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Cleft Lip (D002971)
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Cleft Palate (D002972)
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Craniofacial Abnormalities (D019465)
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Joint Dislocations (D004204)
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Osteochondrodysplasias (D010009)
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Tooth Abnormalities (D014071)
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Larsen syndrome, dominant type (C537873)

       Child Nodes:



 Sister Nodes: 
..expandAckerman syndrome (C538170)
..expandAnodontia (D000848) Child29
..expandAREDYLD Syndrome (C537427)
..expandBlepharo-cheilo-dontic syndrome (C536188)
..expandBook Syndrome (C562993)
..expandCarabelli Anomaly of Maxillary Molar Teeth (C566175)
..expandCleidocranial Dysplasia, Forme Fruste, Dental Anomalies Only (C563974)
..expandCODAS syndrome (C536434)
..expandCRANIOSYNOSTOSIS AND DENTAL ANOMALIES (OMIM:614188)
..expandDeafness, Congenital, and Onychodystrophy, Autosomal Dominant (C567274)
..expandDeafness, Congenital, with Inner Ear Agenesis, Microtia, and Microdontia (C565195)
..expandDens in Dente (D003719) Child1
..expandDental Enamel Hypoplasia (D003744) Child29
..expandDentin Dysplasia (D003805) Child3
..expandDentinogenesis Imperfecta (D003811) Child7
..expandDermoodontodysplasia (C565103)
..expandDiastema (D003970) Child1
..expandEuhidrotic ectodermal dysplasia (C535763)
..expandFacial Dysmorphism, Selective Tooth Agenesis, and Choroid Calcification (C567039)
..expandFaciocardiomelic Dysplasia, Lethal (C565578)
..expandFused Teeth (D005671)
..expandGrubben de Cock Borghgraef syndrome (C537621)
..expandHypoglossia-Hypodactylia (C566308)
..expandIridogoniodysgenesis, dominant type (C535536)
..expandKallmann Syndrome 2 with Selective Tooth Agenesis (C566948)
..expandKBG syndrome (C537015)
..expandLacrimoauriculodentodigital syndrome (C538132)
..expandLarsen syndrome, dominant type (C537873)
..expandNance-Horan syndrome (C538336)
..expandOculodentodigital Dysplasia (C563160)
..expandOculodentodigital Dysplasia, Autosomal Recessive (C567605)
..expandOculotrichodysplasia (C564934)
..expandOdontodysplasia (D018126) Child3
..expandOdontomicronychial dysplasia (C537741)
..expandOdontotrichoungual-Digital-Palmar Syndrome (C566598)
..expandOroacral Syndrome, Verloes-Koulischer Type (C566374)
..expandOtodental Dysplasia (C563482)
..expandPolydactyly, Postaxial, with Dental and Vertebral Anomalies (C564880)
..expandRodrigues blindness (C535865)
..expandSpondyloepimetaphyseal Dysplasia With Abnormal Dentition (C566644)
..expandTaurodontism (C536946)
..expandTaurodontism, microdontia, and dens invaginatus (C536947)
..expandTeeth noneruption of with maxillary hypoplasia and genu valgum (C536952)
..expandTeeth, Odd Shapes Of (C566076)
..expandTemtamy preaxial brachydactyly syndrome (C536958)
..expandTOOTH AGENESIS, SELECTIVE, 7 (OMIM:616724)
..expandTOOTH AGENESIS, SELECTIVE, 8 (OMIM:617073)
..expandTOOTH AGENESIS, SELECTIVE, 9 (OMIM:617275)
..expandTooth, Supernumerary (D014096) Child3
..expandTricho-dento-osseous syndrome 1 (C536550)
..expandTRICHODENTOOSSEOUS SYNDROME (OMIM:190320)
..expandWeyers acrofacial dysostosis (C536695)
..expandZazam Sheriff Phillips syndrome (C536723)
   

Human Disease MESH is developed by UMLS.
Further data from MedGen, OMIM,ClinVar, CTD
Term ID:6791
Name:Larsen syndrome, dominant type
Definition:
Alternative IDs:OMIM:150250
ParentIDs:MESH:D002971|MESH:D002972|MESH:D004204|MESH:D010009|MESH:D014071|MESH:D019465
TreeNumbers:C05.116.099.708/C537873 |C05.500.460.185/C537873 |C05.550.518/C537873 |C05.660.207.540.460.185/C537873 |C05.660.207/C537873 |C07.320.440.185/C537873 |C07.465.409.225/C537873 |C07.465.525.164/C537873 |C07.465.525.185/C537873 |C07.650.500.460.185/C537873 |C07.650.52
Synonyms:LARSEN SYNDROME |Larsen Syndrome, Autosomal Dominant |LRS
Slim Mappings:Congenital abnormality|Genetic disease (inborn)|Mouth disease|Musculoskeletal disease|Wounds and injuries
Reference: MedGen: C537873
MeSH: C537873
OMIM: 150250;
MSeqDR LSDB:  
Genes: FLNB;
Phenotypes
1 HP:0000006Autosomal dominant inheritance
2 HP:0004232Accessory carpal bones
3 HP:0004942Aortic aneurysm
4 HP:0001631Atrial septal defect
5 HP:0004568Beaking of vertebral bodies
6 HP:0008127Bipartite calcaneus
7 HP:0002780Bronchomalacia
8 HP:0002947Cervical kyphosis
9 HP:0000175Cleft palate
10 HP:0000204Cleft upper lip
11 HP:0000405Conductive hearing impairment
12 HP:0007957Corneal opacity
13 HP:0000028Cryptorchidism
14 HP:0005280Depressed nasal bridge
15 HP:0003994Dislocated wrist
16 HP:0003042Elbow dislocation
17 HP:0012368Flat face
18 HP:0002007Frontal bossing
19 HP:0002827Hip dislocation
20 HP:0000316Hypertelorism
21 HP:0000668Hypodontia
22 HP:0008434Hypoplastic cervical vertebrae
23 HP:0001249Intellectual disability
24 HP:0001511Intrauterine growth retardation
25 HP:0001388Joint laxity
26 HP:0004976Knee dislocation
27 HP:0000272Malar flattening
28 HP:0006067Multiple carpal ossification centers
29 HP:0000768Pectus carinatum
30 HP:0000767Pectus excavatum
31 HP:0011220Prominent forehead
32 HP:0002650Scoliosis
33 HP:0000586Shallow orbits
34 HP:0010049Short metacarpal
35 HP:0010743Short metatarsal
36 HP:0001799Short nail
37 HP:0004322Short stature
NAMDC:  Short stature (patient¡¯s height is below the 3rd percentile)
38 HP:0001222Spatulate thumbs
39 HP:0003298Spina bifida occulta
40 HP:0002176Spinal cord compression
41 HP:0003304Spondylolysis
42 HP:0001772Talipes equinovalgus
43 HP:0001762Talipes equinovarus
44 HP:0002777Tracheal stenosis
45 HP:0002779Tracheomalacia
46 HP:0001629Ventricular septal defect
Disease Causing ClinVar Variants
Variation_NameGeneIDGeneSymbolClinicalSignificancedbSNPRCVaccessionTestedInGTRPhenotypeIDsChromosomeStartStopHGVS_cHGVS_pHGVS_gOtherIDsDisease_ClinVar
NM_004273.5(CHST3):c.-294C>G9469CHST3Benignrs4148907RCV000284764|RCV000307004|RCV000342077|RCV000399138; NMONDO:MONDO:0007738,MedGen:C1837657,OMIM:143095, Orphanet:263463|MONDO:MONDO:0008471,MedGen:C2745959,OMIM:183900, Orphanet:94068|MONDO:MONDO:0007875,MedGen:C0175778,OMIM:150250, Orphanet:503|Human Phenotype Ontology:HP:0002652,Human Phenotype Ontology:HP:0107372426673724266CG10:g.73724266C>GClinGen:CA10635763C0175778 Larsen syndrome;
NM_004273.5(CHST3):c.-274G>T9469CHST3Likely benignrs146305825RCV000310437|RCV000345401|RCV000367415|RCV000393516; NHuman Phenotype Ontology:HP:0002652,Human Phenotype Ontology:HP:0005685,MedGen:C0410528|MONDO:MONDO:0007875,MedGen:C0175778,OMIM:150250, Orphanet:503|MONDO:MONDO:0007738,MedGen:C1837657,OMIM:143095, Orphanet:263463|MONDO:MONDO:0008471,MedGen:C2745959,OMIM107372428673724286GT10:g.73724286G>TClinGen:CA10635764C0175778 Larsen syndrome;
NM_004273.5(CHST3):c.-270del9469CHST3Likely benignrs538907004RCV000275551|RCV000314315|RCV000371319|RCV000260109; NMONDO:MONDO:0008471,MedGen:C2745959,OMIM:183900, Orphanet:94068|Human Phenotype Ontology:HP:0002652,Human Phenotype Ontology:HP:0005685,MedGen:C0410528|MONDO:MONDO:0007875,MedGen:C0175778,OMIM:150250, Orphanet:503|MONDO:MONDO:0007738,MedGen:C1837657,OMIM:107372428873724288GCG10:g.73724288_73724288delClinGen:CA10628881C0175778 Larsen syndrome;
NM_004273.5(CHST3):c.-265C>G9469CHST3Uncertain significancers371903365RCV000263786|RCV000317897|RCV000321314|RCV000374804; NMONDO:MONDO:0007875,MedGen:C0175778,OMIM:150250, Orphanet:503|Human Phenotype Ontology:HP:0002652,Human Phenotype Ontology:HP:0005685,MedGen:C0410528|MONDO:MONDO:0008471,MedGen:C2745959,OMIM:183900, Orphanet:94068|MONDO:MONDO:0007738,MedGen:C1837657,OMIM:107372429573724295CG10:g.73724295C>GClinGen:CA10632064C0175778 Larsen syndrome;
