MSeqDR Mitochondrial Disease Portal


 
*:HP: HPO terms, UMDF: 1= Disease, ND: NAMDC terms.
  Most Studied  CPEO, Complex I Deficiency, COXPD1, Leigh, LHON, MELAS, MERRF, Myopathy, SANDO
Disease Browser
Parent Node:
expand
Bone Diseases, Developmental (D001848)
..Starting node
..expand
Acromesomelic dysplasia, Maroteaux type (C535661)

       Child Nodes:



 Sister Nodes: 
..expandAcro-Osteolysis (D030981) Child7
..expandAcrocapitofemoral Dysplasia (C564334)
..expandAcromesomelic dysplasia, Maroteaux type (C535661)
..expandAcromicric dysplasia (C535662) Child1
..expandAgonadism, XY, with Mental Retardation, Short Stature, Retarded Bone Age, and Multiple Extragenital Malformations (C563429)
..expandAngel shaped phalangoepiphyseal dysplasia (C536361)
..expandAU-KLINE SYNDROME (OMIM:616580)
..expandBaby Rattle Pelvis Dysplasia (C565282)
..expandBasal Cell Nevus Syndrome (D001478) Child1
..expandBattaglia Neri syndrome (C537662)
..expandBazopoulou Kyrkanidou syndrome (C537664)
..expandBellini Chiumello Rimoldi syndrome (C535652)
..expandBENT BONE DYSPLASIA SYNDROME (OMIM:614592)
..expandBlount disease (C536237)
..expandBone Dysplasia, Lethal, Holmgren Type (C565896)
..expandBrachioskeletogenital syndrome (C537084)
..expandBrachymesomelia renal syndrome (C537096)
..expandBrittle Bone Disorder (C565842)
..expandCamptodactyly, fibrous tissue hyperplasia, and skeletal dysplasia (C537974)
..expandCATSHL syndrome (C537975)
..expandCervical Vertebral Dysplasia (C566140)
..expandCHOPS SYNDROME (OMIM:616368)
..expandCortical Defects, Wormian Bones, and Dentinogenesis Imperfecta (C565734)
..expandCraniolenticulosutural Dysplasia (C564332)
..expandDeafness conductive ptosis skeletal anomalies (C535993)
..expandDiaphragmatic Defects, Limb Deficiencies, and Ossification Defects Of Skull (C563380)
..expandDiaphyseal medullary stenosis with malignant fibrous histiocytoma (C536169)
..expandDoughnut Lesions of Skull, Familial (C565089)
..expandDwarfism (D004392) Child155
..expandDysostoses (D004413) Child262
..expandDysplasia epiphysealis hemimelica (C537997)
..expandDysplasia Epiphysealis Hemimelica with Chondromas and Osteochondromas (C565076)
..expandEVEN-PLUS SYNDROME (OMIM:616854)
..expandFountain syndrome (C537270)
..expandFryns Hofkens Fabry syndrome (C538069)
..expandFunnel Chest (D005660) Child4
..expandGigantism (D005877) Child1
..expandGracile bone dysplasia (C537291)
..expandGurrieri Sammito Bellussi syndrome (C537625)
..expandHall Riggs mental retardation syndrome (C535623)
..expandIschiopatellar dysplasia (C535540)
..expandKantaputra Gorlin syndrome (C535547)
..expandKBG syndrome (C537015)
..expandKozlowski Rafinski Klicharska syndrome (C537509)
..expandKozlowski Warren Fisher syndrome (C537614)
..expandKyphomelic dysplasia (C538128)
..expandLarsen syndrome, recessive type (C537874)
..expandLeg Length Inequality (D007870)
..expandLenz Majewski hyperostotic dwarfism (C537115)
..expandLissencephaly Type III and Bone Dysplasia (C563383)
..expandMacroepiphyseal dysplasia, McAlister Coe type (C537721)
..expandMANDIBULAR HYPOPLASIA, DEAFNESS, PROGEROID FEATURES, AND LIPODYSTROPHY SYNDROME (OMIM:615381)
..expandMarfan Syndrome (D008382) Child9
..expandMarshall-Smith syndrome (C536026)
..expandMembranous Cranial Ossification, Delayed (C563592)
..expandMesomelic Dysplasia, Camera Type (C567503)
..expandMesomelic Limb Shortening and Bowing (C565404)
..expandMononen Karnes Senac syndrome (C535914)
..expandOsteochondrodysplasias (D010009) Child367
..expandOsteofibrous Dysplasia (C563276)
..expandOsteolysis, Essential (D010015) Child1
..expandOsteosclerosis with ichthyosis and premature ovarian failure (C536064)
..expandPatterson pseudoleprechaunism syndrome (C536310)
..expandPectus Carinatum (D066166)
..expandPlatybasia (D010985) Child1
..expandPointer syndrome (C536323)
..expandPrenatal Bowing (C564873)
..expandProteus Syndrome (D016715) Child1
..expandRadius absent anogenital anomalies (C535281)
..expandRhizomelic dysplasia Patterson Lowry type (C537609)
..expandRhizomelic dysplasia, scoliosis, and retinitis pigmentosa (C537610)
..expandRhizomelic syndrome (C537611)
..expandRoifman-Chitayat Syndrome (C567641)
..expandSantos Syndrome (C567819)
..expandSchwartz-Lelek syndrome (C537519)
..expandShort Stature, Auditory Canal Atresia, Mandibular Hypoplasia, Skeletal Abnormalities (C566544)
..expandSkeletal Defects, Genital Hypoplasia, And Mental Retardation (C567306)
..expandSkeletal Dysplasia And Progressive Central Nervous System Degeneration, Lethal (C566514)
..expandSkeletal Dysplasia With Delayed Epiphyseal And Carpal Bone Ossification (C566687)
..expandSkeletal Dysplasia, Rhizomelic, with Retinitis Pigmentosa (C563806)
..expandSpondyloepimetaphyseal Dysplasia, Aggrecan Type (C567558)
..expandSpranger Schinzel Myers syndrome (C535801)
..expandStoll Levy Francfort syndrome (C537498)
..expandTrichoodontoonychial Dysplasia (C564760)
..expandUlna hypoplasia with mental retardation (C536934)
..expandVERHEIJ SYNDROME (OMIM:615583)
..expandVertebral body fusion overgrowth (C536543)
..expandWeismann Netter syndrome (C537082)
..expandWiedemann Oldigs Oppermann syndrome (C536705)
   

Human Disease MESH is developed by UMLS.
