MSeqDR Mitochondrial Disease Portal


 
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Craniofacial Abnormalities (D019465)
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Ectromelia (D004480)
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Hypertelorism (D006972)
..Starting node
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Roberts Syndrome (C535687)

       Child Nodes:



 Sister Nodes: 
..expandAcrootoocular Syndrome (C564866)
..expandAtrial Septal Defect, Secundum, with Various Cardiac and Noncardiac Defects (C566351)
..expandAxenfeld-Rieger Anomaly with Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, and Skeletal Abnormalities (C566234)
..expandBagatelle Cassidy syndrome (C537796)
..expandBarber Say syndrome (C537908)
..expandCamptodactyly Syndrome, Guadalajara, Type II (C567138)
..expandCamptodactyly Syndrome, Guadalajara, Type III (C567455)
..expandChromosome 6pter-P24 Deletion Syndrome (C567239)
..expandDe Hauwere Leroy Adriaenssens syndrome (C535991)
..expandFacial Abnormalities, Kyphoscoliosis, and Mental Retardation (C565580)
..expandGastrocutaneous syndrome (C535651)
..expandHirschsprung Disease with Polydactyly, Renal Agenesis, and Deafness (C565518)
..expandHypertelorism and tetralogy of Fallot (C538386)
..expandHypertelorism with esophageal abnormality and hypospadias (C538387)
..expandHYPERTELORISM, PREAURICULAR SINUS, PUNCTAL PITS, AND DEAFNESS (OMIM:614187)
..expandHypertelorism, Severe, With Midface Prominence, Myopia, Mental Retardation, And Bone Fragility (C566988)
..expandHypospadias, Hypertelorism, Upper Lid Coloboma, and Mixed-Type Hearing Loss (C566373)
..expandKrauss Herman Holmes syndrome (C537618)
..expandMarles Greenberg Persaud syndrome (C536022)
..expandNaguib-Richieri-Costa syndrome (C538332)
..expandOpitz GBBB Syndrome, X-Linked (C567932)
..expandPolycystic Kidney Disease, Potter Type I, with Microbrachycephaly, Hypertelorism, and Brachymelia (C564881)
..expandRoberts Syndrome (C535687)
..expandSantos Mateus Leal syndrome (C537235)
..expandSchwartz-Lelek syndrome (C537519)
..expandSeaver Cassidy syndrome (C537529)
..expandToe Syndactyly, Telecanthus, and Anogenital and Renal Malformations (C567475)
   

Human Disease MESH is developed by UMLS.
Further data from MedGen, OMIM,ClinVar, CTD
Term ID:10877
Name:Roberts Syndrome
Definition:
Alternative IDs:DO:DOID:5325|OMIM:268300|OMIM:269000
ParentIDs:MESH:D004480|MESH:D006972|MESH:D019465
TreeNumbers:C05.116.099.370.231.480/C535687 |C05.660.207.231.480/C535687 |C05.660.207/C535687 |C05.660.585.350/C535687 |C16.131.621.207.231.480/C535687 |C16.131.621.207/C535687 |C16.131.621.585.350/C535687
Synonyms:Appelt-Gerken-Lenz Syndrome |Hypomelia Hypotrichosis Facial Hemangioma Syndrome |Long bone deficiencies associated with cleft lip-palate |Pseudothalidomide Syndrome |RBS |Roberts-Sc Phocomelia Syndrome |Sc Phocomelia Syndrome |Sc Pseudothalidomide Syndrome |Sc S
Slim Mappings:Congenital abnormality|Musculoskeletal disease
Reference: MedGen: C535687
MeSH: C535687
OMIM: 268300;
MSeqDR LSDB:  
Genes: ESCO2;
Phenotypes
1 HP:0000007Autosomal recessive inheritance
2 HP:0001163Abnormality of the metacarpal bones
3 HP:0000387Absent earlobe
4 HP:0001747Accessory spleen
5 HP:0006466Ankle contracture
6 HP:0001631Atrial septal defect
7 HP:0000813Bicornuate uterus
8 HP:0001080Biliary tract abnormality
9 HP:0000592Blue sclerae
10 HP:0000248Brachycephaly
11 HP:0001156Brachydactyly
12 HP:0000957Cafe-au-lait spot
13 HP:0000518Cataract
NAMDC:  Cataracts
14 HP:0000175Cleft palate
15 HP:0000204Cleft upper lip
16 HP:0030084Clinodactyly
17 HP:0008665Clitoral hypertrophy
18 HP:0006824Cranial nerve paralysis
19 HP:0001363Craniosynostosis
20 HP:0000028Cryptorchidism
21 HP:0000476Cystic hygroma
22 HP:0000494Downslanted palpebral fissures
23 HP:0002987Elbow flexion contracture