NM_004273.5(CHST3):c.-131G>A9469CHST3Uncertain significancers886047158RCV000285109|RCV000342529|RCV000377292|RCV000380771; NHuman Phenotype Ontology:HP:0002652,Human Phenotype Ontology:HP:0005685,MedGen:C0410528|MONDO:MONDO:0007875,MedGen:C0175778,OMIM:150250, Orphanet:503|MONDO:MONDO:0008471,MedGen:C2745959,OMIM:183900, Orphanet:94068|MONDO:MONDO:0007738,MedGen:C1837657,OMIM:107372442973724429GA10:g.73724429G>AClinGen:CA10636151C0175778 Larsen syndrome;
NM_004273.5(CHST3):c.-108+6T>G9469CHST3Uncertain significancers886047159RCV000288758|RCV000311804|RCV000346084|RCV000402046; NMONDO:MONDO:0008471,MedGen:C2745959,OMIM:183900, Orphanet:94068|MONDO:MONDO:0007875,MedGen:C0175778,OMIM:150250, Orphanet:503|MONDO:MONDO:0007738,MedGen:C1837657,OMIM:143095, Orphanet:263463|Human Phenotype Ontology:HP:0002652,Human Phenotype Ontology:HP:0107372445873724458TG10:g.73724458T>GClinGen:CA10632065C0175778 Larsen syndrome;
NM_004273.5(CHST3):c.7A>C (p.Lys3Gln)9469CHST3Uncertain significancers199515173RCV000264662|RCV000299800|RCV000357082|RCV000261024; NMONDO:MONDO:0007738,MedGen:C1837657,OMIM:143095, Orphanet:263463|Human Phenotype Ontology:HP:0002652,Human Phenotype Ontology:HP:0005685,MedGen:C0410528|MONDO:MONDO:0007875,MedGen:C0175778,OMIM:150250, Orphanet:503|MONDO:MONDO:0008471,MedGen:C2745959,OMIM107376560773765607AC10:g.73765607A>CClinGen:CA10636152C0175778 Larsen syndrome;
NM_004273.5(CHST3):c.276C>A (p.Ser92Arg)9469CHST3Uncertain significancers777858428RCV000291531|RCV000330058|RCV000383546|RCV000386934; NMONDO:MONDO:0007875,MedGen:C0175778,OMIM:150250, Orphanet:503|MONDO:MONDO:0007738,MedGen:C1837657,OMIM:143095, Orphanet:263463|MONDO:MONDO:0008471,MedGen:C2745959,OMIM:183900, Orphanet:94068|Human Phenotype Ontology:HP:0002652,Human Phenotype Ontology:HP:0107376706573767065CA10:g.73767065C>AClinGen:CA5548051C0175778 Larsen syndrome;
NM_004273.5(CHST3):c.306C>T (p.Gly102=)9469CHST3Uncertain significancers776007496RCV000279348|RCV000294538|RCV000351750|RCV000398453; NHuman Phenotype Ontology:HP:0002652,Human Phenotype Ontology:HP:0005685,MedGen:C0410528|MONDO:MONDO:0008471,MedGen:C2745959,OMIM:183900, Orphanet:94068|MONDO:MONDO:0007875,MedGen:C0175778,OMIM:150250, Orphanet:503|MONDO:MONDO:0007738,MedGen:C1837657,OMIM:107376709573767095CT10:g.73767095C>TClinGen:CA5548059C0175778 Larsen syndrome;
NM_004273.5(CHST3):c.348G>T (p.Glu116Asp)9469CHST3Conflicting interpretations of pathogenicityrs144885813RCV000301857|RCV000336768|RCV000358981|RCV000390168; NMONDO:MONDO:0007738,MedGen:C1837657,OMIM:143095, Orphanet:263463|MONDO:MONDO:0008471,MedGen:C2745959,OMIM:183900, Orphanet:94068|MONDO:MONDO:0007875,MedGen:C0175778,OMIM:150250, Orphanet:503|Human Phenotype Ontology:HP:0002652,Human Phenotype Ontology:HP:0107376713773767137GT10:g.73767137G>TClinGen:CA5548068C0175778 Larsen syndrome;
NM_004273.5(CHST3):c.417C>T (p.Ala139=)9469CHST3Conflicting interpretations of pathogenicityrs144287889RCV000177194|RCV000274026|RCV000327879|RCV000366162|RCV000331444; NMedGen:CN169374|MONDO:MONDO:0007738,MedGen:C1837657,OMIM:143095, Orphanet:263463|MONDO:MONDO:0007875,MedGen:C0175778,OMIM:150250, Orphanet:503|MONDO:MONDO:0008471,MedGen:C2745959,OMIM:183900, Orphanet:94068|Human Phenotype Ontology:HP:0002652,Human Phenoty107376720673767206CT10:g.73767206C>TClinGen:CA202347C0175778 Larsen syndrome;
NM_004273.5(CHST3):c.543C>T (p.Ala181=)9469CHST3Uncertain significancers778478785RCV000296621|RCV000316546|RCV000373459|RCV000388673; NMONDO:MONDO:0007875,MedGen:C0175778,OMIM:150250, Orphanet:503|MONDO:MONDO:0008471,MedGen:C2745959,OMIM:183900, Orphanet:94068|MONDO:MONDO:0007738,MedGen:C1837657,OMIM:143095, Orphanet:263463|Human Phenotype Ontology:HP:0002652,Human Phenotype Ontology:HP:0107376733273767332CT10:g.73767332C>TClinGen:CA5548121C0175778 Larsen syndrome;
NM_004273.5(CHST3):c.561G>C (p.Val187=)9469CHST3Conflicting interpretations of pathogenicityrs147804585RCV000264582|RCV000281507|RCV000285022|RCV000338929|RCV000397454; NMedGen:CN169374|Human Phenotype Ontology:HP:0002652,Human Phenotype Ontology:HP:0005685,MedGen:C0410528|MONDO:MONDO:0007875,MedGen:C0175778,OMIM:150250, Orphanet:503|MONDO:MONDO:0007738,MedGen:C1837657,OMIM:143095, Orphanet:263463|MONDO:MONDO:0008471,MedG107376735073767350GC10:g.73767350G>CClinGen:CA5548127C0175778 Larsen syndrome;
NM_004273.5(CHST3):c.570C>T (p.Asp190=)9469CHST3Conflicting interpretations of pathogenicityrs367857089RCV000307475|RCV000342449|RCV000364556|RCV000400260; NMONDO:MONDO:0008471,MedGen:C2745959,OMIM:183900, Orphanet:94068|MONDO:MONDO:0007875,MedGen:C0175778,OMIM:150250, Orphanet:503|MONDO:MONDO:0007738,MedGen:C1837657,OMIM:143095, Orphanet:263463|Human Phenotype Ontology:HP:0002652,Human Phenotype Ontology:HP:0107376735973767359CT10:g.73767359C>TClinGen:CA5548128C0175778 Larsen syndrome;
NM_004273.5(CHST3):c.828C>T (p.Arg276=)9469CHST3Conflicting interpretations of pathogenicityrs140547825RCV000261306|RCV000301330|RCV000356106|RCV000393600; NMONDO:MONDO:0007875,MedGen:C0175778,OMIM:150250, Orphanet:503|MONDO:MONDO:0007738,MedGen:C1837657,OMIM:143095, Orphanet:263463|Human Phenotype Ontology:HP:0002652,Human Phenotype Ontology:HP:0005685,MedGen:C0410528|MONDO:MONDO:0008471,MedGen:C2745959,OMIM107376761773767617CT10:g.73767617C>TClinGen:CA5548180C0175778 Larsen syndrome;
NM_004273.5(CHST3):c.886G>C (p.Val296Leu)9469CHST3Uncertain significancers762224143RCV000276549|RCV000316427|RCV000331566|RCV000371092; NMONDO:MONDO:0008471,MedGen:C2745959,OMIM:183900, Orphanet:94068|MONDO:MONDO:0007875,MedGen:C0175778,OMIM:150250, Orphanet:503|Human Phenotype Ontology:HP:0002652,Human Phenotype Ontology:HP:0005685,MedGen:C0410528|MONDO:MONDO:0007738,MedGen:C1837657,OMIM:107376767573767675GC10:g.73767675G>CClinGen:CA5548188C0175778 Larsen syndrome;
NM_004273.5(CHST3):c.1003G>A (p.Glu335Lys)9469CHST3Conflicting interpretations of pathogenicityrs150466838RCV000272819|RCV000327919|RCV000382557|RCV000385924|RCV001564255; NHuman Phenotype Ontology:HP:0002652,Human Phenotype Ontology:HP:0005685,MedGen:C0410528|MONDO:MONDO:0007738,MedGen:C1837657,OMIM:143095, Orphanet:263463|MONDO:MONDO:0007875,MedGen:C0175778,OMIM:150250, Orphanet:503|MONDO:MONDO:0008471,MedGen:C2745959,OMIM107376779273767792GANC_000010.10:g.73767792G>AClinGen:CA5548196C0175778 Larsen syndrome;
NM_004273.5(CHST3):c.1070G>A (p.Arg357Gln)9469CHST3Benignrs3740129RCV000284253|RCV000287863|RCV000342801|RCV000378701|RCV000408312|RCV001651314; NMONDO:MONDO:0007738,MedGen:C1837657,OMIM:143095, Orphanet:263463|MONDO:MONDO:0008471,MedGen:C2745959,OMIM:183900, Orphanet:94068|MONDO:MONDO:0007875,MedGen:C0175778,OMIM:150250, Orphanet:503|Human Phenotype Ontology:HP:0002652,Human Phenotype Ontology:HP:0107376785973767859GA10:g.73767859G>AClinGen:CA5548203,UniProtKB:Q7LGC8#VAR_021415C0175778 Larsen syndrome;
NM_004273.5(CHST3):c.1197C>T (p.Asp399=)9469CHST3Conflicting interpretations of pathogenicityrs184636110RCV000299777|RCV000335960|RCV000339457|RCV000401498|RCV001579740; NMONDO:MONDO:0007875,MedGen:C0175778,OMIM:150250, Orphanet:503|MONDO:MONDO:0007738,MedGen:C1837657,OMIM:143095, Orphanet:263463|MONDO:MONDO:0008471,MedGen:C2745959,OMIM:183900, Orphanet:94068|Human Phenotype Ontology:HP:0002652,Human Phenotype Ontology:HP:0107376798673767986CTNC_000010.10:g.73767986C>TClinGen:CA5548218C0175778 Larsen syndrome;
NM_004273.5(CHST3):c.1254GAA[1] (p.Lys419del)9469CHST3Pathogenicrs1589510055RCV000856732; NMONDO:MONDO:0007875,MedGen:C0175778,OMIM:150250, Orphanet:503107376804273768044CAGAC10:g.73768042_73768044del-
NM_004273.5(CHST3):c.1347C>T (p.Arg449=)9469CHST3Conflicting interpretations of pathogenicityrs200249458RCV000271319|RCV000311323|RCV000326389|RCV000365944|RCV000398456; NHuman Phenotype Ontology:HP:0002652,Human Phenotype Ontology:HP:0005685,MedGen:C0410528|MONDO:MONDO:0007738,MedGen:C1837657,OMIM:143095, Orphanet:263463|MONDO:MONDO:0007875,MedGen:C0175778,OMIM:150250, Orphanet:503|MONDO:MONDO:0008471,MedGen:C2745959,OMIM107376813673768136CT10:g.73768136C>TClinGen:CA5548238C0175778 Larsen syndrome;
