83Ser) - benign g.170175334T>C g.169318824T>C LRP2(NM_004525.3):c.248A>G (p.N83S) - LRP2_000109 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
?/. - c.335A>G r.(?) p.(Gln112Arg) - VUS g.170163883T>C - LRP2(NM_004525.3):c.335A>G (p.Q112R) - LRP2_000253 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.350A>G r.(?) p.(Asn117Ser) - VUS g.170163868T>C g.169307358T>C LRP2(NM_004525.3):c.350A>G (p.N117S) - LRP2_000108 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Groningen
?/. - c.382G>A r.(?) p.(Asp128Asn) - VUS g.170163836C>T g.169307326C>T LRP2(NM_004525.2):c.382G>A (p.(Asp128Asn)) - LRP2_000107 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
-?/. - c.391A>G r.(?) p.(Arg131Gly) - likely benign g.170163827T>C g.169307317T>C LRP2(NM_004525.3):c.391A>G (p.R131G) - LRP2_000106 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-?/. - c.391A>G r.(?) p.(Arg131Gly) - likely benign g.170163827T>C - LRP2(NM_004525.3):c.391A>G (p.R131G) - LRP2_000106 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-/. - c.402C>A r.(?) p.(Pro134=) - benign g.170163816G>T g.169307306G>T - - LRP2_000141 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
-?/. - c.403G>A r.(?) p.(Asp135Asn) - likely benign g.170163815C>T g.169307305C>T LRP2(NM_004525.3):c.403G>A (p.D135N) - LRP2_000218 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. - c.428-13_428-8del r.(=) p.(=) - benign g.170151245_170151250del - LRP2(NM_004525.3):c.428-13_428-8delTTTTTT - LRP2_000286 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
-?/. - c.428-10_428-8del r.(=) p.(=) - likely benign g.170151248_170151250del - LRP2(NM_004525.3):c.428-10_428-8delTTT - LRP2_000104 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. - c.428-9_428-8del r.(=) p.(=) - likely benign g.170151249_170151250del g.169294739_169294740del LRP2(NM_004525.3):c.428-9_428-8delTT - LRP2_000105 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Utrecht
-/. - c.428-9_428-8del r.(=) p.(=) - benign g.170151249_170151250del g.169294739_169294740del LRP2(NM_004525.3):c.428-9_428-8delTT - LRP2_000105 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. - c.428-9_428-8del r.(=) p.(=) - benign g.170151249_170151250del - LRP2(NM_004525.3):c.428-9_428-8delTT - LRP2_000105 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
?/. - c.428-6C>A r.(=) p.(=) - VUS g.170151226G>T g.169294716G>T LRP2(NM_004525.2):c.428-6C>A (p.(=)), LRP2(NM_004525.3):c.428-6C>A - LRP2_000216 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.428-6C>A r.(=) p.(=) - likely benign g.170151226G>T g.169294716G>T LRP2(NM_004525.2):c.428-6C>A (p.(=)), LRP2(NM_004525.3):c.428-6C>A - LRP2_000216 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.428-3T>A r.spl? p.? - likely benign g.170151223A>T g.169294713A>T LRP2(NM_004525.3):c.428-3T>A - LRP2_000215 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. - c.639C>T r.(?) p.(Asp213=) - benign g.170150671G>A g.169294161G>A - - LRP2_000140 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
-/. - c.769+18T>C r.(=) p.(=) - benign g.170148745A>G g.169292235A>G - - LRP2_000139 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
-/. - c.775G>C r.(?) p.(Gly259Arg) - benign g.170147502C>G g.169290992C>G - - LRP2_000138 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
-?/. - c.923-6G>A r.(=) p.(=) - likely benign g.170145661C>T g.169289151C>T LRP2(NM_004525.2):c.923-6G>A (p.(=)) - LRP2_000101 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
?/. - c.1021A>G r.(?) p.(Asn341Asp) - VUS g.170145557T>C - LRP2(NM_004525.3):c.1021A>G (p.N341D) - LRP2_000306 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.1094G>A r.(?) p.(Arg365Gln) - VUS g.170139460C>T - LRP2(NM_004525.3):c.1094G>A (p.R365Q) - LRP2_000305 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.1141C>T r.(?) p.(Arg381Cys) - VUS g.170139413G>A - - - LRP2_000304 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. - c.1172-8G>A r.(=) p.(=) - likely benign g.170137037C>T g.169280527C>T LRP2(NM_004525.2):c.1172-8G>A (p.(=)) - LRP2_000212 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-/. - c.1172-8G>A r.(=) p.(=) - benign g.170137037C>T g.169280527C>T - - LRP2_000212 9 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs115371758 Germline - 9/2791 individuals - 0 - Mohammed Faruq
