LRP1 — 839 ClinVar variants
All ClinVar germline LRP1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 264 flagged for review →
5 Pathogenic · 2 Likely pathogenic · 9 Conflicting · 81 Benign · 20 Benign/Likely benign · 193 Likely benign · 529 Uncertain significance
Full LRP1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 264
Variants where the independent computational evidence doesn't line up with the clinical picture — a QC signal for a second look, not a reclassification.
Predictors vs ClinVar 4
ClinVar calls these pathogenic, but the computational predictors lean tolerated — the highest-value review flag.
-
LRP1 p.Arg1783Trp
Pathogenic
No assertion criteria
developmental dysplasia of the hip 3
-
LRP1 p.Lys1245Arg
Pathogenic
No assertion criteria
keratosis pilaris
-
LRP1 p.Pro224Ala
Pathogenic
No assertion criteria
developmental dysplasia of the hip 3
-
LRP1 p.Thr2129Lys
Pathogenic
No assertion criteria
developmental dysplasia of the hip 3
Predictors agree, ClinVar conflicts 1
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
Predictors lean, ClinVar uncertain 208
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification. · showing the 150 best-reviewed of 208
- LRP1 p.Arg2440Trp Uncertain significance Multiple submitters
- LRP1 p.Val3296Ile Uncertain significance Multiple submitters
- LRP1 p.Ala2396Thr Uncertain significance Single submitter
- LRP1 p.Ala2426Val Uncertain significance Single submitter
- LRP1 p.Ala3012Gly Uncertain significance Single submitter
- LRP1 p.Ala333Ser Uncertain significance Single submitter
- LRP1 p.Ala3786Thr Uncertain significance Single submitter
- LRP1 p.Ala3933Val Uncertain significance Single submitter
- LRP1 p.Ala3964Thr Uncertain significance Single submitter
- LRP1 p.Ala4273Val Uncertain significance Single submitter
- LRP1 p.Arg1276His Uncertain significance Single submitter
- LRP1 p.Arg1559Gln Uncertain significance Single submitter
- LRP1 p.Arg1589His Uncertain significance Single submitter
- LRP1 p.Arg1641Trp Uncertain significance Single submitter
- LRP1 p.Arg1869Gly Uncertain significance Single submitter
- LRP1 p.Arg1951Gln Uncertain significance Single submitter
- LRP1 p.Arg1999His Uncertain significance Single submitter
- LRP1 p.Arg2032Cys Uncertain significance Single submitter
- LRP1 p.Arg2152Trp Uncertain significance Single submitter
- LRP1 p.Arg2175His Uncertain significance Single submitter
- LRP1 p.Arg2175Leu Uncertain significance Single submitter
- LRP1 p.Arg2309Cys Uncertain significance Single submitter
- LRP1 p.Arg2322Cys Uncertain significance Single submitter
- LRP1 p.Arg2335Gln Uncertain significance Single submitter
- LRP1 p.Arg2518Gln Uncertain significance Single submitter
- LRP1 p.Arg2623Gly Uncertain significance Single submitter
- LRP1 p.Arg2649His Uncertain significance Single submitter
- LRP1 p.Arg2841His Uncertain significance Single submitter
- LRP1 p.Arg3209His Uncertain significance Single submitter
- LRP1 p.Arg3256Gly Uncertain significance Single submitter
- LRP1 p.Arg3285His Uncertain significance Single submitter
- LRP1 p.Arg3432His Uncertain significance Single submitter
- LRP1 p.Arg358Cys Uncertain significance Single submitter
- LRP1 p.Arg3750Gln Uncertain significance Single submitter
- LRP1 p.Arg3750Gly Uncertain significance Single submitter
- LRP1 p.Arg3750Leu Uncertain significance Single submitter
- LRP1 p.Arg3797His Uncertain significance Single submitter
- LRP1 p.Arg3947Trp Uncertain significance Single submitter
- LRP1 p.Arg4058Trp Uncertain significance Single submitter
- LRP1 p.Arg4196Gln Uncertain significance Single submitter
- LRP1 p.Arg4196Trp Uncertain significance Single submitter
- LRP1 p.Arg4293Gln Uncertain significance Single submitter
- LRP1 p.Arg4302His Uncertain significance Single submitter
- LRP1 p.Arg4326Gln Uncertain significance Single submitter
- LRP1 p.Arg4447Gln Uncertain significance Single submitter
- LRP1 p.Arg46Gln Uncertain significance Single submitter
- LRP1 p.Arg472Gln Uncertain significance Single submitter
- LRP1 p.Arg585His Uncertain significance Single submitter
- LRP1 p.Arg639Cys Uncertain significance Single submitter
- LRP1 p.Asn1154Ser Uncertain significance Single submitter
- LRP1 p.Asn136His Uncertain significance Single submitter
- LRP1 p.Asn1848Lys Uncertain significance Single submitter
- LRP1 p.Asn1909Ser Uncertain significance Single submitter
- LRP1 p.Asn3298Lys Uncertain significance Single submitter
- LRP1 p.Asn3698Asp Uncertain significance Single submitter
- LRP1 p.Asn4110Thr Uncertain significance Single submitter
- LRP1 p.Asn4173Ser Uncertain significance Single submitter
- LRP1 p.Asn446Tyr Uncertain significance Single submitter
- LRP1 p.Asn659Ser Uncertain significance Single submitter
- LRP1 p.Asn702Ser Uncertain significance Single submitter
- LRP1 p.Asp103Val Uncertain significance Single submitter
- LRP1 p.Asp1083Asn Uncertain significance Single submitter
- LRP1 p.Asp2385Asn Uncertain significance Single submitter
-
LRP1 p.Asp2632Glu
Uncertain significance
Single submitter
keratosis pilaris atrophicans
- LRP1 p.Asp269Asn Uncertain significance Single submitter
- LRP1 p.Asp2848Glu Uncertain significance Single submitter
