Send us a Message
Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   
Search RGD Grant Resources Citing RGD About Us Contact Us
Genes Variants Community Projects QTLs Strains Markers Genome Information Ontologies Cell Lines References Download Submit Data
OntoMate (Literature Search) JBrowse (Genome Browser) Synteny Browser (VCMap) Variant Visualizer Multi-Ontology Enrichment (MOET) Gene-Ortholog Location Finder (GOLF) InterViewer (Protein-Protein Interactions) PhenoMiner (Quatitative Phenotypes) Gene Annotator OLGA (Gene List Generator) AllianceMine GViewer (Genome Viewer)
Aging & Age-Related Disease Behavioral & Substance Use Disorder Cancer & Neoplastic Disease Cardiovascular Disease Coronavirus Disease Developmental Disease Diabetes Hematologic Disease Immune & Inflammatory Disease Infectious Disease Liver Disease Neurological Disease Obesity & Metabolic Syndrome Renal Disease Respiratory Disease Sensory Organ Disease
Find Models Genetic Models Autism Models Rat PhenoMiner (Quantitative Phenotypes) Chinchilla PhenoMiner Expected Ranges (Quantitative Phenotype) PhenoMiner Term Comparison Hybrid Rat Diversity Panel Phenotypes Phenotypes in Other Animal Models Animal Husbandry Strain Medical Records Phylogenetics Strain Availability Calendar Rats 101 Submissions Photo Archive
Pathways
Rat Community Forum Directory of Rat Laboratories Video Tutorials News RGD Publications RGD Presentations Archive Nomenclature Guidelines Resource Links Laboratory Resources Employment Resources
Advanced Search (OLGA)
Variants search result for Homo sapiens
(View Results for all Objects and Ontologies)

586 records found for search term Chrnd
Refine Term:
Assembly:
    Chr  
Sort By:
           Export CSV TAB Print

RGD IDSymbolVariant TypeNameTraitClinical SignificanceChrStartStopSpeciesAnnotationsMatch
11665532CV285922single nucleotide variantNM_000751.3(CHRND):c.*52A>GAutosomal recessive multiple pterygium syndrome [RCV000277975]|Congenital Myasthenic Syndrome, Dominant/Recessive [RCV000319987]|Congenital myasthenic syndrome [RCV001138183]|Lethal multiple pterygium syndrome [RCV001094741]|not provided [RCV001643029]benign|likely benign|conflicting interpretations of pathogenicity2232535364232535364Human3name
11585346CV285932single nucleotide variantNM_000751.3(CHRND):c.*92C>TCongenital myasthenic syndrome [RCV000335002]|Lethal multiple pterygium syndrome [RCV000280242]uncertain significance2232535404232535404Human2name
151715488CV1434825single nucleotide variantNM_000751.3(CHRND):c.52+6G>ALethal multiple pterygium syndrome [RCV001890255]uncertain significance2232526273232526273Human1name
152999083CV1679520single nucleotide variantNM_000751.3(CHRND):c.52+1G>ACongenital myasthenic syndrome 3B [RCV002250909]likely pathogenic2232526268232526268Human1name
11592653CV285265single nucleotide variantNM_000751.3(CHRND):c.*145C>GCongenital myasthenic syndrome [RCV000396977]|Lethal multiple pterygium syndrome [RCV000340725]uncertain significance2232535457232535457Human2name
11589411CV285276single nucleotide variantNM_000751.3(CHRND):c.*149A>GAutosomal recessive multiple pterygium syndrome [RCV000365240]|Congenital Myasthenic Syndrome, Dominant/Recessive [RCV000310467]|Congenital myasthenic syndrome [RCV001138184]|Lethal multiple pterygium syndrome [RCV001138185]benign|uncertain significance2232535461232535461Human3name
11584735CV285277single nucleotide variantNM_000751.3(CHRND):c.*227G>ACongenital myasthenic syndrome [RCV000370568]|Lethal multiple pterygium syndrome [RCV000275873]uncertain significance2232535539232535539Human2name
11591645CV285281single nucleotide variantNM_000751.3(CHRND):c.*379C>TCongenital myasthenic syndrome [RCV000330924]|Lethal multiple pterygium syndrome [RCV000366881]uncertain significance2232535691232535691Human2name
11665241CV285284single nucleotide variantNM_000751.3(CHRND):c.*885T>CAutosomal recessive multiple pterygium syndrome [RCV000329395]|Congenital Myasthenic Syndrome, Dominant/Recessive [RCV000261184]|Congenital myasthenic syndrome [RCV001138705]|Lethal multiple pterygium syndrome [RCV001094652]|not provided [RCV001691958]benign|likely benign|conflicting interpretations of pathogenicity2232536197232536197Human3name
11590142CV285294single nucleotide variantNM_000751.3(CHRND):c.*942C>TCongenital myasthenic syndrome [RCV000316475]|Lethal multiple pterygium syndrome [RCV000361835]uncertain significance2232536254232536254Human2name
11652714CV285940single nucleotide variantNM_000751.3(CHRND):c.*196G>ACongenital myasthenic syndrome [RCV000306524]|Lethal multiple pterygium syndrome [RCV000399961]uncertain significance2232535508232535508Human2name
11582909CV285941single nucleotide variantNM_000751.3(CHRND):c.*424C>TAutosomal recessive multiple pterygium syndrome [RCV000262869]|Congenital Myasthenic Syndrome, Dominant/Recessive [RCV000317946]|Congenital myasthenic syndrome [RCV001143028]|Lethal multiple pterygium syndrome [RCV001143027]|not provided [RCV001672574]benign|likely benign2232535736232535736Human3name
11647837CV285943single nucleotide variantNM_000751.3(CHRND):c.*449C>TCongenital myasthenic syndrome [RCV000372611]|Lethal multiple pterygium syndrome [RCV000278511]uncertain significance2232535761232535761Human2name
11665735CV285949single nucleotide variantNM_000751.3(CHRND):c.*547G>CAutosomal recessive multiple pterygium syndrome [RCV000290760]|Congenital Myasthenic Syndrome, Dominant/Recessive [RCV000378903]|Congenital myasthenic syndrome [RCV001138285]|Lethal multiple pterygium syndrome [RCV001094645]|not provided [RCV001653621]benign|likely benign2232535859232535859Human3name
11589873CV285950single nucleotide variantNM_000751.3(CHRND):c.*641C>TCongenital myasthenic syndrome [RCV000313958]|Lethal multiple pterygium syndrome [RCV000368506]uncertain significance2232535953232535953Human2name
11593120CV288262single nucleotide variantNM_000751.3(CHRND):c.*635C>TCongenital myasthenic syndrome [RCV000395197]|Lethal multiple pterygium syndrome [RCV000345206]uncertain significance2232535947232535947Human2name
11585983CV288681single nucleotide variantNM_000751.3(CHRND):c.*580C>TCongenital myasthenic syndrome [RCV000339235]|Lethal multiple pterygium syndrome [RCV000284461]uncertain significance2232535892232535892Human2name
11588212CV288686single nucleotide variantNM_000751.3(CHRND):c.*676G>ACongenital myasthenic syndrome [RCV000301128]|Lethal multiple pterygium syndrome [RCV000399879]likely benign|uncertain significance2232535988232535988Human2name
14725075CV658872single nucleotide variantNM_000751.2(CHRND):c.-394T>Gnot provided [RCV000833271]likely benign2232525822232525822Humanname
28887764CV884126single nucleotide variantNM_000751.3(CHRND):c.*175G>ACongenital myasthenic syndrome [RCV001138613]|Lethal multiple pterygium syndrome [RCV001138186]uncertain significance2232535487232535487Human2name
28889165CV884127single nucleotide variantNM_000751.3(CHRND):c.*268G>ACongenital myasthenic syndrome [RCV001138614]|Lethal multiple pterygium syndrome [RCV001138615]uncertain significance2232535580232535580Human2name
28889170CV884128single nucleotide variantNM_000751.3(CHRND):c.*290G>ACongenital myasthenic syndrome [RCV001141181]|Lethal multiple pterygium syndrome [RCV001138616]uncertain significance2232535602232535602Human2name
28896283CV884129single nucleotide variantNM_000751.3(CHRND):c.*342C>TCongenital myasthenic syndrome [RCV001141183]|Lethal multiple pterygium syndrome [RCV001141182]uncertain significance2232535654232535654Human2name
28896288CV884130single nucleotide variantNM_000751.3(CHRND):c.*365C>AAutosomal recessive multiple pterygium syndrome [RCV001141185]|Congenital myasthenic syndrome [RCV001141184]likely benign|uncertain significance2232535677232535677Human2name
28901084CV884131single nucleotide variantNM_000751.3(CHRND):c.*453T>CCongenital myasthenic syndrome [RCV001143030]|Lethal multiple pterygium syndrome [RCV001143029]uncertain significance2232535765232535765Human2name
28888085CV884132single nucleotide variantNM_000751.3(CHRND):c.*505C>GCongenital myasthenic syndrome [RCV001143031]|Lethal multiple pterygium syndrome [RCV001138284]uncertain significance2232535817232535817Human2name
28888091CV884133single nucleotide variantNM_000751.3(CHRND):c.*598G>CCongenital myasthenic syndrome [RCV001138286]|Lethal multiple pterygium syndrome [RCV001138287]uncertain significance2232535910232535910Human2name
28889439CV884134single nucleotide variantNM_000751.3(CHRND):c.*908A>GCongenital myasthenic syndrome [RCV001141283]|Lethal multiple pterygium syndrome [RCV001138706]likely benign|uncertain significance2232536220232536220Human2name
28896563CV884135single nucleotide variantNM_000751.3(CHRND):c.*969G>ACongenital myasthenic syndrome [RCV001141284]|Lethal multiple pterygium syndrome [RCV001141285]uncertain significance2232536281232536281Human2name
28900290CV887315single nucleotide variantNM_000751.3(CHRND):c.52+7G>ACHRND-related disorder [RCV003938497]|Congenital myasthenic syndrome [RCV001142714]|Lethal multiple pterygium syndrome [RCV001142715]likely benign|uncertain significance2232526274232526274Human2name , trait , alternate_id
127242057CV1091017single nucleotide variantNM_000751.3(CHRND):c.198+7G>ALethal multiple pterygium syndrome [RCV001434549]likely benign2232526681232526681Human1name
127336521CV1112532single nucleotide variantNM_000751.3(CHRND):c.620-7C>TCHRND-related disorder [RCV003946232]|Lethal multiple pterygium syndrome [RCV001475009]likely benign2232529932232529932Human1name , trait , alternate_id
127306692CV1133446single nucleotide variantNM_000751.3(CHRND):c.199-8A>GLethal multiple pterygium syndrome [RCV001500299]likely benign2232527393232527393Human1name
151752113CV1426823single nucleotide variantNM_000751.3(CHRND):c.243+1G>ALethal multiple pterygium syndrome [RCV002006966]likely pathogenic2232527446232527446Human1name
152121936CV1521521single nucleotide variantNM_000751.3(CHRND):c.53-16C>TLethal multiple pterygium syndrome [RCV002135816]likely benign2232526513232526513Human1name
152106318CV1560063single nucleotide variantNM_000751.3(CHRND):c.243+9G>ALethal multiple pterygium syndrome [RCV002133896]likely benign2232527454232527454Human1name
156389765CV1874301single nucleotide variantNM_000751.3(CHRND):c.820+5G>ALethal multiple pterygium syndrome [RCV003067892]uncertain significance2232530144232530144Human1name
156405363CV1893789single nucleotide variantNM_000751.3(CHRND):c.52+15C>ALethal multiple pterygium syndrome [RCV003069999]likely benign2232526282232526282Human1name
10053390CV196198single nucleotide variantNM_000751.3(CHRND):c.933-9T>CLethal multiple pterygium syndrome [RCV001078950]|not provided [RCV000180528]likely benign|conflicting interpretations of pathogenicity|uncertain significance2232531533232531533Human1name
156405317CV1994342single nucleotide variantNM_000751.3(CHRND):c.932+5G>TLethal multiple pterygium syndrome [RCV002658277]uncertain significance2232531468232531468Human1name
156105031CV2001925single nucleotide variantNM_000751.3(CHRND):c.52+18C>ALethal multiple pterygium syndrome [RCV002639723]likely benign2232526285232526285Human1name
156211304CV2018882single nucleotide variantNM_000751.3(CHRND):c.932+2T>ALethal multiple pterygium syndrome [RCV002700636]likely pathogenic2232531465232531465Human1name
155975045CV2031881single nucleotide variantNM_000751.3(CHRND):c.244-3C>TLethal multiple pterygium syndrome [RCV002755062]uncertain significance2232528259232528259Human1name
156206932CV2042290single nucleotide variantNM_000751.3(CHRND):c.933-6C>GLethal multiple pterygium syndrome [RCV002766454]likely benign2232531536232531536Human1name
10406431CV206948single nucleotide variantNM_000751.3(CHRND):c.932+5G>Anot provided [RCV002243875]|not specified [RCV000192555]likely pathogenic|uncertain significance2232531468232531468Humanname
156337571CV2178295single nucleotide variantNM_000751.3(CHRND):c.620-3C>TLethal multiple pterygium syndrome [RCV003047561]uncertain significance2232529936232529936Human1name
11587364CV285296single nucleotide variantNM_000751.3(CHRND):c.*1313G>ACongenital myasthenic syndrome [RCV000294414]|Lethal multiple pterygium syndrome [RCV000388639]uncertain significance2232536625232536625Human2name
11646776CV285951single nucleotide variantNM_000751.3(CHRND):c.*1032C>TCongenital myasthenic syndrome [RCV000272262]|Lethal multiple pterygium syndrome [RCV000376197]uncertain significance2232536344232536344Human2name
11586348CV285956single nucleotide variantNM_000751.3(CHRND):c.*1240T>CCongenital myasthenic syndrome [RCV000287508]|Lethal multiple pterygium syndrome [RCV000352790]benign|uncertain significance2232536552232536552Human2name
11583436CV288264single nucleotide variantNM_000751.3(CHRND):c.*1025A>GAutosomal recessive multiple pterygium syndrome [RCV000266518]|Congenital Myasthenic Syndrome, Dominant/Recessive [RCV000321601]|Congenital myasthenic syndrome [RCV001141286]|Lethal multiple pterygium syndrome [RCV001141287]|not provided [RCV001778927]benign|likely benign2232536337232536337Human3name
11591289CV288688single nucleotide variantNM_000751.3(CHRND):c.*1194C>TCongenital myasthenic syndrome [RCV000381835]|Lethal multiple pterygium syndrome [RCV000327370]uncertain significance2232536506232536506Human2name
405086493CV2959189single nucleotide variantNM_000751.3(CHRND):c.53-15G>ALethal multiple pterygium syndrome [RCV003634479]likely benign2232526514232526514Human1name
405092837CV2991418single nucleotide variantNM_000751.3(CHRND):c.933-7C>TLethal multiple pterygium syndrome [RCV003634955]likely benign2232531535232531535Human1name
405096348CV3010677single nucleotide variantNM_000751.3(CHRND):c.821-5C>ALethal multiple pterygium syndrome [RCV003635327]likely benign2232531347232531347Human1name
405075408CV3048443single nucleotide variantNM_000751.3(CHRND):c.52+18C>GLethal multiple pterygium syndrome [RCV003633423]likely benign2232526285232526285Human1name
597927632CV3788705single nucleotide variantNM_000751.3(CHRND):c.510-1G>TLethal multiple pterygium syndrome [RCV005131183]likely pathogenic2232528861232528861Human1name
597904844CV3803597single nucleotide variantNM_000751.3(CHRND):c.199-6T>CLethal multiple pterygium syndrome [RCV005153330]uncertain significance2232527395232527395Human1name
597921237CV3839418single nucleotide variantNM_000751.3(CHRND):c.509+1G>ALethal multiple pterygium syndrome [RCV005184350]likely pathogenic2232528657232528657Human1name
597959968CV3843511single nucleotide variantNM_000751.3(CHRND):c.821-5C>TLethal multiple pterygium syndrome [RCV005192548]likely benign2232531347232531347Human1name
12894329CV405659single nucleotide variantNM_000751.3(CHRND):c.933-2A>GLethal multiple pterygium syndrome [RCV005090961]|not provided [RCV000482356]likely pathogenic2232531540232531540Human1name
