MSeqDR Mitochondrial Disease Portal


 
*:HP: HPO terms, UMDF: 1= Disease, ND: NAMDC terms.
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Disease Browser
Parent Node:
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Bone Diseases, Developmental (D001848)
..Starting node
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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.7C>T (p.Leu3=)4882NPR2Likely benign-1RCV002173095; NMONDO:MONDO:0014401,MedGen:C4014690,OMIM:615923, Orphanet:329191; MONDO:MONDO:0011275,MedGen:C1864356,OMIM:602875, Orphanet:4093579241235792412CT35792412-
NM_003995.4(NPR2):c.9G>A (p.Leu3=)4882NPR2Likely benign-1RCV002119164; NMONDO:MONDO:0011275,MedGen:C1864356,OMIM:602875, Orphanet:40; MONDO:MONDO:0014401,MedGen:C4014690,OMIM:615923, Orphanet:32919193579241435792414GA35792414-
NM_003995.4(NPR2):c.14C>A (p.Ser5Ter)4882NPR2Pathogenicrs749952755RCV001260934; NMONDO:MONDO:0011275,MedGen:C1864356,OMIM:602875, Orphanet:4093579241935792419CA9:g.35792419C>A-
NM_003995.4(NPR2):c.18T>C (p.Leu6=)4882NPR2Benignrs2228580RCV000273566|RCV001515144|RCV001712168; 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:329191|MedGen:CN51720293579242335792423TCNC_000009.11:g.35792423T>CClinGen:CA5051390C0265278 Acromesomelic Dysplasia;
NM_003995.4(NPR2):c.36C>T (p.Ala12=)4882NPR2Likely benign-1RCV002202148; NMONDO:MONDO:0011275,MedGen:C1864356,OMIM:602875, Orphanet:40; MONDO:MONDO:0014401,MedGen:C4014690,OMIM:615923, Orphanet:32919193579244135792441CT35792441-
NM_003995.4(NPR2):c.60del (p.Ala22fs)4882NPR2Pathogenic-1RCV001999856; NMONDO:MONDO:0011275,MedGen:C1864356,OMIM:602875, Orphanet:40; MONDO:MONDO:0014401,MedGen:C4014690,OMIM:615923, Orphanet:32919193579246335792463TCT35792462-
NM_003995.4(NPR2):c.64G>T (p.Ala22Ser)4882NPR2Conflicting interpretations of pathogenicityrs140014632RCV000173314|RCV000768034|RCV000952311; NMedGen:CN169374|MONDO:MONDO:0011275,MedGen:C1864356,OMIM:602875, Orphanet:40; 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; MONDO93579246935792469GT9:g.35792469G>TClinGen:CA200453CN169374 not specified;
NM_003995.4(NPR2):c.65C>T (p.Ala22Val)4882NPR2Uncertain significancers1827813477RCV001346394; NMONDO:MONDO:0011275,MedGen:C1864356,OMIM:602875, Orphanet:40; MONDO:MONDO:0014401,MedGen:C4014690,OMIM:615923, Orphanet:32919193579247035792470CT35792470-
NM_003995.4(NPR2):c.85G>A (p.Val29Met)4882NPR2Uncertain significance-1RCV001936105; NMONDO:MONDO:0014401,MedGen:C4014690,OMIM:615923, Orphanet:329191; MONDO:MONDO:0011275,MedGen:C1864356,OMIM:602875, Orphanet:4093579249035792490GA35792490-
NM_003995.4(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_003995.4(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_003995.4(NPR2):c.98A>C (p.Glu33Ala)4882NPR2Uncertain significancers886063909RCV000333349; NMONDO:MONDO:0011275,MedGen:C1864356,OMIM:602875, Orphanet:4093579250335792503ACNC_000009.11:g.35792503A>CClinGen:CA10627306C0265278 Acromesomelic Dysplasia;
NM_003995.4(NPR2):c.127C>G (p.Pro43Ala)4882NPR2Uncertain significance-1RCV001930327; NMONDO:MONDO:0011275,MedGen:C1864356,OMIM:602875, Orphanet:40; MONDO:MONDO:0014401,MedGen:C4014690,OMIM:615923, Orphanet:32919193579253235792532CG35792532-
NM_003995.4(NPR2):c.155C>A (p.Ala52Asp)4882NPR2Uncertain significancers1827817304RCV001218352; 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 significancers1588050194RCV001166892; NMONDO:MONDO:0011275,MedGen:C1864356,OMIM:602875, Orphanet:4093579259535792595CT9:g.35792595C>T-
NM_003995.4(NPR2):c.193C>T (p.Arg65Trp)4882NPR2Uncertain significance-1RCV001961301; NMONDO:MONDO:0014401,MedGen:C4014690,OMIM:615923, Orphanet:329191; MONDO:MONDO:0011275,MedGen:C1864356,OMIM:602875, Orphanet:4093579259835792598CT35792598-
NM_003995.4(NPR2):c.194G>A (p.Arg65Gln)4882NPR2Uncertain significance-1RCV001994089; NMONDO:MONDO:0011275,MedGen:C1864356,OMIM:602875, Orphanet:40; MONDO:MONDO:0014401,MedGen:C4014690,OMIM:615923, Orphanet:32919193579259935792599GA35792599-
NM_003995.4(NPR2):c.263A>C (p.Lys88Thr)4882NPR2Uncertain significancers1349881219RCV001294625; NMONDO:MONDO:0011275,MedGen:C1864356,OMIM:602875, Orphanet:40; MONDO:MONDO:0014401,MedGen:C4014690,OMIM:615923, Orphanet:32919193579266835792668AC35792668-
NM_003995.4(NPR2):c.264G>T (p.Lys88Asn)4882NPR2Uncertain significance-1RCV001988541; NMONDO:MONDO:0011275,MedGen:C1864356,OMIM:602875, Orphanet:40; MONDO:MONDO:0014401,MedGen:C4014690,OMIM:615923, Orphanet:32919193579266935792669GT35792669-
NM_003995.4(NPR2):c.298G>A (p.Gly100Ser)4882NPR2Likely pathogenicrs753644648RCV000856598; NMONDO:MONDO:0011275,MedGen:C1864356,OMIM:602875, Orphanet:4093579270335792703GA9:g.35792703G>A-
NM_003995.4(NPR2):c.312T>C (p.Pro104=)4882NPR2Uncertain significancers886063910RCV000369095; NMONDO:MONDO:0011275,MedGen:C1864356,OMIM:602875, Orphanet:4093579271735792717TCNC_000009.11:g.35792717T>CClinGen:CA10630042C0265278 Acromesomelic Dysplasia;
NM_003995.4(NPR2):c.328C>T (p.Arg110Cys)4882NPR2Uncertain significancers758478717RCV000190431|RCV001263517|RCV001857670|RCV001781561; NMONDO:MONDO:0014551,MedGen:C4225399,OMIM:616255|MONDO: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:329191|MedGen:CN51720293579273335792733CT9:g.35792733C>TClinGen:CA204432,UniProtKB:P20594#VAR_074679,OMIM:108961.0012C4225399 616255 Short stature with nonspecific skeletal abnormalities;
NM_003995.4(NPR2):c.329G>A (p.Arg110His)4882NPR2Uncertain significancers1827825533RCV001260933; NMONDO:MONDO:0011275,MedGen:C1864356,OMIM:602875, Orphanet:4093579273435792734GA9:g.35792734G>A-
NM_003995.4(NPR2):c.336C>G (p.Ala112=)4882NPR2Uncertain significancers533386555RCV000260578; NMONDO:MONDO:0011275,MedGen:C1864356,OMIM:602875, Orphanet:4093579274135792741CGNC_000009.11:g.35792741C>GClinGen:CA5051435C0265278 Acromesomelic Dysplasia;
NM_003995.4(NPR2):c.342C>T (p.His114=)4882NPR2Likely benign-1RCV002122457; NMONDO:MONDO:0011275,MedGen:C1864356,OMIM:602875, Orphanet:40; MONDO:MONDO:0014401,MedGen:C4014690,OMIM:615923, Orphanet:32919193579274735792747CT35792747-
NM_003995.4(NPR2):c.343T>G (p.Trp115Gly)4882NPR2Pathogenicrs28931582RCV000019363; NMONDO:MONDO:0011275,MedGen:C1864356,OMIM:602875, Orphanet:4093579274835792748TG9:g.35792748T>GClinGen:CA250693,UniProtKB:P20594#VAR_022584,OMIM:108961.0002C1864356 602875 Acromesomelic dysplasia Maroteaux type;
NM_003995.4(NPR2):c.366G>A (p.Ala122=)4882NPR2Uncertain significance-1RCV002009088; NMONDO:MONDO:0011275,MedGen:C1864356,OMIM:602875, Orphanet:40; MONDO:MONDO:0014401,MedGen:C4014690,OMIM:615923, Orphanet:32919193579277135792771GA35792771-
NM_003995.4(NPR2):c.390G>A (p.Ser130=)4882NPR2Uncertain significance-1RCV001957291; NMONDO:MONDO:0011275,MedGen:C1864356,OMIM:602875, Orphanet:40; MONDO:MONDO:0014401,MedGen:C4014690,OMIM:615923, Orphanet:32919193579279535792795GA35792795-