-?/. - c.1176C>T r.(?) p.(Gly392=) - likely benign g.170137025G>A g.169280515G>A LRP2(NM_004525.3):c.1176C>T (p.G392=) - LRP2_000211 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.1180G>T r.(?) p.(Ala394Ser) - likely benign g.170137021C>A g.169280511C>A LRP2(NM_004525.3):c.1180G>T (p.A394S) - LRP2_000210 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. - c.1239del r.(?) p.(Phe414Serfs*4) - pathogenic g.170136962del - - - LRP2_000303 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. - c.1342-13G>A r.(=) p.(=) - likely benign g.170136118C>T - LRP2(NM_004525.3):c.1342-13G>A - LRP2_000285 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
-?/. - c.1346T>A r.(?) p.(Phe449Tyr) - likely benign g.170136101A>T g.169279591A>T LRP2(NM_004525.3):c.1346T>A (p.F449Y) - LRP2_000099 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Groningen
?/. - c.1568A>G r.(?) p.(Tyr523Cys) - VUS g.170134459T>C g.169277949T>C LRP2(NM_004525.3):c.1568A>G (p.Y523C) - LRP2_000209 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.1782A>G r.(?) p.(Val594=) - likely benign g.170131739T>C - LRP2(NM_004525.3):c.1782A>G (p.V594=) - LRP2_000262 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.1792G>A r.(?) p.(Gly598Ser) - VUS g.170131729C>T g.169275219C>T LRP2(NM_004525.3):c.1792G>A (p.G598S) - LRP2_000208 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. - c.1921del r.(?) p.(Ala641Leufs*3) - pathogenic g.170131601del - LRP2(NM_004525.3):c.1921delG (p.A641Lfs*3) - LRP2_000302 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.1973A>G r.(?) p.(Tyr658Cys) - VUS g.170131548T>C g.169275038T>C - - LRP2_000098 11 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs111360923 Germline - 11/2794 individuals - 0 - Mohammed Faruq
?/. - c.1992A>G r.(?) p.(Lys664=) - VUS g.170129561T>C g.169273051T>C LRP2(NM_004525.3):c.1992A>G (p.K664=) - LRP2_000235 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. - c.2006G>A r.(?) p.(Gly669Asp) - benign g.170129547C>T g.169273037C>T - - LRP2_000137 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
-?/. - c.2006G>A r.(?) p.(Gly669Asp) - likely benign g.170129547C>T g.169273037C>T - - LRP2_000137 128 heterozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs34291900 Germline - 128/2795 individuals - 0 - Mohammed Faruq
-?/. - c.2006G>A r.(?) p.(Gly669Asp) - likely benign g.170129547C>T g.169273037C>T - - LRP2_000137 4 homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs34291900 Germline - 4/2795 individuals - 0 - Mohammed Faruq
?/. - c.2024T>C r.(?) p.(Val675Ala) - VUS g.170129529A>G g.169273019A>G LRP2(NM_004525.2):c.2024T>C (p.(Val675Ala)) - LRP2_000097 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
-/. - c.2025C>T r.(?) p.(Val675=) - benign g.170129528G>A g.169273018G>A LRP2(NM_004525.3):c.2025C>T (p.V675=) - LRP2_000096 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Groningen
-/. - c.2025C>T r.(?) p.(Val675=) - benign g.170129528G>A g.169273018G>A LRP2(NM_004525.3):c.2025C>T (p.V675=) - LRP2_000096 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
-?/. - c.2079C>T r.(?) p.(Phe693=) - likely benign g.170129474G>A g.169272964G>A LRP2(NM_004525.3):c.2079C>T (p.F693=) - LRP2_000207 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.2079C>T r.(?) p.(Phe693=) - likely benign g.170129474G>A - LRP2(NM_004525.3):c.2079C>T (p.F693=) - LRP2_000207 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