- LRP1 p.Asp3176Glu Uncertain significance Single submitter
- LRP1 p.Asp3242Gly Uncertain significance Single submitter
- LRP1 p.Asp3364Tyr Uncertain significance Single submitter
- LRP1 p.Asp3484Asn Uncertain significance Single submitter
- LRP1 p.Asp3556Asn Uncertain significance Single submitter
- LRP1 p.Asp3674Asn Uncertain significance Single submitter
- LRP1 p.Asp3966Asn Uncertain significance Single submitter
- LRP1 p.Asp4078His Uncertain significance Single submitter
- LRP1 p.Asp4301Asn Uncertain significance Single submitter
- LRP1 p.Asp4497Glu Uncertain significance Single submitter
- LRP1 p.Asp48Tyr Uncertain significance Single submitter
- LRP1 p.Asp925Asn Uncertain significance Single submitter
- LRP1 p.Cys1565Tyr Uncertain significance Single submitter
- LRP1 p.Cys3494Tyr Uncertain significance Single submitter
- LRP1 p.Cys3638Tyr Uncertain significance Single submitter
- LRP1 p.Cys3807Arg Uncertain significance Single submitter
- LRP1 p.Cys3807Ser Uncertain significance Single submitter
- LRP1 p.Cys72Trp Uncertain significance Single submitter
- LRP1 p.Cys984Tyr Uncertain significance Single submitter
- LRP1 p.Gln1235Lys Uncertain significance Single submitter
- LRP1 p.Gln2062Glu Uncertain significance Single submitter
- LRP1 p.Gln2443Leu Uncertain significance Single submitter
- LRP1 p.Gln2512Arg Uncertain significance Single submitter
- LRP1 p.Gln4417Glu Uncertain significance Single submitter
- LRP1 p.Glu1030Gln Uncertain significance Single submitter
- LRP1 p.Glu1141Asp Uncertain significance Single submitter
- LRP1 p.Glu2985Lys Uncertain significance Single submitter
- LRP1 p.Glu3498Lys Uncertain significance Single submitter
- LRP1 p.Glu3658Lys Uncertain significance Single submitter
- LRP1 p.Glu3732Asp Uncertain significance Single submitter
- LRP1 p.Glu4538Lys Uncertain significance Single submitter
- LRP1 p.Gly1648Val Uncertain significance Single submitter
-
LRP1 p.Gly169Asp
Uncertain significance
Single submitter
keratosis pilaris atrophicans
- LRP1 p.Gly1890Ser Uncertain significance Single submitter
- LRP1 p.Gly1942Val Uncertain significance Single submitter
- LRP1 p.Gly2006Cys Uncertain significance Single submitter
- LRP1 p.Gly2056Ser Uncertain significance Single submitter
- LRP1 p.Gly2783Ser Uncertain significance Single submitter
- LRP1 p.Gly2926Arg Uncertain significance Single submitter
- LRP1 p.Gly3171Ser Uncertain significance Single submitter
- LRP1 p.Gly3440Arg Uncertain significance Single submitter
- LRP1 p.Gly3821Arg Uncertain significance Single submitter
- LRP1 p.Gly3844Ser Uncertain significance Single submitter
- LRP1 p.Gly398Ser Uncertain significance Single submitter
- LRP1 p.Gly400Ser Uncertain significance Single submitter
- LRP1 p.Gly4297Ser Uncertain significance Single submitter
- LRP1 p.Gly4540Trp Uncertain significance Single submitter
- LRP1 p.Gly513Val Uncertain significance Single submitter
- LRP1 p.Gly571Ser Uncertain significance Single submitter
- LRP1 p.Gly645Val Uncertain significance Single submitter
- LRP1 p.Gly774Arg Uncertain significance Single submitter
- LRP1 p.His1219Arg Uncertain significance Single submitter
- LRP1 p.His1510Arg Uncertain significance Single submitter
- LRP1 p.His2839Pro Uncertain significance Single submitter
-
LRP1 p.His3258Gln
Uncertain significance
Single submitter
Developmental disorder
-
LRP1 p.His3282Arg
Uncertain significance
Single submitter
keratosis pilaris atrophicans
- LRP1 p.His4120Asn Uncertain significance Single submitter
- LRP1 p.His412Gln Uncertain significance Single submitter
- LRP1 p.His4142Tyr Uncertain significance Single submitter
- LRP1 p.Ile1321Val Uncertain significance Single submitter
- LRP1 p.Ile3462Val Uncertain significance Single submitter
- LRP1 p.Ile3878Leu Uncertain significance Single submitter
- LRP1 p.Ile3965Val Uncertain significance Single submitter
-
LRP1 p.Ile405Thr
Uncertain significance
Single submitter
keratosis pilaris atrophicans
- LRP1 p.Ile4069Asn Uncertain significance Single submitter
- LRP1 p.Ile4102Val Uncertain significance Single submitter
- LRP1 p.Ile4108Leu Uncertain significance Single submitter
- LRP1 p.Ile4421Leu Uncertain significance Single submitter
- LRP1 p.Leu1829Val Uncertain significance Single submitter
- LRP1 p.Leu2081Pro Uncertain significance Single submitter
- LRP1 p.Leu277Phe Uncertain significance Single submitter
- LRP1 p.Leu3272Gln Uncertain significance Single submitter
- LRP1 p.Leu3272Pro Uncertain significance Single submitter
- LRP1 p.Leu3759Pro Uncertain significance Single submitter
- LRP1 p.Leu3782Val Uncertain significance Single submitter
- LRP1 p.Leu4123Val Uncertain significance Single submitter
- LRP1 p.Leu4295Arg Uncertain significance Single submitter
- LRP1 p.Leu4521Val Uncertain significance Single submitter
- LRP1 p.Lys1681Thr Uncertain significance Single submitter
- LRP1 p.Met1212Arg Uncertain significance Single submitter
- LRP1 p.Met1872Leu Uncertain significance Single submitter
- LRP1 p.Met4464Val Uncertain significance Single submitter
- LRP1 p.Met543Thr Uncertain significance Single submitter
- LRP1 p.Phe1581Ser Uncertain significance Single submitter
Predictors split 51
The independent predictors disagree with each other — read with care.
