MSeqDR Mitochondrial Disease Portal


 
*:HP: HPO terms, UMDF: 1= Disease, ND: NAMDC terms.
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Parent Node:
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Syndactyly (D013576)
..Starting node
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Syndactyly Cenani Lenz type (C538150)

       Child Nodes:



 Sister Nodes: 
..expandAcrocephalosyndactylia (D000168) Child11
..expandAphalangia syndactyly microcephaly (C537787)
..expandArterial Occlusive Disease, Progressive, with Hypertension, Heart Defects, Bone Fragility, and Brachysyndactyly (C566529)
..expandAurocephalosyndactyly (C566235)
..expandBlepharophimosis with ptosis, syndactyly, and short stature (C536235)
..expandBonneau Syndrome (C564875)
..expandBrachydactyly-Syndactyly Syndrome (C565193)
..expandEctodermal dysplasia mental retardation syndactyly (C538018)
..expandECTODERMAL DYSPLASIA-SYNDACTYLY SYNDROME 1 (OMIM:613573)
..expandECTODERMAL DYSPLASIA-SYNDACTYLY SYNDROME 2 (OMIM:613576)
..expandEyebrows duplication of, with stretchable skin and syndactyly (C536383)
..expandFibular Aplasia, Tibial Campomelia, and Oligosyndactyly Syndrome (C565436)
..expandFilippi syndrome (C538152)
..expandFraser Syndrome (D058497)
..expandFrints De Smet Fabry Fryns syndrome (C538062)
..expandGollop Coates syndrome (C537283)
..expandGreen Sandford Davison syndrome (C538221)
..expandKleiner Holmes syndrome (C536885)
..expandKozlowski-Krajewska syndrome (C537615)
..expandLacrimoauriculodentodigital syndrome (C538132)
..expandLandy Donnai syndrome (C537266)
..expandMartinez Monasterio Pinheiro syndrome (C536027)
..expandNaguib-Richieri-Costa syndrome (C538332)
..expandOculodentodigital Dysplasia (C563160)
..expandOculodentodigital Dysplasia, Autosomal Recessive (C567605)
..expandOculodentoosseous dysplasia recessive (C537733)
..expandOrofacial Cleft 7 (C563464)
..expandOrstavik Lindemann Solberg syndrome (C537137)
..expandPavone Fiumara Rizzo syndrome (C536313)
..expandPfeiffer Rockelein syndrome (C537890)
..expandPiepkorn Karp Hickok syndrome (C535774)
..expandPoland Syndrome (D011045)
..expandPolydactyly, Postaxial, Type A4 (C563909)
..expandPolysyndactyly, Crossed (C566773)
..expandPopliteal Pterygium Syndrome (C562509)
..expandPopliteal Pterygium Syndrome, Lethal Type (C564874)
..expandRadio-ulnar synostosis type 1 (C536268)
..expandRadio-ulnar synostosis type 2 (C536269)
..expandRosselli-Gulienetti Syndrome (C563117)
..expandSclerosteosis (C537525)
..expandScott Bryant Graham syndrome (C537528)
..expandShort Stature, Facial Dysmorphism, Severe Brachydactyly, and Syndactyly (C567093)
..expandSyndactyly Cenani Lenz type (C538150)
..expandSyndactyly, Mesoaxial Synostotic, with Phalangeal Reduction (C563721)
..expandSyndactyly, type 2 (C538153)
..expandSyndactyly, type 3 (C538154)
..expandSyndactyly, Type I (C566096)
..expandSyndactyly, Type IV (C566092)
..expandSyndactyly, type v (C538155)
..expandSyndactyly-Polydactyly-Earlobe Syndrome (C566091)
..expandTimothy syndrome (C536962)
..expandToe Syndactyly, Telecanthus, and Anogenital and Renal Malformations (C567475)
..expandTrueb Burg Bottani syndrome (C536565)
..expandWinter Shortland Temple syndrome (C536735)
..expandZerres Rietschel Majewski syndrome (C536724)
..expandZlotogora-Ogur syndrome (C536726)
..expandZygodactyly 1 (C565223)
   

Human Disease MESH is developed by UMLS.
Further data from MedGen, OMIM,ClinVar, CTD
Term ID:11859
Name:Syndactyly Cenani Lenz type
Definition:
Alternative IDs:OMIM:212780
ParentIDs:MESH:D013576
TreeNumbers:C05.116.099.370.894.819/C538150 |C05.660.585.800/C538150 |C05.660.906.819/C538150 |C16.131.621.585.800/C538150 |C16.131.621.906.819/C538150
Synonyms:Cenani-Lenz Syndactyly |CENANI-LENZ SYNDACTYLY SYNDROME |Cenani-Lenz type syndactyly |Cenani syndactylism |CLSS |Syndactyly type 7 |Syndactyly, Type VII
Slim Mappings:Congenital abnormality|Musculoskeletal disease
Reference: MedGen: C538150
MeSH: C538150
OMIM: 212780;
MSeqDR LSDB:  
Genes: LRP4;
Phenotypes
1 HP:0000007Autosomal recessive inheritance
2 HP:0000494Downslanted palpebral fissures
3 HP:0000316Hypertelorism
4 HP:0002984Hypoplasia of the radius
5 HP:0003022Hypoplasia of the ulna
6 HP:0000347Micrognathia
7 HP:0011220Prominent forehead
8 HP:0000104Renal agenesis
9 HP:0000089Renal hypoplasia
10 HP:0001159Syndactyly
Disease Causing ClinVar Variants
Variation_NameGeneIDGeneSymbolClinicalSignificancedbSNPRCVaccessionTestedInGTRPhenotypeIDsChromosomeStartStopHGVS_cHGVS_pHGVS_gOtherIDsDisease_ClinVar
NM_002334.4(LRP4):c.*2252G>A4038LRP4Benign-1RCV001105797; NMONDO:MONDO:0008931,MedGen:C1859309,OMIM:212780, Orphanet:3258114687828246878282CT11:g.46878282C>T-
NM_002334.4(LRP4):c.*2212C>T4038LRP4Uncertain significancers886048339RCV000282569; NMONDO:MONDO:0008931,MedGen:C1859309,OMIM:212780, Orphanet:3258114687832246878322GA11:g.46878322G>AClinGen:CA10639225
NM_002334.4(LRP4):c.*2104C>G4038LRP4Likely benignrs7928628RCV000335283; NMONDO:MONDO:0008931,MedGen:C1859309,OMIM:212780, Orphanet:3258114687843046878430GC11:g.46878430G>CClinGen:CA10638669
NM_002334.4(LRP4):c.*2082dup4038LRP4Uncertain significancers886048340RCV000395858; NMONDO:MONDO:0008931,MedGen:C1859309,OMIM:212780, Orphanet:3258114687845146878452CCA11:g.46878451_46878452insAClinGen:CA10638672
NM_002334.4(LRP4):c.*2080T>C4038LRP4Benign-1RCV001105799; NMONDO:MONDO:0008931,MedGen:C1859309,OMIM:212780, Orphanet:3258114687845446878454AG11:g.46878454A>G-
NM_002334.4(LRP4):c.*2054C>T4038LRP4Likely benign-1RCV001106909; NMONDO:MONDO:0008931,MedGen:C1859309,OMIM:212780, Orphanet:3258114687848046878480GA11:g.46878480G>A-
NM_002334.4(LRP4):c.*1825_*1826del4038LRP4Likely benignrs147363340RCV000303999; NMONDO:MONDO:0008931,MedGen:C1859309,OMIM:212780, Orphanet:3258114687870846878709TACT11:g.46878708_46878709delClinGen:CA10638674
NM_002334.4(LRP4):c.*1727G>A4038LRP4Uncertain significancers558730059RCV000342456; NMONDO:MONDO:0008931,MedGen:C1859309,OMIM:212780, Orphanet:3258114687880746878807CT11:g.46878807C>TClinGen:CA10630959
NM_002334.4(LRP4):c.*1662C>A4038LRP4Uncertain significancers886048341RCV000395868; NMONDO:MONDO:0008931,MedGen:C1859309,OMIM:212780, Orphanet:3258114687887246878872GT11:g.46878872G>TClinGen:CA10635002
NM_002334.4(LRP4):c.*1627A>G4038LRP4Benign-1RCV001106910; NMONDO:MONDO:0008931,MedGen:C1859309,OMIM:212780, Orphanet:3258114687890746878907TC11:g.46878907T>C-
NM_002334.4(LRP4):c.*1586T>G4038LRP4Uncertain significancers774819807RCV000302929; NMONDO:MONDO:0008931,MedGen:C1859309,OMIM:212780, Orphanet:3258114687894846878948AC11:g.46878948A>CClinGen:CA10635004
NM_002334.4(LRP4):c.*1546C>T4038LRP4Uncertain significance-1RCV001106911; NMONDO:MONDO:0008931,MedGen:C1859309,OMIM:212780, Orphanet:3258114687898846878988GA11:g.46878988G>A-
NM_002334.4(LRP4):c.*1467C>T4038LRP4Uncertain significance-1RCV001106912; NMONDO:MONDO:0008931,MedGen:C1859309,OMIM:212780, Orphanet:3258114687906746879067GA11:g.46879067G>A-
NM_002334.4(LRP4):c.*1445A>G4038LRP4Benign-1RCV001107572; NMONDO:MONDO:0008931,MedGen:C1859309,OMIM:212780, Orphanet:3258114687908946879089TC11:g.46879089T>C-
NM_002334.4(LRP4):c.*1334dup4038LRP4Uncertain significancers886048342RCV000364675; NMONDO:MONDO:0008931,MedGen:C1859309,OMIM:212780, Orphanet:3258114687919946879200CCA11:g.46879199_46879200insAClinGen:CA10635007
NM_002334.4(LRP4):c.*1335G>A4038LRP4Uncertain significance-1RCV001107573; NMONDO:MONDO:0008931,MedGen:C1859309,OMIM:212780, Orphanet:3258114687919946879199CT11:g.46879199C>T-
NM_002334.4(LRP4):c.*1322G>T4038LRP4Uncertain significance-1RCV001107574; NMONDO:MONDO:0008931,MedGen:C1859309,OMIM:212780, Orphanet:3258114687921246879212CA11:g.46879212C>A-
NM_002334.4(LRP4):c.*1273G>C4038LRP4Uncertain significance-1RCV001107575; NMONDO:MONDO:0008931,MedGen:C1859309,OMIM:212780, Orphanet:3258114687926146879261CG11:g.46879261C>G-
NM_002334.4(LRP4):c.*1151C>T4038LRP4Benign-1RCV001107576; NMONDO:MONDO:0008931,MedGen:C1859309,OMIM:212780, Orphanet:3258114687938346879383GA11:g.46879383G>A-
NM_002334.4(LRP4):c.*1064C>G4038LRP4Uncertain significancers886048343RCV000399548; NMONDO:MONDO:0008931,MedGen:C1859309,OMIM:212780, Orphanet:3258114687947046879470GC11:g.46879470G>CClinGen:CA10630964
NM_002334.4(LRP4):c.*1017C>T4038LRP4Benignrs10838623RCV000306447; NMONDO:MONDO:0008931,MedGen:C1859309,OMIM:212780, Orphanet:3258114687951746879517GA11:g.46879517G>AClinGen:CA10635008
NM_002334.4(LRP4):c.*929C>A4038LRP4Likely benignrs79910473RCV000363570; NMONDO:MONDO:0008931,MedGen:C1859309,OMIM:212780, Orphanet:3258114687960546879605GT11:g.46879605G>TClinGen:CA10638675
NM_002334.4(LRP4):c.*921A>C4038LRP4Uncertain significance-1RCV001103962; NMONDO:MONDO:0008931,MedGen:C1859309,OMIM:212780, Orphanet:3258114687961346879613TG11:g.46879613T>G-
NM_002334.4(LRP4):c.*780C>T4038LRP4Uncertain significancers886048344RCV000276045; NMONDO:MONDO:0008931,MedGen:C1859309,OMIM:212780, Orphanet:3258114687975446879754GA11:g.46879754G>AClinGen:CA10638676
NM_002334.4(LRP4):c.*734C>G4038LRP4Uncertain significancers886048345RCV000333468; NMONDO:MONDO:0008931,MedGen:C1859309,OMIM:212780, Orphanet:3258114687980046879800GC11:g.46879800G>CClinGen:CA10639226
NM_002334.4(LRP4):c.*666del4038LRP4Uncertain significancers886048346RCV000367164; NMONDO:MONDO:0008931,MedGen:C1859309,OMIM:212780, Orphanet:3258114687986846879868ACA11:g.46879868_46879868delClinGen:CA10639227
NM_002334.4(LRP4):c.*665G>C4038LRP4Uncertain significance-1RCV001103963; NMONDO:MONDO:0008931,MedGen:C1859309,OMIM:212780, Orphanet:3258114687986946879869CG11:g.46879869C>G-
NM_002334.4(LRP4):c.*609A>T4038LRP4Uncertain significance-1RCV001103964; NMONDO:MONDO:0008931,MedGen:C1859309,OMIM:212780, Orphanet:3258114687992546879925TA11:g.46879925T>A-
NM_002334.4(LRP4):c.*561T>C4038LRP4Benignrs3829940RCV000275228; NMONDO:MONDO:0008931,MedGen:C1859309,OMIM:212780, Orphanet:3258114687997346879973AG11:g.46879973A>GClinGen:CA10638686
NM_002334.4(LRP4):c.*415C>G4038LRP4Uncertain significance-1RCV001104249; NMONDO:MONDO:0008931,MedGen:C1859309,OMIM:212780, Orphanet:3258114688011946880119GC11:g.46880119G>C-
NM_002334.4(LRP4):c.*379C>T4038LRP4Uncertain significance-1RCV001104250; NMONDO:MONDO:0008931,MedGen:C1859309,OMIM:212780, Orphanet:3258114688015546880155GA11:g.46880155G>A-
NM_002334.4(LRP4):c.*372G>A4038LRP4Uncertain significancers532378480RCV000318586; NMONDO:MONDO:0008931,MedGen:C1859309,OMIM:212780, Orphanet:3258114688016246880162CT11:g.46880162C>TClinGen:CA10639229
NM_002334.4(LRP4):c.*363C>T4038LRP4Uncertain significance-1RCV001104251; NMONDO:MONDO:0008931,MedGen:C1859309,OMIM:212780, Orphanet:3258114688017146880171GA11:g.46880171G>A-
NM_002334.4(LRP4):c.*329T>C4038LRP4Uncertain significance-1RCV001104252; NMONDO:MONDO:0008931,MedGen:C1859309,OMIM:212780, Orphanet:3258114688020546880205AG11:g.46880205A>G-
NM_002334.4(LRP4):c.*305C>T4038LRP4Uncertain significancers886048347RCV000375494; NMONDO:MONDO:0008931,MedGen:C1859309,OMIM:212780, Orphanet:3258114688022946880229GA11:g.46880229G>AClinGen:CA10638687
NM_002334.4(LRP4):c.*261C>A4038LRP4Likely benignrs77376145RCV000278662; NMONDO:MONDO:0008931,MedGen:C1859309,OMIM:212780, Orphanet:3258114688027346880273GT11:g.46880273G>TClinGen:CA10630965
NM_002334.4(LRP4):c.*242G>A4038LRP4Uncertain significance-1RCV001104253; NMONDO:MONDO:0008931,MedGen:C1859309,OMIM:212780, Orphanet:3258114688029246880292CT11:g.46880292C>T-
NM_002334.4(LRP4):c.*104C>T4038LRP4Uncertain significancers536278440RCV000323076; NMONDO:MONDO:0008931,MedGen:C1859309,OMIM:212780, Orphanet:3258114688043046880430GA11:g.46880430G>AClinGen:CA10638688
NM_002334.4(LRP4):c.*54G>A4038LRP4Benign-1RCV001105798; NMONDO:MONDO:0008931,MedGen:C1859309,OMIM:212780, Orphanet:3258114688048046880480CT11:g.46880480C>T-
NM_002334.4(LRP4):c.*44T>C4038LRP4Uncertain significancers372674165RCV000380075; NMONDO:MONDO:0008931,MedGen:C1859309,OMIM:212780, Orphanet:3258114688049046880490AG11:g.46880490A>GClinGen:CA10639230
NM_002334.4(LRP4):c.5672C>T (p.Thr1891Met)4038LRP4Uncertain significancers372637156RCV000283272|RCV000699085; NMONDO:MONDO:0008931,MedGen:C1859309,OMIM:212780, Orphanet:3258|MONDO:MONDO:0013679,MedGen:C3280402,OMIM:614305, Orphanet:3152; MONDO:MONDO:0014578,MedGen:C4225377,OMIM:616304, Orphanet:590; MONDO:MONDO:0008931,MedGen:C1859309,OMIM:212780, Orphanet:3258114688058046880580GA11:g.46880580G>AClinGen:CA5968965