13612029CV517962single nucleotide variantNM_000751.3(CHRND):c.619+4C>ACHRND-related disorder [RCV003928090]|Lethal multiple pterygium syndrome [RCV000642115]likely benign|uncertain significance2232528975232528975Human1name , trait , alternate_id
14704900CV650919single nucleotide variantNM_000751.3(CHRND):c.821-2A>CCongenital myasthenic syndrome 3C [RCV003147550]|Lethal multiple pterygium syndrome [RCV000799156]|not provided [RCV004696997]pathogenic|likely pathogenic2232531350232531350Human2name
14713076CV650946single nucleotide variantNM_000751.3(CHRND):c.932+3G>ALethal multiple pterygium syndrome [RCV000822703]uncertain significance2232531466232531466Human1name
15138193CV695126single nucleotide variantNM_000751.3(CHRND):c.620-8G>ACHRND-related disorder [RCV003920456]|Lethal multiple pterygium syndrome [RCV000877120]benign|likely benign2232529931232529931Human1name , trait , alternate_id
15158763CV778958single nucleotide variantNM_000751.3(CHRND):c.620-9C>TLethal multiple pterygium syndrome [RCV002066414]likely benign2232529930232529930Human1name
28901338CV884136single nucleotide variantNM_000751.3(CHRND):c.*1189G>CCongenital myasthenic syndrome [RCV001143138]|Lethal multiple pterygium syndrome [RCV001143139]uncertain significance2232536501232536501Human2name
28901342CV884137single nucleotide variantNM_000751.3(CHRND):c.*1232A>CCongenital myasthenic syndrome [RCV001143141]|Lethal multiple pterygium syndrome [RCV001143140]uncertain significance2232536544232536544Human2name
28882214CV884138single nucleotide variantNM_000751.3(CHRND):c.*1278C>TCongenital myasthenic syndrome [RCV001136572]|Lethal multiple pterygium syndrome [RCV001136571]uncertain significance2232536590232536590Human2name
28882222CV884139single nucleotide variantNM_000751.3(CHRND):c.*1314A>TCongenital myasthenic syndrome [RCV001136574]|Lethal multiple pterygium syndrome [RCV001136573]uncertain significance2232536626232536626Human2name
28887371CV887316single nucleotide variantNM_000751.3(CHRND):c.932+9C>TCongenital myasthenic syndrome [RCV001138072]|Lethal multiple pterygium syndrome [RCV001138071]conflicting interpretations of pathogenicity|uncertain significance2232531472232531472Human2name
126736154CV988492single nucleotide variantNM_000751.3(CHRND):c.620-3C>GLethal multiple pterygium syndrome [RCV001304703]uncertain significance2232529936232529936Human1name
127236457CV1069320deletionNM_000751.3(CHRND):c.619+10delLethal multiple pterygium syndrome [RCV001414674]likely benign2232528980232528980Human1name
150333840CV1168898single nucleotide variantNM_000751.3(CHRND):c.820+48G>Anot provided [RCV001537505]likely benign2232530187232530187Humanname
150405310CV1176125single nucleotide variantNM_000751.3(CHRND):c.932+20G>ALethal multiple pterygium syndrome [RCV002071981]|not provided [RCV001544806]benign|likely benign2232531483232531483Human1name
150414296CV1189837duplicationNM_000751.3(CHRND):c.199-90dupnot provided [RCV001567472]likely benign2232527302232527303Humanname
150474680CV1202134single nucleotide variantNM_000751.3(CHRND):c.243+65C>Tnot provided [RCV001589377]likely benign2232527510232527510Humanname
8659291CV134204single nucleotide variantNM_000751.3(CHRND):c.1047+9T>CCongenital myasthenic syndrome [RCV000340882]|Lethal multiple pterygium syndrome [RCV000399264]|not provided [RCV004709253]|not specified [RCV000116728]benign|likely benign|conflicting interpretations of pathogenicity2232531665232531665Human2name
151870753CV1413351single nucleotide variantNM_000751.3(CHRND):c.1252+1G>ALethal multiple pterygium syndrome [RCV001998299]likely pathogenic2232534136232534136Human1name
152143335CV1538383single nucleotide variantNM_000751.3(CHRND):c.353+14C>GLethal multiple pterygium syndrome [RCV002219667]likely benign2232528385232528385Human1name
152081616CV1546788single nucleotide variantNM_000751.3(CHRND):c.619+16G>TLethal multiple pterygium syndrome [RCV002130889]likely benign2232528987232528987Human1name
152168635CV1548101single nucleotide variantNM_000751.3(CHRND):c.932+16G>ALethal multiple pterygium syndrome [RCV002161186]likely benign2232531479232531479Human1name
152152503CV1565269single nucleotide variantNM_000751.3(CHRND):c.199-12G>ALethal multiple pterygium syndrome [RCV002102446]likely benign2232527389232527389Human1name
152050564CV1585748single nucleotide variantNM_000751.3(CHRND):c.820+13G>ALethal multiple pterygium syndrome [RCV002145638]likely benign2232530152232530152Human1name
152147224CV1608147single nucleotide variantNM_000751.3(CHRND):c.510-16C>ALethal multiple pterygium syndrome [RCV002178907]likely benign2232528846232528846Human1name
152167856CV1644884single nucleotide variantNM_000751.3(CHRND):c.199-19C>TLethal multiple pterygium syndrome [RCV002142264]benign2232527382232527382Human1name
156351232CV1883010single nucleotide variantNM_000751.3(CHRND):c.198+13C>GLethal multiple pterygium syndrome [RCV003090991]likely benign2232526687232526687Human1name
156448945CV1948256single nucleotide variantNM_000751.3(CHRND):c.1371+1G>TLethal multiple pterygium syndrome [RCV003121053]uncertain significance2232534343232534343Human1name
156393577CV1962514single nucleotide variantNM_000751.3(CHRND):c.619+16G>ALethal multiple pterygium syndrome [RCV002584119]likely benign2232528987232528987Human1name
156389928CV1998541single nucleotide variantNM_000751.3(CHRND):c.619+16G>CLethal multiple pterygium syndrome [RCV002680662]likely benign2232528987232528987Human1name
156327349CV2050377single nucleotide variantNM_000751.3(CHRND):c.509+11T>CLethal multiple pterygium syndrome [RCV002810473]likely benign2232528667232528667Human1name
156295038CV2065265single nucleotide variantNM_000751.3(CHRND):c.510-16C>GLethal multiple pterygium syndrome [RCV002856905]likely benign2232528846232528846Human1name
10404218CV206949single nucleotide variantNM_000751.3(CHRND):c.1371+7G>TLethal multiple pterygium syndrome [RCV000554567]|not provided [RCV003436985]|not specified [RCV000194524]benign|uncertain significance2232534349232534349Human1name
155936985CV2071458single nucleotide variantNM_000751.3(CHRND):c.619+15C>TLethal multiple pterygium syndrome [RCV002839148]likely benign2232528986232528986Human1name
11546470CV250660single nucleotide variantNM_000751.3(CHRND):c.198+14C>TCongenital myasthenic syndrome [RCV001137971]|Lethal multiple pterygium syndrome [RCV001137972]|not specified [RCV000246502]likely benign|conflicting interpretations of pathogenicity|uncertain significance2232526688232526688Human2name
11542968CV250663single nucleotide variantNM_000751.3(CHRND):c.821-37G>Anot provided [RCV001668444]|not specified [RCV000241832]benign2232531315232531315Humanname
11584234CV288236single nucleotide variantNM_000751.3(CHRND):c.1253-9C>TCongenital myasthenic syndrome [RCV000272177]|Lethal multiple pterygium syndrome [RCV000875263]benign|conflicting interpretations of pathogenicity|uncertain significance2232534215232534215Human2name
405046929CV2885872single nucleotide variantNM_000751.3(CHRND):c.820+17C>GLethal multiple pterygium syndrome [RCV003518522]likely benign2232530156232530156Human1name
405029551CV2902933single nucleotide variantNM_000751.3(CHRND):c.821-19C>TLethal multiple pterygium syndrome [RCV003516689]likely benign2232531333232531333Human1name
405086063CV2961663single nucleotide variantNM_000751.3(CHRND):c.244-18A>TLethal multiple pterygium syndrome [RCV003634447]likely benign2232528244232528244Human1name
405087863CV2971261single nucleotide variantNM_000751.3(CHRND):c.933-19G>ALethal multiple pterygium syndrome [RCV003634569]likely benign2232531523232531523Human1name
405092563CV2995377single nucleotide variantNM_000751.3(CHRND):c.509+18G>ALethal multiple pterygium syndrome [RCV003634979]likely benign2232528674232528674Human1name
405095607CV3013167single nucleotide variantNM_000751.3(CHRND):c.932+17C>ALethal multiple pterygium syndrome [RCV003635279]likely benign2232531480232531480Human1name
405074293CV3053809single nucleotide variantNM_000751.3(CHRND):c.510-17C>ALethal multiple pterygium syndrome [RCV003633342]likely benign2232528845232528845Human1name
405081426CV3060727single nucleotide variantNM_000751.3(CHRND):c.1047+3G>ALethal multiple pterygium syndrome [RCV003634045]uncertain significance2232531659232531659Human1name
405171916CV3150123single nucleotide variantNM_000751.3(CHRND):c.820+17C>TLethal multiple pterygium syndrome [RCV003841594]likely benign2232530156232530156Human1name
402467927CV3174211single nucleotide variantNM_000751.3(CHRND):c.820+13G>TLethal multiple pterygium syndrome [RCV003873494]likely benign2232530152232530152Human1name
404979201CV3176018single nucleotide variantNM_000751.3(CHRND):c.199-13C>TLethal multiple pterygium syndrome [RCV003880118]likely benign2232527388232527388Human1name
402494453CV3182986single nucleotide variantNM_000751.3(CHRND):c.1252+9C>ALethal multiple pterygium syndrome [RCV003877294]likely benign2232534144232534144Human1name
12842808CV366478single nucleotide variantNM_000751.3(CHRND):c.1048-7G>TLethal multiple pterygium syndrome [RCV001446555]|not specified [RCV000435091]likely benign|conflicting interpretations of pathogenicity2232533924232533924Human1name
597849787CV3761719single nucleotide variantNM_000751.3(CHRND):c.620-17C>TLethal multiple pterygium syndrome [RCV005087815]likely benign2232529922232529922Human1name
597884962CV3780671single nucleotide variantNM_000751.3(CHRND):c.353+12C>ALethal multiple pterygium syndrome [RCV005124799]likely benign2232528383232528383Human1name
13482485CV450856single nucleotide variantNM_000751.3(CHRND):c.1253-8G>ALethal multiple pterygium syndrome [RCV000529427]|not provided [RCV001662557]benign|likely benign2232534216232534216Human1name
13592656CV499990single nucleotide variantNM_000751.3(CHRND):c.198+15G>ALethal multiple pterygium syndrome [RCV002529444]|not specified [RCV000606177]likely benign2232526689232526689Human1name
14705565CV650989single nucleotide variantNM_000751.3(CHRND):c.1047+5G>TLethal multiple pterygium syndrome [RCV000801206]uncertain significance2232531661232531661Human1name
14737106CV658747single nucleotide variantNM_000751.3(CHRND):c.510-28G>Anot provided [RCV000838790]likely benign2232528834232528834Humanname
14739429CV658874single nucleotide variantNM_000751.3(CHRND):c.198+79A>Gnot provided [RCV000839871]benign2232526753232526753Humanname
15143476CV695127single nucleotide variantNM_000751.3(CHRND):c.932+10G>ALethal multiple pterygium syndrome [RCV001476822]likely benign2232531473232531473Human1name
127248092CV1069321single nucleotide variantNM_000751.3(CHRND):c.1371+10C>ALethal multiple pterygium syndrome [RCV001394384]likely benign2232534352232534352Human1name
150424609CV1183131single nucleotide variantNM_000751.3(CHRND):c.1371+87T>Cnot provided [RCV001556889]likely benign2232534429232534429Humanname
150505853CV1226201single nucleotide variantNM_000751.3(CHRND):c.619+117C>Tnot provided [RCV001635569]benign2232529088232529088Humanname
150488206CV1251632single nucleotide variantNM_000751.3(CHRND):c.243+113C>Anot provided [RCV001674304]benign2232527558232527558Humanname
150446047CV1261302single nucleotide variantNM_000751.3(CHRND):c.199-230G>Cnot provided [RCV001679976]benign2232527171232527171Humanname
150442949CV1266316single nucleotide variantNM_000751.3(CHRND):c.820+180T>Cnot provided [RCV001690752]benign2232530319232530319Humanname
150475135CV1271149single nucleotide variantNM_000751.3(CHRND):c.199-146A>Gnot provided [RCV001695972]benign2232527255232527255Humanname
151235055CV1318314single nucleotide variantNM_000751.3(CHRND):c.243+126C>Tnot provided [RCV001794637]likely benign2232527571232527571Humanname
152120149CV1547338single nucleotide variantNM_000751.3(CHRND):c.1047+17G>ALethal multiple pterygium syndrome [RCV002081441]likely benign2232531673232531673Human1name
152051035CV1596745single nucleotide variantNM_000751.3(CHRND):c.1047+10T>CLethal multiple pterygium syndrome [RCV002166881]likely benign2232531666232531666Human1name
152043328CV1621848single nucleotide variantNM_000751.3(CHRND):c.1047+19G>ALethal multiple pterygium syndrome [RCV002108035]likely benign2232531675232531675Human1name
152131868CV1660425single nucleotide variantNM_000751.3(CHRND):c.1047+16G>ALethal multiple pterygium syndrome [RCV002176905]likely benign2232531672232531672Human1name
156035394CV1932693single nucleotide variantNM_000751.3(CHRND):c.1253-13C>ALethal multiple pterygium syndrome [RCV002637349]likely benign2232534211232534211Human1name
156420085CV1975572single nucleotide variantNM_000751.3(CHRND):c.1047+15C>TLethal multiple pterygium syndrome [RCV002613337]likely benign2232531671232531671Human1name
156230832CV2085255single nucleotide variantNM_000751.3(CHRND):c.1047+20C>TLethal multiple pterygium syndrome [RCV002876230]likely benign2232531676232531676Human1name
156212176CV2114524single nucleotide variantNM_000751.3(CHRND):c.1253-11C>GLethal multiple pterygium syndrome [RCV002932107]likely benign2232534213232534213Human1name
156315058CV2120292single nucleotide variantNM_000751.3(CHRND):c.1253-11C>ALethal multiple pterygium syndrome [RCV002962848]likely benign2232534213232534213Human1name
156264731CV2170093single nucleotide variantNM_000751.3(CHRND):c.1048-12A>GLethal multiple pterygium syndrome [RCV003026777]likely benign2232533919232533919Human1name
11549373CV250664single nucleotide variantNM_000751.3(CHRND):c.1372-50T>Gnot provided [RCV001552097]|not specified [RCV000250337]likely benign2232535080232535080Humanname
11588837CV285906single nucleotide variantNM_000751.3(CHRND):c.1252+10C>TCongenital myasthenic syndrome [RCV000305998]|Lethal multiple pterygium syndrome [RCV000353833]conflicting interpretations of pathogenicity|uncertain significance2232534145232534145Human2name
11583428CV288680single nucleotide variantNM_000751.3(CHRND):c.1253-10T>GCongenital myasthenic syndrome [RCV000266455]|Lethal multiple pterygium syndrome [RCV000871417]likely benign|conflicting interpretations of pathogenicity|uncertain significance2232534214232534214Human2name
405075167CV3048099single nucleotide variantNM_000751.3(CHRND):c.1252+16T>ALethal multiple pterygium syndrome [RCV003633406]likely benign2232534151232534151Human1name
405188063CV3156582single nucleotide variantNM_000751.3(CHRND):c.1371+17T>CLethal multiple pterygium syndrome [RCV003859460]likely benign2232534359232534359Human1name
597868443CV3838893single nucleotide variantNM_000751.3(CHRND):c.1252+15G>ALethal multiple pterygium syndrome [RCV005176189]likely benign2232534150232534150Human1name
14740450CV658889single nucleotide variantNM_000751.3(CHRND):c.243+294A>Gnot provided [RCV000840350]benign2232527739232527739Humanname
