Unique variants in the LRP1 gene

Information The variants shown are described using the NM_002332.2 transcript reference sequence.

52 entries on 1 page. Showing entries 1 - 52.
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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 1i c.67+4469T>C r.(?) p.(=) - association g.57527283T>C g.57133500T>C - - LRP1_000065 - PubMed: Chasman 2011, Journal: Chasman 2011 not in ClinVar rs11172113 Germline - C=0.405240 ALFA project HpaII+ - - Ivo Horn
-/. 1 - c.300C>T r.(?) p.(Asp100=) - benign g.57535266C>T g.57141483C>T LRP1(NM_002332.2):c.300C>T (p.D100=) - LRP1_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
+?/. 1 - c.650C>T r.(?) p.(Ala217Val) - VUS g.57539082C>T - - - LRP1_000068 - Doucette 2021, submitted - rs1800127 Germline yes 0.0184 - - - Lance P Doucette
-?/. 1 - c.762G>A r.(?) p.(Thr254=) - likely benign g.57539194G>A g.57145411G>A LRP1(NM_002332.2):c.762G>A (p.T254=) - LRP1_000041 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.1048C>T r.(?) p.(Arg350Cys) - VUS g.57548305C>T g.57154522C>T LRP1(NM_002332.2):c.1048C>T (p.R350C) - LRP1_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.1201C>T r.(?) p.(Arg401Cys) - VUS g.57548458C>T g.57154675C>T - - LRP1_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. 1 - c.2816A>G r.(?) p.(Asn939Ser) - VUS g.57560731A>G g.57166948A>G LRP1(NM_002332.2):c.2816A>G (p.(Asn939Ser)) - LRP1_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+?/. 1 - c.2910G>A r.spl? (p.Ser970=) - VUS g.57560825G>A g.57167042G>A - - LRP1_000067 hypothesized variant may affect splicing, no functional data. Doucette 2021, submitted - rs78054559 Germline yes 0.001551 - - - Lance P Doucette
?/. 1 - c.3208C>T r.(?) p.(Arg1070Trp) - VUS g.57566995C>T g.57173212C>T LRP1(NM_002332.2):c.3208C>T (p.(Arg1070Trp)) - LRP1_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-/. 1 - c.3507C>T r.(?) p.(Asn1169=) - benign g.57567723C>T g.57173940C>T - - LRP1_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-/. 1 - c.3546C>T r.(?) p.(Cys1182=) - benign g.57567762C>T g.57173979C>T - - LRP1_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. 1 - c.3644G>A r.(?) p.(Gly1215Glu) - likely benign g.57569339G>A g.57175556G>A LRP1(NM_002332.2):c.3644G>A (p.(Gly1215Glu)) - LRP1_000044 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+/. 1 23 c.3734A>G r.(?) p.(Lys1245Arg) - pathogenic (recessive) g.57569429A>G g.57175646A>G - - LRP1_000064 LRP1 mRNA 0.2 of normal PubMed: Klar 2015, Journal: Klar 2015 - - Germline yes - - - - Johan den Dunnen
-/. 1 - c.3783C>T r.(?) p.(Cys1261=) - benign g.57569478C>T g.57175695C>T - - LRP1_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. 1 - c.4437G>A r.(?) p.(Ser1479=) - likely benign g.57572217G>A g.57178434G>A LRP1(NM_002332.2):c.4437G>A (p.S1479=) - LRP1_000045 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.4582T>G r.(?) p.(Tyr1528Asp) - VUS g.57572362T>G g.57178579T>G LRP1(NM_002332.2):c.4582T>G (p.(Tyr1528Asp)) - LRP1_000063 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-/. 1 - c.4586A>C r.(?) p.(His1529Pro) - benign g.57572366A>C g.57178583A>C LRP1(NM_002332.2):c.4586A>C (p.H1529P) - LRP1_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
?/. 1 - c.5385G>A r.(?) p.(Met1795Ile) - VUS g.57574261G>A g.57180478G>A LRP1(NM_002332.2):c.5385G>A (p.(Met1795Ile)) - LRP1_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. 1 - c.5758G>A r.(?) p.(Gly1920Arg) - VUS g.57577257G>A g.57183474G>A - - LRP1_000047 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. 1 - c.6043G>A r.(?) p.(Val2015Ile) - VUS g.57577981G>A g.57184198G>A LRP1(NM_002332.2):c.6043G>A (p.(Val2015Ile)) - LRP1_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. 1 - c.6497G>A r.(?) p.(Cys2166Tyr) - VUS g.57579347G>A - LRP1(NM_002332.2):c.6497G>A (p.C2166Y) - LRP1_000070 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.7129C>T r.(?) p.(Arg2377Cys) - VUS g.57584685C>T g.57190902C>T - - LRP1_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-/. 1 - c.7278C>T r.(?) p.(Ala2426=) - benign g.57585144C>T g.57191361C>T LRP1(NM_002332.2):c.7278C>T (p.A2426=) - LRP1_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-?/. 1 - c.7415A>G r.(?) p.(Asn2472Ser) - likely benign g.57585281A>G g.57191498A>G LRP1(NM_002332.2):c.7415A>G (p.(Asn2472Ser)) - LRP1_000049 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. 1 - c.7523G>A r.(?) p.(Gly2508Asp) - likely benign g.57586721G>A g.57192938G>A LRP1(NM_002332.2):c.7523G>A (p.(Gly2508Asp)) - LRP1_000050 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. 1 - c.7555G>A r.(?) p.