NM_002334.4(LRP4):c.5669A>G (p.Asp1890Gly)4038LRP4Uncertain significancers749482785RCV000816387; NMONDO:MONDO:0013679,MedGen:C3280402,OMIM:614305, Orphanet:3152; MONDO:MONDO:0008931,MedGen:C1859309,OMIM:212780, Orphanet:3258; MONDO:MONDO:0014578,MedGen:C4225377,OMIM:616304, Orphanet:590114688058346880583TC11:g.46880583T>C-
NM_002334.4(LRP4):c.5660C>G (p.Ser1887Cys)4038LRP4Conflicting interpretations of pathogenicityrs149082597RCV000360139|RCV000524562|RCV001107019; NMedGen:CN517202|MONDO:MONDO:0008931,MedGen:C1859309,OMIM:212780, Orphanet:3258; MONDO:MONDO:0014578,MedGen:C4225377,OMIM:616304, Orphanet:590; MONDO:MONDO:0013679,MedGen:C3280402,OMIM:614305, Orphanet:3152|MONDO:MONDO:0008931,MedGen:C1859309,OMIM:212780,Orph114688059246880592GC11:g.46880592G>CClinGen:CA5968969C4225377 616304 Myasthenic syndrome, congenital, 17;
NM_002334.4(LRP4):c.5650A>G (p.Arg1884Gly)4038LRP4Uncertain significancers377204138RCV000340576|RCV000643976; NMONDO:MONDO:0008931,MedGen:C1859309,OMIM:212780, Orphanet:3258|MONDO:MONDO:0014578,MedGen:C4225377,OMIM:616304, Orphanet:590; MONDO:MONDO:0008931,MedGen:C1859309,OMIM:212780, Orphanet:3258; MONDO:MONDO:0013679,MedGen:C3280402,OMIM:614305, Orphanet:3152114688060246880602TC11:g.46880602T>CClinGen:CA5968972
NM_002334.4(LRP4):c.5626G>A (p.Val1876Ile)4038LRP4Uncertain significance-1RCV001041223; NMONDO:MONDO:0013679,MedGen:C3280402,OMIM:614305, Orphanet:3152; MONDO:MONDO:0008931,MedGen:C1859309,OMIM:212780, Orphanet:3258; MONDO:MONDO:0014578,MedGen:C4225377,OMIM:616304, Orphanet:590114688062646880626CT11:g.46880626C>T-
NM_002334.4(LRP4):c.5558G>A (p.Ser1853Asn)4038LRP4Uncertain significance-1RCV001213829; NMONDO:MONDO:0013679,MedGen:C3280402,OMIM:614305, Orphanet:3152; MONDO:MONDO:0014578,MedGen:C4225377,OMIM:616304, Orphanet:590; MONDO:MONDO:0008931,MedGen:C1859309,OMIM:212780, Orphanet:3258114688069446880694CT11:g.46880694C>T-
NM_002334.4(LRP4):c.5556C>T (p.Ala1852=)4038LRP4Likely benignrs200514161RCV000643995; NMONDO:MONDO:0014578,MedGen:C4225377,OMIM:616304, Orphanet:590; MONDO:MONDO:0008931,MedGen:C1859309,OMIM:212780, Orphanet:3258; MONDO:MONDO:0013679,MedGen:C3280402,OMIM:614305, Orphanet:3152114688069646880696GA11:g.46880696G>AClinGen:CA5968988
NM_002334.4(LRP4):c.5540C>T (p.Thr1847Met)4038LRP4Uncertain significance-1RCV001036757; NMONDO:MONDO:0013679,MedGen:C3280402,OMIM:614305, Orphanet:3152; MONDO:MONDO:0008931,MedGen:C1859309,OMIM:212780, Orphanet:3258; MONDO:MONDO:0014578,MedGen:C4225377,OMIM:616304, Orphanet:590114688071246880712GA11:g.46880712G>A-
NM_002334.4(LRP4):c.5520T>C (p.His1840=)4038LRP4Conflicting interpretations of pathogenicityrs144350829RCV000394958|RCV000536074; NMONDO:MONDO:0008931,MedGen:C1859309,OMIM:212780, Orphanet:3258|MONDO:MONDO:0008931,MedGen:C1859309,OMIM:212780, Orphanet:3258; MONDO:MONDO:0013679,MedGen:C3280402,OMIM:614305, Orphanet:3152; MONDO:MONDO:0014578,MedGen:C4225377,OMIM:616304, Orphanet:590114688073246880732AG11:g.46880732A>GClinGen:CA5968996
NM_002334.4(LRP4):c.5513G>A (p.Arg1838Gln)4038LRP4Uncertain significancers770309253RCV000412878|RCV000763744|RCV001107020; NMedGen:CN517202|MONDO:MONDO:0008931,MedGen:C1859309,OMIM:212780, Orphanet:3258; MONDO:MONDO:0013679,MedGen:C3280402,OMIM:614305, Orphanet:3152; MONDO:MONDO:0014578,MedGen:C4225377,OMIM:616304, Orphanet:590|MONDO:MONDO:0008931,MedGen:C1859309,OMIM:212780,Orph114688073946880739CT11:g.46880739C>TClinGen:CA5968998CN169374 not specified;
NM_002334.4(LRP4):c.5500G>C (p.Gly1834Arg)4038LRP4Uncertain significance-1RCV001211227; NMONDO:MONDO:0008931,MedGen:C1859309,OMIM:212780, Orphanet:3258; MONDO:MONDO:0013679,MedGen:C3280402,OMIM:614305, Orphanet:3152; MONDO:MONDO:0014578,MedGen:C4225377,OMIM:616304, Orphanet:590114688075246880752CG11:g.46880752C>G-
NM_002334.4(LRP4):c.5489G>A (p.Arg1830Gln)4038LRP4Uncertain significancers146864522RCV000177936|RCV000808408; NMedGen:CN517202|MONDO:MONDO:0013679,MedGen:C3280402,OMIM:614305, Orphanet:3152; MONDO:MONDO:0014578,MedGen:C4225377,OMIM:616304, Orphanet:590; MONDO:MONDO:0008931,MedGen:C1859309,OMIM:212780, Orphanet:3258114688076346880763CT11:g.46880763C>TClinGen:CA244923
NM_002334.4(LRP4):c.5426T>A (p.Ile1809Asn)4038LRP4Uncertain significancers373162825RCV000806941; NMONDO:MONDO:0014578,MedGen:C4225377,OMIM:616304, Orphanet:590; MONDO:MONDO:0008931,MedGen:C1859309,OMIM:212780, Orphanet:3258; MONDO:MONDO:0013679,MedGen:C3280402,OMIM:614305, Orphanet:3152114688082646880826AT11:g.46880826A>T-
NM_002334.4(LRP4):c.5414_5416AGA[1] (p.Lys1806del)4038LRP4Uncertain significancers769465803RCV000707048; NMONDO:MONDO:0014578,MedGen:C4225377,OMIM:616304, Orphanet:590; MONDO:MONDO:0008931,MedGen:C1859309,OMIM:212780, Orphanet:3258; MONDO:MONDO:0013679,MedGen:C3280402,OMIM:614305, Orphanet:3152114688083346880835ATCTA11:g.46880833_46880835del-
NM_002334.4(LRP4):c.5378A>C (p.Lys1793Thr)4038LRP4Uncertain significancers778676466RCV000807196; NMONDO:MONDO:0014578,MedGen:C4225377,OMIM:616304, Orphanet:590; MONDO:MONDO:0008931,MedGen:C1859309,OMIM:212780, Orphanet:3258; MONDO:MONDO:0013679,MedGen:C3280402,OMIM:614305, Orphanet:3152114688416446884164TG11:g.46884164T>G-
NM_002334.4(LRP4):c.5357T>A (p.Met1786Lys)4038LRP4Likely benignrs61748876RCV000177906|RCV000643986; NMedGen:CN169374|MONDO:MONDO:0013679,MedGen:C3280402,OMIM:614305, Orphanet:3152; MONDO:MONDO:0014578,MedGen:C4225377,OMIM:616304, Orphanet:590; MONDO:MONDO:0008931,MedGen:C1859309,OMIM:212780, Orphanet:3258114688418546884185AT11:g.46884185A>TClinGen:CA202656C4225377 616304 Myasthenic syndrome, congenital, 17;
NM_002334.4(LRP4):c.5346C>G (p.Pro1782=)4038LRP4Uncertain significancers759701000RCV000291306; NMONDO:MONDO:0008931,MedGen:C1859309,OMIM:212780, Orphanet:3258114688419646884196GC11:g.46884196G>CClinGen:CA5969061
NM_002334.4(LRP4):c.5330A>C (p.Lys1777Thr)4038LRP4Uncertain significancers541585714RCV000343970; NMONDO:MONDO:0008931,MedGen:C1859309,OMIM:212780, Orphanet:3258114688421246884212TG11:g.46884212T>GClinGen:CA5969064
NM_002334.4(LRP4):c.5259_5267del (p.Lys1753_Asp1756delinsAsn)4038LRP4Uncertain significancers1592509652RCV000792536; NMONDO:MONDO:0008931,MedGen:C1859309,OMIM:212780, Orphanet:3258; MONDO:MONDO:0014578,MedGen:C4225377,OMIM:616304, Orphanet:590; MONDO:MONDO:0013679,MedGen:C3280402,OMIM:614305, Orphanet:3152114688427546884283ATCAGTGAACA11:g.46884275_46884283del-
NM_002334.4(LRP4):c.5194C>T (p.Leu1732Phe)4038LRP4Uncertain significancers1447336134RCV000690648; NMONDO:MONDO:0013679,MedGen:C3280402,OMIM:614305, Orphanet:3152; MONDO:MONDO:0008931,MedGen:C1859309,OMIM:212780, Orphanet:3258; MONDO:MONDO:0014578,MedGen:C4225377,OMIM:616304, Orphanet:590114688604846886048GA11:g.46886048G>A-
NM_002334.4(LRP4):c.5182A>G (p.Ile1728Val)4038LRP4Uncertain significancers148865136RCV000357498|RCV000525905|RCV001107675; NMedGen:CN517202|MONDO:MONDO:0014578,MedGen:C4225377,OMIM:616304, Orphanet:590; MONDO:MONDO:0008931,MedGen:C1859309,OMIM:212780, Orphanet:3258; MONDO:MONDO:0013679,MedGen:C3280402,OMIM:614305, Orphanet:3152|MONDO:MONDO:0008931,MedGen:C1859309,OMIM:212780,Orph114688606046886060TC11:g.46886060T>CClinGen:CA5969114C4225377 616304 Myasthenic syndrome, congenital, 17;
NM_002334.4(LRP4):c.5178C>T (p.Tyr1726=)4038LRP4Likely benignrs372105627RCV000878067; NMONDO:MONDO:0014578,MedGen:C4225377,OMIM:616304, Orphanet:590; MONDO:MONDO:0008931,MedGen:C1859309,OMIM:212780, Orphanet:3258; MONDO:MONDO:0013679,MedGen:C3280402,OMIM:614305, Orphanet:3152114688606446886064GA11:g.46886064G>A-
NM_002334.4(LRP4):c.5165T>A (p.Leu1722His)4038LRP4Benign/Likely benignrs117936904RCV000394967|RCV000536860; NMONDO:MONDO:0008931,MedGen:C1859309,OMIM:212780, Orphanet:3258|MONDO:MONDO:0008931,MedGen:C1859309,OMIM:212780, Orphanet:3258; MONDO:MONDO:0013679,MedGen:C3280402,OMIM:614305, Orphanet:3152; MONDO:MONDO:0014578,MedGen:C4225377,OMIM:616304, Orphanet:590114688607746886077AT11:g.46886077A>TClinGen:CA5969120
NM_002334.4(LRP4):c.5138C>T (p.Ala1713Val)4038LRP4Uncertain significancers1035754612RCV000796485; NMONDO:MONDO:0008931,MedGen:C1859309,OMIM:212780, Orphanet:3258; MONDO:MONDO:0013679,MedGen:C3280402,OMIM:614305, Orphanet:3152; MONDO:MONDO:0014578,MedGen:C4225377,OMIM:616304, Orphanet:590114688668746886687GA11:g.46886687G>A-
NM_002334.4(LRP4):c.5126G>C (p.Arg1709Pro)4038LRP4Uncertain significancers560103351RCV000814332; NMONDO:MONDO:0013679,MedGen:C3280402,OMIM:614305, Orphanet:3152; MONDO:MONDO:0008931,MedGen:C1859309,OMIM:212780, Orphanet:3258; MONDO:MONDO:0014578,MedGen:C4225377,OMIM:616304, Orphanet:590114688669946886699CG11:g.46886699C>G-
NM_002334.4(LRP4):c.5101G>A (p.Asp1701Asn)4038LRP4Uncertain significancers1241649761RCV000799868; NMONDO:MONDO:0014578,MedGen:C4225377,OMIM:616304, Orphanet:590; MONDO:MONDO:0013679,MedGen:C3280402,OMIM:614305, Orphanet:3152; MONDO:MONDO:0008931,MedGen:C1859309,OMIM:212780, Orphanet:3258114688672446886724CT11:g.46886724C>T-
NM_002334.4(LRP4):c.5064G>A (p.Thr1688=)4038LRP4Likely benignrs762976165RCV000892671; NMONDO:MONDO:0008931,MedGen:C1859309,OMIM:212780, Orphanet:3258; MONDO:MONDO:0013679,MedGen:C3280402,OMIM:614305, Orphanet:3152; MONDO:MONDO:0014578,MedGen:C4225377,OMIM:616304, Orphanet:590114688955346889553CT11:g.46889553C>T-
NM_002334.4(LRP4):c.5054G>A (p.Arg1685Gln)4038LRP4Uncertain significancers138238230RCV000551609|RCV000591887|RCV001107676; NMONDO:MONDO:0013679,MedGen:C3280402,OMIM:614305, Orphanet:3152; MONDO:MONDO:0008931,MedGen:C1859309,OMIM:212780, Orphanet:3258; MONDO:MONDO:0014578,MedGen:C4225377,OMIM:616304, Orphanet:590|MedGen:CN517202|MONDO:MONDO:0008931,MedGen:C1859309,OMIM:212780,Orph114688956346889563CT11:g.46889563C>TClinGen:CA5969168C4225377 616304 Myasthenic syndrome, congenital, 17;
NM_002334.4(LRP4):c.5010G>A (p.Val1670=)4038LRP4Benignrs111426027RCV000558543|RCV001107677; NMONDO:MONDO:0008931,MedGen:C1859309,OMIM:212780, Orphanet:3258; MONDO:MONDO:0013679,MedGen:C3280402,OMIM:614305, Orphanet:3152; MONDO:MONDO:0014578,MedGen:C4225377,OMIM:616304, Orphanet:590|MONDO:MONDO:0008931,MedGen:C1859309,OMIM:212780, Orphanet:3258114688960746889607CT11:g.46889607C>TClinGen:CA5969173C4225377 616304 Myasthenic syndrome, congenital, 17;
NM_002334.4(LRP4):c.4991T>C (p.Met1664Thr)4038LRP4Uncertain significance-1RCV001201642; NMONDO:MONDO:0013679,MedGen:C3280402,OMIM:614305, Orphanet:3152; MONDO:MONDO:0014578,MedGen:C4225377,OMIM:616304, Orphanet:590; MONDO:MONDO:0008931,MedGen:C1859309,OMIM:212780, Orphanet:3258114688962646889626AG11:g.46889626A>G-
NM_002334.4(LRP4):c.4990A>G (p.Met1664Val)4038LRP4Uncertain significancers1455143794RCV000690106; NMONDO:MONDO:0013679,MedGen:C3280402,OMIM:614305, Orphanet:3152; MONDO:MONDO:0008931,MedGen:C1859309,OMIM:212780, Orphanet:3258; MONDO:MONDO:0014578,MedGen:C4225377,OMIM:616304, Orphanet:590114688962746889627TC11:g.46889627T>C-
NM_002334.4(LRP4):c.4940C>G (p.Pro1647Arg)4038LRP4Uncertain significance-1RCV001107679; NMONDO:MONDO:0008931,MedGen:C1859309,OMIM:212780, Orphanet:3258114689016246890162GC11:g.46890162G>C-
NM_002334.4(LRP4):c.4937G>A (p.Arg1646Gln)4038LRP4Benignrs3816614RCV000313366; NMONDO:MONDO:0008931,MedGen:C1859309,OMIM:212780, Orphanet:3258114689016546890165CT11:g.46890165C>TClinGen:CA5969200,UniProtKB:O75096#VAR_057957
NM_002334.4(LRP4):c.4936C>T (p.Arg1646Trp)4038LRP4Uncertain significance-1RCV001235688; NMONDO:MONDO:0013679,MedGen:C3280402,OMIM:614305, Orphanet:3152; MONDO:MONDO:0008931,MedGen:C1859309,OMIM:212780, Orphanet:3258; MONDO:MONDO:0014578,MedGen:C4225377,OMIM:616304, Orphanet:590114689016646890166GA11:g.46890166G>A-
NM_002334.4(LRP4):c.4930G>A (p.Asp1644Asn)4038LRP4Uncertain significance-1RCV001104049; NMONDO:MONDO:0008931,MedGen:C1859309,OMIM:212780, Orphanet:3258114689017246890172CT11:g.46890172C>T-
NM_002334.4(LRP4):c.4928C>T (p.Pro1643Leu)4038LRP4Uncertain significancers767372563RCV000370312; NMONDO:MONDO:0008931,MedGen:C1859309,OMIM:212780, Orphanet:3258114689017446890174GA11:g.46890174G>AClinGen:CA10630971
NM_002334.4(LRP4):c.4928C>G (p.Pro1643Arg)4038LRP4Uncertain significancers767372563RCV000800198; NMONDO:MONDO:0008931,MedGen:C1859309,OMIM:212780, Orphanet:3258; MONDO:MONDO:0014578,MedGen:C4225377,OMIM:616304, Orphanet:590; MONDO:MONDO:0013679,MedGen:C3280402,OMIM:614305, Orphanet:3152114689017446890174GC11:g.46890174G>C-