24 HP:0008683Enlarged labia minora
25 HP:0000625Eyelid coloboma
26 HP:0007330Frontal encephalocele
27 HP:0001180Hand oligodactyly
28 HP:0000218High palate
29 HP:0000085Horseshoe kidney
30 HP:0000238Hydrocephalus
31 HP:0000316Hypertelorism
32 HP:0000047Hypospadias
33 HP:0001249Intellectual disability
34 HP:0006380Knee flexion contracture
35 HP:0000040Long penis
36 HP:0000369Low-set ears
37 HP:0000272Malar flattening
38 HP:0000252Microcephaly
39 HP:0000347Micrognathia
40 HP:0000568Microphthalmia
41 HP:0007452Midface capillary hemangioma
42 HP:0009933Narrow naris
43 HP:0007759Opacification of the corneal stroma
44 HP:0001643Patent ductus arteriosus
45 HP:0000113Polycystic kidney dysplasia
46 HP:0001561Polyhydramnios
47 HP:0000358Posteriorly rotated ears
48 HP:0008897Postnatal growth retardation
49 HP:0003616Premature separation of centromeric heterochromatin
50 HP:0000520Proptosis
51 HP:0009466Radial deviation of finger
52 HP:0008846Severe intrauterine growth retardation
53 HP:0000586Shallow orbits
54 HP:0000470Short neck
55 HP:0008070Sparse hair
56 HP:0003826StillbirthHP:0040283
57 HP:0001159Syndactyly
58 HP:0001772Talipes equinovalgus
59 HP:0030721Tetraphocomelia
60 HP:0000430Underdeveloped nasal alae
61 HP:0001629Ventricular septal defect
62 HP:0000431Wide nasal bridge
63 HP:0001239Wrist flexion contracture
Disease Causing ClinVar Variants
Variation_NameGeneIDGeneSymbolClinicalSignificancedbSNPRCVaccessionTestedInGTRPhenotypeIDsChromosomeStartStopHGVS_cHGVS_pHGVS_gOtherIDsDisease_ClinVar
NM_001017420.3(ESCO2):c.-68T>G157570ESCO2Benignrs111510470RCV000276673; NMedGen:C0392475,OMIM:268300,OMIM:269000, Orphanet:310382763207327632073TG8:g.27632073T>GClinGen:CA10625292
NM_001017420.3(ESCO2):c.-44G>A157570ESCO2Uncertain significancers886062855RCV000315294; NMedGen:C0392475,OMIM:268300,OMIM:269000, Orphanet:310382763209727632097GA8:g.27632097G>AClinGen:CA10625294
NM_001017420.3(ESCO2):c.-38C>G157570ESCO2Uncertain significancers541613867RCV000367673; NMedGen:C0392475,OMIM:268300,OMIM:269000, Orphanet:310382763210327632103CG8:g.27632103C>GClinGen:CA10630803
NM_001017420.3(ESCO2):c.-33C>T157570ESCO2Uncertain significancers886062856RCV000275561; NMedGen:C0392475,OMIM:268300,OMIM:269000, Orphanet:310382763210827632108CT8:g.27632108C>TClinGen:CA10630856
NM_001017420.3(ESCO2):c.-17+15A>T157570ESCO2Uncertain significancers886062857RCV000318974; NMedGen:C0392475,OMIM:268300,OMIM:269000, Orphanet:310382763213927632139AT8:g.27632139A>TClinGen:CA10625298
NM_001017420.3(ESCO2):c.53+8T>G157570ESCO2Uncertain significance-1RCV001164976; NMedGen:C0392475,OMIM:268300,OMIM:269000, Orphanet:310382763309227633092TG8:g.27633092T>G-
NM_001017420.3(ESCO2):c.116dup (p.Asn39fs)157570ESCO2Likely pathogenicrs1585389705RCV000985059; NMedGen:C0392475,OMIM:268300,OMIM:269000, Orphanet:310382763393727633938CCA8:g.27633937_27633938insA-
NM_001017420.3(ESCO2):c.147C>G (p.Cys49Trp)157570ESCO2Benign/Likely benignrs201989984RCV000177101|RCV000376034|RCV000902739; NMedGen:CN169374|MedGen:C0392475,OMIM:268300,OMIM:269000, Orphanet:3103|MedGen:CN51720282763397227633972CG8:g.27633972C>GClinGen:CA202264CN169374 not specified;
NM_001017420.3(ESCO2):c.239C>T (p.Ala80Val)157570ESCO2Benignrs4732748RCV000020402|RCV000145966; NMedGen:C0392475,OMIM:268300,OMIM:269000, Orphanet:3103|MedGen:CN16937482763406427634064CT8:g.27634064C>TClinGen:CA172159,UniProtKB:Q56NI9#VAR_033840CN169374 not specified;
NM_001017420.3(ESCO2):c.252_253del (p.Ser85fs)157570ESCO2Pathogenicrs80359844RCV000020403; NMedGen:C0392475,OMIM:268300,OMIM:269000, Orphanet:310382763407627634077GTAG8:g.27634076_27634077delClinGen:CA341787C0392475 268300 Roberts-SC phocomelia syndrome;
NM_001017420.3(ESCO2):c.292_293GA[1] (p.Arg99fs)157570ESCO2Pathogenicrs80359845RCV000020404|RCV001054606; NMedGen:C0392475,OMIM:268300,OMIM:269000, Orphanet:3103|MedGen:CN51720282763411727634120GGAGAG8:g.27634117_27634120delClinGen:CA341788C0392475 268300 Roberts-SC phocomelia syndrome;
