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Eye Diseases, Hereditary (D015785)
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Fibrosis (D005355)
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Ocular Motility Disorders (D015835)
..Starting node
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Fibrosis of Extraocular Muscles, Congenital, 3B (C567739)

       Child Nodes:



 Sister Nodes: 
..expandAthabaskan brainstem dysgenesis (C535397)
..expandDiffuse Lewy Body Disease with Gaze Palsy (C565077)
..expandDuane Retraction Syndrome (D004370) Child2
..expandFibrosis Of Extraocular Muscles, Congenital, 3A, with or without Extraocular Involvement (C567572)
..expandFibrosis of Extraocular Muscles, Congenital, 3B (C567739)
..expandFibrosis of Extraocular Muscles, Congenital, 3C (C567666)
..expandFibrosis of Extraocular Muscles, Congenital, with Synergistic Divergence (C566508)
..expandJoubert syndrome 3 (C536295)
..expandJoubert syndrome 5 (C537688)
..expandJoubert syndrome 6 (C537689)
..expandJoubert Syndrome 7 (C566916)
..expandLevator-Medial Rectus Synkinesis (C563625)
..expandMental Retardation, X-Linked, Syndromic, Christianson Type (C567484)
..expandMiller Fisher Syndrome (D019846)
..expandNEURODEGENERATION WITH ATAXIA, DYSTONIA, AND GAZE PALSY, CHILDHOOD-ONSET (OMIM:617145)
..expandNystagmus, Pathologic (D009759) Child25
..expandOculomotor Nerve Diseases (D015840) Child4
..expandOphthalmoplegia (D009886) Child41  LSDB C:9
..expandOpsoclonus-Myoclonus Syndrome (D053578) Child1
..expandParoxysmal Tonic Upgaze, Benign Childhood, With Ataxia (C566817)
..expandSetting-Sun Phenomenon, Familial Benign (C563470)
..expandStrabismus (D013285) Child13
..expandTolosa-Hunt Syndrome (D020333) Child1
..expandTukel syndrome (C536925)
   

Human Disease MESH is developed by UMLS.
Further data from MedGen, OMIM,ClinVar, CTD
Term ID:4741
Name:Fibrosis of Extraocular Muscles, Congenital, 3B
Definition:
Alternative IDs:OMIM:135700
ParentIDs:MESH:D005355|MESH:D015785|MESH:D015835
TreeNumbers:C10.228.758/C567739 |C10.292.562/C567739 |C11.270/C567739 |C11.590/C567739 |C16.320.290/C567739 |C23.550.355/C567739
Synonyms:Blepharoptosis with Absent Eye Movements |CFEOM1 |CFEOM3B |CFEOM3B, INCLUDED |FEOM1 |FEOM1 LOCUS FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 3B, INCLUDED |Fibrosis Of Extraocular Muscles, Congenital, 1 |Ophthalmoplegia, Congenital
Slim Mappings:Eye disease|Genetic disease (inborn)|Nervous system disease|Pathology (process)
Reference: MedGen: C567739
MeSH: C567739
OMIM: 135700;
MSeqDR LSDB:  
Genes: ANO5; KIF21A;
Phenotypes
1 HP:0000006Autosomal dominant inheritance
2 HP:0001488Bilateral ptosis
3 HP:0001477Compensatory chin elevation
4 HP:0001491Congenital fibrosis of extraocular muscles
5 HP:0000565Esotropia
6 HP:0000577Exotropia
7 HP:0012241Levator palpebrae superioris atrophy
8 HP:0007936Restrictive external ophthalmoplegia
9 HP:0012242Superior rectus atrophy
Disease Causing ClinVar Variants
Variation_NameGeneIDGeneSymbolClinicalSignificancedbSNPRCVaccessionTestedInGTRPhenotypeIDsChromosomeStartStopHGVS_cHGVS_pHGVS_gOtherIDsDisease_ClinVar
NM_001173464.2(KIF21A):c.*1157A>T55605KIF21AUncertain significancers886049330RCV000389321; NMONDO:MONDO:0021083,MedGen:C1851102,OMIM:135700123968706939687069TANC_000012.11:g.39687069T>AClinGen:CA10641098CN043677 Congenital fibrosis of the extraocular muscles;
NM_001173464.2(KIF21A):c.*1022A>T55605KIF21AUncertain significancers886049331RCV000276152; NMONDO:MONDO:0021083,MedGen:C1851102,OMIM:135700123968720439687204TANC_000012.11:g.39687204T>AClinGen:CA10641099CN043677 Congenital fibrosis of the extraocular muscles;