- LRP1 p.Gly2546Ser Likely benign Multiple submitters
- LRP1 p.Gly3713Arg Likely benign Multiple submitters
- LRP1 p.Tyr4054Phe Benign Multiple submitters
- LRP1 p.Ala3634Thr Uncertain significance Single submitter
- LRP1 p.Arg1117Gln Uncertain significance Single submitter
- LRP1 p.Arg1670Gln Uncertain significance Single submitter
- LRP1 p.Arg197Gln Uncertain significance Single submitter
- LRP1 p.Arg1993Gln Uncertain significance Single submitter
- LRP1 p.Arg2178Gln Uncertain significance Single submitter
- LRP1 p.Arg2178Trp Uncertain significance Single submitter
- LRP1 p.Arg2195His Uncertain significance Single submitter
- LRP1 p.Arg2316His Uncertain significance Single submitter
- LRP1 p.Arg2444Gln Uncertain significance Single submitter
- LRP1 p.Arg2577His Uncertain significance Single submitter
- LRP1 p.Arg2611His Uncertain significance Single submitter
- LRP1 p.Arg2623His Uncertain significance Single submitter
- LRP1 p.Arg3180His Uncertain significance Single submitter
- LRP1 p.Arg3992Cys Uncertain significance Single submitter
- LRP1 p.Arg4329Cys Uncertain significance Single submitter
- LRP1 p.Arg689Gln Uncertain significance Single submitter
- LRP1 p.Asn1134Thr Uncertain significance Single submitter
- LRP1 p.Asn1154Ile Uncertain significance Single submitter
- LRP1 p.Asn1848Ser Uncertain significance Single submitter
- LRP1 p.Gln229Lys Uncertain significance Single submitter
- LRP1 p.Gln2626Arg Uncertain significance Single submitter
- LRP1 p.Glu2661Lys Uncertain significance Single submitter
- LRP1 p.Glu3027Lys Uncertain significance Single submitter
- LRP1 p.Glu3688Lys Conflicting Single submitter
- LRP1 p.Gly1175Ser Uncertain significance Single submitter
- LRP1 p.Gly169Ser Uncertain significance Single submitter
- LRP1 p.Gly2165Arg Uncertain significance Single submitter
- LRP1 p.Gly3641Ser Uncertain significance Single submitter
- LRP1 p.Gly484Arg Uncertain significance Single submitter
- LRP1 p.Gly533Ser Uncertain significance Single submitter
- LRP1 p.His280Tyr Uncertain significance Single submitter
- LRP1 p.Ile1076Val Uncertain significance Single submitter
- LRP1 p.Ile4095Val Uncertain significance Single submitter
- LRP1 p.Leu1707Val Uncertain significance Single submitter
- LRP1 p.Pro54Ser Uncertain significance Single submitter
- LRP1 p.Ser3997Leu Uncertain significance Single submitter
- LRP1 p.Ser4163Gly Likely benign Single submitter
-
LRP1 p.Ser4520Cys
Uncertain significance
Single submitter
tricuspid atresia
- LRP1 p.Thr1935Ile Uncertain significance Single submitter
- LRP1 p.Thr1945Met Uncertain significance Single submitter
- LRP1 p.Thr2773Met Uncertain significance Single submitter
- LRP1 p.Thr3050Met Uncertain significance Single submitter
- LRP1 p.Thr4524Met Uncertain significance Single submitter
- LRP1 p.Thr570Pro Uncertain significance Single submitter
- LRP1 p.Thr935Pro Uncertain significance Single submitter
- LRP1 p.Tyr2061Phe Uncertain significance Single submitter
- LRP1 p.Tyr4103Phe Uncertain significance Single submitter
All LRP1 variants
Pathogenic 5
- c.2798-4C>A No assertion criteria developmental dysplasia of the hip 3
- p.Arg1783Trp No assertion criteria developmental dysplasia of the hip 3 ⚠
- p.Lys1245Arg No assertion criteria keratosis pilaris ⚠
- p.Pro224Ala No assertion criteria developmental dysplasia of the hip 3 ⚠
- p.Thr2129Lys No assertion criteria developmental dysplasia of the hip 3 ⚠
Likely pathogenic 2
- c.10346-2A>T Single submitter LRP1-related disorder
- c.4966+1G>T Single submitter Global developmental delay
Conflicting classifications of pathogenicity 9
- p.Arg2037Trp Single submitter
- p.Arg2244Gln Single submitter
- p.Arg3067Gln Single submitter
- p.Arg3927Cys Single submitter
- p.Asp100= Single submitter keratosis pilaris atrophicans
- p.Glu3688Lys Single submitter ⚠
- p.Gly3832Ala Single submitter
- p.Val3694Met Single submitter
- p.Val772Ile Single submitter ⚠
Benign 81
- c.10014+86A>G Multiple submitters
- c.10345+130G>A Multiple submitters
- c.10468+31C>T Multiple submitters
- c.10595-152A>G Multiple submitters
- c.10711+4C>T Multiple submitters