NM_001017420.3(ESCO2):c.304A>G (p.Ile102Val)157570ESCO2Uncertain significancers201354290RCV000371273|RCV001164977; NMedGen:CN517202|MedGen:C0392475,OMIM:268300,OMIM:269000, Orphanet:310382763412927634129AG8:g.27634129A>GClinGen:CA4692030CN169374 not specified;
NM_001017420.3(ESCO2):c.307_311del (p.Lys103fs)157570ESCO2Pathogenicrs80359846RCV000020405|RCV001211947; NMedGen:C0392475,OMIM:268300,OMIM:269000, Orphanet:3103|MedGen:CN51720282763413127634135TAAAAGT8:g.27634131_27634135delClinGen:CA341789C0392475 268300 Roberts-SC phocomelia syndrome;
NM_001017420.3(ESCO2):c.308_309del (p.Lys103fs)157570ESCO2Pathogenicrs80359847RCV000020406|RCV001224013; NMedGen:C0392475,OMIM:268300,OMIM:269000, Orphanet:3103|MedGen:CN51720282763413127634132TAAT8:g.27634131_27634132delClinGen:CA341790C0392475 268300 Roberts-SC phocomelia syndrome;
NM_001017420.3(ESCO2):c.317G>A (p.Arg106Lys)157570ESCO2Uncertain significancers199638838RCV000317353; NMedGen:C0392475,OMIM:268300,OMIM:269000, Orphanet:310382763414227634142GA8:g.27634142G>AClinGen:CA4692031
NM_001017420.3(ESCO2):c.325T>C (p.Cys109Arg)157570ESCO2Conflicting interpretations of pathogenicityrs199653554RCV000378999|RCV000978220; NMedGen:C0392475,OMIM:268300,OMIM:269000, Orphanet:3103|MedGen:CN51720282763415027634150TC8:g.27634150T>CClinGen:CA4692033
NM_001017420.3(ESCO2):c.383G>A (p.Gly128Glu)157570ESCO2Uncertain significancers557813179RCV000145967; NMedGen:C0392475,OMIM:268300,OMIM:269000, Orphanet:310382763420827634208GA8:g.27634208G>AClinGen:CA271502
NM_001017420.3(ESCO2):c.402G>A (p.Lys134=)157570ESCO2Uncertain significance-1RCV001279451; NMedGen:C0392475,OMIM:268300,OMIM:269000, Orphanet:310382763422727634227GA8:g.27634227G>A-
NM_001017420.3(ESCO2):c.417dup (p.Pro140fs)157570ESCO2Pathogenicrs80359848RCV000020407; NMedGen:C0392475,OMIM:268300,OMIM:269000, Orphanet:310382763423627634237CCA8:g.27634236_27634237insAClinGen:CA341791C0392475 268300 Roberts-SC phocomelia syndrome;
NM_001017420.3(ESCO2):c.423G>C (p.Gln141His)157570ESCO2Benign-1RCV001279452; NMedGen:C0392475,OMIM:268300,OMIM:269000, Orphanet:310382763424827634248GC8:g.27634248G>C-
NM_001017420.3(ESCO2):c.447A>G (p.Gln149=)157570ESCO2Uncertain significancers886062858RCV000287299; NMedGen:C0392475,OMIM:268300,OMIM:269000, Orphanet:310382763427227634272AG8:g.27634272A>GClinGen:CA10630867
NM_001017420.3(ESCO2):c.505C>T (p.Arg169Ter)157570ESCO2Pathogenicrs80359849RCV000001806; NMedGen:C0392475,OMIM:268300,OMIM:269000, Orphanet:310382763433027634330CT8:g.27634330C>TClinGen:CA339904,OMIM:609353.0002C0392475 268300 Roberts-SC phocomelia syndrome;
NM_001017420.3(ESCO2):c.510G>A (p.Val170=)157570ESCO2Benignrs112031297RCV000248661|RCV000339945|RCV000970997; NMedGen:CN169374|MedGen:C0392475,OMIM:268300,OMIM:269000, Orphanet:3103|MedGen:CN51720282763433527634335GA8:g.27634335G>AClinGen:CA4692065
NM_001017420.3(ESCO2):c.577C>T (p.Arg193Trp)157570ESCO2Uncertain significancers143539004RCV000292221|RCV001164978; NMedGen:CN517202|MedGen:C0392475,OMIM:268300,OMIM:269000, Orphanet:310382763440227634402CT8:g.27634402C>TClinGen:CA4692074CN169374 not specified;
NM_001017420.3(ESCO2):c.578G>A (p.Arg193Gln)157570ESCO2Uncertain significancers754433579RCV000378236; NMedGen:C0392475,OMIM:268300,OMIM:269000, Orphanet:310382763440327634403GA8:g.27634403G>AClinGen:CA10625299
NM_001017420.3(ESCO2):c.604C>T (p.Gln202Ter)157570ESCO2Pathogenicrs80359850RCV000001810; NMedGen:C0392475,OMIM:268300,OMIM:269000, Orphanet:310382763442927634429CT8:g.27634429C>TClinGen:CA339910,OMIM:609353.0006C0392475 268300 Roberts-SC phocomelia syndrome;
NM_001017420.3(ESCO2):c.648A>G (p.Lys216=)157570ESCO2Uncertain significancers587783624RCV000145968; NMedGen:C0392475,OMIM:268300,OMIM:269000, Orphanet:310382763447327634473AG8:g.27634473A>GClinGen:CA271504