NM_003995.4(NPR2):c.422G>A (p.Arg141His)4882NPR2Uncertain significancers1827828857RCV001263519; NMONDO:MONDO:0011275,MedGen:C1864356,OMIM:602875, Orphanet:4093579282735792827GA9:g.35792827G>A-
NM_003995.4(NPR2):c.448G>A (p.Gly150Ser)4882NPR2Pathogenic-1RCV001806315; NMONDO:MONDO:0011275,MedGen:C1864356,OMIM:602875, Orphanet:4093579285335792853GA35792853-
NM_003995.4(NPR2):c.471C>T (p.His157=)4882NPR2Likely benignrs140924915RCV000952261|RCV001451118; NMedGen:CN517202|MONDO:MONDO:0011275,MedGen:C1864356,OMIM:602875, Orphanet:40; MONDO:MONDO:0014401,MedGen:C4014690,OMIM:615923, Orphanet:32919193579287635792876CT9:g.35792876C>T-
NM_003995.4(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 significancers781334893RCV001197478|RCV001253507|RCV001859192; NMONDO:MONDO:0011275,MedGen:C1864356,OMIM:602875, Orphanet:40|MONDO:MONDO:0014551,MedGen:C4225399,OMIM:616255|MONDO:MONDO:0011275,MedGen:C1864356,OMIM:602875, Orphanet:40; MONDO:MONDO:0014401,MedGen:C4014690,OMIM:615923, Orphanet:32919193579289935792899GA9:g.35792899G>A-
NM_003995.4(NPR2):c.507del (p.Tyr170fs)4882NPR2Pathogenic-1RCV001887174; NMONDO:MONDO:0011275,MedGen:C1864356,OMIM:602875, Orphanet:40; MONDO:MONDO:0014401,MedGen:C4014690,OMIM:615923, Orphanet:32919193579291235792912TGT35792911-
NM_003995.4(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_003995.4(NPR2):c.552C>T (p.Ile184=)4882NPR2Likely benign-1RCV002170687; NMONDO:MONDO:0014401,MedGen:C4014690,OMIM:615923, Orphanet:329191; MONDO:MONDO:0011275,MedGen:C1864356,OMIM:602875, Orphanet:4093579295735792957CT35792957-
NM_003995.4(NPR2):c.560T>A (p.Val187Asp)4882NPR2Pathogenicrs1057519335RCV000416349; NMONDO:MONDO:0011275,MedGen:C1864356,OMIM:602875, Orphanet:4093579296535792965TANC_000009.11:g.35792965T>AClinGen:CA16044040C1864356 602875 Acromesomelic dysplasia Maroteaux type;
NM_003995.4(NPR2):c.613C>T (p.Arg205Ter)4882NPR2Pathogenic-1RCV001942099; NMONDO:MONDO:0011275,MedGen:C1864356,OMIM:602875, Orphanet:40; MONDO:MONDO:0014401,MedGen:C4014690,OMIM:615923, Orphanet:32919193579301835793018CT35793018-
NM_003995.4(NPR2):c.631G>A (p.Glu211Lys)4882NPR2Uncertain significance-1RCV002051187; NMONDO:MONDO:0011275,MedGen:C1864356,OMIM:602875, Orphanet:40; MONDO:MONDO:0014401,MedGen:C4014690,OMIM:615923, Orphanet:32919193579303635793036GA35793036-
NM_003995.4(NPR2):c.649A>T (p.Ile217Phe)4882NPR2Conflicting interpretations of pathogenicityrs191155989RCV000315791|RCV000946345; 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:32919193579305435793054ATNC_000009.11:g.35793054A>TClinGen:CA5051478C0265278 Acromesomelic Dysplasia;
NM_003995.4(NPR2):c.652C>T (p.Arg218Trp)4882NPR2Uncertain significancers746376766RCV001340432; NMONDO:MONDO:0011275,MedGen:C1864356,OMIM:602875, Orphanet:40; MONDO:MONDO:0014401,MedGen:C4014690,OMIM:615923, Orphanet:32919193579305735793057CT35793057-
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|RCV001298442; 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:32919193579306635793066GA9:g.35793066G>A-
NM_003995.4(NPR2):c.667+11C>A4882NPR2Likely benign-1RCV002192947; NMONDO:MONDO:0011275,MedGen:C1864356,OMIM:602875, Orphanet:40; MONDO:MONDO:0014401,MedGen:C4014690,OMIM:615923, Orphanet:32919193579308335793083CA35793083-
NM_003995.4(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_003995.4(NPR2):c.681C>G (p.Cys227Trp)4882NPR2Uncertain significance-1RCV001983995; NMONDO:MONDO:0011275,MedGen:C1864356,OMIM:602875, Orphanet:40; MONDO:MONDO:0014401,MedGen:C4014690,OMIM:615923, Orphanet:32919193579390835793908CG35793908-
NM_003995.4(NPR2):c.697C>T (p.Leu233=)4882NPR2Conflicting interpretations of pathogenicityrs61758518RCV000598099|RCV001168606|RCV001493441; NMedGen:CN517202|MONDO: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:32919193579392435793924CT9:g.35793924C>TClinGen:CA5051503CN169374 not specified;
NM_003995.4(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_003995.4(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:32919193579395235793952GANC_000009.11:g.35793952G>AClinGen:CA5051505C0265278 Acromesomelic Dysplasia;
NM_003995.4(NPR2):c.748del (p.Tyr250fs)4882NPR2Pathogenicrs1827867580RCV001263531; NMONDO:MONDO:0011275,MedGen:C1864356,OMIM:602875, Orphanet:4093579397435793974ATA9:g.35793974_35793974del-
NM_003995.4(NPR2):c.749A>G (p.Tyr250Cys)4882NPR2Uncertain significancers1243598210RCV001301270|RCV001595075; NMONDO:MONDO:0011275,MedGen:C1864356,OMIM:602875, Orphanet:40; MONDO:MONDO:0014401,MedGen:C4014690,OMIM:615923, Orphanet:329191|MedGen:CN51720293579397635793976AG35793976-
NM_003995.4(NPR2):c.753CTT[1] (p.Phe253del)4882NPR2Uncertain significance-1RCV002044356; NMONDO:MONDO:0011275,MedGen:C1864356,OMIM:602875, Orphanet:40; MONDO:MONDO:0014401,MedGen:C4014690,OMIM:615923, Orphanet:32919193579397935793981GTCTG35793978-
NM_003995.4(NPR2):c.788G>A (p.Arg263His)4882NPR2Uncertain significancers139036657RCV001348167|RCV001358437; NMONDO:MONDO:0011275,MedGen:C1864356,OMIM:602875, Orphanet:40; MONDO:MONDO:0014401,MedGen:C4014690,OMIM:615923, Orphanet:329191|MedGen:CN51720293579401535794015GA35794015-
NM_003995.4(NPR2):c.815G>A (p.Arg272Gln)4882NPR2Uncertain significance-1RCV001976613; NMONDO:MONDO:0011275,MedGen:C1864356,OMIM:602875, Orphanet:40; MONDO:MONDO:0014401,MedGen:C4014690,OMIM:615923, Orphanet:32919193579404235794042GA35794042-
NM_003995.4(NPR2):c.830A>G (p.Asn277Ser)4882NPR2Uncertain significancers770531192RCV000622943|RCV001049354|RCV001168607|RCV001796144; NMeSH:D030342,MedGen:C0950123|MONDO:MONDO:0014401,MedGen:C4014690,OMIM:615923, Orphanet:329191; MONDO:MONDO:0011275,MedGen:C1864356,OMIM:602875, Orphanet:40|MONDO:MONDO:0011275,MedGen:C1864356,OMIM:602875, Orphanet:40|MedGen:CN51720293579405735794057AG9:g.35794057A>GClinGen:CA5051522C0950123 Inborn genetic diseases;
NM_003995.4(NPR2):c.833G>A (p.Arg278His)4882NPR2Uncertain significancers114995755RCV001168608; NMONDO:MONDO:0011275,MedGen:C1864356,OMIM:602875, Orphanet:4093579406035794060GA9:g.35794060G>A-
NM_003995.4(NPR2):c.853G>A (p.Ala285Thr)4882NPR2Uncertain significancers886063911RCV000266103; NMONDO:MONDO:0011275,MedGen:C1864356,OMIM:602875, Orphanet:4093579408035794080GANC_000009.11:g.35794080G>AClinGen:CA10633969C0265278 Acromesomelic Dysplasia;
NM_003995.4(NPR2):c.863A>G (p.Glu288Gly)4882NPR2Uncertain significance-1RCV001916746; NMONDO:MONDO:0011275,MedGen:C1864356,OMIM:602875, Orphanet:40; MONDO:MONDO:0014401,MedGen:C4014690,OMIM:615923, Orphanet:32919193579409035794090AG35794090-
NM_003995.4(NPR2):c.863A>C (p.Glu288Ala)4882NPR2Uncertain significance-1RCV001964731; NMONDO:MONDO:0014401,MedGen:C4014690,OMIM:615923, Orphanet:329191; MONDO:MONDO:0011275,MedGen:C1864356,OMIM:602875, Orphanet:4093579409035794090AC35794090-