NM_004273.5(CHST3):c.1428C>T (p.Phe476=)9469CHST3Benign/Likely benignrs75845750RCV000267045|RCV000322241|RCV000376838|RCV000380307|RCV001660583; NMONDO:MONDO:0008471,MedGen:C2745959,OMIM:183900, Orphanet:94068|Human Phenotype Ontology:HP:0002652,Human Phenotype Ontology:HP:0005685,MedGen:C0410528|MONDO:MONDO:0007875,MedGen:C0175778,OMIM:150250, Orphanet:503|MONDO:MONDO:0007738,MedGen:C1837657,OMIM:107376821773768217CTNC_000010.10:g.73768217C>TClinGen:CA5548251C0175778 Larsen syndrome;
NM_004273.5(CHST3):c.*203A>G9469CHST3Likely benignrs77359818RCV000312993|RCV000349168|RCV000352703|RCV000399744; NMONDO:MONDO:0007875,MedGen:C0175778,OMIM:150250, Orphanet:503|MONDO:MONDO:0007738,MedGen:C1837657,OMIM:143095, Orphanet:263463|Human Phenotype Ontology:HP:0002652,Human Phenotype Ontology:HP:0005685,MedGen:C0410528|MONDO:MONDO:0008471,MedGen:C2745959,OMIM107376843273768432AGNC_000010.10:g.73768432A>GClinGen:CA10632075C0175778 Larsen syndrome;
NM_004273.5(CHST3):c.*255C>T9469CHST3Likely benignrs114569872RCV000266232|RCV000305074|RCV000321264|RCV000359859; NMONDO:MONDO:0007875,MedGen:C0175778,OMIM:150250, Orphanet:503|MONDO:MONDO:0007738,MedGen:C1837657,OMIM:143095, Orphanet:263463|MONDO:MONDO:0008471,MedGen:C2745959,OMIM:183900, Orphanet:94068|Human Phenotype Ontology:HP:0002652,Human Phenotype Ontology:HP:0107376848473768484CTNC_000010.10:g.73768484C>TClinGen:CA10636157C0175778 Larsen syndrome;
NM_004273.5(CHST3):c.*346C>T9469CHST3Uncertain significancers76094341RCV000289384|RCV000344330|RCV000347683|RCV000397678; NMONDO:MONDO:0008471,MedGen:C2745959,OMIM:183900, Orphanet:94068|Human Phenotype Ontology:HP:0002652,Human Phenotype Ontology:HP:0005685,MedGen:C0410528|MONDO:MONDO:0007875,MedGen:C0175778,OMIM:150250, Orphanet:503|MONDO:MONDO:0007738,MedGen:C1837657,OMIM:107376857573768575CTNC_000010.10:g.73768575C>TClinGen:CA10635777C0175778 Larsen syndrome;
NM_004273.5(CHST3):c.*406G>A9469CHST3Uncertain significancers80210009RCV000303105|RCV000357788|RCV000400785|RCV000398733; NMONDO:MONDO:0007875,MedGen:C0175778,OMIM:150250, Orphanet:503|MONDO:MONDO:0007738,MedGen:C1837657,OMIM:143095, Orphanet:263463|MONDO:MONDO:0008471,MedGen:C2745959,OMIM:183900, Orphanet:94068|Human Phenotype Ontology:HP:0002652,Human Phenotype Ontology:HP:0107376863573768635GANC_000010.10:g.73768635G>AClinGen:CA10632076C0175778 Larsen syndrome;
NM_004273.5(CHST3):c.*410C>T9469CHST3Uncertain significancers886047160RCV000299682|RCV000333672|RCV000354504|RCV000259736; NMONDO:MONDO:0007875,MedGen:C0175778,OMIM:150250, Orphanet:503|MONDO:MONDO:0008471,MedGen:C2745959,OMIM:183900, Orphanet:94068|Human Phenotype Ontology:HP:0002652,Human Phenotype Ontology:HP:0005685,MedGen:C0410528|MONDO:MONDO:0007738,MedGen:C1837657,OMIM:107376863973768639CTNC_000010.10:g.73768639C>TClinGen:CA10632081C0175778 Larsen syndrome;
NM_004273.5(CHST3):c.*469C>A9469CHST3Uncertain significancers539699501RCV000275034|RCV000330074|RCV000369101|RCV000384562; NMONDO:MONDO:0007738,MedGen:C1837657,OMIM:143095, Orphanet:263463|MONDO:MONDO:0008471,MedGen:C2745959,OMIM:183900, Orphanet:94068|MONDO:MONDO:0007875,MedGen:C0175778,OMIM:150250, Orphanet:503|Human Phenotype Ontology:HP:0002652,Human Phenotype Ontology:HP:0107376869873768698CANC_000010.10:g.73768698C>AClinGen:CA10635778C0175778 Larsen syndrome;
NM_004273.5(CHST3):c.*483G>A9469CHST3Likely benignrs113283291RCV000286651|RCV000290149|RCV000326461|RCV000380972; NHuman Phenotype Ontology:HP:0002652,Human Phenotype Ontology:HP:0005685,MedGen:C0410528|MONDO:MONDO:0008471,MedGen:C2745959,OMIM:183900, Orphanet:94068|MONDO:MONDO:0007875,MedGen:C0175778,OMIM:150250, Orphanet:503|MONDO:MONDO:0007738,MedGen:C1837657,OMIM:107376871273768712GANC_000010.10:g.73768712G>AClinGen:CA10632085C0175778 Larsen syndrome;
NM_004273.5(CHST3):c.*523A>G9469CHST3Uncertain significancers189173490RCV000283540|RCV000342042|RCV000338628|RCV000396843; NMONDO:MONDO:0007875,MedGen:C0175778,OMIM:150250, Orphanet:503|MONDO:MONDO:0007738,MedGen:C1837657,OMIM:143095, Orphanet:263463|MONDO:MONDO:0008471,MedGen:C2745959,OMIM:183900, Orphanet:94068|Human Phenotype Ontology:HP:0002652,Human Phenotype Ontology:HP:0107376875273768752AGNC_000010.10:g.73768752A>GClinGen:CA10628894C0175778 Larsen syndrome;
NM_004273.5(CHST3):c.*544C>T9469CHST3Uncertain significancers886047161RCV000298851|RCV000353651|RCV000390470|RCV000400461; NMONDO:MONDO:0007875,MedGen:C0175778,OMIM:150250, Orphanet:503|Human Phenotype Ontology:HP:0002652,Human Phenotype Ontology:HP:0005685,MedGen:C0410528|MONDO:MONDO:0007738,MedGen:C1837657,OMIM:143095, Orphanet:263463|MONDO:MONDO:0008471,MedGen:C2745959,OMIM107376877373768773CTNC_000010.10:g.73768773C>TClinGen:CA10636158C0175778 Larsen syndrome;
NM_004273.5(CHST3):c.*809C>T9469CHST3Uncertain significancers145689465RCV000270927|RCV000326007|RCV000365445|RCV000380640; NMONDO:MONDO:0008471,MedGen:C2745959,OMIM:183900, Orphanet:94068|MONDO:MONDO:0007875,MedGen:C0175778,OMIM:150250, Orphanet:503|Human Phenotype Ontology:HP:0002652,Human Phenotype Ontology:HP:0005685,MedGen:C0410528|MONDO:MONDO:0007738,MedGen:C1837657,OMIM:107376903873769038CTNC_000010.10:g.73769038C>TClinGen:CA10632088C0175778 Larsen syndrome;
NM_004273.5(CHST3):c.*812G>A9469CHST3Uncertain significancers886047162RCV000265095|RCV000282654|RCV000322503|RCV000374762; NMONDO:MONDO:0008471,MedGen:C2745959,OMIM:183900, Orphanet:94068|MONDO:MONDO:0007875,MedGen:C0175778,OMIM:150250, Orphanet:503|Human Phenotype Ontology:HP:0002652,Human Phenotype Ontology:HP:0005685,MedGen:C0410528|MONDO:MONDO:0007738,MedGen:C1837657,OMIM:107376904173769041GANC_000010.10:g.73769041G>AClinGen:CA10628896C0175778 Larsen syndrome;
NM_004273.5(CHST3):c.*856C>G9469CHST3Uncertain significancers186004202RCV000267046|RCV000307071|RCV000305844|RCV000364038; NMONDO:MONDO:0008471,MedGen:C2745959,OMIM:183900, Orphanet:94068|Human Phenotype Ontology:HP:0002652,Human Phenotype Ontology:HP:0005685,MedGen:C0410528|MONDO:MONDO:0007875,MedGen:C0175778,OMIM:150250, Orphanet:503|MONDO:MONDO:0007738,MedGen:C1837657,OMIM:107376908573769085CGNC_000010.10:g.73769085C>GClinGen:CA10632091C0175778 Larsen syndrome;
NM_004273.5(CHST3):c.*922C>T9469CHST3Uncertain significancers886047164RCV000295659|RCV000317256|RCV000388112|RCV000259661; NHuman Phenotype Ontology:HP:0002652,Human Phenotype Ontology:HP:0005685,MedGen:C0410528|MONDO:MONDO:0008471,MedGen:C2745959,OMIM:183900, Orphanet:94068|MONDO:MONDO:0007875,MedGen:C0175778,OMIM:150250, Orphanet:503|MONDO:MONDO:0007738,MedGen:C1837657,OMIM:107376915173769151CTNC_000010.10:g.73769151C>TClinGen:CA10628897C0175778 Larsen syndrome;
NM_004273.5(CHST3):c.*981A>T9469CHST3Uncertain significancers573670057RCV000290236|RCV000347579|RCV000348810|RCV000386974; NMONDO:MONDO:0007738,MedGen:C1837657,OMIM:143095, Orphanet:263463|Human Phenotype Ontology:HP:0002652,Human Phenotype Ontology:HP:0005685,MedGen:C0410528|MONDO:MONDO:0007875,MedGen:C0175778,OMIM:150250, Orphanet:503|MONDO:MONDO:0008471,MedGen:C2745959,OMIM107376921073769210ATNC_000010.10:g.73769210A>TClinGen:CA10635785C0175778 Larsen syndrome;
NM_004273.5(CHST3):c.*1009C>T9469CHST3Uncertain significancers190763138RCV000297431|RCV000303443|RCV000355927|RCV000402223; NMONDO:MONDO:0007738,MedGen:C1837657,OMIM:143095, Orphanet:263463|MONDO:MONDO:0008471,MedGen:C2745959,OMIM:183900, Orphanet:94068|MONDO:MONDO:0007875,MedGen:C0175778,OMIM:150250, Orphanet:503|Human Phenotype Ontology:HP:0002652,Human Phenotype Ontology:HP:0107376923873769238CT10:g.73769238C>TClinGen:CA10635792C0175778 Larsen syndrome;