NM_002334.4(LRP4):c.4923C>T (p.Asp1641=)4038LRP4Conflicting interpretations of pathogenicityrs150734530RCV000401700|RCV000875312; NMONDO:MONDO:0008931,MedGen:C1859309,OMIM:212780, Orphanet:3258|MONDO:MONDO:0008931,MedGen:C1859309,OMIM:212780, Orphanet:3258; MONDO:MONDO:0013679,MedGen:C3280402,OMIM:614305, Orphanet:3152; MONDO:MONDO:0014578,MedGen:C4225377,OMIM:616304, Orphanet:590114689017946890179GA11:g.46890179G>AClinGen:CA5969206
NM_002334.4(LRP4):c.4914C>G (p.Ala1638=)4038LRP4Uncertain significance-1RCV001104050; NMONDO:MONDO:0008931,MedGen:C1859309,OMIM:212780, Orphanet:3258114689018846890188GC11:g.46890188G>C-
NM_002334.4(LRP4):c.4905C>T (p.Phe1635=)4038LRP4Benignrs2290883RCV000312135; NMONDO:MONDO:0008931,MedGen:C1859309,OMIM:212780, Orphanet:3258114689019746890197GA11:g.46890197G>AClinGen:CA5969210
NM_002334.4(LRP4):c.4898C>T (p.Ser1633Leu)4038LRP4Uncertain significancers146362081RCV000521557|RCV001068938|RCV001104051; NMedGen:CN517202|MONDO:MONDO:0014578,MedGen:C4225377,OMIM:616304, Orphanet:590; MONDO:MONDO:0008931,MedGen:C1859309,OMIM:212780, Orphanet:3258; MONDO:MONDO:0013679,MedGen:C3280402,OMIM:614305, Orphanet:3152|MONDO:MONDO:0008931,MedGen:C1859309,OMIM:212780,Orph114689020446890204GA11:g.46890204G>AClinGen:CA5969212CN169374 not specified;
NM_002334.4(LRP4):c.4890C>T (p.Ala1630=)4038LRP4Conflicting interpretations of pathogenicityrs550931351RCV000952048|RCV001104052; NMONDO:MONDO:0013679,MedGen:C3280402,OMIM:614305, Orphanet:3152; MONDO:MONDO:0014578,MedGen:C4225377,OMIM:616304, Orphanet:590; MONDO:MONDO:0008931,MedGen:C1859309,OMIM:212780, Orphanet:3258|MONDO:MONDO:0008931,MedGen:C1859309,OMIM:212780, Orphanet:3258114689021246890212GA11:g.46890212G>A-
NM_002334.4(LRP4):c.4850G>A (p.Cys1617Tyr)4038LRP4Uncertain significancers1592515719RCV000822090; NMONDO:MONDO:0013679,MedGen:C3280402,OMIM:614305, Orphanet:3152; MONDO:MONDO:0008931,MedGen:C1859309,OMIM:212780, Orphanet:3258; MONDO:MONDO:0014578,MedGen:C4225377,OMIM:616304, Orphanet:590114689025246890252CT11:g.46890252C>T-
NM_002334.4(LRP4):c.4837+10C>T4038LRP4Benign/Likely benignrs74806847RCV000355421|RCV000543863; NMONDO:MONDO:0008931,MedGen:C1859309,OMIM:212780, Orphanet:3258|MONDO:MONDO:0008931,MedGen:C1859309,OMIM:212780, Orphanet:3258; MONDO:MONDO:0013679,MedGen:C3280402,OMIM:614305, Orphanet:3152; MONDO:MONDO:0014578,MedGen:C4225377,OMIM:616304, Orphanet:590114689052946890529GA11:g.46890529G>AClinGen:CA5969231
NM_002334.4(LRP4):c.4837G>A (p.Gly1613Arg)4038LRP4Uncertain significance-1RCV001063070; NMONDO:MONDO:0013679,MedGen:C3280402,OMIM:614305, Orphanet:3152; MONDO:MONDO:0008931,MedGen:C1859309,OMIM:212780, Orphanet:3258; MONDO:MONDO:0014578,MedGen:C4225377,OMIM:616304, Orphanet:590114689053946890539CT11:g.46890539C>T-
NM_002334.4(LRP4):c.4829G>A (p.Arg1610Gln)4038LRP4Uncertain significance-1RCV001050188; NMONDO:MONDO:0013679,MedGen:C3280402,OMIM:614305, Orphanet:3152; MONDO:MONDO:0008931,MedGen:C1859309,OMIM:212780, Orphanet:3258; MONDO:MONDO:0014578,MedGen:C4225377,OMIM:616304, Orphanet:590114689054746890547CT11:g.46890547C>T-
NM_002334.4(LRP4):c.4807A>G (p.Ile1603Val)4038LRP4Likely benignrs147688807RCV000981777; NMONDO:MONDO:0008931,MedGen:C1859309,OMIM:212780, Orphanet:3258; MONDO:MONDO:0013679,MedGen:C3280402,OMIM:614305, Orphanet:3152; MONDO:MONDO:0014578,MedGen:C4225377,OMIM:616304, Orphanet:590114689056946890569TC11:g.46890569T>C-
NM_002334.4(LRP4):c.4763G>A (p.Arg1588Gln)4038LRP4Uncertain significance-1RCV001104356; NMONDO:MONDO:0008931,MedGen:C1859309,OMIM:212780, Orphanet:3258114689061346890613CT11:g.46890613C>T-
NM_002334.4(LRP4):c.4699A>T (p.Arg1567Trp)4038LRP4Uncertain significancers199747378RCV000695705; NMONDO:MONDO:0014578,MedGen:C4225377,OMIM:616304, Orphanet:590; MONDO:MONDO:0013679,MedGen:C3280402,OMIM:614305, Orphanet:3152; MONDO:MONDO:0008931,MedGen:C1859309,OMIM:212780, Orphanet:3258114689067746890677TA11:g.46890677T>A-
NM_002334.4(LRP4):c.4693-9G>A4038LRP4Uncertain significance-1RCV001104357; NMONDO:MONDO:0008931,MedGen:C1859309,OMIM:212780, Orphanet:3258114689069246890692CT11:g.46890692C>T-
NM_002334.4(LRP4):c.4674C>T (p.His1558=)4038LRP4Benign/Likely benignrs61742905RCV000873717|RCV001104358; NMONDO:MONDO:0008931,MedGen:C1859309,OMIM:212780, Orphanet:3258; MONDO:MONDO:0014578,MedGen:C4225377,OMIM:616304, Orphanet:590; MONDO:MONDO:0013679,MedGen:C3280402,OMIM:614305, Orphanet:3152|MONDO:MONDO:0008931,MedGen:C1859309,OMIM:212780, Orphanet:3258114689309446893094GA11:g.46893094G>A-
NM_002334.4(LRP4):c.4665T>C (p.His1555=)4038LRP4Likely benignrs145206396RCV000954548; NMONDO:MONDO:0008931,MedGen:C1859309,OMIM:212780, Orphanet:3258; MONDO:MONDO:0013679,MedGen:C3280402,OMIM:614305, Orphanet:3152; MONDO:MONDO:0014578,MedGen:C4225377,OMIM:616304, Orphanet:590114689310346893103AG11:g.46893103A>G-
NM_002334.4(LRP4):c.4660A>G (p.Ser1554Gly)4038LRP4Benignrs2306029RCV000262910; NMONDO:MONDO:0008931,MedGen:C1859309,OMIM:212780, Orphanet:3258114689310846893108TC11:g.46893108T>CClinGen:CA5969269,UniProtKB:O75096#VAR_057956
NM_002334.4(LRP4):c.4646G>A (p.Arg1549Gln)4038LRP4Uncertain significancers886048348RCV000315876|RCV000821968; NMONDO:MONDO:0008931,MedGen:C1859309,OMIM:212780, Orphanet:3258|MONDO:MONDO:0008931,MedGen:C1859309,OMIM:212780, Orphanet:3258; MONDO:MONDO:0013679,MedGen:C3280402,OMIM:614305, Orphanet:3152; MONDO:MONDO:0014578,MedGen:C4225377,OMIM:616304, Orphanet:590114689312246893122CT11:g.46893122C>TClinGen:CA10635013
NM_002334.4(LRP4):c.4613G>A (p.Arg1538Gln)4038LRP4Conflicting interpretations of pathogenicityrs140495790RCV000354293|RCV000876033; NMedGen:CN239274|MONDO:MONDO:0008931,MedGen:C1859309,OMIM:212780, Orphanet:3258; MONDO:MONDO:0013679,MedGen:C3280402,OMIM:614305, Orphanet:3152; MONDO:MONDO:0014578,MedGen:C4225377,OMIM:616304, Orphanet:590114689315546893155CT11:g.46893155C>TClinGen:CA5969276
NM_002334.4(LRP4):c.4594G>C (p.Val1532Leu)4038LRP4Uncertain significance-1RCV001062124; NMONDO:MONDO:0013679,MedGen:C3280402,OMIM:614305, Orphanet:3152; MONDO:MONDO:0008931,MedGen:C1859309,OMIM:212780, Orphanet:3258; MONDO:MONDO:0014578,MedGen:C4225377,OMIM:616304, Orphanet:590114689317446893174CG11:g.46893174C>G-
NM_002334.4(LRP4):c.4584-5C>T4038LRP4Likely benignrs183295145RCV000878573; NMONDO:MONDO:0008931,MedGen:C1859309,OMIM:212780, Orphanet:3258; MONDO:MONDO:0013679,MedGen:C3280402,OMIM:614305, Orphanet:3152; MONDO:MONDO:0014578,MedGen:C4225377,OMIM:616304, Orphanet:590114689318946893189GA11:g.46893189G>A-
NM_002334.4(LRP4):c.4579C>T (p.Arg1527Cys)4038LRP4Uncertain significancers756059712RCV000800392; NMONDO:MONDO:0008931,MedGen:C1859309,OMIM:212780, Orphanet:3258; MONDO:MONDO:0014578,MedGen:C4225377,OMIM:616304, Orphanet:590; MONDO:MONDO:0013679,MedGen:C3280402,OMIM:614305, Orphanet:3152114689465546894655GA11:g.46894655G>A-
NM_002334.4(LRP4):c.4544G>C (p.Gly1515Ala)4038LRP4Uncertain significancers758635404RCV000816928; NMONDO:MONDO:0013679,MedGen:C3280402,OMIM:614305, Orphanet:3152; MONDO:MONDO:0008931,MedGen:C1859309,OMIM:212780, Orphanet:3258; MONDO:MONDO:0014578,MedGen:C4225377,OMIM:616304, Orphanet:590114689469046894690CG11:g.46894690C>G-
NM_002334.4(LRP4):c.4536A>T (p.Thr1512=)4038LRP4Conflicting interpretations of pathogenicityrs144169411RCV000267197|RCV000874022; NMONDO:MONDO:0008931,MedGen:C1859309,OMIM:212780, Orphanet:3258|MONDO:MONDO:0008931,MedGen:C1859309,OMIM:212780, Orphanet:3258; MONDO:MONDO:0013679,MedGen:C3280402,OMIM:614305, Orphanet:3152; MONDO:MONDO:0014578,MedGen:C4225377,OMIM:616304, Orphanet:590114689469846894698TA11:g.46894698T>AClinGen:CA5969304
NM_002334.4(LRP4):c.4516C>T (p.Arg1506Trp)4038LRP4Uncertain significancers766025454RCV000687404; NMONDO:MONDO:0008931,MedGen:C1859309,OMIM:212780, Orphanet:3258; MONDO:MONDO:0013679,MedGen:C3280402,OMIM:614305, Orphanet:3152; MONDO:MONDO:0014578,MedGen:C4225377,OMIM:616304, Orphanet:590114689471846894718GA11:g.46894718G>A-C4225377 616304 Myasthenic syndrome, congenital, 17;
NM_002334.4(LRP4):c.4505A>C (p.Asp1502Ala)4038LRP4Uncertain significancers200506943RCV000537634; NMONDO:MONDO:0013679,MedGen:C3280402,OMIM:614305, Orphanet:3152; MONDO:MONDO:0014578,MedGen:C4225377,OMIM:616304, Orphanet:590; MONDO:MONDO:0008931,MedGen:C1859309,OMIM:212780, Orphanet:3258114689472946894729TG11:g.46894729T>GClinGen:CA5969314C4225377 616304 Myasthenic syndrome, congenital, 17;
NM_002334.4(LRP4):c.4493G>A (p.Arg1498Gln)4038LRP4Uncertain significancers764079526RCV000559331; NMONDO:MONDO:0013679,MedGen:C3280402,OMIM:614305, Orphanet:3152; MONDO:MONDO:0014578,MedGen:C4225377,OMIM:616304, Orphanet:590; MONDO:MONDO:0008931,MedGen:C1859309,OMIM:212780, Orphanet:3258114689474146894741CT11:g.46894741C>TClinGen:CA5969320C4225377 616304 Myasthenic syndrome, congenital, 17;
NM_002334.4(LRP4):c.4408C>T (p.Leu1470=)4038LRP4Likely benignrs372569948RCV000643990|RCV001080504; NMedGen:CN517202|MONDO:MONDO:0008931,MedGen:C1859309,OMIM:212780, Orphanet:3258; MONDO:MONDO:0013679,MedGen:C3280402,OMIM:614305, Orphanet:3152; MONDO:MONDO:0014578,MedGen:C4225377,OMIM:616304, Orphanet:590114689496646894966GA11:g.46894966G>AClinGen:CA5969345
NM_002334.4(LRP4):c.4400A>G (p.Asn1467Ser)4038LRP4Uncertain significancers886048349RCV000324709; NMONDO:MONDO:0008931,MedGen:C1859309,OMIM:212780, Orphanet:3258114689497446894974TC11:g.46894974T>CClinGen:CA10638692
NM_002334.4(LRP4):c.4384C>T (p.Arg1462Cys)4038LRP4Uncertain significance-1RCV001104359; NMONDO:MONDO:0008931,MedGen:C1859309,OMIM:212780, Orphanet:3258114689499046894990GA11:g.46894990G>A-
NM_002334.4(LRP4):c.4322A>G (p.Asn1441Ser)4038LRP4Uncertain significancers886048350RCV000376983; NMONDO:MONDO:0008931,MedGen:C1859309,OMIM:212780, Orphanet:3258114689505246895052TC11:g.46895052T>CClinGen:CA10635016C1859309 212780 Syndactyly Cenani Lenz type;
NM_002334.4(LRP4):c.4293C>T (p.Asp1431=)4038LRP4Conflicting interpretations of pathogenicityrs17848229RCV000284639|RCV000876879; NMONDO:MONDO:0008931,MedGen:C1859309,OMIM:212780, Orphanet:3258|MedGen:CN517202114689508146895081GA11:g.46895081G>AClinGen:CA5969364C1859309 212780 Syndactyly Cenani Lenz type;
NM_002334.4(LRP4):c.4274G>A (p.Arg1425Gln)4038LRP4Uncertain significancers143444937RCV000327975|RCV000794293; NMONDO:MONDO:0008931,MedGen:C1859309,OMIM:212780, Orphanet:3258|MONDO:MONDO:0008931,MedGen:C1859309,OMIM:212780, Orphanet:3258; MONDO:MONDO:0013679,MedGen:C3280402,OMIM:614305, Orphanet:3152; MONDO:MONDO:0014578,MedGen:C4225377,OMIM:616304, Orphanet:590114689510046895100CT11:g.46895100C>TClinGen:CA5969365
NM_002334.4(LRP4):c.4269C>T (p.Ile1423=)4038LRP4Likely benignrs952249452RCV000643989; NMONDO:MONDO:0014578,MedGen:C4225377,OMIM:616304, Orphanet:590; MONDO:MONDO:0013679,MedGen:C3280402,OMIM:614305, Orphanet:3152; MONDO:MONDO:0008931,MedGen:C1859309,OMIM:212780, Orphanet:3258114689510546895105GA11:g.46895105G>AClinGen:CA221626687
NM_002334.4(LRP4):c.4255A>G (p.Met1419Val)4038LRP4Likely benignrs779526693RCV000874608; NMONDO:MONDO:0008931,MedGen:C1859309,OMIM:212780, Orphanet:3258; MONDO:MONDO:0014578,MedGen:C4225377,OMIM:616304, Orphanet:590; MONDO:MONDO:0013679,MedGen:C3280402,OMIM:614305, Orphanet:3152114689511946895119TC11:g.46895119T>C-
NM_002334.4(LRP4):c.4230-10T>C4038LRP4Uncertain significance-1RCV001056426; NMONDO:MONDO:0013679,MedGen:C3280402,OMIM:614305, Orphanet:3152; MONDO:MONDO:0008931,MedGen:C1859309,OMIM:212780, Orphanet:3258; MONDO:MONDO:0014578,MedGen:C4225377,OMIM:616304, Orphanet:590114689515446895154AG11:g.46895154A>G-
NM_002334.4(LRP4):c.4154A>G (p.Asn1385Ser)4038LRP4Uncertain significancers768733310RCV000704986; NMONDO:MONDO:0008931,MedGen:C1859309,OMIM:212780, Orphanet:3258; MONDO:MONDO:0014578,MedGen:C4225377,OMIM:616304, Orphanet:590; MONDO:MONDO:0013679,MedGen:C3280402,OMIM:614305, Orphanet:3152114689642646896426TC11:g.46896426T>C-
NM_002334.4(LRP4):c.4148A>C (p.Glu1383Ala)4038LRP4Uncertain significance-1RCV001035393; NMONDO:MONDO:0013679,MedGen:C3280402,OMIM:614305, Orphanet:3152; MONDO:MONDO:0008931,MedGen:C1859309,OMIM:212780, Orphanet:3258; MONDO:MONDO:0014578,MedGen:C4225377,OMIM:616304, Orphanet:590114689643246896432TG11:g.46896432T>G-