NM_003995.4(NPR2):c.866C>A (p.Ala289Asp)4882NPR2Uncertain significancers915823109RCV001263518; NMONDO:MONDO:0011275,MedGen:C1864356,OMIM:602875, Orphanet:4093579409335794093CA9:g.35794093C>A-
NM_003995.4(NPR2):c.873+3A>G4882NPR2Uncertain significancers1827874317RCV001264760; NMONDO:MONDO:0011275,MedGen:C1864356,OMIM:602875, Orphanet:4093579410335794103AG9:g.35794103A>G-
NM_003995.4(NPR2):c.873+8T>C4882NPR2Likely benign-1RCV001940192; NMONDO:MONDO:0011275,MedGen:C1864356,OMIM:602875, Orphanet:40; MONDO:MONDO:0014401,MedGen:C4014690,OMIM:615923, Orphanet:32919193579410835794108TC35794108-
NM_003995.4(NPR2):c.873+13C>A4882NPR2Benign/Likely benignrs61758520RCV000321234|RCV002058801; 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:32919193579411335794113CANC_000009.11:g.35794113C>AClinGen:CA5051537C0265278 Acromesomelic Dysplasia;
GRCh37/hg19 9p13.3(chr9:35799615-35808850)4882NPR2Pathogenic-1RCV001254041; NMONDO:MONDO:0011275,MedGen:C1864356,OMIM:602875, Orphanet:4093579961535808850nana-1-
NM_003995.4(NPR2):c.880T>C (p.Leu294=)4882NPR2Likely benign-1RCV002218465; NMONDO:MONDO:0011275,MedGen:C1864356,OMIM:602875, Orphanet:40; MONDO:MONDO:0014401,MedGen:C4014690,OMIM:615923, Orphanet:32919193579962135799621TC35799621-
NM_003995.4(NPR2):c.915G>A (p.Glu305=)4882NPR2Benignrs773637376RCV000938004|RCV001512778; NMedGen:CN517202|MONDO:MONDO:0011275,MedGen:C1864356,OMIM:602875, Orphanet:40; MONDO:MONDO:0014401,MedGen:C4014690,OMIM:615923, Orphanet:32919193579965635799656GA9:g.35799656G>A-
NM_003995.4(NPR2):c.935G>A (p.Arg312His)4882NPR2Uncertain significance-1RCV001889819; NMONDO:MONDO:0011275,MedGen:C1864356,OMIM:602875, Orphanet:40; MONDO:MONDO:0014401,MedGen:C4014690,OMIM:615923, Orphanet:32919193579967635799676GA35799676-
NM_003995.4(NPR2):c.952C>T (p.Arg318Trp)4882NPR2Uncertain significancers764711038RCV001168609|RCV001873559; 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:32919193579969335799693CT9:g.35799693C>T-
NM_003995.4(NPR2):c.953G>A (p.Arg318Gln)4882NPR2Uncertain significancers144940095RCV001296868; NMONDO:MONDO:0014401,MedGen:C4014690,OMIM:615923, Orphanet:329191; MONDO:MONDO:0011275,MedGen:C1864356,OMIM:602875, Orphanet:4093579969435799694GA35799694-
NM_003995.4(NPR2):c.966T>C (p.Gly322=)4882NPR2Likely benignrs746736321RCV000922341; NMONDO:MONDO:0014401,MedGen:C4014690,OMIM:615923, Orphanet:329191; MONDO:MONDO:0011275,MedGen:C1864356,OMIM:602875, Orphanet:4093579970735799707TC9:g.35799707T>C-
NM_003995.4(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_003995.4(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_003995.4(NPR2):c.988-6C>A4882NPR2Uncertain significance-1RCV001888330; NMONDO:MONDO:0011275,MedGen:C1864356,OMIM:602875, Orphanet:40; MONDO:MONDO:0014401,MedGen:C4014690,OMIM:615923, Orphanet:32919193580001335800013CA35800013-
NM_003995.4(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 significancers1828087195RCV001263097; NMONDO:MONDO:0011275,MedGen:C1864356,OMIM:602875, Orphanet:4093580004435800044AG9:g.35800044A>G-
NM_003995.4(NPR2):c.1038A>G (p.Glu346=)4882NPR2Likely benign-1RCV002185740; NMONDO:MONDO:0011275,MedGen:C1864356,OMIM:602875, Orphanet:40; MONDO:MONDO:0014401,MedGen:C4014690,OMIM:615923, Orphanet:32919193580006935800069AG35800069-
NM_003995.4(NPR2):c.1043T>C (p.Leu348Pro)4882NPR2Likely pathogenicrs1828089061RCV001248807; NMONDO:MONDO:0011275,MedGen:C1864356,OMIM:602875, Orphanet:4093580007435800074TC9:g.35800074T>C-
NM_003995.4(NPR2):c.1070C>T (p.Thr357Ile)4882NPR2Uncertain significance-1RCV001962672; NMONDO:MONDO:0011275,MedGen:C1864356,OMIM:602875, Orphanet:40; MONDO:MONDO:0014401,MedGen:C4014690,OMIM:615923, Orphanet:32919193580010135800101CT35800101-
NM_003995.4(NPR2):c.1072C>T (p.Arg358Trp)4882NPR2Uncertain significance-1RCV001903652; NMONDO:MONDO:0011275,MedGen:C1864356,OMIM:602875, Orphanet:40; MONDO:MONDO:0014401,MedGen:C4014690,OMIM:615923, Orphanet:32919193580010335800103CT35800103-
NM_003995.4(NPR2):c.1088G>A (p.Arg363Gln)4882NPR2Uncertain significance-1RCV001962131; NMONDO:MONDO:0011275,MedGen:C1864356,OMIM:602875, Orphanet:40; MONDO:MONDO:0014401,MedGen:C4014690,OMIM:615923, Orphanet:32919193580011935800119GA35800119-
NM_003995.4(NPR2):c.1092del (p.Ile364fs)4882NPR2Pathogenicrs879255257RCV000190426|RCV000190427|RCV001385132; NMONDO:MONDO:0011275,MedGen:C1864356,OMIM:602875, Orphanet:40|MONDO:MONDO:0014551,MedGen:C4225399,OMIM:616255|MONDO:MONDO:0011275,MedGen:C1864356,OMIM:602875, Orphanet:40; MONDO:MONDO:0014401,MedGen:C4014690,OMIM:615923, Orphanet:32919193580012235800122ATANC_000009.11:g.35800123delClinGen:CA5051601,OMIM:108961.0008C1864356 602875 Acromesomelic dysplasia Maroteaux type;
NM_003995.4(NPR2):c.1111C>T (p.Arg371Ter)4882NPR2Pathogenic-1RCV001808880; NMONDO:MONDO:0011275,MedGen:C1864356,OMIM:602875, Orphanet:4093580014235800142CT35800142-
NM_003995.4(NPR2):c.1123G>C (p.Gly375Arg)4882NPR2Uncertain significancers1828095529RCV001217004; NMONDO:MONDO:0011275,MedGen:C1864356,OMIM:602875, Orphanet:40; MONDO:MONDO:0014401,MedGen:C4014690,OMIM:615923, Orphanet:32919193580015435800154GC9:g.35800154G>C-
NM_003995.4(NPR2):c.1123G>A (p.Gly375Ser)4882NPR2Uncertain significance-1RCV001978953; NMONDO:MONDO:0014401,MedGen:C4014690,OMIM:615923, Orphanet:329191; MONDO:MONDO:0011275,MedGen:C1864356,OMIM:602875, Orphanet:4093580015435800154GA35800154-
NM_003995.4(NPR2):c.1123+5T>A4882NPR2Uncertain significance-1RCV002023877; NMONDO:MONDO:0011275,MedGen:C1864356,OMIM:602875, Orphanet:40; MONDO:MONDO:0014401,MedGen:C4014690,OMIM:615923, Orphanet:32919193580015935800159TA35800159-
NM_003995.4(NPR2):c.1124-7G>A4882NPR2Likely benign-1RCV002142620; NMONDO:MONDO:0014401,MedGen:C4014690,OMIM:615923, Orphanet:329191; MONDO:MONDO:0011275,MedGen:C1864356,OMIM:602875, Orphanet:4093580037935800379GA35800379-
NM_003995.4(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>T (p.Arg388Ter)4882NPR2Pathogenicrs121912739RCV000019365|RCV001385133; 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:4093580042435800424CT9:g.35800424C>TClinGen:CA250695,OMIM:108961.0004C1864356 602875 Acromesomelic dysplasia Maroteaux type;
NM_003995.4(NPR2):c.1163G>A (p.Arg388Gln)4882NPR2Uncertain significancers1828106198RCV001261879; NMONDO:MONDO:0011275,MedGen:C1864356,OMIM:602875, Orphanet:4093580042535800425GA9:g.35800425G>A-
NM_003995.4(NPR2):c.1198C>G (p.Leu400Val)4882NPR2Uncertain significancers758564951RCV001248019; NMONDO:MONDO:0011275,MedGen:C1864356,OMIM:602875, Orphanet:40; MONDO:MONDO:0014401,MedGen:C4014690,OMIM:615923, Orphanet:32919193580046035800460CG9:g.35800460C>G-
NM_003995.4(NPR2):c.1209G>A (p.Gly403=)4882NPR2Likely benign-1RCV002120266; NMONDO:MONDO:0011275,MedGen:C1864356,OMIM:602875, Orphanet:40; MONDO:MONDO:0014401,MedGen:C4014690,OMIM:615923, Orphanet:32919193580047135800471GA35800471-
NM_003995.4(NPR2):c.1215del (p.Gln406fs)4882NPR2Pathogenicrs1828107536RCV001264761; NMONDO:MONDO:0011275,MedGen:C1864356,OMIM:602875, Orphanet:4093580047535800475CTC9:g.35800475_35800475del-