150429277CV1186404single nucleotide variantNM_000751.3(CHRND):c.1372-239T>Cnot provided [RCV001563384]likely benign2232534891232534891Humanname
150413219CV1189838single nucleotide variantNM_000751.3(CHRND):c.1047+279A>Gnot provided [RCV001567134]likely benign2232531935232531935Humanname
150419221CV1193106single nucleotide variantNM_000751.3(CHRND):c.1371+189G>Anot provided [RCV001569586]likely benign2232534531232534531Humanname
150438472CV1238027single nucleotide variantNM_000751.3(CHRND):c.1047+253G>Tnot provided [RCV001644525]benign2232531909232531909Humanname
150406264CV1176124microsatelliteNM_000751.3(CHRND):c.199-90AG[16]not provided [RCV001545211]likely benign2232527310232527311Humanname
150417519CV1179480microsatelliteNM_000751.3(CHRND):c.199-90AG[11]not provided [RCV001550164]likely benign2232527311232527312Humanname
150470004CV1243253microsatelliteNM_000751.3(CHRND):c.199-90AG[13]not provided [RCV001650774]benign2232527310232527311Humanname
11649967CV288685duplicationNM_000751.3(CHRND):c.*623_*627dupAutosomal recessive multiple pterygium syndrome [RCV000395209]|Congenital Myasthenic Syndrome, Dominant/Recessive [RCV000290271]uncertain significance2232535933232535934Human2name
8566723CV33406deletionNM_000751.3(CHRND):c.820_820+1delCongenital myasthenic syndrome 3B [RCV000020035]|Lethal multiple pterygium syndrome [RCV001851959]pathogenic2232530139232530140Human2name
11649183CV288248insertionNM_000751.3(CHRND):c.*144_*145insAGAutosomal recessive multiple pterygium syndrome [RCV000396956]|Congenital Myasthenic Syndrome, Dominant/Recessive [RCV000285711]uncertain significance2232535455232535456Human2name
127306562CV1133445single nucleotide variantNM_000751.3(CHRND):c.27G>T (p.Gly9=)Lethal multiple pterygium syndrome [RCV001480117]likely benign2232526242232526242Human1name
8659293CV134206single nucleotide variantNM_000751.3(CHRND):c.12A>G (p.Pro4=)Congenital myasthenic syndrome [RCV000306623]|Lethal multiple pterygium syndrome [RCV000395212]|not provided [RCV004707951]|not specified [RCV000116730]benign2232526227232526227Human2name
10042917CV187686deletionNM_000751.3(CHRND):c.901_1048-282delCongenital myasthenic syndrome 3C [RCV000170318]pathogenic|likely pathogenic|not provided2232531431232533648Human1name
15146394CV691051single nucleotide variantNM_000751.3(CHRND):c.27G>C (p.Gly9=)Lethal multiple pterygium syndrome [RCV000878547]|not provided [RCV003145225]likely benign|uncertain significance2232526242232526242Human1name
126914836CV1037160single nucleotide variantNM_000751.3(CHRND):c.8G>C (p.Gly3Ala)not provided [RCV001358607]uncertain significance2232526223232526223Humanname
127254527CV1091016single nucleotide variantNM_000751.3(CHRND):c.84G>A (p.Leu28=)Lethal multiple pterygium syndrome [RCV001426320]likely benign2232526560232526560Human1name
150423756CV1183130duplicationNM_000751.3(CHRND):c.199-91_199-90dupnot provided [RCV001555754]likely benign2232527302232527303Humanname
151811188CV1516706single nucleotide variantNM_000751.3(CHRND):c.2T>C (p.Met1Thr)Lethal multiple pterygium syndrome [RCV002012450]pathogenic|uncertain significance2232526217232526217Human1name
152141623CV1625330single nucleotide variantNM_000751.3(CHRND):c.42G>C (p.Leu14=)Lethal multiple pterygium syndrome [RCV002219450]likely benign2232526257232526257Human1name
11547505CV250662microsatelliteNM_000751.3(CHRND):c.821-52_821-18delnot provided [RCV001682986]|not specified [RCV000247845]benign|likely benign2232531265232531299Humanname
597934250CV3810887single nucleotide variantNM_000751.3(CHRND):c.42G>A (p.Leu14=)Lethal multiple pterygium syndrome [RCV005157596]likely benign2232526257232526257Human1name
13496122CV450493single nucleotide variantNM_000751.3(CHRND):c.45G>A (p.Ala15=)Congenital myasthenic syndrome [RCV001142713]|Lethal multiple pterygium syndrome [RCV000537628]likely benign|conflicting interpretations of pathogenicity|uncertain significance2232526260232526260Human2name
15196098CV763056single nucleotide variantNM_000751.3(CHRND):c.31C>T (p.Leu11=)Lethal multiple pterygium syndrome [RCV000934124]likely benign2232526246232526246Human1name
15109251CV781240single nucleotide variantNM_000751.3(CHRND):c.96G>T (p.Leu32=)Lethal multiple pterygium syndrome [RCV000977197]likely benign2232526572232526572Human1name
126732242CV1000328single nucleotide variantNM_000751.3(CHRND):c.19A>C (p.Thr7Pro)Congenital myasthenic syndrome 3A [RCV005361521]|not provided [RCV001310780]uncertain significance2232526234232526234Human1name
127268082CV1059257deletionNM_000751.3(CHRND):c.88del (p.Arg30fs)Lethal multiple pterygium syndrome [RCV001389142]pathogenic2232526563232526563Human1name
127285950CV1133447single nucleotide variantNM_000751.3(CHRND):c.225C>G (p.Thr75=)Lethal multiple pterygium syndrome [RCV001493894]likely benign2232527427232527427Human1name
127337931CV1133448single nucleotide variantNM_000751.3(CHRND):c.264G>C (p.Leu88=)Lethal multiple pterygium syndrome [RCV001493287]likely benign2232528282232528282Human1name
8659292CV134205single nucleotide variantNM_000751.3(CHRND):c.120G>A (p.Lys40=)Congenital myasthenic syndrome [RCV000345157]|Lethal multiple pterygium syndrome [RCV000553429]|not provided [RCV004707950]|not specified [RCV000116729]benign|likely benign|conflicting interpretations of pathogenicity2232526596232526596Human2name
8659294CV134207single nucleotide variantNM_000751.3(CHRND):c.243C>T (p.His81=)Lethal multiple pterygium syndrome [RCV001080042]|not provided [RCV000514047]|not specified [RCV000116731]benign|likely benign|conflicting interpretations of pathogenicity2232527445232527445Human1name
152130810CV1567842single nucleotide variantNM_000751.3(CHRND):c.108G>A (p.Lys36=)Lethal multiple pterygium syndrome [RCV002218045]likely benign2232526584232526584Human1name
156112741CV1871096single nucleotide variantNM_000751.3(CHRND):c.180C>T (p.Leu60=)Lethal multiple pterygium syndrome [RCV003081115]likely benign2232526656232526656Human1name
156053490CV1924021single nucleotide variantNM_000751.3(CHRND):c.174C>A (p.Leu58=)Lethal multiple pterygium syndrome [RCV002638023]likely benign2232526650232526650Human1name
156019584CV2019272single nucleotide variantNM_000751.3(CHRND):c.231G>A (p.Val77=)Lethal multiple pterygium syndrome [RCV002690935]likely benign2232527433232527433Human1name
405044878CV2870164single nucleotide variantNM_000751.3(CHRND):c.13G>T (p.Val5Leu)Lethal multiple pterygium syndrome [RCV003518342]uncertain significance2232526228232526228Human1name
405047104CV2882513insertionNM_000751.3(CHRND):c.198+12_198+13insALethal multiple pterygium syndrome [RCV003518537]likely benign2232526686232526687Human1name
405094429CV3011376deletionNM_000751.3(CHRND):c.36del (p.Ala13fs)Lethal multiple pterygium syndrome [RCV003635159]pathogenic2232526251232526251Human1name
597896525CV3740412single nucleotide variantNM_000751.3(CHRND):c.147G>A (p.Glu49=)Lethal multiple pterygium syndrome [RCV005071765]likely benign2232526623232526623Human1name
597939488CV3756867single nucleotide variantNM_000751.3(CHRND):c.201A>G (p.Lys67=)Lethal multiple pterygium syndrome [RCV005077248]uncertain significance2232527403232527403Human1name
597936065CV3759518single nucleotide variantNM_000751.3(CHRND):c.228T>C (p.Asn76=)Lethal multiple pterygium syndrome [RCV005076638]likely benign2232527430232527430Human1name
597871697CV3835737single nucleotide variantNM_000751.3(CHRND):c.262C>T (p.Leu88=)Lethal multiple pterygium syndrome [RCV005176728]likely benign2232528280232528280Human1name
597965196CV3848287single nucleotide variantNM_000751.3(CHRND):c.267G>A (p.Lys89=)Lethal multiple pterygium syndrome [RCV005194167]likely benign2232528285232528285Human1name
597916011CV3860940deletionNM_000751.3(CHRND):c.95del (p.Leu32fs)Lethal multiple pterygium syndrome [RCV005204303]pathogenic2232526571232526571Human1name
15140465CV691052single nucleotide variantNM_000751.3(CHRND):c.132C>T (p.Pro44=)Lethal multiple pterygium syndrome [RCV002064884]likely benign2232526608232526608Human1name
15129833CV691053single nucleotide variantNM_000751.3(CHRND):c.159C>T (p.Asp53=)Lethal multiple pterygium syndrome [RCV000875711]likely benign2232526635232526635Human1name
15153728CV697406single nucleotide variantNM_000751.3(CHRND):c.132C>G (p.Pro44=)Lethal multiple pterygium syndrome [RCV000946141]|Lethal multiple pterygium syndrome [RCV002489287]likely benign2232526608232526608Human1name
15171438CV763057single nucleotide variantNM_000751.3(CHRND):c.129G>A (p.Arg43=)Lethal multiple pterygium syndrome [RCV000927906]likely benign2232526605232526605Human1name
126749882CV1024244single nucleotide variantNM_000751.3(CHRND):c.34G>A (p.Ala12Thr)Lethal multiple pterygium syndrome [RCV001337931]uncertain significance2232526249232526249Human1name
127237966CV1069319single nucleotide variantNM_000751.3(CHRND):c.513C>T (p.Ser171=)Lethal multiple pterygium syndrome [RCV001415025]likely benign2232528865232528865Human1name
127262035CV1091018single nucleotide variantNM_000751.3(CHRND):c.888C>T (p.Ser296=)Lethal multiple pterygium syndrome [RCV001438854]likely benign2232531419232531419Human1name
127299448CV1112530single nucleotide variantNM_000751.3(CHRND):c.360C>T (p.Asp120=)Lethal multiple pterygium syndrome [RCV001460814]likely benign2232528507232528507Human1name
127311872CV1112531single nucleotide variantNM_000751.3(CHRND):c.435C>T (p.Ala145=)Lethal multiple pterygium syndrome [RCV001457020]likely benign2232528582232528582Human1name
127317656CV1133449single nucleotide variantNM_000751.3(CHRND):c.726C>T (p.Ile242=)Lethal multiple pterygium syndrome [RCV001483210]likely benign2232530045232530045Human1name
8659295CV134208single nucleotide variantNM_000751.3(CHRND):c.408C>T (p.Tyr136=)CHRND-related disorder [RCV003945053]|Lethal multiple pterygium syndrome [RCV001455052]|not specified [RCV000116732]benign|likely benign2232528555232528555Human1name , trait , alternate_id
151861366CV1374215single nucleotide variantNM_000751.3(CHRND):c.80G>A (p.Arg27Gln)Congenital myasthenic syndrome 3B [RCV002283568]|Lethal multiple pterygium syndrome [RCV001938587]uncertain significance2232526556232526556Human2name
151814982CV1407748single nucleotide variantNM_000751.3(CHRND):c.68A>T (p.Asn23Ile)Lethal multiple pterygium syndrome [RCV002049219]uncertain significance2232526544232526544Human1name
151742531CV1470339single nucleotide variantNM_000751.3(CHRND):c.957G>A (p.Leu319=)Lethal multiple pterygium syndrome [RCV001871154]likely benign|uncertain significance2232531566232531566Human1name
151872022CV1480596single nucleotide variantNM_000751.3(CHRND):c.315G>A (p.Pro105=)Lethal multiple pterygium syndrome [RCV001906613]likely benign|uncertain significance2232528333232528333Human1name
152073599CV1556661single nucleotide variantNM_000751.3(CHRND):c.945C>T (p.Phe315=)Lethal multiple pterygium syndrome [RCV002111794]likely benign2232531554232531554Human1name
152089071CV1563035single nucleotide variantNM_000751.3(CHRND):c.624C>T (p.Asn208=)Lethal multiple pterygium syndrome [RCV002113818]likely benign2232529943232529943Human1name
152026846CV1593516single nucleotide variantNM_000751.3(CHRND):c.582C>G (p.Pro194=)Lethal multiple pterygium syndrome [RCV002104694]likely benign2232528934232528934Human1name
152048465CV1622980single nucleotide variantNM_000751.3(CHRND):c.390C>T (p.Asn130=)Lethal multiple pterygium syndrome [RCV002126932]likely benign2232528537232528537Human1name
152164740CV1625549single nucleotide variantNM_000751.3(CHRND):c.921C>T (p.Pro307=)Lethal multiple pterygium syndrome [RCV002160309]likely benign2232531452232531452Human1name
152027440CV1636257single nucleotide variantNM_000751.3(CHRND):c.70G>A (p.Glu24Lys)Lethal multiple pterygium syndrome [RCV002085131]|not provided [RCV004721017]likely benign|uncertain significance2232526546232526546Human1name
152159453CV1649799single nucleotide variantNM_000751.3(CHRND):c.984C>G (p.Val328=)Lethal multiple pterygium syndrome [RCV002159375]likely benign2232531593232531593Human1name
10049357CV190288single nucleotide variantNM_000751.3(CHRND):c.44C>T (p.Ala15Val)Lethal multiple pterygium syndrome [RCV000557059]|not provided [RCV000724009]|not specified [RCV000173168]likely benign|uncertain significance2232526259232526259Human1name
156217613CV1903455single nucleotide variantNM_000751.3(CHRND):c.59G>A (p.Trp20Ter)Lethal multiple pterygium syndrome [RCV003084861]pathogenic2232526535232526535Human1name
156356471CV1926921single nucleotide variantNM_000751.3(CHRND):c.79C>T (p.Arg27Trp)Lethal multiple pterygium syndrome [RCV002651319]uncertain significance2232526555232526555Human1name
156057991CV1928879deletionNM_000751.3(CHRND):c.211del (p.Glu71fs)Lethal multiple pterygium syndrome [RCV002620845]pathogenic2232527412232527412Human1name
156361493CV1931684single nucleotide variantNM_000751.3(CHRND):c.549G>A (p.Leu183=)Lethal multiple pterygium syndrome [RCV002632707]likely benign2232528901232528901Human1name
156086410CV2007186single nucleotide variantNM_000751.3(CHRND):c.336G>A (p.Glu112=)Lethal multiple pterygium syndrome [RCV002694786]likely benign2232528354232528354Human1name
156109026CV2038671single nucleotide variantNM_000751.3(CHRND):c.987C>T (p.Ile329=)Lethal multiple pterygium syndrome [RCV002761616]likely benign2232531596232531596Human1name
156216443CV2039142single nucleotide variantNM_000751.3(CHRND):c.738C>G (p.Pro246=)Lethal multiple pterygium syndrome [RCV002766817]likely benign2232530057232530057Human1name
156143166CV2082414single nucleotide variantNM_000751.3(CHRND):c.954G>C (p.Val318=)Lethal multiple pterygium syndrome [RCV002872055]likely benign2232531563232531563Human1name
156016929CV2114519single nucleotide variantNM_000751.3(CHRND):c.663C>T (p.Asn221=)Lethal multiple pterygium syndrome [RCV002909416]likely benign2232529982232529982Human1name
156096063CV2163379single nucleotide variantNM_000751.3(CHRND):c.29T>C (p.Leu10Pro)Lethal multiple pterygium syndrome [RCV003038395]uncertain significance2232526244232526244Human1name
243055363CV2407388single nucleotide variantNM_000751.3(CHRND):c.95T>C (p.Leu32Pro)not provided [RCV003144938]uncertain significance2232526571232526571Humanname
243055372CV2407391single nucleotide variantNM_000751.3(CHRND):c.72G>C (p.Glu24Asp)not provided [RCV003144941]uncertain significance2232526548232526548Humanname
11641287CV273258single nucleotide variantNM_000751.3(CHRND):c.654C>G (p.Ala218=)not provided [RCV000354173]uncertain significance2232529973232529973Humanname
405043496CV2876150single nucleotide variantNM_000751.3(CHRND):c.378C>T (p.Ser126=)Lethal multiple pterygium syndrome [RCV003518257]likely benign2232528525232528525Human1name