Further data from MedGen, OMIM,ClinVar, CTD
Term ID:214
Name:Acromesomelic dysplasia, Maroteaux type
Definition:
Alternative IDs:DO:DOID:0080050|OMIM:602875
ParentIDs:MESH:D001848
TreeNumbers:C05.116.099/C535661
Synonyms:AMDM |ST. HELENA DYSPLASIA
Slim Mappings:Musculoskeletal disease
Reference: MedGen: C535661
MeSH: C535661
OMIM: 602875;
MSeqDR LSDB:  
Genes: NPR2;
Phenotypes
1 HP:0000007Autosomal recessive inheritance
2 HP:0003086Acromesomelia
3 HP:0004568Beaking of vertebral bodies
4 HP:0001500Broad finger
5 HP:0001230Broad metacarpals
6 HP:0001783Broad metatarsal
7 HP:0006009Broad phalanx
8 HP:0010230Cone-shaped epiphyses of the phalanges of the hand
9 HP:0003498Disproportionate short stature
10 HP:0003015Flared metaphysis
11 HP:0002007Frontal bossing
12 HP:0002984Hypoplasia of the radius
13 HP:0001388Joint laxity
14 HP:0001377Limited elbow extension
15 HP:0001847Long hallux
16 HP:0004633Lower thoracic kyphosis
17 HP:0002938Lumbar hyperlordosis
18 HP:0003300Ovoid vertebral bodies
19 HP:0011220Prominent forehead
20 HP:0002986Radial bowing
21 HP:0007516Redundant skin on fingers
22 HP:0010049Short metacarpal
23 HP:0010743Short metatarsal
24 HP:0001799Short nail
25 HP:0003196Short nose
26 HP:0009803Short phalanx of finger
27 HP:0001831Short toe
28 HP:0008484Thoracolumbar interpediculate narrowness
29 HP:0005619Thoracolumbar kyphosis
Disease Causing ClinVar Variants
Variation_NameGeneIDGeneSymbolClinicalSignificancedbSNPRCVaccessionTestedInGTRPhenotypeIDsChromosomeStartStopHGVS_cHGVS_pHGVS_gOtherIDsDisease_ClinVar
NM_003995.4(NPR2):c.14C>A (p.Ser5Ter)4882NPR2Pathogenic-1RCV001260934; NMONDO:MONDO:0011275,MedGen:C1864356,OMIM:602875, Orphanet:4093579241935792419CA9:g.35792419C>A-
NM_003995.3(NPR2):c.18T>C (p.Leu6=)4882NPR2Benignrs2228580RCV000273566; NMONDO:MONDO:0011275,MedGen:C1864356,OMIM:602875, Orphanet:4093579242335792423TC9:g.35792423T>CClinGen:CA5051390
NM_003995.3(NPR2):c.64G>T (p.Ala22Ser)4882NPR2Conflicting interpretations of pathogenicityrs140014632RCV000173314|RCV000768034|RCV000952311; NMedGen:CN169374|MONDO:MONDO:0014551,MedGen:C4225399,OMIM:616255; MONDO:MONDO:0014401,MedGen:C4014690,OMIM:615923, Orphanet:329191; MONDO:MONDO:0011275,MedGen:C1864356,OMIM:602875, Orphanet:40|MONDO:MONDO:0014401,MedGen:C4014690,OMIM:615923, Orphanet:329191; M93579246935792469GT9:g.35792469G>TClinGen:CA200453CN169374 not specified;
NM_003995.3(NPR2):c.90G>A (p.Val30=)4882NPR2Conflicting interpretations of pathogenicityrs56036598RCV000652337|RCV001166891; NMONDO:MONDO:0011275,MedGen:C1864356,OMIM:602875, Orphanet:40; MONDO:MONDO:0014401,MedGen:C4014690,OMIM:615923, Orphanet:329191|MONDO:MONDO:0011275,MedGen:C1864356,OMIM:602875, Orphanet:4093579249535792495GA9:g.35792495G>AClinGen:CA5051402C1864356 602875 Acromesomelic dysplasia Maroteaux type;
NM_003995.3(NPR2):c.94C>A (p.Pro32Thr)4882NPR2Pathogenicrs28931581RCV000019362; NMONDO:MONDO:0011275,MedGen:C1864356,OMIM:602875, Orphanet:4093579249935792499CA9:g.35792499C>AClinGen:CA250692,UniProtKB:P20594#VAR_022583,OMIM:108961.0001C1864356 602875 Acromesomelic dysplasia Maroteaux type;
NM_003995.3(NPR2):c.98A>C (p.Glu33Ala)4882NPR2Uncertain significancers886063909RCV000333349; NMONDO:MONDO:0011275,MedGen:C1864356,OMIM:602875, Orphanet:4093579250335792503AC9:g.35792503A>CClinGen:CA10627306
NM_003995.4(NPR2):c.155C>A (p.Ala52Asp)4882NPR2Uncertain significance-1RCV001218352; NMONDO:MONDO:0011275,MedGen:C1864356,OMIM:602875, Orphanet:40; MONDO:MONDO:0014401,MedGen:C4014690,OMIM:615923, Orphanet:32919193579256035792560CA9:g.35792560C>A-
NM_003995.4(NPR2):c.190C>T (p.Leu64=)4882NPR2Uncertain significance-1RCV001166892; NMONDO:MONDO:0011275,MedGen:C1864356,OMIM:602875, Orphanet:4093579259535792595CT9:g.35792595C>T-
NM_003995.3(NPR2):c.298G>A (p.Gly100Ser)4882NPR2Likely pathogenicrs753644648RCV000856598; NMONDO:MONDO:0011275,MedGen:C1864356,OMIM:602875, Orphanet:4093579270335792703GA9:g.35792703G>A-