NM_003995.4(NPR2):c.1215T>C (p.Phe405=)4882NPR2Likely benign-1RCV002138417; NMONDO:MONDO:0011275,MedGen:C1864356,OMIM:602875, Orphanet:40; MONDO:MONDO:0014401,MedGen:C4014690,OMIM:615923, Orphanet:32919193580047735800477TC35800477-
NM_003995.4(NPR2):c.1223C>T (p.Ala408Val)4882NPR2Uncertain significance-1RCV002003758; NMONDO:MONDO:0011275,MedGen:C1864356,OMIM:602875, Orphanet:40; MONDO:MONDO:0014401,MedGen:C4014690,OMIM:615923, Orphanet:32919193580071035800710CT35800710-
NM_003995.4(NPR2):c.1225G>A (p.Ala409Thr)4882NPR2Uncertain significance-1RCV001984760; NMONDO:MONDO:0011275,MedGen:C1864356,OMIM:602875, Orphanet:40; MONDO:MONDO:0014401,MedGen:C4014690,OMIM:615923, Orphanet:32919193580071235800712GA35800712-
NM_003995.4(NPR2):c.1227C>T (p.Ala409=)4882NPR2Likely benign-1RCV002135144; NMONDO:MONDO:0014401,MedGen:C4014690,OMIM:615923, Orphanet:329191; MONDO:MONDO:0011275,MedGen:C1864356,OMIM:602875, Orphanet:4093580071435800714CT35800714-
NM_003995.4(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.1262C>T (p.Thr421Met)4882NPR2Uncertain significance-1RCV001906398; NMONDO:MONDO:0011275,MedGen:C1864356,OMIM:602875, Orphanet:40; MONDO:MONDO:0014401,MedGen:C4014690,OMIM:615923, Orphanet:32919193580074935800749CT35800749-
NM_003995.4(NPR2):c.1268G>A (p.Arg423Gln)4882NPR2Uncertain significancers766433291RCV001214587; NMONDO:MONDO:0011275,MedGen:C1864356,OMIM:602875, Orphanet:40; MONDO:MONDO:0014401,MedGen:C4014690,OMIM:615923, Orphanet:32919193580075535800755GA9:g.35800755G>A-
NM_003995.4(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 significancers778410447RCV001046360; NMONDO:MONDO:0011275,MedGen:C1864356,OMIM:602875, Orphanet:40; MONDO:MONDO:0014401,MedGen:C4014690,OMIM:615923, Orphanet:32919193580080035800800CT9:g.35800800C>T-
NM_003995.4(NPR2):c.1324G>A (p.Asp442Asn)4882NPR2Uncertain significance-1RCV002043358; NMONDO:MONDO:0011275,MedGen:C1864356,OMIM:602875, Orphanet:40; MONDO:MONDO:0014401,MedGen:C4014690,OMIM:615923, Orphanet:32919193580081135800811GA35800811-
NM_003995.4(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.1352-13A>G4882NPR2Likely benign-1RCV002112162; NMONDO:MONDO:0011275,MedGen:C1864356,OMIM:602875, Orphanet:40; MONDO:MONDO:0014401,MedGen:C4014690,OMIM:615923, Orphanet:32919193580105435801054AG35801054-
NM_003995.4(NPR2):c.1368G>A (p.Leu456=)4882NPR2Uncertain significancers1480587869RCV001043084; NMONDO:MONDO:0011275,MedGen:C1864356,OMIM:602875, Orphanet:40; MONDO:MONDO:0014401,MedGen:C4014690,OMIM:615923, Orphanet:32919193580108335801083GA9:g.35801083G>A-
NM_003995.4(NPR2):c.1386C>T (p.Gly462=)4882NPR2Uncertain significance-1RCV001896611; NMONDO:MONDO:0011275,MedGen:C1864356,OMIM:602875, Orphanet:40; MONDO:MONDO:0014401,MedGen:C4014690,OMIM:615923, Orphanet:32919193580110135801101CT35801101-
NM_003995.4(NPR2):c.1388C>T (p.Thr463Ile)4882NPR2Uncertain significance-1RCV001969347; NMONDO:MONDO:0011275,MedGen:C1864356,OMIM:602875, Orphanet:40; MONDO:MONDO:0014401,MedGen:C4014690,OMIM:615923, Orphanet:32919193580110335801103CT35801103-
NM_003995.4(NPR2):c.1403T>G (p.Ile468Ser)4882NPR2Uncertain significancers886063912RCV000380355; NMONDO:MONDO:0011275,MedGen:C1864356,OMIM:602875, Orphanet:4093580111835801118TGNC_000009.11:g.35801118T>GClinGen:CA10627307C0265278 Acromesomelic Dysplasia;
NM_003995.4(NPR2):c.1435C>T (p.Arg479Ter)4882NPR2Pathogenic/Likely pathogenicrs1057519324RCV000416343|RCV001262820|RCV001572044; NMONDO:MONDO:0011275,MedGen:C1864356,OMIM:602875, Orphanet:40|MONDO:MONDO:0014551,MedGen:C4225399,OMIM:616255|MedGen:CN51720293580115035801150CTNC_000009.11:g.35801150C>TClinGen:CA16044039C1864356 602875 Acromesomelic dysplasia Maroteaux type;
NM_003995.4(NPR2):c.1437-3C>T4882NPR2Uncertain significancers1181538946RCV001169367; NMONDO:MONDO:0011275,MedGen:C1864356,OMIM:602875, Orphanet:4093580163735801637CT9:g.35801637C>T-
NM_003995.4(NPR2):c.1478G>A (p.Arg493His)4882NPR2Uncertain significance-1RCV001953210; NMONDO:MONDO:0014401,MedGen:C4014690,OMIM:615923, Orphanet:329191; MONDO:MONDO:0011275,MedGen:C1864356,OMIM:602875, Orphanet:4093580168135801681GA35801681-
NM_003995.4(NPR2):c.1517G>A (p.Arg506His)4882NPR2Uncertain significancers114115939RCV001045867; 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 significancers1828173261RCV001218351; NMONDO:MONDO:0011275,MedGen:C1864356,OMIM:602875, Orphanet:40; MONDO:MONDO:0014401,MedGen:C4014690,OMIM:615923, Orphanet:32919193580175035801750CT9:g.35801750C>T-
NM_003995.4(NPR2):c.1554G>A (p.Ser518=)4882NPR2Likely benignrs190753852RCV000903645; NMONDO:MONDO:0014401,MedGen:C4014690,OMIM:615923, Orphanet:329191; MONDO:MONDO:0011275,MedGen:C1864356,OMIM:602875, Orphanet:4093580175735801757GA9:g.35801757G>A-
NM_003995.4(NPR2):c.1557+1G>A4882NPR2Likely pathogenic-1RCV001378048|RCV001535596; 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:40; MONDO:MONDO:0014401,MedGen:C4014690,OMIM:615923, Orphanet:329191; MONDO93580176135801761GA35801761-
NM_003995.4(NPR2):c.1572C>T (p.Tyr524=)4882NPR2Conflicting interpretations of pathogenicityrs150393424RCV000286069|RCV000950933|RCV001503161; NMONDO:MONDO:0011275,MedGen:C1864356,OMIM:602875, Orphanet:40|MedGen:CN517202|MONDO:MONDO:0011275,MedGen:C1864356,OMIM:602875, Orphanet:40; MONDO:MONDO:0014401,MedGen:C4014690,OMIM:615923, Orphanet:32919193580193735801937CTNC_000009.11:g.35801937C>TClinGen:CA5051734C0265278 Acromesomelic Dysplasia;
NM_003995.4(NPR2):c.1575C>A (p.Gly525=)4882NPR2Likely benign-1RCV002137833; NMONDO:MONDO:0011275,MedGen:C1864356,OMIM:602875, Orphanet:40; MONDO:MONDO:0014401,MedGen:C4014690,OMIM:615923, Orphanet:32919193580194035801940CA35801940-
NM_003995.4(NPR2):c.1577C>A (p.Ser526Ter)4882NPR2Likely pathogenic-1RCV001808224; NMONDO:MONDO:0011275,MedGen:C1864356,OMIM:602875, Orphanet:4093580194235801942CA35801942-
NM_003995.4(NPR2):c.1589C>A (p.Ala530Asp)4882NPR2Uncertain significancers1828184008RCV001338924; NMONDO:MONDO:0011275,MedGen:C1864356,OMIM:602875, Orphanet:40; MONDO:MONDO:0014401,MedGen:C4014690,OMIM:615923, Orphanet:32919193580195435801954CA35801954-
NM_003995.4(NPR2):c.1621G>A (p.Gly541Ser)4882NPR2Uncertain significance-1RCV001873113; NMONDO:MONDO:0011275,MedGen:C1864356,OMIM:602875, Orphanet:40; MONDO:MONDO:0014401,MedGen:C4014690,OMIM:615923, Orphanet:32919193580198635801986GA35801986-
NM_003995.4(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_003995.4(NPR2):c.1633-10C>A4882NPR2Benign/Likely benignrs201550050RCV000878601|RCV001169368|RCV001519763; NMedGen:CN517202|MONDO: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:32919193580219335802193CA9:g.35802193C>A-
NM_003995.4(NPR2):c.1636A>T (p.Asn546Tyr)4882NPR2Uncertain significancers138315850RCV001222851; NMONDO:MONDO:0011275,MedGen:C1864356,OMIM:602875, Orphanet:40; MONDO:MONDO:0014401,MedGen:C4014690,OMIM:615923, Orphanet:32919193580220635802206AT9:g.35802206A>T-