NM_004273.5(CHST3):c.*1042C>G9469CHST3Uncertain significancers886047165RCV000276550|RCV000333877|RCV000354905|RCV000367528; NMONDO:MONDO:0008471,MedGen:C2745959,OMIM:183900, Orphanet:94068|MONDO:MONDO:0007738,MedGen:C1837657,OMIM:143095, Orphanet:263463|MONDO:MONDO:0007875,MedGen:C0175778,OMIM:150250, Orphanet:503|Human Phenotype Ontology:HP:0002652,Human Phenotype Ontology:HP:0107376927173769271CG10:g.73769271C>GClinGen:CA10632095C0175778 Larsen syndrome;
NM_004273.5(CHST3):c.*1053A>T9469CHST3Uncertain significancers886047166RCV000275439|RCV000288425|RCV000328124|RCV000385090; NMONDO:MONDO:0008471,MedGen:C2745959,OMIM:183900, Orphanet:94068|MONDO:MONDO:0007875,MedGen:C0175778,OMIM:150250, Orphanet:503|MONDO:MONDO:0007738,MedGen:C1837657,OMIM:143095, Orphanet:263463|Human Phenotype Ontology:HP:0002652,Human Phenotype Ontology:HP:0107376928273769282AT10:g.73769282A>TClinGen:CA10636159C0175778 Larsen syndrome;
NM_004273.5(CHST3):c.*1088A>G9469CHST3Uncertain significancers115617050RCV000286319|RCV000327083|RCV000338969|RCV000379390; NMONDO:MONDO:0007875,MedGen:C0175778,OMIM:150250, Orphanet:503|MONDO:MONDO:0008471,MedGen:C2745959,OMIM:183900, Orphanet:94068|Human Phenotype Ontology:HP:0002652,Human Phenotype Ontology:HP:0005685,MedGen:C0410528|MONDO:MONDO:0007738,MedGen:C1837657,OMIM:107376931773769317AG10:g.73769317A>GClinGen:CA10628903C0175778 Larsen syndrome;
NM_004273.5(CHST3):c.*1088A>T9469CHST3Uncertain significancers115617050RCV000281547|RCV000338818|RCV000397014|RCV000397003; NMONDO:MONDO:0008471,MedGen:C2745959,OMIM:183900, Orphanet:94068|MONDO:MONDO:0007875,MedGen:C0175778,OMIM:150250, Orphanet:503|Human Phenotype Ontology:HP:0002652,Human Phenotype Ontology:HP:0005685,MedGen:C0410528|MONDO:MONDO:0007738,MedGen:C1837657,OMIM:107376931773769317AT10:g.73769317A>TClinGen:CA10628904C0175778 Larsen syndrome;
NM_004273.5(CHST3):c.*1090G>A9469CHST3Uncertain significancers148125052RCV000298967|RCV000311877|RCV000369957|RCV000399162; NHuman Phenotype Ontology:HP:0002652,Human Phenotype Ontology:HP:0005685,MedGen:C0410528|MONDO:MONDO:0007738,MedGen:C1837657,OMIM:143095, Orphanet:263463|MONDO:MONDO:0007875,MedGen:C0175778,OMIM:150250, Orphanet:503|MONDO:MONDO:0008471,MedGen:C2745959,OMIM107376931973769319GA10:g.73769319G>AClinGen:CA10632099C0175778 Larsen syndrome;
NM_004273.5(CHST3):c.*1091G>T9469CHST3Uncertain significancers886047167RCV000271692|RCV000329048|RCV000362698|RCV000368661; NMONDO:MONDO:0008471,MedGen:C2745959,OMIM:183900, Orphanet:94068|MONDO:MONDO:0007875,MedGen:C0175778,OMIM:150250, Orphanet:503|Human Phenotype Ontology:HP:0002652,Human Phenotype Ontology:HP:0005685,MedGen:C0410528|MONDO:MONDO:0007738,MedGen:C1837657,OMIM:107376932073769320GT10:g.73769320G>TClinGen:CA10632107C0175778 Larsen syndrome;
NM_004273.5(CHST3):c.*1101T>G9469CHST3Likely benignrs116999241RCV000270680|RCV000283525|RCV000323430|RCV000380251; NMONDO:MONDO:0007875,MedGen:C0175778,OMIM:150250, Orphanet:503|Human Phenotype Ontology:HP:0002652,Human Phenotype Ontology:HP:0005685,MedGen:C0410528|MONDO:MONDO:0008471,MedGen:C2745959,OMIM:183900, Orphanet:94068|MONDO:MONDO:0007738,MedGen:C1837657,OMIM:107376933073769330TG10:g.73769330T>GClinGen:CA10636160C0175778 Larsen syndrome;
NM_004273.5(CHST3):c.*1130C>G9469CHST3Uncertain significancers4148942RCV000278403|RCV000318256|RCV000335862|RCV000375155; NMONDO:MONDO:0007738,MedGen:C1837657,OMIM:143095, Orphanet:263463|MONDO:MONDO:0008471,MedGen:C2745959,OMIM:183900, Orphanet:94068|MONDO:MONDO:0007875,MedGen:C0175778,OMIM:150250, Orphanet:503|Human Phenotype Ontology:HP:0002652,Human Phenotype Ontology:HP:0107376935973769359CG10:g.73769359C>GClinGen:CA10632108C0175778 Larsen syndrome;
NM_004273.5(CHST3):c.*1184C>G9469CHST3Uncertain significancers187692473RCV000295746|RCV000348288|RCV000395531|RCV000395534; NMONDO:MONDO:0007875,MedGen:C0175778,OMIM:150250, Orphanet:503|Human Phenotype Ontology:HP:0002652,Human Phenotype Ontology:HP:0005685,MedGen:C0410528|MONDO:MONDO:0008471,MedGen:C2745959,OMIM:183900, Orphanet:94068|MONDO:MONDO:0007738,MedGen:C1837657,OMIM:107376941373769413CG10:g.73769413C>GClinGen:CA10628907C0175778 Larsen syndrome;
NM_004273.5(CHST3):c.*1244G>T9469CHST3Uncertain significancers886047168RCV000267825|RCV000301909|RCV000359087|RCV000360119; NMONDO:MONDO:0007738,MedGen:C1837657,OMIM:143095, Orphanet:263463|Human Phenotype Ontology:HP:0002652,Human Phenotype Ontology:HP:0005685,MedGen:C0410528|MONDO:MONDO:0007875,MedGen:C0175778,OMIM:150250, Orphanet:503|MONDO:MONDO:0008471,MedGen:C2745959,OMIM107376947373769473GT10:g.73769473G>TClinGen:CA10628909C0175778 Larsen syndrome;
NM_004273.5(CHST3):c.*1256G>A9469CHST3Uncertain significancers886047169RCV000262289|RCV000319737|RCV000372030|RCV000261025; NMONDO:MONDO:0007875,MedGen:C0175778,OMIM:150250, Orphanet:503|Human Phenotype Ontology:HP:0002652,Human Phenotype Ontology:HP:0005685,MedGen:C0410528|MONDO:MONDO:0007738,MedGen:C1837657,OMIM:143095, Orphanet:263463|MONDO:MONDO:0008471,MedGen:C2745959,OMIM107376948573769485GA10:g.73769485G>AClinGen:CA10635798C0175778 Larsen syndrome;
NM_004273.5(CHST3):c.*1361C>T9469CHST3Benignrs4148945RCV000302848|RCV000303933|RCV000339038|RCV000401659; NMONDO:MONDO:0007875,MedGen:C0175778,OMIM:150250, Orphanet:503|Human Phenotype Ontology:HP:0002652,Human Phenotype Ontology:HP:0005685,MedGen:C0410528|MONDO:MONDO:0008471,MedGen:C2745959,OMIM:183900, Orphanet:94068|MONDO:MONDO:0007738,MedGen:C1837657,OMIM:107376959073769590CT10:g.73769590C>TClinGen:CA10632109C0175778 Larsen syndrome;
NM_004273.5(CHST3):c.*1399T>C9469CHST3Uncertain significancers562405951RCV000270875|RCV000274227|RCV000334010|RCV000388579; NMONDO:MONDO:0007875,MedGen:C0175778,OMIM:150250, Orphanet:503|Human Phenotype Ontology:HP:0002652,Human Phenotype Ontology:HP:0005685,MedGen:C0410528|MONDO:MONDO:0007738,MedGen:C1837657,OMIM:143095, Orphanet:263463|MONDO:MONDO:0008471,MedGen:C2745959,OMIM107376962873769628TC10:g.73769628T>CClinGen:CA10632115C0175778 Larsen syndrome;
NM_004273.5(CHST3):c.*1404C>G9469CHST3Uncertain significancers886047170RCV000290376|RCV000325618|RCV000340695|RCV000384810; NHuman Phenotype Ontology:HP:0002652,Human Phenotype Ontology:HP:0005685,MedGen:C0410528|MONDO:MONDO:0008471,MedGen:C2745959,OMIM:183900, Orphanet:94068|MONDO:MONDO:0007875,MedGen:C0175778,OMIM:150250, Orphanet:503|MONDO:MONDO:0007738,MedGen:C1837657,OMIM:107376963373769633CGNC_000010.10:g.73769633C>GClinGen:CA10628914C0175778 Larsen syndrome;
NM_004273.5(CHST3):c.*1425C>T9469CHST3Likely benignrs80269486RCV000286973|RCV000342116|RCV000376836|RCV000397054; NMONDO:MONDO:0008471,MedGen:C2745959,OMIM:183900, Orphanet:94068|Human Phenotype Ontology:HP:0002652,Human Phenotype Ontology:HP:0005685,MedGen:C0410528|MONDO:MONDO:0007875,MedGen:C0175778,OMIM:150250, Orphanet:503|MONDO:MONDO:0007738,MedGen:C1837657,OMIM:107376965473769654CTNC_000010.10:g.73769654C>TClinGen:CA10635811C0175778 Larsen syndrome;
NM_004273.5(CHST3):c.*1426T>C9469CHST3Likely benignrs76062174RCV000278345|RCV000312252|RCV000338125|RCV000397065; NMONDO:MONDO:0007875,MedGen:C0175778,OMIM:150250, Orphanet:503|MONDO:MONDO:0007738,MedGen:C1837657,OMIM:143095, Orphanet:263463|Human Phenotype Ontology:HP:0002652,Human Phenotype Ontology:HP:0005685,MedGen:C0410528|MONDO:MONDO:0008471,MedGen:C2745959,OMIM107376965573769655TCNC_000010.10:g.73769655T>CClinGen:CA10635812C0175778 Larsen syndrome;
NM_004273.5(CHST3):c.*1447C>A9469CHST3Likely benignrs76808415RCV000313233|RCV000363292|RCV000366854|RCV000400871; NMONDO:MONDO:0007875,MedGen:C0175778,OMIM:150250, Orphanet:503|MONDO:MONDO:0007738,MedGen:C1837657,OMIM:143095, Orphanet:263463|Human Phenotype Ontology:HP:0002652,Human Phenotype Ontology:HP:0005685,MedGen:C0410528|MONDO:MONDO:0008471,MedGen:C2745959,OMIM107376967673769676CANC_000010.10:g.73769676C>AClinGen:CA10628915C0175778 Larsen syndrome;
