LRP4 — 1507 ClinVar variants

All ClinVar germline LRP4 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 664 flagged for review →

20 Pathogenic · 1 Pathogenic/Likely pathogenic · 28 Likely pathogenic · 63 Conflicting · 67 Benign · 34 Benign/Likely benign · 534 Likely benign · 760 Uncertain significance

Full LRP4 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 664

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 agree, ClinVar conflicts 15

ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.

LRP4 p.Arg1158Trp Conflicting Single submitter
Cenani-Lenz syndactyly syndrome
LRP4 p.Arg1170Gln Conflicting Single submitter
Cenani-Lenz syndactyly syndrome
LRP4 p.Arg545Trp Conflicting Single submitter
sclerosteosis 2
LRP4 p.Asn1022Asp Conflicting Single submitter
Cenani-Lenz syndactyly syndrome
LRP4 p.Asn1207Ser Conflicting Single submitter
Cenani-Lenz syndactyly syndrome
LRP4 p.Glu180Gly Conflicting Single submitter
Inborn genetic diseases
LRP4 p.His596Arg Conflicting Single submitter
Cenani-Lenz syndactyly syndrome
LRP4 p.Ile1603Val Conflicting Single submitter
congenital myasthenic syndrome 17
LRP4 p.Ile448Val Conflicting Single submitter
Inborn genetic diseases
LRP4 p.Ser1098Thr Conflicting Single submitter
epilepsy
LRP4 p.Ser1315Leu Conflicting Single submitter
Cenani-Lenz syndactyly syndrome
LRP4 p.Ser1633Leu Conflicting Single submitter
congenital myasthenic syndrome 17
LRP4 p.Ser1887Cys Conflicting Single submitter
sclerosteosis 2
LRP4 p.Thr392Met Conflicting Single submitter
Cenani-Lenz syndactyly syndrome
LRP4 p.Trp1186Ser Conflicting Single submitter
sclerosteosis 2

Predictors lean, ClinVar uncertain 506

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 506

LRP4 p.Ala1203Thr Uncertain significance Multiple submitters
Cenani-Lenz syndactyly syndrome
LRP4 p.Ala1237Ser Uncertain significance Multiple submitters
congenital myasthenic syndrome 17
LRP4 p.Ala1630Val Uncertain significance Multiple submitters
Cenani-Lenz syndactyly syndrome
LRP4 p.Ala1661Thr Uncertain significance Multiple submitters
Inborn genetic diseases
LRP4 p.Ala1713Val Uncertain significance Multiple submitters
sclerosteosis 2
LRP4 p.Ala1727Thr Uncertain significance Multiple submitters
Inborn genetic diseases
LRP4 p.Ala188Val Uncertain significance Multiple submitters
congenital myasthenic syndrome 17
LRP4 p.Ala254Val Uncertain significance Multiple submitters
congenital myasthenic syndrome 17
LRP4 p.Ala272Thr Uncertain significance Multiple submitters
congenital myasthenic syndrome 17
LRP4 p.Ala880Val Uncertain significance Multiple submitters
Cenani-Lenz syndactyly syndrome
LRP4 p.Arg108Gln Uncertain significance Multiple submitters
Cenani-Lenz syndactyly syndrome
LRP4 p.Arg108Trp Uncertain significance Multiple submitters
sclerosteosis 2
LRP4 p.Arg1136Trp Uncertain significance Multiple submitters
Cenani-Lenz syndactyly syndrome
LRP4 p.Arg1158Gln Uncertain significance Multiple submitters
Cenani-Lenz syndactyly syndrome
LRP4 p.Arg1194Trp Uncertain significance Multiple submitters
Inborn genetic diseases
LRP4 p.Arg1234Gln Uncertain significance Multiple submitters
Cenani-Lenz syndactyly syndrome
LRP4 p.Arg1277His Uncertain significance Multiple submitters
Cenani-Lenz syndactyly syndrome
LRP4 p.Arg1304Gln Uncertain significance Multiple submitters
Cenani-Lenz syndactyly syndrome
LRP4 p.Arg1327Gln Uncertain significance Multiple submitters
LRP4-related disorder
LRP4 p.Arg1361His Uncertain significance Multiple submitters
Cenani-Lenz syndactyly syndrome
LRP4 p.Arg1425Gln Uncertain significance Multiple submitters
Inborn genetic diseases
LRP4 p.Arg1462His Uncertain significance Multiple submitters
sclerosteosis 2
LRP4 p.Arg146Cys Uncertain significance Multiple submitters
Cenani-Lenz syndactyly syndrome
LRP4 p.Arg1506Trp Uncertain significance Multiple submitters
Inborn genetic diseases
LRP4 p.Arg1549Gln Uncertain significance Multiple submitters
sclerosteosis 2
LRP4 p.Arg1588Gln Uncertain significance Multiple submitters
Cenani-Lenz syndactyly syndrome
LRP4 p.Arg1646Leu Uncertain significance Multiple submitters
sclerosteosis 2
LRP4 p.Arg1646Trp Uncertain significance Multiple submitters
Cenani-Lenz syndactyly syndrome
LRP4 p.Arg1685Gln Uncertain significance Multiple submitters
congenital myasthenic syndrome 17
LRP4 p.Arg1685Trp Uncertain significance Multiple submitters
sclerosteosis 2
LRP4 p.Arg1709Cys Uncertain significance Multiple submitters
Inborn genetic diseases
LRP4 p.Arg1709Pro Uncertain significance Multiple submitters
Cenani-Lenz syndactyly syndrome
LRP4 p.Arg1770Gln Uncertain significance Multiple submitters
Cenani-Lenz syndactyly syndrome
LRP4 p.Arg1830Gln Uncertain significance Multiple submitters
congenital myasthenic syndrome 17
LRP4 p.Arg1838Gln Uncertain significance Multiple submitters
Cenani-Lenz syndactyly syndrome
LRP4 p.Arg1884Gly Uncertain significance Multiple submitters
sclerosteosis 2
LRP4 p.Arg1885Gln Uncertain significance Multiple submitters
sclerosteosis 2
LRP4 p.Arg232Cys Uncertain significance Multiple submitters
Inborn genetic diseases
LRP4 p.Arg232His Uncertain significance Multiple submitters
Cenani-Lenz syndactyly syndrome
LRP4 p.Arg263His Uncertain significance Multiple submitters
Inborn genetic diseases
LRP4 p.Arg281His Uncertain significance Multiple submitters
congenital myasthenic syndrome 17
LRP4 p.Arg281Leu Uncertain significance Multiple submitters
sclerosteosis 2
LRP4 p.Arg284His Uncertain significance Multiple submitters
Inborn genetic diseases
LRP4 p.Arg288Gly Uncertain significance Multiple submitters
sclerosteosis 2
LRP4 p.Arg323Cys Uncertain significance Multiple submitters
congenital myasthenic syndrome 17
LRP4 p.Arg323His Uncertain significance Multiple submitters
Inborn genetic diseases
LRP4 p.Arg350Trp Uncertain significance Multiple submitters
congenital myasthenic syndrome 17
LRP4 p.Arg352Gln Uncertain significance Multiple submitters
sclerosteosis 2
LRP4 p.Arg352Trp Uncertain significance Multiple submitters
Cenani-Lenz syndactyly syndrome
LRP4 p.Arg385Gln Uncertain significance Multiple submitters
congenital myasthenic syndrome 17
LRP4 p.Arg427Gln Uncertain significance Multiple submitters
sclerosteosis 2
LRP4 p.Arg430Gln Uncertain significance Multiple submitters
Cenani-Lenz syndactyly syndrome
LRP4 p.Arg479His Uncertain significance Multiple submitters
sclerosteosis 2
LRP4 p.Arg479Leu Uncertain significance Multiple submitters
congenital myasthenic syndrome 17
LRP4 p.Arg491Trp Uncertain significance Multiple submitters
Inborn genetic diseases
LRP4 p.Arg494Cys Uncertain significance Multiple submitters
Inborn genetic diseases
LRP4 p.Arg545Gln Uncertain significance Multiple submitters
Inborn genetic diseases
LRP4 p.Arg578Cys Uncertain significance Multiple submitters
sclerosteosis 2
LRP4 p.Arg589Cys Uncertain significance Multiple submitters
Cenani-Lenz syndactyly syndrome
LRP4 p.Arg590His Uncertain significance Multiple submitters
Cenani-Lenz syndactyly syndrome
LRP4 p.Arg611Cys Uncertain significance Multiple submitters
Cenani-Lenz syndactyly syndrome
LRP4 p.Arg694Cys Uncertain significance Multiple submitters
congenital myasthenic syndrome 17
LRP4 p.Arg748Gln Uncertain significance Multiple submitters
sclerosteosis 2
LRP4 p.Arg773Cys Uncertain significance Multiple submitters
Cenani-Lenz syndactyly syndrome
LRP4 p.Arg783Gln Uncertain significance Multiple submitters
Inborn genetic diseases
LRP4 p.Arg839Trp Uncertain significance Multiple submitters