- c.10952-275C>T Multiple submitters
- c.10952-322G>A Multiple submitters
- c.12146-51C>G Multiple submitters
- c.12263-198C>A Multiple submitters
- c.12263-58A>G Multiple submitters
- c.12916+140A>G Multiple submitters
- c.13091+35T>C Multiple submitters
- c.13494+15G>A Multiple submitters
- c.190+199G>A Multiple submitters
- c.191-245G>A Multiple submitters
- c.2202+130G>A Multiple submitters
- c.2672-58G>A Multiple submitters
- c.2995+144C>T Multiple submitters
- c.2995+72G>T Multiple submitters
- c.3346+47G>T Multiple submitters
- c.3548-129G>A Multiple submitters
- c.3793+25G>A Multiple submitters keratosis pilaris
- c.6186+53C>T Multiple submitters
- c.6841+36A>T Multiple submitters
- c.6842-22C>G Multiple submitters keratosis pilaris
- c.7918+44C>T Multiple submitters
- c.7919-10C>T Multiple submitters
- c.7919-88A>G Multiple submitters
- c.8191+9C>T Multiple submitters
- c.8702-5C>T Multiple submitters keratosis pilaris
- c.8893-30T>C Multiple submitters
- c.8893-7C>T Multiple submitters keratosis pilaris
- c.9162+59T>C Multiple submitters
- c.9282+11C>T Multiple submitters keratosis pilaris
- c.9676+104C>T Multiple submitters
- c.9865+21A>G Multiple submitters
- p.Ala2396= Multiple submitters
- p.Ala2426= Multiple submitters keratosis pilaris
- p.Ala3589= Multiple submitters
- p.Arg2195= Multiple submitters
- p.Arg4111His Multiple submitters
- p.Asn2157= Multiple submitters
- p.Asn2269= Multiple submitters
- p.Asp1257= Multiple submitters
- p.Asp2080Asn Multiple submitters
- p.Asp2190= Multiple submitters
- p.Asp2975= Multiple submitters keratosis pilaris
- p.Asp3478= Multiple submitters
- p.Asp3643= Multiple submitters
- p.Cys1182= Multiple submitters keratosis pilaris
- p.Cys1261= Multiple submitters
- p.Cys2858= Multiple submitters keratosis pilaris
- p.Gln2900Pro Multiple submitters keratosis pilaris
- p.Gly2123= Multiple submitters
- p.Gly3832= Multiple submitters
- p.Ile3872= Multiple submitters
- p.Leu163= Multiple submitters
- p.Lys2551= Multiple submitters
- p.Thr2714= Multiple submitters
- p.Thr2999= Multiple submitters keratosis pilaris
- p.Thr3261= Multiple submitters keratosis pilaris
- p.Thr403= Multiple submitters
- p.Thr780Ile Multiple submitters
- p.Tyr4054Phe Multiple submitters ⚠
- c.10595-220C>T Single submitter
- c.11591-275C>A Single submitter
- c.2203-287C>T Single submitter
- c.3164-23_3164-10del Single submitter
- c.3991+125C>A Single submitter
- c.6464-137A>G Single submitter
- c.68-291C>T Single submitter
- p.Ala2362= Single submitter
- p.Asn1169= Single submitter
- p.Cys2830= Single submitter
- p.Gly2535= Single submitter
- p.His3087Tyr Single submitter
- p.Leu181= Single submitter
- p.Ser1096= Single submitter
- p.Ser2554= Single submitter
- p.Tyr2814= Single submitter
- p.Ala217Val No assertion criteria LRP1-related disorder
Benign/Likely benign 20
- c.11336-4A>G Multiple submitters
- c.9076+9C>T Multiple submitters
- p.Arg2087= Multiple submitters
- p.Arg2613Gln Multiple submitters
- p.Arg767= Multiple submitters
- p.Asn1129= Multiple submitters
- p.Asp1633= Multiple submitters
- p.Asp1958= Multiple submitters
- p.Asp2754= Multiple submitters
- p.Cys2591= Multiple submitters
- p.Cys2774= Multiple submitters
- p.Cys3393= Multiple submitters
- p.Gly2962Ser Multiple submitters
- p.Gly4228= Multiple submitters
- p.His1710= Multiple submitters
- p.Pro486= Multiple submitters
- p.Ser2364= Multiple submitters
- p.Ser3576= Multiple submitters
- p.Thr254= Multiple submitters
- p.Thr3137= Multiple submitters
Likely benign 193
- p.Arg3014His Multiple submitters
- p.Asn2472Ser Multiple submitters
- p.Asp1007= Multiple submitters
- p.Asp2819= Multiple submitters
- p.Asp2889= Multiple submitters
- p.Asp4096= Multiple submitters
- p.Asp4135= Multiple submitters
- p.Cys2660= Multiple submitters
- p.Gly1215Glu Multiple submitters
- p.Gly2546Ser Multiple submitters ⚠
- p.Gly3713Arg Multiple submitters ⚠
- p.Ile2961= Multiple submitters
- p.Leu361= Multiple submitters
- p.Ser3977Leu Multiple submitters
- p.Ser970= Multiple submitters
- p.Val2836Ala Multiple submitters
- c.10014+10del Single submitter