NM_003995.3(NPR2):c.312T>C (p.Pro104=)4882NPR2Uncertain significancers886063910RCV000369095; NMONDO:MONDO:0011275,MedGen:C1864356,OMIM:602875, Orphanet:4093579271735792717TC9:g.35792717T>CClinGen:CA10630042
NM_003995.4(NPR2):c.328C>T4882NPR2Uncertain significancers758478717RCV000190431|RCV001263517; NMONDO:MONDO:0014551,MedGen:C4225399,OMIM:616255|MONDO:MONDO:0011275,MedGen:C1864356,OMIM:602875, Orphanet:4093579273335792733CT9:g.35792733C>TUniProtKB:P20594#VAR_074679,OMIM:108961.0012,ClinGen:CA204432C4225399 616255 Short stature with nonspecific skeletal abnormalities;
NM_003995.4(NPR2):c.329G>A (p.Arg110His)4882NPR2Uncertain significance-1RCV001260933; NMONDO:MONDO:0011275,MedGen:C1864356,OMIM:602875, Orphanet:4093579273435792734GA9:g.35792734G>A-
NM_003995.3(NPR2):c.336C>G (p.Ala112=)4882NPR2Uncertain significancers533386555RCV000260578; NMONDO:MONDO:0011275,MedGen:C1864356,OMIM:602875, Orphanet:4093579274135792741CG9:g.35792741C>GClinGen:CA5051435
NM_003995.3(NPR2):c.343T>G (p.Trp115Gly)4882NPR2Pathogenicrs28931582RCV000019363; NMONDO:MONDO:0011275,MedGen:C1864356,OMIM:602875, Orphanet:4093579274835792748TG9:g.35792748T>GUniProtKB:P20594#VAR_022584,OMIM:108961.0002,ClinGen:CA250693C1864356 602875 Acromesomelic dysplasia Maroteaux type;
NM_003995.4(NPR2):c.422G>A (p.Arg141His)4882NPR2Uncertain significance-1RCV001263519; NMONDO:MONDO:0011275,MedGen:C1864356,OMIM:602875, Orphanet:4093579282735792827GA9:g.35792827G>A-
NM_003995.3(NPR2):c.477C>T (p.His159=)4882NPR2Likely benignrs1554671925RCV000652338; NMONDO:MONDO:0011275,MedGen:C1864356,OMIM:602875, Orphanet:40; MONDO:MONDO:0014401,MedGen:C4014690,OMIM:615923, Orphanet:32919193579288235792882CT9:g.35792882C>TClinGen:CA464453225C1864356 602875 Acromesomelic dysplasia Maroteaux type;
NM_003995.4(NPR2):c.494G>A (p.Arg165His)4882NPR2Uncertain significance-1RCV001197478|RCV001253507; NMONDO:MONDO:0011275,MedGen:C1864356,OMIM:602875, Orphanet:40|MONDO:MONDO:0014551,MedGen:C4225399,OMIM:61625593579289935792899GA9:g.35792899G>A-
NM_003995.3(NPR2):c.528T>A (p.Asp176Glu)4882NPR2Pathogenicrs28929479RCV000019364; NMONDO:MONDO:0011275,MedGen:C1864356,OMIM:602875, Orphanet:4093579293335792933TA9:g.35792933T>AClinGen:CA250694,UniProtKB:P20594#VAR_022585,OMIM:108961.0003C1864356 602875 Acromesomelic dysplasia Maroteaux type;
NM_003995.3(NPR2):c.560T>A (p.Val187Asp)4882NPR2Pathogenicrs1057519335RCV000416349; NMONDO:MONDO:0011275,MedGen:C1864356,OMIM:602875, Orphanet:4093579296535792965TA9:g.35792965T>AClinGen:CA16044040
NM_003995.3(NPR2):c.649A>T (p.Ile217Phe)4882NPR2Conflicting interpretations of pathogenicityrs191155989RCV000315791|RCV000946345; NMONDO:MONDO:0011275,MedGen:C1864356,OMIM:602875, Orphanet:40|MONDO:MONDO:0014401,MedGen:C4014690,OMIM:615923, Orphanet:329191; MONDO:MONDO:0011275,MedGen:C1864356,OMIM:602875, Orphanet:4093579305435793054AT9:g.35793054A>TClinGen:CA5051478
NM_003995.4(NPR2):c.653G>A (p.Arg218Gln)4882NPR2Uncertain significancers1285934866RCV000988184; NMONDO:MONDO:0011275,MedGen:C1864356,OMIM:602875, Orphanet:4093579305835793058GA9:g.35793058G>A-
NM_003995.4(NPR2):c.661G>A (p.Gly221Arg)4882NPR2Uncertain significancers1440373349RCV001261880; NMONDO:MONDO:0011275,MedGen:C1864356,OMIM:602875, Orphanet:4093579306635793066GA9:g.35793066G>A-
NM_003995.3(NPR2):c.668-4C>A4882NPR2Benignrs61758517RCV000526583; NMONDO:MONDO:0011275,MedGen:C1864356,OMIM:602875, Orphanet:40; MONDO:MONDO:0014401,MedGen:C4014690,OMIM:615923, Orphanet:32919193579389135793891CA9:g.35793891C>AClinGen:CA5051496C1864356 602875 Acromesomelic dysplasia Maroteaux type;
NM_003995.3(NPR2):c.697C>T (p.Leu233=)4882NPR2Uncertain significancers61758518RCV000598099|RCV001168606; NMedGen:CN517202|MONDO:MONDO:0011275,MedGen:C1864356,OMIM:602875, Orphanet:4093579392435793924CT9:g.35793924C>TClinGen:CA5051503CN169374 not specified;