NM_001173464.2(KIF21A):c.*1010T>C55605KIF21AUncertain significancers886049332RCV000326630; NMONDO:MONDO:0021083,MedGen:C1851102,OMIM:135700123968721639687216AGNC_000012.11:g.39687216A>GClinGen:CA10637307CN043677 Congenital fibrosis of the extraocular muscles;
NM_001173464.2(KIF21A):c.*935A>G55605KIF21AUncertain significancers886049333RCV000381215; NMONDO:MONDO:0021083,MedGen:C1851102,OMIM:135700123968729139687291TCNC_000012.11:g.39687291T>CClinGen:CA10642043CN043677 Congenital fibrosis of the extraocular muscles;
NM_001173464.2(KIF21A):c.*812T>C55605KIF21ABenignrs532231850RCV000346233; NMONDO:MONDO:0021083,MedGen:C1851102,OMIM:135700123968741439687414AG12:g.39687414A>GClinGen:CA10637308CN043677 Congenital fibrosis of the extraocular muscles;
NM_001173464.2(KIF21A):c.*707A>G55605KIF21ABenignrs536139187RCV000377583; NMONDO:MONDO:0021083,MedGen:C1851102,OMIM:135700123968751939687519TC12:g.39687519T>CClinGen:CA10632647CN043677 Congenital fibrosis of the extraocular muscles;
NM_001173464.2(KIF21A):c.*690T>C55605KIF21AUncertain significancers886049336RCV000400760; NMONDO:MONDO:0021083,MedGen:C1851102,OMIM:135700123968753639687536AG12:g.39687536A>GClinGen:CA10641102CN043677 Congenital fibrosis of the extraocular muscles;
NM_001173464.2(KIF21A):c.*645T>G55605KIF21ABenignrs554887830RCV000298623; NMONDO:MONDO:0021083,MedGen:C1851102,OMIM:135700123968758139687581AC12:g.39687581A>CClinGen:CA10642058CN043677 Congenital fibrosis of the extraocular muscles;
NM_001173464.2(KIF21A):c.*582G>A55605KIF21AUncertain significancers767760567RCV001113698; NMONDO:MONDO:0021083,MedGen:C1851102,OMIM:135700123968764439687644CT12:g.39687644C>T-
NM_001173464.2(KIF21A):c.*531T>C55605KIF21AUncertain significancers1479577907RCV001113699; NMONDO:MONDO:0021083,MedGen:C1851102,OMIM:135700123968769539687695AG12:g.39687695A>G-
NM_001173464.2(KIF21A):c.*472A>G55605KIF21ABenignrs11171674RCV000334900; NMONDO:MONDO:0021083,MedGen:C1851102,OMIM:135700123968775439687754TC12:g.39687754T>CClinGen:CA10637309CN043677 Congenital fibrosis of the extraocular muscles;
NM_001173464.2(KIF21A):c.*451A>G55605KIF21AUncertain significancers183559712RCV000392819; NMONDO:MONDO:0021083,MedGen:C1851102,OMIM:135700123968777539687775TC12:g.39687775T>CClinGen:CA10637320CN043677 Congenital fibrosis of the extraocular muscles;
NM_001173464.2(KIF21A):c.*447A>G55605KIF21ABenignrs74088336RCV000299937; NMONDO:MONDO:0021083,MedGen:C1851102,OMIM:135700123968777939687779TCNC_000012.11:g.39687779T>CClinGen:CA10637323CN043677 Congenital fibrosis of the extraocular muscles;
NM_001173464.2(KIF21A):c.*418A>G55605KIF21ABenignrs77242017RCV000368771; NMONDO:MONDO:0021083,MedGen:C1851102,OMIM:135700123968780839687808TCNC_000012.11:g.39687808T>CClinGen:CA10632651CN043677 Congenital fibrosis of the extraocular muscles;
NM_001173464.2(KIF21A):c.*366C>T55605KIF21AUncertain significancers1942069691RCV001109678; NMONDO:MONDO:0021083,MedGen:C1851102,OMIM:135700123968786039687860GA12:g.39687860G>A-
NM_001173464.2(KIF21A):c.*326T>A55605KIF21AUncertain significancers886049337RCV000274194; NMONDO:MONDO:0021083,MedGen:C1851102,OMIM:135700123968790039687900ATNC_000012.11:g.39687900A>TClinGen:CA10641104CN043677 Congenital fibrosis of the extraocular muscles;
NM_001173464.2(KIF21A):c.*237A>G55605KIF21ABenignrs11171675RCV000315285; NMONDO:MONDO:0021083,MedGen:C1851102,OMIM:135700123968798939687989TCNC_000012.11:g.39687989T>CClinGen:CA10641105CN043677 Congenital fibrosis of the extraocular muscles;
NM_001173464.2(KIF21A):c.*211C>G55605KIF21AUncertain significancers886049338RCV000370007; NMONDO:MONDO:0021083,MedGen:C1851102,OMIM:135700123968801539688015GCNC_000012.11:g.39688015G>CClinGen:CA10641110CN043677 Congenital fibrosis of the extraocular muscles;
NM_001173464.2(KIF21A):c.*71C>G55605KIF21ALikely benignrs111409014RCV001109679; NMONDO:MONDO:0021083,MedGen:C1851102,OMIM:135700123968815539688155GC12:g.39688155G>C-