405043359CV2879526single nucleotide variantNM_000751.3(CHRND):c.543G>T (p.Leu181=)Lethal multiple pterygium syndrome [RCV003518248]likely benign2232528895232528895Human1name
11590231CV288235single nucleotide variantNM_000751.3(CHRND):c.525G>A (p.Thr175=)Congenital myasthenic syndrome [RCV000374066]|Lethal multiple pterygium syndrome [RCV000887600]benign|conflicting interpretations of pathogenicity|uncertain significance2232528877232528877Human2name
11583205CV288657single nucleotide variantNM_000751.3(CHRND):c.411C>T (p.Gly137=)CHRND-related disorder [RCV003969965]|Congenital myasthenic syndrome [RCV000265153]|Lethal multiple pterygium syndrome [RCV000536996]likely benign|conflicting interpretations of pathogenicity|uncertain significance2232528558232528558Human2name , trait , alternate_id
11582944CV288668single nucleotide variantNM_000751.3(CHRND):c.651G>A (p.Pro217=)Congenital myasthenic syndrome [RCV000329975]|Lethal multiple pterygium syndrome [RCV000871116]likely benign|conflicting interpretations of pathogenicity|uncertain significance2232529970232529970Human2name
405034130CV2924702single nucleotide variantNM_000751.3(CHRND):c.528C>T (p.Ala176=)Lethal multiple pterygium syndrome [RCV003517078]likely benign2232528880232528880Human1name
405095068CV2992061single nucleotide variantNM_000751.3(CHRND):c.468C>G (p.Thr156=)Lethal multiple pterygium syndrome [RCV003635008]likely benign2232528615232528615Human1name
405076198CV3049564single nucleotide variantNM_000751.3(CHRND):c.41T>G (p.Leu14Arg)Lethal multiple pterygium syndrome [RCV003633474]uncertain significance2232526256232526256Human1name
405075302CV3055169single nucleotide variantNM_000751.3(CHRND):c.993C>T (p.Leu331=)Lethal multiple pterygium syndrome [RCV003633416]likely benign2232531602232531602Human1name
405087678CV3080416single nucleotide variantNM_000751.3(CHRND):c.312C>G (p.Pro104=)Lethal multiple pterygium syndrome [RCV003634354]likely benign2232528330232528330Human1name
12833460CV367085single nucleotide variantNM_000751.3(CHRND):c.414C>T (p.Phe138=)Congenital myasthenic syndrome [RCV001140968]|Lethal multiple pterygium syndrome [RCV000549495]|not provided [RCV001704263]benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance2232528561232528561Human2name
597864758CV3742232single nucleotide variantNM_000751.3(CHRND):c.927C>T (p.Ile309=)Lethal multiple pterygium syndrome [RCV005067848]likely benign2232531458232531458Human1name
597830451CV3743014single nucleotide variantNM_000751.3(CHRND):c.333A>G (p.Pro111=)Lethal multiple pterygium syndrome [RCV005062022]likely benign2232528351232528351Human1name
597891099CV3749339single nucleotide variantNM_000751.3(CHRND):c.735G>A (p.Lys245=)Lethal multiple pterygium syndrome [RCV005071123]likely benign2232530054232530054Human1name
597897430CV3806811single nucleotide variantNM_000751.3(CHRND):c.855C>G (p.Leu285=)Lethal multiple pterygium syndrome [RCV005152198]likely benign2232531386232531386Human1name
597883419CV3857916single nucleotide variantNM_000751.3(CHRND):c.993C>G (p.Leu331=)Lethal multiple pterygium syndrome [RCV005199344]likely benign2232531602232531602Human1name
12900314CV405658single nucleotide variantNM_000751.3(CHRND):c.324G>A (p.Val108=)not provided [RCV000482128]uncertain significance2232528342232528342Humanname
12905722CV413590single nucleotide variantNM_000751.3(CHRND):c.89G>A (p.Arg30Gln)Inborn genetic diseases [RCV002525996]|Lethal multiple pterygium syndrome [RCV000802766]|not provided [RCV000487899]uncertain significance2232526565232526565Human2name
13479175CV450501single nucleotide variantNM_000751.3(CHRND):c.582C>T (p.Pro194=)Lethal multiple pterygium syndrome [RCV001460359]likely benign2232528934232528934Human1name
13498781CV450808single nucleotide variantNM_000751.3(CHRND):c.88C>T (p.Arg30Trp)Inborn genetic diseases [RCV004024020]|Lethal multiple pterygium syndrome [RCV000539423]uncertain significance2232526564232526564Human2name
13612047CV517895single nucleotide variantNM_000751.3(CHRND):c.375C>T (p.Ile125=)Lethal multiple pterygium syndrome [RCV002530008]likely benign2232528522232528522Human1name
13612049CV517949single nucleotide variantNM_000751.3(CHRND):c.606T>C (p.Pro202=)Lethal multiple pterygium syndrome [RCV000642125]likely benign2232528958232528958Human1name
15150226CV697407single nucleotide variantNM_000751.3(CHRND):c.705C>T (p.Asp235=)Lethal multiple pterygium syndrome [RCV000945454]likely benign2232530024232530024Human1name
15177287CV697408single nucleotide variantNM_000751.3(CHRND):c.849G>A (p.Ser283=)Lethal multiple pterygium syndrome [RCV001484201]|not provided [RCV004711447]likely benign2232531380232531380Human1name
15185692CV719712single nucleotide variantNM_000751.3(CHRND):c.480C>T (p.Phe160=)Congenital myasthenic syndrome [RCV001140969]|Lethal multiple pterygium syndrome [RCV000886766]likely benign|conflicting interpretations of pathogenicity|uncertain significance2232528627232528627Human2name
15174922CV733268single nucleotide variantNM_000751.3(CHRND):c.813G>A (p.Pro271=)Lethal multiple pterygium syndrome [RCV000906089]|not provided [RCV004711392]likely benign2232530132232530132Human1name
15203128CV747410single nucleotide variantNM_000751.3(CHRND):c.711C>T (p.Thr237=)Lethal multiple pterygium syndrome [RCV001411322]likely benign2232530030232530030Human1name
15116603CV763058single nucleotide variantNM_000751.3(CHRND):c.447C>T (p.Ser149=)Lethal multiple pterygium syndrome [RCV002544560]likely benign2232528594232528594Human1name
15110895CV763059single nucleotide variantNM_000751.3(CHRND):c.882C>T (p.Leu294=)Lethal multiple pterygium syndrome [RCV001394502]likely benign2232531413232531413Human1name
15102849CV781241single nucleotide variantNM_000751.3(CHRND):c.720C>A (p.Leu240=)Lethal multiple pterygium syndrome [RCV000975890]likely benign2232530039232530039Human1name
28888452CV884124single nucleotide variantNM_000751.3(CHRND):c.348G>A (p.Glu116=)Congenital myasthenic syndrome [RCV001138388]|Lethal multiple pterygium syndrome [RCV001138389]uncertain significance2232528366232528366Human2name
126770090CV1003786single nucleotide variantNM_000751.3(CHRND):c.281A>G (p.Glu94Gly)Lethal multiple pterygium syndrome [RCV001322361]uncertain significance2232528299232528299Human1name
126763853CV1003790single nucleotide variantNM_000751.3(CHRND):c.1122G>A (p.Leu374=)Lethal multiple pterygium syndrome [RCV001319409]likely benign|uncertain significance2232534005232534005Human1name
126738048CV1019598single nucleotide variantNM_000751.3(CHRND):c.218T>C (p.Leu73Pro)Congenital myasthenic syndrome 3A [RCV001335440]|Lethal multiple pterygium syndrome [RCV003633585]uncertain significance2232527420232527420Human2name
126912414CV1037161single nucleotide variantNM_000751.3(CHRND):c.133G>A (p.Val45Met)Lethal multiple pterygium syndrome [RCV005094478]|not provided [RCV001356506]uncertain significance2232526609232526609Human1name
127301223CV1112533single nucleotide variantNM_000751.3(CHRND):c.1203C>T (p.Phe401=)Lethal multiple pterygium syndrome [RCV001461332]likely benign2232534086232534086Human1name
127291126CV1112534single nucleotide variantNM_000751.3(CHRND):c.1434G>A (p.Thr478=)Lethal multiple pterygium syndrome [RCV001458627]likely benign2232535192232535192Human1name
127332654CV1133450single nucleotide variantNM_000751.3(CHRND):c.1143G>C (p.Leu381=)Lethal multiple pterygium syndrome [RCV001489642]likely benign2232534026232534026Human1name
127336222CV1133451single nucleotide variantNM_000751.3(CHRND):c.1197C>A (p.Leu399=)Lethal multiple pterygium syndrome [RCV001492024]likely benign2232534080232534080Human1name
150536897CV1314354single nucleotide variantNM_000751.3(CHRND):c.269G>A (p.Trp90Ter)not provided [RCV001780781]likely pathogenic2232528287232528287Humanname
150536898CV1314355single nucleotide variantNM_000751.3(CHRND):c.248G>A (p.Trp83Ter)Congenital myasthenic syndrome 3B [RCV002227557]|Lethal multiple pterygium syndrome [RCV002541179]pathogenic|likely pathogenic2232528266232528266Human2name
151884539CV1366803single nucleotide variantNM_000751.3(CHRND):c.1161C>T (p.Ala387=)Lethal multiple pterygium syndrome [RCV001941749]likely benign2232534044232534044Human1name
151778187CV1370610single nucleotide variantNM_000751.3(CHRND):c.118A>G (p.Lys40Glu)Lethal multiple pterygium syndrome [RCV001864715]uncertain significance2232526594232526594Human1name
151713884CV1379584single nucleotide variantNM_000751.3(CHRND):c.187C>A (p.Leu63Ile)Inborn genetic diseases [RCV002560594]|Lethal multiple pterygium syndrome [RCV001964836]uncertain significance2232526663232526663Human2name
151748357CV1383187single nucleotide variantNM_000751.3(CHRND):c.155T>A (p.Val52Glu)Lethal multiple pterygium syndrome [RCV001947864]uncertain significance2232526631232526631Human1name
151731816CV1389912single nucleotide variantNM_000751.3(CHRND):c.178C>A (p.Leu60Ile)Inborn genetic diseases [RCV003339792]|Lethal multiple pterygium syndrome [RCV001910946]|not provided [RCV003146310]uncertain significance2232526654232526654Human2name
151765995CV1496040single nucleotide variantNM_000751.3(CHRND):c.226A>G (p.Asn76Asp)Lethal multiple pterygium syndrome [RCV001873978]uncertain significance2232527428232527428Human1name
151771305CV1502613single nucleotide variantNM_000751.3(CHRND):c.262C>G (p.Leu88Val)Lethal multiple pterygium syndrome [RCV001896362]uncertain significance2232528280232528280Human1name
152092874CV1567869single nucleotide variantNM_000751.3(CHRND):c.1527C>T (p.Tyr509=)Lethal multiple pterygium syndrome [RCV002212969]likely benign2232535285232535285Human1name
152040649CV1577637single nucleotide variantNM_000751.3(CHRND):c.1161C>G (p.Ala387=)Lethal multiple pterygium syndrome [RCV002107690]likely benign2232534044232534044Human1name
152114749CV1628106single nucleotide variantNM_000751.3(CHRND):c.1155C>T (p.Ser385=)Lethal multiple pterygium syndrome [RCV002197248]likely benign2232534038232534038Human1name
155798544CV1860697single nucleotide variantNM_000751.3(CHRND):c.259C>T (p.Arg87Trp)Lethal multiple pterygium syndrome [RCV002573594]|not provided [RCV002467340]uncertain significance2232528277232528277Human1name
10049670CV190767single nucleotide variantNM_000751.3(CHRND):c.1104A>G (p.Gly368=)not provided [RCV000173710]uncertain significance2232533987232533987Humanname
10050659CV192261single nucleotide variantNM_000751.3(CHRND):c.117C>G (p.Asn39Lys)Congenital myasthenic syndrome [RCV001142716]|Lethal multiple pterygium syndrome [RCV001080688]|not provided [RCV000541223]|not specified [RCV000175643]benign2232526593232526593Human2name
156369412CV1926791single nucleotide variantNM_000751.3(CHRND):c.158A>G (p.Asp53Gly)Lethal multiple pterygium syndrome [RCV002633255]uncertain significance2232526634232526634Human1name
156380587CV1927514single nucleotide variantNM_000751.3(CHRND):c.140A>T (p.His47Leu)Lethal multiple pterygium syndrome [RCV002634234]uncertain significance2232526616232526616Human1name
10052102CV194326single nucleotide variantNM_000751.3(CHRND):c.244G>A (p.Gly82Ser)Lethal multiple pterygium syndrome [RCV003114327]|not provided [RCV000178128]uncertain significance2232528262232528262Human1name
156314077CV2017851single nucleotide variantNM_000751.3(CHRND):c.292A>G (p.Ile98Val)Lethal multiple pterygium syndrome [RCV002671797]uncertain significance2232528310232528310Human1name
156006110CV2046131single nucleotide variantNM_000751.3(CHRND):c.236T>C (p.Ile79Thr)Lethal multiple pterygium syndrome [RCV002794855]|not specified [RCV005406517]uncertain significance2232527438232527438Human1name
156049210CV2059980single nucleotide variantNM_000751.3(CHRND):c.1056G>T (p.Leu352=)Lethal multiple pterygium syndrome [RCV002796708]likely benign2232533939232533939Human1name
156235739CV2072477single nucleotide variantNM_000751.3(CHRND):c.1407G>A (p.Val469=)Lethal multiple pterygium syndrome [RCV002830222]likely benign2232535165232535165Human1name
156100719CV2099255single nucleotide variantNM_000751.3(CHRND):c.148G>A (p.Glu50Lys)Inborn genetic diseases [RCV004066124]|Lethal multiple pterygium syndrome [RCV002913393]uncertain significance2232526624232526624Human2name
156198806CV2153618duplicationNM_000751.3(CHRND):c.316dup (p.Asp106fs)Lethal multiple pterygium syndrome [RCV003006250]pathogenic2232528332232528333Human1name
156080669CV2167390single nucleotide variantNM_000751.3(CHRND):c.1305G>A (p.Leu435=)Lethal multiple pterygium syndrome [RCV003020339]likely benign2232534276232534276Human1name
11637048CV270135single nucleotide variantNM_000751.3(CHRND):c.1125G>A (p.Val375=)Lethal multiple pterygium syndrome [RCV000642122]|not provided [RCV000278066]likely benign|conflicting interpretations of pathogenicity|uncertain significance2232534008232534008Human1name
11578969CV272295single nucleotide variantNM_000751.3(CHRND):c.1530C>T (p.Asn510=)Congenital myasthenic syndrome [RCV000293023]|Lethal multiple pterygium syndrome [RCV001084935]|not provided [RCV000285515]benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance2232535288232535288Human2name
11589323CV288234single nucleotide variantNM_000751.3(CHRND):c.255C>A (p.Asp85Glu)Congenital myasthenic syndrome [RCV000357552]|Lethal multiple pterygium syndrome [RCV001048637]uncertain significance2232528273232528273Human2name
11591277CV288242single nucleotide variantNM_000751.3(CHRND):c.1359C>T (p.Asn453=)Congenital myasthenic syndrome [RCV000327287]|Lethal multiple pterygium syndrome [RCV000381775]conflicting interpretations of pathogenicity|uncertain significance2232534330232534330Human2name
405048736CV2890516single nucleotide variantNM_000751.3(CHRND):c.1428G>A (p.Val476=)Lethal multiple pterygium syndrome [RCV003518695]likely benign2232535186232535186Human1name
405029293CV2895869single nucleotide variantNM_000751.3(CHRND):c.1068G>A (p.Pro356=)Lethal multiple pterygium syndrome [RCV003516660]likely benign2232533951232533951Human1name
405079471CV2942198single nucleotide variantNM_000751.3(CHRND):c.107A>G (p.Lys36Arg)Lethal multiple pterygium syndrome [RCV003633864]uncertain significance2232526583232526583Human1name
405095217CV3015563single nucleotide variantNM_000751.3(CHRND):c.1482C>T (p.Tyr494=)Lethal multiple pterygium syndrome [RCV003635236]likely benign2232535240232535240Human1name
405072585CV3039132single nucleotide variantNM_000751.3(CHRND):c.1494A>G (p.Pro498=)Lethal multiple pterygium syndrome [RCV003633244]likely benign2232535252232535252Human1name
405081236CV3057617single nucleotide variantNM_000751.3(CHRND):c.170C>T (p.Ala57Val)Lethal multiple pterygium syndrome [RCV003634025]uncertain significance2232526646232526646Human1name
404985181CV3183669single nucleotide variantNM_000751.3(CHRND):c.1422G>A (p.Leu474=)Lethal multiple pterygium syndrome [RCV003880946]likely benign2232535180232535180Human1name