NM_002334.4(LRP4):c.4144C>T (p.Pro1382Ser)4038LRP4Uncertain significancers765240067RCV000694855; NMONDO:MONDO:0013679,MedGen:C3280402,OMIM:614305, Orphanet:3152; MONDO:MONDO:0014578,MedGen:C4225377,OMIM:616304, Orphanet:590; MONDO:MONDO:0008931,MedGen:C1859309,OMIM:212780, Orphanet:3258114689643646896436GA11:g.46896436G>A-
NM_002334.4(LRP4):c.4102T>C (p.Ser1368Pro)4038LRP4Uncertain significancers1565782170RCV000687542; NMONDO:MONDO:0014578,MedGen:C4225377,OMIM:616304, Orphanet:590; MONDO:MONDO:0008931,MedGen:C1859309,OMIM:212780, Orphanet:3258; MONDO:MONDO:0013679,MedGen:C3280402,OMIM:614305, Orphanet:3152114689647846896478AG11:g.46896478A>G-
NM_002334.4(LRP4):c.4094G>A (p.Arg1365Gln)4038LRP4Uncertain significance-1RCV001107103; NMONDO:MONDO:0008931,MedGen:C1859309,OMIM:212780, Orphanet:3258114689648646896486CT11:g.46896486C>T-
NM_002334.4(LRP4):c.4082G>A (p.Arg1361His)4038LRP4Uncertain significance-1RCV001035496; NMONDO:MONDO:0013679,MedGen:C3280402,OMIM:614305, Orphanet:3152; MONDO:MONDO:0008931,MedGen:C1859309,OMIM:212780, Orphanet:3258; MONDO:MONDO:0014578,MedGen:C4225377,OMIM:616304, Orphanet:590114689649846896498CT11:g.46896498C>T-
NM_002334.4(LRP4):c.3955G>A (p.Gly1319Ser)4038LRP4Uncertain significance-1RCV001206320; NMONDO:MONDO:0008931,MedGen:C1859309,OMIM:212780, Orphanet:3258; MONDO:MONDO:0013679,MedGen:C3280402,OMIM:614305, Orphanet:3152; MONDO:MONDO:0014578,MedGen:C4225377,OMIM:616304, Orphanet:590114689662546896625CT11:g.46896625C>T-
NM_002334.4(LRP4):c.3945G>A (p.Ser1315=)4038LRP4Benign/Likely benignrs61733844RCV000384785|RCV000544655; NMONDO:MONDO:0008931,MedGen:C1859309,OMIM:212780, Orphanet:3258|MONDO:MONDO:0008931,MedGen:C1859309,OMIM:212780, Orphanet:3258; MONDO:MONDO:0013679,MedGen:C3280402,OMIM:614305, Orphanet:3152; MONDO:MONDO:0014578,MedGen:C4225377,OMIM:616304, Orphanet:590114689663546896635CT11:g.46896635C>TClinGen:CA5969431
NM_002334.4(LRP4):c.3944C>T (p.Ser1315Leu)4038LRP4Conflicting interpretations of pathogenicityrs150681693RCV000288021|RCV000734104|RCV001082274; NMONDO:MONDO:0008931,MedGen:C1859309,OMIM:212780, Orphanet:3258|MedGen:CN517202|MONDO:MONDO:0013679,MedGen:C3280402,OMIM:614305, Orphanet:3152; MONDO:MONDO:0008931,MedGen:C1859309,OMIM:212780, Orphanet:3258; MONDO:MONDO:0014578,MedGen:C4225377,OMIM:616304,Orp114689663646896636GA11:g.46896636G>AClinGen:CA5969432
NM_002334.4(LRP4):c.3940G>A (p.Gly1314Ser)4038LRP4Uncertain significance-1RCV001053583; NMONDO:MONDO:0013679,MedGen:C3280402,OMIM:614305, Orphanet:3152; MONDO:MONDO:0008931,MedGen:C1859309,OMIM:212780, Orphanet:3258; MONDO:MONDO:0014578,MedGen:C4225377,OMIM:616304, Orphanet:590114689664046896640CT11:g.46896640C>T-
NM_002334.4(LRP4):c.3919C>T (p.Pro1307Ser)4038LRP4Uncertain significancers771126504RCV000529893; NMONDO:MONDO:0013679,MedGen:C3280402,OMIM:614305, Orphanet:3152; MONDO:MONDO:0014578,MedGen:C4225377,OMIM:616304, Orphanet:590; MONDO:MONDO:0008931,MedGen:C1859309,OMIM:212780, Orphanet:3258114689701346897013GA11:g.46897013G>AClinGen:CA5969457C4225377 616304 Myasthenic syndrome, congenital, 17;
NM_002334.4(LRP4):c.3839A>G (p.Lys1280Arg)4038LRP4Uncertain significancers371205300RCV000808919; NMONDO:MONDO:0013679,MedGen:C3280402,OMIM:614305, Orphanet:3152; MONDO:MONDO:0014578,MedGen:C4225377,OMIM:616304, Orphanet:590; MONDO:MONDO:0008931,MedGen:C1859309,OMIM:212780, Orphanet:3258114689709346897093TC11:g.46897093T>C-
NM_002334.4(LRP4):c.3830G>A (p.Arg1277His)4038LRP4Uncertain significancers746136135RCV000170321|RCV000691410; NMONDO:MONDO:0014578,MedGen:C4225377,OMIM:616304, Orphanet:590|MONDO:MONDO:0013679,MedGen:C3280402,OMIM:614305, Orphanet:3152; MONDO:MONDO:0014578,MedGen:C4225377,OMIM:616304, Orphanet:590; MONDO:MONDO:0008931,MedGen:C1859309,OMIM:212780, Orphanet:3258114689710246897102CT11:g.46897102C>TClinGen:CA199516,UniProtKB:O75096#VAR_073696,OMIM:604270.0012
NM_002334.4(LRP4):c.3818G>C (p.Arg1273Pro)4038LRP4Uncertain significancers747456405RCV000345358; NMONDO:MONDO:0008931,MedGen:C1859309,OMIM:212780, Orphanet:3258114689711446897114CG11:g.46897114C>GClinGen:CA10635017
NM_002334.4(LRP4):c.3817C>A (p.Arg1273=)4038LRP4Conflicting interpretations of pathogenicityrs61746928RCV000192848|RCV000555565|RCV001107104; NMedGen:CN169374|MONDO:MONDO:0013679,MedGen:C3280402,OMIM:614305, Orphanet:3152; MONDO:MONDO:0014578,MedGen:C4225377,OMIM:616304, Orphanet:590; MONDO:MONDO:0008931,MedGen:C1859309,OMIM:212780, Orphanet:3258|MONDO:MONDO:0008931,MedGen:C1859309,OMIM:212780,Orph114689711546897115GT11:g.46897115G>TClinGen:CA205956
NM_002334.4(LRP4):c.3756G>A (p.Val1252=)4038LRP4Likely benignrs75923112RCV000545423; NMONDO:MONDO:0014578,MedGen:C4225377,OMIM:616304, Orphanet:590; MONDO:MONDO:0013679,MedGen:C3280402,OMIM:614305, Orphanet:3152; MONDO:MONDO:0008931,MedGen:C1859309,OMIM:212780, Orphanet:3258114689717646897176CT11:g.46897176C>TClinGen:CA5969489C4225377 616304 Myasthenic syndrome, congenital, 17;
NM_002334.4(LRP4):c.3753G>A (p.Pro1251=)4038LRP4Likely benignrs140010759RCV000882097; NMONDO:MONDO:0014578,MedGen:C4225377,OMIM:616304, Orphanet:590; MONDO:MONDO:0008931,MedGen:C1859309,OMIM:212780, Orphanet:3258; MONDO:MONDO:0013679,MedGen:C3280402,OMIM:614305, Orphanet:3152114689717946897179CT11:g.46897179C>T-
NM_002334.4(LRP4):c.3752C>T (p.Pro1251Leu)4038LRP4Uncertain significancers145422541RCV000402952; NMONDO:MONDO:0008931,MedGen:C1859309,OMIM:212780, Orphanet:3258114689718046897180GA11:g.46897180G>AClinGen:CA5969491
NM_002334.4(LRP4):c.3709G>T (p.Ala1237Ser)4038LRP4Uncertain significancers748719669RCV000296675; NMONDO:MONDO:0008931,MedGen:C1859309,OMIM:212780, Orphanet:3258114689722346897223CA11:g.46897223C>AClinGen:CA5969498
NM_002334.4(LRP4):c.3699+5G>C4038LRP4Uncertain significancers745544336RCV000349390|RCV001049170; NMONDO:MONDO:0008931,MedGen:C1859309,OMIM:212780, Orphanet:3258|MONDO:MONDO:0008931,MedGen:C1859309,OMIM:212780, Orphanet:3258; MONDO:MONDO:0013679,MedGen:C3280402,OMIM:614305, Orphanet:3152; MONDO:MONDO:0014578,MedGen:C4225377,OMIM:616304, Orphanet:590114689735046897350CG11:g.46897350C>GClinGen:CA5969522
NM_002334.4(LRP4):c.3620A>G (p.Asn1207Ser)4038LRP4Conflicting interpretations of pathogenicityrs151234321RCV000393021|RCV000394052|RCV001087525; NMedGen:CN517202|MONDO:MONDO:0008931,MedGen:C1859309,OMIM:212780, Orphanet:3258|MONDO:MONDO:0013679,MedGen:C3280402,OMIM:614305, Orphanet:3152; MONDO:MONDO:0008931,MedGen:C1859309,OMIM:212780, Orphanet:3258; MONDO:MONDO:0014578,MedGen:C4225377,OMIM:616304,Orp114689743446897434TC11:g.46897434T>CClinGen:CA5969530C4225377 616304 Myasthenic syndrome, congenital, 17;
NM_002334.4(LRP4):c.3615C>T (p.Leu1205=)4038LRP4Uncertain significance-1RCV001107775; NMONDO:MONDO:0008931,MedGen:C1859309,OMIM:212780, Orphanet:3258114689743946897439GA11:g.46897439G>A-
NM_002334.4(LRP4):c.3608C>T (p.Ala1203Val)4038LRP4Benignrs2306033RCV000300095; NMONDO:MONDO:0008931,MedGen:C1859309,OMIM:212780, Orphanet:3258114689744646897446GA11:g.46897446G>AClinGen:CA5969532,UniProtKB:O75096#VAR_058291
NM_002334.4(LRP4):c.3586G>A (p.Gly1196Arg)4038LRP4Uncertain significance-1RCV001244513; NMONDO:MONDO:0008931,MedGen:C1859309,OMIM:212780, Orphanet:3258; MONDO:MONDO:0014578,MedGen:C4225377,OMIM:616304, Orphanet:590; MONDO:MONDO:0013679,MedGen:C3280402,OMIM:614305, Orphanet:3152114689746846897468CT11:g.46897468C>T-
NM_002334.4(LRP4):c.3581G>A (p.Arg1194Gln)4038LRP4Uncertain significancers369916883RCV000698136; NMONDO:MONDO:0008931,MedGen:C1859309,OMIM:212780, Orphanet:3258; MONDO:MONDO:0013679,MedGen:C3280402,OMIM:614305, Orphanet:3152; MONDO:MONDO:0014578,MedGen:C4225377,OMIM:616304, Orphanet:590114689747346897473CT11:g.46897473C>T-
NM_002334.4(LRP4):c.3557G>C (p.Trp1186Ser)4038LRP4Conflicting interpretations of pathogenicityrs387906883RCV000023363|RCV000490108|RCV000800068; NMONDO:MONDO:0013679,MedGen:C3280402,OMIM:614305, Orphanet:3152|MedGen:CN517202|MONDO:MONDO:0013679,MedGen:C3280402,OMIM:614305, Orphanet:3152; MONDO:MONDO:0008931,MedGen:C1859309,OMIM:212780, Orphanet:3258; MONDO:MONDO:0014578,MedGen:C4225377,OMIM:616304,Orp114689749746897497CG11:g.46897497C>GClinGen:CA129194,UniProtKB:O75096#VAR_066631,OMIM:604270.0009
NM_002334.4(LRP4):c.3509G>A (p.Arg1170Gln)4038LRP4Uncertain significance-1RCV001107776; NMONDO:MONDO:0008931,MedGen:C1859309,OMIM:212780, Orphanet:3258114689804446898044CT11:g.46898044C>T-
NM_002334.4(LRP4):c.3472C>T (p.Arg1158Trp)4038LRP4Uncertain significancers886048351RCV000338690; NMONDO:MONDO:0008931,MedGen:C1859309,OMIM:212780, Orphanet:3258114689808146898081GA11:g.46898081G>AClinGen:CA10630983
NM_002334.4(LRP4):c.3451G>A (p.Gly1151Ser)4038LRP4Uncertain significance-1RCV001207470; NMONDO:MONDO:0008931,MedGen:C1859309,OMIM:212780, Orphanet:3258; MONDO:MONDO:0013679,MedGen:C3280402,OMIM:614305, Orphanet:3152; MONDO:MONDO:0014578,MedGen:C4225377,OMIM:616304, Orphanet:590114689810246898102CT11:g.46898102C>T-
NM_002334.4(LRP4):c.3429G>A (p.Thr1143=)4038LRP4Conflicting interpretations of pathogenicityrs137882536RCV000874686|RCV001107777; NMONDO:MONDO:0008931,MedGen:C1859309,OMIM:212780, Orphanet:3258; MONDO:MONDO:0014578,MedGen:C4225377,OMIM:616304, Orphanet:590; MONDO:MONDO:0013679,MedGen:C3280402,OMIM:614305, Orphanet:3152|MONDO:MONDO:0008931,MedGen:C1859309,OMIM:212780, Orphanet:3258114689812446898124CT11:g.46898124C>T-
NM_002334.4(LRP4):c.3428C>T (p.Thr1143Met)4038LRP4Uncertain significancers751933622RCV000643984; NMONDO:MONDO:0008931,MedGen:C1859309,OMIM:212780, Orphanet:3258; MONDO:MONDO:0013679,MedGen:C3280402,OMIM:614305, Orphanet:3152; MONDO:MONDO:0014578,MedGen:C4225377,OMIM:616304, Orphanet:590114689812546898125GA11:g.46898125G>AClinGen:CA5969598C4225377 616304 Myasthenic syndrome, congenital, 17;
NM_002334.4(LRP4):c.3407G>A (p.Arg1136Gln)4038LRP4Uncertain significancers61736853RCV000329322|RCV000643985; NMedGen:CN517202|MONDO:MONDO:0008931,MedGen:C1859309,OMIM:212780, Orphanet:3258; MONDO:MONDO:0013679,MedGen:C3280402,OMIM:614305, Orphanet:3152; MONDO:MONDO:0014578,MedGen:C4225377,OMIM:616304, Orphanet:590114689814646898146CT11:g.46898146C>TClinGen:CA5969602C4225377 616304 Myasthenic syndrome, congenital, 17;
NM_002334.4(LRP4):c.3346G>A (p.Glu1116Lys)4038LRP4Uncertain significancers1253557298RCV000790992|RCV000790993; NMONDO:MONDO:0008931,MedGen:C1859309,OMIM:212780, Orphanet:3258|MONDO:MONDO:0014578,MedGen:C4225377,OMIM:616304, Orphanet:590114689831346898313CT11:g.46898313C>T-
NM_002334.4(LRP4):c.3331G>A (p.Asp1111Asn)4038LRP4Uncertain significancers770071302RCV000696798; NMONDO:MONDO:0013679,MedGen:C3280402,OMIM:614305, Orphanet:3152; MONDO:MONDO:0014578,MedGen:C4225377,OMIM:616304, Orphanet:590; MONDO:MONDO:0008931,MedGen:C1859309,OMIM:212780, Orphanet:3258114689832846898328CT11:g.46898328C>T-C4225377 616304 Myasthenic syndrome, congenital, 17;
NM_002334.4(LRP4):c.3278-6C>T4038LRP4Uncertain significancers373579793RCV000399500; NMONDO:MONDO:0008931,MedGen:C1859309,OMIM:212780, Orphanet:3258114689838746898387GA11:g.46898387G>AClinGen:CA10638695
NM_002334.4(LRP4):c.3256A>G (p.Ile1086Val)4038LRP4Benignrs6485702RCV000299043|RCV000592035; NMONDO:MONDO:0008931,MedGen:C1859309,OMIM:212780, Orphanet:3258|MedGen:CN169374114689877146898771TC11:g.46898771T>CClinGen:CA5969662,UniProtKB:O75096#VAR_057955
NM_002334.4(LRP4):c.3255_3256delinsAC (p.Ile1086Leu)4038LRP4Uncertain significancers1555172311RCV000530766; NMONDO:MONDO:0013679,MedGen:C3280402,OMIM:614305, Orphanet:3152; MONDO:MONDO:0008931,MedGen:C1859309,OMIM:212780, Orphanet:3258; MONDO:MONDO:0014578,MedGen:C4225377,OMIM:616304, Orphanet:590114689877146898772TGGTNC_000011.9:g.46898771_46898772delinsGTClinGen:CA658658050C4225377 616304 Myasthenic syndrome, congenital, 17;
NM_002334.4(LRP4):c.3195C>T (p.Asp1065=)4038LRP4Likely benignrs745991521RCV000893853; NMONDO:MONDO:0008931,MedGen:C1859309,OMIM:212780, Orphanet:3258; MONDO:MONDO:0013679,MedGen:C3280402,OMIM:614305, Orphanet:3152; MONDO:MONDO:0014578,MedGen:C4225377,OMIM:616304, Orphanet:590114689883246898832GA11:g.46898832G>A-
NM_002334.4(LRP4):c.3073G>C (p.Gly1025Arg)4038LRP4Uncertain significancers141565454RCV000994626|RCV001059429|RCV001104141; NMedGen:CN517202|MONDO:MONDO:0008931,MedGen:C1859309,OMIM:212780, Orphanet:3258; MONDO:MONDO:0013679,MedGen:C3280402,OMIM:614305, Orphanet:3152; MONDO:MONDO:0014578,MedGen:C4225377,OMIM:616304, Orphanet:590|MONDO:MONDO:0008931,MedGen:C1859309,OMIM:212780,Orph114690052146900521CG11:g.46900521C>G-