NM_003995.4(NPR2):c.1644C>T (p.Val548=)4882NPR2Uncertain significancers772510686RCV000345822; NMONDO:MONDO:0011275,MedGen:C1864356,OMIM:602875, Orphanet:4093580221435802214CTNC_000009.11:g.35802214C>TClinGen:CA5051771C0265278 Acromesomelic Dysplasia;
NM_003995.4(NPR2):c.1650C>T (p.Ile550=)4882NPR2Likely benign-1RCV002108903; NMONDO:MONDO:0011275,MedGen:C1864356,OMIM:602875, Orphanet:40; MONDO:MONDO:0014401,MedGen:C4014690,OMIM:615923, Orphanet:32919193580222035802220CT35802220-
NM_003995.4(NPR2):c.1670G>A (p.Arg557His)4882NPR2Uncertain significance-1RCV001730094|RCV001861028; NMONDO:MONDO:0014551,MedGen:C4225399,OMIM:616255|MONDO:MONDO:0011275,MedGen:C1864356,OMIM:602875, Orphanet:40; MONDO:MONDO:0014401,MedGen:C4014690,OMIM:615923, Orphanet:32919193580224035802240GA35802240-
NM_003995.4(NPR2):c.1673T>C (p.Ile558Thr)4882NPR2Conflicting interpretations of pathogenicityrs751324720RCV001302840|RCV001261881; 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:4093580224335802243TC9:g.35802243T>C-
NM_003995.4(NPR2):c.1684C>T (p.Arg562Trp)4882NPR2Uncertain significancers566096931RCV000728874|RCV001345857; NMedGen:CN517202|MONDO:MONDO:0011275,MedGen:C1864356,OMIM:602875, Orphanet:40; MONDO:MONDO:0014401,MedGen:C4014690,OMIM:615923, Orphanet:32919193580225435802254CTNC_000009.11:g.35802254C>T-
NM_003995.4(NPR2):c.1699G>T (p.Glu567Ter)4882NPR2Pathogenic-1RCV002037864; NMONDO:MONDO:0011275,MedGen:C1864356,OMIM:602875, Orphanet:40; MONDO:MONDO:0014401,MedGen:C4014690,OMIM:615923, Orphanet:32919193580226935802269GT35802269-
NM_003995.4(NPR2):c.1710+16_1710+19dup4882NPR2Likely benign-1RCV002110658; NMONDO:MONDO:0011275,MedGen:C1864356,OMIM:602875, Orphanet:40; MONDO:MONDO:0014401,MedGen:C4014690,OMIM:615923, Orphanet:32919193580229235802293AAGGAT35802292-
NM_003995.4(NPR2):c.1711-9T>G4882NPR2Uncertain significancers777590147RCV001169369; NMONDO:MONDO:0011275,MedGen:C1864356,OMIM:602875, Orphanet:4093580249135802491TG9:g.35802491T>G-
NM_003995.4(NPR2):c.1758del (p.Ala585_Cys586insTer)4882NPR2Pathogenicrs1057519334RCV000416331; NMONDO:MONDO:0011275,MedGen:C1864356,OMIM:602875, Orphanet:4093580254735802547GCGNC_000009.11:g.35802547delClinGen:CA16044041C1864356 602875 Acromesomelic dysplasia Maroteaux type;
NM_003995.4(NPR2):c.1780A>G (p.Ile594Val)4882NPR2Uncertain significance-1RCV001917128; NMONDO:MONDO:0011275,MedGen:C1864356,OMIM:602875, Orphanet:40; MONDO:MONDO:0014401,MedGen:C4014690,OMIM:615923, Orphanet:32919193580256935802569AG35802569-
NM_003995.4(NPR2):c.1794C>T (p.Tyr598=)4882NPR2Benignrs5812RCV000381719|RCV001515145|RCV001675888; 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:329191|MedGen:CN51720293580258335802583CTNC_000009.11:g.35802583C>TClinGen:CA5051813C0265278 Acromesomelic Dysplasia;
NM_003995.4(NPR2):c.1802G>T (p.Arg601Leu)4882NPR2Uncertain significancers180950551RCV001166428|RCV001859083; 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:4093580259135802591GT9:g.35802591G>T-
NM_003995.4(NPR2):c.1802G>A (p.Arg601His)4882NPR2Uncertain significancers180950551RCV001348302; NMONDO:MONDO:0011275,MedGen:C1864356,OMIM:602875, Orphanet:40; MONDO:MONDO:0014401,MedGen:C4014690,OMIM:615923, Orphanet:32919193580259135802591GA35802591-
NM_003995.4(NPR2):c.1815+2T>C4882NPR2Uncertain significancers1563988864RCV000778883; NMONDO:MONDO:0011275,MedGen:C1864356,OMIM:602875, Orphanet:4093580260635802606TCNC_000009.11:g.35802606T>C-
NM_003995.4(NPR2):c.1815+3G>A4882NPR2Likely benign-1RCV001495297; NMONDO:MONDO:0014401,MedGen:C4014690,OMIM:615923, Orphanet:329191; MONDO:MONDO:0011275,MedGen:C1864356,OMIM:602875, Orphanet:4093580260735802607GA35802607-
NM_003995.4(NPR2):c.1839C>G (p.Ile613Met)4882NPR2Uncertain significancers951956774RCV001343671; NMONDO:MONDO:0011275,MedGen:C1864356,OMIM:602875, Orphanet:40; MONDO:MONDO:0014401,MedGen:C4014690,OMIM:615923, Orphanet:32919193580275235802752CG35802752-
NM_003995.4(NPR2):c.1844T>G (p.Leu615Trp)4882NPR2Uncertain significancers1828223846RCV001319063; NMONDO:MONDO:0011275,MedGen:C1864356,OMIM:602875, Orphanet:40; MONDO:MONDO:0014401,MedGen:C4014690,OMIM:615923, Orphanet:32919193580275735802757TG35802757-
NM_003995.4(NPR2):c.1887+2T>A4882NPR2Pathogenicrs1828226013RCV001263189; NMONDO:MONDO:0011275,MedGen:C1864356,OMIM:602875, Orphanet:4093580280235802802TA9:g.35802802T>A-
NM_003995.4(NPR2):c.1887+11C>G4882NPR2Uncertain significancers761623564RCV001166429; NMONDO:MONDO:0011275,MedGen:C1864356,OMIM:602875, Orphanet:4093580281135802811CG9:g.35802811C>G-
NM_003995.4(NPR2):c.1922C>T (p.Ser641Leu)4882NPR2Uncertain significancers202053091RCV001249316|RCV001760291; NMONDO:MONDO:0011275,MedGen:C1864356,OMIM:602875, Orphanet:40|MedGen:CN51720293580554235805542CT9:g.35805542C>T-
NM_003995.4(NPR2):c.1946A>T (p.Asn649Ile)4882NPR2Uncertain significance-1RCV001922860; NMONDO:MONDO:0011275,MedGen:C1864356,OMIM:602875, Orphanet:40; MONDO:MONDO:0014401,MedGen:C4014690,OMIM:615923, Orphanet:32919193580556635805566AT35805566-
NM_003995.4(NPR2):c.1948T>G (p.Cys650Gly)4882NPR2Uncertain significance-1RCV001359760; NMONDO:MONDO:0011275,MedGen:C1864356,OMIM:602875, Orphanet:40; MONDO:MONDO:0014401,MedGen:C4014690,OMIM:615923, Orphanet:32919193580556835805568TG35805568-
NM_003995.4(NPR2):c.1956G>T (p.Val652=)4882NPR2Likely benign-1RCV002146097; NMONDO:MONDO:0011275,MedGen:C1864356,OMIM:602875, Orphanet:40; MONDO:MONDO:0014401,MedGen:C4014690,OMIM:615923, Orphanet:32919193580557635805576GT35805576-
NM_003995.4(NPR2):c.2047+11C>T4882NPR2Benign/Likely benignrs200583592RCV000292126|RCV002058802; 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:32919193580567835805678CTNC_000009.11:g.35805678C>TClinGen:CA5051877C0265278 Acromesomelic Dysplasia;
NM_003995.4(NPR2):c.2048-16G>A4882NPR2Likely benign-1RCV002201958; NMONDO:MONDO:0011275,MedGen:C1864356,OMIM:602875, Orphanet:40; MONDO:MONDO:0014401,MedGen:C4014690,OMIM:615923, Orphanet:32919193580581135805811GA35805811-
NM_003995.4(NPR2):c.2065C>T (p.Pro689Ser)4882NPR2Likely pathogenic-1RCV001730000; NMONDO:MONDO:0011275,MedGen:C1864356,OMIM:602875, Orphanet:4093580584435805844CT35805844-
NM_003995.4(NPR2):c.2105T>A (p.Met702Lys)4882NPR2Likely benignrs200129431RCV000938983|RCV002066177; NMedGen:CN517202|MONDO:MONDO:0011275,MedGen:C1864356,OMIM:602875, Orphanet:40; MONDO:MONDO:0014401,MedGen:C4014690,OMIM:615923, Orphanet:32919193580588435805884TA9:g.35805884T>A-
NM_003995.4(NPR2):c.2118C>T (p.Asp706=)4882NPR2Likely benign-1RCV001405984; NMONDO:MONDO:0011275,MedGen:C1864356,OMIM:602875, Orphanet:40; MONDO:MONDO:0014401,MedGen:C4014690,OMIM:615923, Orphanet:32919193580589735805897CT35805897-