405672288CV3297347single nucleotide variantNM_000751.3(CHRND):c.146A>C (p.Glu49Ala)Inborn genetic diseases [RCV004441528]uncertain significance2232526622232526622Human1name
8566721CV33404single nucleotide variantNM_000751.3(CHRND):c.236T>A (p.Ile79Lys)Congenital myasthenic syndrome 3B [RCV000020033]|Lethal multiple pterygium syndrome [RCV003517129]pathogenic|uncertain significance2232527438232527438Human2name
8566722CV33405single nucleotide variantNM_000751.3(CHRND):c.238G>A (p.Glu80Lys)Congenital myasthenic syndrome 3B [RCV000020034]pathogenic2232527440232527440Human1name
8566724CV33407single nucleotide variantNM_000751.3(CHRND):c.234G>A (p.Trp78Ter)Congenital myasthenic syndrome 3A [RCV005409603]|Congenital myasthenic syndrome 3B [RCV002288514]|Lethal multiple pterygium syndrome [RCV000020036]|not provided [RCV001093255]pathogenic2232527436232527436Human3name
8566725CV33408single nucleotide variantNM_000751.3(CHRND):c.283T>C (p.Phe95Leu)Lethal multiple pterygium syndrome [RCV000020037]pathogenic2232528301232528301Human1name
8566727CV33410single nucleotide variantNM_000751.3(CHRND):c.188T>C (p.Leu63Pro)Congenital myasthenic syndrome 3B [RCV000020039]pathogenic2232526664232526664Human1name
12741812CV360837deletionNM_000751.3(CHRND):c.822del (p.Ser274fs)Muscle weakness [RCV000415166]likely pathogenic2232531353232531353Human2name
597845807CV3736336single nucleotide variantNM_000751.3(CHRND):c.209A>C (p.Glu70Ala)Lethal multiple pterygium syndrome [RCV005065684]uncertain significance2232527411232527411Human1name
597908707CV3739033single nucleotide variantNM_000751.3(CHRND):c.1194C>T (p.Asp398=)Lethal multiple pterygium syndrome [RCV005073268]likely benign2232534077232534077Human1name
597975837CV3795955single nucleotide variantNM_000751.3(CHRND):c.192C>G (p.Ile64Met)Lethal multiple pterygium syndrome [RCV005144786]|not provided [RCV005365424]uncertain significance2232526668232526668Human1name
597900062CV3796510single nucleotide variantNM_000751.3(CHRND):c.191T>A (p.Ile64Asn)Lethal multiple pterygium syndrome [RCV005152593]uncertain significance2232526667232526667Human1name
597970889CV3802322single nucleotide variantNM_000751.3(CHRND):c.1230G>A (p.Leu410=)Lethal multiple pterygium syndrome [RCV005141919]likely benign2232534113232534113Human1name
597948550CV3818343single nucleotide variantNM_000751.3(CHRND):c.109G>A (p.Gly37Ser)Lethal multiple pterygium syndrome [RCV005160604]uncertain significance2232526585232526585Human1name
597939565CV3818676single nucleotide variantNM_000751.3(CHRND):c.1470G>A (p.Leu490=)Lethal multiple pterygium syndrome [RCV005158682]likely benign2232535228232535228Human1name
597926957CV3819810single nucleotide variantNM_000751.3(CHRND):c.1269C>T (p.Ser423=)Lethal multiple pterygium syndrome [RCV005156510]likely benign2232534240232534240Human1name
598218451CV3895506deletionNM_000751.3(CHRND):c.556del (p.Asp186fs)Lethal multiple pterygium syndrome [RCV005360365]likely pathogenic2232528907232528907Human1name
12895050CV405656single nucleotide variantNM_000751.3(CHRND):c.127C>T (p.Arg43Trp)Congenital myasthenic syndrome 3A [RCV001332575]|Lethal multiple pterygium syndrome [RCV000805114]|not provided [RCV000485087]pathogenic|likely pathogenic|uncertain significance|no classifications from unflagged records2232526603232526603Human2name
12898696CV405657single nucleotide variantNM_000751.3(CHRND):c.154G>A (p.Val52Met)not provided [RCV000478483]uncertain significance2232526630232526630Humanname
12906303CV414876single nucleotide variantNM_000751.3(CHRND):c.136G>A (p.Ala46Thr)Congenital myasthenic syndrome 3A [RCV001332576]|Lethal multiple pterygium syndrome [RCV003517204]|not provided [RCV000489059]uncertain significance2232526612232526612Human2name
13495958CV450494single nucleotide variantNM_000751.3(CHRND):c.167T>C (p.Leu56Pro)Lethal multiple pterygium syndrome [RCV000560008]uncertain significance2232526643232526643Human1name
13522964CV490958single nucleotide variantNM_000751.3(CHRND):c.1446G>A (p.Val482=)Lethal multiple pterygium syndrome [RCV005091564]|not provided [RCV000592416]likely benign|uncertain significance2232535204232535204Human1name
13612044CV517908single nucleotide variantNM_000751.3(CHRND):c.1233C>T (p.Ala411=)Lethal multiple pterygium syndrome [RCV000642123]likely benign2232534116232534116Human1name
13612037CV517914single nucleotide variantNM_000751.3(CHRND):c.1416C>T (p.Leu472=)Lethal multiple pterygium syndrome [RCV000642119]|not provided [RCV004711259]likely benign2232535174232535174Human1name
13612055CV518034single nucleotide variantNM_000751.3(CHRND):c.1455A>G (p.Thr485=)Congenital myasthenic syndrome [RCV001142920]|Lethal multiple pterygium syndrome [RCV000642129]likely benign|conflicting interpretations of pathogenicity|uncertain significance2232535213232535213Human2name
13820494CV557938single nucleotide variantNM_000751.3(CHRND):c.260G>A (p.Arg87Gln)Inborn genetic diseases [RCV004609493]|Lethal multiple pterygium syndrome [RCV000694902]|not provided [RCV003144526]uncertain significance2232528278232528278Human2name
14741608CV629619single nucleotide variantNM_000751.3(CHRND):c.128G>A (p.Arg43Gln)Lethal multiple pterygium syndrome [RCV000805854]uncertain significance2232526604232526604Human1name
15116182CV691055single nucleotide variantNM_000751.3(CHRND):c.1035G>A (p.Glu345=)Lethal multiple pterygium syndrome [RCV000873278]likely benign2232531644232531644Human1name
15129190CV691056single nucleotide variantNM_000751.3(CHRND):c.1476C>T (p.Gly492=)Lethal multiple pterygium syndrome [RCV000875606]likely benign2232535234232535234Human1name
15190747CV697409single nucleotide variantNM_000751.3(CHRND):c.1452C>A (p.Gly484=)Lethal multiple pterygium syndrome [RCV000954568]likely benign2232535210232535210Human1name
15156977CV719713single nucleotide variantNM_000751.3(CHRND):c.1221G>T (p.Arg407=)Lethal multiple pterygium syndrome [RCV005092613]likely benign2232534104232534104Human1name
15181682CV763060single nucleotide variantNM_000751.3(CHRND):c.1026G>A (p.Val342=)Lethal multiple pterygium syndrome [RCV000930185]likely benign2232531635232531635Human1name
15189402CV763061single nucleotide variantNM_000751.3(CHRND):c.1413C>G (p.Arg471=)Lethal multiple pterygium syndrome [RCV001491044]likely benign2232535171232535171Human1name
15140966CV781242single nucleotide variantNM_000751.3(CHRND):c.1122G>T (p.Leu374=)Lethal multiple pterygium syndrome [RCV001431516]likely benign2232534005232534005Human1name
15102059CV781243single nucleotide variantNM_000751.3(CHRND):c.1497C>G (p.Pro499=)Lethal multiple pterygium syndrome [RCV001398042]likely benign2232535255232535255Human1name
26904157CV825951single nucleotide variantNM_000751.3(CHRND):c.178C>G (p.Leu60Val)Lethal multiple pterygium syndrome [RCV001036403]uncertain significance2232526654232526654Human1name
28886972CV884121single nucleotide variantNM_000751.3(CHRND):c.145G>A (p.Glu49Lys)Congenital myasthenic syndrome [RCV001137968]|Lethal multiple pterygium syndrome [RCV001137967]uncertain significance2232526621232526621Human2name
28886976CV884122single nucleotide variantNM_000751.3(CHRND):c.172C>T (p.Leu58Phe)Congenital myasthenic syndrome [RCV001137970]|Lethal multiple pterygium syndrome [RCV001137969]uncertain significance2232526648232526648Human2name
28888448CV884123single nucleotide variantNM_000751.3(CHRND):c.267G>C (p.Lys89Asn)Congenital myasthenic syndrome [RCV001138387]|Lethal multiple pterygium syndrome [RCV001138386]conflicting interpretations of pathogenicity|uncertain significance2232528285232528285Human2name
38457361CV942675single nucleotide variantNM_000751.3(CHRND):c.160G>A (p.Val54Ile)Inborn genetic diseases [RCV002563707]|Lethal multiple pterygium syndrome [RCV001228646]likely benign|uncertain significance2232526636232526636Human2name
126742986CV988490single nucleotide variantNM_000751.3(CHRND):c.102A>C (p.Gln34His)Lethal multiple pterygium syndrome [RCV001296120]uncertain significance2232526578232526578Human1name
126760877CV1003787single nucleotide variantNM_000751.3(CHRND):c.570C>G (p.Asn190Lys)Lethal multiple pterygium syndrome [RCV001318466]uncertain significance2232528922232528922Human1name
126735181CV1003788single nucleotide variantNM_000751.3(CHRND):c.859G>T (p.Ala287Ser)Lethal multiple pterygium syndrome [RCV001313686]uncertain significance2232531390232531390Human1name
126766458CV1003789single nucleotide variantNM_000751.3(CHRND):c.928G>A (p.Gly310Ser)Lethal multiple pterygium syndrome [RCV001320456]uncertain significance2232531459232531459Human1name
126774945CV1024245single nucleotide variantNM_000751.3(CHRND):c.463G>A (p.Val155Ile)Lethal multiple pterygium syndrome [RCV001347812]uncertain significance2232528610232528610Human1name
126750052CV1024246single nucleotide variantNM_000751.3(CHRND):c.524C>T (p.Thr175Met)Lethal multiple pterygium syndrome [RCV001352171]uncertain significance2232528876232528876Human1name
150550004CV1299774single nucleotide variantNM_000751.3(CHRND):c.404A>G (p.His135Arg)not provided [RCV001752700]uncertain significance2232528551232528551Humanname
150542056CV1302473single nucleotide variantNM_000751.3(CHRND):c.534G>C (p.Glu178Asp)not provided [RCV001761163]uncertain significance2232528886232528886Humanname
151792689CV1341506single nucleotide variantNM_000751.3(CHRND):c.446C>T (p.Ser149Phe)Lethal multiple pterygium syndrome [RCV001866390]uncertain significance2232528593232528593Human1name
151845826CV1341883single nucleotide variantNM_000751.3(CHRND):c.298G>C (p.Val100Leu)Lethal multiple pterygium syndrome [RCV001922099]uncertain significance2232528316232528316Human1name
151735311CV1354690single nucleotide variantNM_000751.3(CHRND):c.641T>C (p.Val214Ala)Inborn genetic diseases [RCV002552869]|Lethal multiple pterygium syndrome [RCV001892686]uncertain significance2232529960232529960Human2name
151712048CV1401620single nucleotide variantNM_000751.3(CHRND):c.361G>C (p.Gly121Arg)Lethal multiple pterygium syndrome [RCV001964495]uncertain significance2232528508232528508Human1name
151811537CV1417482single nucleotide variantNM_000751.3(CHRND):c.461C>T (p.Ser154Phe)Lethal multiple pterygium syndrome [RCV002029017]uncertain significance2232528608232528608Human1name
151775606CV1424284single nucleotide variantNM_000751.3(CHRND):c.314C>T (p.Pro105Leu)Lethal multiple pterygium syndrome [RCV002025778]uncertain significance2232528332232528332Human1name
151779424CV1472381single nucleotide variantNM_000751.3(CHRND):c.494G>T (p.Cys165Phe)Lethal multiple pterygium syndrome [RCV002026118]uncertain significance2232528641232528641Human1name
151818335CV1482094single nucleotide variantNM_000751.3(CHRND):c.899C>A (p.Pro300His)Lethal multiple pterygium syndrome [RCV002029642]|not specified [RCV004770375]uncertain significance2232531430232531430Human1name
151795738CV1482867single nucleotide variantNM_000751.3(CHRND):c.962C>A (p.Thr321Asn)Lethal multiple pterygium syndrome [RCV002047523]uncertain significance2232531571232531571Human1name
151739555CV1490414single nucleotide variantNM_000751.3(CHRND):c.983T>A (p.Val328Asp)Lethal multiple pterygium syndrome [RCV001985105]uncertain significance2232531592232531592Human1name
151714957CV1492747single nucleotide variantNM_000751.3(CHRND):c.601G>A (p.Asp201Asn)Lethal multiple pterygium syndrome [RCV001890141]|Lethal multiple pterygium syndrome [RCV002503462]uncertain significance2232528953232528953Human1name
151879136CV1506191single nucleotide variantNM_000751.3(CHRND):c.723C>G (p.Ile241Met)Lethal multiple pterygium syndrome [RCV001886225]uncertain significance2232530042232530042Human1name
153346697CV1692236single nucleotide variantNM_000751.3(CHRND):c.577T>C (p.Tyr193His)not provided [RCV002272084]uncertain significance2232528929232528929Humanname
155268221CV1701663single nucleotide variantNM_000751.3(CHRND):c.826G>A (p.Glu276Lys)Congenital myasthenic syndrome 3B [RCV002283893]uncertain significance2232531357232531357Human1name
155643699CV1708054single nucleotide variantNM_000751.3(CHRND):c.961A>C (p.Thr321Pro)Congenital myasthenic syndrome 3B [RCV002289515]uncertain significance2232531570232531570Human1name
155995728CV1875731single nucleotide variantNM_000751.3(CHRND):c.967G>T (p.Val323Phe)Inborn genetic diseases [RCV003051028]|Lethal multiple pterygium syndrome [RCV003076335]uncertain significance2232531576232531576Human2name
156389320CV1875941single nucleotide variantNM_000751.3(CHRND):c.369C>G (p.Phe123Leu)Lethal multiple pterygium syndrome [RCV003051144]|not provided [RCV003143456]uncertain significance2232528516232528516Human1name
156393871CV1876254single nucleotide variantNM_000751.3(CHRND):c.628G>T (p.Glu210Ter)Lethal multiple pterygium syndrome [RCV003068350]pathogenic2232529947232529947Human1name
156358819CV1891408deletionNM_000751.3(CHRND):c.1107del (p.Ser370fs)Congenital myasthenic syndrome 3B [RCV003340624]|Lethal multiple pterygium syndrome [RCV003091557]pathogenic|likely pathogenic2232533988232533988Human2name
156029023CV1903176single nucleotide variantNM_000751.3(CHRND):c.912G>A (p.Met304Ile)Lethal multiple pterygium syndrome [RCV003100563]uncertain significance2232531443232531443Human1name
156179590CV1924407single nucleotide variantNM_000751.3(CHRND):c.391G>C (p.Val131Leu)Lethal multiple pterygium syndrome [RCV002624994]uncertain significance2232528538232528538Human1name
156292341CV1926577single nucleotide variantNM_000751.3(CHRND):c.409G>A (p.Gly137Ser)Lethal multiple pterygium syndrome [RCV002628865]uncertain significance2232528556232528556Human1name
156373359CV1953512single nucleotide variantNM_000751.3(CHRND):c.304C>A (p.Arg102Ser)Lethal multiple pterygium syndrome [RCV002582601]uncertain significance2232528322232528322Human1name
10052970CV195596single nucleotide variantNM_000751.3(CHRND):c.805T>C (p.Tyr269His)Lethal multiple pterygium syndrome [RCV001852236]|not provided [RCV000179785]uncertain significance2232530124232530124Human1name
10053182CV195909single nucleotide variantNM_000751.3(CHRND):c.862C>G (p.Gln288Glu)Congenital myasthenic syndrome [RCV001142817]|Lethal multiple pterygium syndrome [RCV000987055]|not provided [RCV000224625]|not specified [RCV000180184]benign|likely benign|conflicting interpretations of pathogenicity2232531393232531393Human3name
10053182CV195909single nucleotide variantNM_000751.3(CHRND):c.862C>G (p.Gln288Glu)Congenital myasthenic syndrome [RCV001142817]|Lethal multiple pterygium syndrome [RCV000987055]|not provided [RCV000224625]|not specified [RCV000180184]benign|likely benign|conflicting interpretations of pathogenicity2232531393232531394Human3name
156167984CV1959991single nucleotide variantNM_000751.3(CHRND):c.658G>A (p.Val220Ile)Lethal multiple pterygium syndrome [RCV002573727]uncertain significance2232529977232529977Human1name