NM_003995.3(NPR2):c.701A>G (p.His234Arg)4882NPR2Uncertain significancers770808236RCV000652335; NMONDO:MONDO:0011275,MedGen:C1864356,OMIM:602875, Orphanet:40; MONDO:MONDO:0014401,MedGen:C4014690,OMIM:615923, Orphanet:32919193579392835793928AG9:g.35793928A>GClinGen:CA5051504C1864356 602875 Acromesomelic dysplasia Maroteaux type;
NM_003995.3(NPR2):c.725G>A (p.Arg242Lys)4882NPR2Uncertain significancers774099913RCV000375004|RCV001230881; NMONDO:MONDO:0011275,MedGen:C1864356,OMIM:602875, Orphanet:40|MONDO:MONDO:0011275,MedGen:C1864356,OMIM:602875, Orphanet:40; MONDO:MONDO:0014401,MedGen:C4014690,OMIM:615923, Orphanet:32919193579395235793952GA9:g.35793952G>AClinGen:CA5051505
NM_003995.4(NPR2):c.748del (p.Tyr250fs)4882NPR2Pathogenic-1RCV001263531; NMONDO:MONDO:0011275,MedGen:C1864356,OMIM:602875, Orphanet:4093579397435793974ATA9:g.35793974_35793974del-
NM_003995.3(NPR2):c.830A>G (p.Asn277Ser)4882NPR2Uncertain significancers770531192RCV000622943|RCV001049354|RCV001168607; NMeSH:D030342,MedGen:C0950123|MONDO:MONDO:0011275,MedGen:C1864356,OMIM:602875, Orphanet:40; MONDO:MONDO:0014401,MedGen:C4014690,OMIM:615923, Orphanet:329191|MONDO:MONDO:0011275,MedGen:C1864356,OMIM:602875, Orphanet:4093579405735794057AG9:g.35794057A>GClinGen:CA5051522C0950123 Inborn genetic diseases;
NM_003995.4(NPR2):c.833G>A (p.Arg278His)4882NPR2Uncertain significance-1RCV001168608; NMONDO:MONDO:0011275,MedGen:C1864356,OMIM:602875, Orphanet:4093579406035794060GA9:g.35794060G>A-
NM_003995.3(NPR2):c.853G>A (p.Ala285Thr)4882NPR2Uncertain significancers886063911RCV000266103; NMONDO:MONDO:0011275,MedGen:C1864356,OMIM:602875, Orphanet:4093579408035794080GA9:g.35794080G>AClinGen:CA10633969
NM_003995.4(NPR2):c.866C>A (p.Ala289Asp)4882NPR2Uncertain significance-1RCV001263518; NMONDO:MONDO:0011275,MedGen:C1864356,OMIM:602875, Orphanet:4093579409335794093CA9:g.35794093C>A-
NM_003995.4(NPR2):c.873+3A>G4882NPR2Uncertain significance-1RCV001264760; NMONDO:MONDO:0011275,MedGen:C1864356,OMIM:602875, Orphanet:4093579410335794103AG9:g.35794103A>G-
NM_003995.3(NPR2):c.873+13C>A4882NPR2Likely benignrs61758520RCV000321234; NMONDO:MONDO:0011275,MedGen:C1864356,OMIM:602875, Orphanet:4093579411335794113CA9:g.35794113C>AClinGen:CA5051537
GRCh37/hg19 9p13.3(chr9:35799615-35808850)4882NPR2Pathogenic-1RCV001254041; NMONDO:MONDO:0011275,MedGen:C1864356,OMIM:602875, Orphanet:4093579961535808850nana-1-
NM_003995.4(NPR2):c.952C>T (p.Arg318Trp)4882NPR2Uncertain significance-1RCV001168609; NMONDO:MONDO:0011275,MedGen:C1864356,OMIM:602875, Orphanet:4093579969335799693CT9:g.35799693C>T-
NM_003995.3(NPR2):c.966T>C (p.Gly322=)4882NPR2Likely benignrs746736321RCV000922341; NMONDO:MONDO:0011275,MedGen:C1864356,OMIM:602875, Orphanet:40; MONDO:MONDO:0014401,MedGen:C4014690,OMIM:615923, Orphanet:32919193579970735799707TC9:g.35799707T>C-
NM_003995.3(NPR2):c.987+1G>C4882NPR2Likely pathogenicrs1554672893RCV000526471; NMONDO:MONDO:0011275,MedGen:C1864356,OMIM:602875, Orphanet:40; MONDO:MONDO:0014401,MedGen:C4014690,OMIM:615923, Orphanet:32919193579972935799729GC9:g.35799729G>CClinGen:CA373369547C1864356 602875 Acromesomelic dysplasia Maroteaux type;
NM_003995.3(NPR2):c.987+10T>A4882NPR2Likely benignrs547211547RCV000946199; NMONDO:MONDO:0011275,MedGen:C1864356,OMIM:602875, Orphanet:40; MONDO:MONDO:0014401,MedGen:C4014690,OMIM:615923, Orphanet:32919193579973835799738TA9:g.35799738T>A-
NM_003995.3(NPR2):c.999C>T (p.Ile333=)4882NPR2Benignrs28764009RCV000951633; NMONDO:MONDO:0011275,MedGen:C1864356,OMIM:602875, Orphanet:40; MONDO:MONDO:0014401,MedGen:C4014690,OMIM:615923, Orphanet:32919193580003035800030CT9:g.35800030C>T-
NM_003995.4(NPR2):c.1013A>G (p.Tyr338Cys)4882NPR2Uncertain significance-1RCV001263097; NMONDO:MONDO:0011275,MedGen:C1864356,OMIM:602875, Orphanet:4093580004435800044AG9:g.35800044A>G-
NM_003995.4(NPR2):c.1043T>C (p.Leu348Pro)4882NPR2Likely pathogenic-1RCV001248807; NMONDO:MONDO:0011275,MedGen:C1864356,OMIM:602875, Orphanet:4093580007435800074TC9:g.35800074T>C-