NM_001017420.3(ESCO2):c.662A>T (p.Lys221Ile)157570ESCO2Uncertain significance-1RCV001160064; NMedGen:C0392475,OMIM:268300,OMIM:269000, Orphanet:310382763448727634487AT8:g.27634487A>T-
NM_001017420.3(ESCO2):c.697A>G (p.Thr233Ala)157570ESCO2Uncertain significance-1RCV001160065; NMedGen:C0392475,OMIM:268300,OMIM:269000, Orphanet:310382763452227634522AG8:g.27634522A>G-
NM_001017420.3(ESCO2):c.742A>G (p.Thr248Ala)157570ESCO2Conflicting interpretations of pathogenicityrs750159862RCV000941633|RCV001160066; NMedGen:CN517202|MedGen:C0392475,OMIM:268300,OMIM:269000, Orphanet:310382763456727634567AG8:g.27634567A>G-
NM_001017420.3(ESCO2):c.745_746del (p.Val249fs)157570ESCO2Pathogenicrs80359851RCV000020408; NMedGen:C0392475,OMIM:268300,OMIM:269000, Orphanet:310382763456927634570CTGC8:g.27634569_27634570delClinGen:CA341792C0392475 268300 Roberts-SC phocomelia syndrome;
NM_001017420.3(ESCO2):c.751dup (p.Glu251fs)157570ESCO2Pathogenicrs1554554098RCV000001807; NMedGen:C0392475,OMIM:268300,OMIM:269000, Orphanet:310382763457527634576TTG8:g.27634575_27634576insGClinGen:CA339906,OMIM:609353.0003C0392475 268300 Roberts-SC phocomelia syndrome;
NM_001017420.3(ESCO2):c.760dup (p.Thr254fs)157570ESCO2Pathogenicrs80359852RCV000001808|RCV001205585; NMedGen:C0392475,OMIM:268300,OMIM:269000, Orphanet:3103|MedGen:CN51720282763457627634577GGA8:g.27634576_27634577insAClinGen:CA339907,OMIM:609353.0004C0392475 268300 Roberts-SC phocomelia syndrome;
NM_001017420.3(ESCO2):c.760del (p.Thr254fs)157570ESCO2Pathogenicrs80359852RCV000020409|RCV000593748; NMedGen:C0392475,OMIM:268300,OMIM:269000, Orphanet:3103|MedGen:CN51720282763457727634577GAG8:g.27634577_27634577delClinGen:CA341793,OMIM:609353.0007CN517202 not provided;
NM_001017420.3(ESCO2):c.761C>T (p.Thr254Ile)157570ESCO2Likely benign-1RCV001279453; NMedGen:C0392475,OMIM:268300,OMIM:269000, Orphanet:310382763458627634586CT8:g.27634586C>T-
NM_001017420.3(ESCO2):c.764_765del (p.Phe255fs)157570ESCO2Pathogenicrs80359855RCV000020411; NMedGen:C0392475,OMIM:268300,OMIM:269000, Orphanet:310382763458727634588CTTC8:g.27634587_27634588delClinGen:CA341794C0392475 268300 Roberts-SC phocomelia syndrome;
NM_001017420.3(ESCO2):c.764T>C (p.Phe255Ser)157570ESCO2Benign/Likely benignrs141631911RCV000177103|RCV000224021|RCV000290777; NMedGen:CN169374|MedGen:CN517202|MedGen:C0392475,OMIM:268300,OMIM:269000, Orphanet:310382763458927634589TC8:g.27634589T>CClinGen:CA202266CN517202 not provided;
NM_001017420.3(ESCO2):c.820C>G (p.Leu274Val)157570ESCO2Benignrs111667783RCV000972773|RCV001275352; NMedGen:CN517202|MedGen:C0392475,OMIM:268300,OMIM:269000, Orphanet:310382763464527634645CG8:g.27634645C>G-
NM_001017420.3(ESCO2):c.835A>G (p.Ser279Gly)157570ESCO2Uncertain significancers886062859RCV000347986; NMedGen:C0392475,OMIM:268300,OMIM:269000, Orphanet:310382763466027634660AG8:g.27634660A>GClinGen:CA10625300
NM_001017420.3(ESCO2):c.867A>G (p.Ser289=)157570ESCO2Benign/Likely benignrs535236969RCV000933102|RCV001160067; NMedGen:CN517202|MedGen:C0392475,OMIM:268300,OMIM:269000, Orphanet:310382763769627637696AG8:g.27637696A>G-
NM_001017420.3(ESCO2):c.876_879del (p.Asp292fs)157570ESCO2Pathogenicrs80359856RCV000020412; NMedGen:C0392475,OMIM:268300,OMIM:269000, Orphanet:310382763770327637706TGACAT8:g.27637703_27637706delClinGen:CA341795C0392475 268300 Roberts-SC phocomelia syndrome;
NM_001017420.3(ESCO2):c.877_878AG[1] (p.Arg293fs)157570ESCO2Pathogenicrs80359857RCV000020413|RCV001208578; NMedGen:C0392475,OMIM:268300,OMIM:269000, Orphanet:3103|MedGen:CN51720282763770627637707CAGC8:g.27637706_27637707delClinGen:CA341796C0392475 268300 Roberts-SC phocomelia syndrome;
NM_001017420.3(ESCO2):c.894delinsTTTTAT (p.Glu298fs)157570ESCO2Pathogenicrs797045565RCV000193201; NMedGen:C0392475,OMIM:268300,OMIM:269000, Orphanet:310382763772327637723ATTTTAT8:g.27637723_27637724insTTTATClinGen:CA277097