- c.1004+14G>A Single submitter
- c.10225+11_10225+12insGGGGGGC Single submitter
- c.10594+21del Single submitter
- c.10594+8G>A Single submitter
- c.10712-17C>G Single submitter
- c.11072-17C>T Single submitter
- c.11195-11G>C Single submitter
- c.11590+6G>A Single submitter
- c.12145+9G>A Single submitter
- c.12262+10C>T Single submitter
- c.12262+11G>A Single submitter
- c.1418-4C>T Single submitter
- c.1798+14G>A Single submitter
- c.1798+7G>A Single submitter
- c.1980-11G>C Single submitter
- c.2996-6C>T Single submitter
- c.3163+18G>A Single submitter
- c.3547+14C>T Single submitter
- c.3547+17G>C Single submitter
- c.448+20T>C Single submitter
- c.4606+12G>C Single submitter
- c.4606+20G>A Single submitter
- c.4966+10G>A Single submitter
- c.5386+17G>A Single submitter
- c.5527+19G>A Single submitter
- c.5527+9G>A Single submitter
- c.578-15C>T Single submitter
- c.578-20C>G Single submitter
- c.6186+8C>T Single submitter
- c.6463+12G>T Single submitter
- c.67+16C>G Single submitter
- c.68-10C>T Single submitter
- c.7555+11C>T Single submitter
- c.7804+12G>T Single submitter
- c.8069-9G>A Single submitter
- c.8192-12dup Single submitter
- c.8560+11G>A Single submitter
- c.8702-18G>A Single submitter
- c.8702-4G>A Single submitter
- c.8893-5T>C Single submitter
- c.9282+18C>T Single submitter
- c.9866-14G>A Single submitter
- p.Ala2116= Single submitter
- p.Ala2388= Single submitter
- p.Ala2809Thr Single submitter
- p.Ala3601= Single submitter
- p.Ala775Pro Single submitter
- p.Ala888= Single submitter
- p.Arg1323= Single submitter
- p.Arg1993Trp Single submitter
- p.Arg2686= Single submitter
- p.Arg3040= Single submitter
- p.Arg3714= Single submitter
- p.Arg4215= Single submitter
- p.Arg71= Single submitter
- p.Arg770Trp Single submitter
- p.Arg793= Single submitter
- p.Arg906= Single submitter
- p.Asn1129Ser Single submitter
- p.Asn1189= Single submitter
- p.Asn2117= Single submitter
- p.Asn239= Single submitter
- p.Asn2486= Single submitter
- p.Asn2586= Single submitter
- p.Asn3089= Single submitter
- p.Asn4461= Single submitter
- p.Asn480= Single submitter
- p.Asn75= Single submitter
- p.Asp1042= Single submitter
- p.Asp1136= Single submitter
- p.Asp1170= Single submitter
- p.Asp2596= Single submitter
- p.Asp2614= Single submitter
- p.Asp2795= Single submitter
- p.Asp2935= Single submitter
- p.Asp2984= Single submitter
- p.Asp3602= Single submitter
- p.Asp3635= Single submitter
- p.Asp4489= Single submitter
- p.Asp4491His Single submitter
- p.Asp4525= Single submitter
- p.Asp515= Single submitter
- p.Asp58= Single submitter
- p.Asp620= Single submitter
- p.Asp959= Single submitter
- p.Glu1968= Single submitter
- p.Glu2920Lys Single submitter
- p.Glu449= Single submitter
- p.Gly1488= Single submitter
- p.Gly1489= Single submitter
- p.Gly2675= Single submitter
- p.Gly3725Glu Single submitter
- p.Gly4300= Single submitter
- p.His1661= Single submitter
- p.His2500= Single submitter
- p.His4004= Single submitter
- p.Ile2138= Single submitter
- p.Ile3126= Single submitter
- p.Ile3173= Single submitter
- p.Ile723= Single submitter
- p.Leu1472= Single submitter
- p.Leu2171= Single submitter
- p.Leu3144= Single submitter
- p.Leu3159= Single submitter
- p.Leu320= Single submitter
- p.Leu4429= Single submitter
- p.Leu748= Single submitter
- p.Lys2772= Single submitter
- p.Phe2835= Single submitter
- p.Phe3033= Single submitter
- p.Pro1612= Single submitter
- p.Pro2249= Single submitter
- p.Pro3232= Single submitter
- p.Pro3550= Single submitter
- p.Pro4010= Single submitter
- p.Pro4296= Single submitter
- p.Ser1922= Single submitter
- p.Ser2850= Single submitter
- p.Ser3504= Single submitter
- p.Ser4163Gly Single submitter ⚠
- p.Ser438= Single submitter
- p.Ser4520= Single submitter
- p.Ser508= Single submitter
- p.Thr1485= Single submitter
- p.Thr1735= Single submitter
- p.Thr1867= Single submitter
- p.Thr2136= Single submitter
- p.Thr2773= Single submitter
- p.Thr2857= Single submitter
- p.Thr3050= Single submitter
- p.Thr3266= Single submitter
- p.Thr3815= Single submitter
- p.Thr4366= Single submitter
- p.Thr448= Single submitter