Inborn genetic diseases
LRP4 p.Arg916Cys Uncertain significance Multiple submitters
Cenani-Lenz syndactyly syndrome
LRP4 p.Arg973Gln Uncertain significance Multiple submitters
Cenani-Lenz syndactyly syndrome
LRP4 p.Arg973Trp Uncertain significance Multiple submitters
Cenani-Lenz syndactyly syndrome
LRP4 p.Arg979Trp Uncertain significance Multiple submitters
Inborn genetic diseases
LRP4 p.Arg997Cys Uncertain significance Multiple submitters
Cenani-Lenz syndactyly syndrome
LRP4 p.Arg998Cys Uncertain significance Multiple submitters
Cenani-Lenz syndactyly syndrome
LRP4 p.Arg998His Uncertain significance Multiple submitters
Cenani-Lenz syndactyly syndrome
LRP4 p.Arg999Trp Uncertain significance Multiple submitters
Inborn genetic diseases
LRP4 p.Asn1152Asp Uncertain significance Multiple submitters
Inborn genetic diseases
LRP4 p.Asn1244Ser Uncertain significance Multiple submitters
Cenani-Lenz syndactyly syndrome
LRP4 p.Asn1385Ser Uncertain significance Multiple submitters
congenital myasthenic syndrome 17
LRP4 p.Asn1441Ser Uncertain significance Multiple submitters
Inborn genetic diseases
LRP4 p.Asn1467Ser Uncertain significance Multiple submitters
Inborn genetic diseases
LRP4 p.Asn1545Ser Uncertain significance Multiple submitters
Cenani-Lenz syndactyly syndrome
LRP4 p.Asn1589Lys Uncertain significance Multiple submitters
sclerosteosis 2
LRP4 p.Asn1711Ser Uncertain significance Multiple submitters
congenital myasthenic syndrome 17
LRP4 p.Asn1788His Uncertain significance Multiple submitters
sclerosteosis 2
LRP4 p.Asn303Lys Uncertain significance Multiple submitters
congenital myasthenic syndrome 17
LRP4 p.Asn321Lys Uncertain significance Multiple submitters
Cenani-Lenz syndactyly syndrome
LRP4 p.Asn705Asp Uncertain significance Multiple submitters
Inborn genetic diseases
LRP4 p.Asp1089Val Uncertain significance Multiple submitters
sclerosteosis 2
LRP4 p.Asp1185Glu Uncertain significance Multiple submitters
Cenani-Lenz syndactyly syndrome
LRP4 p.Asp1262Asn Uncertain significance Multiple submitters
Cenani-Lenz syndactyly syndrome
LRP4 p.Asp1370Gly Uncertain significance Multiple submitters
Cenani-Lenz syndactyly syndrome
LRP4 p.Asp1502Ala Uncertain significance Multiple submitters
congenital myasthenic syndrome 17
LRP4 p.Asp175Glu Uncertain significance Multiple submitters
congenital myasthenic syndrome 17
LRP4 p.Asp206Asn Uncertain significance Multiple submitters
sclerosteosis 2
LRP4 p.Asp336Asn Uncertain significance Multiple submitters
Cenani-Lenz syndactyly syndrome
LRP4 p.Asp594Asn Uncertain significance Multiple submitters
sclerosteosis 2
LRP4 p.Asp859Val Uncertain significance Multiple submitters
Inborn genetic diseases
LRP4 p.Asp93Gly Uncertain significance Multiple submitters
Inborn genetic diseases
LRP4 p.Cys319Tyr Uncertain significance Multiple submitters
Cenani-Lenz syndactyly syndrome
LRP4 p.Gln259Arg Uncertain significance Multiple submitters
Inborn genetic diseases
LRP4 p.Gln274Glu Uncertain significance Multiple submitters
Inborn genetic diseases
LRP4 p.Gln311His Uncertain significance Multiple submitters
Cenani-Lenz syndactyly syndrome
LRP4 p.Gln370His Uncertain significance Multiple submitters
Cenani-Lenz syndactyly syndrome
LRP4 p.Gln377Arg Uncertain significance Multiple submitters
Cenani-Lenz syndactyly syndrome
LRP4 p.Gln738Pro Uncertain significance Multiple submitters
Cenani-Lenz syndactyly syndrome
LRP4 p.Glu1383Ala Uncertain significance Multiple submitters
Cenani-Lenz syndactyly syndrome
LRP4 p.Glu1383Gly Uncertain significance Multiple submitters
sclerosteosis 2
LRP4 p.Glu1383Lys Uncertain significance Multiple submitters
Cenani-Lenz syndactyly syndrome
LRP4 p.Glu1691Lys Uncertain significance Multiple submitters
Cenani-Lenz syndactyly syndrome
LRP4 p.Glu24Lys Uncertain significance Multiple submitters
congenital myasthenic syndrome 17
LRP4 p.Glu355Lys Uncertain significance Multiple submitters
sclerosteosis 2
LRP4 p.Glu480Gln Uncertain significance Multiple submitters
Cenani-Lenz syndactyly syndrome
LRP4 p.Glu97Ala Uncertain significance Multiple submitters
Cenani-Lenz syndactyly syndrome
LRP4 p.Gly1012Val Uncertain significance Multiple submitters
Cenani-Lenz syndactyly syndrome
LRP4 p.Gly1025Arg Uncertain significance Multiple submitters
Cenani-Lenz syndactyly syndrome
LRP4 p.Gly1314Ser Uncertain significance Multiple submitters
Cenani-Lenz syndactyly syndrome
LRP4 p.Gly1729Ala Uncertain significance Multiple submitters
sclerosteosis 2
LRP4 p.Gly1834Arg Uncertain significance Multiple submitters
congenital myasthenic syndrome 17
LRP4 p.Gly408Ser Uncertain significance Multiple submitters
sclerosteosis 2
LRP4 p.Gly707Arg Uncertain significance Multiple submitters
Cenani-Lenz syndactyly syndrome
LRP4 p.Gly870Asp Uncertain significance Multiple submitters
sclerosteosis 2
LRP4 p.Gly913Glu Uncertain significance Multiple submitters
Cenani-Lenz syndactyly syndrome
LRP4 p.Gly923Ser Uncertain significance Multiple submitters
Cenani-Lenz syndactyly syndrome
LRP4 p.His1115Arg Uncertain significance Multiple submitters
congenital myasthenic syndrome 17
LRP4 p.His1115Gln Uncertain significance Multiple submitters
Cenani-Lenz syndactyly syndrome
LRP4 p.His1378Gln Uncertain significance Multiple submitters
Inborn genetic diseases
LRP4 p.His1723Arg Uncertain significance Multiple submitters
Cenani-Lenz syndactyly syndrome
LRP4 p.His456Tyr Uncertain significance Multiple submitters
congenital myasthenic syndrome 17
LRP4 p.His77Arg Uncertain significance Multiple submitters
sclerosteosis 2
LRP4 p.Ile1493Asn Uncertain significance Multiple submitters
Cenani-Lenz syndactyly syndrome
LRP4 p.Ile1728Val Uncertain significance Multiple submitters
congenital myasthenic syndrome 17
LRP4 p.Ile204Thr Uncertain significance Multiple submitters
Cenani-Lenz syndactyly syndrome
LRP4 p.Ile207Val Uncertain significance Multiple submitters
Inborn genetic diseases
LRP4 p.Leu1501Phe Uncertain significance Multiple submitters
congenital myasthenic syndrome 17
LRP4 p.Leu1732Phe Uncertain significance Multiple submitters
Inborn genetic diseases
LRP4 p.Leu1837Pro Uncertain significance Multiple submitters
Cenani-Lenz syndactyly syndrome
LRP4 p.Lys1280Arg Uncertain significance Multiple submitters
Cenani-Lenz syndactyly syndrome
LRP4 p.Met1008Val Uncertain significance Multiple submitters
Cenani-Lenz syndactyly syndrome
LRP4 p.Met1299Val Uncertain significance Multiple submitters
congenital myasthenic syndrome 17
LRP4 p.Met1664Val Uncertain significance Multiple submitters
congenital myasthenic syndrome 17
LRP4 p.Met371Thr Uncertain significance Multiple submitters
sclerosteosis 2
LRP4 p.Met612Val Uncertain significance Multiple submitters
Cenani-Lenz syndactyly syndrome
LRP4 p.Phe275Leu Uncertain significance Multiple submitters
Inborn genetic diseases
LRP4 p.Pro1001Arg Uncertain significance Multiple submitters
Inborn genetic diseases
LRP4 p.Pro1023Ser Uncertain significance Multiple submitters
Cenani-Lenz syndactyly syndrome
LRP4 p.Pro1067Ser Uncertain significance Multiple submitters
sclerosteosis 2
LRP4 p.Pro106Leu Uncertain significance Multiple submitters
Cenani-Lenz syndactyly syndrome
LRP4 p.Pro1090Ser Uncertain significance Multiple submitters
sclerosteosis 2
LRP4 p.Pro1307Ser Uncertain significance Multiple submitters
LRP4-related disorder
LRP4 p.Pro1382Ser Uncertain significance Multiple submitters
Cenani-Lenz syndactyly syndrome
LRP4 p.Pro1643Leu Uncertain significance Multiple submitters
Inborn genetic diseases