NM_001017420.3(ESCO2):c.911dup (p.Asn304fs)157570ESCO2Pathogenicrs797045566RCV000194407; NMedGen:C0392475,OMIM:268300,OMIM:269000, Orphanet:310382763773527637736TTA8:g.27637735_27637736insAClinGen:CA277315
NM_001017420.3(ESCO2):c.907A>C (p.Lys303Gln)157570ESCO2Likely benign-1RCV001279454; NMedGen:C0392475,OMIM:268300,OMIM:269000, Orphanet:310382763773627637736AC8:g.27637736A>C-
NM_001017420.3(ESCO2):c.915G>A (p.Glu305=)157570ESCO2Uncertain significancers184200865RCV000395966; NMedGen:C0392475,OMIM:268300,OMIM:269000, Orphanet:310382763774427637744GA8:g.27637744G>AClinGen:CA4692153
NM_001017420.3(ESCO2):c.929A>T (p.Glu310Val)157570ESCO2Uncertain significancers145734811RCV000728609|RCV001161479; NMedGen:CN517202|MedGen:C0392475,OMIM:268300,OMIM:269000, Orphanet:310382763775827637758AT8:g.27637758A>T-
NM_001017420.3(ESCO2):c.955+2_955+5del157570ESCO2Pathogenicrs80359858RCV000020414; NMedGen:C0392475,OMIM:268300,OMIM:269000, Orphanet:310382763778327637786CAAGTC8:g.27637783_27637786delClinGen:CA341797C0392475 268300 Roberts-SC phocomelia syndrome;
NM_001017420.3(ESCO2):c.955+7_955+8del157570ESCO2Likely benignrs555057427RCV000979543|RCV001273605; NMedGen:CN517202|MedGen:C0392475,OMIM:268300,OMIM:269000, Orphanet:310382763778827637789AAGA8:g.27637788_27637789del-
NM_001017420.3(ESCO2):c.955+10A>G157570ESCO2Conflicting interpretations of pathogenicityrs1421884058RCV000983329|RCV001161480; NMedGen:CN517202|MedGen:C0392475,OMIM:268300,OMIM:269000, Orphanet:310382763779427637794AG8:g.27637794A>G-
NM_001017420.3(ESCO2):c.956-2A>G157570ESCO2Likely pathogenicrs1207909659RCV000991389; NMedGen:C0392475,OMIM:268300,OMIM:269000, Orphanet:310382764151527641515AG8:g.27641515A>G-
NM_001017420.3(ESCO2):c.1004A>G (p.Asn335Ser)157570ESCO2Uncertain significance-1RCV001161481; NMedGen:C0392475,OMIM:268300,OMIM:269000, Orphanet:310382764156527641565AG8:g.27641565A>G-
NM_001017420.3(ESCO2):c.1013+7A>G157570ESCO2Conflicting interpretations of pathogenicityrs149494070RCV000307623|RCV000730627; NMedGen:C0392475,OMIM:268300,OMIM:269000, Orphanet:3103|MedGen:CN51720282764158127641581AG8:g.27641581A>GClinGen:CA4692185
NM_001017420.3(ESCO2):c.1031A>C (p.Gln344Pro)157570ESCO2Uncertain significancers143346057RCV000179357|RCV000350734; NMedGen:CN517202|MedGen:C0392475,OMIM:268300,OMIM:269000, Orphanet:310382764541927645419AC8:g.27645419A>CClinGen:CA246605CN169374 not specified;
NM_001017420.3(ESCO2):c.1044A>T (p.Gly348=)157570ESCO2Uncertain significancers587783623RCV000145964; NMedGen:C0392475,OMIM:268300,OMIM:269000, Orphanet:310382764543227645432AT8:g.27645432A>TClinGen:CA271498
NM_001017420.3(ESCO2):c.1076A>C (p.Gln359Pro)157570ESCO2Benign/Likely benignrs57479434RCV000390321|RCV000591384|RCV000973416; NMedGen:C0392475,OMIM:268300,OMIM:269000, Orphanet:3103|MedGen:CN169374|MedGen:CN51720282764546427645464AC8:g.27645464A>CClinGen:CA4692210,UniProtKB:Q56NI9#VAR_060994
NM_001017420.3(ESCO2):c.1094G>A (p.Arg365Lys)157570ESCO2Benign/Likely benignrs144288263RCV000395189|RCV000960042|RCV001161482; NMedGen:CN169374|MedGen:CN517202|MedGen:C0392475,OMIM:268300,OMIM:269000, Orphanet:310382764548227645482GA8:g.27645482G>AClinGen:CA4692212CN169374 not specified;
NM_001017420.3(ESCO2):c.1111dup (p.Thr371fs)157570ESCO2Pathogenic/Likely pathogenicrs80359859RCV000020394|RCV001229899; NMedGen:C0392475,OMIM:268300,OMIM:269000, Orphanet:3103|MedGen:CN51720282764549227645493TTA8:g.27645492_27645493insAClinGen:CA341779C0392475 268300 Roberts-SC phocomelia syndrome;
NM_001017420.3(ESCO2):c.1109_1111del (p.Lys370del)157570ESCO2Uncertain significancers80359859RCV000311161; NMedGen:C0392475,OMIM:268300,OMIM:269000, Orphanet:310382764549327645495TAAAT8:g.27645493_27645495delClinGen:CA10627590
NM_001017420.3(ESCO2):c.1105A>G (p.Lys369Glu)157570ESCO2Uncertain significancers202084183RCV000367918; NMedGen:C0392475,OMIM:268300,OMIM:269000, Orphanet:310382764549327645493AG8:g.27645493A>GClinGen:CA4692214