?/. - c.2080G>A r.(?) p.(Gly694Ser) - VUS g.170129473C>T - LRP2(NM_004525.3):c.2080G>A (p.G694S) - LRP2_000284 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.2137T>G r.(?) p.(Phe713Val) - VUS g.170127597A>C g.169271087A>C LRP2(NM_004525.3):c.2137T>G (p.F713V) - LRP2_000206 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.2168C>T r.(?) p.(Pro723Leu) - VUS g.170127566G>A - LRP2(NM_004525.3):c.2168C>T (p.P723L) - LRP2_000252 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.2178G>T r.(?) p.(Leu726Phe) - VUS g.170127556C>A g.169271046C>A LRP2(NM_004525.3):c.2178G>T (p.L726F) - LRP2_000205 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.2178G>T r.(?) p.(Leu726Phe) - likely benign g.170127556C>A - LRP2(NM_004525.3):c.2178G>T (p.L726F) - LRP2_000205 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
?/. - c.2210C>T r.(?) p.(Ser737Leu) - VUS g.170127524G>A g.169271014G>A LRP2(NM_004525.2):c.2210C>T (p.(Ser737Leu)), LRP2(NM_004525.3):c.2210C>T (p.S737L) - LRP2_000095 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
?/. - c.2210C>T r.(?) p.(Ser737Leu) - VUS g.170127524G>A g.169271014G>A LRP2(NM_004525.2):c.2210C>T (p.(Ser737Leu)), LRP2(NM_004525.3):c.2210C>T (p.S737L) - LRP2_000095 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.2274A>T r.(?) p.(Ser758=) - likely benign g.170127460T>A - LRP2(NM_004525.3):c.2274A>T (p.S758=) - LRP2_000283 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. - c.2320+32_2320+33del r.(=) p.(=) - benign g.170127400_170127401del g.169270890_169270891del LRP2(NM_004525.3):c.2320+32_2320+33delGT - LRP2_000094 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Groningen
-?/. - c.2335G>A r.(?) p.(Ala779Thr) - likely benign g.170115713C>T - LRP2(NM_004525.3):c.2335G>A (p.A779T) - LRP2_000204 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.2342A>G r.(?) p.(Asn781Ser) - likely benign g.170115706T>C g.169259196T>C LRP2(NM_004525.2):c.2342A>G (p.(Asn781Ser)) - LRP2_000234 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-/. - c.2376T>C r.(?) p.(Asp792=) - benign g.170115672A>G g.169259162A>G - - LRP2_000136 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
-?/. - c.2435G>A r.(?) p.(Arg812Lys) - likely benign g.170115613C>T - LRP2(NM_004525.3):c.2435G>A (p.R812K) - LRP2_000282 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. - c.2456G>A r.(?) p.(Arg819His) - benign g.170115592C>T g.169259082C>T LRP2(NM_004525.3):c.2456G>A (p.R819H) - LRP2_000093 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-/. - c.2460A>G r.(?) p.(Thr820=) - benign g.170115588T>C g.169259078T>C LRP2(NM_004525.3):c.2460A>G (p.T820=) - LRP2_000135 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
-/. - c.2460A>G r.(?) p.(Thr820=) - benign g.170115588T>C g.169259078T>C LRP2(NM_004525.3):c.2460A>G (p.T820=) - LRP2_000135 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-?/. - c.2511C>T r.(?) p.(Ala837=) - likely benign g.170115537G>A g.169259027G>A LRP2(NM_004525.2):c.2511C>T (p.(=)), LRP2(NM_004525.3):c.2511C>T (p.A837=) - LRP2_000092 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-?/. - c.2511C>T r.(?) p.(Ala837=) - likely benign g.170115537G>A g.169259027G>A LRP2(NM_004525.2):c.2511C>T (p.(=)), LRP2(NM_004525.3):c.2511C>T (p.A837=) - LRP2_000092 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
-?/. - c.2602A>T r.(?) p.(Thr868Ser) - likely benign g.170113671T>A g.169257161T>A LRP2(NM_004525.2):c.2602A>T (p.(Thr868Ser)), LRP2(NM_004525.3):c.2602A>T (p.T868S) - LRP2_000233 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.2602A>T r.(?) p.(Thr868Ser) - likely benign g.170113671T>A - LRP2(NM_004525.2):c.2602A>T (p.(Thr868Ser)), LRP2(NM_004525.3):c.2602A>T (p.T868S) - LRP2_000233 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.2603C>G r.(?) p.(Thr868Ser) - VUS g.170113670G>C g.169257160G>C LRP2(NM_004525.2):c.2603C>G (p.(Thr868Ser)), LRP2(NM_004525.3):c.2603C>G (p.T868S) - LRP2_000091 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