NM_002334.4(LRP4):c.3067C>T (p.Pro1023Ser)4038LRP4Uncertain significance-1RCV001066200; NMONDO:MONDO:0013679,MedGen:C3280402,OMIM:614305, Orphanet:3152; MONDO:MONDO:0008931,MedGen:C1859309,OMIM:212780, Orphanet:3258; MONDO:MONDO:0014578,MedGen:C4225377,OMIM:616304, Orphanet:590114690052746900527GA11:g.46900527G>A-
NM_002334.4(LRP4):c.3064A>G (p.Asn1022Asp)4038LRP4Conflicting interpretations of pathogenicityrs61742871RCV000361080|RCV000730173|RCV001088254; NMONDO:MONDO:0008931,MedGen:C1859309,OMIM:212780, Orphanet:3258|MedGen:CN517202|MONDO:MONDO:0013679,MedGen:C3280402,OMIM:614305, Orphanet:3152; MONDO:MONDO:0008931,MedGen:C1859309,OMIM:212780, Orphanet:3258; MONDO:MONDO:0014578,MedGen:C4225377,OMIM:616304,Orp114690053046900530TC11:g.46900530T>CClinGen:CA5969707
NM_002334.4(LRP4):c.3022A>G (p.Met1008Val)4038LRP4Uncertain significancers886048352RCV000264061; NMONDO:MONDO:0008931,MedGen:C1859309,OMIM:212780, Orphanet:3258114690057246900572TC11:g.46900572T>CClinGen:CA10635022
NM_002334.4(LRP4):c.2980G>A (p.Val994Ile)4038LRP4Uncertain significancers370091369RCV000800789; NMONDO:MONDO:0013679,MedGen:C3280402,OMIM:614305, Orphanet:3152; MONDO:MONDO:0008931,MedGen:C1859309,OMIM:212780, Orphanet:3258; MONDO:MONDO:0014578,MedGen:C4225377,OMIM:616304, Orphanet:590114690070146900701CT11:g.46900701C>T-
NM_002334.4(LRP4):c.2958G>A (p.Leu986=)4038LRP4Uncertain significancers541593593RCV000302711; NMONDO:MONDO:0008931,MedGen:C1859309,OMIM:212780, Orphanet:3258114690072346900723CT11:g.46900723C>TClinGen:CA5969747
NM_002334.4(LRP4):c.2935C>T (p.Arg979Trp)4038LRP4Uncertain significance-1RCV001233776; NMONDO:MONDO:0014578,MedGen:C4225377,OMIM:616304, Orphanet:590; MONDO:MONDO:0008931,MedGen:C1859309,OMIM:212780, Orphanet:3258; MONDO:MONDO:0013679,MedGen:C3280402,OMIM:614305, Orphanet:3152114690074646900746GA11:g.46900746G>A-
NM_002334.4(LRP4):c.2868G>A (p.Glu956=)4038LRP4Conflicting interpretations of pathogenicityrs145460760RCV000643991|RCV001104142; NMONDO:MONDO:0013679,MedGen:C3280402,OMIM:614305, Orphanet:3152; MONDO:MONDO:0014578,MedGen:C4225377,OMIM:616304, Orphanet:590; MONDO:MONDO:0008931,MedGen:C1859309,OMIM:212780, Orphanet:3258|MONDO:MONDO:0008931,MedGen:C1859309,OMIM:212780, Orphanet:3258114690081346900813CT11:g.46900813C>TClinGen:CA5969762
NM_002334.4(LRP4):c.2866G>T (p.Glu956Ter)4038LRP4Pathogenicrs1565785959RCV000699205; NMONDO:MONDO:0008931,MedGen:C1859309,OMIM:212780, Orphanet:3258; MONDO:MONDO:0013679,MedGen:C3280402,OMIM:614305, Orphanet:3152; MONDO:MONDO:0014578,MedGen:C4225377,OMIM:616304, Orphanet:590114690081546900815CA11:g.46900815C>A-C4225377 616304 Myasthenic syndrome, congenital, 17;
NM_002334.4(LRP4):c.2837C>G (p.Pro946Arg)4038LRP4Uncertain significance-1RCV001243118; NMONDO:MONDO:0013679,MedGen:C3280402,OMIM:614305, Orphanet:3152; MONDO:MONDO:0008931,MedGen:C1859309,OMIM:212780, Orphanet:3258; MONDO:MONDO:0014578,MedGen:C4225377,OMIM:616304, Orphanet:590114690084446900844GC11:g.46900844G>C-
NM_002334.4(LRP4):c.2815-6T>G4038LRP4Conflicting interpretations of pathogenicityrs372210790RCV000376467|RCV001088893; NMedGen:CN517202|MONDO:MONDO:0013679,MedGen:C3280402,OMIM:614305, Orphanet:3152; MONDO:MONDO:0008931,MedGen:C1859309,OMIM:212780, Orphanet:3258; MONDO:MONDO:0014578,MedGen:C4225377,OMIM:616304, Orphanet:590114690087246900872AC11:g.46900872A>CClinGen:CA5969770CN169374 not specified;
NM_002334.4(LRP4):c.2814+10G>A4038LRP4Uncertain significancers886048353RCV000364490; NMONDO:MONDO:0008931,MedGen:C1859309,OMIM:212780, Orphanet:3258114690324346903243CT11:g.46903243C>TClinGen:CA10630985
NM_002334.4(LRP4):c.2770A>G (p.Met924Val)4038LRP4Uncertain significance-1RCV001056837; NMONDO:MONDO:0013679,MedGen:C3280402,OMIM:614305, Orphanet:3152; MONDO:MONDO:0008931,MedGen:C1859309,OMIM:212780, Orphanet:3258; MONDO:MONDO:0014578,MedGen:C4225377,OMIM:616304, Orphanet:590114690329746903297TC11:g.46903297T>C-
NM_002334.4(LRP4):c.2746C>T (p.Arg916Cys)4038LRP4Uncertain significancers147259655RCV000643981; NMONDO:MONDO:0013679,MedGen:C3280402,OMIM:614305, Orphanet:3152; MONDO:MONDO:0014578,MedGen:C4225377,OMIM:616304, Orphanet:590; MONDO:MONDO:0008931,MedGen:C1859309,OMIM:212780, Orphanet:3258114690332146903321GA11:g.46903321G>AClinGen:CA5969812
NM_002334.4(LRP4):c.2738G>A (p.Gly913Glu)4038LRP4Uncertain significancers376848284RCV000706686; NMONDO:MONDO:0014578,MedGen:C4225377,OMIM:616304, Orphanet:590; MONDO:MONDO:0008931,MedGen:C1859309,OMIM:212780, Orphanet:3258; MONDO:MONDO:0013679,MedGen:C3280402,OMIM:614305, Orphanet:3152114690332946903329CT11:g.46903329C>T-C4225377 616304 Myasthenic syndrome, congenital, 17;
NM_002334.4(LRP4):c.2639C>T (p.Ala880Val)4038LRP4Uncertain significancers373683358RCV000272387; NMONDO:MONDO:0008931,MedGen:C1859309,OMIM:212780, Orphanet:3258114690342846903428GA11:g.46903428G>AClinGen:CA5969831
NM_002334.4(LRP4):c.2626A>C (p.Thr876Pro)4038LRP4Uncertain significancers1592529316RCV000792223; NMONDO:MONDO:0008931,MedGen:C1859309,OMIM:212780, Orphanet:3258; MONDO:MONDO:0014578,MedGen:C4225377,OMIM:616304, Orphanet:590; MONDO:MONDO:0013679,MedGen:C3280402,OMIM:614305, Orphanet:3152114690344146903441TG11:g.46903441T>G-
NM_002334.4(LRP4):c.2609G>A (p.Gly870Asp)4038LRP4Uncertain significance-1RCV001104447; NMONDO:MONDO:0008931,MedGen:C1859309,OMIM:212780, Orphanet:3258114690542546905425CT11:g.46905425C>T-
NM_002334.4(LRP4):c.2570A>C (p.Asn857Thr)4038LRP4Uncertain significancers754708237RCV000325056; NMONDO:MONDO:0008931,MedGen:C1859309,OMIM:212780, Orphanet:3258114690546446905464TG11:g.46905464T>GClinGen:CA5969856
NM_002334.4(LRP4):c.2535A>C (p.Thr845=)4038LRP4Conflicting interpretations of pathogenicityrs145557677RCV000874652|RCV001104448; NMONDO:MONDO:0008931,MedGen:C1859309,OMIM:212780, Orphanet:3258; MONDO:MONDO:0014578,MedGen:C4225377,OMIM:616304, Orphanet:590; MONDO:MONDO:0013679,MedGen:C3280402,OMIM:614305, Orphanet:3152|MONDO:MONDO:0008931,MedGen:C1859309,OMIM:212780, Orphanet:3258114690549946905499TG11:g.46905499T>G-
NM_002334.4(LRP4):c.2482A>G (p.Asn828Asp)4038LRP4Uncertain significance-1RCV001104449; NMONDO:MONDO:0008931,MedGen:C1859309,OMIM:212780, Orphanet:3258114690766646907666TC11:g.46907666T>C-
NM_002334.4(LRP4):c.2476G>A (p.Val826Ile)4038LRP4Uncertain significance-1RCV001216948; NMONDO:MONDO:0008931,MedGen:C1859309,OMIM:212780, Orphanet:3258; MONDO:MONDO:0013679,MedGen:C3280402,OMIM:614305, Orphanet:3152; MONDO:MONDO:0014578,MedGen:C4225377,OMIM:616304, Orphanet:590114690767246907672CT11:g.46907672C>T-
NM_002334.4(LRP4):c.2436T>C (p.Asp812=)4038LRP4Likely benignrs201159730RCV000960756; NMONDO:MONDO:0014578,MedGen:C4225377,OMIM:616304, Orphanet:590; MONDO:MONDO:0008931,MedGen:C1859309,OMIM:212780, Orphanet:3258; MONDO:MONDO:0013679,MedGen:C3280402,OMIM:614305, Orphanet:3152114690771246907712AG11:g.46907712A>G-
NM_002334.4(LRP4):c.2420A>C (p.Gln807Pro)4038LRP4Uncertain significance-1RCV001104450; NMONDO:MONDO:0008931,MedGen:C1859309,OMIM:212780, Orphanet:3258114690788046907880TG11:g.46907880T>G-
NM_002334.4(LRP4):c.2387C>A (p.Thr796Asn)4038LRP4Uncertain significancers753109967RCV000688201; NMONDO:MONDO:0008931,MedGen:C1859309,OMIM:212780, Orphanet:3258; MONDO:MONDO:0013679,MedGen:C3280402,OMIM:614305, Orphanet:3152; MONDO:MONDO:0014578,MedGen:C4225377,OMIM:616304, Orphanet:590114690791346907913GT11:g.46907913G>T-C4225377 616304 Myasthenic syndrome, congenital, 17;
NM_002334.4(LRP4):c.2374G>A (p.Val792Ile)4038LRP4Uncertain significance-1RCV001104451; NMONDO:MONDO:0008931,MedGen:C1859309,OMIM:212780, Orphanet:3258114690792646907926CT11:g.46907926C>T-
NM_002334.4(LRP4):c.2325T>G (p.Ala775=)4038LRP4Uncertain significancers886048354RCV000382105; NMONDO:MONDO:0008931,MedGen:C1859309,OMIM:212780, Orphanet:3258114690797546907975AC11:g.46907975A>CClinGen:CA10630986
NM_002334.4(LRP4):c.2318G>A (p.Arg773His)4038LRP4Uncertain significancers374890595RCV000275970|RCV001070370; NMONDO:MONDO:0008931,MedGen:C1859309,OMIM:212780, Orphanet:3258|MONDO:MONDO:0008931,MedGen:C1859309,OMIM:212780, Orphanet:3258; MONDO:MONDO:0013679,MedGen:C3280402,OMIM:614305, Orphanet:3152; MONDO:MONDO:0014578,MedGen:C4225377,OMIM:616304, Orphanet:590114690798246907982CT11:g.46907982C>TClinGen:CA5969930
NM_002334.4(LRP4):c.2317C>T (p.Arg773Cys)4038LRP4Uncertain significance-1RCV001107204; NMONDO:MONDO:0008931,MedGen:C1859309,OMIM:212780, Orphanet:3258114690798346907983GA11:g.46907983G>A-
NM_002334.4(LRP4):c.2243G>A (p.Arg748Gln)4038LRP4Uncertain significance-1RCV001231596; NMONDO:MONDO:0013679,MedGen:C3280402,OMIM:614305, Orphanet:3152; MONDO:MONDO:0008931,MedGen:C1859309,OMIM:212780, Orphanet:3258; MONDO:MONDO:0014578,MedGen:C4225377,OMIM:616304, Orphanet:590114690805746908057CT11:g.46908057C>T-
NM_002334.4(LRP4):c.2151C>T (p.Gly717=)4038LRP4Benignrs114920029RCV000553283; NMONDO:MONDO:0014578,MedGen:C4225377,OMIM:616304, Orphanet:590; MONDO:MONDO:0013679,MedGen:C3280402,OMIM:614305, Orphanet:3152; MONDO:MONDO:0008931,MedGen:C1859309,OMIM:212780, Orphanet:3258114691102646911026GA11:g.46911026G>AClinGen:CA5969972C4225377 616304 Myasthenic syndrome, congenital, 17;
NM_002334.4(LRP4):c.2130G>A (p.Thr710=)4038LRP4Likely benignrs199674492RCV000542505; NMONDO:MONDO:0014578,MedGen:C4225377,OMIM:616304, Orphanet:590; MONDO:MONDO:0013679,MedGen:C3280402,OMIM:614305, Orphanet:3152; MONDO:MONDO:0008931,MedGen:C1859309,OMIM:212780, Orphanet:3258114691104746911047CT11:g.46911047C>TClinGen:CA5969974C4225377 616304 Myasthenic syndrome, congenital, 17;
NM_002334.4(LRP4):c.2119G>A (p.Gly707Arg)4038LRP4Uncertain significancers1382055371RCV000698552; NMONDO:MONDO:0014578,MedGen:C4225377,OMIM:616304, Orphanet:590; MONDO:MONDO:0008931,MedGen:C1859309,OMIM:212780, Orphanet:3258; MONDO:MONDO:0013679,MedGen:C3280402,OMIM:614305, Orphanet:3152114691105846911058CT11:g.46911058C>T-C4225377 616304 Myasthenic syndrome, congenital, 17;
NM_002334.4(LRP4):c.2112C>T (p.Asp704=)4038LRP4Uncertain significance-1RCV001107205; NMONDO:MONDO:0008931,MedGen:C1859309,OMIM:212780, Orphanet:3258114691106546911065GA11:g.46911065G>A-
NM_002334.4(LRP4):c.2081G>A (p.Arg694His)4038LRP4Uncertain significance-1RCV001215190; NMONDO:MONDO:0008931,MedGen:C1859309,OMIM:212780, Orphanet:3258; MONDO:MONDO:0013679,MedGen:C3280402,OMIM:614305, Orphanet:3152; MONDO:MONDO:0014578,MedGen:C4225377,OMIM:616304, Orphanet:590114691150646911506CT11:g.46911506C>T-
NM_002334.4(LRP4):c.2009C>T (p.Thr670Met)4038LRP4Uncertain significancers752512047RCV000817374; NMONDO:MONDO:0013679,MedGen:C3280402,OMIM:614305, Orphanet:3152; MONDO:MONDO:0008931,MedGen:C1859309,OMIM:212780, Orphanet:3258; MONDO:MONDO:0014578,MedGen:C4225377,OMIM:616304, Orphanet:590114691157846911578GA11:g.46911578G>A-
NM_002334.4(LRP4):c.1922C>T (p.Pro641Leu)4038LRP4Uncertain significancers886048355RCV000333383; NMONDO:MONDO:0008931,MedGen:C1859309,OMIM:212780, Orphanet:3258114691166546911665GA11:g.46911665G>AClinGen:CA10639243
NM_002334.4(LRP4):c.1915+6C>T4038LRP4Likely benignrs184555624RCV000174731|RCV000643993; NMedGen:CN169374|MONDO:MONDO:0013679,MedGen:C3280402,OMIM:614305, Orphanet:3152; MONDO:MONDO:0014578,MedGen:C4225377,OMIM:616304, Orphanet:590; MONDO:MONDO:0008931,MedGen:C1859309,OMIM:212780, Orphanet:3258114691182246911822GA11:g.46911822G>AClinGen:CA201150C4225377 616304 Myasthenic syndrome, congenital, 17;
NM_002334.4(LRP4):c.1894C>T (p.Arg632Cys)4038LRP4Likely pathogenic-1RCV001262713; NMONDO:MONDO:0008931,MedGen:C1859309,OMIM:212780, Orphanet:3258114691184946911849GA11:g.46911849G>A-
NM_002334.4(LRP4):c.1832G>A (p.Arg611His)4038LRP4Uncertain significancers140282454RCV000805734; NMONDO:MONDO:0013679,MedGen:C3280402,OMIM:614305, Orphanet:3152; MONDO:MONDO:0008931,MedGen:C1859309,OMIM:212780, Orphanet:3258; MONDO:MONDO:0014578,MedGen:C4225377,OMIM:616304, Orphanet:590114691191146911911CT11:g.46911911C>T-
NM_002334.4(LRP4):c.1829G>A (p.Arg610His)4038LRP4Uncertain significance-1RCV001069806; NMONDO:MONDO:0013679,MedGen:C3280402,OMIM:614305, Orphanet:3152; MONDO:MONDO:0008931,MedGen:C1859309,OMIM:212780, Orphanet:3258; MONDO:MONDO:0014578,MedGen:C4225377,OMIM:616304, Orphanet:590114691191446911914CT11:g.46911914C>T-