NM_004273.5(CHST3):c.*1584T>G9469CHST3Uncertain significancers886047171RCV000281084|RCV000349982|RCV000375559|RCV000405841; NMONDO:MONDO:0007738,MedGen:C1837657,OMIM:143095, Orphanet:263463|Human Phenotype Ontology:HP:0002652,Human Phenotype Ontology:HP:0005685,MedGen:C0410528|MONDO:MONDO:0007875,MedGen:C0175778,OMIM:150250, Orphanet:503|MONDO:MONDO:0008471,MedGen:C2745959,OMIM107376981373769813TGNC_000010.10:g.73769813T>GClinGen:CA10635813C0175778 Larsen syndrome;
NM_004273.5(CHST3):c.*1621C>G9469CHST3Uncertain significancers768478124RCV000296431|RCV000307102|RCV000351318|RCV000396296; NHuman Phenotype Ontology:HP:0002652,Human Phenotype Ontology:HP:0005685,MedGen:C0410528|MONDO:MONDO:0007875,MedGen:C0175778,OMIM:150250, Orphanet:503|MONDO:MONDO:0008471,MedGen:C2745959,OMIM:183900, Orphanet:94068|MONDO:MONDO:0007738,MedGen:C1837657,OMIM:107376985073769850CGNC_000010.10:g.73769850C>GClinGen:CA10636165C0175778 Larsen syndrome;
NM_004273.5(CHST3):c.*1664G>C9469CHST3Uncertain significancers375960396RCV000302890|RCV000357652|RCV000366461|RCV000399197; NMONDO:MONDO:0007875,MedGen:C0175778,OMIM:150250, Orphanet:503|MONDO:MONDO:0007738,MedGen:C1837657,OMIM:143095, Orphanet:263463|MONDO:MONDO:0008471,MedGen:C2745959,OMIM:183900, Orphanet:94068|Human Phenotype Ontology:HP:0002652,Human Phenotype Ontology:HP:0107376989373769893GCNC_000010.10:g.73769893G>CClinGen:CA10628920C0175778 Larsen syndrome;
NM_004273.5(CHST3):c.*1698C>G9469CHST3Uncertain significancers377338550RCV000267573|RCV000322707|RCV000354075|RCV000259294; NHuman Phenotype Ontology:HP:0002652,Human Phenotype Ontology:HP:0005685,MedGen:C0410528|MONDO:MONDO:0007875,MedGen:C0175778,OMIM:150250, Orphanet:503|MONDO:MONDO:0007738,MedGen:C1837657,OMIM:143095, Orphanet:263463|MONDO:MONDO:0008471,MedGen:C2745959,OMIM107376992773769927CGNC_000010.10:g.73769927C>GClinGen:CA10636168C0175778 Larsen syndrome;
NM_004273.5(CHST3):c.*1823G>C9469CHST3Likely benignrs116289781RCV000294380|RCV000320125|RCV000330718|RCV000374735; NMONDO:MONDO:0008471,MedGen:C2745959,OMIM:183900, Orphanet:94068|Human Phenotype Ontology:HP:0002652,Human Phenotype Ontology:HP:0005685,MedGen:C0410528|MONDO:MONDO:0007875,MedGen:C0175778,OMIM:150250, Orphanet:503|MONDO:MONDO:0007738,MedGen:C1837657,OMIM:107377005273770052GCNC_000010.10:g.73770052G>CClinGen:CA10628922C0175778 Larsen syndrome;
NM_004273.5(CHST3):c.*1844C>T9469CHST3Benignrs4148946RCV000295614|RCV000345796|RCV000381696|RCV000389670; NHuman Phenotype Ontology:HP:0002652,Human Phenotype Ontology:HP:0005685,MedGen:C0410528|MONDO:MONDO:0007875,MedGen:C0175778,OMIM:150250, Orphanet:503|MONDO:MONDO:0007738,MedGen:C1837657,OMIM:143095, Orphanet:263463|MONDO:MONDO:0008471,MedGen:C2745959,OMIM107377007373770073CTNC_000010.10:g.73770073C>TClinGen:CA10636175C0175778 Larsen syndrome;
NM_004273.5(CHST3):c.*1888T>C9469CHST3Benignrs4148947RCV000291634|RCV000302226|RCV000346599|RCV000394400; NMONDO:MONDO:0007875,MedGen:C0175778,OMIM:150250, Orphanet:503|MONDO:MONDO:0008471,MedGen:C2745959,OMIM:183900, Orphanet:94068|Human Phenotype Ontology:HP:0002652,Human Phenotype Ontology:HP:0005685,MedGen:C0410528|MONDO:MONDO:0007738,MedGen:C1837657,OMIM:107377011773770117TCNC_000010.10:g.73770117T>CClinGen:CA10635816C0175778 Larsen syndrome;
NM_004273.5(CHST3):c.*1899G>A9469CHST3Likely benignrs17297481RCV000298826|RCV000343193|RCV000353753|RCV000394436; NMONDO:MONDO:0007875,MedGen:C0175778,OMIM:150250, Orphanet:503|MONDO:MONDO:0008471,MedGen:C2745959,OMIM:183900, Orphanet:94068|Human Phenotype Ontology:HP:0002652,Human Phenotype Ontology:HP:0005685,MedGen:C0410528|MONDO:MONDO:0007738,MedGen:C1837657,OMIM:107377012873770128GANC_000010.10:g.73770128G>AClinGen:CA10635819C0175778 Larsen syndrome;
NM_004273.5(CHST3):c.*1960G>A9469CHST3Uncertain significancers886047172RCV000261833|RCV000277080|RCV000312295|RCV000366963; NMONDO:MONDO:0007738,MedGen:C1837657,OMIM:143095, Orphanet:263463|MONDO:MONDO:0007875,MedGen:C0175778,OMIM:150250, Orphanet:503|MONDO:MONDO:0008471,MedGen:C2745959,OMIM:183900, Orphanet:94068|Human Phenotype Ontology:HP:0002652,Human Phenotype Ontology:HP:0107377018973770189GANC_000010.10:g.73770189G>AClinGen:CA10635820C0175778 Larsen syndrome;
NM_004273.5(CHST3):c.*1978GT[4]9469CHST3Likely benignrs150678709RCV000268788|RCV000328493|RCV000332005|RCV000381955; NMONDO:MONDO:0007875,MedGen:C0175778,OMIM:150250, Orphanet:503|Human Phenotype Ontology:HP:0002652,Human Phenotype Ontology:HP:0005685,MedGen:C0410528|MONDO:MONDO:0007738,MedGen:C1837657,OMIM:143095, Orphanet:263463|MONDO:MONDO:0008471,MedGen:C2745959,OMIM107377020673770207AAGTNC_000010.10:g.73770207GT[4]ClinGen:CA10628924C0175778 Larsen syndrome;
NM_004273.5(CHST3):c.*2026A>G9469CHST3Likely benignrs115545740RCV000284374|RCV000339442|RCV000380073|RCV000383468; NMONDO:MONDO:0008471,MedGen:C2745959,OMIM:183900, Orphanet:94068|MONDO:MONDO:0007875,MedGen:C0175778,OMIM:150250, Orphanet:503|MONDO:MONDO:0007738,MedGen:C1837657,OMIM:143095, Orphanet:263463|Human Phenotype Ontology:HP:0002652,Human Phenotype Ontology:HP:0107377025573770255AGNC_000010.10:g.73770255A>GClinGen:CA10632125C0175778 Larsen syndrome;
NM_004273.5(CHST3):c.*2126A>C9469CHST3Likely benignrs7072219RCV000285653|RCV000300879|RCV000335939|RCV000395807; NHuman Phenotype Ontology:HP:0002652,Human Phenotype Ontology:HP:0005685,MedGen:C0410528|MONDO:MONDO:0007875,MedGen:C0175778,OMIM:150250, Orphanet:503|MONDO:MONDO:0007738,MedGen:C1837657,OMIM:143095, Orphanet:263463|MONDO:MONDO:0008471,MedGen:C2745959,OMIM107377035573770355ACNC_000010.10:g.73770355A>CClinGen:CA10628926C0175778 Larsen syndrome;
NM_004273.5(CHST3):c.*2163A>G9469CHST3Likely benignrs114563668RCV000311615|RCV000337280|RCV000370895|RCV000395801; NMONDO:MONDO:0008471,MedGen:C2745959,OMIM:183900, Orphanet:94068|MONDO:MONDO:0007875,MedGen:C0175778,OMIM:150250, Orphanet:503|Human Phenotype Ontology:HP:0002652,Human Phenotype Ontology:HP:0005685,MedGen:C0410528|MONDO:MONDO:0007738,MedGen:C1837657,OMIM:107377039273770392AGNC_000010.10:g.73770392A>GClinGen:CA10636176C0175778 Larsen syndrome;
NM_004273.5(CHST3):c.*2178G>T9469CHST3Uncertain significancers886047174RCV000271320|RCV000276442|RCV000308187|RCV000362904; NMONDO:MONDO:0007738,MedGen:C1837657,OMIM:143095, Orphanet:263463|MONDO:MONDO:0007875,MedGen:C0175778,OMIM:150250, Orphanet:503|MONDO:MONDO:0008471,MedGen:C2745959,OMIM:183900, Orphanet:94068|Human Phenotype Ontology:HP:0002652,Human Phenotype Ontology:HP:0107377040773770407GTNC_000010.10:g.73770407G>TClinGen:CA10628931C0175778 Larsen syndrome;
NM_004273.5(CHST3):c.*2226A>G9469CHST3Uncertain significancers886047175RCV000265306|RCV000322766|RCV000328648|RCV000376275; NMONDO:MONDO:0008471,MedGen:C2745959,OMIM:183900, Orphanet:94068|Human Phenotype Ontology:HP:0002652,Human Phenotype Ontology:HP:0005685,MedGen:C0410528|MONDO:MONDO:0007875,MedGen:C0175778,OMIM:150250, Orphanet:503|MONDO:MONDO:0007738,MedGen:C1837657,OMIM:107377045573770455AGNC_000010.10:g.73770455A>GClinGen:CA10628937C0175778 Larsen syndrome;
NM_004273.5(CHST3):c.*2349A>G9469CHST3Benignrs4148948RCV000278037|RCV000316899|RCV000373809|RCV000379603; NMONDO:MONDO:0008471,MedGen:C2745959,OMIM:183900, Orphanet:94068|Human Phenotype Ontology:HP:0002652,Human Phenotype Ontology:HP:0005685,MedGen:C0410528|MONDO:MONDO:0007875,MedGen:C0175778,OMIM:150250, Orphanet:503|MONDO:MONDO:0007738,MedGen:C1837657,OMIM:107377057873770578AGNC_000010.10:g.73770578A>GClinGen:CA10628940C0175778 Larsen syndrome;
NM_004273.5(CHST3):c.*2391C>T9469CHST3Likely benignrs116391584RCV000293174|RCV000296566|RCV000350467|RCV000390597; NMONDO:MONDO:0007738,MedGen:C1837657,OMIM:143095, Orphanet:263463|MONDO:MONDO:0007875,MedGen:C0175778,OMIM:150250, Orphanet:503|Human Phenotype Ontology:HP:0002652,Human Phenotype Ontology:HP:0005685,MedGen:C0410528|MONDO:MONDO:0008471,MedGen:C2745959,OMIM107377062073770620CTNC_000010.10:g.73770620C>TClinGen:CA10636187C0175778 Larsen syndrome;