Predictors split 143

The independent predictors disagree with each other — read with care.

LRP4 p.Ala1130Thr Uncertain significance Multiple submitters
congenital myasthenic syndrome 17
LRP4 p.Arg1136Gln Uncertain significance Multiple submitters
sclerosteosis 2
LRP4 p.Arg1194Gln Uncertain significance Multiple submitters
sclerosteosis 2
LRP4 p.Arg1365Gln Uncertain significance Multiple submitters
Cenani-Lenz syndactyly syndrome
LRP4 p.Arg1498Gln Uncertain significance Multiple submitters
Cenani-Lenz syndactyly syndrome
LRP4 p.Arg1538Gln Benign Multiple submitters
Cenani-Lenz syndactyly syndrome
LRP4 p.Arg1567Trp Uncertain significance Multiple submitters
Cenani-Lenz syndactyly syndrome
LRP4 p.Arg1588Trp Uncertain significance Multiple submitters
Cenani-Lenz syndactyly syndrome
LRP4 p.Arg202His Uncertain significance Multiple submitters
Inborn genetic diseases
LRP4 p.Arg232Ser Uncertain significance Multiple submitters
congenital myasthenic syndrome 17
LRP4 p.Arg249His Uncertain significance Multiple submitters
Inborn genetic diseases
LRP4 p.Arg385Trp Uncertain significance Multiple submitters
Cenani-Lenz syndactyly syndrome
LRP4 p.Arg430Trp Uncertain significance Multiple submitters
congenital myasthenic syndrome 17
LRP4 p.Arg457Cys Uncertain significance Multiple submitters
Cenani-Lenz syndactyly syndrome
LRP4 p.Arg491Gln Uncertain significance Multiple submitters
congenital myasthenic syndrome 17
LRP4 p.Arg494His Uncertain significance Multiple submitters
congenital myasthenic syndrome 17
LRP4 p.Arg610Cys Benign/Likely benign Multiple submitters
sclerosteosis 2
LRP4 p.Arg611His Uncertain significance Multiple submitters
congenital myasthenic syndrome 17
LRP4 p.Arg753His Uncertain significance Multiple submitters
sclerosteosis 2
LRP4 p.Arg860His Uncertain significance Multiple submitters
congenital myasthenic syndrome 17
LRP4 p.Arg86Pro Uncertain significance Multiple submitters
sclerosteosis 2
LRP4 p.Arg916His Uncertain significance Multiple submitters
sclerosteosis 2
LRP4 p.Arg979Gln Uncertain significance Multiple submitters
sclerosteosis 2
LRP4 p.Arg997His Uncertain significance Multiple submitters
congenital myasthenic syndrome 17
LRP4 p.Asn498His Uncertain significance Multiple submitters
Cenani-Lenz syndactyly syndrome
LRP4 p.Asn664Asp Uncertain significance Multiple submitters
congenital myasthenic syndrome 17
LRP4 p.Asn857Thr Uncertain significance Multiple submitters
Cenani-Lenz syndactyly syndrome
LRP4 p.Asp62Asn Uncertain significance Multiple submitters
Inborn genetic diseases
LRP4 p.Glu1116Lys Uncertain significance Multiple submitters
Inborn genetic diseases
LRP4 p.Glu1233Ala Pathogenic/Likely pathogenic Multiple submitters
Cenani-Lenz syndactyly syndrome
LRP4 p.Glu1233Lys Uncertain significance Multiple submitters
congenital myasthenic syndrome 17
LRP4 p.Glu504Lys Uncertain significance Multiple submitters
Cenani-Lenz syndactyly syndrome
LRP4 p.Gly1319Ser Uncertain significance Multiple submitters
Cenani-Lenz syndactyly syndrome
LRP4 p.Gly1515Ala Uncertain significance Multiple submitters
LRP4-related disorder
LRP4 p.Gly158Arg Uncertain significance Multiple submitters
sclerosteosis 2
LRP4 p.Gly169Ser Uncertain significance Multiple submitters
sclerosteosis 2
LRP4 p.Gly28Asp Uncertain significance Multiple submitters
sclerosteosis 2
LRP4 p.Gly58Arg Uncertain significance Multiple submitters
Cenani-Lenz syndactyly syndrome
LRP4 p.Gly609Arg Uncertain significance Multiple submitters
congenital myasthenic syndrome 17
LRP4 p.Gly92Arg Uncertain significance Multiple submitters
Cenani-Lenz syndactyly syndrome
LRP4 p.Leu497Arg Uncertain significance Multiple submitters
congenital myasthenic syndrome 17
LRP4 p.Pro1251Leu Uncertain significance Multiple submitters
Cenani-Lenz syndactyly syndrome
LRP4 p.Pro641Leu Uncertain significance Multiple submitters
sclerosteosis 2
LRP4 p.Pro946Arg Uncertain significance Multiple submitters
congenital myasthenic syndrome 17
LRP4 p.Ser1200Leu Uncertain significance Multiple submitters
sclerosteosis 2
LRP4 p.Ser1359Thr Uncertain significance Multiple submitters
Cenani-Lenz syndactyly syndrome
LRP4 p.Ser1460Phe Uncertain significance Multiple submitters
sclerosteosis 2
LRP4 p.Ser1733Asn Uncertain significance Multiple submitters
sclerosteosis 2
LRP4 p.Thr1282Pro Uncertain significance Multiple submitters
Cenani-Lenz syndactyly syndrome
LRP4 p.Thr710Met Uncertain significance Multiple submitters
Inborn genetic diseases
LRP4 p.Ala1130Val Uncertain significance Single submitter
sclerosteosis 2
LRP4 p.Ala1334Val Uncertain significance Single submitter
LRP4 p.Ala445Thr Uncertain significance Single submitter
Cenani-Lenz syndactyly syndrome
LRP4 p.Ala891Ser Uncertain significance Single submitter
Inborn genetic diseases
LRP4 p.Ala920Thr Uncertain significance Single submitter
sclerosteosis 2
LRP4 p.Arg1327Trp Uncertain significance Single submitter
Cenani-Lenz syndactyly syndrome
LRP4 p.Arg1411Gln Uncertain significance Single submitter
congenital myasthenic syndrome 17
LRP4 p.Arg154His Uncertain significance Single submitter
sclerosteosis 2
LRP4 p.Arg29Trp Uncertain significance Single submitter
Inborn genetic diseases
LRP4 p.Arg427Trp Uncertain significance Single submitter
Cenani-Lenz syndactyly syndrome
LRP4 p.Arg431His Uncertain significance Single submitter
Inborn genetic diseases
LRP4 p.Arg578His Uncertain significance Single submitter
Cenani-Lenz syndactyly syndrome
LRP4 p.Arg694His Uncertain significance Single submitter
congenital myasthenic syndrome 17
LRP4 p.Arg754Gln Uncertain significance Single submitter
Cenani-Lenz syndactyly syndrome
LRP4 p.Arg773His Conflicting Single submitter
Cenani-Lenz syndactyly syndrome
LRP4 p.Arg86His Conflicting Single submitter
congenital myasthenic syndrome 17
LRP4 p.Arg86Leu Uncertain significance Single submitter
congenital myasthenic syndrome 17
LRP4 p.Arg957His Uncertain significance Single submitter
Inborn genetic diseases
LRP4 p.Arg973Leu Benign Single submitter
Cenani-Lenz syndactyly syndrome
LRP4 p.Asn245Ile Uncertain significance Single submitter
Cenani-Lenz syndactyly syndrome
LRP4 p.Asn446Ser Uncertain significance Single submitter
congenital myasthenic syndrome 17
LRP4 p.Asn552Tyr Conflicting Single submitter
Cenani-Lenz syndactyly syndrome
LRP4 p.Asn94Ser Uncertain significance Single submitter
congenital myasthenic syndrome 17
LRP4 p.Asp1303Ala Uncertain significance Single submitter
sclerosteosis 2
LRP4 p.Asp1373Gly Uncertain significance Single submitter
congenital myasthenic syndrome 17
LRP4 p.Asp1376Ala Uncertain significance Single submitter
LRP4 p.Asp137Asn Likely pathogenic Single submitter
sclerosteosis 2
LRP4 p.Asp213Asn Uncertain significance Single submitter
sclerosteosis 2
LRP4 p.Asp336Glu Uncertain significance Single submitter
congenital myasthenic syndrome 17
LRP4 p.Asp54Glu Uncertain significance Single submitter
Cenani-Lenz syndactyly syndrome
LRP4 p.Asp64Gly Uncertain significance Single submitter
congenital myasthenic syndrome 17
LRP4 p.Asp741His Uncertain significance Single submitter
LRP4 p.Cys1842Arg Uncertain significance Single submitter
Cenani-Lenz syndactyly syndrome
LRP4 p.Gln142Lys Uncertain significance Single submitter
Inborn genetic diseases
LRP4 p.Gln48Arg Uncertain significance Single submitter
sclerosteosis 2
LRP4 p.Gln807Pro Uncertain significance Single submitter
Cenani-Lenz syndactyly syndrome
LRP4 p.Glu1420Lys Uncertain significance Single submitter
congenital myasthenic syndrome 17
LRP4 p.Glu1472Lys Uncertain significance Single submitter
LRP4 p.Glu511Ala Uncertain significance Single submitter
Inborn genetic diseases
LRP4 p.Gly1515Asp Uncertain significance Single submitter
Inborn genetic diseases
LRP4 p.Gly1729Val Uncertain significance Single submitter
Inborn genetic diseases
LRP4 p.Gly18Asp Uncertain significance Single submitter
Inborn genetic diseases
LRP4 p.Gly870Cys Uncertain significance Single submitter
Inborn genetic diseases
LRP4 p.Gly955Arg Uncertain significance Single submitter
sclerosteosis 2
LRP4 p.His1840Leu Uncertain significance Single submitter
Inborn genetic diseases
LRP4 p.His619Tyr Uncertain significance Single submitter
Cenani-Lenz syndactyly syndrome
LRP4 p.His734Pro Uncertain significance Single submitter
sclerosteosis 2
LRP4 p.Ile1809Asn Uncertain significance Single submitter
Cenani-Lenz syndactyly syndrome
LRP4 p.Ile797Val Uncertain significance Single submitter
LRP4 p.Leu1123Ile Uncertain significance Single submitter
congenital myasthenic syndrome 17
LRP4 p.Leu1325Phe Uncertain significance Single submitter
congenital myasthenic syndrome 17
LRP4 p.Lys1777Asn Uncertain significance Single submitter
congenital myasthenic syndrome 17
LRP4 p.Lys546Arg Uncertain significance Single submitter
Inborn genetic diseases
LRP4 p.Lys925Arg Uncertain significance Single submitter
Cenani-Lenz syndactyly syndrome
LRP4 p.Met1047Ile Uncertain significance Single submitter
Cenani-Lenz syndactyly syndrome
LRP4 p.Met873Val Uncertain significance Single submitter
Cenani-Lenz syndactyly syndrome
LRP4 p.Phe598Ile Uncertain significance Single submitter
congenital myasthenic syndrome 17
LRP4 p.Phe598Leu Uncertain significance Single submitter
congenital myasthenic syndrome 17
LRP4 p.Phe929Cys Uncertain significance Single submitter
Cenani-Lenz syndactyly syndrome
LRP4 p.Pro1021Arg Uncertain significance Single submitter
sclerosteosis 2
LRP4 p.Pro1023Thr Uncertain significance Single submitter
sclerosteosis 2
LRP4 p.Pro1380Arg Uncertain significance Single submitter
Inborn genetic diseases
LRP4 p.Pro577Ser Uncertain significance Single submitter
Inborn genetic diseases
LRP4 p.Pro715Arg Uncertain significance Single submitter
Cenani-Lenz syndactyly syndrome
LRP4 p.Pro73Leu Uncertain significance Single submitter
LRP4 p.Ser1113Leu Uncertain significance Single submitter
congenital myasthenic syndrome 17
LRP4 p.Ser1168Arg Uncertain significance Single submitter
sclerosteosis 2
LRP4 p.Ser1368Pro Uncertain significance Single submitter
congenital myasthenic syndrome 17
LRP4 p.Ser1772Tyr Uncertain significance Single submitter
Inborn genetic diseases
LRP4 p.Ser512Asn Uncertain significance Single submitter
LRP4 p.Ser512Ile Uncertain significance Single submitter
Cenani-Lenz syndactyly syndrome
LRP4 p.Ser630Gly Uncertain significance Single submitter
Inborn genetic diseases
LRP4 p.Ser662Asn Uncertain significance Single submitter
Cenani-Lenz syndactyly syndrome
LRP4 p.Ser665Gly Uncertain significance Single submitter
congenital myasthenic syndrome 17
LRP4 p.Ser72Thr Uncertain significance Single submitter
congenital myasthenic syndrome 17
LRP4 p.Ser814Ile Uncertain significance Single submitter
congenital myasthenic syndrome 17
LRP4 p.Ser87Phe Uncertain significance Single submitter
congenital myasthenic syndrome 17
LRP4 p.Thr1143Met Uncertain significance Single submitter
sclerosteosis 2
LRP4 p.Thr1447Arg Uncertain significance Single submitter
Inborn genetic diseases
LRP4 p.Thr1592Ser Uncertain significance Single submitter
Inborn genetic diseases
LRP4 p.Thr488Ile Uncertain significance Single submitter
Cenani-Lenz syndactyly syndrome
LRP4 p.Thr794Ile Uncertain significance Single submitter
Cenani-Lenz syndactyly syndrome
LRP4 p.Tyr1524His Uncertain significance Single submitter
Inborn genetic diseases
LRP4 p.Tyr200Cys Uncertain significance Single submitter
Inborn genetic diseases
LRP4 p.Tyr200Phe Uncertain significance Single submitter
congenital myasthenic syndrome 17
LRP4 p.Val1776Met Uncertain significance Single submitter
Inborn genetic diseases
LRP4 p.Val396Glu Uncertain significance Single submitter
Cenani-Lenz syndactyly syndrome
LRP4 p.Val842Ala Uncertain significance Single submitter
Inborn genetic diseases
LRP4 p.Val865Glu Uncertain significance Single submitter
congenital myasthenic syndrome 17
LRP4 p.Val939Met Uncertain significance Single submitter
congenital myasthenic syndrome 17
LRP4 p.Asp449Asn Pathogenic No assertion criteria
Cenani-Lenz syndactyly syndrome
LRP4 p.Gln1564Lys Likely pathogenic No assertion criteria
Isolated hand syndactyly
LRP4 p.Pro715Ser Uncertain significance No assertion criteria
Meniere disease

All LRP4 variants

Pathogenic 20

c.316+1G>A Multiple submitters Other rare neuromuscular disorders
p.Gln944Ter Multiple submitters sclerosteosis 2
c.2613-2A>T Single submitter LRP4-related disorder
p.Ala617fs Single submitter Cenani-Lenz syndactyly syndrome
p.Arg1770Ter Single submitter congenital myasthenic syndrome 17
p.Arg754Ter Single submitter sclerosteosis 2
p.Arg886Ter Single submitter Cenani-Lenz syndactyly syndrome
p.Asn1467fs Single submitter Cenani-Lenz syndactyly syndrome
p.Gln1300Ter Single submitter Cenani-Lenz syndactyly syndrome
p.Glu956Ter Single submitter Cenani-Lenz syndactyly syndrome
p.Thr833fs Single submitter Cenani-Lenz syndactyly syndrome
p.Trp1183Ter Single submitter sclerosteosis 2
p.Val1739fs Single submitter Cenani-Lenz syndactyly syndrome
p.Val376fs Single submitter Cenani-Lenz syndactyly syndrome
c.200-9G>A No assertion criteria Cenani-Lenz syndactyly syndrome
p.Asp449Asn No assertion criteria Cenani-Lenz syndactyly syndrome ⚠
p.Asp529Asn No assertion criteria Cenani-Lenz syndactyly syndrome
p.Cys160Tyr No assertion criteria Cenani-Lenz syndactyly syndrome
p.Gly1653= No assertion criteria Cenani-Lenz syndactyly syndrome
p.Thr461Pro No assertion criteria Cenani-Lenz syndactyly syndrome

