All variants in the LRP6 gene

Information The variants shown are described using the NM_002336.2 transcript reference sequence.

55 entries on 1 page. Showing entries 1 - 55.
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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     
+?/? 1 c.8C>T r.(?) p.(Ala3Val) - likely pathogenic g.12419662G>A g.12266728G>A - - LRP6_000005 - - - - Unknown - - - - - Yunping Lei
+?/. - c.329A>G r.(?) p.(Tyr110Cys) - likely pathogenic g.12397316T>C - LRP6(NM_002336.3):c.329A>G (p.Y110C) - LRP6_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
?/. - c.455T>C r.(?) p.(Met152Thr) - VUS g.12356329A>G - LRP6(NM_002336.3):c.455T>C (p.M152T) - LRP6_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
+?/. - c.494G>T r.(?) p.(Arg165Leu) - likely pathogenic g.12356290C>A g.12203356C>A LRP6(NM_002336.3):c.494G>T (p.R165L) - LRP6_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
-?/. - c.577G>A r.(?) p.(Glu193Lys) - likely benign g.12356207C>T - LRP6(NM_002336.3):c.577G>A (p.E193K) - LRP6_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
?/. - c.595G>A r.(?) p.(Ala199Thr) - VUS g.12356189C>T - LRP6(NM_002336.2):c.595G>A (p.(Ala199Thr)) - LRP6_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. 3i c.647+4071T>A r.(=) p.(=) - VUS g.12352066A>T g.12199132A>T - - LRP6_000001 - - - - Germline ? - - - - Yu Sun
+/? 6 c.1079G>A r.(?) p.(Arg360His) - pathogenic g.12334271C>T g.12181337C>T - - LRP6_000002 - - - - Germline - - - - - Emily Smith
?/. - c.1178G>A r.(?) p.(Gly393Asp) - VUS g.12334172C>T - LRP6(NM_002336.3):c.1178G>A (p.G393D) - LRP6_000043 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
?/. - c.1244G>A r.(?) p.(Arg415Gln) - VUS g.12334106C>T - LRP6(NM_002336.3):c.1244G>A (p.R415Q) - LRP6_000051 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
+/. - c.1276C>T r.(?) p.(Arg426*) - pathogenic g.12334074G>A - LRP6(NM_002336.3):c.1276C>T (p.R426*) - LRP6_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
+/? 6 c.1298A>G r.(?) p.(Asn433Ser) - pathogenic g.12334052T>C g.12181118T>C - - LRP6_000003 - - - - Germline - - - - - Emily Smith
+?/. - c.1298A>G r.(?) p.(Asn433Ser) - pathogenic g.12334052T>C g.12181118T>C - - LRP6_000003 Pathogenic (PathoMan) - - rs397515473 Germline ? - - - - Mariona Terradas
+?/? 7 c.1418G>A r.(?) p.(Arg473Gln) - likely pathogenic g.12332871C>T g.12179937C>T - - LRP6_000004 - - - - Germline yes - - - - Emily Smith
?/. - c.1561G>A r.(?) p.(Gly521Ser) - VUS g.12318214C>T - LRP6(NM_002336.2):c.1561G>A (p.(Gly521Ser)) - LRP6_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. - c.1603A>G r.(?) p.(Ile535Val) - VUS g.12318172T>C - LRP6(NM_002336.3):c.1603A>G (p.(Ile535Val)) - LRP6_000050 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+?/? 8 c.1631A>G r.(?) p.(Tyr544Cys) - likely pathogenic g.12318144T>C g.12165210T>C - - LRP6_000006 - - - - Unknown - - - - - Yunping Lei
+/. - c.1817G>T r.(?) p.(Arg606Ile) - pathogenic g.12317442C>A - LRP6(NM_002336.3):c.1817G>T (p.R606I) - LRP6_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
+/. - c.1818dup r.(?) p.(Pro607Thrfs*13) - pathogenic g.12317441dup - LRP6(NM_002336.3):c.1818dupA (p.P607Tfs*13) - LRP6_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
+?/. - c.2008G>A r.(?) p.(Asp670Asn) - likely pathogenic g.12317251C>T g.12164317C>T LRP6(NM_002336.3):c.2008G>A (p.D670N) - LRP6_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. - c.2008G>A r.(?) p.(Asp670Asn) - VUS g.12317251C>T - LRP6(NM_002336.3):c.2008G>A (p.D670N) - LRP6_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
+/. - c.2029dup r.(?) p.(Tyr677Leufs*4) - pathogenic g.12317232dup - LRP6(NM_002336.3):c.2029dupT (p.Y677Lfs*4) - LRP6_000042 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-?/. - c.2482A>G r.(?) p.(Ile828Val) - likely benign g.12312072T>C - LRP6(NM_002336.3):c.2482A>G (p.I828V) - LRP6_000041 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
?/. - c.2599A>G r.(?) p.(Thr867Ala) - VUS g.12311955T>C - LRP6(NM_002336.3):c.2599A>G (p.(Thr867Ala)) - LRP6_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. - c.2599A>G r.(?) p.(Thr867Ala) - likely benign g.12311955T>C - LRP6(NM_002336.3):c.2599A>G (p.(Thr867Ala)) - LRP6_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.2994+9G>A r.(=) p.(=) - likely benign g.12303761C>T - LRP6(NM_002336.3):c.2994+9G>A - LRP6_000049 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. - c.3052_3055dup r.(?) p.(Leu1019Argfs*5) - VUS g.12302027_12302030dup - LRP6(NM_002336.3):c.3052_3055dup (p.(Leu1019Argfs*5)) - LRP6_000048 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. - c.3130G>A r.(?) p.(Asp1044Asn) - VUS g.12301952C>T - LRP6(NM_002336.3):c.3130G>A (p.D1044N) - LRP6_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