NM_004273.5(CHST3):c.*2422T>C9469CHST3Benignrs4148949RCV000309612|RCV000344745|RCV000366701|RCV000395653; NHuman Phenotype Ontology:HP:0002652,Human Phenotype Ontology:HP:0005685,MedGen:C0410528|MONDO:MONDO:0007875,MedGen:C0175778,OMIM:150250, Orphanet:503|MONDO:MONDO:0007738,MedGen:C1837657,OMIM:143095, Orphanet:263463|MONDO:MONDO:0008471,MedGen:C2745959,OMIM107377065173770651TCNC_000010.10:g.73770651T>CClinGen:CA10628943C0175778 Larsen syndrome;
NM_004273.5(CHST3):c.*2592C>T9469CHST3Uncertain significancers886047176RCV000268194|RCV000303334|RCV000360495|RCV000395650; NHuman Phenotype Ontology:HP:0002652,Human Phenotype Ontology:HP:0005685,MedGen:C0410528|MONDO:MONDO:0007738,MedGen:C1837657,OMIM:143095, Orphanet:263463|MONDO:MONDO:0007875,MedGen:C0175778,OMIM:150250, Orphanet:503|MONDO:MONDO:0008471,MedGen:C2745959,OMIM107377082173770821CTNC_000010.10:g.73770821C>TClinGen:CA10628945C0175778 Larsen syndrome;
NM_004273.5(CHST3):c.*2656A>G9469CHST3Uncertain significancers886047177RCV000262524|RCV000316362|RCV000319960|RCV000354811; NMONDO:MONDO:0008471,MedGen:C2745959,OMIM:183900, Orphanet:94068|Human Phenotype Ontology:HP:0002652,Human Phenotype Ontology:HP:0005685,MedGen:C0410528|MONDO:MONDO:0007875,MedGen:C0175778,OMIM:150250, Orphanet:503|MONDO:MONDO:0007738,MedGen:C1837657,OMIM:107377088573770885AG10:g.73770885A>GClinGen:CA10628948C0175778 Larsen syndrome;
NM_004273.5(CHST3):c.*2660C>T9469CHST3Uncertain significancers143743853RCV000293576|RCV000332075|RCV000385531|RCV000388986; NHuman Phenotype Ontology:HP:0002652,Human Phenotype Ontology:HP:0005685,MedGen:C0410528|MONDO:MONDO:0008471,MedGen:C2745959,OMIM:183900, Orphanet:94068|MONDO:MONDO:0007875,MedGen:C0175778,OMIM:150250, Orphanet:503|MONDO:MONDO:0007738,MedGen:C1837657,OMIM:107377088973770889CT10:g.73770889C>TClinGen:CA10636189C0175778 Larsen syndrome;
NM_004273.5(CHST3):c.*2718G>A9469CHST3Likely benignrs115489836RCV000287484|RCV000291076|RCV000344754|RCV000405434; NHuman Phenotype Ontology:HP:0002652,Human Phenotype Ontology:HP:0005685,MedGen:C0410528|MONDO:MONDO:0008471,MedGen:C2745959,OMIM:183900, Orphanet:94068|MONDO:MONDO:0007875,MedGen:C0175778,OMIM:150250, Orphanet:503|MONDO:MONDO:0007738,MedGen:C1837657,OMIM:107377094773770947GA10:g.73770947G>AClinGen:CA10635821C0175778 Larsen syndrome;
NM_004273.5(CHST3):c.*2826G>A9469CHST3Likely benignrs114457501RCV000304251|RCV000339376|RCV000361262|RCV000394342; NMONDO:MONDO:0008471,MedGen:C2745959,OMIM:183900, Orphanet:94068|MONDO:MONDO:0007875,MedGen:C0175778,OMIM:150250, Orphanet:503|MONDO:MONDO:0007738,MedGen:C1837657,OMIM:143095, Orphanet:263463|Human Phenotype Ontology:HP:0002652,Human Phenotype Ontology:HP:0107377105573771055GA10:g.73771055G>AClinGen:CA10636205C0175778 Larsen syndrome;
NM_004273.5(CHST3):c.*2843_*2844del9469CHST3Uncertain significancers886047178RCV000263280|RCV000298593|RCV000355660|RCV000394345; NMONDO:MONDO:0008471,MedGen:C2745959,OMIM:183900, Orphanet:94068|MONDO:MONDO:0007738,MedGen:C1837657,OMIM:143095, Orphanet:263463|MONDO:MONDO:0007875,MedGen:C0175778,OMIM:150250, Orphanet:503|Human Phenotype Ontology:HP:0002652,Human Phenotype Ontology:HP:0107377107273771073CAGC10:g.73771072_73771073delClinGen:CA10635822C0175778 Larsen syndrome;
NM_004273.5(CHST3):c.*3039C>T9469CHST3Likely benignrs74145519RCV000271392|RCV000328739|RCV000376357|RCV000382573; NMONDO:MONDO:0008471,MedGen:C2745959,OMIM:183900, Orphanet:94068|MONDO:MONDO:0007875,MedGen:C0175778,OMIM:150250, Orphanet:503|Human Phenotype Ontology:HP:0002652,Human Phenotype Ontology:HP:0005685,MedGen:C0410528|MONDO:MONDO:0007738,MedGen:C1837657,OMIM:107377126873771268CT10:g.73771268C>TClinGen:CA10636208C0175778 Larsen syndrome;
NM_004273.5(CHST3):c.*3053C>T9469CHST3Benignrs12172746RCV000278263|RCV000284122|RCV000341502|RCV000379666; NMONDO:MONDO:0007875,MedGen:C0175778,OMIM:150250, Orphanet:503|Human Phenotype Ontology:HP:0002652,Human Phenotype Ontology:HP:0005685,MedGen:C0410528|MONDO:MONDO:0008471,MedGen:C2745959,OMIM:183900, Orphanet:94068|MONDO:MONDO:0007738,MedGen:C1837657,OMIM:107377128273771282CT10:g.73771282C>TClinGen:CA10635823C0175778 Larsen syndrome;
NM_004273.5(CHST3):c.*3131G>A9469CHST3Uncertain significancers577353046RCV000269599|RCV000314215|RCV000371193|RCV000398008; NMONDO:MONDO:0007738,MedGen:C1837657,OMIM:143095, Orphanet:263463|Human Phenotype Ontology:HP:0002652,Human Phenotype Ontology:HP:0005685,MedGen:C0410528|MONDO:MONDO:0007875,MedGen:C0175778,OMIM:150250, Orphanet:503|MONDO:MONDO:0008471,MedGen:C2745959,OMIM107377136073771360GA10:g.73771360G>AClinGen:CA10635824C0175778 Larsen syndrome;
NM_004273.5(CHST3):c.*3245G>A9469CHST3Uncertain significancers545967470RCV000266948|RCV000324435|RCV000372109|RCV000377835; NMONDO:MONDO:0008471,MedGen:C2745959,OMIM:183900, Orphanet:94068|MONDO:MONDO:0007875,MedGen:C0175778,OMIM:150250, Orphanet:503|Human Phenotype Ontology:HP:0002652,Human Phenotype Ontology:HP:0005685,MedGen:C0410528|MONDO:MONDO:0007738,MedGen:C1837657,OMIM:107377147473771474GA10:g.73771474G>AClinGen:CA10636209C0175778 Larsen syndrome;
NM_004273.5(CHST3):c.*3306A>G9469CHST3Uncertain significancers12250549RCV000280198|RCV000293058|RCV000337570|RCV000375776; NMONDO:MONDO:0007875,MedGen:C0175778,OMIM:150250, Orphanet:503|Human Phenotype Ontology:HP:0002652,Human Phenotype Ontology:HP:0005685,MedGen:C0410528|MONDO:MONDO:0008471,MedGen:C2745959,OMIM:183900, Orphanet:94068|MONDO:MONDO:0007738,MedGen:C1837657,OMIM:107377153573771535AG10:g.73771535A>GClinGen:CA10635829C0175778 Larsen syndrome;
NM_004273.5(CHST3):c.*3384G>A9469CHST3Uncertain significancers886047180RCV000306489|RCV000345000|RCV000350780|RCV000402600; NHuman Phenotype Ontology:HP:0002652,Human Phenotype Ontology:HP:0005685,MedGen:C0410528|MONDO:MONDO:0007738,MedGen:C1837657,OMIM:143095, Orphanet:263463|MONDO:MONDO:0007875,MedGen:C0175778,OMIM:150250, Orphanet:503|MONDO:MONDO:0008471,MedGen:C2745959,OMIM107377161373771613GA10:g.73771613G>AClinGen:CA10635833C0175778 Larsen syndrome;
NM_004273.5(CHST3):c.*3555G>A9469CHST3Likely benignrs4148951RCV000263214|RCV000330147|RCV000355701|RCV000386961; NMONDO:MONDO:0007875,MedGen:C0175778,OMIM:150250, Orphanet:503|MONDO:MONDO:0008471,MedGen:C2745959,OMIM:183900, Orphanet:94068|MONDO:MONDO:0007738,MedGen:C1837657,OMIM:143095, Orphanet:263463|Human Phenotype Ontology:HP:0002652,Human Phenotype Ontology:HP:0107377178473771784GA10:g.73771784G>AClinGen:CA10636211C0175778 Larsen syndrome;
NM_004273.5(CHST3):c.*3565A>G9469CHST3Uncertain significancers151095465RCV000294944|RCV000295062|RCV000333742|RCV000381339; NMONDO:MONDO:0007875,MedGen:C0175778,OMIM:150250, Orphanet:503|MONDO:MONDO:0008471,MedGen:C2745959,OMIM:183900, Orphanet:94068|MONDO:MONDO:0007738,MedGen:C1837657,OMIM:143095, Orphanet:263463|Human Phenotype Ontology:HP:0002652,Human Phenotype Ontology:HP:0107377179473771794AG10:g.73771794A>GClinGen:CA10635834C0175778 Larsen syndrome;
NM_004273.5(CHST3):c.*3571T>C9469CHST3Uncertain significancers575592721RCV000281867|RCV000336958|RCV000349843|RCV000404336; NHuman Phenotype Ontology:HP:0002652,Human Phenotype Ontology:HP:0005685,MedGen:C0410528|MONDO:MONDO:0007738,MedGen:C1837657,OMIM:143095, Orphanet:263463|MONDO:MONDO:0007875,MedGen:C0175778,OMIM:150250, Orphanet:503|MONDO:MONDO:0008471,MedGen:C2745959,OMIM107377180073771800TC10:g.73771800T>CClinGen:CA10632134C0175778 Larsen syndrome;
NM_004273.5(CHST3):c.*3666G>A9469CHST3Likely benignrs113342172RCV000297009|RCV000361216|RCV000394256|RCV000394205; NMONDO:MONDO:0008471,MedGen:C2745959,OMIM:183900, Orphanet:94068|MONDO:MONDO:0007875,MedGen:C0175778,OMIM:150250, Orphanet:503|MONDO:MONDO:0007738,MedGen:C1837657,OMIM:143095, Orphanet:263463|Human Phenotype Ontology:HP:0002652,Human Phenotype Ontology:HP:0107377189573771895GANC_000010.10:g.73771895G>AClinGen:CA10632135C0175778 Larsen syndrome;