Pathogenic/Likely pathogenic 1

p.Glu1233Ala Multiple submitters Cenani-Lenz syndactyly syndrome ⚠

Likely pathogenic 28

c.547+1G>A Multiple submitters sclerosteosis 2
c.1184-1G>A Single submitter sclerosteosis 2
c.1184-2A>G Single submitter Cenani-Lenz syndactyly syndrome
c.2507-1G>A Single submitter Cenani-Lenz syndactyly syndrome
c.2814+1G>A Single submitter Cenani-Lenz syndactyly syndrome
c.3699+1G>A Single submitter congenital myasthenic syndrome 17
c.677-2A>C Single submitter congenital myasthenic syndrome 17
p.Arg1277Leu Single submitter Cenani-Lenz syndactyly syndrome
p.Arg1425Ter Single submitter congenital myasthenic syndrome 17
p.Arg632Cys Single submitter Cenani-Lenz syndactyly syndrome
p.Arg632His Single submitter LRP4-related disorder
p.Asp137Asn Single submitter sclerosteosis 2 ⚠
p.Asp1396fs Single submitter congenital myasthenic syndrome 17
p.Asp300Asn Single submitter Cenani-Lenz syndactyly syndrome
p.Asp99His Single submitter congenital myasthenic syndrome 17
p.Cys324fs Single submitter congenital myasthenic syndrome 17
p.Gln738Ter Single submitter congenital myasthenic syndrome 17
p.Glu503fs Single submitter congenital myasthenic syndrome 17
p.Ile1409fs Single submitter
p.Ser763fs Single submitter
p.Trp1487Ter Single submitter Autosomal recessive LRP4-related disorders
p.Trp419Ter Single submitter congenital myasthenic syndrome 17
p.Trp520Ter Single submitter sclerosteosis 2
c.317-1G>C No assertion criteria LRP4-related disorder
c.4230-2A>T No assertion criteria LRP4-related disorder
p.Asp1403His No assertion criteria Isolated hand syndactyly
p.Gln1564Lys No assertion criteria Isolated hand syndactyly ⚠
p.Gln197fs No assertion criteria LRP4-related disorder

Conflicting classifications of pathogenicity 63

c.1048+7G>T Single submitter Cenani-Lenz syndactyly syndrome
c.2092+18G>A Single submitter Cenani-Lenz syndactyly syndrome
c.2216-13G>A Single submitter sclerosteosis 2
c.2815-6T>G Single submitter congenital myasthenic syndrome 17
c.3278-6C>T Single submitter Cenani-Lenz syndactyly syndrome
c.430+16G>A Single submitter sclerosteosis 2
c.5087+13A>G Single submitter Cenani-Lenz syndactyly syndrome
c.676+13G>A Single submitter Cenani-Lenz syndactyly syndrome
c.922+13G>A Single submitter Cenani-Lenz syndactyly syndrome
p.Ala1439= Single submitter congenital myasthenic syndrome 17
p.Ala1630= Single submitter Cenani-Lenz syndactyly syndrome
p.Ala517= Single submitter sclerosteosis 2
p.Ala775= Single submitter congenital myasthenic syndrome 17
p.Arg1158Trp Single submitter Cenani-Lenz syndactyly syndrome ⚠
p.Arg1170Gln Single submitter Cenani-Lenz syndactyly syndrome ⚠
p.Arg1273= Single submitter Cenani-Lenz syndactyly syndrome
p.Arg545Trp Single submitter sclerosteosis 2 ⚠
p.Arg773His Single submitter Cenani-Lenz syndactyly syndrome ⚠
p.Arg86His Single submitter congenital myasthenic syndrome 17 ⚠
p.Arg973= Single submitter Cenani-Lenz syndactyly syndrome
p.Asn1022Asp Single submitter Cenani-Lenz syndactyly syndrome ⚠
p.Asn1207Ser Single submitter Cenani-Lenz syndactyly syndrome ⚠
p.Asn1415= Single submitter Cenani-Lenz syndactyly syndrome
p.Asn1468= Single submitter Cenani-Lenz syndactyly syndrome
p.Asn552Tyr Single submitter Cenani-Lenz syndactyly syndrome ⚠
p.Asn94= Single submitter Cenani-Lenz syndactyly syndrome
p.Asp130= Single submitter Cenani-Lenz syndactyly syndrome
p.Asp1431= Single submitter Cenani-Lenz syndactyly syndrome
p.Asp1641= Single submitter Cenani-Lenz syndactyly syndrome
p.Asp213= Single submitter sclerosteosis 2
p.Asp253= Single submitter Cenani-Lenz syndactyly syndrome
p.Asp704= Single submitter Cenani-Lenz syndactyly syndrome
p.Cys250= Single submitter Cenani-Lenz syndactyly syndrome
p.Cys44= Single submitter Cenani-Lenz syndactyly syndrome
p.Gln311= Single submitter Cenani-Lenz syndactyly syndrome
p.Glu180Gly Single submitter Inborn genetic diseases ⚠
p.Glu398= Single submitter Cenani-Lenz syndactyly syndrome
p.Glu956= Single submitter Cenani-Lenz syndactyly syndrome
p.His1840= Single submitter sclerosteosis 2
p.His596Arg Single submitter Cenani-Lenz syndactyly syndrome ⚠
p.Ile1603Val Single submitter congenital myasthenic syndrome 17 ⚠
p.Ile448Val Single submitter Inborn genetic diseases ⚠
p.Leu497= Single submitter Cenani-Lenz syndactyly syndrome
p.Leu986= Single submitter Cenani-Lenz syndactyly syndrome
p.Lys1777Thr Single submitter Cenani-Lenz syndactyly syndrome
p.Phe1053= Single submitter sclerosteosis 2
p.Phe644= Single submitter Cenani-Lenz syndactyly syndrome
p.Pro1255= Single submitter Cenani-Lenz syndactyly syndrome
p.Pro1782= Single submitter Cenani-Lenz syndactyly syndrome
p.Pro190= Single submitter Cenani-Lenz syndactyly syndrome
p.Pro428= Single submitter Cenani-Lenz syndactyly syndrome
p.Ser1098Thr Single submitter epilepsy ⚠
p.Ser1315Leu Single submitter Cenani-Lenz syndactyly syndrome ⚠
p.Ser1633Leu Single submitter congenital myasthenic syndrome 17 ⚠
p.Ser1887Cys Single submitter sclerosteosis 2 ⚠
p.Thr1143= Single submitter Cenani-Lenz syndactyly syndrome
p.Thr1512= Single submitter Cenani-Lenz syndactyly syndrome
p.Thr267= Single submitter congenital myasthenic syndrome 17
p.Thr392Met Single submitter Cenani-Lenz syndactyly syndrome ⚠
p.Thr528= Single submitter sclerosteosis 2
p.Thr670= Single submitter Cenani-Lenz syndactyly syndrome
p.Thr845= Single submitter Cenani-Lenz syndactyly syndrome
p.Trp1186Ser Single submitter sclerosteosis 2 ⚠

Benign 67

c.1309+24G>A Multiple submitters sclerosteosis 2
c.1540+147A>G Multiple submitters
c.1915+47C>G Multiple submitters
c.1916-33G>A Multiple submitters
c.199+160A>T Multiple submitters
c.199+239C>T Multiple submitters
c.2092+38A>G Multiple submitters
c.2093-15dup Multiple submitters Cenani-Lenz syndactyly syndrome
c.2216-166G>A Multiple submitters
c.2424+49G>A Multiple submitters
c.2815-290T>A Multiple submitters
c.3004+18C>A Multiple submitters Cenani-Lenz syndactyly syndrome
c.3136+178T>C Multiple submitters
c.3277+155C>T Multiple submitters
c.3536+22C>A Multiple submitters congenital myasthenic syndrome 17
c.3700-21C>G Multiple submitters sclerosteosis 2
c.3925+99C>G Multiple submitters
c.3926-133T>A Multiple submitters
c.4229+225C>A Multiple submitters
c.4230-162A>G Multiple submitters
c.4230-234C>T Multiple submitters
c.4838-124G>C Multiple submitters
c.4952-48A>G Multiple submitters
c.4952-54A>G Multiple submitters
c.5243+124C>T Multiple submitters
c.5244-149G>A Multiple submitters
c.797-32C>T Multiple submitters
c.923-97C>T Multiple submitters
c.*1017C>T Multiple submitters Cenani-Lenz syndactyly syndrome
c.*561T>C Multiple submitters Cenani-Lenz syndactyly syndrome
p.Ala1203Val Multiple submitters Cenani-Lenz syndactyly syndrome
p.Arg1538Gln Multiple submitters Cenani-Lenz syndactyly syndrome ⚠
p.Phe1635= Multiple submitters Cenani-Lenz syndactyly syndrome
p.Ser100= Multiple submitters Cenani-Lenz syndactyly syndrome
p.Ser1554Gly Multiple submitters sclerosteosis 2
p.Val1670= Multiple submitters Cenani-Lenz syndactyly syndrome
c.1184-153C>T Single submitter
c.1184-200C>G Single submitter
c.1309+87_1309+91dup Single submitter
c.1541-237G>C Single submitter
c.200-204G>C Single submitter
c.2215+318G>C Single submitter
c.2507-204C>T Single submitter
c.2507-311T>C Single submitter
c.2612+104T>A Single submitter
c.2612+188C>G Single submitter
c.3137-231G>A Single submitter
c.317-114C>T Single submitter
c.3278-53del Single submitter
c.3536+147C>T Single submitter
c.3536+152G>A Single submitter
c.3536+16A>T Single submitter Cenani-Lenz syndactyly syndrome
c.3536+177_3536+178del Single submitter
c.3536+225G>C Single submitter
c.3536+230A>G Single submitter
c.4584-314G>T Single submitter
c.53-185G>C Single submitter
c.53-312G>A Single submitter
c.796+214G>T Single submitter
c.796+301C>G Single submitter
c.*1151C>T Single submitter Cenani-Lenz syndactyly syndrome
c.*1445A>G Single submitter Cenani-Lenz syndactyly syndrome
c.*1627A>G Single submitter Cenani-Lenz syndactyly syndrome
c.*2080T>C Single submitter Cenani-Lenz syndactyly syndrome
c.*2252G>A Single submitter Cenani-Lenz syndactyly syndrome
p.Ala47= Single submitter Cenani-Lenz syndactyly syndrome
p.Arg973Leu Single submitter Cenani-Lenz syndactyly syndrome ⚠

Benign/Likely benign 34

c.2092+17C>T Multiple submitters Cenani-Lenz syndactyly syndrome
c.2506+17C>T Multiple submitters Cenani-Lenz syndactyly syndrome
c.2506+18G>A Multiple submitters Cenani-Lenz syndactyly syndrome
c.2814+13_2814+35del Multiple submitters sclerosteosis 2
c.430+15C>T Multiple submitters sclerosteosis 2
c.431-12G>A Multiple submitters sclerosteosis 2
c.431-8C>T Multiple submitters Cenani-Lenz syndactyly syndrome
c.4837+10C>T Multiple submitters Cenani-Lenz syndactyly syndrome
c.4951+10A>G Multiple submitters Cenani-Lenz syndactyly syndrome
c.4951+13G>C Multiple submitters Cenani-Lenz syndactyly syndrome
c.677-14T>C Multiple submitters Cenani-Lenz syndactyly syndrome
c.*261C>A Multiple submitters Cenani-Lenz syndactyly syndrome
c.*54G>A Multiple submitters Cenani-Lenz syndactyly syndrome
p.Arg1646Gln Multiple submitters sclerosteosis 2
p.Arg373Trp Multiple submitters Cenani-Lenz syndactyly syndrome
p.Arg610Cys Multiple submitters sclerosteosis 2 ⚠
p.Asn335= Multiple submitters Cenani-Lenz syndactyly syndrome
p.Asn397= Multiple submitters Cenani-Lenz syndactyly syndrome
p.Asn498= Multiple submitters Cenani-Lenz syndactyly syndrome
p.Asn501His Multiple submitters Cenani-Lenz syndactyly syndrome
p.Asp541= Multiple submitters sclerosteosis 2
p.Cys129= Multiple submitters Cenani-Lenz syndactyly syndrome
p.Glu565= Multiple submitters sclerosteosis 2
p.Gly333Arg Multiple submitters Cenani-Lenz syndactyly syndrome
p.Gly717= Multiple submitters sclerosteosis 2
p.His1558= Multiple submitters Cenani-Lenz syndactyly syndrome
p.Ile1086Val Multiple submitters sclerosteosis 2
p.Leu1722His Multiple submitters Cenani-Lenz syndactyly syndrome
p.Leu314Ser Multiple submitters sclerosteosis 2
p.Lys546= Multiple submitters sclerosteosis 2
p.Pro455= Multiple submitters sclerosteosis 2
p.Ser1315= Multiple submitters Cenani-Lenz syndactyly syndrome
p.Thr271= Multiple submitters sclerosteosis 2
p.Thr43= Multiple submitters Cenani-Lenz syndactyly syndrome