NM_003995.3(NPR2):c.1092del (p.Ile364fs)4882NPR2Pathogenicrs879255257RCV000190426|RCV000190427; NMONDO:MONDO:0011275,MedGen:C1864356,OMIM:602875, Orphanet:40|MONDO:MONDO:0014551,MedGen:C4225399,OMIM:61625593580012235800122ATA9:g.35800122_35800122delClinGen:CA5051601,OMIM:108961.0008
NM_003995.4(NPR2):c.1123G>C (p.Gly375Arg)4882NPR2Uncertain significance-1RCV001217004; NMONDO:MONDO:0014401,MedGen:C4014690,OMIM:615923, Orphanet:329191; MONDO:MONDO:0011275,MedGen:C1864356,OMIM:602875, Orphanet:4093580015435800154GC9:g.35800154G>C-
NM_003995.3(NPR2):c.1155C>T (p.Asn385=)4882NPR2Likely benignrs757184535RCV000951638; NMONDO:MONDO:0011275,MedGen:C1864356,OMIM:602875, Orphanet:40; MONDO:MONDO:0014401,MedGen:C4014690,OMIM:615923, Orphanet:32919193580041735800417CT9:g.35800417C>T-
NM_003995.4(NPR2):c.1162C>T4882NPR2Pathogenicrs121912739RCV000019365; NMONDO:MONDO:0011275,MedGen:C1864356,OMIM:602875, Orphanet:4093580042435800424CT9:g.35800424C>TOMIM:108961.0004,ClinGen:CA250695C1864356 602875 Acromesomelic dysplasia Maroteaux type;
NM_003995.4(NPR2):c.1163G>A (p.Arg388Gln)4882NPR2Uncertain significance-1RCV001261879; NMONDO:MONDO:0011275,MedGen:C1864356,OMIM:602875, Orphanet:4093580042535800425GA9:g.35800425G>A-
NM_003995.4(NPR2):c.1198C>G (p.Leu400Val)4882NPR2Uncertain significance-1RCV001248019; NMONDO:MONDO:0014401,MedGen:C4014690,OMIM:615923, Orphanet:329191; MONDO:MONDO:0011275,MedGen:C1864356,OMIM:602875, Orphanet:4093580046035800460CG9:g.35800460C>G-
NM_003995.4(NPR2):c.1215del (p.Gln406fs)4882NPR2Pathogenic-1RCV001264761; NMONDO:MONDO:0011275,MedGen:C1864356,OMIM:602875, Orphanet:4093580047535800475CTC9:g.35800475_35800475del-
NM_003995.3(NPR2):c.1236G>A (p.Ser412=)4882NPR2Likely benignrs146712937RCV000951639; NMONDO:MONDO:0011275,MedGen:C1864356,OMIM:602875, Orphanet:40; MONDO:MONDO:0014401,MedGen:C4014690,OMIM:615923, Orphanet:32919193580072335800723GA9:g.35800723G>A-
NM_003995.4(NPR2):c.1268G>A (p.Arg423Gln)4882NPR2Uncertain significance-1RCV001214587; NMONDO:MONDO:0011275,MedGen:C1864356,OMIM:602875, Orphanet:40; MONDO:MONDO:0014401,MedGen:C4014690,OMIM:615923, Orphanet:32919193580075535800755GA9:g.35800755G>A-
NM_003995.3(NPR2):c.1313C>A (p.Pro438His)4882NPR2Uncertain significancers778410447RCV000707442; NMONDO:MONDO:0011275,MedGen:C1864356,OMIM:602875, Orphanet:40; MONDO:MONDO:0014401,MedGen:C4014690,OMIM:615923, Orphanet:32919193580080035800800CA9:g.35800800C>A-C1864356 602875 Acromesomelic dysplasia Maroteaux type;
NM_003995.4(NPR2):c.1313C>T (p.Pro438Leu)4882NPR2Uncertain significance-1RCV001046360; NMONDO:MONDO:0011275,MedGen:C1864356,OMIM:602875, Orphanet:40; MONDO:MONDO:0014401,MedGen:C4014690,OMIM:615923, Orphanet:32919193580080035800800CT9:g.35800800C>T-
NM_003995.3(NPR2):c.1351+10T>C4882NPR2Conflicting interpretations of pathogenicityrs199798952RCV000951775|RCV001169366; NMONDO:MONDO:0011275,MedGen:C1864356,OMIM:602875, Orphanet:40; MONDO:MONDO:0014401,MedGen:C4014690,OMIM:615923, Orphanet:329191|MONDO:MONDO:0011275,MedGen:C1864356,OMIM:602875, Orphanet:4093580084835800848TC9:g.35800848T>C-
NM_003995.4(NPR2):c.1368G>A (p.Leu456=)4882NPR2Uncertain significance-1RCV001043084; NMONDO:MONDO:0011275,MedGen:C1864356,OMIM:602875, Orphanet:40; MONDO:MONDO:0014401,MedGen:C4014690,OMIM:615923, Orphanet:32919193580108335801083GA9:g.35801083G>A-
NM_003995.3(NPR2):c.1403T>G (p.Ile468Ser)4882NPR2Uncertain significancers886063912RCV000380355; NMONDO:MONDO:0011275,MedGen:C1864356,OMIM:602875, Orphanet:4093580111835801118TG9:g.35801118T>GClinGen:CA10627307
NM_003995.3(NPR2):c.1435C>T (p.Arg479Ter)4882NPR2Pathogenicrs1057519324RCV000416343|RCV001262820; NMONDO:MONDO:0011275,MedGen:C1864356,OMIM:602875, Orphanet:40|MONDO:MONDO:0014551,MedGen:C4225399,OMIM:61625593580115035801150CT9:g.35801150C>TClinGen:CA16044039
NM_003995.4(NPR2):c.1437-3C>T4882NPR2Uncertain significance-1RCV001169367; NMONDO:MONDO:0011275,MedGen:C1864356,OMIM:602875, Orphanet:4093580163735801637CT9:g.35801637C>T-