NM_001017420.3(ESCO2):c.1111_1112insG (p.Thr371fs)157570ESCO2Pathogenicrs1554555716RCV000020393; NMedGen:C0392475,OMIM:268300,OMIM:269000, Orphanet:310382764549927645500AAG8:g.27645499_27645500insGClinGen:CA341778C0392475 268300 Roberts-SC phocomelia syndrome;
NM_001017420.3(ESCO2):c.1128C>A (p.Ile376=)157570ESCO2Uncertain significance-1RCV001279455; NMedGen:C0392475,OMIM:268300,OMIM:269000, Orphanet:310382764551627645516CA8:g.27645516C>A-
NM_001017420.3(ESCO2):c.1131+1G>A157570ESCO2Pathogenicrs80359861RCV000020395|RCV001228633; NMedGen:C0392475,OMIM:268300,OMIM:269000, Orphanet:3103|MedGen:CN51720282764552027645520GA8:g.27645520G>AClinGen:CA341780C0392475 268300 Roberts-SC phocomelia syndrome;
NM_001017420.3(ESCO2):c.1132-7A>G157570ESCO2Pathogenic/Likely pathogenicrs80359862RCV000020396|RCV000519470; NMedGen:C0392475,OMIM:268300,OMIM:269000, Orphanet:3103|MedGen:CN51720282764635727646357AG8:g.27646357A>GClinGen:CA341781
NM_001017420.3(ESCO2):c.1175G>A (p.Cys392Tyr)157570ESCO2Conflicting interpretations of pathogenicityrs146312522RCV000145965|RCV000999013; NMedGen:C0392475,OMIM:268300,OMIM:269000, Orphanet:3103|MedGen:CN51720282764640727646407GA8:g.27646407G>AClinGen:CA271500
NM_001017420.3(ESCO2):c.1263+1G>C157570ESCO2Pathogenicrs80359863RCV000020397; NMedGen:C0392475,OMIM:268300,OMIM:269000, Orphanet:310382764649627646496GC8:g.27646496G>CClinGen:CA341782C0392475 268300 Roberts-SC phocomelia syndrome;
NM_001017420.3(ESCO2):c.1269G>A (p.Trp423Ter)157570ESCO2Pathogenicrs80359864RCV000001809; NMedGen:C0392475,OMIM:268300,OMIM:269000, Orphanet:310382764948527649485GA8:g.27649485G>AClinGen:CA339908,OMIM:609353.0005C0392475 268300 Roberts-SC phocomelia syndrome;
NM_001017420.3(ESCO2):c.1354-18G>A157570ESCO2Pathogenicrs80359865RCV000020398; NMedGen:C0392475,OMIM:268300,OMIM:269000, Orphanet:310382765016727650167GA8:g.27650167G>AClinGen:CA341783C0392475 268300 Roberts-SC phocomelia syndrome;
NM_001017420.3(ESCO2):c.1457_1458AG[2] (p.Arg487fs)157570ESCO2Pathogenicrs80359866RCV000020399; NMedGen:C0392475,OMIM:268300,OMIM:269000, Orphanet:310382765028827650289AAGA8:g.27650288_27650289delClinGen:CA341784C0392475 268300 Roberts-SC phocomelia syndrome;
NM_001017420.3(ESCO2):c.1493A>C (p.Lys498Thr)157570ESCO2Uncertain significancers143530690RCV000261772; NMedGen:C0392475,OMIM:268300,OMIM:269000, Orphanet:310382765032427650324AC8:g.27650324A>CClinGen:CA4692322
NM_001017420.3(ESCO2):c.1522A>G (p.Ile508Val)157570ESCO2Benignrs114956994RCV000300559|RCV000606464|RCV000880622; NMedGen:C0392475,OMIM:268300,OMIM:269000, Orphanet:3103|MedGen:CN169374|MedGen:CN51720282765708227657082AG8:g.27657082A>GClinGen:CA4692342
NM_001017420.3(ESCO2):c.1548G>A (p.Thr516=)157570ESCO2Benign/Likely benignrs149917909RCV000353052|RCV000960902; NMedGen:C0392475,OMIM:268300,OMIM:269000, Orphanet:3103|MedGen:CN51720282765710827657108GA8:g.27657108G>AClinGen:CA4692347
NM_001017420.3(ESCO2):c.1597dup (p.Cys533fs)157570ESCO2Pathogenicrs80359867RCV000020400; NMedGen:C0392475,OMIM:268300,OMIM:269000, Orphanet:310382765715627657157CCT8:g.27657156_27657157insTClinGen:CA341785C0392475 268300 Roberts-SC phocomelia syndrome;
NM_001017420.3(ESCO2):c.1615T>G (p.Trp539Gly)157570ESCO2Pathogenicrs80359868RCV000001805; NMedGen:C0392475,OMIM:268300,OMIM:269000, Orphanet:310382765717527657175TG8:g.27657175T>GClinGen:CA339903,UniProtKB:Q56NI9#VAR_022649,OMIM:609353.0001C0392475 268300 Roberts-SC phocomelia syndrome;
NM_001017420.3(ESCO2):c.1647T>C (p.Ile549=)157570ESCO2Benign/Likely benignrs73568217RCV000260726|RCV000596842|RCV000973417; NMedGen:C0392475,OMIM:268300,OMIM:269000, Orphanet:3103|MedGen:CN169374|MedGen:CN51720282765720727657207TC8:g.27657207T>CClinGen:CA4692363