Likely benign 534

Showing the top 300 by review status; the full set is in the sitemap.

c.1048+20G>A Multiple submitters Cenani-Lenz syndactyly syndrome
c.1049-6G>C Multiple submitters Cenani-Lenz syndactyly syndrome
c.1184-49G>T Multiple submitters
c.1310-7T>A Multiple submitters congenital myasthenic syndrome 17
c.1310-9G>C Multiple submitters congenital myasthenic syndrome 17
c.1915+6C>T Multiple submitters sclerosteosis 2
c.200-26TTTTC[2] Multiple submitters congenital myasthenic syndrome 17
c.2216-14C>T Multiple submitters congenital myasthenic syndrome 17
c.2424+13G>A Multiple submitters Cenani-Lenz syndactyly syndrome
c.2425-20C>T Multiple submitters Cenani-Lenz syndactyly syndrome
c.2814+30G>A Multiple submitters
c.3004+18C>T Multiple submitters Cenani-Lenz syndactyly syndrome
c.3004+19G>T Multiple submitters sclerosteosis 2
c.3136+10A>G Multiple submitters sclerosteosis 2
c.3277+140T>C Multiple submitters
c.3278-152C>G Multiple submitters
c.3278-8C>T Multiple submitters sclerosteosis 2
c.4229+57G>A Multiple submitters
c.4230-109C>T Multiple submitters
c.430+32G>T Multiple submitters
c.431-3del Multiple submitters Cenani-Lenz syndactyly syndrome
c.4584-15T>C Multiple submitters Cenani-Lenz syndactyly syndrome
c.4584-4G>A Multiple submitters Cenani-Lenz syndactyly syndrome
c.4693-11C>T Multiple submitters Cenani-Lenz syndactyly syndrome
c.4837+112A>C Multiple submitters
c.5088-20C>T Multiple submitters Cenani-Lenz syndactyly syndrome
c.53-7C>T Multiple submitters Cenani-Lenz syndactyly syndrome
c.5386-4C>G Multiple submitters Cenani-Lenz syndactyly syndrome
c.922+225G>C Multiple submitters
p.Ala1130= Multiple submitters sclerosteosis 2
p.Ala1561= Multiple submitters Cenani-Lenz syndactyly syndrome
p.Ala1852= Multiple submitters congenital myasthenic syndrome 17
p.Ala470= Multiple submitters Cenani-Lenz syndactyly syndrome
p.Arg447= Multiple submitters sclerosteosis 2
p.Arg479= Multiple submitters sclerosteosis 2
p.Asn1418= Multiple submitters Cenani-Lenz syndactyly syndrome
p.Asp1065= Multiple submitters Cenani-Lenz syndactyly syndrome
p.Asp1089= Multiple submitters Cenani-Lenz syndactyly syndrome
p.Asp113= Multiple submitters Cenani-Lenz syndactyly syndrome
p.Asp1370= Multiple submitters sclerosteosis 2
p.Asp293= Multiple submitters Cenani-Lenz syndactyly syndrome
p.Asp342= Multiple submitters Cenani-Lenz syndactyly syndrome
p.Asp59= Multiple submitters Cenani-Lenz syndactyly syndrome
p.Asp812= Multiple submitters Cenani-Lenz syndactyly syndrome
p.Asp91= Multiple submitters Cenani-Lenz syndactyly syndrome
p.Cys1313= Multiple submitters Cenani-Lenz syndactyly syndrome
p.Gln142= Multiple submitters congenital myasthenic syndrome 17
p.Gly1128= Multiple submitters congenital myasthenic syndrome 17
p.Gly212= Multiple submitters sclerosteosis 2
p.His1176= Multiple submitters sclerosteosis 2
p.Ile1604= Multiple submitters sclerosteosis 2
p.Ile448= Multiple submitters congenital myasthenic syndrome 17
p.Ile605= Multiple submitters sclerosteosis 2
p.Leu1470= Multiple submitters Cenani-Lenz syndactyly syndrome
p.Met1786Lys Multiple submitters Cenani-Lenz syndactyly syndrome
p.Pro1350= Multiple submitters Cenani-Lenz syndactyly syndrome
p.Pro23= Multiple submitters Cenani-Lenz syndactyly syndrome
p.Ser1195= Multiple submitters Cenani-Lenz syndactyly syndrome
p.Ser149= Multiple submitters sclerosteosis 2
p.Ser341= Multiple submitters Cenani-Lenz syndactyly syndrome
p.Ser533= Multiple submitters congenital myasthenic syndrome 17
p.Ser970= Multiple submitters Cenani-Lenz syndactyly syndrome
p.Thr1232= Multiple submitters Cenani-Lenz syndactyly syndrome
p.Thr1688= Multiple submitters sclerosteosis 2
p.Thr171= Multiple submitters Cenani-Lenz syndactyly syndrome
p.Thr965= Multiple submitters Cenani-Lenz syndactyly syndrome
p.Tyr208= Multiple submitters sclerosteosis 2
p.Tyr569= Multiple submitters Cenani-Lenz syndactyly syndrome
p.Val1252= Multiple submitters Cenani-Lenz syndactyly syndrome
c.1048+13A>G Single submitter congenital myasthenic syndrome 17
c.1049-10G>C Single submitter Cenani-Lenz syndactyly syndrome
c.1049-20C>T Single submitter Cenani-Lenz syndactyly syndrome
c.1184-12T>C Single submitter sclerosteosis 2
c.1184-16_1184-14del Single submitter Cenani-Lenz syndactyly syndrome
c.1184-18C>T Single submitter Cenani-Lenz syndactyly syndrome
c.1184-5C>T Single submitter sclerosteosis 2
c.1309+15C>T Single submitter Cenani-Lenz syndactyly syndrome
c.1310-20A>G Single submitter Cenani-Lenz syndactyly syndrome
c.1540+13G>A Single submitter Cenani-Lenz syndactyly syndrome
c.1540+17C>A Single submitter Cenani-Lenz syndactyly syndrome
c.1540+18A>G Single submitter congenital myasthenic syndrome 17
c.1540+8A>G Single submitter sclerosteosis 2
c.1540+9C>T Single submitter Cenani-Lenz syndactyly syndrome
c.1541-16T>C Single submitter Cenani-Lenz syndactyly syndrome
c.1697+133C>G Single submitter
c.1697+16G>C Single submitter Cenani-Lenz syndactyly syndrome
c.1697+19T>C Single submitter congenital myasthenic syndrome 17
c.1698-31C>T Single submitter
c.1698-4C>T Single submitter sclerosteosis 2
c.1698-7T>C Single submitter Cenani-Lenz syndactyly syndrome
c.1915+10T>A Single submitter Cenani-Lenz syndactyly syndrome
c.1915+10T>C Single submitter Cenani-Lenz syndactyly syndrome
c.1915+17A>G Single submitter Cenani-Lenz syndactyly syndrome
c.1915+8C>A Single submitter Cenani-Lenz syndactyly syndrome
c.199+12C>T Single submitter Cenani-Lenz syndactyly syndrome
c.199+13C>T Single submitter
c.200-265C>A Single submitter
c.200-26TTTTC[4] Single submitter Cenani-Lenz syndactyly syndrome
c.2092+12C>T Single submitter Cenani-Lenz syndactyly syndrome
c.2092+19G>C Single submitter Cenani-Lenz syndactyly syndrome
c.2092+20G>C Single submitter Cenani-Lenz syndactyly syndrome
c.2093-12C>A Single submitter Cenani-Lenz syndactyly syndrome
c.2093-16T>C Single submitter Cenani-Lenz syndactyly syndrome
c.2093-17C>T Single submitter Cenani-Lenz syndactyly syndrome
c.2093-18C>G Single submitter sclerosteosis 2
c.2093-19C>T Single submitter Cenani-Lenz syndactyly syndrome
c.2093-20G>T Single submitter Cenani-Lenz syndactyly syndrome
c.2216-18C>T Single submitter Cenani-Lenz syndactyly syndrome
c.2216-20C>A Single submitter Cenani-Lenz syndactyly syndrome
c.2216-6G>T Single submitter
c.2424+12C>T Single submitter Cenani-Lenz syndactyly syndrome
c.2424+15G>T Single submitter Cenani-Lenz syndactyly syndrome
c.2424+18G>T Single submitter congenital myasthenic syndrome 17
c.2424+7C>G Single submitter
c.2425-13G>A Single submitter Cenani-Lenz syndactyly syndrome
c.2425-17C>T Single submitter Cenani-Lenz syndactyly syndrome
c.2425-19A>G Single submitter Cenani-Lenz syndactyly syndrome
c.2425-4C>G Single submitter congenital myasthenic syndrome 17
c.2425-6G>T Single submitter Cenani-Lenz syndactyly syndrome
c.2425-8C>G Single submitter Cenani-Lenz syndactyly syndrome
c.2506+11_2506+12insT Single submitter Cenani-Lenz syndactyly syndrome
c.2506+11G>A Single submitter Cenani-Lenz syndactyly syndrome
c.2506+139G>A Single submitter
c.2506+15G>A Single submitter sclerosteosis 2
c.2506+7A>G Single submitter sclerosteosis 2
c.2506+8T>A Single submitter Cenani-Lenz syndactyly syndrome
c.2506+8T>C Single submitter Cenani-Lenz syndactyly syndrome
c.2507-11C>T Single submitter Cenani-Lenz syndactyly syndrome
c.2507-4A>G Single submitter Cenani-Lenz syndactyly syndrome
c.2507-7T>C Single submitter Cenani-Lenz syndactyly syndrome
c.2612+12C>T Single submitter Cenani-Lenz syndactyly syndrome
c.2612+15C>T Single submitter Cenani-Lenz syndactyly syndrome
c.2612+206C>T Single submitter
c.2613-11_2613-7dup Single submitter Cenani-Lenz syndactyly syndrome
c.2613-11C>A Single submitter Cenani-Lenz syndactyly syndrome
c.2814+10del Single submitter Cenani-Lenz syndactyly syndrome
c.2814+16A>C Single submitter Cenani-Lenz syndactyly syndrome
c.2814+17_2814+39del Single submitter Cenani-Lenz syndactyly syndrome
c.2814+18A>G Single submitter sclerosteosis 2
c.2814+7G>A Single submitter Cenani-Lenz syndactyly syndrome
c.2814+9G>A Single submitter Cenani-Lenz syndactyly syndrome
c.2815-16G>A Single submitter Cenani-Lenz syndactyly syndrome
c.2815-20_2815-17dup Single submitter Cenani-Lenz syndactyly syndrome
c.3004+13T>C Single submitter sclerosteosis 2
c.3004+14G>C Single submitter Cenani-Lenz syndactyly syndrome
c.3004+19G>A Single submitter Cenani-Lenz syndactyly syndrome
c.3005-12_3005-10del Single submitter congenital myasthenic syndrome 17
c.3005-12C>T Single submitter Cenani-Lenz syndactyly syndrome