NM_003995.4(NPR2):c.1517G>A (p.Arg506His)4882NPR2Uncertain significance-1RCV001045867; NMONDO:MONDO:0011275,MedGen:C1864356,OMIM:602875, Orphanet:40; MONDO:MONDO:0014401,MedGen:C4014690,OMIM:615923, Orphanet:32919193580172035801720GA9:g.35801720G>A-
NM_003995.4(NPR2):c.1547C>T (p.Thr516Ile)4882NPR2Uncertain significance-1RCV001218351; NMONDO:MONDO:0011275,MedGen:C1864356,OMIM:602875, Orphanet:40; MONDO:MONDO:0014401,MedGen:C4014690,OMIM:615923, Orphanet:32919193580175035801750CT9:g.35801750C>T-
NM_003995.3(NPR2):c.1554G>A (p.Ser518=)4882NPR2Likely benignrs190753852RCV000903645; NMONDO:MONDO:0011275,MedGen:C1864356,OMIM:602875, Orphanet:40; MONDO:MONDO:0014401,MedGen:C4014690,OMIM:615923, Orphanet:32919193580175735801757GA9:g.35801757G>A-
NM_003995.3(NPR2):c.1572C>T (p.Tyr524=)4882NPR2Conflicting interpretations of pathogenicityrs150393424RCV000286069|RCV000950933; NMONDO:MONDO:0011275,MedGen:C1864356,OMIM:602875, Orphanet:40|MedGen:CN51720293580193735801937CT9:g.35801937C>TClinGen:CA5051734
NM_003995.3(NPR2):c.1629C>T (p.Phe543=)4882NPR2Likely benignrs375740003RCV000953995; NMONDO:MONDO:0011275,MedGen:C1864356,OMIM:602875, Orphanet:40; MONDO:MONDO:0014401,MedGen:C4014690,OMIM:615923, Orphanet:32919193580199435801994CT9:g.35801994C>T-
NM_003995.3(NPR2):c.1633-10C>A4882NPR2Benign/Likely benignrs201550050RCV000878601|RCV001169368; NMedGen:CN517202|MONDO:MONDO:0011275,MedGen:C1864356,OMIM:602875, Orphanet:4093580219335802193CA9:g.35802193C>A-
NM_003995.4(NPR2):c.1636A>T (p.Asn546Tyr)4882NPR2Uncertain significance-1RCV001222851; NMONDO:MONDO:0011275,MedGen:C1864356,OMIM:602875, Orphanet:40; MONDO:MONDO:0014401,MedGen:C4014690,OMIM:615923, Orphanet:32919193580220635802206AT9:g.35802206A>T-
NM_003995.3(NPR2):c.1644C>T (p.Val548=)4882NPR2Uncertain significancers772510686RCV000345822; NMONDO:MONDO:0011275,MedGen:C1864356,OMIM:602875, Orphanet:4093580221435802214CT9:g.35802214C>TClinGen:CA5051771
NM_003995.4(NPR2):c.1673T>C (p.Ile558Thr)4882NPR2Likely pathogenicrs751324720RCV001261881; NMONDO:MONDO:0011275,MedGen:C1864356,OMIM:602875, Orphanet:4093580224335802243TC9:g.35802243T>C-
NM_003995.4(NPR2):c.1711-9T>G4882NPR2Uncertain significance-1RCV001169369; NMONDO:MONDO:0011275,MedGen:C1864356,OMIM:602875, Orphanet:4093580249135802491TG9:g.35802491T>G-
NM_003995.3(NPR2):c.1758delC (p.Cys586Terfs)4882NPR2Pathogenicrs1057519334RCV000416331; NMONDO:MONDO:0011275,MedGen:C1864356,OMIM:602875, Orphanet:4093580254735802547GCG9:g.35802547_35802547delClinGen:CA16044041
NM_003995.3(NPR2):c.1794C>T (p.Tyr598=)4882NPR2Benignrs5812RCV000381719; NMONDO:MONDO:0011275,MedGen:C1864356,OMIM:602875, Orphanet:4093580258335802583CT9:g.35802583C>TClinGen:CA5051813
NM_003995.4(NPR2):c.1802G>T (p.Arg601Leu)4882NPR2Uncertain significance-1RCV001166428; NMONDO:MONDO:0011275,MedGen:C1864356,OMIM:602875, Orphanet:4093580259135802591GT9:g.35802591G>T-
NM_003995.3(NPR2):c.1815+2T>C4882NPR2Uncertain significancers1563988864RCV000778883; NMONDO:MONDO:0011275,MedGen:C1864356,OMIM:602875, Orphanet:4093580260635802606TC9:g.35802606T>C-
NM_003995.4(NPR2):c.1887+2T>A4882NPR2Pathogenic-1RCV001263189; NMONDO:MONDO:0011275,MedGen:C1864356,OMIM:602875, Orphanet:4093580280235802802TA9:g.35802802T>A-
NM_003995.4(NPR2):c.1887+11C>G4882NPR2Uncertain significance-1RCV001166429; NMONDO:MONDO:0011275,MedGen:C1864356,OMIM:602875, Orphanet:4093580281135802811CG9:g.35802811C>G-
NM_003995.4(NPR2):c.1922C>T (p.Ser641Leu)4882NPR2not provided-1RCV001249316; NMONDO:MONDO:0011275,MedGen:C1864356,OMIM:602875, Orphanet:4093580554235805542CT9:g.35805542C>T-
NM_003995.3(NPR2):c.2047+11C>T4882NPR2Likely benignrs200583592RCV000292126; NMONDO:MONDO:0011275,MedGen:C1864356,OMIM:602875, Orphanet:4093580567835805678CT9:g.35805678C>TClinGen:CA5051877
NM_003995.4(NPR2):c.2143C>T (p.Gln715Ter)4882NPR2Pathogenic-1RCV001263532; NMONDO:MONDO:0011275,MedGen:C1864356,OMIM:602875, Orphanet:4093580592235805922CT9:g.35805922C>T-
NM_003995.4(NPR2):c.2252G>A (p.Ser751Asn)4882NPR2Uncertain significance-1RCV001166430; NMONDO:MONDO:0011275,MedGen:C1864356,OMIM:602875, Orphanet:4093580611035806110GA9:g.35806110G>A-