NM_001173464.2(KIF21A):c.*65G>A55605KIF21AUncertain significancers888970061RCV001109680; NMONDO:MONDO:0021083,MedGen:C1851102,OMIM:135700123968816139688161CT12:g.39688161C>T-
NM_001173464.2(KIF21A):c.4961G>T (p.Arg1654Leu)55605KIF21AUncertain significancers373406994RCV000268861; NMONDO:MONDO:0021083,MedGen:C1851102,OMIM:135700123968829039688290CANC_000012.11:g.39688290C>AClinGen:CA6510048CN043677 Congenital fibrosis of the extraocular muscles;
NM_001173464.2(KIF21A):c.4891G>A (p.Ala1631Thr)55605KIF21AUncertain significancers886049339RCV000326200; NMONDO:MONDO:0021083,MedGen:C1851102,OMIM:135700123969532239695322CTNC_000012.11:g.39695322C>TClinGen:CA10642059CN043677 Congenital fibrosis of the extraocular muscles;
NM_001173464.2(KIF21A):c.4814G>A (p.Gly1605Glu)55605KIF21AUncertain significancers1942967439RCV001111981; NMONDO:MONDO:0021083,MedGen:C1851102,OMIM:135700123969539939695399CT12:g.39695399C>T-
NM_001173464.2(KIF21A):c.4768C>T (p.Leu1590=)55605KIF21ABenignrs2271477RCV000383091; NMONDO:MONDO:0021083,MedGen:C1851102,OMIM:135700123969544539695445GANC_000012.11:g.39695445G>AClinGen:CA6510091CN043677 Congenital fibrosis of the extraocular muscles;
NM_001173464.2(KIF21A):c.4562T>G (p.Met1521Arg)55605KIF21ABenignrs142038295RCV000272319; NMONDO:MONDO:0021083,MedGen:C1851102,OMIM:135700123969693639696936ACNC_000012.11:g.39696936A>CClinGen:CA6510141CN043677 Congenital fibrosis of the extraocular muscles;
NM_001173464.2(KIF21A):c.4542C>G (p.Ser1514=)55605KIF21ABenignrs11171689RCV000320274|RCV000971586; NMONDO:MONDO:0021083,MedGen:C1851102,OMIM:135700|MedGen:CN517202123969864139698641GCNC_000012.11:g.39698641G>CClinGen:CA6510152CN043677 Congenital fibrosis of the extraocular muscles;
NM_001173464.2(KIF21A):c.4536T>C (p.Thr1512=)55605KIF21ABenignrs144103791RCV000377256|RCV000903208; NMONDO:MONDO:0021083,MedGen:C1851102,OMIM:135700|MedGen:CN517202123969864739698647AGNC_000012.11:g.39698647A>GClinGen:CA6510153CN043677 Congenital fibrosis of the extraocular muscles;
NM_001173464.2(KIF21A):c.4528A>C (p.Ile1510Leu)55605KIF21AUncertain significancers886049340RCV000287324; NMONDO:MONDO:0021083,MedGen:C1851102,OMIM:135700123969865539698655TGNC_000012.11:g.39698655T>GClinGen:CA10641118CN043677 Congenital fibrosis of the extraocular muscles;
NM_001173464.2(KIF21A):c.4515T>G (p.Ser1505Arg)55605KIF21ABenignrs62000373RCV000893947|RCV001111982; NMedGen:CN517202|MONDO:MONDO:0021083,MedGen:C1851102,OMIM:135700123969866839698668AC12:g.39698668A>C-
NM_001173464.2(KIF21A):c.4471C>T (p.His1491Tyr)55605KIF21AUncertain significancers748150530RCV000335321; NMONDO:MONDO:0021083,MedGen:C1851102,OMIM:135700123969871239698712GANC_000012.11:g.39698712G>AClinGen:CA6510167CN043677 Congenital fibrosis of the extraocular muscles;
NM_001173464.2(KIF21A):c.4277C>T (p.Thr1426Met)55605KIF21ALikely benignrs781214904RCV000373719; NMONDO:MONDO:0021083,MedGen:C1851102,OMIM:135700123970338839703388GANC_000012.11:g.39703388G>AClinGen:CA6510226CN043677 Congenital fibrosis of the extraocular muscles;
NM_001173464.2(KIF21A):c.4268G>A (p.Arg1423Gln)55605KIF21AUncertain significancers749290916RCV001112436; NMONDO:MONDO:0021083,MedGen:C1851102,OMIM:135700123970339739703397CT12:g.39703397C>T-
NM_001173464.2(KIF21A):c.4264A>G (p.Ile1422Val)55605KIF21AUncertain significancers886049341RCV000281544; NMONDO:MONDO:0021083,MedGen:C1851102,OMIM:135700123970340139703401TCNC_000012.11:g.39703401T>CClinGen:CA10642067CN043677 Congenital fibrosis of the extraocular muscles;
NM_001173464.2(KIF21A):c.4044A>G (p.Lys1348=)55605KIF21ABenignrs201297981RCV000338655|RCV000910507; NMONDO:MONDO:0021083,MedGen:C1851102,OMIM:135700|MedGen:CN517202123970527139705271TCNC_000012.11:g.39705271T>CClinGen:CA6510296CN043677 Congenital fibrosis of the extraocular muscles;