10053391CV196199single nucleotide variantNM_000751.3(CHRND):c.962C>T (p.Thr321Ile)not provided [RCV000180529]uncertain significance2232531571232531571Humanname
156383199CV1979474single nucleotide variantNM_000751.3(CHRND):c.520T>C (p.Tyr174His)Lethal multiple pterygium syndrome [RCV002634429]uncertain significance2232528872232528872Human1name
156346828CV1989152single nucleotide variantNM_000751.3(CHRND):c.929G>A (p.Gly310Asp)Lethal multiple pterygium syndrome [RCV002631721]uncertain significance2232531460232531460Human1name
156184100CV1997667single nucleotide variantNM_000751.3(CHRND):c.710C>T (p.Thr237Ile)Lethal multiple pterygium syndrome [RCV002643117]uncertain significance2232530029232530029Human1name
156145157CV2002947single nucleotide variantNM_000751.3(CHRND):c.571C>G (p.Arg191Gly)Lethal multiple pterygium syndrome [RCV002663712]uncertain significance2232528923232528923Human1name
156240681CV2028274single nucleotide variantNM_000751.3(CHRND):c.736C>T (p.Pro246Ser)Lethal multiple pterygium syndrome [RCV002745651]uncertain significance2232530055232530055Human1name
155905254CV2031398single nucleotide variantNM_000751.3(CHRND):c.664G>A (p.Val222Met)Lethal multiple pterygium syndrome [RCV002726431]uncertain significance2232529983232529983Human1name
156018916CV2046890single nucleotide variantNM_000751.3(CHRND):c.536T>C (p.Ile179Thr)Lethal multiple pterygium syndrome [RCV002780551]uncertain significance2232528888232528888Human1name
156027487CV2108920single nucleotide variantNM_000751.3(CHRND):c.839T>C (p.Val280Ala)Lethal multiple pterygium syndrome [RCV002909909]uncertain significance2232531370232531370Human1name
156117748CV2117623single nucleotide variantNM_000751.3(CHRND):c.938T>C (p.Leu313Pro)Lethal multiple pterygium syndrome [RCV002953377]uncertain significance2232531547232531547Human1name
155937743CV2125833single nucleotide variantNM_000751.3(CHRND):c.443G>A (p.Arg148His)Inborn genetic diseases [RCV004068160]|Lethal multiple pterygium syndrome [RCV002971069]uncertain significance2232528590232528590Human2name
156261951CV2143344single nucleotide variantNM_000751.3(CHRND):c.440T>C (p.Phe147Ser)Lethal multiple pterygium syndrome [RCV003008955]uncertain significance2232528587232528587Human1name
156342605CV2175041single nucleotide variantNM_000751.3(CHRND):c.423G>C (p.Trp141Cys)Lethal multiple pterygium syndrome [RCV003047821]likely pathogenic2232528570232528570Human1name
156280824CV2252277single nucleotide variantNM_000751.3(CHRND):c.940C>A (p.Leu314Ile)Inborn genetic diseases [RCV002793071]uncertain significance2232531549232531549Human1name
155968976CV2339370single nucleotide variantNM_000751.3(CHRND):c.965T>C (p.Met322Thr)Inborn genetic diseases [RCV002972806]|Lethal multiple pterygium syndrome [RCV005099908]uncertain significance2232531574232531574Human2name
243055374CV2407392single nucleotide variantNM_000751.3(CHRND):c.572G>A (p.Arg191His)Inborn genetic diseases [RCV005323392]|Lethal multiple pterygium syndrome [RCV003633678]|not provided [RCV003144942]uncertain significance2232528924232528924Human2name
243055377CV2407393single nucleotide variantNM_000751.3(CHRND):c.656G>T (p.Arg219Met)not provided [RCV003144943]uncertain significance2232529975232529975Humanname
243055388CV2407396single nucleotide variantNM_000751.3(CHRND):c.822T>G (p.Ser274Arg)Lethal multiple pterygium syndrome [RCV003633679]|not provided [RCV003144946]uncertain significance2232531353232531353Human1name
11550372CV250661single nucleotide variantNM_000751.3(CHRND):c.817G>A (p.Asp273Asn)CHRND-related disorder [RCV003891859]|Lethal multiple pterygium syndrome [RCV000551038]|not provided [RCV001711662]likely benign|conflicting interpretations of pathogenicity|uncertain significance2232530136232530136Human1name , trait , alternate_id
11578783CV265660single nucleotide variantNM_000751.3(CHRND):c.919C>T (p.Pro307Ser)Congenital myasthenic syndrome [RCV000289236]|Lethal multiple pterygium syndrome [RCV000764381]|Lethal multiple pterygium syndrome [RCV001081973]|not provided [RCV000724895]likely benign|conflicting interpretations of pathogenicity|uncertain significance2232531450232531450Human2name
11579085CV267375single nucleotide variantNM_000751.3(CHRND):c.727C>T (p.Arg243Cys)Congenital myasthenic syndrome 3A [RCV002227466]|Congenital myasthenic syndrome [RCV000295199]|Lethal multiple pterygium syndrome [RCV000526402]|Lethal multiple pterygium syndrome [RCV000764380]|not provided [RCV000285578]|not specified [RCV001731557]pathogenic|likely benign|conflicting interpretations of pathogenicity|uncertain significance2232530046232530046Human3name
401764433CV2725648single nucleotide variantNM_000751.3(CHRND):c.982G>A (p.Val328Ile)Inborn genetic diseases [RCV003258562]uncertain significance2232531591232531591Human1name
11641697CV274258single nucleotide variantNM_000751.3(CHRND):c.497C>T (p.Ser166Phe)Congenital myasthenic syndrome 3A [RCV001838614]|Inborn genetic diseases [RCV004021296]|Lethal multiple pterygium syndrome [RCV005090401]|not provided [RCV000361331]uncertain significance2232528644232528644Human3name
401903619CV2800047single nucleotide variantNM_000751.3(CHRND):c.761T>C (p.Leu254Pro)CHRND-related disorder [RCV003394493]uncertain significance2232530080232530080Humanname , trait , alternate_id
401923755CV2803384single nucleotide variantNM_000751.3(CHRND):c.481G>C (p.Asp161His)CHRND-related disorder [RCV003404530]uncertain significance2232528628232528628Humanname , trait , alternate_id
401962546CV2845192single nucleotide variantNM_000751.3(CHRND):c.739C>T (p.Leu247Phe)not provided [RCV003482653]uncertain significance2232530058232530058Humanname
405045407CV2884639single nucleotide variantNM_000751.3(CHRND):c.718C>T (p.Leu240Phe)Lethal multiple pterygium syndrome [RCV003518388]uncertain significance2232530037232530037Human1name
11582405CV288667single nucleotide variantNM_000751.3(CHRND):c.442C>T (p.Arg148Cys)Congenital myasthenic syndrome [RCV000361511]|Lethal multiple pterygium syndrome [RCV000642114]|not provided [RCV003144222]uncertain significance2232528589232528589Human2name
11593785CV288669single nucleotide variantNM_000751.3(CHRND):c.893G>A (p.Arg298His)Congenital myasthenic syndrome [RCV000352373]|Lethal multiple pterygium syndrome [RCV000808385]|not provided [RCV003144223]conflicting interpretations of pathogenicity|uncertain significance2232531424232531424Human2name
11588350CV288670single nucleotide variantNM_000751.3(CHRND):c.920C>T (p.Pro307Leu)Congenital myasthenic syndrome [RCV000393354]|Lethal multiple pterygium syndrome [RCV000302411]uncertain significance2232531451232531451Human2name
405031872CV2919063single nucleotide variantNM_000751.3(CHRND):c.772G>A (p.Val258Met)Lethal multiple pterygium syndrome [RCV003516906]uncertain significance2232530091232530091Human1name
405088444CV2972224single nucleotide variantNM_000751.3(CHRND):c.725T>C (p.Ile242Thr)Lethal multiple pterygium syndrome [RCV003634619]uncertain significance2232530044232530044Human1name
405088381CV2975309single nucleotide variantNM_000751.3(CHRND):c.492C>G (p.Asn164Lys)Lethal multiple pterygium syndrome [RCV003634613]uncertain significance2232528639232528639Human1name
405136203CV3007697single nucleotide variantNM_000751.3(CHRND):c.364T>C (p.Ser122Pro)Lethal multiple pterygium syndrome [RCV003635364]uncertain significance2232528511232528511Human1name
405082093CV3058907single nucleotide variantNM_000751.3(CHRND):c.731G>A (p.Arg244His)Lethal multiple pterygium syndrome [RCV003634105]uncertain significance2232530050232530050Human1name
405082270CV3062198single nucleotide variantNM_000751.3(CHRND):c.982G>T (p.Val328Phe)Lethal multiple pterygium syndrome [RCV003634121]uncertain significance2232531591232531591Human1name
405082702CV3067673single nucleotide variantNM_000751.3(CHRND):c.340G>C (p.Val114Leu)Lethal multiple pterygium syndrome [RCV003634026]uncertain significance2232528358232528358Human1name
405087585CV3072035single nucleotide variantNM_000751.3(CHRND):c.691C>T (p.Pro231Ser)Lethal multiple pterygium syndrome [RCV003634343]uncertain significance2232530010232530010Human1name
405087117CV3073986single nucleotide variantNM_000751.3(CHRND):c.709A>T (p.Thr237Ser)Lethal multiple pterygium syndrome [RCV003634264]uncertain significance2232530028232530028Human1name
404995544CV3129230single nucleotide variantNM_000751.3(CHRND):c.481G>A (p.Asp161Asn)Lethal multiple pterygium syndrome [RCV003827619]uncertain significance2232528628232528628Human1name
405249763CV3170078single nucleotide variantNM_000751.3(CHRND):c.385T>C (p.Cys129Arg)Lethal multiple pterygium syndrome [RCV003869707]uncertain significance2232528532232528532Human1name
405672299CV3297349single nucleotide variantNM_000751.3(CHRND):c.595A>G (p.Ile199Val)Inborn genetic diseases [RCV004441530]uncertain significance2232528947232528947Human1name
405672304CV3297350single nucleotide variantNM_000751.3(CHRND):c.658G>T (p.Val220Phe)Inborn genetic diseases [RCV004441531]uncertain significance2232529977232529977Human1name
8566719CV33402single nucleotide variantNM_000751.3(CHRND):c.866C>T (p.Ser289Phe)Congenital myasthenic syndrome 3A [RCV000020031]|Lethal multiple pterygium syndrome [RCV001218475]pathogenic|likely pathogenic2232531397232531397Human2name
8566720CV33403single nucleotide variantNM_000751.3(CHRND):c.812C>A (p.Pro271Gln)Congenital myasthenic syndrome 3B [RCV000020032]pathogenic2232530131232530131Human1name
407428683CV3410352single nucleotide variantNM_000751.3(CHRND):c.704A>G (p.Asp235Gly)not specified [RCV004587959]uncertain significance2232530023232530023Humanname
12740920CV359351single nucleotide variantNM_000751.3(CHRND):c.946G>A (p.Gly316Ser)Inborn genetic diseases [RCV004022175]|Lethal multiple pterygium syndrome [RCV000532746]|not provided [RCV003144251]|not specified [RCV000413500]likely benign|uncertain significance2232531555232531555Human2name
597632081CV3653413single nucleotide variantNM_000751.3(CHRND):c.868G>A (p.Val290Ile)Inborn genetic diseases [RCV004967840]uncertain significance2232531399232531399Human1name
597916542CV3737423single nucleotide variantNM_000751.3(CHRND):c.454C>T (p.Pro152Ser)Lethal multiple pterygium syndrome [RCV005074212]uncertain significance2232528601232528601Human1name
597949707CV3746011single nucleotide variantNM_000751.3(CHRND):c.991C>G (p.Leu331Val)Lethal multiple pterygium syndrome [RCV005079195]uncertain significance2232531600232531600Human1name
597924181CV3748461single nucleotide variantNM_000751.3(CHRND):c.431C>T (p.Pro144Leu)Lethal multiple pterygium syndrome [RCV005075108]uncertain significance2232528578232528578Human1name
597859343CV3769939single nucleotide variantNM_000751.3(CHRND):c.565G>A (p.Glu189Lys)Lethal multiple pterygium syndrome [RCV005105790]uncertain significance2232528917232528917Human1name
597933777CV3810788single nucleotide variantNM_000751.3(CHRND):c.398T>A (p.Val133Asp)Lethal multiple pterygium syndrome [RCV005157497]uncertain significance2232528545232528545Human1name
597940293CV3836589single nucleotide variantNM_000751.3(CHRND):c.351C>A (p.Asn117Lys)Lethal multiple pterygium syndrome [RCV005187610]uncertain significance2232528369232528369Human1name
597890940CV3856503single nucleotide variantNM_000751.3(CHRND):c.484T>C (p.Trp162Arg)Lethal multiple pterygium syndrome [RCV005200568]uncertain significance2232528631232528631Human1name
597888418CV3859494single nucleotide variantNM_000751.3(CHRND):c.787A>G (p.Met263Val)Lethal multiple pterygium syndrome [RCV005200150]uncertain significance2232530106232530106Human1name
597929790CV3862190single nucleotide variantNM_000751.3(CHRND):c.583G>A (p.Val195Met)Lethal multiple pterygium syndrome [RCV005206431]uncertain significance2232528935232528935Human1name
616933141CV4012663single nucleotide variantNM_000751.3(CHRND):c.756C>A (p.Asn252Lys)Congenital myasthenic syndrome 3A [RCV005410123]uncertain significance2232530075232530075Human1name
616933140CV4012664single nucleotide variantNM_000751.3(CHRND):c.887C>T (p.Ser296Phe)Congenital myasthenic syndrome 3A [RCV005410124]uncertain significance2232531418232531418Human1name
12899086CV405660single nucleotide variantNM_000751.3(CHRND):c.998T>A (p.Ile333Asn)not provided [RCV000479403]uncertain significance2232531607232531607Humanname
13496861CV450497single nucleotide variantNM_000751.3(CHRND):c.389A>G (p.Asn130Ser)Lethal multiple pterygium syndrome [RCV000560649]uncertain significance2232528536232528536Human1name
13500774CV450509single nucleotide variantNM_000751.3(CHRND):c.991C>T (p.Leu331Phe)Lethal multiple pterygium syndrome [RCV000540628]uncertain significance2232531600232531600Human1name
13504761CV450638single nucleotide variantNM_000751.3(CHRND):c.305G>A (p.Arg102His)Inborn genetic diseases [RCV002526141]|Lethal multiple pterygium syndrome [RCV000543697]|not provided [RCV003144339]uncertain significance2232528323232528323Human2name
13497370CV450640single nucleotide variantNM_000751.3(CHRND):c.728G>A (p.Arg243His)Lethal multiple pterygium syndrome [RCV000538556]|not provided [RCV001357055]likely benign|uncertain significance2232530047232530047Human1name
13612018CV517902single nucleotide variantNM_000751.3(CHRND):c.769T>C (p.Cys257Arg)CHRND-related disorder [RCV005407835]|Lethal multiple pterygium syndrome [RCV000642109]pathogenic|likely pathogenic|uncertain significance2232530088232530088Human1name , trait , alternate_id
13612023CV517961single nucleotide variantNM_000751.3(CHRND):c.697C>T (p.Arg233Cys)Congenital myasthenic syndrome 3B [RCV002227485]|Inborn genetic diseases [RCV002530007]|Lethal multiple pterygium syndrome [RCV000642112]uncertain significance2232530016232530016Human3name
13612012CV518029single nucleotide variantNM_000751.3(CHRND):c.956T>C (p.Leu319Pro)Lethal multiple pterygium syndrome [RCV000642107]uncertain significance2232531565232531565Human1name
13811804CV557999single nucleotide variantNM_000751.3(CHRND):c.647G>A (p.Arg216Gln)Lethal multiple pterygium syndrome [RCV000703280]uncertain significance2232529966232529966Human1name
13814297CV559177single nucleotide variantNM_000751.3(CHRND):c.646C>T (p.Arg216Trp)CHRND-related disorder [RCV003945712]|Lethal multiple pterygium syndrome [RCV000690802]|not provided [RCV003144510]likely benign|uncertain significance2232529965232529965Human1name , trait , alternate_id
13811741CV559179single nucleotide variantNM_000751.3(CHRND):c.904A>C (p.Thr302Pro)Lethal multiple pterygium syndrome [RCV000703239]uncertain significance2232531435232531435Human1name
13809038CV576669single nucleotide variantNM_000751.3(CHRND):c.389A>T (p.Asn130Ile)Lethal multiple pterygium syndrome [RCV001039702]|not provided [RCV000711200]pathogenic|likely pathogenic|uncertain significance2232528536232528536Human1name