(Ala2519Thr) - VUS g.57586753G>A g.57192970G>A LRP1(NM_002332.2):c.7555G>A (p.(Ala2519Thr)) - LRP1_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. 1 - c.7838G>A r.(?) p.(Arg2613Gln) - likely benign g.57587715G>A g.57193932G>A LRP1(NM_002332.2):c.7838G>A (p.(Arg2613Gln)) - LRP1_000052 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. 1 - c.7914C>T r.(?) p.(Asn2638=) - likely benign g.57587791C>T g.57194008C>T LRP1(NM_002332.2):c.7914C>T (p.N2638=) - LRP1_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.7963G>A r.(?) p.(Val2655Met) - VUS g.57588181G>A g.57194398G>A LRP1(NM_002332.2):c.7963G>A (p.(Val2655Met)) - LRP1_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. 1 - c.8362G>A r.(?) p.(Val2788Ile) - VUS g.57589107G>A g.57195324G>A LRP1(NM_002332.2):c.8362G>A (p.V2788I) - LRP1_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. 1 - c.8699A>C r.(?) p.(Gln2900Pro) - benign g.57589784A>C g.57196001A>C LRP1(NM_002332.2):c.8699A>C (p.Q2900P) - LRP1_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-/. 1 - c.8702-5C>T r.spl? p.? - benign g.57589865C>T g.57196082C>T LRP1(NM_002332.2):c.8702-5C>T - LRP1_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-/. 1 - c.8997T>C r.(?) p.(Thr2999=) - benign g.57590869T>C g.57197086T>C LRP1(NM_002332.2):c.8997T>C (p.T2999=) - LRP1_000053 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
+/. 1 59 c.9410C>T r.(?) p.(Thr3137Met) - pathogenic g.57592066C>T - c.9410C>T - LRP1_000071 - PubMed: Maranhao 2014 - - Germline yes 0/95 unrelated Pakistani controls - - - LOVD
+?/. 1 - c.9628G>C r.(?) p.(Glu3210Gln) - VUS g.57592405G>C - - - LRP1_000069 Compound heterozygous with (p.Ala317Val) Doucette 2021, submitted - rs769969579 Germline yes - - - - Lance P Doucette
+?/. 1 - c.9774C>G r.(?) p.(His3258Gln) - VUS g.57593092C>G g.57199309C>G NM_002332.2:c.9774C>G (His3258Gln) - LRP1_000040 candidate variant PubMed: de Ligt 2012 - - De novo - - - - - Johan den Dunnen
-/. 1 - c.9783G>A r.(?) p.(Thr3261=) - benign g.57593101G>A g.57199318G>A LRP1(NM_002332.2):c.9783G>A (p.T3261=) - LRP1_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-/. 1 - c.10345+19G>A r.(=) p.(=) - benign g.57594955G>A g.57201172G>A - - LRP1_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-/. 1 - c.10711+4C>T r.spl? p.? - benign g.57596324C>T g.57202541C>T - - LRP1_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. 1 - c.10899C>T r.(?) p.(Asp3633=) - likely benign g.57597252C>T g.57203469C>T LRP1(NM_002332.2):c.10899C>T (p.D3633=) - LRP1_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.10971C>T r.(?) p.(Asp3657=) - likely benign g.57598212C>T g.57204429C>T LRP1(NM_002332.2):c.10971C>T (p.D3657=) - LRP1_000054 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.11026G>A r.(?) p.(Glu3676Lys) - VUS g.57598267G>A g.57204484G>A LRP1(NM_002332.2):c.11026G>A (p.(Glu3676Lys)) - LRP1_000055 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. 1 - c.11174G>A r.(?) p.(Gly3725Glu) - likely benign g.57598512G>A g.57204729G>A LRP1(NM_002332.2):c.11174G>A (p.(Gly3725Glu)) - LRP1_000056 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. 1 - c.11859+1G>A r.spl? p.? - VUS g.57600525G>A g.57206742G>A - - LRP1_000058 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+?/. 1 - c.11930C>T r.(?) p.(Ser3977Leu) - VUS g.57601891C>T g.57208108C>T - - LRP1_000066 - Doucette 2021, submitted - rs142650905 Germline yes 0.000386 - - - Lance P Doucette
-?/. 1 - c.12039G>C r.(?) p.(Gly4013=) - likely benign g.57602494G>C g.57208711G>C LRP1(NM_002332.2):c.12039G>C (p.G4013=) - LRP1_000059 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.12189C>T r.(?) p.(Asp4063=) - likely benign g.57602909C>T g.57209126C>T LRP1(NM_002332.2):c.12189C>T (p.D4063=) - LRP1_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.12818C>T r.(?) p.(Ala4273Val) - VUS g.57604564C>T g.57210781C>T LRP1(NM_002332.2):c.12818C>T (p.(Ala4273Val)) - LRP1_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. 1 - c.12848C>T r.(?) p.(Thr4283Ile) - VUS g.57604594C>T g.57210811C>T LRP1(NM_002332.2):c.12848C>T (p.T4283I) - LRP1_000060 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.12923G>T r.(?) p.(Cys4308Phe) - VUS g.57604965G>T g.57211182G>T LRP1(NM_002332.2):c.12923G>T (p.(Cys4308Phe)) - LRP1_000061 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. 1 - c.13091+35T>C r.(=) p.(=) - VUS g.57605168T>C g.57211385T>C - - LRP1_000001 - - - - Germline - - - - - Yu Sun
+?/. 1 - c.13329G>A r.(?) p.(Trp4443*) - likely pathogenic g.57605780G>A - - - LRP1_000072 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
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