NM_001173464.2(KIF21A):c.3968T>C (p.Ile1323Thr)55605KIF21AUncertain significance-1RCV001771718; NMONDO:MONDO:0021083,MedGen:C1851102,OMIM:135700123970534739705347AG39705347-
NM_001173464.2(KIF21A):c.3960-11C>T55605KIF21ABenignrs201115347RCV001112437; NMONDO:MONDO:0021083,MedGen:C1851102,OMIM:135700123970536639705366GA12:g.39705366G>A-
NM_001173464.2(KIF21A):c.3959G>A (p.Arg1320Lys)55605KIF21ABenignrs142879430RCV000401978; NMONDO:MONDO:0021083,MedGen:C1851102,OMIM:135700123970903139709031CTNC_000012.11:g.39709031C>TClinGen:CA6510329CN043677 Congenital fibrosis of the extraocular muscles;
NM_001173464.2(KIF21A):c.3915T>C (p.Asp1305=)55605KIF21AUncertain significancers1944493997RCV001112438; NMONDO:MONDO:0021083,MedGen:C1851102,OMIM:135700123970976639709766AG12:g.39709766A>G-
NM_001173464.2(KIF21A):c.3887dup (p.Asn1296fs)55605KIF21AUncertain significancers1565724702RCV000779101; NMONDO:MONDO:0021083,MedGen:C1851102,OMIM:135700123971189539711896GGTNC_000012.11:g.39711898dup-
NM_001173464.2(KIF21A):c.3877_3878insTTAAT (p.Ser1293fs)55605KIF21AUncertain significancers1565724893RCV000779102; NMONDO:MONDO:0021083,MedGen:C1851102,OMIM:135700123971190539711906GGATTAANC_000012.11:g.39711906_39711907insTTAAA-
NM_001173464.2(KIF21A):c.3872C>A (p.Thr1291Asn)55605KIF21AUncertain significancers886049342RCV000313138; NMONDO:MONDO:0021083,MedGen:C1851102,OMIM:135700123971191139711911GTNC_000012.11:g.39711911G>TClinGen:CA10641128CN043677 Congenital fibrosis of the extraocular muscles;
NM_001173464.2(KIF21A):c.3842G>A (p.Arg1281His)55605KIF21ABenignrs747176706RCV001113782; NMONDO:MONDO:0021083,MedGen:C1851102,OMIM:135700123971194139711941CT12:g.39711941C>T-
NM_001173464.2(KIF21A):c.3711G>T (p.Glu1237Asp)55605KIF21ABenignrs75223821RCV000351593; NMONDO:MONDO:0021083,MedGen:C1851102,OMIM:135700123971377639713776CANC_000012.11:g.39713776C>AClinGen:CA6510438CN043677 Congenital fibrosis of the extraocular muscles;
NM_001173464.2(KIF21A):c.3641C>G (p.Pro1214Arg)55605KIF21ABenignrs149075970RCV000406843; NMONDO:MONDO:0021083,MedGen:C1851102,OMIM:135700123971650039716500GCNC_000012.11:g.39716500G>CClinGen:CA6510462CN043677 Congenital fibrosis of the extraocular muscles;
NM_001173464.2(KIF21A):c.3554C>T (p.Pro1185Leu)55605KIF21AUncertain significancers1316892081RCV001113783; NMONDO:MONDO:0021083,MedGen:C1851102,OMIM:135700123971658739716587GA12:g.39716587G>A-
NM_001173464.2(KIF21A):c.3332T>C (p.Val1111Ala)55605KIF21ABenignrs150294289RCV000363848|RCV000904253; NMONDO:MONDO:0021083,MedGen:C1851102,OMIM:135700|MedGen:CN517202123972405239724052AGNC_000012.11:g.39724052A>GClinGen:CA6510558CN043677 Congenital fibrosis of the extraocular muscles;
NM_001173464.2(KIF21A):c.3320-4A>T55605KIF21ALikely benignrs371915160RCV000271686|RCV000939609; NMONDO:MONDO:0021083,MedGen:C1851102,OMIM:135700|MedGen:CN517202123972406839724068TANC_000012.11:g.39724068T>AClinGen:CA6510564CN043677 Congenital fibrosis of the extraocular muscles;
NM_001173464.2(KIF21A):c.3149A>G (p.Asn1050Ser)55605KIF21ABenignrs142268373RCV000310515|RCV000882518; NMONDO:MONDO:0021083,MedGen:C1851102,OMIM:135700|MedGen:CN517202123972549639725496TCNC_000012.11:g.39725496T>CClinGen:CA6510607CN043677 Congenital fibrosis of the extraocular muscles;
NM_001173464.2(KIF21A):c.3118C>T (p.Leu1040=)55605KIF21ABenignrs79512568RCV000358244|RCV000972080; NMONDO:MONDO:0021083,MedGen:C1851102,OMIM:135700|MedGen:CN517202123972552739725527GANC_000012.11:g.39725527G>AClinGen:CA6510612CN043677 Congenital fibrosis of the extraocular muscles;
NM_001173464.2(KIF21A):c.3111C>T (p.Ala1037=)55605KIF21ABenignrs145404005RCV000265966; NMONDO:MONDO:0021083,MedGen:C1851102,OMIM:135700123972553439725534GANC_000012.11:g.39725534G>AClinGen:CA6510614CN043677 Congenital fibrosis of the extraocular muscles;