NM_004273.5(CHST3):c.*3701AG[1]9469CHST3Likely benignrs200054447RCV000272396|RCV000302743|RCV000327400|RCV000357570; NMONDO:MONDO:0007875,MedGen:C0175778,OMIM:150250, Orphanet:503|Human Phenotype Ontology:HP:0002652,Human Phenotype Ontology:HP:0005685,MedGen:C0410528|MONDO:MONDO:0007738,MedGen:C1837657,OMIM:143095, Orphanet:263463|MONDO:MONDO:0008471,MedGen:C2745959,OMIM107377193073771931CAGCNC_000010.10:g.73771930AG[1]ClinGen:CA10636216C0175778 Larsen syndrome;
NM_004273.5(CHST3):c.*3905C>T9469CHST3Uncertain significancers886047181RCV000275932|RCV000306441|RCV000312340|RCV000370401; NMONDO:MONDO:0007738,MedGen:C1837657,OMIM:143095, Orphanet:263463|MONDO:MONDO:0008471,MedGen:C2745959,OMIM:183900, Orphanet:94068|MONDO:MONDO:0007875,MedGen:C0175778,OMIM:150250, Orphanet:503|Human Phenotype Ontology:HP:0002652,Human Phenotype Ontology:HP:0107377213473772134CTNC_000010.10:g.73772134C>TClinGen:CA10628963C0175778 Larsen syndrome;
NM_004273.5(CHST3):c.*3932G>T9469CHST3Benignrs1871451RCV000262991|RCV000318114|RCV000366735|RCV000372726; NHuman Phenotype Ontology:HP:0002652,Human Phenotype Ontology:HP:0005685,MedGen:C0410528|MONDO:MONDO:0008471,MedGen:C2745959,OMIM:183900, Orphanet:94068|MONDO:MONDO:0007875,MedGen:C0175778,OMIM:150250, Orphanet:503|MONDO:MONDO:0007738,MedGen:C1837657,OMIM:107377216173772161GTNC_000010.10:g.73772161G>TClinGen:CA10636219C0175778 Larsen syndrome;
NM_004273.5(CHST3):c.*3987G>A9469CHST3Benignrs56218110RCV000284264|RCV000324205|RCV000378638|RCV000259585; NMONDO:MONDO:0007738,MedGen:C1837657,OMIM:143095, Orphanet:263463|MONDO:MONDO:0007875,MedGen:C0175778,OMIM:150250, Orphanet:503|MONDO:MONDO:0008471,MedGen:C2745959,OMIM:183900, Orphanet:94068|Human Phenotype Ontology:HP:0002652,Human Phenotype Ontology:HP:0107377221673772216GANC_000010.10:g.73772216G>AClinGen:CA10632151C0175778 Larsen syndrome;
NM_004273.5(CHST3):c.*4095A>G9469CHST3Likely benignrs114800040RCV000313744|RCV000349883|RCV000390824|RCV000395543; NMONDO:MONDO:0007875,MedGen:C0175778,OMIM:150250, Orphanet:503|Human Phenotype Ontology:HP:0002652,Human Phenotype Ontology:HP:0005685,MedGen:C0410528|MONDO:MONDO:0007738,MedGen:C1837657,OMIM:143095, Orphanet:263463|MONDO:MONDO:0008471,MedGen:C2745959,OMIM107377232473772324AGNC_000010.10:g.73772324A>GClinGen:CA10632154C0175778 Larsen syndrome;
NM_004273.5(CHST3):c.*4162A>G9469CHST3Uncertain significancers551591119RCV000266500|RCV000321642|RCV000361117|RCV000376331; NMONDO:MONDO:0007875,MedGen:C0175778,OMIM:150250, Orphanet:503|MONDO:MONDO:0008471,MedGen:C2745959,OMIM:183900, Orphanet:94068|Human Phenotype Ontology:HP:0002652,Human Phenotype Ontology:HP:0005685,MedGen:C0410528|MONDO:MONDO:0007738,MedGen:C1837657,OMIM:107377239173772391AGNC_000010.10:g.73772391A>GClinGen:CA10632155C0175778 Larsen syndrome;
NM_004273.5(CHST3):c.*4210T>C9469CHST3Uncertain significancers559945769RCV000272458|RCV000287614|RCV000327500|RCV000382029; NMONDO:MONDO:0007875,MedGen:C0175778,OMIM:150250, Orphanet:503|Human Phenotype Ontology:HP:0002652,Human Phenotype Ontology:HP:0005685,MedGen:C0410528|MONDO:MONDO:0007738,MedGen:C1837657,OMIM:143095, Orphanet:263463|MONDO:MONDO:0008471,MedGen:C2745959,OMIM107377243973772439TCNC_000010.10:g.73772439T>CClinGen:CA10632158C0175778 Larsen syndrome;
NM_004273.5(CHST3):c.*4409C>T9469CHST3Uncertain significancers754282055RCV000306223|RCV000302636|RCV000360925|RCV000394161; NHuman Phenotype Ontology:HP:0002652,Human Phenotype Ontology:HP:0005685,MedGen:C0410528|MONDO:MONDO:0007875,MedGen:C0175778,OMIM:150250, Orphanet:503|MONDO:MONDO:0008471,MedGen:C2745959,OMIM:183900, Orphanet:94068|MONDO:MONDO:0007738,MedGen:C1837657,OMIM:107377263873772638CTNC_000010.10:g.73772638C>TClinGen:CA10635838C0175778 Larsen syndrome;
NM_004273.5(CHST3):c.*4421G>C9469CHST3Benignrs730722RCV000271907|RCV000327039|RCV000363073|RCV000366549; NMONDO:MONDO:0007875,MedGen:C0175778,OMIM:150250, Orphanet:503|Human Phenotype Ontology:HP:0002652,Human Phenotype Ontology:HP:0005685,MedGen:C0410528|MONDO:MONDO:0008471,MedGen:C2745959,OMIM:183900, Orphanet:94068|MONDO:MONDO:0007738,MedGen:C1837657,OMIM:107377265073772650GCNC_000010.10:g.73772650G>CClinGen:CA10635839C0175778 Larsen syndrome;
NM_004273.5(CHST3):c.*4432T>A9469CHST3Benignrs1871452RCV000275845|RCV000281562|RCV000330976|RCV000385513; NHuman Phenotype Ontology:HP:0002652,Human Phenotype Ontology:HP:0005685,MedGen:C0410528|MONDO:MONDO:0007875,MedGen:C0175778,OMIM:150250, Orphanet:503|MONDO:MONDO:0007738,MedGen:C1837657,OMIM:143095, Orphanet:263463|MONDO:MONDO:0008471,MedGen:C2745959,OMIM107377266173772661TANC_000010.10:g.73772661T>AClinGen:CA10636221C0175778 Larsen syndrome;
NM_004273.5(CHST3):c.*4498A>G9469CHST3Uncertain significancers552578786RCV000309011|RCV000313855|RCV000363736|RCV000397833; NMONDO:MONDO:0007875,MedGen:C0175778,OMIM:150250, Orphanet:503|MONDO:MONDO:0008471,MedGen:C2745959,OMIM:183900, Orphanet:94068|MONDO:MONDO:0007738,MedGen:C1837657,OMIM:143095, Orphanet:263463|Human Phenotype Ontology:HP:0002652,Human Phenotype Ontology:HP:0107377272773772727AGNC_000010.10:g.73772727A>GClinGen:CA10636222C0175778 Larsen syndrome;
NM_004273.5(CHST3):c.*4533C>T9469CHST3Benignrs730720RCV000273915|RCV000331224|RCV000355694|RCV000370815; NMONDO:MONDO:0007875,MedGen:C0175778,OMIM:150250, Orphanet:503|Human Phenotype Ontology:HP:0002652,Human Phenotype Ontology:HP:0005685,MedGen:C0410528|MONDO:MONDO:0008471,MedGen:C2745959,OMIM:183900, Orphanet:94068|MONDO:MONDO:0007738,MedGen:C1837657,OMIM:107377276273772762CTNC_000010.10:g.73772762C>TClinGen:CA10636223C0175778 Larsen syndrome;
NM_004273.5(CHST3):c.*4609G>A9469CHST3Uncertain significancers552018988RCV000283944|RCV000323931|RCV000345904|RCV000376236; NMONDO:MONDO:0008471,MedGen:C2745959,OMIM:183900, Orphanet:94068|MONDO:MONDO:0007738,MedGen:C1837657,OMIM:143095, Orphanet:263463|MONDO:MONDO:0007875,MedGen:C0175778,OMIM:150250, Orphanet:503|Human Phenotype Ontology:HP:0002652,Human Phenotype Ontology:HP:0107377283873772838GANC_000010.10:g.73772838G>AClinGen:CA10632164C0175778 Larsen syndrome;
NM_004273.5(CHST3):c.*4628A>C9469CHST3Uncertain significancers886047182RCV000287698|RCV000344900|RCV000384401|RCV000401900; NMONDO:MONDO:0007738,MedGen:C1837657,OMIM:143095, Orphanet:263463|Human Phenotype Ontology:HP:0002652,Human Phenotype Ontology:HP:0005685,MedGen:C0410528|MONDO:MONDO:0007875,MedGen:C0175778,OMIM:150250, Orphanet:503|MONDO:MONDO:0008471,MedGen:C2745959,OMIM107377285773772857AC10:g.73772857A>CClinGen:CA10632165C0175778 Larsen syndrome;
NM_004273.5(CHST3):c.*4770G>A9469CHST3Likely benignrs4148953RCV000301381|RCV000311816|RCV000350295|RCV000402555; NMONDO:MONDO:0007875,MedGen:C0175778,OMIM:150250, Orphanet:503|MONDO:MONDO:0008471,MedGen:C2745959,OMIM:183900, Orphanet:94068|Human Phenotype Ontology:HP:0002652,Human Phenotype Ontology:HP:0005685,MedGen:C0410528|MONDO:MONDO:0007738,MedGen:C1837657,OMIM:107377299973772999GA10:g.73772999G>AClinGen:CA10636225C0175778 Larsen syndrome;
NM_004273.5(CHST3):c.*4785G>A9469CHST3Benignrs12418RCV000261067|RCV000304537|RCV000353937|RCV000361562; NMONDO:MONDO:0007875,MedGen:C0175778,OMIM:150250, Orphanet:503|Human Phenotype Ontology:HP:0002652,Human Phenotype Ontology:HP:0005685,MedGen:C0410528|MONDO:MONDO:0007738,MedGen:C1837657,OMIM:143095, Orphanet:263463|MONDO:MONDO:0008471,MedGen:C2745959,OMIM107377301473773014GA10:g.73773014G>AClinGen:CA10628973C0175778 Larsen syndrome;
NM_004273.5(CHST3):c.*4820C>T9469CHST3Uncertain significancers886047183RCV000265056|RCV000273289|RCV000322572|RCV000384029; NMONDO:MONDO:0008471,MedGen:C2745959,OMIM:183900, Orphanet:94068|MONDO:MONDO:0007738,MedGen:C1837657,OMIM:143095, Orphanet:263463|MONDO:MONDO:0007875,MedGen:C0175778,OMIM:150250, Orphanet:503|Human Phenotype Ontology:HP:0002652,Human Phenotype Ontology:HP:0107377304973773049CT10:g.73773049C>TClinGen:CA10636229C0175778 Larsen syndrome;