c.3005-17C>T Single submitter congenital myasthenic syndrome 17
c.3005-18C>T Single submitter congenital myasthenic syndrome 17
c.3005-4C>T Single submitter Cenani-Lenz syndactyly syndrome
c.3005-8C>T Single submitter Cenani-Lenz syndactyly syndrome
c.3136+16A>G Single submitter congenital myasthenic syndrome 17
c.3137-13C>T Single submitter Cenani-Lenz syndactyly syndrome
c.3137-15del Single submitter sclerosteosis 2
c.3137-4dup Single submitter sclerosteosis 2
c.3137-4G>A Single submitter Cenani-Lenz syndactyly syndrome
c.3137-4G>C Single submitter Cenani-Lenz syndactyly syndrome
c.3137-8C>T Single submitter Cenani-Lenz syndactyly syndrome
c.317-11T>C Single submitter congenital myasthenic syndrome 17
c.317-12C>G Single submitter sclerosteosis 2
c.317-19G>A Single submitter Cenani-Lenz syndactyly syndrome
c.3277+11C>T Single submitter Cenani-Lenz syndactyly syndrome
c.3277+13C>T Single submitter Cenani-Lenz syndactyly syndrome
c.3277+14T>C Single submitter
c.3364+11C>T Single submitter sclerosteosis 2
c.3364+17G>T Single submitter Cenani-Lenz syndactyly syndrome
c.3364+7C>T Single submitter Cenani-Lenz syndactyly syndrome
c.3365-18T>A Single submitter Cenani-Lenz syndactyly syndrome
c.3365-6C>G Single submitter Cenani-Lenz syndactyly syndrome
c.3365-7C>T Single submitter Cenani-Lenz syndactyly syndrome
c.3365-9T>C Single submitter sclerosteosis 2
c.3536+11_3536+12delinsAA Single submitter sclerosteosis 2
c.3536+16A>G Single submitter Cenani-Lenz syndactyly syndrome
c.3536+18C>T Single submitter congenital myasthenic syndrome 17
c.3537-13C>A Single submitter Cenani-Lenz syndactyly syndrome
c.3537-242C>T Single submitter
c.3699+10G>A Single submitter sclerosteosis 2
c.3699+13T>C Single submitter Cenani-Lenz syndactyly syndrome
c.3699+19C>T Single submitter sclerosteosis 2
c.3699+8C>T Single submitter Cenani-Lenz syndactyly syndrome
c.3699+9C>A Single submitter Cenani-Lenz syndactyly syndrome
c.3699+9C>T Single submitter Cenani-Lenz syndactyly syndrome
c.3700-10T>C Single submitter Cenani-Lenz syndactyly syndrome
c.3926-17G>A Single submitter Cenani-Lenz syndactyly syndrome
c.3926-18T>A Single submitter congenital myasthenic syndrome 17
c.3926-5A>G Single submitter Cenani-Lenz syndactyly syndrome
c.4229+11C>T Single submitter Cenani-Lenz syndactyly syndrome
c.4229+15G>A Single submitter Cenani-Lenz syndactyly syndrome
c.4229+20C>G Single submitter Cenani-Lenz syndactyly syndrome
c.4230-10T>C Single submitter Cenani-Lenz syndactyly syndrome
c.4230-12G>A Single submitter congenital myasthenic syndrome 17
c.4230-15T>G Single submitter congenital myasthenic syndrome 17
c.430+7G>A Single submitter Cenani-Lenz syndactyly syndrome
c.431-16C>G Single submitter Cenani-Lenz syndactyly syndrome
c.431-8C>G Single submitter sclerosteosis 2
c.431-9T>A Single submitter sclerosteosis 2
c.4583+15T>A Single submitter Cenani-Lenz syndactyly syndrome
c.4584-14_4584-10del Single submitter Cenani-Lenz syndactyly syndrome
c.4584-16_4584-15del Single submitter Cenani-Lenz syndactyly syndrome
c.4584-36C>T Single submitter
c.4584-5C>T Single submitter congenital myasthenic syndrome 17
c.4693-12C>G Single submitter Cenani-Lenz syndactyly syndrome
c.4693-12C>T Single submitter Cenani-Lenz syndactyly syndrome
c.4693-15T>G Single submitter Cenani-Lenz syndactyly syndrome
c.4693-16T>C Single submitter Cenani-Lenz syndactyly syndrome
c.4693-20G>C Single submitter Cenani-Lenz syndactyly syndrome
c.4837+8C>G Single submitter sclerosteosis 2
c.4838-8G>A Single submitter Cenani-Lenz syndactyly syndrome
c.4952-10T>C Single submitter congenital myasthenic syndrome 17
c.4952-17T>C Single submitter Cenani-Lenz syndactyly syndrome
c.4952-18A>G Single submitter sclerosteosis 2
c.4952-19A>G Single submitter congenital myasthenic syndrome 17
c.4952-20C>A Single submitter sclerosteosis 2
c.5087+12C>T Single submitter congenital myasthenic syndrome 17
c.5087+14A>G Single submitter Cenani-Lenz syndactyly syndrome
c.5087+14A>T Single submitter Cenani-Lenz syndactyly syndrome
c.5088-17T>A Single submitter Cenani-Lenz syndactyly syndrome
c.5088-19A>C Single submitter sclerosteosis 2
c.5088-5C>T Single submitter Cenani-Lenz syndactyly syndrome
c.5088-6C>T Single submitter sclerosteosis 2
c.5155+16C>T Single submitter Cenani-Lenz syndactyly syndrome
c.5155+20C>G Single submitter congenital myasthenic syndrome 17
c.5156-11A>G Single submitter Cenani-Lenz syndactyly syndrome
c.5156-15C>A Single submitter Cenani-Lenz syndactyly syndrome
c.5156-20T>A Single submitter Cenani-Lenz syndactyly syndrome
c.5243+17T>C Single submitter Cenani-Lenz syndactyly syndrome
c.5244-4A>T Single submitter Cenani-Lenz syndactyly syndrome
c.5244-6C>T Single submitter Cenani-Lenz syndactyly syndrome
c.53-110G>A Single submitter
c.53-12C>G Single submitter Cenani-Lenz syndactyly syndrome
c.53-15T>C Single submitter Cenani-Lenz syndactyly syndrome
c.53-6G>A Single submitter sclerosteosis 2
c.53-8C>T Single submitter
c.5385+13A>G Single submitter Cenani-Lenz syndactyly syndrome
c.547+14G>A Single submitter Cenani-Lenz syndactyly syndrome
c.547+14G>C Single submitter Cenani-Lenz syndactyly syndrome
c.548-18C>A Single submitter Cenani-Lenz syndactyly syndrome
c.548-19A>C Single submitter congenital myasthenic syndrome 17
c.548-19A>T Single submitter Cenani-Lenz syndactyly syndrome
c.548-20C>A Single submitter Cenani-Lenz syndactyly syndrome
c.548-4C>T Single submitter Cenani-Lenz syndactyly syndrome
c.677-13T>C Single submitter congenital myasthenic syndrome 17
c.677-6C>T Single submitter congenital myasthenic syndrome 17
c.677-7T>G Single submitter Cenani-Lenz syndactyly syndrome
c.796+18A>T Single submitter Cenani-Lenz syndactyly syndrome
c.796+20T>C Single submitter Cenani-Lenz syndactyly syndrome
c.796+312G>A Single submitter
c.796+66_796+75del Single submitter
c.796+7G>A Single submitter Cenani-Lenz syndactyly syndrome
c.797-335A>G Single submitter
c.922+12C>T Single submitter Cenani-Lenz syndactyly syndrome
c.922+13G>C Single submitter Cenani-Lenz syndactyly syndrome
c.922+19C>G Single submitter Cenani-Lenz syndactyly syndrome
c.923-10A>G Single submitter sclerosteosis 2
c.923-11C>T Single submitter Cenani-Lenz syndactyly syndrome
c.923-14del Single submitter Cenani-Lenz syndactyly syndrome
c.923-14dup Single submitter
c.923-16C>A Single submitter congenital myasthenic syndrome 17
c.923-19T>C Single submitter Cenani-Lenz syndactyly syndrome
c.923-6C>G Single submitter Cenani-Lenz syndactyly syndrome
c.923-8C>T Single submitter Cenani-Lenz syndactyly syndrome
c.*2054C>T Single submitter Cenani-Lenz syndactyly syndrome
c.*2104C>G Single submitter Cenani-Lenz syndactyly syndrome
c.*929C>A Single submitter Cenani-Lenz syndactyly syndrome
p.Ala1085= Single submitter
p.Ala1203= Single submitter Cenani-Lenz syndactyly syndrome
p.Ala1228= Single submitter sclerosteosis 2
p.Ala1454= Single submitter Cenani-Lenz syndactyly syndrome
p.Ala1534= Single submitter sclerosteosis 2
p.Ala188= Single submitter Cenani-Lenz syndactyly syndrome
p.Ala199= Single submitter Cenani-Lenz syndactyly syndrome
p.Ala246= Single submitter Cenani-Lenz syndactyly syndrome
p.Ala254= Single submitter Cenani-Lenz syndactyly syndrome
p.Ala35= Single submitter Cenani-Lenz syndactyly syndrome
p.Ala400= Single submitter sclerosteosis 2
p.Ala543= Single submitter Cenani-Lenz syndactyly syndrome
p.Ala593= Single submitter Cenani-Lenz syndactyly syndrome
p.Ala608= Single submitter Cenani-Lenz syndactyly syndrome
p.Ala737= Single submitter Cenani-Lenz syndactyly syndrome
p.Ala880= Single submitter Cenani-Lenz syndactyly syndrome
p.Ala909= Single submitter congenital myasthenic syndrome 17
p.Ala922= Single submitter Cenani-Lenz syndactyly syndrome
p.Arg1136= Single submitter congenital myasthenic syndrome 17
p.Arg1202= Single submitter Cenani-Lenz syndactyly syndrome
p.Arg1327= Single submitter Cenani-Lenz syndactyly syndrome
p.Arg1365= Single submitter sclerosteosis 2
p.Arg1440= Single submitter sclerosteosis 2
p.Arg1474= Single submitter Cenani-Lenz syndactyly syndrome
p.Arg1506= Single submitter congenital myasthenic syndrome 17
p.Arg1567= Single submitter Cenani-Lenz syndactyly syndrome
p.Arg1770= Single submitter Cenani-Lenz syndactyly syndrome
p.Arg1833= Single submitter Cenani-Lenz syndactyly syndrome
p.Arg288= Single submitter
p.Arg3= Single submitter
p.Arg457= Single submitter Cenani-Lenz syndactyly syndrome
p.Arg478= Single submitter
p.Arg611= Single submitter Cenani-Lenz syndactyly syndrome
p.Arg624= Single submitter Cenani-Lenz syndactyly syndrome
p.Asn1035= Single submitter congenital myasthenic syndrome 17