NM_001173464.2(KIF21A):c.3082G>A (p.Val1028Ile)55605KIF21AUncertain significancers1946526630RCV001109763; NMONDO:MONDO:0021083,MedGen:C1851102,OMIM:135700123972556339725563CT12:g.39725563C>T-
NM_001173464.2(KIF21A):c.3029T>C (p.Ile1010Thr)55605KIF21APathogenicrs121912587RCV000002542; NMONDO:MONDO:0021083,MedGen:C1851102,OMIM:135700123972603839726038AG12:g.39726038A>GClinGen:CA252283,UniProtKB:Q7Z4S6#VAR_019404,OMIM:608283.0003C1851102 135700 Fibrosis of extraocular muscles, congenital, 1;
NM_001173464.2(KIF21A):c.2861G>A (p.Arg954Gln)55605KIF21APathogenicrs121912586RCV000002541|RCV000002540; NMedGen:C2751105|MONDO:MONDO:0021083,MedGen:C1851102,OMIM:135700123972620639726206CT12:g.39726206C>TClinGen:CA115555,UniProtKB:Q7Z4S6#VAR_019402,OMIM:608283.0002C1851102 135700 Fibrosis of extraocular muscles, congenital, 1;
NM_001173464.2(KIF21A):c.2860C>T (p.Arg954Trp)55605KIF21APathogenicrs121912585RCV000002538|RCV000002539|RCV000267056; NMONDO:MONDO:0021083,MedGen:C1851102,OMIM:135700|MedGen:C2751105|MedGen:CN517202123972620739726207GA12:g.39726207G>AClinGen:CA115554,UniProtKB:Q7Z4S6#VAR_019403,OMIM:608283.0001C1851102 135700 Fibrosis of extraocular muscles, congenital, 1;
NM_001173464.2(KIF21A):c.2840T>G (p.Met947Arg)55605KIF21APathogenicrs121912590RCV000002545; NMONDO:MONDO:0021083,MedGen:C1851102,OMIM:135700123972640939726409AC12:g.39726409A>CClinGen:CA252285,UniProtKB:Q7Z4S6#VAR_019400,OMIM:608283.0006C1851102 135700 Fibrosis of extraocular muscles, congenital, 1;
NM_001173464.2(KIF21A):c.2839A>G (p.Met947Val)55605KIF21APathogenicrs121912589RCV000002544; NMONDO:MONDO:0021083,MedGen:C1851102,OMIM:135700123972641039726410TC12:g.39726410T>CClinGen:CA252284,UniProtKB:Q7Z4S6#VAR_019401,OMIM:608283.0005C1851102 135700 Fibrosis of extraocular muscles, congenital, 1;
NM_001173464.2(KIF21A):c.2798T>A (p.Ile933Asn)55605KIF21AUncertain significancers886049343RCV000323422; NMONDO:MONDO:0021083,MedGen:C1851102,OMIM:135700123972645139726451ATNC_000012.11:g.39726451A>TClinGen:CA10642076CN043677 Congenital fibrosis of the extraocular muscles;
NM_001173464.2(KIF21A):c.2782C>T (p.Arg928Cys)55605KIF21AUncertain significancers749644826RCV000361240; NMONDO:MONDO:0021083,MedGen:C1851102,OMIM:135700123972646739726467GANC_000012.11:g.39726467G>AClinGen:CA6510695CN043677 Congenital fibrosis of the extraocular muscles;
NM_001173464.2(KIF21A):c.2744T>C (p.Ile915Thr)55605KIF21AUncertain significancers886049344RCV000259437; NMONDO:MONDO:0021083,MedGen:C1851102,OMIM:135700123972650539726505AGNC_000012.11:g.39726505A>GClinGen:CA10637329CN043677 Congenital fibrosis of the extraocular muscles;
NM_001173464.2(KIF21A):c.2684C>T (p.Pro895Leu)55605KIF21ABenignrs149718388RCV000894861|RCV001109764; NMedGen:CN517202|MONDO:MONDO:0021083,MedGen:C1851102,OMIM:135700123972671339726713GA12:g.39726713G>A-
NM_001173464.2(KIF21A):c.2660C>T (p.Ala887Val)55605KIF21ABenignrs145318959RCV001109765; NMONDO:MONDO:0021083,MedGen:C1851102,OMIM:135700123972673739726737GA12:g.39726737G>A-
NM_001173464.2(KIF21A):c.2541A>G (p.Lys847=)55605KIF21ABenignrs145897823RCV000316988|RCV000883755; NMONDO:MONDO:0021083,MedGen:C1851102,OMIM:135700|MedGen:CN517202123972685639726856TCNC_000012.11:g.39726856T>CClinGen:CA6510760CN043677 Congenital fibrosis of the extraocular muscles;
NM_001173464.2(KIF21A):c.2535T>A (p.Ala845=)55605KIF21AUncertain significancers148166854RCV000373906; NMONDO:MONDO:0021083,MedGen:C1851102,OMIM:135700123972686239726862ATNC_000012.11:g.39726862A>TClinGen:CA6510764CN043677 Congenital fibrosis of the extraocular muscles;
NM_001173464.2(KIF21A):c.2503C>T (p.Arg835Trp)55605KIF21AUncertain significancers1458182449RCV001110552; NMONDO:MONDO:0021083,MedGen:C1851102,OMIM:135700123972689439726894GA12:g.39726894G>A-