NM_003995.4(NPR2):c.2143C>T (p.Gln715Ter)4882NPR2Pathogenicrs1828356952RCV001263532; NMONDO:MONDO:0011275,MedGen:C1864356,OMIM:602875, Orphanet:4093580592235805922CT9:g.35805922C>T-
NM_003995.4(NPR2):c.2150T>C (p.Ile717Thr)4882NPR2Uncertain significancers760946888RCV001303062; NMONDO:MONDO:0011275,MedGen:C1864356,OMIM:602875, Orphanet:40; MONDO:MONDO:0014401,MedGen:C4014690,OMIM:615923, Orphanet:32919193580592935805929TC35805929-
NM_003995.4(NPR2):c.2158C>T (p.Arg720Cys)4882NPR2Uncertain significance-1RCV001990034; NMONDO:MONDO:0011275,MedGen:C1864356,OMIM:602875, Orphanet:40; MONDO:MONDO:0014401,MedGen:C4014690,OMIM:615923, Orphanet:32919193580593735805937CT35805937-
NM_003995.4(NPR2):c.2221C>T (p.Arg741Ter)4882NPR2Pathogenic-1RCV001959140; NMONDO:MONDO:0011275,MedGen:C1864356,OMIM:602875, Orphanet:40; MONDO:MONDO:0014401,MedGen:C4014690,OMIM:615923, Orphanet:32919193580607935806079CT35806079-
NM_003995.4(NPR2):c.2245C>T (p.Arg749Trp)4882NPR2Pathogenic/Likely pathogenic-1RCV001808015|RCV001885286; 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:32919193580610335806103CT35806103-
NM_003995.4(NPR2):c.2252G>A (p.Ser751Asn)4882NPR2Uncertain significancers114207425RCV001166430; NMONDO:MONDO:0011275,MedGen:C1864356,OMIM:602875, Orphanet:4093580611035806110GA9:g.35806110G>A-
NM_003995.4(NPR2):c.2260C>T (p.Arg754Trp)4882NPR2Uncertain significancers371968545RCV000792814; NMONDO:MONDO:0011275,MedGen:C1864356,OMIM:602875, Orphanet:40; MONDO:MONDO:0014401,MedGen:C4014690,OMIM:615923, Orphanet:32919193580611835806118CT9:g.35806118C>T-
NM_003995.4(NPR2):c.2261G>A (p.Arg754Gln)4882NPR2Uncertain significancers763488261RCV000347047; NMONDO:MONDO:0011275,MedGen:C1864356,OMIM:602875, Orphanet:4093580611935806119GANC_000009.11:g.35806119G>AClinGen:CA5051927C0265278 Acromesomelic Dysplasia;
NM_003995.4(NPR2):c.2279A>G (p.Glu760Gly)4882NPR2Uncertain significance-1RCV002040148; NMONDO:MONDO:0011275,MedGen:C1864356,OMIM:602875, Orphanet:40; MONDO:MONDO:0014401,MedGen:C4014690,OMIM:615923, Orphanet:32919193580613735806137AG35806137-
NM_003995.4(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_003995.4(NPR2):c.2293A>G (p.Met765Val)4882NPR2Uncertain significance-1RCV002045571; NMONDO:MONDO:0011275,MedGen:C1864356,OMIM:602875, Orphanet:40; MONDO:MONDO:0014401,MedGen:C4014690,OMIM:615923, Orphanet:32919193580615135806151AG35806151-
NM_003995.4(NPR2):c.2302T>C (p.Cys768Arg)4882NPR2Pathogenicrs1057519333RCV000416364; NMONDO:MONDO:0011275,MedGen:C1864356,OMIM:602875, Orphanet:4093580616035806160TCNC_000009.11:g.35806160T>CClinGen:CA16044042C1864356 602875 Acromesomelic dysplasia Maroteaux type;
NM_003995.4(NPR2):c.2321C>T (p.Ala774Val)4882NPR2Uncertain significancers369154896RCV000513739|RCV001050909; NMedGen:CN517202|MONDO:MONDO:0011275,MedGen:C1864356,OMIM:602875, Orphanet:40; MONDO:MONDO:0014401,MedGen:C4014690,OMIM:615923, Orphanet:32919193580617935806179CT9:g.35806179C>TClinGen:CA5051936CN517202 not provided;
NM_003995.4(NPR2):c.2326C>T (p.Arg776Trp)4882NPR2Conflicting interpretations of pathogenicity-1RCV001733607|RCV002032734; 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:32919193580618435806184CT35806184-
NM_003995.4(NPR2):c.2327G>A (p.Arg776Gln)4882NPR2Conflicting interpretations of pathogenicityrs780293535RCV000328406|RCV001166431|RCV001300728; NMedGen:CN517202|MONDO: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:32919193580618535806185GA9:g.35806185G>AClinGen:CA5051937CN169374 not specified;
NM_003995.4(NPR2):c.2337T>C (p.Phe779=)4882NPR2Conflicting interpretations of pathogenicityrs115369552RCV000398001|RCV000920824; NMONDO:MONDO:0011275,MedGen:C1864356,OMIM:602875, Orphanet:40|MedGen:CN51720293580619535806195TCNC_000009.11:g.35806195T>CClinGen:CA5051938C0265278 Acromesomelic Dysplasia;
NM_003995.4(NPR2):c.2341C>T (p.Gln781Ter)4882NPR2Pathogenic-1RCV001951316; NMONDO:MONDO:0011275,MedGen:C1864356,OMIM:602875, Orphanet:40; MONDO:MONDO:0014401,MedGen:C4014690,OMIM:615923, Orphanet:32919193580619935806199CT35806199-
NM_003995.4(NPR2):c.2351G>A (p.Gly784Asp)4882NPR2Uncertain significancers771399009RCV001166432|RCV001338330; 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:4093580620935806209GA9:g.35806209G>A-
NM_003995.4(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_003995.4(NPR2):c.2360G>A (p.Arg787Gln)4882NPR2Uncertain significance-1RCV001372461; NMONDO:MONDO:0011275,MedGen:C1864356,OMIM:602875, Orphanet:40; MONDO:MONDO:0014401,MedGen:C4014690,OMIM:615923, Orphanet:32919193580621835806218GA35806218-
NM_003995.4(NPR2):c.2362C>T (p.Arg788Cys)4882NPR2Uncertain significancers761484215RCV001339247; NMONDO:MONDO:0011275,MedGen:C1864356,OMIM:602875, Orphanet:40; MONDO:MONDO:0014401,MedGen:C4014690,OMIM:615923, Orphanet:32919193580622035806220CT35806220-
NM_003995.4(NPR2):c.2363G>A (p.Arg788His)4882NPR2Uncertain significance-1RCV001373929; NMONDO:MONDO:0011275,MedGen:C1864356,OMIM:602875, Orphanet:40; MONDO:MONDO:0014401,MedGen:C4014690,OMIM:615923, Orphanet:32919193580622135806221GA35806221-
NM_003995.4(NPR2):c.2372+14A>T4882NPR2Likely benign-1RCV002091559; NMONDO:MONDO:0011275,MedGen:C1864356,OMIM:602875, Orphanet:40; MONDO:MONDO:0014401,MedGen:C4014690,OMIM:615923, Orphanet:32919193580624435806244AT35806244-
NM_003995.4(NPR2):c.2372+18G>A4882NPR2Likely benign-1RCV002085512; NMONDO:MONDO:0011275,MedGen:C1864356,OMIM:602875, Orphanet:40; MONDO:MONDO:0014401,MedGen:C4014690,OMIM:615923, Orphanet:32919193580624835806248GA35806248-
NM_003995.4(NPR2):c.2406G>C (p.Leu802=)4882NPR2Likely benign-1RCV002075318; NMONDO:MONDO:0011275,MedGen:C1864356,OMIM:602875, Orphanet:40; MONDO:MONDO:0014401,MedGen:C4014690,OMIM:615923, Orphanet:32919193580642235806422GC35806422-
NM_003995.4(NPR2):c.2407C>T (p.Leu803=)4882NPR2Likely benign-1RCV002153341; NMONDO:MONDO:0011275,MedGen:C1864356,OMIM:602875, Orphanet:40; MONDO:MONDO:0014401,MedGen:C4014690,OMIM:615923, Orphanet:32919193580642335806423CT35806423-
NM_003995.4(NPR2):c.2412C>T (p.Arg804=)4882NPR2Uncertain significance-1RCV001899427; NMONDO:MONDO:0011275,MedGen:C1864356,OMIM:602875, Orphanet:40; MONDO:MONDO:0014401,MedGen:C4014690,OMIM:615923, Orphanet:32919193580642835806428CT35806428-
NM_003995.4(NPR2):c.2429A>G (p.Asn810Ser)4882NPR2Uncertain significancers764876586RCV001349035; NMONDO:MONDO:0011275,MedGen:C1864356,OMIM:602875, Orphanet:40; MONDO:MONDO:0014401,MedGen:C4014690,OMIM:615923, Orphanet:32919193580644535806445AG35806445-
NM_003995.4(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.2455C>T (p.Arg819Cys)4882NPR2Uncertain significancers766256429RCV000190428|RCV001362476; NMONDO:MONDO:0014551,MedGen:C4225399,OMIM:616255|MONDO:MONDO:0011275,MedGen:C1864356,OMIM:602875, Orphanet:40; MONDO:MONDO:0014401,MedGen:C4014690,OMIM:615923, Orphanet:32919193580647135806471CT9:g.35806471C>TClinGen:CA204426,UniProtKB:P20594#VAR_074683,OMIM:108961.0009C4225399 616255 Short stature with nonspecific skeletal abnormalities;