NM_001017420.3(ESCO2):c.1674-2A>G157570ESCO2Pathogenicrs80359869RCV000020401; NMedGen:C0392475,OMIM:268300,OMIM:269000, Orphanet:310382766082127660821AG8:g.27660821A>GClinGen:CA341786C0392475 268300 Roberts-SC phocomelia syndrome;
NM_001017420.3(ESCO2):c.1735C>A (p.Pro579Thr)157570ESCO2Benignrs115144373RCV000322985|RCV000906000; NMedGen:C0392475,OMIM:268300,OMIM:269000, Orphanet:3103|MedGen:CN51720282766088427660884CA8:g.27660884C>AClinGen:CA4692388
NM_001017420.3(ESCO2):c.1747T>C (p.Leu583=)157570ESCO2Likely benignrs1585413228RCV000928740|RCV001275353; NMedGen:CN517202|MedGen:C0392475,OMIM:268300,OMIM:269000, Orphanet:310382766089627660896TC8:g.27660896T>C-
NM_001017420.3(ESCO2):c.*34G>A157570ESCO2Benignrs182715200RCV000361246; NMedGen:C0392475,OMIM:268300,OMIM:269000, Orphanet:310382766098927660989GA8:g.27660989G>AClinGen:CA4692404
NM_001017420.3(ESCO2):c.*50T>C157570ESCO2Uncertain significance-1RCV001163003; NMedGen:C0392475,OMIM:268300,OMIM:269000, Orphanet:310382766100527661005TC8:g.27661005T>C-
NM_001017420.3(ESCO2):c.*73_*76del157570ESCO2Uncertain significancers533417099RCV000264294; NMedGen:C0392475,OMIM:268300,OMIM:269000, Orphanet:310382766102627661029CTATTC8:g.27661026_27661029delClinGen:CA10625316
NM_001017420.3(ESCO2):c.*76_*79dup157570ESCO2Uncertain significancers139887923RCV000321886; NMedGen:C0392475,OMIM:268300,OMIM:269000, Orphanet:310382766103027661031TTAATA8:g.27661030_27661031insAATAClinGen:CA10627596
NM_001017420.3(ESCO2):c.*80del157570ESCO2Uncertain significancers886062863RCV000383426; NMedGen:C0392475,OMIM:268300,OMIM:269000, Orphanet:310382766103527661035ATA8:g.27661035_27661035delClinGen:CA10630814
NM_001017420.3(ESCO2):c.*96C>T157570ESCO2Likely benign-1RCV001163004; NMedGen:C0392475,OMIM:268300,OMIM:269000, Orphanet:310382766105127661051CT8:g.27661051C>T-
NM_001017420.3(ESCO2):c.*112_*113AC[12]157570ESCO2Uncertain significancers56062620RCV000280785; NMedGen:C0392475,OMIM:268300,OMIM:269000, Orphanet:310382766106627661067TTACACAC8:g.27661066_27661067insACACACClinGen:CA10627600C0392475 268300 Roberts-SC phocomelia syndrome;
NM_001017420.3(ESCO2):c.*112_*113AC[10]157570ESCO2Uncertain significancers56062620RCV000291483; NMedGen:C0392475,OMIM:268300,OMIM:269000, Orphanet:310382766106627661067TTAC8:g.27661066_27661067insACClinGen:CA10630817
NM_001017420.3(ESCO2):c.*112_*113AC[14]157570ESCO2Uncertain significancers56062620RCV000296185; NMedGen:C0392475,OMIM:268300,OMIM:269000, Orphanet:310382766106627661067TTACACACACAC8:g.27661066_27661067insACACACACACClinGen:CA10630892C0392475 268300 Roberts-SC phocomelia syndrome;
NM_001017420.3(ESCO2):c.*112_*113AC[11]157570ESCO2Uncertain significancers56062620RCV000325452; NMedGen:C0392475,OMIM:268300,OMIM:269000, Orphanet:310382766106627661067TTACAC8:g.27661066_27661067insACACClinGen:CA10630897
NM_001017420.3(ESCO2):c.*112_*113AC[6]157570ESCO2Uncertain significancers56062620RCV000394547; NMedGen:C0392475,OMIM:268300,OMIM:269000, Orphanet:310382766106727661072TACACACT8:g.27661067_27661072delClinGen:CA10630815C0392475 268300 Roberts-SC phocomelia syndrome;
NM_001017420.3(ESCO2):c.*112_*113AC[7]157570ESCO2Uncertain significancers56062620RCV000348731; NMedGen:C0392475,OMIM:268300,OMIM:269000, Orphanet:310382766106727661070TACACT8:g.27661067_27661070delClinGen:CA10630896
NM_001017420.3(ESCO2):c.*130delinsACACACACACA157570ESCO2Uncertain significancers869163244RCV000338188; NMedGen:C0392475,OMIM:268300,OMIM:269000, Orphanet:310382766108527661085GACACACACACA8:g.27661085_27661086insCACACACACAClinGen:CA10625317
NM_001017420.3(ESCO2):c.*130G>A157570ESCO2Benignrs62498042RCV000400982; NMedGen:C0392475,OMIM:268300,OMIM:269000, Orphanet:310382766108527661085GA8:g.27661085G>AClinGen:CA10630819
NM_001017420.3(ESCO2):c.*141T>C157570ESCO2Benignrs200666958RCV000298401; NMedGen:C0392475,OMIM:268300,OMIM:269000, Orphanet:310382766109627661096TC8:g.27661096T>CClinGen:CA10630899