NM_001173464.2(KIF21A):c.2492C>T (p.Thr831Met)55605KIF21ALikely benignrs764601859RCV000281670; NMONDO:MONDO:0021083,MedGen:C1851102,OMIM:135700123972690539726905GANC_000012.11:g.39726905G>AClinGen:CA6510771CN043677 Congenital fibrosis of the extraocular muscles;
NM_001173464.2(KIF21A):c.2492C>G (p.Thr831Arg)55605KIF21AUncertain significancers764601859RCV001110553; NMONDO:MONDO:0021083,MedGen:C1851102,OMIM:135700123972690539726905GC12:g.39726905G>C-
NM_001173464.2(KIF21A):c.2487+5A>T55605KIF21ABenignrs376142046RCV000329721; NMONDO:MONDO:0021083,MedGen:C1851102,OMIM:135700123972700939727009TANC_000012.11:g.39727009T>AClinGen:CA6510780CN043677 Congenital fibrosis of the extraocular muscles;
NM_001173464.2(KIF21A):c.2431C>T (p.Leu811Phe)55605KIF21AUncertain significancers779688115RCV000386473; NMONDO:MONDO:0021083,MedGen:C1851102,OMIM:135700123972707039727070GANC_000012.11:g.39727070G>AClinGen:CA6510787CN043677 Congenital fibrosis of the extraocular muscles;
NM_001173464.2(KIF21A):c.2418+2T>C55605KIF21AUncertain significancers1565839016RCV000779103; NMONDO:MONDO:0021083,MedGen:C1851102,OMIM:135700123973089639730896AGNC_000012.11:g.39730896A>G-
NM_001173464.2(KIF21A):c.2310+10A>G55605KIF21ABenignrs201113357RCV000294581; NMONDO:MONDO:0021083,MedGen:C1851102,OMIM:135700123973395739733957TCNC_000012.11:g.39733957T>CClinGen:CA6510847CN043677 Congenital fibrosis of the extraocular muscles;
NM_001173464.2(KIF21A):c.2305A>G (p.Thr769Ala)55605KIF21ABenignrs200645253RCV000352193; NMONDO:MONDO:0021083,MedGen:C1851102,OMIM:135700123973397239733972TC12:g.39733972T>CClinGen:CA6510851CN043677 Congenital fibrosis of the extraocular muscles;
NM_001173464.2(KIF21A):c.1899A>G (p.Ser633=)55605KIF21AUncertain significancers1947443550RCV001112531; NMONDO:MONDO:0021083,MedGen:C1851102,OMIM:135700123973532939735329TC12:g.39735329T>C-
NM_001173464.2(KIF21A):c.1886G>T (p.Ser629Ile)55605KIF21ABenignrs765856120RCV000399984; NMONDO:MONDO:0021083,MedGen:C1851102,OMIM:135700123973534239735342CA12:g.39735342C>AClinGen:CA6510910CN043677 Congenital fibrosis of the extraocular muscles;
NM_001173464.2(KIF21A):c.1880G>T (p.Gly627Val)55605KIF21ABenignrs79089655RCV000289132|RCV001701946; NMONDO:MONDO:0021083,MedGen:C1851102,OMIM:135700|MedGen:CN169374123973534839735348CA12:g.39735348C>AClinGen:CA6510911CN043677 Congenital fibrosis of the extraocular muscles;
NM_001173464.2(KIF21A):c.1851G>A (p.Glu617=)55605KIF21ALikely benignrs147473938RCV000941793|RCV001112532; NMedGen:CN517202|MONDO:MONDO:0021083,MedGen:C1851102,OMIM:135700123973537739735377CT12:g.39735377C>T-
NM_001173464.2(KIF21A):c.1804-15C>T55605KIF21ABenignrs376342352RCV001112533; NMONDO:MONDO:0021083,MedGen:C1851102,OMIM:135700123973543939735439GA12:g.39735439G>A-
NM_001173464.2(KIF21A):c.1776G>A (p.Ser592=)55605KIF21ABenignrs143782701RCV000346454; NMONDO:MONDO:0021083,MedGen:C1851102,OMIM:135700123973586339735863CT12:g.39735863C>TClinGen:CA6510936CN043677 Congenital fibrosis of the extraocular muscles;
NM_001173464.2(KIF21A):c.1713-11C>G55605KIF21ABenignrs142304324RCV000390001; NMONDO:MONDO:0021083,MedGen:C1851102,OMIM:135700123973593739735937GC12:g.39735937G>CClinGen:CA6510954CN043677 Congenital fibrosis of the extraocular muscles;
NM_001173464.2(KIF21A):c.1628A>G (p.Lys543Arg)55605KIF21ABenignrs149219011RCV000302061|RCV000954280; NMONDO:MONDO:0021083,MedGen:C1851102,OMIM:135700|MedGen:CN517202123974562439745624TC12:g.39745624T>CClinGen:CA6510978CN043677 Congenital fibrosis of the extraocular muscles;
NM_001173464.2(KIF21A):c.1542G>A (p.Ala514=)55605KIF21ALikely benignrs199973182RCV000359150|RCV000899267; NMONDO:MONDO:0021083,MedGen:C1851102,OMIM:135700|MedGen:CN517202123974571039745710CT12:g.39745710C>TClinGen:CA6510987CN043677 Congenital fibrosis of the extraocular muscles;