NM_002334.4(LRP4):c.1828C>T (p.Arg610Cys)4038LRP4Benignrs150253578RCV000527762; NMONDO:MONDO:0014578,MedGen:C4225377,OMIM:616304, Orphanet:590; MONDO:MONDO:0013679,MedGen:C3280402,OMIM:614305, Orphanet:3152; MONDO:MONDO:0008931,MedGen:C1859309,OMIM:212780, Orphanet:3258114691191546911915GA11:g.46911915G>AClinGen:CA5970038C4225377 616304 Myasthenic syndrome, congenital, 17;
NM_002334.4(LRP4):c.1787A>G (p.His596Arg)4038LRP4Conflicting interpretations of pathogenicityrs138878258RCV000306777|RCV000549519|RCV001107206; NMedGen:CN169374|MONDO:MONDO:0013679,MedGen:C3280402,OMIM:614305, Orphanet:3152; MONDO:MONDO:0008931,MedGen:C1859309,OMIM:212780, Orphanet:3258; MONDO:MONDO:0014578,MedGen:C4225377,OMIM:616304, Orphanet:590|MONDO:MONDO:0008931,MedGen:C1859309,OMIM:212780,Orph114691195646911956TC11:g.46911956T>CClinGen:CA5970052C4225377 616304 Myasthenic syndrome, congenital, 17;
NM_002334.4(LRP4):c.1769G>A (p.Arg590His)4038LRP4Uncertain significancers149435615RCV000385597|RCV000699181; NMONDO:MONDO:0008931,MedGen:C1859309,OMIM:212780, Orphanet:3258|MONDO:MONDO:0013679,MedGen:C3280402,OMIM:614305, Orphanet:3152; MONDO:MONDO:0014578,MedGen:C4225377,OMIM:616304, Orphanet:590; MONDO:MONDO:0008931,MedGen:C1859309,OMIM:212780, Orphanet:3258114691197446911974CT11:g.46911974C>TClinGen:CA5970060
NM_002334.4(LRP4):c.1698-9_1698-5del4038LRP4Uncertain significance-1RCV001229935; NMONDO:MONDO:0013679,MedGen:C3280402,OMIM:614305, Orphanet:3152; MONDO:MONDO:0008931,MedGen:C1859309,OMIM:212780, Orphanet:3258; MONDO:MONDO:0014578,MedGen:C4225377,OMIM:616304, Orphanet:590114691205046912054GGAAGAG11:g.46912050_46912054del-
NM_002334.4(LRP4):c.1695G>A (p.Glu565=)4038LRP4Benign/Likely benignrs61741501RCV000295279|RCV000539300; NMONDO:MONDO:0008931,MedGen:C1859309,OMIM:212780, Orphanet:3258|MONDO:MONDO:0008931,MedGen:C1859309,OMIM:212780, Orphanet:3258; MONDO:MONDO:0013679,MedGen:C3280402,OMIM:614305, Orphanet:3152; MONDO:MONDO:0014578,MedGen:C4225377,OMIM:616304, Orphanet:590114691452646914526CT11:g.46914526C>TClinGen:CA5970090
NM_002334.4(LRP4):c.1638A>G (p.Lys546=)4038LRP4Benignrs10838631RCV000336162; NMONDO:MONDO:0008931,MedGen:C1859309,OMIM:212780, Orphanet:3258114691458346914583TC11:g.46914583T>CClinGen:CA5970098
NM_002334.4(LRP4):c.1623T>C (p.Asp541=)4038LRP4Benignrs10769215RCV000372135; NMONDO:MONDO:0008931,MedGen:C1859309,OMIM:212780, Orphanet:3258114691459846914598AG11:g.46914598A>GClinGen:CA5970100
NM_002334.4(LRP4):c.1608G>A (p.Glu536=)4038LRP4Uncertain significance-1RCV001107847; NMONDO:MONDO:0008931,MedGen:C1859309,OMIM:212780, Orphanet:3258114691461346914613CT11:g.46914613C>T-
NM_002334.4(LRP4):c.1585G>A (p.Asp529Asn)4038LRP4Pathogenicrs267607220RCV000006040; NMONDO:MONDO:0008931,MedGen:C1859309,OMIM:212780, Orphanet:3258114691463646914636CT11:g.46914636C>TUniProtKB:O75096#VAR_063781,OMIM:604270.0001,ClinGen:CA117684C1859309 212780 Syndactyly Cenani Lenz type;
NM_002334.4(LRP4):c.1584C>T (p.Thr528=)4038LRP4Likely benignrs574108233RCV000874509; NMONDO:MONDO:0008931,MedGen:C1859309,OMIM:212780, Orphanet:3258; MONDO:MONDO:0014578,MedGen:C4225377,OMIM:616304, Orphanet:590; MONDO:MONDO:0013679,MedGen:C3280402,OMIM:614305, Orphanet:3152114691463746914637GA11:g.46914637G>A-
NM_002334.4(LRP4):c.1551T>C (p.Ala517=)4038LRP4Conflicting interpretations of pathogenicityrs150777198RCV000174518|RCV000528569|RCV001083066|RCV001107848; NMedGen:CN169374|MedGen:CN517202|MONDO:MONDO:0013679,MedGen:C3280402,OMIM:614305, Orphanet:3152; MONDO:MONDO:0014578,MedGen:C4225377,OMIM:616304, Orphanet:590; MONDO:MONDO:0008931,MedGen:C1859309,OMIM:212780, Orphanet:3258|MONDO:MONDO:0008931,MedGen:C1859309,114691467046914670AG11:g.46914670A>GClinGen:CA201027C4225377 616304 Myasthenic syndrome, congenital, 17;
NM_002334.4(LRP4):c.1510G>A (p.Glu504Lys)4038LRP4Uncertain significancers760105990RCV000809909; NMONDO:MONDO:0013679,MedGen:C3280402,OMIM:614305, Orphanet:3152; MONDO:MONDO:0014578,MedGen:C4225377,OMIM:616304, Orphanet:590; MONDO:MONDO:0008931,MedGen:C1859309,OMIM:212780, Orphanet:3258114691617046916170CT11:g.46916170C>T-
NM_002334.4(LRP4):c.1501A>C (p.Asn501His)4038LRP4Benign/Likely benignrs72897663RCV000282284|RCV000550279; NMONDO:MONDO:0008931,MedGen:C1859309,OMIM:212780, Orphanet:3258|MONDO:MONDO:0008931,MedGen:C1859309,OMIM:212780, Orphanet:3258; MONDO:MONDO:0013679,MedGen:C3280402,OMIM:614305, Orphanet:3152; MONDO:MONDO:0014578,MedGen:C4225377,OMIM:616304, Orphanet:590114691617946916179TG11:g.46916179T>GClinGen:CA5970133
NM_002334.4(LRP4):c.1494C>T (p.Asn498=)4038LRP4Benignrs61749083RCV000358736|RCV000535537|RCV001107849; NMedGen:CN169374|MONDO:MONDO:0013679,MedGen:C3280402,OMIM:614305, Orphanet:3152; MONDO:MONDO:0008931,MedGen:C1859309,OMIM:212780, Orphanet:3258; MONDO:MONDO:0014578,MedGen:C4225377,OMIM:616304, Orphanet:590|MONDO:MONDO:0008931,MedGen:C1859309,OMIM:212780,Orph114691618646916186GA11:g.46916186G>AClinGen:CA5970137C4225377 616304 Myasthenic syndrome, congenital, 17;
NM_002334.4(LRP4):c.1492A>C (p.Asn498His)4038LRP4Uncertain significance-1RCV001107850; NMONDO:MONDO:0008931,MedGen:C1859309,OMIM:212780, Orphanet:3258114691618846916188TG11:g.46916188T>G-
NM_002334.4(LRP4):c.1491C>T (p.Leu497=)4038LRP4Conflicting interpretations of pathogenicityrs146501212RCV000951661|RCV001107851; NMONDO:MONDO:0013679,MedGen:C3280402,OMIM:614305, Orphanet:3152; MONDO:MONDO:0014578,MedGen:C4225377,OMIM:616304, Orphanet:590; MONDO:MONDO:0008931,MedGen:C1859309,OMIM:212780, Orphanet:3258|MONDO:MONDO:0008931,MedGen:C1859309,OMIM:212780, Orphanet:3258114691618946916189GA11:g.46916189G>A-
NM_002334.4(LRP4):c.1480C>T (p.Arg494Cys)4038LRP4Uncertain significancers749530671RCV000337204; NMONDO:MONDO:0008931,MedGen:C1859309,OMIM:212780, Orphanet:3258114691620046916200GA11:g.46916200G>AClinGen:CA5970144
NM_002334.4(LRP4):c.1438G>C (p.Glu480Gln)4038LRP4Uncertain significance-1RCV001220488; NMONDO:MONDO:0008931,MedGen:C1859309,OMIM:212780, Orphanet:3258; MONDO:MONDO:0014578,MedGen:C4225377,OMIM:616304, Orphanet:590; MONDO:MONDO:0013679,MedGen:C3280402,OMIM:614305, Orphanet:3152114691624246916242CG11:g.46916242C>G-
NM_002334.4(LRP4):c.1435C>T (p.Arg479Cys)4038LRP4Uncertain significancers143207358RCV000395910|RCV000643982; NMONDO:MONDO:0008931,MedGen:C1859309,OMIM:212780, Orphanet:3258|MONDO:MONDO:0014578,MedGen:C4225377,OMIM:616304, Orphanet:590; MONDO:MONDO:0008931,MedGen:C1859309,OMIM:212780, Orphanet:3258; MONDO:MONDO:0013679,MedGen:C3280402,OMIM:614305, Orphanet:3152114691624546916245GA11:g.46916245G>AClinGen:CA5970152
NM_002334.4(LRP4):c.1433G>A (p.Arg478His)4038LRP4Uncertain significance-1RCV001036858; NMONDO:MONDO:0013679,MedGen:C3280402,OMIM:614305, Orphanet:3152; MONDO:MONDO:0008931,MedGen:C1859309,OMIM:212780, Orphanet:3258; MONDO:MONDO:0014578,MedGen:C4225377,OMIM:616304, Orphanet:590114691624746916247CT11:g.46916247C>T-
NM_002334.4(LRP4):c.1381A>C (p.Thr461Pro)4038LRP4Pathogenicrs267607223RCV000006046; NMONDO:MONDO:0008931,MedGen:C1859309,OMIM:212780, Orphanet:3258114691629946916299TG11:g.46916299T>GClinGen:CA117688,UniProtKB:O75096#VAR_063779,OMIM:604270.0006C1859309 212780 Syndactyly Cenani Lenz type;
NM_002334.4(LRP4):c.1369C>T (p.Arg457Cys)4038LRP4Uncertain significancers148856658RCV000812402; NMONDO:MONDO:0008931,MedGen:C1859309,OMIM:212780, Orphanet:3258; MONDO:MONDO:0013679,MedGen:C3280402,OMIM:614305, Orphanet:3152; MONDO:MONDO:0014578,MedGen:C4225377,OMIM:616304, Orphanet:590114691631146916311GA11:g.46916311G>A-
NM_002334.4(LRP4):c.1366C>T (p.His456Tyr)4038LRP4Uncertain significancers1555174047RCV000643974; NMONDO:MONDO:0008931,MedGen:C1859309,OMIM:212780, Orphanet:3258; MONDO:MONDO:0013679,MedGen:C3280402,OMIM:614305, Orphanet:3152; MONDO:MONDO:0014578,MedGen:C4225377,OMIM:616304, Orphanet:590114691631446916314GA11:g.46916314G>AClinGen:CA380285891
NM_002334.4(LRP4):c.1365A>G (p.Pro455=)4038LRP4Benignrs143481229RCV000877100|RCV001102611; NMONDO:MONDO:0014578,MedGen:C4225377,OMIM:616304, Orphanet:590; MONDO:MONDO:0008931,MedGen:C1859309,OMIM:212780, Orphanet:3258; MONDO:MONDO:0013679,MedGen:C3280402,OMIM:614305, Orphanet:3152|MONDO:MONDO:0008931,MedGen:C1859309,OMIM:212780, Orphanet:3258114691631546916315TC11:g.46916315T>C-
NM_002334.4(LRP4):c.1345G>A (p.Asp449Asn)4038LRP4Pathogenicrs267607224RCV000006045; NMONDO:MONDO:0008931,MedGen:C1859309,OMIM:212780, Orphanet:3258114691633546916335CT11:g.46916335C>TClinGen:CA117687,UniProtKB:O75096#VAR_063778,OMIM:604270.0005C1859309 212780 Syndactyly Cenani Lenz type;
NM_002334.4(LRP4):c.1310-7T>A4038LRP4Likely benignrs1555174059RCV000551074; NMONDO:MONDO:0014578,MedGen:C4225377,OMIM:616304, Orphanet:590; MONDO:MONDO:0013679,MedGen:C3280402,OMIM:614305, Orphanet:3152; MONDO:MONDO:0008931,MedGen:C1859309,OMIM:212780, Orphanet:3258114691637746916377AT11:g.46916377A>TClinGen:CA658658052C4225377 616304 Myasthenic syndrome, congenital, 17;
NM_002334.4(LRP4):c.1310-9G>C4038LRP4Likely benignrs200509094RCV000871152; NMONDO:MONDO:0014578,MedGen:C4225377,OMIM:616304, Orphanet:590; MONDO:MONDO:0013679,MedGen:C3280402,OMIM:614305, Orphanet:3152; MONDO:MONDO:0008931,MedGen:C1859309,OMIM:212780, Orphanet:3258114691637946916379CG11:g.46916379C>G-
NM_002334.4(LRP4):c.1308G>A (p.Leu436=)4038LRP4Uncertain significance-1RCV001208118; NMONDO:MONDO:0008931,MedGen:C1859309,OMIM:212780, Orphanet:3258; MONDO:MONDO:0014578,MedGen:C4225377,OMIM:616304, Orphanet:590; MONDO:MONDO:0013679,MedGen:C3280402,OMIM:614305, Orphanet:3152114691671846916718CT11:g.46916718C>T-
NM_002334.4(LRP4):c.1284C>T (p.Pro428=)4038LRP4Conflicting interpretations of pathogenicityrs374136996RCV000302037|RCV000876160; NMONDO:MONDO:0008931,MedGen:C1859309,OMIM:212780, Orphanet:3258|MONDO:MONDO:0008931,MedGen:C1859309,OMIM:212780, Orphanet:3258; MONDO:MONDO:0013679,MedGen:C3280402,OMIM:614305, Orphanet:3152; MONDO:MONDO:0014578,MedGen:C4225377,OMIM:616304, Orphanet:590114691674246916742GA11:g.46916742G>AClinGen:CA5970206
NM_002334.4(LRP4):c.1255T>G (p.Trp419Gly)4038LRP4Uncertain significancers1032020389RCV000643980; NMONDO:MONDO:0008931,MedGen:C1859309,OMIM:212780, Orphanet:3258; MONDO:MONDO:0013679,MedGen:C3280402,OMIM:614305, Orphanet:3152; MONDO:MONDO:0014578,MedGen:C4225377,OMIM:616304, Orphanet:590114691677146916771AC11:g.46916771A>CClinGen:CA221648153
NM_002334.4(LRP4):c.1194A>G (p.Glu398=)4038LRP4Conflicting interpretations of pathogenicityrs138589242RCV000593875|RCV001088697; NMedGen:CN517202|MONDO:MONDO:0013679,MedGen:C3280402,OMIM:614305, Orphanet:3152; MONDO:MONDO:0008931,MedGen:C1859309,OMIM:212780, Orphanet:3258; MONDO:MONDO:0014578,MedGen:C4225377,OMIM:616304, Orphanet:590114691683246916832TC11:g.46916832T>CClinGen:CA5970220CN169374 not specified;
NM_002334.4(LRP4):c.1191T>C (p.Asn397=)4038LRP4Benignrs73458078RCV000557951; NMONDO:MONDO:0014578,MedGen:C4225377,OMIM:616304, Orphanet:590; MONDO:MONDO:0013679,MedGen:C3280402,OMIM:614305, Orphanet:3152; MONDO:MONDO:0008931,MedGen:C1859309,OMIM:212780, Orphanet:3258114691683546916835AG11:g.46916835A>GClinGen:CA5970221C4225377 616304 Myasthenic syndrome, congenital, 17;
NM_002334.4(LRP4):c.1175C>T (p.Thr392Met)4038LRP4Uncertain significancers776484311RCV000706081; NMONDO:MONDO:0014578,MedGen:C4225377,OMIM:616304, Orphanet:590; MONDO:MONDO:0008931,MedGen:C1859309,OMIM:212780, Orphanet:3258; MONDO:MONDO:0013679,MedGen:C3280402,OMIM:614305, Orphanet:3152114691744346917443GA11:g.46917443G>A-C4225377 616304 Myasthenic syndrome, congenital, 17;
NM_002334.4(LRP4):c.1154G>A (p.Arg385Gln)4038LRP4Uncertain significance-1RCV001051326; NMONDO:MONDO:0013679,MedGen:C3280402,OMIM:614305, Orphanet:3152; MONDO:MONDO:0008931,MedGen:C1859309,OMIM:212780, Orphanet:3258; MONDO:MONDO:0014578,MedGen:C4225377,OMIM:616304, Orphanet:590114691746446917464CT11:g.46917464C>T-
NM_002334.4(LRP4):c.1153C>T (p.Arg385Trp)4038LRP4Uncertain significance-1RCV001061447; NMONDO:MONDO:0013679,MedGen:C3280402,OMIM:614305, Orphanet:3152; MONDO:MONDO:0008931,MedGen:C1859309,OMIM:212780, Orphanet:3258; MONDO:MONDO:0014578,MedGen:C4225377,OMIM:616304, Orphanet:590114691746546917465GA11:g.46917465G>A-
NM_002334.4(LRP4):c.1130A>G (p.Gln377Arg)4038LRP4Uncertain significancers139006210RCV000643978|RCV001102612; NMONDO:MONDO:0008931,MedGen:C1859309,OMIM:212780, Orphanet:3258; MONDO:MONDO:0013679,MedGen:C3280402,OMIM:614305, Orphanet:3152; MONDO:MONDO:0014578,MedGen:C4225377,OMIM:616304, Orphanet:590|MONDO:MONDO:0008931,MedGen:C1859309,OMIM:212780, Orphanet:3258114691748846917488TC11:g.46917488T>CClinGen:CA5970257