- p.Tyr2298= Single submitter
- p.Val1652= Single submitter
- p.Val2788Ile Single submitter
- p.Val2836= Single submitter
- p.Val4378Ile Single submitter
- c.10225+8G>A No assertion criteria LRP1-related disorder
- c.10595-9C>T No assertion criteria LRP1-related disorder
- c.10711+7_10711+8insGC No assertion criteria LRP1-related disorder
- c.1228-7G>A No assertion criteria LRP1-related disorder
- c.4606+8G>T No assertion criteria LRP1-related disorder
- c.67+3G>A No assertion criteria LRP1-related disorder
- c.7430-10C>G No assertion criteria LRP1-related disorder
- c.7918+10G>A No assertion criteria LRP1-related disorder
- p.Ala1009= No assertion criteria LRP1-related disorder
- p.Ala2179fs No assertion criteria LRP1-related disorder
- p.Ala2519= No assertion criteria LRP1-related disorder
- p.Ala3059= No assertion criteria LRP1-related disorder
- p.Asn3058= No assertion criteria LRP1-related disorder
- p.Asn3303= No assertion criteria LRP1-related disorder
- p.Asp1816= No assertion criteria LRP1-related disorder
- p.Asp2545= No assertion criteria LRP1-related disorder
- p.Asp3288= No assertion criteria LRP1-related disorder
- p.Asp3404= No assertion criteria LRP1-related disorder
- p.Asp3595= No assertion criteria LRP1-related disorder
- p.Cys1196= No assertion criteria LRP1-related disorder
- p.Gln2498= No assertion criteria LRP1-related disorder
- p.Glu3688= No assertion criteria LRP1-related disorder
- p.Gly3016= No assertion criteria LRP1-related disorder
- p.Gly4379Ser No assertion criteria LRP1-related disorder
- p.Gly4478= No assertion criteria LRP1-related disorder
- p.Gly774= No assertion criteria LRP1-related disorder
- p.Gly812= No assertion criteria LRP1-related disorder
- p.Ile3588= No assertion criteria LRP1-related disorder
- p.Leu1254= No assertion criteria LRP1-related disorder
- p.Leu1747= No assertion criteria LRP1-related disorder
- p.Pro3309= No assertion criteria LRP1-related disorder
- p.Pro3449= No assertion criteria LRP1-related disorder
- p.Pro3734= No assertion criteria LRP1-related disorder
- p.Ser1243= No assertion criteria LRP1-related disorder
- p.Ser3270= No assertion criteria LRP1-related disorder
- p.Thr4028= No assertion criteria LRP1-related disorder
- p.Tyr157= No assertion criteria LRP1-related disorder
Uncertain significance 529
Showing the top 300 by review status; the full set is in the sitemap.
- p.Ala1564Thr Multiple submitters
- p.Arg228Gln Multiple submitters
- p.Arg2440Trp Multiple submitters ⚠
- p.Arg539Gln Multiple submitters
- p.Asp4483Tyr Multiple submitters
- p.Ser2907Pro Multiple submitters
- p.Val3296Ile Multiple submitters ⚠
- c.10108+4_10108+7del Single submitter
- c.12039-1G>T Single submitter
- c.2671+1G>T Single submitter
- c.448+1del Single submitter
- c.5794+5G>A Single submitter
- c.68-2A>G Single submitter
- c.7919-8_7923dup Single submitter
- c.837_841+14del Single submitter
- c.841+5G>A Single submitter
- c.8437+1G>C Single submitter
- c.9471-1G>A Single submitter
- p.Ala2362Ser Single submitter
- p.Ala238Val Single submitter
- p.Ala2396Thr Single submitter ⚠
- p.Ala2426Val Single submitter ⚠
- p.Ala2519Glu Single submitter
- p.Ala2519Val Single submitter
- p.Ala2676Thr Single submitter
- p.Ala2767Val Single submitter
- p.Ala2919Val Single submitter
- p.Ala3012fs Single submitter
- p.Ala3012Gly Single submitter ⚠
- p.Ala3134Thr Single submitter
- p.Ala333Ser Single submitter ⚠
- p.Ala3454Thr Single submitter
- p.Ala3487Thr Single submitter
- p.Ala3510Val Single submitter
- p.Ala3601Val Single submitter
- p.Ala3634Glu Single submitter
- p.Ala3634Thr Single submitter ⚠
- p.Ala3786Thr Single submitter ⚠
- p.Ala3933Val Single submitter ⚠
- p.Ala3964Thr Single submitter ⚠
- p.Ala425Val Single submitter
- p.Ala4273Val Single submitter ⚠
- p.Ala501Val Single submitter
- p.Arg1070Gln Single submitter
- p.Arg1081His Single submitter
- p.Arg109Gln Single submitter
- p.Arg1117Gln Single submitter ⚠
- p.Arg1262His Single submitter
- p.Arg1276His Single submitter ⚠
- p.Arg1323Cys Single submitter
- p.Arg1323fs Single submitter
- p.Arg1559Gln Single submitter ⚠