NM_001017420.3(ESCO2):c.*155T>G157570ESCO2Uncertain significancers886062867RCV000359985; NMedGen:C0392475,OMIM:268300,OMIM:269000, Orphanet:310382766111027661110TG8:g.27661110T>GClinGen:CA10630820
NM_001017420.3(ESCO2):c.*172G>C157570ESCO2Uncertain significancers539459940RCV000402148; NMedGen:C0392475,OMIM:268300,OMIM:269000, Orphanet:310382766112727661127GC8:g.27661127G>CClinGen:CA10630900
NM_001017420.3(ESCO2):c.*222T>C157570ESCO2Uncertain significancers886062868RCV000301776; NMedGen:C0392475,OMIM:268300,OMIM:269000, Orphanet:310382766117727661177TC8:g.27661177T>CClinGen:CA10630901
NM_001017420.3(ESCO2):c.*261T>A157570ESCO2Uncertain significancers886062869RCV000358928; NMedGen:C0392475,OMIM:268300,OMIM:269000, Orphanet:310382766121627661216TA8:g.27661216T>AClinGen:CA10627601
NM_001017420.3(ESCO2):c.*266C>T157570ESCO2Uncertain significance-1RCV001165091; NMedGen:C0392475,OMIM:268300,OMIM:269000, Orphanet:310382766122127661221CT8:g.27661221C>T-
NM_001017420.3(ESCO2):c.*299T>C157570ESCO2Benign-1RCV001165092; NMedGen:C0392475,OMIM:268300,OMIM:269000, Orphanet:310382766125427661254TC8:g.27661254T>C-
NM_001017420.3(ESCO2):c.*363C>A157570ESCO2Benignrs72609983RCV000271260; NMedGen:C0392475,OMIM:268300,OMIM:269000, Orphanet:310382766131827661318CA8:g.27661318C>AClinGen:CA10630825
NM_001017420.3(ESCO2):c.*397A>G157570ESCO2Likely benign-1RCV001158378; NMedGen:C0392475,OMIM:268300,OMIM:269000, Orphanet:310382766135227661352AG8:g.27661352A>G-
NM_001017420.3(ESCO2):c.*425G>A157570ESCO2Benignrs72609984RCV000328621; NMedGen:C0392475,OMIM:268300,OMIM:269000, Orphanet:310382766138027661380GA8:g.27661380G>AClinGen:CA10630829
NM_001017420.3(ESCO2):c.*481dup157570ESCO2Uncertain significancers111395487RCV000362309; NMedGen:C0392475,OMIM:268300,OMIM:269000, Orphanet:310382766142127661422AAT8:g.27661421_27661422insTClinGen:CA10630834
NM_001017420.3(ESCO2):c.*481del157570ESCO2Benignrs111395487RCV000270023; NMedGen:C0392475,OMIM:268300,OMIM:269000, Orphanet:310382766142227661422ATA8:g.27661422_27661422delClinGen:CA10630832
NM_001017420.3(ESCO2):c.*471T>A157570ESCO2Benignrs201762904RCV000332882; NMedGen:C0392475,OMIM:268300,OMIM:269000, Orphanet:310382766142627661426TA8:g.27661426T>AClinGen:CA10630903
NM_001017420.3(ESCO2):c.*491A>G157570ESCO2Benign-1RCV001158379; NMedGen:C0392475,OMIM:268300,OMIM:269000, Orphanet:310382766144627661446AG8:g.27661446A>G-
NM_001017420.3(ESCO2):c.*503_*504GT[1]157570ESCO2Uncertain significancers374900624RCV000389773; NMedGen:C0392475,OMIM:268300,OMIM:269000, Orphanet:310382766145727661458CTGC8:g.27661457_27661458delClinGen:CA10625319
NM_001017420.3(ESCO2):c.*534C>T157570ESCO2Uncertain significancers886062871RCV000293138; NMedGen:C0392475,OMIM:268300,OMIM:269000, Orphanet:310382766148927661489CT8:g.27661489C>TClinGen:CA10625321
NM_001017420.3(ESCO2):c.*538A>G157570ESCO2Uncertain significance-1RCV001158380; NMedGen:C0392475,OMIM:268300,OMIM:269000, Orphanet:310382766149327661493AG8:g.27661493A>G-
NM_001017420.3(ESCO2):c.*697G>C157570ESCO2Uncertain significance-1RCV001158381; NMedGen:C0392475,OMIM:268300,OMIM:269000, Orphanet:310382766165227661652GC8:g.27661652G>C-
NM_001017420.3(ESCO2):c.*770A>C157570ESCO2Uncertain significance-1RCV001161590; NMedGen:C0392475,OMIM:268300,OMIM:269000, Orphanet:310382766172527661725AC8:g.27661725A>C-
NM_001017420.3(ESCO2):c.*915A>G157570ESCO2Uncertain significance-1RCV001161591; NMedGen:C0392475,OMIM:268300,OMIM:269000, Orphanet:310382766187027661870AG8:g.27661870A>G-
NM_001017420.3(ESCO2):c.*982T>C157570ESCO2Uncertain significancers886062872RCV000331721; NMedGen:C0392475,OMIM:268300,OMIM:269000, Orphanet:310382766193727661937TC8:g.27661937T>CClinGen:CA10625323
NM_001017420.3(ESCO2):c.*1397T>A157570ESCO2Uncertain significance-1RCV001161592; NMedGen:C0392475,OMIM:268300,OMIM:269000, Orphanet:310382766235227662352TA8:g.27662352T>A-
MSeqDR Portal