NM_004273.5(CHST3):c.*4865C>T9469CHST3Uncertain significancers140500823RCV000293386|RCV000336645|RCV000385423|RCV000404109; NMONDO:MONDO:0007738,MedGen:C1837657,OMIM:143095, Orphanet:263463|MONDO:MONDO:0007875,MedGen:C0175778,OMIM:150250, Orphanet:503|MONDO:MONDO:0008471,MedGen:C2745959,OMIM:183900, Orphanet:94068|Human Phenotype Ontology:HP:0002652,Human Phenotype Ontology:HP:0107377309473773094CT10:g.73773094C>TClinGen:CA10632169C0175778 Larsen syndrome;
NM_004273.5(CHST3):c.*4869G>A9469CHST3Uncertain significancers773240688RCV000297063|RCV000305301|RCV000335706|RCV000403876; NMONDO:MONDO:0007875,MedGen:C0175778,OMIM:150250, Orphanet:503|MONDO:MONDO:0008471,MedGen:C2745959,OMIM:183900, Orphanet:94068|MONDO:MONDO:0007738,MedGen:C1837657,OMIM:143095, Orphanet:263463|Human Phenotype Ontology:HP:0002652,Human Phenotype Ontology:HP:0107377309873773098GA10:g.73773098G>AClinGen:CA10635844C0175778 Larsen syndrome;
NM_004273.5(CHST3):c.*4884C>G9469CHST3Uncertain significancers886047185RCV000265498|RCV000308948|RCV000357852|RCV000366013; NHuman Phenotype Ontology:HP:0002652,Human Phenotype Ontology:HP:0005685,MedGen:C0410528|MONDO:MONDO:0007875,MedGen:C0175778,OMIM:150250, Orphanet:503|MONDO:MONDO:0008471,MedGen:C2745959,OMIM:183900, Orphanet:94068|MONDO:MONDO:0007738,MedGen:C1837657,OMIM:107377311373773113CG10:g.73773113C>GClinGen:CA10628974C0175778 Larsen syndrome;
NM_001457.4(FLNB):c.199C>T (p.His67Tyr)2317FLNBUncertain significancers751371914RCV000714844|RCV000714843; NMONDO:MONDO:0007208,MedGen:C0432201,OMIM:112310, Orphanet:1263|MONDO:MONDO:0007875,MedGen:C0175778,OMIM:150250, Orphanet:50335799449057994490CTNC_000003.11:g.57994490C>T-
NM_001457.4(FLNB):c.482T>G (p.Phe161Cys)2317FLNBPathogenicrs80356506RCV000030660; NMONDO:MONDO:0007875,MedGen:C0175778,OMIM:150250, Orphanet:50335806296258062962TG3:g.58062962T>GClinGen:CA130016,UniProtKB:O75369#VAR_033069,OMIM:603381.0004C0175778 Larsen syndrome;
NM_001457.4(FLNB):c.501C>A (p.Asp167Glu)2317FLNBConflicting interpretations of pathogenicityrs746892435RCV001352899|RCV001871905; NMONDO:MONDO:0007875,MedGen:C0175778,OMIM:150250, Orphanet:503|MedGen:CN51720235806298158062981CA58062981-
NM_001457.4(FLNB):c.679G>A (p.Glu227Lys)2317FLNBPathogenicrs80356508RCV000030662|RCV001582470; NMONDO:MONDO:0007875,MedGen:C0175778,OMIM:150250, Orphanet:503|MedGen:CN51720235806739558067395GA3:g.58067395G>AClinGen:CA130018,UniProtKB:O75369#VAR_033075,OMIM:603381.0011C0175778 Larsen syndrome;
NM_001457.4(FLNB):c.700C>G (p.Leu234Val)2317FLNBPathogenicrs80356507RCV000020459; NMONDO:MONDO:0007875,MedGen:C0175778,OMIM:150250, Orphanet:50335806741658067416CG3:g.58067416C>GClinGen:CA341866,UniProtKB:O75369#VAR_033076C1835564 150250 Larsen syndrome, dominant type;
NM_001457.4(FLNB):c.1081G>A (p.Gly361Ser)2317FLNBPathogenicrs80356509RCV000020441; NMONDO:MONDO:0007875,MedGen:C0175778,OMIM:150250, Orphanet:50335808363858083638GA3:g.58083638G>AClinGen:CA341836,UniProtKB:O75369#VAR_033078C1835564 150250 Larsen syndrome, dominant type;
NM_001457.4(FLNB):c.1088G>A (p.Gly363Glu)2317FLNBPathogenicrs80356510RCV000020442; NMONDO:MONDO:0007875,MedGen:C0175778,OMIM:150250, Orphanet:50335808364558083645GA3:g.58083645G>AClinGen:CA341837,UniProtKB:O75369#VAR_033079C1835564 150250 Larsen syndrome, dominant type;
NM_001457.4(FLNB):c.1298C>A (p.Ala433Asp)2317FLNBUncertain significance-1RCV001771798; NMONDO:MONDO:0007875,MedGen:C0175778,OMIM:150250, Orphanet:50335808458858084588CA58084588-
NM_001457.4(FLNB):c.1346-2A>G2317FLNBUncertain significance-1RCV001839333; NMONDO:MONDO:0007875,MedGen:C0175778,OMIM:150250, Orphanet:50335808792858087928AG58087928-
NM_001457.4(FLNB):c.4292T>G (p.Leu1431Arg)2317FLNBLikely pathogenicrs80356511RCV000020444|RCV001379117; NMONDO:MONDO:0007875,MedGen:C0175778,OMIM:150250, Orphanet:503|MedGen:CN51720235811653758116537TG3:g.58116537T>GClinGen:CA341840,UniProtKB:O75369#VAR_033081C1835564 150250 Larsen syndrome, dominant type;
NM_001457.4(FLNB):c.4391G>C (p.Gly1464Ala)2317FLNBUncertain significancers886044175RCV000309759|RCV000764513|RCV001150331; NMedGen:CN517202|MONDO:MONDO:0010094,MedGen:C1848934,OMIM:272460, Orphanet:3275; MONDO:MONDO:0007168,MedGen:C3668942,OMIM:108721, Orphanet:56305; MONDO:MONDO:0007875,MedGen:C0175778,OMIM:150250, Orphanet:503; MONDO:MONDO:0007167,MedGen:C0265283,OMIM:108720,Orp35811853558118535GC3:g.58118535G>CClinGen:CA10606441CN169374 not specified;
NM_001457.4(FLNB):c.4625T>C (p.Ile1542Thr)2317FLNBConflicting interpretations of pathogenicityrs1356745912RCV000987282|RCV001561858; NMONDO:MONDO:0007875,MedGen:C0175778,OMIM:150250, Orphanet:503|MedGen:CN51720235812045358120453TC3:g.58120453T>C-
NM_001457.4(FLNB):c.4713_4715del (p.Asn1571del)2317FLNBPathogenicrs80356512RCV000020446; NMONDO:MONDO:0007875,MedGen:C0175778,OMIM:150250, Orphanet:50335812174558121747CAATC3:g.58121745_58121747delClinGen:CA341843C1835564 150250 Larsen syndrome, dominant type;
NM_001457.4(FLNB):c.4756G>A (p.Gly1586Arg)2317FLNBPathogenicrs80356513RCV000030661; NMONDO:MONDO:0007875,MedGen:C0175778,OMIM:150250, Orphanet:50335812179058121790GA3:g.58121790G>AUniProtKB:O75369#VAR_033083,OMIM:603381.0005,ClinGen:CA130017C0175778 Larsen syndrome;
NM_001457.4(FLNB):c.4775T>A (p.Val1592Asp)2317FLNBPathogenicrs80356514RCV000020448; NMONDO:MONDO:0007875,MedGen:C0175778,OMIM:150250, Orphanet:50335812180958121809TA3:g.58121809T>AClinGen:CA341847,UniProtKB:O75369#VAR_033084C1835564 150250 Larsen syndrome, dominant type;
NM_001457.4(FLNB):c.4808C>T (p.Pro1603Leu)2317FLNBPathogenicrs80356515RCV000020450; NMONDO:MONDO:0007875,MedGen:C0175778,OMIM:150250, Orphanet:50335812184258121842CT3:g.58121842C>TClinGen:CA341850,UniProtKB:O75369#VAR_033085C1835564 150250 Larsen syndrome, dominant type;
NM_001457.4(FLNB):c.4928C>T (p.Ala1643Val)2317FLNBPathogenicrs868820857RCV000856788; NMONDO:MONDO:0007875,MedGen:C0175778,OMIM:150250, Orphanet:50335812407558124075CT3:g.58124075C>T-
NM_001457.4(FLNB):c.4967A>T (p.Asp1656Val)2317FLNBUncertain significance-1RCV002077382; NMONDO:MONDO:0007875,MedGen:C0175778,OMIM:150250, Orphanet:50335812411458124114AT58124114-
NM_001457.4(FLNB):c.5059T>C (p.Tyr1687His)2317FLNBUncertain significance-1RCV001839128; NMONDO:MONDO:0007875,MedGen:C0175778,OMIM:150250, Orphanet:50335812420658124206TC58124206-
NM_001457.4(FLNB):c.5071G>A (p.Gly1691Ser)2317FLNBPathogenicrs80356503RCV000030663|RCV001064985; NMONDO:MONDO:0007875,MedGen:C0175778,OMIM:150250, Orphanet:503|MedGen:CN51720235812421858124218GA3:g.58124218G>AClinGen:CA130019,UniProtKB:O75369#VAR_033086,OMIM:603381.0012C0175778 Larsen syndrome;
NM_001457.4(FLNB):c.5072G>A (p.Gly1691Asp)2317FLNBPathogenic/Likely pathogenicrs1553704446RCV000625945|RCV001814201|RCV001860468; NMONDO:MONDO:0007875,MedGen:C0175778,OMIM:150250, Orphanet:503|Human Phenotype Ontology:HP:0000924,MedGen:C4021790|MedGen:CN51720235812421958124219GA3:g.58124219G>AClinGen:CA353353187C1835564 150250 Larsen syndrome, dominant type;
NM_001457.4(FLNB):c.5500G>A (p.Gly1834Arg)2317FLNBPathogenicrs80356516RCV000020455; NMONDO:MONDO:0007875,MedGen:C0175778,OMIM:150250, Orphanet:50335813172258131722GA3:g.58131722G>AUniProtKB:O75369#VAR_033087,ClinGen:CA341859C1835564 150250 Larsen syndrome, dominant type;
NM_001457.4(FLNB):c.6956T>C (p.Ile2319Thr)2317FLNBBenign/Likely benignrs116826041RCV000249436|RCV000376595|RCV000971871|RCV000987283; NMedGen:CN169374|MedGen:CN239400|MedGen:CN517202|MONDO:MONDO:0007875,MedGen:C0175778,OMIM:150250, Orphanet:50335814534858145348TC3:g.58145348T>CClinGen:CA2469544CN239400 FLNB-Related Spectrum Disorders;
NM_001457.4(FLNB):c.7723G>A (p.Val2575Ile)2317FLNBUncertain significancers369949841RCV001267840; NMONDO:MONDO:0007168,MedGen:C3668942,OMIM:108721, Orphanet:56305; MONDO:MONDO:0007875,MedGen:C0175778,OMIM:150250, Orphanet:50335815640358156403GA3:g.58156403G>A-
MSeqDR Portal