NM_003995.4(NPR2):c.2460A>C (p.Thr820=)4882NPR2Conflicting interpretations of pathogenicityrs754928680RCV001166961|RCV001427871; 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:4093580647635806476AC9:g.35806476A>C-
NM_003995.4(NPR2):c.2463G>A (p.Gln821=)4882NPR2Uncertain significancers1828391242RCV001331148; NMONDO:MONDO:0011275,MedGen:C1864356,OMIM:602875, Orphanet:4093580647935806479GA35806479-
NM_003995.4(NPR2):c.2472G>A (p.Leu824=)4882NPR2Likely benign-1RCV002112177; NMONDO:MONDO:0011275,MedGen:C1864356,OMIM:602875, Orphanet:40; MONDO:MONDO:0014401,MedGen:C4014690,OMIM:615923, Orphanet:32919193580648835806488GA35806488-
NM_003995.4(NPR2):c.2519+3G>A4882NPR2Uncertain significancers749445629RCV001166962; NMONDO:MONDO:0011275,MedGen:C1864356,OMIM:602875, Orphanet:4093580653835806538GA9:g.35806538G>A-
NM_003995.4(NPR2):c.2519+9T>C4882NPR2Benign-1RCV002205932; NMONDO:MONDO:0011275,MedGen:C1864356,OMIM:602875, Orphanet:40; MONDO:MONDO:0014401,MedGen:C4014690,OMIM:615923, Orphanet:32919193580654435806544TC35806544-
NM_003995.4(NPR2):c.2519+15C>T4882NPR2Conflicting interpretations of pathogenicityrs370934186RCV001166963|RCV002068023; 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:4093580655035806550CT9:g.35806550C>T-
NM_003995.4(NPR2):c.2523A>G (p.Ser841=)4882NPR2Uncertain significancers758756963RCV001166964; NMONDO:MONDO:0011275,MedGen:C1864356,OMIM:602875, Orphanet:4093580702335807023AG9:g.35807023A>G-
NM_003995.4(NPR2):c.2527del (p.Ala843fs)4882NPR2Pathogenicrs1588068987RCV001008619|RCV001860592; NMedGen:CN517202|MONDO:MONDO:0014401,MedGen:C4014690,OMIM:615923, Orphanet:329191; MONDO:MONDO:0011275,MedGen:C1864356,OMIM:602875, Orphanet:4093580702635807026TGT9:g.35807026_35807026del-
NM_003995.4(NPR2):c.2560G>T (p.Ala854Ser)4882NPR2Uncertain significancers1245545691RCV001051659; NMONDO:MONDO:0011275,MedGen:C1864356,OMIM:602875, Orphanet:40; MONDO:MONDO:0014401,MedGen:C4014690,OMIM:615923, Orphanet:32919193580706035807060GT9:g.35807060G>T-
NM_003995.4(NPR2):c.2572G>A (p.Asp858Asn)4882NPR2Uncertain significance-1RCV001911240; NMONDO:MONDO:0011275,MedGen:C1864356,OMIM:602875, Orphanet:40; MONDO:MONDO:0014401,MedGen:C4014690,OMIM:615923, Orphanet:32919193580707235807072GA35807072-
NM_003995.4(NPR2):c.2629A>G (p.Ser877Gly)4882NPR2Uncertain significancers1012739989RCV001295789; NMONDO:MONDO:0014401,MedGen:C4014690,OMIM:615923, Orphanet:329191; MONDO:MONDO:0011275,MedGen:C1864356,OMIM:602875, Orphanet:4093580712935807129AG35807129-
NM_003995.4(NPR2):c.2634C>A (p.Thr878=)4882NPR2Likely benignrs1588069140RCV000943871|RCV001497628; NMedGen:CN517202|MONDO:MONDO:0014401,MedGen:C4014690,OMIM:615923, Orphanet:329191; MONDO:MONDO:0011275,MedGen:C1864356,OMIM:602875, Orphanet:4093580713435807134CA9:g.35807134C>A-
NM_003995.4(NPR2):c.2643+7G>A4882NPR2Likely benignrs1024082991RCV000964594|RCV002066383; NMedGen:CN517202|MONDO:MONDO:0011275,MedGen:C1864356,OMIM:602875, Orphanet:40; MONDO:MONDO:0014401,MedGen:C4014690,OMIM:615923, Orphanet:32919193580715035807150GA9:g.35807150G>A-
NM_003995.4(NPR2):c.2643+10A>G4882NPR2Benign/Likely benignrs200486126RCV000311986|RCV000950581; 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:32919193580715335807153AGNC_000009.11:g.35807153A>GClinGen:CA5052011C0265278 Acromesomelic Dysplasia;
NM_003995.4(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_003995.4(NPR2):c.2648T>G (p.Val883Gly)4882NPR2Uncertain significance-1RCV001808905; NMONDO:MONDO:0011275,MedGen:C1864356,OMIM:602875, Orphanet:4093580733135807331TG35807331-
NM_003995.4(NPR2):c.2681A>C (p.Asp894Ala)4882NPR2Uncertain significance-1RCV001892856; NMONDO:MONDO:0011275,MedGen:C1864356,OMIM:602875, Orphanet:40; MONDO:MONDO:0014401,MedGen:C4014690,OMIM:615923, Orphanet:32919193580736435807364AC35807364-
NM_003995.4(NPR2):c.2712+11_2712+19del4882NPR2Benignrs58759471RCV000352779|RCV001515146; NMONDO:MONDO:0019696,MedGen:C5235036, Orphanet:93437|MONDO:MONDO:0011275,MedGen:C1864356,OMIM:602875, Orphanet:40; MONDO:MONDO:0014401,MedGen:C4014690,OMIM:615923, Orphanet:32919193580740235807410AGCTGGGGCCANC_000009.11:g.35807406_35807414delClinGen:CA5052044C0265278 Acromesomelic Dysplasia;
NM_003995.4(NPR2):c.2712+16G>C4882NPR2Likely benign-1RCV002131182; NMONDO:MONDO:0011275,MedGen:C1864356,OMIM:602875, Orphanet:40; MONDO:MONDO:0014401,MedGen:C4014690,OMIM:615923, Orphanet:32919193580741135807411GC35807411-
NM_003995.4(NPR2):c.2713-11C>T4882NPR2Likely benign-1RCV002109301; NMONDO:MONDO:0011275,MedGen:C1864356,OMIM:602875, Orphanet:40; MONDO:MONDO:0014401,MedGen:C4014690,OMIM:615923, Orphanet:32919193580849535808495CT35808495-
NM_003995.4(NPR2):c.2713-2A>T4882NPR2Likely 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_003995.4(NPR2):c.2713G>T (p.Val905Leu)4882NPR2Uncertain significancers1357724443RCV000784968; NMONDO:MONDO:0011275,MedGen:C1864356,OMIM:602875, Orphanet:4093580850635808506GT9:g.35808506G>T-
NM_003995.4(NPR2):c.2720C>T (p.Thr907Met)4882NPR2Pathogenic/Likely pathogenicrs1311857509RCV001262118|RCV001597245|RCV001385134; NMONDO:MONDO:0011275,MedGen:C1864356,OMIM:602875, Orphanet:40|MedGen:CN517202|MONDO:MONDO:0011275,MedGen:C1864356,OMIM:602875, Orphanet:40; MONDO:MONDO:0014401,MedGen:C4014690,OMIM:615923, Orphanet:32919193580851335808513CT9:g.35808513C>T-
NM_003995.4(NPR2):c.2721G>A (p.Thr907=)4882NPR2Conflicting interpretations of pathogenicityrs758549770RCV001166965|RCV001464061; 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:32919193580851435808514GA9:g.35808514G>A-
NM_003995.4(NPR2):c.2723T>C (p.Ile908Thr)4882NPR2Uncertain significancers369313283RCV000175437|RCV001319753; NMedGen:CN517202|MONDO:MONDO:0011275,MedGen:C1864356,OMIM:602875, Orphanet:40; MONDO:MONDO:0014401,MedGen:C4014690,OMIM:615923, Orphanet:32919193580851635808516TC9:g.35808516T>CClinGen:CA241195CN169374 not specified;
NM_003995.4(NPR2):c.2738T>C (p.Met913Thr)4882NPR2Uncertain significance-1RCV001885724; NMONDO:MONDO:0011275,MedGen:C1864356,OMIM:602875, Orphanet:40; MONDO:MONDO:0014401,MedGen:C4014690,OMIM:615923, Orphanet:32919193580853135808531TC35808531-
NM_003995.4(NPR2):c.2739G>A (p.Met913Ile)4882NPR2Uncertain significance-1RCV002038559; NMONDO:MONDO:0011275,MedGen:C1864356,OMIM:602875, Orphanet:40; MONDO:MONDO:0014401,MedGen:C4014690,OMIM:615923, Orphanet:32919193580853235808532GA35808532-
NM_003995.4(NPR2):c.2754C>A (p.Leu918=)4882NPR2Likely benignrs372891937RCV000911347|RCV001396673; NMedGen:CN517202|MONDO:MONDO:0011275,MedGen:C1864356,OMIM:602875, Orphanet:40; MONDO:MONDO:0014401,MedGen:C4014690,OMIM:615923, Orphanet:32919193580854735808547CA9:g.35808547C>A-