- p.Arg1589His Single submitter ⚠
- p.Arg1594Ter Single submitter
- p.Arg1625Cys Single submitter
- p.Arg1628His Single submitter
- p.Arg1641Trp Single submitter ⚠
- p.Arg1670Gln Single submitter ⚠
- p.Arg1713Ser Single submitter
- p.Arg1869Gly Single submitter ⚠
- p.Arg1869His Single submitter
- p.Arg1951Gln Single submitter ⚠
- p.Arg197Gln Single submitter ⚠
- p.Arg1993Gln Single submitter ⚠
- p.Arg1999His Single submitter ⚠
- p.Arg2032Cys Single submitter ⚠
- p.Arg2037Gln Single submitter
- p.Arg2135Gln Single submitter
- p.Arg2135Ter Single submitter
- p.Arg2150Gln Single submitter
- p.Arg2152Trp Single submitter ⚠
- p.Arg2175His Single submitter ⚠
- p.Arg2175Leu Single submitter ⚠
- p.Arg2178Gln Single submitter ⚠
- p.Arg2178Trp Single submitter ⚠
- p.Arg2195Cys Single submitter
- p.Arg2195His Single submitter ⚠
- p.Arg2218Cys Single submitter
- p.Arg2309Cys Single submitter ⚠
- p.Arg2316His Single submitter ⚠
- p.Arg2322Cys Single submitter ⚠
- p.Arg2335Gln Single submitter ⚠
- p.Arg2444Gln Single submitter ⚠
- p.Arg2518Gln Single submitter ⚠
- p.Arg2525Gly Single submitter
- p.Arg2525Ter Single submitter
- p.Arg2571Gln Single submitter
- p.Arg2577His Single submitter ⚠
- p.Arg2611Cys Single submitter
- p.Arg2611His Single submitter ⚠
- p.Arg2623Gly Single submitter ⚠
- p.Arg2623His Single submitter ⚠
- p.Arg2649His Single submitter ⚠
- p.Arg2662Gln Single submitter
- p.Arg2821His Single submitter
- p.Arg2841His Single submitter ⚠
- p.Arg2874His Single submitter
- p.Arg2916His Single submitter
- p.Arg2937His Single submitter
- p.Arg3098His Single submitter
- p.Arg3180His Single submitter ⚠
- p.Arg3209His Single submitter ⚠
- p.Arg3256Gln Single submitter
- p.Arg3256Gly Single submitter ⚠
- p.Arg3285His Single submitter ⚠
- p.Arg3328His Single submitter
- p.Arg3432His Single submitter ⚠
- p.Arg3534His Single submitter
- p.Arg358Cys Single submitter ⚠
- p.Arg3612His Single submitter
- p.Arg3692Trp Single submitter
- p.Arg3702His Single submitter
- p.Arg3707His Single submitter
- p.Arg3750Gln Single submitter ⚠
- p.Arg3750Gly Single submitter ⚠
- p.Arg3750Leu Single submitter ⚠
- p.Arg3750Trp Single submitter
- p.Arg3753Cys Single submitter
- p.Arg3797His Single submitter ⚠
- p.Arg3901His Single submitter
- p.Arg3913Cys Single submitter
- p.Arg3940Leu Single submitter
- p.Arg3947Trp Single submitter ⚠
- p.Arg3992Cys Single submitter ⚠
- p.Arg4058Trp Single submitter ⚠
- p.Arg4196Gln Single submitter ⚠
- p.Arg4196Trp Single submitter ⚠
- p.Arg4225Leu Single submitter
- p.Arg4293Gln Single submitter ⚠
- p.Arg4302His Single submitter ⚠
- p.Arg4326Gln Single submitter ⚠
- p.Arg4329Cys Single submitter ⚠
- p.Arg4447Gln Single submitter ⚠
- p.Arg46Gln Single submitter ⚠
- p.Arg46Pro Single submitter
- p.Arg472Gln Single submitter ⚠
- p.Arg507His Single submitter
- p.Arg585His Single submitter ⚠
- p.Arg639Cys Single submitter ⚠
- p.Arg675Gln Single submitter
- p.Arg689Gln Single submitter ⚠
- p.Arg689Ter Single submitter
- p.Arg712His Single submitter
- p.Arg722His Single submitter
- p.Arg793Gln Single submitter
- p.Arg865His Single submitter
- p.Arg90His Single submitter
- p.Asn1134Thr Single submitter ⚠
- p.Asn1154Ile Single submitter ⚠
- p.Asn1154Ser Single submitter ⚠
- p.Asn1155Thr Single submitter
- p.Asn136His Single submitter ⚠
- p.Asn1685Ser Single submitter
- p.Asn1728Ser Single submitter
- p.Asn1770Lys Single submitter
- p.Asn1848Lys Single submitter ⚠
- p.Asn1848Ser Single submitter ⚠
- p.Asn1909Ser Single submitter ⚠
- p.Asn205Ser Single submitter
- p.Asn239Ser Single submitter
- p.Asn308Thr Single submitter
- p.Asn3092Lys Single submitter
- p.Asn3132Ser Single submitter
- p.Asn3298Lys Single submitter ⚠
- p.Asn3477Ser Single submitter
- p.Asn3584Lys Single submitter
- p.Asn3698Asp Single submitter ⚠
- p.Asn3991Lys Single submitter
- p.Asn4110Thr Single submitter ⚠
- p.Asn4173Ser Single submitter ⚠
- p.Asn4213Ser Single submitter
- p.Asn430Ser Single submitter
- p.Asn446Tyr Single submitter ⚠
- p.Asn497Ser Single submitter
- p.Asn659Ser Single submitter ⚠
- p.Asn702Ser Single submitter ⚠
- p.Asn729Asp Single submitter