?/. - c.3131A>T r.(?) p.(Asp1044Val) - VUS g.12301951T>A - LRP6(NM_002336.2):c.3131A>T (p.(Asp1044Val)) - LRP6_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. - c.3256G>A r.(?) p.(Ala1086Thr) - VUS g.12300441C>T - LRP6(NM_002336.2):c.3256G>A (p.(Ala1086Thr)) - LRP6_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+/. - c.3318_3321dup r.(?) p.(Ala1108Phefs*4) - pathogenic g.12300376_12300379dup - LRP6(NM_002336.3):c.3318_3321dupTTTA (p.A1108Ffs*4) - LRP6_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. - c.3380A>G r.(?) p.(Glu1127Gly) - likely benign g.12300317T>C - LRP6(NM_002336.3):c.3380A>G (p.(Glu1127Gly)) - LRP6_000047 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+/. - c.3397+1G>A r.spl? p.? - pathogenic g.12300299C>T g.12147365C>T - - LRP6_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/. - c.3398-2A>C r.spl? p.? - pathogenic g.12291470T>G g.12138536T>G - - LRP6_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. - c.3406C>T r.(?) p.(Arg1136Trp) - likely benign g.12291460G>A - LRP6(NM_002336.3):c.3406C>T (p.(Arg1136Trp)) - LRP6_000046 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.3527A>C r.(?) p.(Glu1176Ala) - likely benign g.12291339T>G - LRP6(NM_002336.3):c.3527A>C (p.E1176A) - LRP6_000040 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
?/. - c.3773C>T r.(?) p.(Thr1258Met) - VUS g.12284952G>A g.12132018G>A - - LRP6_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. - c.3815G>A r.(?) p.(Gly1272Glu) - VUS g.12284910C>T - LRP6(NM_002336.3):c.3815G>A (p.G1272E) - LRP6_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
?/. - c.3934A>C r.(?) p.(Asn1312His) - VUS g.12284791T>G - LRP6(NM_002336.2):c.3934A>C (p.(Asn1312His)) - LRP6_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.3948A>T r.(?) p.(Lys1316Asn) - likely benign g.12284777T>A - LRP6(NM_002336.3):c.3948A>T (p.(Lys1316Asn)) - LRP6_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+?/. - c.3984_3987del r.(?) p.(Asp1329Serfs*51) - likely pathogenic g.12283813_12283816del g.12130879_12130882del - - LRP6_000012 - - - - Germline - - - - - Kaori Yamoto
+?/. - c.3984_3987del r.(?) p.(Asp1329Serfs*51) - likely pathogenic g.12283813_12283816del g.12130879_12130882del - - LRP6_000012 - - - - Germline - - - - - Kaori Yamoto
?/. - c.3994C>T r.(?) p.(Arg1332Cys) - VUS g.12283804G>A - LRP6(NM_002336.3):c.3994C>T (p.(Arg1332Cys), p.R1332C) - LRP6_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
?/. - c.3994C>T r.(?) p.(Arg1332Cys) - VUS g.12283804G>A - LRP6(NM_002336.3):c.3994C>T (p.(Arg1332Cys), p.R1332C) - LRP6_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. - c.4226T>C r.(?) p.(Met1409Thr) - VUS g.12279711A>G g.12126777A>G LRP6(NM_002336.2):c.4226T>C (p.(Met1409Thr)) - LRP6_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. - c.4373C>A r.(?) p.(Pro1458His) - VUS g.12278306G>T g.12125372G>T LRP6(NM_002336.2):c.4373C>A (p.(Pro1458His)) - LRP6_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. - c.4376C>G r.(?) p.(Pro1459Arg) - VUS g.12278303G>C g.12125369G>C - - LRP6_000019 - - - rs376248000 Germline ? - - - - Mariona Terradas
?/. - c.4379A>G r.(?) p.(Tyr1460Cys) - VUS g.12278300T>C g.12125366T>C 12-12278300-T-C - LRP6_000018 - - - rs555746396 Germline ? - - - - Mariona Terradas
-?/. - c.4436C>T r.(?) p.(Thr1479Ile) - likely benign g.12278243G>A - LRP6(NM_002336.3):c.4436C>T (p.(Thr1479Ile), p.T1479I) - LRP6_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-?/. - c.4436C>T r.(?) p.(Thr1479Ile) - likely benign g.12278243G>A - LRP6(NM_002336.3):c.4436C>T (p.(Thr1479Ile), p.T1479I) - LRP6_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/? 21 c.4445C>T r.(?) p.(Pro1482Leu) - likely benign g.12278234G>A g.12125300G>A - - LRP6_000007 - - - - Unknown - - - - - Yunping Lei
?/. - c.4495A>G r.(?) p.(Thr1499Ala) - VUS g.12277551T>C - LRP6(NM_002336.3):c.4495A>G (p.(Thr1499Ala)) - LRP6_000045 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.4600A>C r.(?) p.(Thr1534Pro) - likely benign g.12274302T>G - LRP6(NM_002336.3):c.4600A>C (p.(Thr1534Pro)) - LRP6_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. - c.4664G>A r.(?) p.(Gly1555Asp) - VUS g.12274238C>T - LRP6(NM_002336.3):c.4664G>A (p.(Gly1555Asp)) - LRP6_000044 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+?/? 23 c.4721G>T r.(?) p.(Arg1574Leu) - likely pathogenic g.12274181C>A g.12121247C>A - - LRP6_000008 - - - - Unknown - 1/192 patients - - - Yunping Lei
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