Uncertain significance 760

Showing the top 300 by review status; the full set is in the sitemap.

c.1309+6G>T Multiple submitters sclerosteosis 2
c.2215+5G>A Multiple submitters congenital myasthenic syndrome 17
c.2216-3C>T Multiple submitters sclerosteosis 2
c.3277+5G>T Multiple submitters Cenani-Lenz syndactyly syndrome
c.3699+5G>C Multiple submitters Cenani-Lenz syndactyly syndrome
c.3925+3G>A Multiple submitters Cenani-Lenz syndactyly syndrome
c.548-18C>G Multiple submitters congenital myasthenic syndrome 17
c.676+4A>G Multiple submitters Cenani-Lenz syndactyly syndrome
p.Ala1130Thr Multiple submitters congenital myasthenic syndrome 17 ⚠
p.Ala1203Thr Multiple submitters Cenani-Lenz syndactyly syndrome ⚠
p.Ala1237Ser Multiple submitters congenital myasthenic syndrome 17 ⚠
p.Ala1630Val Multiple submitters Cenani-Lenz syndactyly syndrome ⚠
p.Ala1661Thr Multiple submitters Inborn genetic diseases ⚠
p.Ala1713Val Multiple submitters sclerosteosis 2 ⚠
p.Ala1727Thr Multiple submitters Inborn genetic diseases ⚠
p.Ala188Val Multiple submitters congenital myasthenic syndrome 17 ⚠
p.Ala254Val Multiple submitters congenital myasthenic syndrome 17 ⚠
p.Ala272Thr Multiple submitters congenital myasthenic syndrome 17 ⚠
p.Ala880Val Multiple submitters Cenani-Lenz syndactyly syndrome ⚠
p.Arg108Gln Multiple submitters Cenani-Lenz syndactyly syndrome ⚠
p.Arg108Trp Multiple submitters sclerosteosis 2 ⚠
p.Arg1136Gln Multiple submitters sclerosteosis 2 ⚠
p.Arg1136Trp Multiple submitters Cenani-Lenz syndactyly syndrome ⚠
p.Arg1158Gln Multiple submitters Cenani-Lenz syndactyly syndrome ⚠
p.Arg1194Gln Multiple submitters sclerosteosis 2 ⚠
p.Arg1194Trp Multiple submitters Inborn genetic diseases ⚠
p.Arg1234Gln Multiple submitters Cenani-Lenz syndactyly syndrome ⚠
p.Arg1277His Multiple submitters Cenani-Lenz syndactyly syndrome ⚠
p.Arg1304Gln Multiple submitters Cenani-Lenz syndactyly syndrome ⚠
p.Arg1327Gln Multiple submitters LRP4-related disorder ⚠
p.Arg1361His Multiple submitters Cenani-Lenz syndactyly syndrome ⚠
p.Arg1365Gln Multiple submitters Cenani-Lenz syndactyly syndrome ⚠
p.Arg1425Gln Multiple submitters Inborn genetic diseases ⚠
p.Arg1462His Multiple submitters sclerosteosis 2 ⚠
p.Arg146Cys Multiple submitters Cenani-Lenz syndactyly syndrome ⚠
p.Arg1498Gln Multiple submitters Cenani-Lenz syndactyly syndrome ⚠
p.Arg1506Trp Multiple submitters Inborn genetic diseases ⚠
p.Arg1549Gln Multiple submitters sclerosteosis 2 ⚠
p.Arg1567Trp Multiple submitters Cenani-Lenz syndactyly syndrome ⚠
p.Arg1588Gln Multiple submitters Cenani-Lenz syndactyly syndrome ⚠
p.Arg1588Trp Multiple submitters Cenani-Lenz syndactyly syndrome ⚠
p.Arg1610Gln Multiple submitters congenital myasthenic syndrome 17
p.Arg1646Leu Multiple submitters sclerosteosis 2 ⚠
p.Arg1646Trp Multiple submitters Cenani-Lenz syndactyly syndrome ⚠
p.Arg1685Gln Multiple submitters congenital myasthenic syndrome 17 ⚠
p.Arg1685Trp Multiple submitters sclerosteosis 2 ⚠
p.Arg1709Cys Multiple submitters Inborn genetic diseases ⚠
p.Arg1709Pro Multiple submitters Cenani-Lenz syndactyly syndrome ⚠
p.Arg1770Gln Multiple submitters Cenani-Lenz syndactyly syndrome ⚠
p.Arg1830Gln Multiple submitters congenital myasthenic syndrome 17 ⚠
p.Arg1838Gln Multiple submitters Cenani-Lenz syndactyly syndrome ⚠
p.Arg1884Gly Multiple submitters sclerosteosis 2 ⚠
p.Arg1885Gln Multiple submitters sclerosteosis 2 ⚠
p.Arg1885Ter Multiple submitters Cenani-Lenz syndactyly syndrome
p.Arg202His Multiple submitters Inborn genetic diseases ⚠
p.Arg232Cys Multiple submitters Inborn genetic diseases ⚠
p.Arg232His Multiple submitters Cenani-Lenz syndactyly syndrome ⚠
p.Arg232Ser Multiple submitters congenital myasthenic syndrome 17 ⚠
p.Arg249His Multiple submitters Inborn genetic diseases ⚠
p.Arg263His Multiple submitters Inborn genetic diseases ⚠
p.Arg276Cys Multiple submitters sclerosteosis 2
p.Arg281His Multiple submitters congenital myasthenic syndrome 17 ⚠
p.Arg281Leu Multiple submitters sclerosteosis 2 ⚠
p.Arg284His Multiple submitters Inborn genetic diseases ⚠
p.Arg288Gly Multiple submitters sclerosteosis 2 ⚠
p.Arg323Cys Multiple submitters congenital myasthenic syndrome 17 ⚠
p.Arg323His Multiple submitters Inborn genetic diseases ⚠
p.Arg350Trp Multiple submitters congenital myasthenic syndrome 17 ⚠
p.Arg352Gln Multiple submitters sclerosteosis 2 ⚠
p.Arg352Trp Multiple submitters Cenani-Lenz syndactyly syndrome ⚠
p.Arg385Gln Multiple submitters congenital myasthenic syndrome 17 ⚠
p.Arg385Trp Multiple submitters Cenani-Lenz syndactyly syndrome ⚠
p.Arg427Gln Multiple submitters sclerosteosis 2 ⚠
p.Arg430Gln Multiple submitters Cenani-Lenz syndactyly syndrome ⚠
p.Arg430Trp Multiple submitters congenital myasthenic syndrome 17 ⚠
p.Arg457Cys Multiple submitters Cenani-Lenz syndactyly syndrome ⚠
p.Arg478Cys Multiple submitters sclerosteosis 2
p.Arg479Cys Multiple submitters Inborn genetic diseases
p.Arg479His Multiple submitters sclerosteosis 2 ⚠
p.Arg479Leu Multiple submitters congenital myasthenic syndrome 17 ⚠
p.Arg491Gln Multiple submitters congenital myasthenic syndrome 17 ⚠
p.Arg491Trp Multiple submitters Inborn genetic diseases ⚠
p.Arg494Cys Multiple submitters Inborn genetic diseases ⚠
p.Arg494His Multiple submitters congenital myasthenic syndrome 17 ⚠
p.Arg545Gln Multiple submitters Inborn genetic diseases ⚠
p.Arg578Cys Multiple submitters sclerosteosis 2 ⚠
p.Arg589Cys Multiple submitters Cenani-Lenz syndactyly syndrome ⚠
p.Arg590His Multiple submitters Cenani-Lenz syndactyly syndrome ⚠
p.Arg611Cys Multiple submitters Cenani-Lenz syndactyly syndrome ⚠
p.Arg611His Multiple submitters congenital myasthenic syndrome 17 ⚠
p.Arg694Cys Multiple submitters congenital myasthenic syndrome 17 ⚠
p.Arg748Gln Multiple submitters sclerosteosis 2 ⚠
p.Arg753His Multiple submitters sclerosteosis 2 ⚠
p.Arg773Cys Multiple submitters Cenani-Lenz syndactyly syndrome ⚠
p.Arg783Gln Multiple submitters Inborn genetic diseases ⚠
p.Arg839Trp Multiple submitters Inborn genetic diseases ⚠
p.Arg860His Multiple submitters congenital myasthenic syndrome 17 ⚠
p.Arg86Pro Multiple submitters sclerosteosis 2 ⚠
p.Arg916Cys Multiple submitters Cenani-Lenz syndactyly syndrome ⚠
p.Arg916His Multiple submitters sclerosteosis 2 ⚠
p.Arg973Gln Multiple submitters Cenani-Lenz syndactyly syndrome ⚠
p.Arg973Trp Multiple submitters Cenani-Lenz syndactyly syndrome ⚠
p.Arg979Gln Multiple submitters sclerosteosis 2 ⚠
p.Arg979Trp Multiple submitters Inborn genetic diseases ⚠
p.Arg997Cys Multiple submitters Cenani-Lenz syndactyly syndrome ⚠
p.Arg997His Multiple submitters congenital myasthenic syndrome 17 ⚠
p.Arg998Cys Multiple submitters Cenani-Lenz syndactyly syndrome ⚠
p.Arg998His Multiple submitters Cenani-Lenz syndactyly syndrome ⚠
p.Arg999Trp Multiple submitters Inborn genetic diseases ⚠
p.Asn1152Asp Multiple submitters Inborn genetic diseases ⚠
p.Asn1244Ser Multiple submitters Cenani-Lenz syndactyly syndrome ⚠
p.Asn1385Ser Multiple submitters congenital myasthenic syndrome 17 ⚠
p.Asn1441Ser Multiple submitters Inborn genetic diseases ⚠
p.Asn1467Ser Multiple submitters Inborn genetic diseases ⚠
p.Asn1545Ser Multiple submitters Cenani-Lenz syndactyly syndrome ⚠
p.Asn1589Lys Multiple submitters sclerosteosis 2 ⚠
p.Asn1711Ser Multiple submitters congenital myasthenic syndrome 17 ⚠
p.Asn1788His Multiple submitters sclerosteosis 2 ⚠
p.Asn303Lys Multiple submitters congenital myasthenic syndrome 17 ⚠
p.Asn321Lys Multiple submitters Cenani-Lenz syndactyly syndrome ⚠
p.Asn498His Multiple submitters Cenani-Lenz syndactyly syndrome ⚠
p.Asn664Asp Multiple submitters congenital myasthenic syndrome 17 ⚠
p.Asn705Asp Multiple submitters Inborn genetic diseases ⚠
p.Asn857Thr Multiple submitters Cenani-Lenz syndactyly syndrome ⚠
p.Asp1089Val Multiple submitters sclerosteosis 2 ⚠
p.Asp1185Glu Multiple submitters Cenani-Lenz syndactyly syndrome ⚠
p.Asp1262Asn Multiple submitters Cenani-Lenz syndactyly syndrome ⚠
p.Asp1370Gly Multiple submitters Cenani-Lenz syndactyly syndrome ⚠
p.Asp1502Ala Multiple submitters congenital myasthenic syndrome 17 ⚠
p.Asp175Glu Multiple submitters congenital myasthenic syndrome 17 ⚠
p.Asp206Asn Multiple submitters sclerosteosis 2 ⚠
p.Asp336Asn Multiple submitters Cenani-Lenz syndactyly syndrome ⚠
p.Asp594Asn Multiple submitters sclerosteosis 2 ⚠
p.Asp62Asn Multiple submitters Inborn genetic diseases ⚠
p.Asp859Val Multiple submitters Inborn genetic diseases ⚠
p.Asp93Gly Multiple submitters Inborn genetic diseases ⚠
p.Cys1814Tyr Multiple submitters Inborn genetic diseases
p.Cys319Tyr Multiple submitters Cenani-Lenz syndactyly syndrome ⚠
p.Gln259Arg Multiple submitters Inborn genetic diseases ⚠
p.Gln274Glu Multiple submitters Inborn genetic diseases ⚠
p.Gln311His Multiple submitters Cenani-Lenz syndactyly syndrome ⚠
p.Gln370His Multiple submitters Cenani-Lenz syndactyly syndrome ⚠
p.Gln377Arg Multiple submitters Cenani-Lenz syndactyly syndrome ⚠
p.Gln738Pro Multiple submitters Cenani-Lenz syndactyly syndrome ⚠
p.Glu1116Lys Multiple submitters Inborn genetic diseases ⚠
p.Glu1233Lys Multiple submitters congenital myasthenic syndrome 17 ⚠
p.Glu1383Ala Multiple submitters Cenani-Lenz syndactyly syndrome ⚠