NM_002334.4(LRP4):c.1126G>A (p.Val376Met)4038LRP4Uncertain significancers1243051904RCV000543335; NMONDO:MONDO:0013679,MedGen:C3280402,OMIM:614305, Orphanet:3152; MONDO:MONDO:0014578,MedGen:C4225377,OMIM:616304, Orphanet:590; MONDO:MONDO:0008931,MedGen:C1859309,OMIM:212780, Orphanet:3258114691749246917492CT11:g.46917492C>TClinGen:CA380287236C4225377 616304 Myasthenic syndrome, congenital, 17;
NM_002334.4(LRP4):c.1117C>T (p.Arg373Trp)4038LRP4Benign/Likely benignrs118009068RCV000342868|RCV000532575; NMONDO:MONDO:0008931,MedGen:C1859309,OMIM:212780, Orphanet:3258|MONDO:MONDO:0008931,MedGen:C1859309,OMIM:212780, Orphanet:3258; MONDO:MONDO:0013679,MedGen:C3280402,OMIM:614305, Orphanet:3152; MONDO:MONDO:0014578,MedGen:C4225377,OMIM:616304, Orphanet:590114691750146917501GA11:g.46917501G>AClinGen:CA5970261
NM_002334.4(LRP4):c.1097C>T (p.Ala366Val)4038LRP4Uncertain significance-1RCV001036057; NMONDO:MONDO:0013679,MedGen:C3280402,OMIM:614305, Orphanet:3152; MONDO:MONDO:0008931,MedGen:C1859309,OMIM:212780, Orphanet:3258; MONDO:MONDO:0014578,MedGen:C4225377,OMIM:616304, Orphanet:590114691752146917521GA11:g.46917521G>A-
NM_002334.4(LRP4):c.1086C>T (p.Asn362=)4038LRP4Likely benignrs556905132RCV000952373; NMONDO:MONDO:0013679,MedGen:C3280402,OMIM:614305, Orphanet:3152; MONDO:MONDO:0014578,MedGen:C4225377,OMIM:616304, Orphanet:590; MONDO:MONDO:0008931,MedGen:C1859309,OMIM:212780, Orphanet:3258114691753246917532GA11:g.46917532G>A-
NM_002334.4(LRP4):c.1059G>A (p.Thr353=)4038LRP4Likely benignrs144710408RCV000558780; NMONDO:MONDO:0014578,MedGen:C4225377,OMIM:616304, Orphanet:590; MONDO:MONDO:0013679,MedGen:C3280402,OMIM:614305, Orphanet:3152; MONDO:MONDO:0008931,MedGen:C1859309,OMIM:212780, Orphanet:3258114691755946917559CT11:g.46917559C>TClinGen:CA5970271C4225377 616304 Myasthenic syndrome, congenital, 17;
NM_002334.4(LRP4):c.1054C>T (p.Arg352Trp)4038LRP4Uncertain significance-1RCV001202911; NMONDO:MONDO:0013679,MedGen:C3280402,OMIM:614305, Orphanet:3152; MONDO:MONDO:0014578,MedGen:C4225377,OMIM:616304, Orphanet:590; MONDO:MONDO:0008931,MedGen:C1859309,OMIM:212780, Orphanet:3258114691756446917564GA11:g.46917564G>A-
NM_002334.4(LRP4):c.1048+7G>T4038LRP4Conflicting interpretations of pathogenicityrs148557097RCV000401452|RCV001084755|RCV001102613; NMedGen:CN517202|MONDO:MONDO:0014578,MedGen:C4225377,OMIM:616304, Orphanet:590; MONDO:MONDO:0008931,MedGen:C1859309,OMIM:212780, Orphanet:3258; MONDO:MONDO:0013679,MedGen:C3280402,OMIM:614305, Orphanet:3152|MONDO:MONDO:0008931,MedGen:C1859309,OMIM:212780,Orph114691775446917754CA11:g.46917754C>AClinGen:CA5970292C4225377 616304 Myasthenic syndrome, congenital, 17;
NM_002334.4(LRP4):c.1048C>T (p.Arg350Trp)4038LRP4Uncertain significancers368744612RCV000806876; NMONDO:MONDO:0014578,MedGen:C4225377,OMIM:616304, Orphanet:590; MONDO:MONDO:0008931,MedGen:C1859309,OMIM:212780, Orphanet:3258; MONDO:MONDO:0013679,MedGen:C3280402,OMIM:614305, Orphanet:3152114691776146917761GA11:g.46917761G>A-
NM_002334.4(LRP4):c.1023C>T (p.Ser341=)4038LRP4Likely benignrs200097836RCV000963566; NMONDO:MONDO:0008931,MedGen:C1859309,OMIM:212780, Orphanet:3258; MONDO:MONDO:0013679,MedGen:C3280402,OMIM:614305, Orphanet:3152; MONDO:MONDO:0014578,MedGen:C4225377,OMIM:616304, Orphanet:590114691778646917786GA11:g.46917786G>A-
NM_002334.4(LRP4):c.1005C>T (p.Asn335=)4038LRP4Benignrs141757569RCV000873886; NMONDO:MONDO:0008931,MedGen:C1859309,OMIM:212780, Orphanet:3258; MONDO:MONDO:0014578,MedGen:C4225377,OMIM:616304, Orphanet:590; MONDO:MONDO:0013679,MedGen:C3280402,OMIM:614305, Orphanet:3152114691780446917804GA11:g.46917804G>A-
NM_002334.4(LRP4):c.1001T>G (p.Val334Gly)4038LRP4Uncertain significancers767110056RCV000643979; NMONDO:MONDO:0014578,MedGen:C4225377,OMIM:616304, Orphanet:590; MONDO:MONDO:0008931,MedGen:C1859309,OMIM:212780, Orphanet:3258; MONDO:MONDO:0013679,MedGen:C3280402,OMIM:614305, Orphanet:3152114691780846917808AC11:g.46917808A>CClinGen:CA5970306
NM_002334.4(LRP4):c.997G>A (p.Gly333Arg)4038LRP4Benign/Likely benignrs61744209RCV000180583|RCV000395951|RCV000528344; NMedGen:CN169374|MONDO:MONDO:0008931,MedGen:C1859309,OMIM:212780, Orphanet:3258|MONDO:MONDO:0008931,MedGen:C1859309,OMIM:212780, Orphanet:3258; MONDO:MONDO:0014578,MedGen:C4225377,OMIM:616304, Orphanet:590; MONDO:MONDO:0013679,MedGen:C3280402,OMIM:614305,Orph114691781246917812CT11:g.46917812C>TClinGen:CA203739C4225377 616304 Myasthenic syndrome, congenital, 17;
NM_002334.4(LRP4):c.974T>C (p.Ile325Thr)4038LRP4Uncertain significancers753709386RCV000794800; NMONDO:MONDO:0008931,MedGen:C1859309,OMIM:212780, Orphanet:3258; MONDO:MONDO:0013679,MedGen:C3280402,OMIM:614305, Orphanet:3152; MONDO:MONDO:0014578,MedGen:C4225377,OMIM:616304, Orphanet:590114691783546917835AG11:g.46917835A>G-
NM_002334.4(LRP4):c.968G>A (p.Arg323His)4038LRP4Uncertain significancers745607286RCV000307983|RCV000806077; NMONDO:MONDO:0008931,MedGen:C1859309,OMIM:212780, Orphanet:3258|MONDO:MONDO:0008931,MedGen:C1859309,OMIM:212780, Orphanet:3258; MONDO:MONDO:0013679,MedGen:C3280402,OMIM:614305, Orphanet:3152; MONDO:MONDO:0014578,MedGen:C4225377,OMIM:616304, Orphanet:590114691784146917841CT11:g.46917841C>TClinGen:CA5970313
NM_002334.4(LRP4):c.963T>A (p.Asn321Lys)4038LRP4Uncertain significance-1RCV001104531; NMONDO:MONDO:0008931,MedGen:C1859309,OMIM:212780, Orphanet:3258114691784646917846AT11:g.46917846A>T-
NM_002334.4(LRP4):c.956G>A (p.Cys319Tyr)4038LRP4Uncertain significancers769749835RCV000310332|RCV001104532; NMedGen:CN517202|MONDO:MONDO:0008931,MedGen:C1859309,OMIM:212780, Orphanet:3258114691785346917853CT11:g.46917853C>TClinGen:CA5970317CN169374 not specified;
NM_002334.4(LRP4):c.941T>C (p.Leu314Ser)4038LRP4Benign/Likely benignrs7926667RCV000362404|RCV000554575; NMONDO:MONDO:0008931,MedGen:C1859309,OMIM:212780, Orphanet:3258|MONDO:MONDO:0008931,MedGen:C1859309,OMIM:212780, Orphanet:3258; MONDO:MONDO:0013679,MedGen:C3280402,OMIM:614305, Orphanet:3152; MONDO:MONDO:0014578,MedGen:C4225377,OMIM:616304, Orphanet:590114691786846917868AG11:g.46917868A>GClinGen:CA5970321,UniProtKB:O75096#VAR_058290
NM_002334.4(LRP4):c.933A>G (p.Gln311=)4038LRP4Uncertain significance-1RCV001104533; NMONDO:MONDO:0008931,MedGen:C1859309,OMIM:212780, Orphanet:3258114691787646917876TC11:g.46917876T>C-
NM_002334.4(LRP4):c.922+13G>A4038LRP4Uncertain significancers771013783RCV000272713; NMONDO:MONDO:0008931,MedGen:C1859309,OMIM:212780, Orphanet:3258114691840746918407CT11:g.46918407C>TClinGen:CA5970337
NM_002334.4(LRP4):c.894C>T (p.Asn298=)4038LRP4Likely benignrs1592542950RCV000929714; NMONDO:MONDO:0008931,MedGen:C1859309,OMIM:212780, Orphanet:3258; MONDO:MONDO:0013679,MedGen:C3280402,OMIM:614305, Orphanet:3152; MONDO:MONDO:0014578,MedGen:C4225377,OMIM:616304, Orphanet:590114691844846918448GA11:g.46918448G>A-
NM_002334.4(LRP4):c.851G>A (p.Arg284His)4038LRP4Uncertain significancers369307795RCV000694030|RCV001104534; NMONDO:MONDO:0013679,MedGen:C3280402,OMIM:614305, Orphanet:3152; MONDO:MONDO:0014578,MedGen:C4225377,OMIM:616304, Orphanet:590; MONDO:MONDO:0008931,MedGen:C1859309,OMIM:212780, Orphanet:3258|MONDO:MONDO:0008931,MedGen:C1859309,OMIM:212780, Orphanet:3258114691849146918491CT11:g.46918491C>T-C4225377 616304 Myasthenic syndrome, congenital, 17;
NM_002334.4(LRP4):c.842G>T (p.Arg281Leu)4038LRP4Uncertain significancers146670859RCV000309038; NMONDO:MONDO:0008931,MedGen:C1859309,OMIM:212780, Orphanet:3258114691850046918500CA11:g.46918500C>AClinGen:CA10639259
NM_002334.4(LRP4):c.826C>T (p.Arg276Cys)4038LRP4Uncertain significancers557300271RCV000821797|RCV001104535; NMONDO:MONDO:0013679,MedGen:C3280402,OMIM:614305, Orphanet:3152; MONDO:MONDO:0008931,MedGen:C1859309,OMIM:212780, Orphanet:3258; MONDO:MONDO:0014578,MedGen:C4225377,OMIM:616304, Orphanet:590|MONDO:MONDO:0008931,MedGen:C1859309,OMIM:212780, Orphanet:3258114691851646918516GA11:g.46918516G>A-
NM_002334.4(LRP4):c.813G>A (p.Thr271=)4038LRP4Benign/Likely benignrs879721RCV000368360|RCV000539834; NMONDO:MONDO:0008931,MedGen:C1859309,OMIM:212780, Orphanet:3258|MONDO:MONDO:0008931,MedGen:C1859309,OMIM:212780, Orphanet:3258; MONDO:MONDO:0013679,MedGen:C3280402,OMIM:614305, Orphanet:3152; MONDO:MONDO:0014578,MedGen:C4225377,OMIM:616304, Orphanet:590114691852946918529CT11:g.46918529C>TClinGen:CA5970359
NM_002334.4(LRP4):c.806T>C (p.Met269Thr)4038LRP4Uncertain significance-1RCV001214109; NMONDO:MONDO:0013679,MedGen:C3280402,OMIM:614305, Orphanet:3152; MONDO:MONDO:0014578,MedGen:C4225377,OMIM:616304, Orphanet:590; MONDO:MONDO:0008931,MedGen:C1859309,OMIM:212780, Orphanet:3258114691853646918536AG11:g.46918536A>G-
NM_002334.4(LRP4):c.801C>T (p.Thr267=)4038LRP4Uncertain significancers746028762RCV000273449; NMONDO:MONDO:0008931,MedGen:C1859309,OMIM:212780, Orphanet:3258114691854146918541GA11:g.46918541G>AClinGen:CA10635039
NM_002334.4(LRP4):c.797-3C>T4038LRP4Uncertain significance-1RCV001217067; NMONDO:MONDO:0008931,MedGen:C1859309,OMIM:212780, Orphanet:3258; MONDO:MONDO:0013679,MedGen:C3280402,OMIM:614305, Orphanet:3152; MONDO:MONDO:0014578,MedGen:C4225377,OMIM:616304, Orphanet:590114691854846918548GA11:g.46918548G>A-
NM_002334.4(LRP4):c.788G>A (p.Arg263His)4038LRP4Uncertain significancers149906323RCV000702562; NMONDO:MONDO:0014578,MedGen:C4225377,OMIM:616304, Orphanet:590; MONDO:MONDO:0013679,MedGen:C3280402,OMIM:614305, Orphanet:3152; MONDO:MONDO:0008931,MedGen:C1859309,OMIM:212780, Orphanet:3258114692011746920117CT11:g.46920117C>T-
NM_002334.4(LRP4):c.776A>G (p.Gln259Arg)4038LRP4Uncertain significance-1RCV001107292; NMONDO:MONDO:0008931,MedGen:C1859309,OMIM:212780, Orphanet:3258114692012946920129TC11:g.46920129T>C-
NM_002334.4(LRP4):c.759C>T (p.Asp253=)4038LRP4Conflicting interpretations of pathogenicityrs368640705RCV000960730|RCV001107293; NMONDO:MONDO:0014578,MedGen:C4225377,OMIM:616304, Orphanet:590; MONDO:MONDO:0008931,MedGen:C1859309,OMIM:212780, Orphanet:3258; MONDO:MONDO:0013679,MedGen:C3280402,OMIM:614305, Orphanet:3152|MONDO:MONDO:0008931,MedGen:C1859309,OMIM:212780, Orphanet:3258114692014646920146GA11:g.46920146G>A-
NM_002334.4(LRP4):c.750C>T (p.Cys250=)4038LRP4Conflicting interpretations of pathogenicityrs758493823RCV000333248|RCV000920302; NMONDO:MONDO:0008931,MedGen:C1859309,OMIM:212780, Orphanet:3258|MedGen:CN517202114692015546920155GA11:g.46920155G>AClinGen:CA5970393
NM_002334.4(LRP4):c.734A>G (p.Asn245Ser)4038LRP4Uncertain significancers781770287RCV000387619; NMONDO:MONDO:0008931,MedGen:C1859309,OMIM:212780, Orphanet:3258114692017146920171TC11:g.46920171T>CClinGen:CA5970397
NM_002334.4(LRP4):c.724C>T (p.Leu242=)4038LRP4Likely benignrs1037889784RCV000912082; NMONDO:MONDO:0013679,MedGen:C3280402,OMIM:614305, Orphanet:3152; MONDO:MONDO:0014578,MedGen:C4225377,OMIM:616304, Orphanet:590; MONDO:MONDO:0008931,MedGen:C1859309,OMIM:212780, Orphanet:3258114692018146920181GA11:g.46920181G>A-
NM_002334.4(LRP4):c.695G>A (p.Arg232His)4038LRP4Uncertain significance-1RCV001223781; NMONDO:MONDO:0013679,MedGen:C3280402,OMIM:614305, Orphanet:3152; MONDO:MONDO:0008931,MedGen:C1859309,OMIM:212780, Orphanet:3258; MONDO:MONDO:0014578,MedGen:C4225377,OMIM:616304, Orphanet:590114692021046920210CT11:g.46920210C>T-
NM_002334.4(LRP4):c.676+13G>A4038LRP4Uncertain significancers200963011RCV000260468; NMONDO:MONDO:0008931,MedGen:C1859309,OMIM:212780, Orphanet:3258114692044246920442CT11:g.46920442C>TClinGen:CA5970428
NM_002334.4(LRP4):c.676+4A>G4038LRP4Uncertain significancers759630167RCV000820204; NMONDO:MONDO:0008931,MedGen:C1859309,OMIM:212780, Orphanet:3258; MONDO:MONDO:0014578,MedGen:C4225377,OMIM:616304, Orphanet:590; MONDO:MONDO:0013679,MedGen:C3280402,OMIM:614305, Orphanet:3152114692045146920451TC11:g.46920451T>C-
NM_002334.4(LRP4):c.639C>T (p.Asp213=)4038LRP4Conflicting interpretations of pathogenicityrs144974139RCV000338344|RCV001086389|RCV001107294; NMedGen:CN517202|MONDO:MONDO:0008931,MedGen:C1859309,OMIM:212780, Orphanet:3258; MONDO:MONDO:0013679,MedGen:C3280402,OMIM:614305, Orphanet:3152; MONDO:MONDO:0014578,MedGen:C4225377,OMIM:616304, Orphanet:590|MONDO:MONDO:0008931,MedGen:C1859309,OMIM:212780,Orph114692049246920492GA11:g.46920492G>AClinGen:CA5970434C4225377 616304 Myasthenic syndrome, congenital, 17;