NM_001173464.2(KIF21A):c.1469+10A>G55605KIF21ABenignrs73266501RCV000390994|RCV000967261; NMONDO:MONDO:0021083,MedGen:C1851102,OMIM:135700|MedGen:CN517202123975062439750624TC12:g.39750624T>CClinGen:CA6511018CN043677 Congenital fibrosis of the extraocular muscles;
NM_001173464.2(KIF21A):c.1458C>A (p.Ile486=)55605KIF21ABenignrs200512673RCV001113864; NMONDO:MONDO:0021083,MedGen:C1851102,OMIM:135700123975064539750645GT12:g.39750645G>T-
NM_001173464.2(KIF21A):c.1335G>T (p.Thr445=)55605KIF21ABenignrs61740919RCV000297512|RCV000959264; NMONDO:MONDO:0021083,MedGen:C1851102,OMIM:135700|MedGen:CN517202123975112039751120CANC_000012.11:g.39751120C>AClinGen:CA6511062CN043677 Congenital fibrosis of the extraocular muscles;
NM_001173464.2(KIF21A):c.1321G>A (p.Ala441Thr)55605KIF21AUncertain significancers886049345RCV000354754; NMONDO:MONDO:0021083,MedGen:C1851102,OMIM:135700123975113439751134CTNC_000012.11:g.39751134C>TClinGen:CA10637334CN043677 Congenital fibrosis of the extraocular muscles;
NM_001173464.2(KIF21A):c.1279A>G (p.Met427Val)55605KIF21AUncertain significancers375541289RCV001113865; NMONDO:MONDO:0021083,MedGen:C1851102,OMIM:135700123975117639751176TC12:g.39751176T>C-
NM_001173464.2(KIF21A):c.1240G>C (p.Gly414Arg)55605KIF21ABenign/Likely benignrs78616703RCV000262273|RCV000894701; NMONDO:MONDO:0021083,MedGen:C1851102,OMIM:135700|MedGen:CN517202123975121539751215CGNC_000012.11:g.39751215C>GClinGen:CA6511073CN043677 Congenital fibrosis of the extraocular muscles;
NM_001173464.2(KIF21A):c.1160A>G (p.Asn387Ser)55605KIF21ABenignrs745692702RCV000319726|RCV000903904; NMONDO:MONDO:0021083,MedGen:C1851102,OMIM:135700|MedGen:CN517202123975203539752035TCNC_000012.11:g.39752035T>CClinGen:CA6511100CN043677 Congenital fibrosis of the extraocular muscles;
NM_001173464.2(KIF21A):c.1104T>G (p.Ala368=)55605KIF21ABenignrs187327535RCV001109847; NMONDO:MONDO:0021083,MedGen:C1851102,OMIM:135700123975209139752091AC12:g.39752091A>C-
NM_001173464.2(KIF21A):c.1067T>C (p.Met356Thr)55605KIF21APathogenicrs121912588RCV000002543; NMONDO:MONDO:0021083,MedGen:C1851102,OMIM:135700123975212839752128AG12:g.39752128A>GClinGen:CA339982,UniProtKB:Q7Z4S6#VAR_019399,OMIM:608283.0004C1851102 135700 Fibrosis of extraocular muscles, congenital, 1;
NM_001173464.2(KIF21A):c.1038A>G (p.Ala346=)55605KIF21ABenign/Likely benignrs148354450RCV000926480|RCV001109848; NMedGen:CN517202|MONDO:MONDO:0021083,MedGen:C1851102,OMIM:135700123975215739752157TC12:g.39752157T>C-
NM_001173464.2(KIF21A):c.975T>C (p.Asp325=)55605KIF21ABenignrs143790968RCV000367512|RCV000906309; NMONDO:MONDO:0021083,MedGen:C1851102,OMIM:135700|MedGen:CN517202123975694439756944AGNC_000012.11:g.39756944A>GClinGen:CA6511147CN043677 Congenital fibrosis of the extraocular muscles;
NM_001173464.2(KIF21A):c.903T>A (p.Leu301=)55605KIF21ABenignrs78806233RCV000275294|RCV000885359; NMONDO:MONDO:0021083,MedGen:C1851102,OMIM:135700|MedGen:CN517202123976015239760152ATNC_000012.11:g.39760152A>TClinGen:CA6511175CN043677 Congenital fibrosis of the extraocular muscles;
NM_001173464.2(KIF21A):c.825C>T (p.Leu275=)55605KIF21AUncertain significancers143876096RCV000332722; NMONDO:MONDO:0021083,MedGen:C1851102,OMIM:135700123976023039760230GANC_000012.11:g.39760230G>AClinGen:CA6511184CN043677 Congenital fibrosis of the extraocular muscles;
NM_001173464.2(KIF21A):c.681T>C (p.His227=)55605KIF21AUncertain significancers753495640RCV001109849; NMONDO:MONDO:0021083,MedGen:C1851102,OMIM:135700123976088639760886AG12:g.39760886A>G-
NM_001173464.2(KIF21A):c.608A>G (p.Gln203Arg)55605KIF21ABenignrs149328427RCV000389659; NMONDO:MONDO:0021083,MedGen:C1851102,OMIM:135700123976095939760959TCNC_000012.11:g.39760959T>CClinGen:CA6511215CN043677 Congenital fibrosis of the extraocular muscles;