NM_003995.4(NPR2):c.2761C>T (p.Arg921Ter)4882NPR2Pathogenicrs1554674642RCV000521525|RCV001851496; NMedGen:CN517202|MONDO:MONDO:0011275,MedGen:C1864356,OMIM:602875, Orphanet:40; MONDO:MONDO:0014401,MedGen:C4014690,OMIM:615923, Orphanet:32919193580855435808554CT9:g.35808554C>TClinGen:CA373384949CN517202 not provided;
NM_003995.4(NPR2):c.2762G>A (p.Arg921Gln)4882NPR2Uncertain significance-1RCV001992975; NMONDO:MONDO:0011275,MedGen:C1864356,OMIM:602875, Orphanet:40; MONDO:MONDO:0014401,MedGen:C4014690,OMIM:615923, Orphanet:32919193580855535808555GA35808555-
NM_003995.4(NPR2):c.2777A>G (p.His926Arg)4882NPR2Uncertain significance-1RCV002004410; NMONDO:MONDO:0011275,MedGen:C1864356,OMIM:602875, Orphanet:40; MONDO:MONDO:0014401,MedGen:C4014690,OMIM:615923, Orphanet:32919193580857035808570AG35808570-
NM_003995.4(NPR2):c.2807C>T (p.Ala936Val)4882NPR2Uncertain significance-1RCV001893197; NMONDO:MONDO:0011275,MedGen:C1864356,OMIM:602875, Orphanet:40; MONDO:MONDO:0014401,MedGen:C4014690,OMIM:615923, Orphanet:32919193580860035808600CT35808600-
NM_003995.4(NPR2):c.2833C>T (p.Arg945Cys)4882NPR2Uncertain significancers781398693RCV000390082|RCV001850938; 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:32919193580862635808626CTNC_000009.11:g.35808626C>TClinGen:CA5052134C0265278 Acromesomelic Dysplasia;
NM_003995.4(NPR2):c.2840G>C (p.Arg947Pro)4882NPR2Uncertain significancers145008570RCV001064788; 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 significancers145008570RCV001168676|RCV001859092; 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:32919193580863335808633GA9:g.35808633G>A-
NM_003995.4(NPR2):c.2845C>T (p.Arg949Ter)4882NPR2Pathogenic-1RCV001944334; NMONDO:MONDO:0011275,MedGen:C1864356,OMIM:602875, Orphanet:40; MONDO:MONDO:0014401,MedGen:C4014690,OMIM:615923, Orphanet:32919193580863835808638CT35808638-
NM_003995.4(NPR2):c.2869C>T (p.Arg957Cys)4882NPR2Likely pathogenic-1RCV002026180; NMONDO:MONDO:0011275,MedGen:C1864356,OMIM:602875, Orphanet:40; MONDO:MONDO:0014401,MedGen:C4014690,OMIM:615923, Orphanet:32919193580866235808662CT35808662-
NM_003995.4(NPR2):c.2870G>A (p.Arg957His)4882NPR2Likely pathogenicrs1828565145RCV001264759; NMONDO:MONDO:0011275,MedGen:C1864356,OMIM:602875, Orphanet:4093580866335808663GA9:g.35808663G>A-
NM_003995.4(NPR2):c.2885C>G (p.Thr962Ser)4882NPR2Uncertain significance-1RCV002039988; NMONDO:MONDO:0011275,MedGen:C1864356,OMIM:602875, Orphanet:40; MONDO:MONDO:0014401,MedGen:C4014690,OMIM:615923, Orphanet:32919193580867835808678CG35808678-
NM_003995.4(NPR2):c.2895C>A (p.Val965=)4882NPR2Likely benignrs1011740301RCV000952173; NMONDO:MONDO:0011275,MedGen:C1864356,OMIM:602875, Orphanet:40; MONDO:MONDO:0014401,MedGen:C4014690,OMIM:615923, Orphanet:32919193580875935808759CA9:g.35808759C>A-
NM_003995.4(NPR2):c.2944G>A (p.Asp982Asn)4882NPR2Pathogenicrs1057519336RCV000416371; NMONDO:MONDO:0011275,MedGen:C1864356,OMIM:602875, Orphanet:4093580880835808808GANC_000009.11:g.35808808G>AClinGen:CA16044043C1864356 602875 Acromesomelic dysplasia Maroteaux type;
NM_003995.4(NPR2):c.2966G>A (p.Arg989Gln)4882NPR2Pathogenicrs771373457RCV000985135|RCV001805952; NMONDO:MONDO:0014924,MedGen:C4310709,OMIM:617116|MONDO:MONDO:0011275,MedGen:C1864356,OMIM:602875, Orphanet:4093580883035808830GA9:g.35808830G>A-
NM_003995.4(NPR2):c.2987-12C>T4882NPR2Likely benign-1RCV002184483; NMONDO:MONDO:0011275,MedGen:C1864356,OMIM:602875, Orphanet:40; MONDO:MONDO:0014401,MedGen:C4014690,OMIM:615923, Orphanet:32919193580914135809141CT35809141-
NM_003995.4(NPR2):c.2987-11A>G4882NPR2Likely benign-1RCV002118396; NMONDO:MONDO:0011275,MedGen:C1864356,OMIM:602875, Orphanet:40; MONDO:MONDO:0014401,MedGen:C4014690,OMIM:615923, Orphanet:32919193580914235809142AG35809142-
NM_003995.4(NPR2):c.2987C>T (p.Ala996Val)4882NPR2Uncertain significance-1RCV001901311; NMONDO:MONDO:0011275,MedGen:C1864356,OMIM:602875, Orphanet:40; MONDO:MONDO:0014401,MedGen:C4014690,OMIM:615923, Orphanet:32919193580915335809153CT35809153-
NM_003995.4(NPR2):c.2988G>A (p.Ala996=)4882NPR2Likely benign-1RCV001444391; NMONDO:MONDO:0011275,MedGen:C1864356,OMIM:602875, Orphanet:40; MONDO:MONDO:0014401,MedGen:C4014690,OMIM:615923, Orphanet:32919193580915435809154GA35809154-
NM_003995.4(NPR2):c.3029A>G (p.Asp1010Gly)4882NPR2Uncertain significancers1828609114RCV001262119; NMONDO:MONDO:0011275,MedGen:C1864356,OMIM:602875, Orphanet:4093580919535809195AG9:g.35809195A>G-
NM_003995.4(NPR2):c.3034C>T (p.Leu1012=)4882NPR2Likely 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 significancers774392843RCV001168677; NMONDO:MONDO:0011275,MedGen:C1864356,OMIM:602875, Orphanet:4093580922935809229GC9:g.35809229G>C-
NM_003995.4(NPR2):c.3078+16G>T4882NPR2Conflicting interpretations of pathogenicityrs760800240RCV001334197|RCV002070180; 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:32919193580926035809260GT35809260-
NM_003995.4(NPR2):c.3078+17G>A4882NPR2Likely benign-1RCV002075663; NMONDO:MONDO:0011275,MedGen:C1864356,OMIM:602875, Orphanet:40; MONDO:MONDO:0014401,MedGen:C4014690,OMIM:615923, Orphanet:32919193580926135809261GA35809261-
NM_003995.4(NPR2):c.3079-10C>A4882NPR2Likely benign-1RCV002194259; NMONDO:MONDO:0011275,MedGen:C1864356,OMIM:602875, Orphanet:40; MONDO:MONDO:0014401,MedGen:C4014690,OMIM:615923, Orphanet:32919193580936735809367CA35809367-
NM_003995.4(NPR2):c.3087A>C (p.Gly1029=)4882NPR2Conflicting interpretations of pathogenicityrs138254005RCV000303783|RCV000298974|RCV001410358; NMedGen:CN517202|MONDO: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:32919193580938535809385AC9:g.35809385A>CClinGen:CA5052218C0265278 Acromesomelic Dysplasia;
NM_003995.4(NPR2):c.3102C>T (p.Tyr1034=)4882NPR2Likely benign-1RCV002075945; NMONDO:MONDO:0011275,MedGen:C1864356,OMIM:602875, Orphanet:40; MONDO:MONDO:0014401,MedGen:C4014690,OMIM:615923, Orphanet:32919193580940035809400CT35809400-
NM_003995.4(NPR2):c.3105G>T (p.Trp1035Cys)4882NPR2Uncertain significancers1828636535RCV001348515; NMONDO:MONDO:0011275,MedGen:C1864356,OMIM:602875, Orphanet:40; MONDO:MONDO:0014401,MedGen:C4014690,OMIM:615923, Orphanet:32919193580940335809403GT35809403-
NM_003995.4(NPR2):c.3113_3115del (p.Gly1038del)4882NPR2Uncertain significancers1828637001RCV001263098; NMONDO:MONDO:0011275,MedGen:C1864356,OMIM:602875, Orphanet:4093580940935809411TAGGT9:g.35809409_35809411del-
NM_003995.4(NPR2):c.3119G>A (p.Arg1040Gln)4882NPR2Uncertain significancers146546770RCV001337490; NMONDO:MONDO:0011275,MedGen:C1864356,OMIM:602875, Orphanet:40; MONDO:MONDO:0014401,MedGen:C4014690,OMIM:615923, Orphanet:32919193580941735809417GA35809417-
NM_003995.4(NPR2):c.*2C>T4882NPR2Uncertain significancers778618798RCV001168678; NMONDO:MONDO:0011275,MedGen:C1864356,OMIM:602875, Orphanet:4093580944435809444CT9:g.35809444C>T-
NM_003995.4(NPR2):c.*270A>T4882NPR2Uncertain significancers61758534RCV001168679; NMONDO:MONDO:0011275,MedGen:C1864356,OMIM:602875, Orphanet:4093580971235809712AT9:g.35809712A>T-
MSeqDR Portal