p.Glu1383Gly Multiple submitters sclerosteosis 2 ⚠
p.Glu1383Lys Multiple submitters Cenani-Lenz syndactyly syndrome ⚠
p.Glu1691Lys Multiple submitters Cenani-Lenz syndactyly syndrome ⚠
p.Glu24Lys Multiple submitters congenital myasthenic syndrome 17 ⚠
p.Glu355Lys Multiple submitters sclerosteosis 2 ⚠
p.Glu480Gln Multiple submitters Cenani-Lenz syndactyly syndrome ⚠
p.Glu504Lys Multiple submitters Cenani-Lenz syndactyly syndrome ⚠
p.Glu97Ala Multiple submitters Cenani-Lenz syndactyly syndrome ⚠
p.Gly1012Val Multiple submitters Cenani-Lenz syndactyly syndrome ⚠
p.Gly1025Arg Multiple submitters Cenani-Lenz syndactyly syndrome ⚠
p.Gly1179= Multiple submitters Cenani-Lenz syndactyly syndrome
p.Gly1314Ser Multiple submitters Cenani-Lenz syndactyly syndrome ⚠
p.Gly1319Ser Multiple submitters Cenani-Lenz syndactyly syndrome ⚠
p.Gly1515Ala Multiple submitters LRP4-related disorder ⚠
p.Gly158Arg Multiple submitters sclerosteosis 2 ⚠
p.Gly169Ser Multiple submitters sclerosteosis 2 ⚠
p.Gly1729Ala Multiple submitters sclerosteosis 2 ⚠
p.Gly1834Arg Multiple submitters congenital myasthenic syndrome 17 ⚠
p.Gly28Asp Multiple submitters sclerosteosis 2 ⚠
p.Gly363Ser Multiple submitters sclerosteosis 2
p.Gly408Ser Multiple submitters sclerosteosis 2 ⚠
p.Gly58Arg Multiple submitters Cenani-Lenz syndactyly syndrome ⚠
p.Gly609Arg Multiple submitters congenital myasthenic syndrome 17 ⚠
p.Gly707Arg Multiple submitters Cenani-Lenz syndactyly syndrome ⚠
p.Gly870Asp Multiple submitters sclerosteosis 2 ⚠
p.Gly913Glu Multiple submitters Cenani-Lenz syndactyly syndrome ⚠
p.Gly923Ser Multiple submitters Cenani-Lenz syndactyly syndrome ⚠
p.Gly92Arg Multiple submitters Cenani-Lenz syndactyly syndrome ⚠
p.His1115Arg Multiple submitters congenital myasthenic syndrome 17 ⚠
p.His1115Gln Multiple submitters Cenani-Lenz syndactyly syndrome ⚠
p.His1378Gln Multiple submitters Inborn genetic diseases ⚠
p.His1723Arg Multiple submitters Cenani-Lenz syndactyly syndrome ⚠
p.His456Tyr Multiple submitters congenital myasthenic syndrome 17 ⚠
p.His77Arg Multiple submitters sclerosteosis 2 ⚠
p.Ile1493Asn Multiple submitters Cenani-Lenz syndactyly syndrome ⚠
p.Ile1728Val Multiple submitters congenital myasthenic syndrome 17 ⚠
p.Ile204Thr Multiple submitters Cenani-Lenz syndactyly syndrome ⚠
p.Ile207Val Multiple submitters Inborn genetic diseases ⚠
p.Leu1501Phe Multiple submitters congenital myasthenic syndrome 17 ⚠
p.Leu1732Phe Multiple submitters Inborn genetic diseases ⚠
p.Leu1836fs Multiple submitters Cenani-Lenz syndactyly syndrome
p.Leu1837Pro Multiple submitters Cenani-Lenz syndactyly syndrome ⚠
p.Leu497Arg Multiple submitters congenital myasthenic syndrome 17 ⚠
p.Lys1280Arg Multiple submitters Cenani-Lenz syndactyly syndrome ⚠
p.Lys1793Thr Multiple submitters Inborn genetic diseases
p.Lys1794fs Multiple submitters congenital myasthenic syndrome 17
p.Lys1806del Multiple submitters Cenani-Lenz syndactyly syndrome
p.Met1008Val Multiple submitters Cenani-Lenz syndactyly syndrome ⚠
p.Met1299Val Multiple submitters congenital myasthenic syndrome 17 ⚠
p.Met1664Val Multiple submitters congenital myasthenic syndrome 17 ⚠
p.Met371Thr Multiple submitters sclerosteosis 2 ⚠
p.Met612Val Multiple submitters Cenani-Lenz syndactyly syndrome ⚠
p.Phe275Leu Multiple submitters Inborn genetic diseases ⚠
p.Pro1001Arg Multiple submitters Inborn genetic diseases ⚠
p.Pro1023Ser Multiple submitters Cenani-Lenz syndactyly syndrome ⚠
p.Pro1067Ser Multiple submitters sclerosteosis 2 ⚠
p.Pro106Leu Multiple submitters Cenani-Lenz syndactyly syndrome ⚠
p.Pro1090Ser Multiple submitters sclerosteosis 2 ⚠
p.Pro1251Leu Multiple submitters Cenani-Lenz syndactyly syndrome ⚠
p.Pro1307Ser Multiple submitters LRP4-related disorder ⚠
p.Pro1382Ser Multiple submitters Cenani-Lenz syndactyly syndrome ⚠
p.Pro1643Leu Multiple submitters Inborn genetic diseases ⚠
p.Pro183Ser Multiple submitters sclerosteosis 2 ⚠
p.Pro230Ala Multiple submitters sclerosteosis 2 ⚠
p.Pro513Arg Multiple submitters sclerosteosis 2 ⚠
p.Pro641Leu Multiple submitters sclerosteosis 2 ⚠
p.Pro946Arg Multiple submitters congenital myasthenic syndrome 17 ⚠
p.Ser100Leu Multiple submitters Inborn genetic diseases ⚠
p.Ser1113Pro Multiple submitters sclerosteosis 2 ⚠
p.Ser1200Leu Multiple submitters sclerosteosis 2 ⚠
p.Ser1359Thr Multiple submitters Cenani-Lenz syndactyly syndrome ⚠
p.Ser1417Asn Multiple submitters sclerosteosis 2 ⚠
p.Ser1460Phe Multiple submitters sclerosteosis 2 ⚠
p.Ser1645Asn Multiple submitters Inborn genetic diseases ⚠
p.Ser1733Asn Multiple submitters sclerosteosis 2 ⚠
p.Ser1853Asn Multiple submitters Cenani-Lenz syndactyly syndrome ⚠
p.Ser22Ile Multiple submitters Cenani-Lenz syndactyly syndrome ⚠
p.Thr1282Pro Multiple submitters Cenani-Lenz syndactyly syndrome ⚠
p.Thr1512Arg Multiple submitters Inborn genetic diseases ⚠
p.Thr1847Met Multiple submitters Inborn genetic diseases ⚠
p.Thr1862Met Multiple submitters Inborn genetic diseases ⚠
p.Thr1891Met Multiple submitters Inborn genetic diseases ⚠
p.Thr353Met Multiple submitters Cenani-Lenz syndactyly syndrome ⚠
p.Thr567Ile Multiple submitters sclerosteosis 2 ⚠
p.Thr670Met Multiple submitters Cenani-Lenz syndactyly syndrome ⚠
p.Thr710Met Multiple submitters Inborn genetic diseases ⚠
p.Thr726Ala Multiple submitters congenital myasthenic syndrome 17 ⚠
p.Thr796Asn Multiple submitters Inborn genetic diseases ⚠
p.Tyr1792His Multiple submitters Inborn genetic diseases ⚠
p.Tyr912Cys Multiple submitters Cenani-Lenz syndactyly syndrome ⚠
p.Tyr954Cys Multiple submitters Inborn genetic diseases ⚠
p.Val1289Met Multiple submitters Cenani-Lenz syndactyly syndrome ⚠
p.Val1395Met Multiple submitters congenital myasthenic syndrome 17 ⚠
p.Val1422Leu Multiple submitters Cenani-Lenz syndactyly syndrome
p.Val1478Leu Multiple submitters Cenani-Lenz syndactyly syndrome ⚠
p.Val1532Leu Multiple submitters sclerosteosis 2 ⚠
p.Val1605Met Multiple submitters sclerosteosis 2
p.Val1810Ile Multiple submitters Cenani-Lenz syndactyly syndrome ⚠
p.Val1876Ile Multiple submitters congenital myasthenic syndrome 17 ⚠
p.Val334Gly Multiple submitters Cenani-Lenz syndactyly syndrome ⚠
p.Val792Ile Multiple submitters sclerosteosis 2 ⚠
p.Val810Ile Multiple submitters Cenani-Lenz syndactyly syndrome ⚠
p.Val826Ile Multiple submitters Cenani-Lenz syndactyly syndrome ⚠
p.Val852Leu Multiple submitters Cenani-Lenz syndactyly syndrome ⚠
p.Val865Met Multiple submitters Cenani-Lenz syndactyly syndrome ⚠
p.Val994Ile Multiple submitters Cenani-Lenz syndactyly syndrome ⚠
c.1183+6C>T Single submitter congenital myasthenic syndrome 17
c.1184-11G>A Single submitter congenital myasthenic syndrome 17
c.1184-14C>T Single submitter congenital myasthenic syndrome 17
c.1309+5G>C Single submitter congenital myasthenic syndrome 17
c.1310-3C>T Single submitter sclerosteosis 2
c.1540+3A>G Single submitter Cenani-Lenz syndactyly syndrome
c.1698-9_1698-5del Single submitter sclerosteosis 2
c.2092+5A>G Single submitter congenital myasthenic syndrome 17
c.2216-7T>A Single submitter
c.2814+10G>A Single submitter Cenani-Lenz syndactyly syndrome
c.2815-11G>A Single submitter
c.2815-11G>T Single submitter Cenani-Lenz syndactyly syndrome
c.3277+5G>A Single submitter Cenani-Lenz syndactyly syndrome
c.3278-141A>G Single submitter
c.3364+3G>A Single submitter sclerosteosis 2
c.3699+5G>A Single submitter congenital myasthenic syndrome 17
c.4229+4T>C Single submitter congenital myasthenic syndrome 17
c.430+4G>A Single submitter sclerosteosis 2
c.431-13C>T Single submitter congenital myasthenic syndrome 17
c.4693-2A>G Single submitter autosomal recessive limb-girdle muscular dystrophy type 2J
c.4693-9G>A Single submitter Cenani-Lenz syndactyly syndrome
c.4837+11G>A Single submitter congenital myasthenic syndrome 17
c.4837+4G>A Single submitter congenital myasthenic syndrome 17
c.4837+4G>T Single submitter Cenani-Lenz syndactyly syndrome
c.4951+5G>A Single submitter
c.4952-52A>C Single submitter
c.5243+6T>C Single submitter sclerosteosis 2
c.5244-7C>G Single submitter congenital myasthenic syndrome 17
c.5386-12T>C Single submitter Cenani-Lenz syndactyly syndrome
c.796+8G>A Single submitter congenital myasthenic syndrome 17
c.797-3C>T Single submitter sclerosteosis 2
c.923-8CT[2] Single submitter
c.-193C>A Single submitter Cenani-Lenz syndactyly syndrome
c.*104C>T Single submitter Cenani-Lenz syndactyly syndrome
c.*1064C>G Single submitter Cenani-Lenz syndactyly syndrome
c.*1273G>C Single submitter Cenani-Lenz syndactyly syndrome
c.*1322G>T Single submitter Cenani-Lenz syndactyly syndrome
c.*1335G>A Single submitter Cenani-Lenz syndactyly syndrome
c.*1467C>T Single submitter Cenani-Lenz syndactyly syndrome
c.*1546C>T Single submitter Cenani-Lenz syndactyly syndrome
c.*1586T>G Single submitter Cenani-Lenz syndactyly syndrome
c.*1662C>A Single submitter Cenani-Lenz syndactyly syndrome
c.*1727G>A Single submitter Cenani-Lenz syndactyly syndrome
c.*2212C>T Single submitter Cenani-Lenz syndactyly syndrome
c.*242G>A Single submitter Cenani-Lenz syndactyly syndrome
c.*305C>T Single submitter Cenani-Lenz syndactyly syndrome
c.*329T>C Single submitter Cenani-Lenz syndactyly syndrome