NM_003995.3(NPR2):c.2260C>T (p.Arg754Trp)4882NPR2Uncertain significancers371968545RCV000792814; NMONDO:MONDO:0014401,MedGen:C4014690,OMIM:615923, Orphanet:329191; MONDO:MONDO:0011275,MedGen:C1864356,OMIM:602875, Orphanet:4093580611835806118CT9:g.35806118C>T-
NM_003995.3(NPR2):c.2261G>A (p.Arg754Gln)4882NPR2Uncertain significancers763488261RCV000347047; NMONDO:MONDO:0011275,MedGen:C1864356,OMIM:602875, Orphanet:4093580611935806119GA9:g.35806119G>AClinGen:CA5051927
NM_003995.3(NPR2):c.2281C>T (p.Leu761=)4882NPR2Uncertain significancers1481862376RCV000823336; NMONDO:MONDO:0011275,MedGen:C1864356,OMIM:602875, Orphanet:40; MONDO:MONDO:0014401,MedGen:C4014690,OMIM:615923, Orphanet:32919193580613935806139CT9:g.35806139C>T-
NM_003995.3(NPR2):c.2302T>C (p.Cys768Arg)4882NPR2Pathogenicrs1057519333RCV000416364; NMONDO:MONDO:0011275,MedGen:C1864356,OMIM:602875, Orphanet:4093580616035806160TC9:g.35806160T>CClinGen:CA16044042
NM_003995.3(NPR2):c.2321C>T (p.Ala774Val)4882NPR2Uncertain significancers369154896RCV000513739|RCV001050909; NMedGen:CN517202|MONDO:MONDO:0014401,MedGen:C4014690,OMIM:615923, Orphanet:329191; MONDO:MONDO:0011275,MedGen:C1864356,OMIM:602875, Orphanet:4093580617935806179CT9:g.35806179C>TClinGen:CA5051936CN517202 not provided;
NM_003995.3(NPR2):c.2327G>A (p.Arg776Gln)4882NPR2Uncertain significancers780293535RCV000328406|RCV001166431; NMedGen:CN517202|MONDO:MONDO:0011275,MedGen:C1864356,OMIM:602875, Orphanet:4093580618535806185GA9:g.35806185G>AClinGen:CA5051937CN169374 not specified;
NM_003995.3(NPR2):c.2337T>C (p.Phe779=)4882NPR2Conflicting interpretations of pathogenicityrs115369552RCV000398001|RCV000920824; NMONDO:MONDO:0011275,MedGen:C1864356,OMIM:602875, Orphanet:40|MedGen:CN51720293580619535806195TC9:g.35806195T>CClinGen:CA5051938
NM_003995.4(NPR2):c.2351G>A (p.Gly784Asp)4882NPR2Uncertain significance-1RCV001166432; NMONDO:MONDO:0011275,MedGen:C1864356,OMIM:602875, Orphanet:4093580620935806209GA9:g.35806209G>A-
NM_003995.3(NPR2):c.2359C>T (p.Arg787Trp)4882NPR2Benign/Likely benignrs114147262RCV000952008|RCV001166960; NMONDO:MONDO:0011275,MedGen:C1864356,OMIM:602875, Orphanet:40; MONDO:MONDO:0014401,MedGen:C4014690,OMIM:615923, Orphanet:329191|MONDO:MONDO:0011275,MedGen:C1864356,OMIM:602875, Orphanet:4093580621735806217CT9:g.35806217C>T-
NM_003995.3(NPR2):c.2434T>C (p.Leu812=)4882NPR2Benignrs115119353RCV000952262; NMONDO:MONDO:0011275,MedGen:C1864356,OMIM:602875, Orphanet:40; MONDO:MONDO:0014401,MedGen:C4014690,OMIM:615923, Orphanet:32919193580645035806450TC9:g.35806450T>C-
NM_003995.4(NPR2):c.2460A>C (p.Thr820=)4882NPR2Uncertain significance-1RCV001166961; NMONDO:MONDO:0011275,MedGen:C1864356,OMIM:602875, Orphanet:4093580647635806476AC9:g.35806476A>C-
NM_003995.4(NPR2):c.2519+3G>A4882NPR2Uncertain significance-1RCV001166962; NMONDO:MONDO:0011275,MedGen:C1864356,OMIM:602875, Orphanet:4093580653835806538GA9:g.35806538G>A-
NM_003995.4(NPR2):c.2519+15C>T4882NPR2Uncertain significance-1RCV001166963; NMONDO:MONDO:0011275,MedGen:C1864356,OMIM:602875, Orphanet:4093580655035806550CT9:g.35806550C>T-
NM_003995.4(NPR2):c.2523A>G (p.Ser841=)4882NPR2Uncertain significance-1RCV001166964; NMONDO:MONDO:0011275,MedGen:C1864356,OMIM:602875, Orphanet:4093580702335807023AG9:g.35807023A>G-
NM_003995.4(NPR2):c.2560G>T (p.Ala854Ser)4882NPR2Uncertain significance-1RCV001051659; NMONDO:MONDO:0011275,MedGen:C1864356,OMIM:602875, Orphanet:40; MONDO:MONDO:0014401,MedGen:C4014690,OMIM:615923, Orphanet:32919193580706035807060GT9:g.35807060G>T-
NM_003995.3(NPR2):c.2643+10A>G4882NPR2Benign/Likely benignrs200486126RCV000311986|RCV000950581; NMONDO:MONDO:0011275,MedGen:C1864356,OMIM:602875, Orphanet:40|MONDO:MONDO:0014401,MedGen:C4014690,OMIM:615923, Orphanet:329191; MONDO:MONDO:0011275,MedGen:C1864356,OMIM:602875, Orphanet:4093580715335807153AG9:g.35807153A>GClinGen:CA5052011