13808907CV576670single nucleotide variantNM_000751.3(CHRND):c.730C>T (p.Arg244Cys)Lethal multiple pterygium syndrome [RCV001039701]|not provided [RCV000711201]pathogenic|likely pathogenic|uncertain significance2232530049232530049Human1name
13827516CV578401single nucleotide variantNM_000751.3(CHRND):c.988G>A (p.Val330Met)Lethal multiple pterygium syndrome [RCV000714579]uncertain significance2232531597232531597Human1name
14729107CV629620single nucleotide variantNM_000751.3(CHRND):c.314C>G (p.Pro105Arg)Lethal multiple pterygium syndrome [RCV000816817]uncertain significance2232528332232528332Human1name
14724233CV629622single nucleotide variantNM_000751.3(CHRND):c.571C>T (p.Arg191Cys)CHRND-related disorder [RCV003413640]|Lethal multiple pterygium syndrome [RCV000814697]uncertain significance2232528923232528923Human1name , trait , alternate_id
15040415CV680092single nucleotide variantNM_000751.3(CHRND):c.452G>C (p.Cys151Ser)Fetal akinesia deformation sequence 1 [RCV000855459]likely pathogenic2232528599232528599Human3name
15040473CV682118single nucleotide variantNM_000751.3(CHRND):c.880C>T (p.Leu294Phe)Centronuclear myopathy [RCV004586959]|Lethal multiple pterygium syndrome [RCV001858525]|Slow-Channel Congenital Myasthenia Syndrome [RCV000855540]|not provided [RCV004721652]pathogenic|uncertain significance2232531411232531411Human4name
15135261CV691054single nucleotide variantNM_000751.3(CHRND):c.611G>T (p.Gly204Val)Lethal multiple pterygium syndrome [RCV000876612]benign2232528963232528963Human1name
21071117CV790209insertionNM_000751.3(CHRND):c.199-90_199-89insAAGALethal multiple pterygium syndrome [RCV000987054]|not provided [RCV001692333]benign2232527310232527311Human1name
8625319CV80438single nucleotide variantNM_000751.3(CHRND):c.650C>T (p.Pro217Leu)Lethal multiple pterygium syndrome [RCV003066920]uncertain significance|not provided2232529969232529969Human1name
26894398CV825952single nucleotide variantNM_000751.3(CHRND):c.380A>G (p.Tyr127Cys)Lethal multiple pterygium syndrome [RCV001069307]|not provided [RCV003145337]uncertain significance2232528527232528527Human1name
26906697CV825953single nucleotide variantNM_000751.3(CHRND):c.415G>A (p.Val139Met)Inborn genetic diseases [RCV003346263]|Lethal multiple pterygium syndrome [RCV001037592]|not provided [RCV003156303]likely benign|uncertain significance2232528562232528562Human2name
26886969CV825954single nucleotide variantNM_000751.3(CHRND):c.449C>G (p.Ser150Cys)Lethal multiple pterygium syndrome [RCV001044566]uncertain significance2232528596232528596Human1name
26923017CV825955single nucleotide variantNM_000751.3(CHRND):c.625G>A (p.Gly209Arg)Inborn genetic diseases [RCV004977970]|Lethal multiple pterygium syndrome [RCV001063144]uncertain significance2232529944232529944Human2name
26916532CV825956single nucleotide variantNM_000751.3(CHRND):c.823G>A (p.Gly275Ser)Lethal multiple pterygium syndrome [RCV001042032]|Lethal multiple pterygium syndrome [RCV004731082]|not provided [RCV003145273]likely benign|uncertain significance2232531354232531354Human1name
26897572CV825957single nucleotide variantNM_000751.3(CHRND):c.890A>G (p.Lys297Arg)Lethal multiple pterygium syndrome [RCV001070368]uncertain significance2232531421232531421Human1name
26907767CV825958single nucleotide variantNM_000751.3(CHRND):c.892C>T (p.Arg298Cys)Inborn genetic diseases [RCV003160233]|Lethal multiple pterygium syndrome [RCV001038113]|not provided [RCV003490016]uncertain significance2232531423232531423Human2name
38486635CV922637single nucleotide variantNM_000751.3(CHRND):c.662A>G (p.Asn221Ser)Lethal multiple pterygium syndrome [RCV001220388]uncertain significance2232529981232529981Human1name
38470438CV931201single nucleotide variantNM_000751.3(CHRND):c.304C>T (p.Arg102Cys)Lethal multiple pterygium syndrome [RCV001213565]|not provided [RCV004695187]uncertain significance2232528322232528322Human1name
38458389CV931202single nucleotide variantNM_000751.3(CHRND):c.391G>A (p.Val131Met)Lethal multiple pterygium syndrome [RCV001211398]uncertain significance2232528538232528538Human1name
38485105CV942676single nucleotide variantNM_000751.3(CHRND):c.698G>A (p.Arg233His)Inborn genetic diseases [RCV004609690]|Lethal multiple pterygium syndrome [RCV001236619]likely benign|uncertain significance2232530017232530017Human2name
38482441CV942678deletionNM_000751.3(CHRND):c.1367del (p.Asn456fs)Lethal multiple pterygium syndrome [RCV001235529]|not provided [RCV001780171]likely pathogenic|uncertain significance2232534337232534337Human1name
38492240CV952984single nucleotide variantNM_000751.3(CHRND):c.361G>A (p.Gly121Ser)Lethal multiple pterygium syndrome [RCV001239961]uncertain significance2232528508232528508Human1name
126743667CV988491single nucleotide variantNM_000751.3(CHRND):c.529A>G (p.Lys177Glu)Lethal multiple pterygium syndrome [RCV001296224]uncertain significance2232528881232528881Human1name
126765089CV988493single nucleotide variantNM_000751.3(CHRND):c.626G>A (p.Gly209Glu)Lethal multiple pterygium syndrome [RCV001301352]uncertain significance2232529945232529945Human1name
126734881CV988497duplicationNM_000751.3(CHRND):c.1417dup (p.Cys473fs)Lethal multiple pterygium syndrome [RCV001304516]|not provided [RCV003234034]uncertain significance2232535174232535175Human1name
126738044CV1019599single nucleotide variantNM_000751.3(CHRND):c.1400G>T (p.Arg467Leu)Lethal multiple pterygium syndrome [RCV001335439]uncertain significance2232535158232535158Human1name
126726005CV1024247single nucleotide variantNM_000751.3(CHRND):c.1033G>C (p.Glu345Gln)Lethal multiple pterygium syndrome [RCV001348329]uncertain significance2232531642232531642Human1name
126916879CV1041202single nucleotide variantNM_000751.3(CHRND):c.1553A>G (p.Ter518Trp)Lethal multiple pterygium syndrome [RCV001360841]uncertain significance2232535311232535311Human1name
150484379CV1250007insertionNM_000751.3(CHRND):c.1048-144_1048-143insGnot provided [RCV001673620]benign2232533787232533788Humanname
150529174CV1288720single nucleotide variantNM_000751.3(CHRND):c.1200G>C (p.Met400Ile)Lethal multiple pterygium syndrome [RCV002032691]|not provided [RCV001727188]uncertain significance2232534083232534083Human1name
150529778CV1293182single nucleotide variantNM_000751.3(CHRND):c.1328A>G (p.Asn443Ser)not provided [RCV001756401]uncertain significance2232534299232534299Humanname
150548717CV1294473single nucleotide variantNM_000751.3(CHRND):c.1236G>T (p.Arg412Ser)not provided [RCV001751965]uncertain significance2232534119232534119Humanname
150542522CV1302627single nucleotide variantNM_000751.3(CHRND):c.1187G>T (p.Arg396Leu)not provided [RCV001761317]uncertain significance2232534070232534070Humanname
150536901CV1314356single nucleotide variantNM_000751.3(CHRND):c.1006C>T (p.Arg336Ter)Lethal multiple pterygium syndrome [RCV005095129]|not provided [RCV001780783]pathogenic|likely pathogenic|conflicting interpretations of pathogenicity2232531615232531615Human1name
151818294CV1337603single nucleotide variantNM_000751.3(CHRND):c.1515C>A (p.Asp505Glu)Lethal multiple pterygium syndrome [RCV001919309]uncertain significance2232535273232535273Human1name
151726291CV1339673single nucleotide variantNM_000751.3(CHRND):c.1187G>A (p.Arg396His)Lethal multiple pterygium syndrome [RCV002004301]uncertain significance2232534070232534070Human1name
151831407CV1343632single nucleotide variantNM_000751.3(CHRND):c.1530C>G (p.Asn510Lys)Lethal multiple pterygium syndrome [RCV001920527]uncertain significance2232535288232535288Human1name
151876438CV1360238single nucleotide variantNM_000751.3(CHRND):c.1531G>A (p.Val511Met)Lethal multiple pterygium syndrome [RCV001907123]uncertain significance2232535289232535289Human1name
151881848CV1375745single nucleotide variantNM_000751.3(CHRND):c.1552T>G (p.Ter518Glu)Lethal multiple pterygium syndrome [RCV001961808]uncertain significance2232535310232535310Human1name
151732790CV1378566single nucleotide variantNM_000751.3(CHRND):c.1554G>T (p.Ter518Tyr)Lethal multiple pterygium syndrome [RCV002041379]uncertain significance2232535312232535312Human1name
151845172CV1381604single nucleotide variantNM_000751.3(CHRND):c.1235G>A (p.Arg412Lys)Inborn genetic diseases [RCV004611953]|Lethal multiple pterygium syndrome [RCV001881846]uncertain significance2232534118232534118Human2name
151833970CV1396457single nucleotide variantNM_000751.3(CHRND):c.1255C>T (p.Arg419Trp)Inborn genetic diseases [RCV002550293]|Lethal multiple pterygium syndrome [RCV001902089]uncertain significance2232534226232534226Human2name
151866924CV1447557single nucleotide variantNM_000751.3(CHRND):c.1535A>G (p.Gln512Arg)Lethal multiple pterygium syndrome [RCV001924719]uncertain significance2232535293232535293Human1name
151809930CV1476497single nucleotide variantNM_000751.3(CHRND):c.1199T>C (p.Met400Thr)Lethal multiple pterygium syndrome [RCV001899846]uncertain significance2232534082232534082Human1name
151881514CV1499947single nucleotide variantNM_000751.3(CHRND):c.1411C>G (p.Arg471Gly)Lethal multiple pterygium syndrome [RCV001886553]uncertain significance2232535169232535169Human1name
10042896CV187685single nucleotide variantNM_000751.3(CHRND):c.1204G>A (p.Glu402Lys)Congenital myasthenic syndrome 3B [RCV002227450]|Congenital myasthenic syndrome 3C [RCV000170317]|Lethal multiple pterygium syndrome [RCV001365568]|not provided [RCV002510806]pathogenic|likely pathogenic|uncertain significance|not provided2232534087232534087Human3name
156283035CV1877205single nucleotide variantNM_000751.3(CHRND):c.1186C>T (p.Arg396Cys)Lethal multiple pterygium syndrome [RCV003061134]|not provided [RCV003143462]uncertain significance2232534069232534069Human1name
156136787CV1902052single nucleotide variantNM_000751.3(CHRND):c.1298A>G (p.Asn433Ser)Lethal multiple pterygium syndrome [RCV003082044]uncertain significance2232534269232534269Human1name
10049669CV190766single nucleotide variantNM_000751.3(CHRND):c.1105C>T (p.Pro369Ser)Congenital myasthenic syndrome 3A [RCV001198096]|Congenital myasthenic syndrome [RCV001138073]|Lethal multiple pterygium syndrome [RCV001079470]|not provided [RCV000224550]|not specified [RCV000173709]benign|likely benign|uncertain significance2232533988232533988Human3name
10049940CV191169single nucleotide variantNM_000751.3(CHRND):c.1400G>A (p.Arg467His)CHRND-related disorder [RCV003891709]|Congenital myasthenic syndrome [RCV001142919]|Lethal multiple pterygium syndrome [RCV000530315]|not provided [RCV001657944]|not specified [RCV000174260]benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance2232535158232535158Human2name , trait , alternate_id
156404596CV1916641single nucleotide variantNM_000751.3(CHRND):c.1203C>G (p.Phe401Leu)Lethal multiple pterygium syndrome [RCV002606134]|not provided [RCV003143501]uncertain significance2232534086232534086Human1name
156449317CV1944584single nucleotide variantNM_000751.3(CHRND):c.1238G>T (p.Arg413Leu)Lethal multiple pterygium syndrome [RCV003121436]uncertain significance2232534121232534121Human1name
156416027CV1966408single nucleotide variantNM_000751.3(CHRND):c.1151T>A (p.Ile384Asn)Lethal multiple pterygium syndrome [RCV002589489]uncertain significance2232534034232534034Human1name
156146218CV1969955single nucleotide variantNM_000751.3(CHRND):c.1083G>C (p.Met361Ile)Lethal multiple pterygium syndrome [RCV002593998]uncertain significance2232533966232533966Human1name
156109928CV2002243single nucleotide variantNM_000751.3(CHRND):c.1325C>T (p.Ala442Val)Lethal multiple pterygium syndrome [RCV002639897]uncertain significance2232534296232534296Human1name
156099010CV2009626single nucleotide variantNM_000751.3(CHRND):c.1433C>T (p.Thr478Met)Lethal multiple pterygium syndrome [RCV002706596]uncertain significance2232535191232535191Human1name
156011887CV2016789single nucleotide variantNM_000751.3(CHRND):c.1484A>G (p.Asn495Ser)Lethal multiple pterygium syndrome [RCV002734938]uncertain significance2232535242232535242Human1name
156153702CV2066783single nucleotide variantNM_000751.3(CHRND):c.1375A>G (p.Lys459Glu)Lethal multiple pterygium syndrome [RCV002850956]uncertain significance2232535133232535133Human1name
155939891CV2157899single nucleotide variantNM_000751.3(CHRND):c.1218G>T (p.Glu406Asp)Lethal multiple pterygium syndrome [RCV003014194]uncertain significance2232534101232534101Human1name
156007647CV2175649single nucleotide variantNM_000751.3(CHRND):c.1010C>A (p.Thr337Lys)Lethal multiple pterygium syndrome [RCV003035070]|not provided [RCV003146739]uncertain significance2232531619232531619Human1name
156048494CV2319243single nucleotide variantNM_000751.3(CHRND):c.1213T>A (p.Ser405Thr)CHRND-related disorder [RCV003396830]|Inborn genetic diseases [RCV002949968]uncertain significance2232534096232534096Human1name , trait , alternate_id
243055365CV2407389single nucleotide variantNM_000751.3(CHRND):c.1536G>C (p.Gln512His)not provided [RCV003144939]uncertain significance2232535294232535294Humanname
243055381CV2407394single nucleotide variantNM_000751.3(CHRND):c.1366A>T (p.Asn456Tyr)not provided [RCV003144944]uncertain significance2232534337232534337Humanname
243055383CV2407395single nucleotide variantNM_000751.3(CHRND):c.1347G>A (p.Met449Ile)not provided [RCV003144945]uncertain significance2232534318232534318Humanname
11641652CV270617single nucleotide variantNM_000751.3(CHRND):c.1220G>A (p.Arg407Gln)Lethal multiple pterygium syndrome [RCV000764382]|Lethal multiple pterygium syndrome [RCV001855172]|not provided [RCV000360639]uncertain significance2232534103232534103Human1name
11636285CV270618single nucleotide variantNM_000751.3(CHRND):c.1066C>T (p.Pro356Ser)Inborn genetic diseases [RCV002519231]|Lethal multiple pterygium syndrome [RCV000642110]|not provided [RCV000266022]uncertain significance2232533949232533949Human2name
405037079CV2857673single nucleotide variantNM_000751.3(CHRND):c.1403C>G (p.Thr468Arg)Inborn genetic diseases [RCV005323458]|Lethal multiple pterygium syndrome [RCV003517563]uncertain significance2232535161232535161Human2name
11647679CV285917single nucleotide variantNM_000751.3(CHRND):c.1473G>T (p.Gln491His)Congenital myasthenic syndrome [RCV000333080]|Lethal multiple pterygium syndrome [RCV000277936]uncertain significance2232535231232535231Human2name
405046303CV2892035single nucleotide variantNM_000751.3(CHRND):c.1098G>C (p.Glu366Asp)Lethal multiple pterygium syndrome [RCV003518464]uncertain significance2232533981232533981Human1name
405048994CV2898068single nucleotide variantNM_000751.3(CHRND):c.1444G>C (p.Val482Leu)Lethal multiple pterygium syndrome [RCV003518719]uncertain significance2232535202232535202Human1name