- p.Asn939His Single submitter
- p.Asp103Val Single submitter ⚠
- p.Asp1083Asn Single submitter ⚠
- p.Asp1171Asn Single submitter
- p.Asp1174Asn Single submitter
- p.Asp1217Asn Single submitter
- p.Asp1288Gly Single submitter
- p.Asp2271Asn Single submitter
- p.Asp2385Asn Single submitter ⚠
- p.Asp2514Glu Single submitter
- p.Asp2514Gly Single submitter
- p.Asp2545Asn Single submitter
- p.Asp2589Asn Single submitter
- p.Asp2629Glu Single submitter
- p.Asp2632Glu Single submitter keratosis pilaris atrophicans ⚠
- p.Asp2687Asn Single submitter
- p.Asp269Asn Single submitter ⚠
- p.Asp2757Asn Single submitter
- p.Asp2820Asn Single submitter
- p.Asp2848Glu Single submitter ⚠
- p.Asp3017Glu Single submitter
- p.Asp301Asn Single submitter
- p.Asp3176Glu Single submitter ⚠
- p.Asp3242Gly Single submitter ⚠
- p.Asp3364Tyr Single submitter ⚠
- p.Asp3396Asn Single submitter
- p.Asp3484Asn Single submitter ⚠
- p.Asp3556Asn Single submitter ⚠
- p.Asp363Asn Single submitter
- p.Asp3674Asn Single submitter ⚠
- p.Asp3966Asn Single submitter ⚠
- p.Asp4078His Single submitter ⚠
- p.Asp4193fs Single submitter
- p.Asp4301Asn Single submitter ⚠
- p.Asp4497Glu Single submitter ⚠
- p.Asp48Tyr Single submitter ⚠
- p.Asp670Asn Single submitter
- p.Asp673Asn Single submitter
- p.Asp690Gly Single submitter
- p.Asp925Asn Single submitter ⚠
- p.Asp97Asn Single submitter
- p.Cys1565Tyr Single submitter ⚠
- p.Cys188fs Single submitter
- p.Cys2482fs Single submitter
- p.Cys2734fs Single submitter
- p.Cys3494Tyr Single submitter ⚠
- p.Cys3531_Asp3532delinsTer Single submitter
- p.Cys3638Tyr Single submitter ⚠
- p.Cys3807Arg Single submitter ⚠
- p.Cys3807Ser Single submitter ⚠
- p.Cys4282Tyr Single submitter
- p.Cys72Trp Single submitter ⚠
- p.Cys984Tyr Single submitter ⚠
- p.Gln1235Lys Single submitter ⚠
- p.Gln1239Ter Single submitter
- p.Gln2062Glu Single submitter ⚠
- p.Gln207His Single submitter
- p.Gln229Lys Single submitter ⚠
- p.Gln2443Leu Single submitter ⚠
- p.Gln2512Arg Single submitter ⚠
- p.Gln2572Pro Single submitter
- p.Gln2626Arg Single submitter ⚠
- p.Gln3338Ter Single submitter
- p.Gln3619His Single submitter
- p.Gln3986His Single submitter
- p.Gln4417Glu Single submitter ⚠
- p.Glu1030Gln Single submitter ⚠
- p.Glu1141Asp Single submitter ⚠
- p.Glu1259Lys Single submitter
- p.Glu1887Lys Single submitter
- p.Glu2088Lys Single submitter
- p.Glu2389_Ala2396del Single submitter
- p.Glu2389Lys Single submitter
- p.Glu2418Lys Single submitter
- p.Glu2661Lys Single submitter ⚠
- p.Glu2725Lys Single submitter
- p.Glu2790Lys Single submitter
- p.Glu2985Lys Single submitter ⚠
- p.Glu3009Lys Single submitter
- p.Glu3027Lys Single submitter ⚠
- p.Glu3210Gln Single submitter
- p.Glu3450Lys Single submitter
- p.Glu3498Lys Single submitter ⚠
- p.Glu3658Lys Single submitter ⚠
- p.Glu3732Asp Single submitter ⚠
- p.Glu3983Asp Single submitter
- p.Glu4538Lys Single submitter ⚠
- p.Gly105Arg Single submitter
- p.Gly1175Ser Single submitter ⚠
- p.Gly1215Arg Single submitter
- p.Gly1648Val Single submitter ⚠
- p.Gly169Asp Single submitter keratosis pilaris atrophicans ⚠
- p.Gly169Ser Single submitter ⚠
- p.Gly1890Ser Single submitter ⚠
- p.Gly1942Val Single submitter ⚠
- p.Gly2006Cys Single submitter ⚠
- p.Gly2056Ser Single submitter ⚠
- p.Gly2139Ser Single submitter
- p.Gly2165Arg Single submitter ⚠
- p.Gly2191Arg Single submitter
- p.Gly2199Ser Single submitter
- p.Gly2293Ser Single submitter
- p.Gly2488Asp Single submitter
- p.Gly2608Ser Single submitter
- p.Gly2760Arg Single submitter
- p.Gly2783Ser Single submitter ⚠
- p.Gly2859Ser Single submitter
- p.Gly2926Arg Single submitter ⚠
- p.Gly2926Ser Single submitter
- p.Gly3114Asp Single submitter
- p.Gly3171Ser Single submitter ⚠
- p.Gly3174Ser Single submitter
- p.Gly3310Arg Single submitter
- p.Gly3440Arg Single submitter ⚠
- p.Gly3562Ser Single submitter
- p.Gly3603Ser Single submitter
- p.Gly3641Ser Single submitter ⚠
- p.Gly3768Arg Single submitter
- p.Gly3821Arg Single submitter ⚠
- p.Gly3844Ser Single submitter ⚠
- p.Gly3970Arg Single submitter
- p.Gly3989fs Single submitter
- p.Gly398Ser Single submitter ⚠