NM_003995.3(NPR2):c.2644G>A (p.Val882Ile)4882NPR2Uncertain significancers55700371RCV000652336|RCV001198873; NMONDO:MONDO:0011275,MedGen:C1864356,OMIM:602875, Orphanet:40; MONDO:MONDO:0014401,MedGen:C4014690,OMIM:615923, Orphanet:329191|MONDO:MONDO:0011275,MedGen:C1864356,OMIM:602875, Orphanet:4093580732735807327GA9:g.35807327G>AClinGen:CA5052037C1864356 602875 Acromesomelic dysplasia Maroteaux type;
NM_172312.2(SPAG8):c.1373-201T>A4882NPR2Likely pathogenicrs1563993649RCV000702502; NMONDO:MONDO:0011275,MedGen:C1864356,OMIM:602875, Orphanet:40; MONDO:MONDO:0014401,MedGen:C4014690,OMIM:615923, Orphanet:32919193580850435808504AT9:g.35808504A>T-C1864356 602875 Acromesomelic dysplasia Maroteaux type;
NM_172312.2(SPAG8):c.1373-203C>A4882NPR2Uncertain significancers1357724443RCV000784968; NMONDO:MONDO:0011275,MedGen:C1864356,OMIM:602875, Orphanet:4093580850635808506GT9:g.35808506G>T-
NM_003995.4(NPR2):c.2720C>T (p.Thr907Met)4882NPR2Likely pathogenicrs1311857509RCV001262118; NMONDO:MONDO:0011275,MedGen:C1864356,OMIM:602875, Orphanet:4093580851335808513CT9:g.35808513C>T-
NM_003995.4(NPR2):c.2721G>A (p.Thr907=)4882NPR2Uncertain significance-1RCV001166965; NMONDO:MONDO:0011275,MedGen:C1864356,OMIM:602875, Orphanet:4093580851435808514GA9:g.35808514G>A-
NM_172312.2(SPAG8):c.1373-323G>A4882NPR2Uncertain significancers781398693RCV000390082; NMONDO:MONDO:0011275,MedGen:C1864356,OMIM:602875, Orphanet:4093580862635808626CT9:g.35808626C>TClinGen:CA5052134
NM_003995.4(NPR2):c.2840G>C (p.Arg947Pro)4882NPR2Uncertain significance-1RCV001064788; NMONDO:MONDO:0011275,MedGen:C1864356,OMIM:602875, Orphanet:40; MONDO:MONDO:0014401,MedGen:C4014690,OMIM:615923, Orphanet:32919193580863335808633GC9:g.35808633G>C-
NM_003995.4(NPR2):c.2840G>A (p.Arg947His)4882NPR2Uncertain significance-1RCV001168676; NMONDO:MONDO:0011275,MedGen:C1864356,OMIM:602875, Orphanet:4093580863335808633GA9:g.35808633G>A-
NM_003995.4(NPR2):c.2870G>A (p.Arg957His)4882NPR2Likely pathogenic-1RCV001264759; NMONDO:MONDO:0011275,MedGen:C1864356,OMIM:602875, Orphanet:4093580866335808663GA9:g.35808663G>A-
NM_172312.2(SPAG8):c.1373-456G>T4882NPR2Likely benignrs1011740301RCV000952173; NMONDO:MONDO:0011275,MedGen:C1864356,OMIM:602875, Orphanet:40; MONDO:MONDO:0014401,MedGen:C4014690,OMIM:615923, Orphanet:32919193580875935808759CA9:g.35808759C>A-
NM_172312.2(SPAG8):c.1373-505C>T4882NPR2Pathogenicrs1057519336RCV000416371; NMONDO:MONDO:0011275,MedGen:C1864356,OMIM:602875, Orphanet:4093580880835808808GA9:g.35808808G>AClinGen:CA16044043
NM_003995.4(NPR2):c.3029A>G (p.Asp1010Gly)4882NPR2Uncertain significance-1RCV001262119; NMONDO:MONDO:0011275,MedGen:C1864356,OMIM:602875, Orphanet:4093580919535809195AG9:g.35809195A>G-
NM_172312.2(SPAG8):c.1372+201G>A4882NPR2Likely benignrs772856710RCV000548187; NMONDO:MONDO:0011275,MedGen:C1864356,OMIM:602875, Orphanet:40; MONDO:MONDO:0014401,MedGen:C4014690,OMIM:615923, Orphanet:32919193580920035809200CT9:g.35809200C>TClinGen:CA5052186C1864356 602875 Acromesomelic dysplasia Maroteaux type;
NM_003995.4(NPR2):c.3063G>C (p.Gly1021=)4882NPR2Uncertain significance-1RCV001168677; NMONDO:MONDO:0011275,MedGen:C1864356,OMIM:602875, Orphanet:4093580922935809229GC9:g.35809229G>C-
NM_172312.2(SPAG8):c.1372+16T>G4882NPR2Uncertain significancers138254005RCV000298974|RCV000303783; NMONDO:MONDO:0011275,MedGen:C1864356,OMIM:602875, Orphanet:40|MedGen:CN51720293580938535809385AC9:g.35809385A>CClinGen:CA5052218C0265278 Acromesomelic Dysplasia;
NM_003995.4(NPR2):c.3113_3115del (p.Gly1038del)4882NPR2Uncertain significance-1RCV001263098; NMONDO:MONDO:0011275,MedGen:C1864356,OMIM:602875, Orphanet:4093580940935809411TAGGT9:g.35809409_35809411del-
NM_003995.4(NPR2):c.*2C>T4882NPR2Uncertain significance-1RCV001168678; NMONDO:MONDO:0011275,MedGen:C1864356,OMIM:602875, Orphanet:4093580944435809444CT9:g.35809444C>T-
NM_003995.4(NPR2):c.*270A>T4882NPR2Uncertain significance-1RCV001168679; NMONDO:MONDO:0011275,MedGen:C1864356,OMIM:602875, Orphanet:4093580971235809712AT9:g.35809712A>T-
MSeqDR Portal