405038798CV2929581single nucleotide variantNM_000751.3(CHRND):c.1167G>T (p.Glu389Asp)Lethal multiple pterygium syndrome [RCV003517759]uncertain significance2232534050232534050Human1name
405079190CV2943928single nucleotide variantNM_000751.3(CHRND):c.1252C>T (p.Arg418Cys)Lethal multiple pterygium syndrome [RCV003633770]uncertain significance2232534135232534135Human1name
405086753CV2959821single nucleotide variantNM_000751.3(CHRND):c.1072C>T (p.Leu358Phe)Lethal multiple pterygium syndrome [RCV003634502]uncertain significance2232533955232533955Human1name
405086427CV2962407single nucleotide variantNM_000751.3(CHRND):c.1436C>G (p.Pro479Arg)Lethal multiple pterygium syndrome [RCV003634474]uncertain significance2232535194232535194Human1name
405088139CV2971845single nucleotide variantNM_000751.3(CHRND):c.1223A>G (p.His408Arg)Lethal multiple pterygium syndrome [RCV003634594]uncertain significance2232534106232534106Human1name
405089154CV2976677single nucleotide variantNM_000751.3(CHRND):c.1523C>G (p.Ser508Cys)Lethal multiple pterygium syndrome [RCV003634703]uncertain significance2232535281232535281Human1name
405096419CV3007326single nucleotide variantNM_000751.3(CHRND):c.1252C>G (p.Arg418Gly)Lethal multiple pterygium syndrome [RCV003635333]uncertain significance2232534135232534135Human1name
405095632CV3013301single nucleotide variantNM_000751.3(CHRND):c.1238G>A (p.Arg413His)Lethal multiple pterygium syndrome [RCV003635282]uncertain significance2232534121232534121Human1name
405071971CV3040649single nucleotide variantNM_000751.3(CHRND):c.1123G>T (p.Val375Leu)Lethal multiple pterygium syndrome [RCV003633204]uncertain significance2232534006232534006Human1name
405081593CV3068250single nucleotide variantNM_000751.3(CHRND):c.1399C>T (p.Arg467Cys)Lethal multiple pterygium syndrome [RCV003634060]uncertain significance2232535157232535157Human1name
405121055CV3116492single nucleotide variantNM_000751.3(CHRND):c.1528A>G (p.Asn510Asp)Lethal multiple pterygium syndrome [RCV003814793]uncertain significance2232535286232535286Human1name
405107891CV3136328single nucleotide variantNM_000751.3(CHRND):c.1435C>A (p.Pro479Thr)Lethal multiple pterygium syndrome [RCV003835674]uncertain significance2232535193232535193Human1name
405243676CV3161070single nucleotide variantNM_000751.3(CHRND):c.1088G>C (p.Arg363Pro)Lethal multiple pterygium syndrome [RCV003867979]uncertain significance2232533971232533971Human1name
405153360CV3163074single nucleotide variantNM_000751.3(CHRND):c.1480T>A (p.Tyr494Asn)Lethal multiple pterygium syndrome [RCV003856517]uncertain significance2232535238232535238Human1name
8566726CV33409single nucleotide variantNM_000751.3(CHRND):c.1390C>T (p.Arg464Ter)Lethal multiple pterygium syndrome [RCV000020038]pathogenic2232535148232535148Human1name
407495851CV3496574single nucleotide variantNM_000751.3(CHRND):c.1412G>A (p.Arg471His)not provided [RCV004696775]uncertain significance2232535170232535170Humanname
12741654CV360838single nucleotide variantNM_000751.3(CHRND):c.1385G>T (p.Trp462Leu)Muscle weakness [RCV000414846]likely pathogenic2232535143232535143Human2name
597646520CV3653414single nucleotide variantNM_000751.3(CHRND):c.1005C>A (p.Phe335Leu)Inborn genetic diseases [RCV004973818]uncertain significance2232531614232531614Human1name
597864291CV3767019single nucleotide variantNM_000751.3(CHRND):c.1538A>G (p.Asp513Gly)Lethal multiple pterygium syndrome [RCV005106541]uncertain significance2232535296232535296Human1name
597864295CV3767020single nucleotide variantNM_000751.3(CHRND):c.1550T>C (p.Ile517Thr)Lethal multiple pterygium syndrome [RCV005106542]uncertain significance2232535308232535308Human1name
597960401CV3811877single nucleotide variantNM_000751.3(CHRND):c.1279G>T (p.Ala427Ser)Lethal multiple pterygium syndrome [RCV005163530]uncertain significance2232534250232534250Human1name
597928361CV3816127single nucleotide variantNM_000751.3(CHRND):c.1495C>T (p.Pro499Ser)Lethal multiple pterygium syndrome [RCV005156708]uncertain significance2232535253232535253Human1name
597857747CV3816783single nucleotide variantNM_000751.3(CHRND):c.1450G>A (p.Gly484Ser)Lethal multiple pterygium syndrome [RCV005146356]uncertain significance2232535208232535208Human1name
597900284CV3835355single nucleotide variantNM_000751.3(CHRND):c.1109G>C (p.Ser370Thr)Lethal multiple pterygium syndrome [RCV005181077]uncertain significance2232533992232533992Human1name
597957287CV3838412single nucleotide variantNM_000751.3(CHRND):c.1000C>A (p.His334Asn)Lethal multiple pterygium syndrome [RCV005191787]uncertain significance2232531609232531609Human1name
597890903CV3856499single nucleotide variantNM_000751.3(CHRND):c.1319A>C (p.Asp440Ala)Lethal multiple pterygium syndrome [RCV005200564]uncertain significance2232534290232534290Human1name
598210279CV3895063single nucleotide variantNM_000751.3(CHRND):c.1419C>A (p.Cys473Ter)Congenital myasthenic syndrome 3A [RCV005358511]uncertain significance2232535177232535177Human1name
13502529CV450517single nucleotide variantNM_000751.3(CHRND):c.1367A>G (p.Asn456Ser)Congenital myasthenic syndrome [RCV001141061]|Lethal multiple pterygium syndrome [RCV000542114]|not provided [RCV000762329]conflicting interpretations of pathogenicity|uncertain significance2232534338232534338Human2name
13499727CV450643single nucleotide variantNM_000751.3(CHRND):c.1067C>T (p.Pro356Leu)Inborn genetic diseases [RCV004024019]|Lethal multiple pterygium syndrome [RCV000539992]|not provided [RCV003144338]uncertain significance2232533950232533950Human2name
13473715CV450816single nucleotide variantNM_000751.3(CHRND):c.1088G>A (p.Arg363His)Lethal multiple pterygium syndrome [RCV000547925]uncertain significance2232533971232533971Human1name
13612032CV517910single nucleotide variantNM_000751.3(CHRND):c.1237C>A (p.Arg413Ser)Lethal multiple pterygium syndrome [RCV000642116]uncertain significance2232534120232534120Human1name
13612034CV517965single nucleotide variantNM_000751.3(CHRND):c.1127G>A (p.Arg376Gln)Congenital myasthenic syndrome [RCV001138498]|Lethal multiple pterygium syndrome [RCV000642118]|not provided [RCV000731206]likely benign|conflicting interpretations of pathogenicity|uncertain significance2232534010232534010Human2name
13704897CV538964single nucleotide variantNM_000751.3(CHRND):c.1181A>C (p.Lys394Thr)Congenital myasthenic syndrome 3A [RCV000662218]|Congenital myasthenic syndrome 3B [RCV000662219]|Congenital myasthenic syndrome 3C [RCV000662220]|Congenital myasthenic syndrome [RCV000662221]uncertain significance2232534064232534064Human4name
13801337CV559181single nucleotide variantNM_000751.3(CHRND):c.1237C>T (p.Arg413Cys)Lethal multiple pterygium syndrome [RCV000697763]uncertain significance2232534120232534120Human1name
13815754CV559183single nucleotide variantNM_000751.3(CHRND):c.1403C>T (p.Thr468Ile)CHRND-related disorder [RCV003892542]|Lethal multiple pterygium syndrome [RCV000691842]uncertain significance2232535161232535161Human1name , trait , alternate_id
13809898CV561093single nucleotide variantNM_000751.3(CHRND):c.1126C>T (p.Arg376Trp)Lethal multiple pterygium syndrome [RCV000702340]uncertain significance2232534009232534009Human1name
14397164CV612604single nucleotide variantNM_000751.3(CHRND):c.1037G>A (p.Gly346Glu)not provided [RCV000762328]uncertain significance2232531646232531646Humanname
14737743CV629623single nucleotide variantNM_000751.3(CHRND):c.1330T>C (p.Phe444Leu)Inborn genetic diseases [RCV003279111]|Lethal multiple pterygium syndrome [RCV000820631]uncertain significance2232534301232534301Human2name
14738307CV629624single nucleotide variantNM_000751.3(CHRND):c.1391G>A (p.Arg464Gln)Lethal multiple pterygium syndrome [RCV000820875]uncertain significance2232535149232535149Human1name
14736580CV629625single nucleotide variantNM_000751.3(CHRND):c.1480T>C (p.Tyr494His)Lethal multiple pterygium syndrome [RCV000803667]|not provided [RCV003144625]conflicting interpretations of pathogenicity|uncertain significance2232535238232535238Human1name
15121669CV691057single nucleotide variantNM_000751.3(CHRND):c.1477G>A (p.Val493Ile)Lethal multiple pterygium syndrome [RCV000874279]|not provided [RCV003145217]benign|uncertain significance2232535235232535235Human1name
21071119CV790210single nucleotide variantNM_000751.3(CHRND):c.1007G>A (p.Arg336Gln)Lethal multiple pterygium syndrome [RCV000987056]|not provided [RCV004697019]likely pathogenic2232531616232531616Human1name
26918970CV825959single nucleotide variantNM_000751.3(CHRND):c.1071G>C (p.Glu357Asp)Lethal multiple pterygium syndrome [RCV001058462]uncertain significance2232533954232533954Human1name
26904838CV825960single nucleotide variantNM_000751.3(CHRND):c.1106C>G (p.Pro369Arg)Lethal multiple pterygium syndrome [RCV001051039]uncertain significance2232533989232533989Human1name
26921130CV825961single nucleotide variantNM_000751.3(CHRND):c.1256G>A (p.Arg419Gln)Lethal multiple pterygium syndrome [RCV001060689]likely benign|uncertain significance2232534227232534227Human1name
26905305CV825962single nucleotide variantNM_000751.3(CHRND):c.1319A>T (p.Asp440Val)Inborn genetic diseases [RCV004031012]|Lethal multiple pterygium syndrome [RCV001036943]uncertain significance2232534290232534290Human2name
26888870CV825963single nucleotide variantNM_000751.3(CHRND):c.1442T>C (p.Met481Thr)Inborn genetic diseases [RCV005318581]|Lethal multiple pterygium syndrome [RCV001045421]uncertain significance2232535200232535200Human2name
8630242CV85389single nucleotide variantNM_000751.2(CHRND):c.1103G>A (p.Gly368Glu)Malignant melanoma [RCV000065471]not provided2232533986232533986Humanname
28888800CV884125single nucleotide variantNM_000751.3(CHRND):c.1195C>T (p.Leu399Phe)Congenital myasthenic syndrome [RCV001138500]|Lethal multiple pterygium syndrome [RCV001138499]uncertain significance2232534078232534078Human2name
38483386CV922638single nucleotide variantNM_000751.3(CHRND):c.1084T>A (p.Ser362Thr)Lethal multiple pterygium syndrome [RCV001218937]uncertain significance2232533967232533967Human1name
38484601CV931203single nucleotide variantNM_000751.3(CHRND):c.1085C>G (p.Ser362Cys)Lethal multiple pterygium syndrome [RCV001208114]uncertain significance2232533968232533968Human1name
38474699CV931204single nucleotide variantNM_000751.3(CHRND):c.1290A>T (p.Glu430Asp)Lethal multiple pterygium syndrome [RCV001203928]uncertain significance2232534261232534261Human1name
38495030CV942677single nucleotide variantNM_000751.3(CHRND):c.1334T>C (p.Ile445Thr)CHRND-related disorder [RCV003414021]|Congenital myasthenic syndrome 3C [RCV002227511]|Lethal multiple pterygium syndrome [RCV001225459]|not provided [RCV004719108]uncertain significance2232534305232534305Human2name , trait , alternate_id
38493298CV952985single nucleotide variantNM_000751.3(CHRND):c.1411C>T (p.Arg471Cys)Lethal multiple pterygium syndrome [RCV001240599]uncertain significance2232535169232535169Human1name
126759887CV988494single nucleotide variantNM_000751.3(CHRND):c.1100A>G (p.Asp367Gly)Lethal multiple pterygium syndrome [RCV001299625]uncertain significance2232533983232533983Human1name
126744839CV988495single nucleotide variantNM_000751.3(CHRND):c.1219C>T (p.Arg407Trp)Lethal multiple pterygium syndrome [RCV001305897]uncertain significance2232534102232534102Human1name
126766886CV988496single nucleotide variantNM_000751.3(CHRND):c.1372G>A (p.Glu458Lys)Inborn genetic diseases [RCV002539490]|Lethal multiple pterygium syndrome [RCV001302067]|not provided [RCV003145532]uncertain significance2232535130232535130Human2name
126734839CV988498single nucleotide variantNM_000751.3(CHRND):c.1462A>G (p.Ile488Val)Lethal multiple pterygium syndrome [RCV001304509]uncertain significance2232535220232535220Human1name
126761202CV988499single nucleotide variantNM_000751.3(CHRND):c.1544G>A (p.Arg515His)Inborn genetic diseases [RCV004978265]|Lethal multiple pterygium syndrome [RCV001300023]|not provided [RCV003145524]uncertain significance2232535302232535302Human2name
150457189CV1260107insertionNM_000751.3(CHRND):c.199-90_199-89insAAGAGAnot provided [RCV001681587]benign2232527310232527311Humanname
597891406CV3784992duplicationNM_000751.3(CHRND):c.247_251dup (p.Asp85fs)Lethal multiple pterygium syndrome [RCV005125771]pathogenic2232528263232528264Human1name
616938704CV4015220deletionNM_000751.3(CHRND):c.166_172del (p.Leu56fs)Lethal multiple pterygium syndrome [RCV005412234]likely pathogenic2232526640232526646Human1name
155643804CV1708111microsatelliteNM_000751.3(CHRND):c.982_983del (p.Val328fs)Congenital myasthenic syndrome 3B [RCV002290099]|Lethal multiple pterygium syndrome [RCV005096068]pathogenic|likely pathogenic2232531588232531589Humanname
14722877CV629621duplicationNM_000751.3(CHRND):c.521_524dup (p.Ala176fs)Lethal multiple pterygium syndrome [RCV000814112]|not provided [RCV004721632]pathogenic2232528872232528873Human1name
42723632CV984486microsatelliteNM_000751.3(CHRND):c.868_871del (p.Val290fs)not provided [RCV001291610]likely pathogenic2232531395232531398Humanname
151798102CV1376585deletionNM_000751.3(CHRND):c.713_715del (p.Phe238del)Lethal multiple pterygium syndrome [RCV001932048]uncertain significance2232530030232530032Human1name
155911793CV2152268microsatelliteNM_000751.3(CHRND):c.1442TGG[2] (p.Val483del)Lethal multiple pterygium syndrome [RCV002991375]uncertain significance2232535200232535202Humanname
405038303CV2931939deletionNM_000751.3(CHRND):c.784_786del (p.Phe262del)Lethal multiple pterygium syndrome [RCV003517703]uncertain significance2232530102232530104Human1name
12859006CV389195microsatelliteNM_000751.3(CHRND):c.1374_1375del (p.Lys459fs)Lethal multiple pterygium syndrome [RCV000454340]likely pathogenic2232535130232535131Humanname
13611647CV514462deletionNM_000751.3(CHRND):c.1345_1346del (p.Met449fs)Lethal multiple pterygium syndrome [RCV000812890]|not provided [RCV000627608]likely pathogenic|uncertain significance2232534316232534317Human1name
152999112CV1679552deletionNM_000751.3(CHRND):c.1441_1443del (p.Met481del)Congenital myasthenic syndrome 3B [RCV002250941]uncertain significance2232535199232535201Human1name
156391580CV1990195deletionNM_000751.3(CHRND):c.249del (p.Gly82_Trp83insTer)Lethal multiple pterygium syndrome [RCV002604718]pathogenic2232528266232528266Human1name
243062373CV2404738indelNM_000751.3(CHRND):c.919_920delinsAG (p.Pro307Ser)Congenital myasthenic syndrome 3A [RCV003140299]uncertain significance2232531450232531451Humanname
155940173CV2071566indelNM_000751.3(CHRND):c.677_766delinsGGGT (p.Ala226fs)Lethal multiple pterygium syndrome [RCV002861721]pathogenic2232529996232530085Humanname
597974845CV3802280microsatelliteNM_000751.3(CHRND):c.1128GAG[3] (p.Arg377_Ser378insArg)Lethal multiple pterygium syndrome [RCV005144057]uncertain significance2232534009232534010Humanname