NM_002334.4(LRP4):c.636C>T (p.Gly212=)4038LRP4Conflicting interpretations of pathogenicityrs17848239RCV000423519|RCV001069807; NMedGen:CN169374|MONDO:MONDO:0014578,MedGen:C4225377,OMIM:616304, Orphanet:590; MONDO:MONDO:0008931,MedGen:C1859309,OMIM:212780, Orphanet:3258; MONDO:MONDO:0013679,MedGen:C3280402,OMIM:614305, Orphanet:3152114692049546920495GA11:g.46920495G>AClinGen:CA5970436CN169374 not specified;
NM_002334.4(LRP4):c.605G>A (p.Arg202His)4038LRP4Uncertain significancers149056824RCV000706837; NMONDO:MONDO:0014578,MedGen:C4225377,OMIM:616304, Orphanet:590; MONDO:MONDO:0008931,MedGen:C1859309,OMIM:212780, Orphanet:3258; MONDO:MONDO:0013679,MedGen:C3280402,OMIM:614305, Orphanet:3152114692052646920526CT11:g.46920526C>T-C4225377 616304 Myasthenic syndrome, congenital, 17;
NM_002334.4(LRP4):c.570C>T (p.Pro190=)4038LRP4Conflicting interpretations of pathogenicityrs147353838RCV000592442|RCV001079240; NMedGen:CN517202|MONDO:MONDO:0013679,MedGen:C3280402,OMIM:614305, Orphanet:3152; MONDO:MONDO:0008931,MedGen:C1859309,OMIM:212780, Orphanet:3258; MONDO:MONDO:0014578,MedGen:C4225377,OMIM:616304, Orphanet:590114692056146920561GA11:g.46920561G>AClinGen:CA5970445CN169374 not specified;
NM_002334.4(LRP4):c.563C>T (p.Ala188Val)4038LRP4Uncertain significancers772245536RCV000503043|RCV001037702; NMedGen:CN169374|MONDO:MONDO:0014578,MedGen:C4225377,OMIM:616304, Orphanet:590; MONDO:MONDO:0008931,MedGen:C1859309,OMIM:212780, Orphanet:3258; MONDO:MONDO:0013679,MedGen:C3280402,OMIM:614305, Orphanet:3152114692056846920568GA11:g.46920568G>AClinGen:CA5970448
NM_002334.4(LRP4):c.547+1G>A4038LRP4Pathogenicrs762425885RCV000006043; NMONDO:MONDO:0008931,MedGen:C1859309,OMIM:212780, Orphanet:3258114692093746920937CT11:g.46920937C>TOMIM:604270.0003
NM_002334.4(LRP4):c.541A>G (p.Asn181Asp)4038LRP4Uncertain significance-1RCV001243289; NMONDO:MONDO:0013679,MedGen:C3280402,OMIM:614305, Orphanet:3152; MONDO:MONDO:0008931,MedGen:C1859309,OMIM:212780, Orphanet:3258; MONDO:MONDO:0014578,MedGen:C4225377,OMIM:616304, Orphanet:590114692094446920944TC11:g.46920944T>C-
NM_002334.4(LRP4):c.539A>G (p.Glu180Gly)4038LRP4Uncertain significancers201957426RCV000643983|RCV001107295; NMONDO:MONDO:0008931,MedGen:C1859309,OMIM:212780, Orphanet:3258; MONDO:MONDO:0013679,MedGen:C3280402,OMIM:614305, Orphanet:3152; MONDO:MONDO:0014578,MedGen:C4225377,OMIM:616304, Orphanet:590|MONDO:MONDO:0008931,MedGen:C1859309,OMIM:212780, Orphanet:3258114692094646920946TC11:g.46920946T>CClinGen:CA5970472
NM_002334.4(LRP4):c.528C>T (p.Gly176=)4038LRP4Uncertain significancers886048356RCV000315804; NMONDO:MONDO:0008931,MedGen:C1859309,OMIM:212780, Orphanet:3258114692095746920957GA11:g.46920957G>AClinGen:CA10630991
NM_002334.4(LRP4):c.505G>A (p.Gly169Ser)4038LRP4Uncertain significancers201585639RCV000643977; NMONDO:MONDO:0008931,MedGen:C1859309,OMIM:212780, Orphanet:3258; MONDO:MONDO:0013679,MedGen:C3280402,OMIM:614305, Orphanet:3152; MONDO:MONDO:0014578,MedGen:C4225377,OMIM:616304, Orphanet:590114692098046920980CT11:g.46920980C>TClinGen:CA5970480
NM_002334.4(LRP4):c.479G>A (p.Cys160Tyr)4038LRP4Pathogenicrs267607221RCV000006044; NMONDO:MONDO:0008931,MedGen:C1859309,OMIM:212780, Orphanet:3258114692100646921006CT11:g.46921006C>TUniProtKB:O75096#VAR_063777,OMIM:604270.0004,ClinGen:CA117686C1859309 212780 Syndactyly Cenani Lenz type;
NM_002334.4(LRP4):c.446C>T (p.Ser149Phe)4038LRP4Uncertain significance-1RCV001208727; NMONDO:MONDO:0008931,MedGen:C1859309,OMIM:212780, Orphanet:3258; MONDO:MONDO:0014578,MedGen:C4225377,OMIM:616304, Orphanet:590; MONDO:MONDO:0013679,MedGen:C3280402,OMIM:614305, Orphanet:3152114692103946921039GA11:g.46921039G>A-
NM_002334.4(LRP4):c.431-3del4038LRP4Likely benignrs562071882RCV000592695|RCV000883948; NMedGen:CN169374|MONDO:MONDO:0013679,MedGen:C3280402,OMIM:614305, Orphanet:3152; MONDO:MONDO:0008931,MedGen:C1859309,OMIM:212780, Orphanet:3258; MONDO:MONDO:0014578,MedGen:C4225377,OMIM:616304, Orphanet:590114692105746921057TGT11:g.46921057_46921057delClinGen:CA5970491CN169374 not specified;
NM_002334.4(LRP4):c.431-8C>T4038LRP4Benign/Likely benignrs150531536RCV000375020|RCV000951892; NMONDO:MONDO:0008931,MedGen:C1859309,OMIM:212780, Orphanet:3258|MONDO:MONDO:0008931,MedGen:C1859309,OMIM:212780, Orphanet:3258; MONDO:MONDO:0013679,MedGen:C3280402,OMIM:614305, Orphanet:3152; MONDO:MONDO:0014578,MedGen:C4225377,OMIM:616304, Orphanet:590114692106246921062GA11:g.46921062G>AClinGen:CA5970493
NM_002334.4(LRP4):c.431-9T>A4038LRP4Uncertain significance-1RCV001211295; NMONDO:MONDO:0008931,MedGen:C1859309,OMIM:212780, Orphanet:3258; MONDO:MONDO:0013679,MedGen:C3280402,OMIM:614305, Orphanet:3152; MONDO:MONDO:0014578,MedGen:C4225377,OMIM:616304, Orphanet:590114692106346921063AT11:g.46921063A>T-
NM_002334.4(LRP4):c.431-12G>A4038LRP4Benign-1RCV001107948; NMONDO:MONDO:0008931,MedGen:C1859309,OMIM:212780, Orphanet:3258114692106646921066CT11:g.46921066C>T-
NM_002334.4(LRP4):c.426G>A (p.Gln142=)4038LRP4Likely benignrs371955690RCV000878059; NMONDO:MONDO:0014578,MedGen:C4225377,OMIM:616304, Orphanet:590; MONDO:MONDO:0008931,MedGen:C1859309,OMIM:212780, Orphanet:3258; MONDO:MONDO:0013679,MedGen:C3280402,OMIM:614305, Orphanet:3152114692141846921418CT11:g.46921418C>T-
NM_002334.4(LRP4):c.409G>A (p.Asp137Asn)4038LRP4Pathogenicrs267607222RCV000006041; NMONDO:MONDO:0008931,MedGen:C1859309,OMIM:212780, Orphanet:3258114692143546921435CT11:g.46921435C>TClinGen:CA117685,UniProtKB:O75096#VAR_063776,OMIM:604270.0002C1859309 212780 Syndactyly Cenani Lenz type;
NM_002334.4(LRP4):c.387C>T (p.Cys129=)4038LRP4Benignrs80333596RCV000875532; NMONDO:MONDO:0014578,MedGen:C4225377,OMIM:616304, Orphanet:590; MONDO:MONDO:0008931,MedGen:C1859309,OMIM:212780, Orphanet:3258; MONDO:MONDO:0013679,MedGen:C3280402,OMIM:614305, Orphanet:3152114692145746921457GA11:g.46921457G>A-
NM_002334.4(LRP4):c.378G>A (p.Leu126=)4038LRP4Conflicting interpretations of pathogenicityrs201749120RCV000643988|RCV001107949; NMedGen:CN517202|MONDO:MONDO:0008931,MedGen:C1859309,OMIM:212780, Orphanet:3258114692146646921466CT11:g.46921466C>TClinGen:CA5970520
NM_002334.4(LRP4):c.322C>T (p.Arg108Trp)4038LRP4Uncertain significance-1RCV001220056; NMONDO:MONDO:0008931,MedGen:C1859309,OMIM:212780, Orphanet:3258; MONDO:MONDO:0014578,MedGen:C4225377,OMIM:616304, Orphanet:590; MONDO:MONDO:0013679,MedGen:C3280402,OMIM:614305, Orphanet:3152114692152246921522GA11:g.46921522G>A-
NM_002334.4(LRP4):c.317C>T (p.Pro106Leu)4038LRP4Uncertain significance-1RCV001228404; NMONDO:MONDO:0013679,MedGen:C3280402,OMIM:614305, Orphanet:3152; MONDO:MONDO:0008931,MedGen:C1859309,OMIM:212780, Orphanet:3258; MONDO:MONDO:0014578,MedGen:C4225377,OMIM:616304, Orphanet:590114692152746921527GA11:g.46921527G>A-
NM_002334.4(LRP4):c.316+1G>A4038LRP4Pathogenicrs780336679RCV000578727; NMONDO:MONDO:0008931,MedGen:C1859309,OMIM:212780, Orphanet:3258114692181246921812CT11:g.46921812C>TClinGen:CA5970549C1859309 212780 Syndactyly Cenani Lenz type;
NM_002334.4(LRP4):c.300G>A (p.Ser100=)4038LRP4Benignrs61745166RCV000280603|RCV000541713; NMONDO:MONDO:0008931,MedGen:C1859309,OMIM:212780, Orphanet:3258|MONDO:MONDO:0008931,MedGen:C1859309,OMIM:212780, Orphanet:3258; MONDO:MONDO:0013679,MedGen:C3280402,OMIM:614305, Orphanet:3152; MONDO:MONDO:0014578,MedGen:C4225377,OMIM:616304, Orphanet:590114692182946921829CT11:g.46921829C>TClinGen:CA5970555
NM_002334.4(LRP4):c.299C>T (p.Ser100Leu)4038LRP4Uncertain significancers762837686RCV000531555; NMONDO:MONDO:0013679,MedGen:C3280402,OMIM:614305, Orphanet:3152; MONDO:MONDO:0014578,MedGen:C4225377,OMIM:616304, Orphanet:590; MONDO:MONDO:0008931,MedGen:C1859309,OMIM:212780, Orphanet:3258114692183046921830GA11:g.46921830G>AClinGen:CA5970556C4225377 616304 Myasthenic syndrome, congenital, 17;
NM_002334.4(LRP4):c.290A>C (p.Glu97Ala)4038LRP4Uncertain significance-1RCV001107950; NMONDO:MONDO:0008931,MedGen:C1859309,OMIM:212780, Orphanet:3258114692183946921839TG11:g.46921839T>G-
NM_002334.4(LRP4):c.282C>T (p.Asn94=)4038LRP4Conflicting interpretations of pathogenicityrs17848224RCV000340313|RCV000908407; NMONDO:MONDO:0008931,MedGen:C1859309,OMIM:212780, Orphanet:3258|MedGen:CN517202114692184746921847GA11:g.46921847G>AClinGen:CA5970558
NM_002334.4(LRP4):c.273C>T (p.Asp91=)4038LRP4Likely benignrs150401820RCV000643994; NMONDO:MONDO:0014578,MedGen:C4225377,OMIM:616304, Orphanet:590; MONDO:MONDO:0013679,MedGen:C3280402,OMIM:614305, Orphanet:3152; MONDO:MONDO:0008931,MedGen:C1859309,OMIM:212780, Orphanet:3258114692185646921856GA11:g.46921856G>AClinGen:CA5970562C4225377 616304 Myasthenic syndrome, congenital, 17;
NM_002334.4(LRP4):c.257G>A (p.Arg86His)4038LRP4Likely benignrs138239756RCV000643975; NMONDO:MONDO:0014578,MedGen:C4225377,OMIM:616304, Orphanet:590; MONDO:MONDO:0013679,MedGen:C3280402,OMIM:614305, Orphanet:3152; MONDO:MONDO:0008931,MedGen:C1859309,OMIM:212780, Orphanet:3258114692187246921872CT11:g.46921872C>TClinGen:CA5970564
NM_002334.4(LRP4):c.200-9G>A4038LRP4Pathogenicrs1565801326RCV000006047; NMONDO:MONDO:0008931,MedGen:C1859309,OMIM:212780, Orphanet:3258114692193846921938CT11:g.46921938C>TOMIM:604270.0007
NM_002334.4(LRP4):c.172G>A (p.Gly58Arg)4038LRP4Uncertain significancers139901577RCV000380362; NMONDO:MONDO:0008931,MedGen:C1859309,OMIM:212780, Orphanet:3258114692436146924361CT11:g.46924361C>TClinGen:CA10639263C1859309 212780 Syndactyly Cenani Lenz type;
NM_002334.4(LRP4):c.168C>T (p.Asp56=)4038LRP4Uncertain significance-1RCV001107951; NMONDO:MONDO:0008931,MedGen:C1859309,OMIM:212780, Orphanet:3258114692436546924365GA11:g.46924365G>A-
NM_002334.4(LRP4):c.129C>G (p.Thr43=)4038LRP4Benign/Likely benignrs61742974RCV000285927|RCV000536314; NMONDO:MONDO:0008931,MedGen:C1859309,OMIM:212780, Orphanet:3258|MONDO:MONDO:0008931,MedGen:C1859309,OMIM:212780, Orphanet:3258; MONDO:MONDO:0013679,MedGen:C3280402,OMIM:614305, Orphanet:3152; MONDO:MONDO:0014578,MedGen:C4225377,OMIM:616304, Orphanet:590114692440446924404GC11:g.46924404G>CClinGen:CA5970602C4225377 616304 Myasthenic syndrome, congenital, 17;
NM_002334.4(LRP4):c.70G>A (p.Glu24Lys)4038LRP4Uncertain significance-1RCV001211955; NMONDO:MONDO:0008931,MedGen:C1859309,OMIM:212780, Orphanet:3258; MONDO:MONDO:0013679,MedGen:C3280402,OMIM:614305, Orphanet:3152; MONDO:MONDO:0014578,MedGen:C4225377,OMIM:616304, Orphanet:590114692446346924463CT11:g.46924463C>T-
NM_002334.4(LRP4):c.65G>T (p.Ser22Ile)4038LRP4Uncertain significancers777229906RCV000824197; NMONDO:MONDO:0008931,MedGen:C1859309,OMIM:212780, Orphanet:3258; MONDO:MONDO:0013679,MedGen:C3280402,OMIM:614305, Orphanet:3152; MONDO:MONDO:0014578,MedGen:C4225377,OMIM:616304, Orphanet:590114692446846924468CA11:g.46924468C>A-
NM_002334.4(LRP4):c.51C>T (p.His17=)4038LRP4Uncertain significance-1RCV001107952; NMONDO:MONDO:0008931,MedGen:C1859309,OMIM:212780, Orphanet:3258114693988046939880GA11:g.46939880G>A-
NM_002334.4(LRP4):c.-5G>A4038LRP4Uncertain significancers886048357RCV000345510; NMONDO:MONDO:0008931,MedGen:C1859309,OMIM:212780, Orphanet:3258114693993546939935CT11:g.46939935C>TClinGen:CA10635042
NM_002334.4(LRP4):c.-75A>G4038LRP4Uncertain significance-1RCV001102717; NMONDO:MONDO:0008931,MedGen:C1859309,OMIM:212780, Orphanet:3258114694000546940005TC11:g.46940005T>C-
NM_002334.4(LRP4):c.-146G>A4038LRP4Uncertain significancers886048359RCV000291657; NMONDO:MONDO:0008931,MedGen:C1859309,OMIM:212780, Orphanet:3258114694007646940076CT11:g.46940076C>TClinGen:CA10639269
NC_000011.10:g.46918553C>T4038LRP4Uncertain significance-1RCV001102718; NMONDO:MONDO:0008931,MedGen:C1859309,OMIM:212780, Orphanet:3258114694010446940104CT11:g.46940104C>T-
NM_002334.3(LRP4):c.-188C>T4038LRP4Benignrs111383894RCV000346608; NMONDO:MONDO:0008931,MedGen:C1859309,OMIM:212780, Orphanet:3258114694011846940118GA11:g.46940118G>AClinGen:CA10639275
NM_002334.3(LRP4):c.-193C>G4038LRP4Uncertain significancers886048360RCV000395177; NMONDO:MONDO:0008931,MedGen:C1859309,OMIM:212780, Orphanet:3258114694012346940123GC11:g.46940123G>CClinGen:CA10635043
NC_000011.10:g.46918572G>T4038LRP4Uncertain significance-1RCV001102719; NMONDO:MONDO:0008931,MedGen:C1859309,OMIM:212780, Orphanet:3258114694012346940123GT11:g.46940123G>T-
NM_002334.3(LRP4):c.-237G>C4038LRP4Benignrs565737367RCV000311581; NMONDO:MONDO:0008931,MedGen:C1859309,OMIM:212780, Orphanet:3258114694016746940167CG11:g.46940167C>GClinGen:CA10639277
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