-?/. - c.2603C>G r.(?) p.(Thr868Ser) - likely benign g.170113670G>C g.169257160G>C LRP2(NM_004525.2):c.2603C>G (p.(Thr868Ser)), LRP2(NM_004525.3):c.2603C>G (p.T868S) - LRP2_000091 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.2631C>T r.(?) p.(Ile877=) - likely benign g.170113642G>A g.169257132G>A LRP2(NM_004525.3):c.2631C>T (p.I877=) - LRP2_000090 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
?/. - c.2688C>G r.(?) p.(His896Gln) - VUS g.170112698G>C g.169256188G>C LRP2(NM_004525.2):c.2688C>G (p.(His896Gln)), LRP2(NM_004525.3):c.2688C>G (p.H896Q) - LRP2_000089 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
?/. - c.2688C>G r.(?) p.(His896Gln) - VUS g.170112698G>C g.169256188G>C LRP2(NM_004525.2):c.2688C>G (p.(His896Gln)), LRP2(NM_004525.3):c.2688C>G (p.H896Q) - LRP2_000089 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
?/. - c.2688C>G r.(?) p.(His896Gln) - VUS g.170112698G>C g.169256188G>C LRP2(NM_004525.2):c.2688C>G (p.(His896Gln)), LRP2(NM_004525.3):c.2688C>G (p.H896Q) - LRP2_000089 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
+/. - c.2770+1G>A r.spl? p.? - pathogenic g.170112615C>T g.169256105C>T - - LRP2_000134 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
?/. - c.2813G>A r.(?) p.(Arg938Gln) - VUS g.170103983C>T - LRP2(NM_004525.3):c.2813G>A (p.R938Q) - LRP2_000281 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.2917G>A r.(?) p.(Ala973Thr) - likely benign g.170103488C>T g.169246978C>T LRP2(NM_004525.3):c.2917G>A (p.A973T) - LRP2_000203 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
./. - c.2933C>T r.(?) p.(Thr978Met) - pathogenic g.170103472G>A g.169246962G>A - - LRP2_000003 - PubMed: DDDS 2015, Journal: DDDS 2015 - - Germline - - - 0 - Johan den Dunnen
-/. - c.2933C>T r.(?) p.(Thr978Met) - benign g.170103472G>A g.169246962G>A LRP2(NM_004525.3):c.2933C>T (p.T978M) - LRP2_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Groningen
-?/. - c.2933C>T r.(?) p.(Thr978Met) - likely benign g.170103472G>A - LRP2(NM_004525.3):c.2933C>T (p.T978M) - LRP2_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
?/. - c.2987G>T r.(?) p.(Arg996Leu) - VUS g.170103418C>A g.169246908C>A - - LRP2_000238 3 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs201115003 Germline - 3/2795 individuals - 0 - Mohammed Faruq
?/. - c.3023C>T r.(?) p.(Ser1008Phe) - VUS g.170103382G>A - LRP2(NM_004525.3):c.3023C>T (p.S1008F) - LRP2_000261 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. - c.3054C>A r.(?) p.(Thr1018=) - benign g.170103351G>T g.169246841G>T LRP2(NM_004525.3):c.3054C>A (p.T1018=) - LRP2_000087 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Groningen
-/. - c.3054C>A r.(?) p.(Thr1018=) - benign g.170103351G>T g.169246841G>T LRP2(NM_004525.3):c.3054C>A (p.T1018=) - LRP2_000087 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
-/. - c.3069A>G r.(?) p.(Thr1023=) - benign g.170103336T>C g.169246826T>C LRP2(NM_004525.3):c.3069A>G (p.T1023=) - LRP2_000086 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Groningen
-/. - c.3069A>G r.(?) p.(Thr1023=) - benign g.170103336T>C g.169246826T>C LRP2(NM_004525.3):c.3069A>G (p.T1023=) - LRP2_000086 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
-?/. - c.3110G>A r.(?) p.(Arg1037Lys) - likely benign g.170103295C>T g.169246785C>T LRP2(NM_004525.3):c.3110G>A (p.R1037K) - LRP2_000085 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-?/. - c.3128A>G r.(?) p.(Tyr1043Cys) - likely benign g.170103277T>C g.169246767T>C LRP2(NM_004525.3):c.3128A>G (p.Y1043C) - LRP2_000084 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-?/. - c.3145G>A r.(?) p.(Asp1049Asn) - likely benign g.170103260C>T g.169246750C>T LRP2(NM_004525.3):c.3145G>A (p.D1049N) - LRP2_000202 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.3182G>C r.(?) p.(Gly1061Ala) - VUS g.170103223C>G - LRP2(NM_004525.2):c.3182G>C (p.(Gly1061Ala)) - LRP2_000246 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
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