NM_001173464.2(KIF21A):c.578G>A (p.Arg193His)55605KIF21ABenignrs770064077RCV000287713; NMONDO:MONDO:0021083,MedGen:C1851102,OMIM:135700123976170739761707CTNC_000012.11:g.39761707C>TClinGen:CA6511235CN043677 Congenital fibrosis of the extraocular muscles;
NM_001173464.2(KIF21A):c.568G>A (p.Val190Ile)55605KIF21ALikely benignrs141530856RCV001110639; NMONDO:MONDO:0021083,MedGen:C1851102,OMIM:135700123976171739761717CT12:g.39761717C>T-
NM_001173464.2(KIF21A):c.268-14G>T55605KIF21AUncertain significancers762377796RCV000326294; NMONDO:MONDO:0021083,MedGen:C1851102,OMIM:135700123976372739763727CANC_000012.11:g.39763727C>AClinGen:CA10642097CN043677 Congenital fibrosis of the extraocular muscles;
NM_001173464.2(KIF21A):c.197T>C (p.Ile66Thr)55605KIF21AUncertain significancers1227646139RCV001110640; NMONDO:MONDO:0021083,MedGen:C1851102,OMIM:135700123976391139763911AG12:g.39763911A>G-
NM_001173464.2(KIF21A):c.162A>G (p.Val54=)55605KIF21ALikely benignrs754537818RCV000383189; NMONDO:MONDO:0021083,MedGen:C1851102,OMIM:135700123976394639763946TCNC_000012.11:g.39763946T>CClinGen:CA6511323CN043677 Congenital fibrosis of the extraocular muscles;
NM_001173464.2(KIF21A):c.44+15C>G55605KIF21AUncertain significancers1478935702RCV001110641; NMONDO:MONDO:0021083,MedGen:C1851102,OMIM:135700123983671439836714GC12:g.39836714G>C-
NM_001173464.2(KIF21A):c.44+5G>A55605KIF21AUncertain significancers986920207RCV001110642; NMONDO:MONDO:0021083,MedGen:C1851102,OMIM:135700123983672439836724CT12:g.39836724C>T-
NM_001173464.2(KIF21A):c.-19A>G55605KIF21ABenignrs139423015RCV000291144; NMONDO:MONDO:0021083,MedGen:C1851102,OMIM:135700123983679139836791TCNC_000012.11:g.39836791T>CClinGen:CA6511359CN043677 Congenital fibrosis of the extraocular muscles;
NM_001173464.2(KIF21A):c.-31C>T55605KIF21ABenignrs554379231RCV000339041; NMONDO:MONDO:0021083,MedGen:C1851102,OMIM:135700123983680339836803GANC_000012.11:g.39836803G>AClinGen:CA6511360CN043677 Congenital fibrosis of the extraocular muscles;
NM_001173464.2(KIF21A):c.-41G>A55605KIF21AUncertain significancers886049346RCV000398354; NMONDO:MONDO:0021083,MedGen:C1851102,OMIM:135700123983681339836813CTNC_000012.11:g.39836813C>TClinGen:CA10642103CN043677 Congenital fibrosis of the extraocular muscles;
NM_001173464.2(KIF21A):c.-146G>A55605KIF21AUncertain significancers886049347RCV000285220; NMONDO:MONDO:0021083,MedGen:C1851102,OMIM:135700123983691839836918CTNC_000012.11:g.39836918C>TClinGen:CA10642108CN043677 Congenital fibrosis of the extraocular muscles;
NM_001173464.2(KIF21A):c.-147C>A55605KIF21AUncertain significancers886049348RCV000342480; NMONDO:MONDO:0021083,MedGen:C1851102,OMIM:135700123983691939836919GTNC_000012.11:g.39836919G>TClinGen:CA10632667CN043677 Congenital fibrosis of the extraocular muscles;
NM_017641.3(KIF21A):c.-165G>T55605KIF21ABenignrs111306046RCV000400345; NMONDO:MONDO:0021083,MedGen:C1851102,OMIM:135700123983693739836937CANC_000012.11:g.39836937C>AClinGen:CA10637343CN043677 Congenital fibrosis of the extraocular muscles;
NM_017641.3(KIF21A):c.-195A>G55605KIF21ABenignrs532130145RCV000299080; NMONDO:MONDO:0021083,MedGen:C1851102,OMIM:135700123983696739836967TCNC_000012.11:g.39836967T>CClinGen:CA10637344CN043677 Congenital fibrosis of the extraocular muscles;
NM_017641.3(KIF21A):c.-203C>G55605KIF21AUncertain significancers886049349RCV000356285; NMONDO:MONDO:0021083,MedGen:C1851102,OMIM:135700123983697539836975GCNC_000012.11:g.39836975G>CClinGen:CA10632668CN043677 Congenital fibrosis of the extraocular muscles;
NM_017641.3(KIF21A):c.-210C>T55605KIF21ABenignrs113038492RCV000392657; NMONDO:MONDO:0021083,MedGen:C1851102,OMIM:135700123983698239836982GANC_000012.11:g.39836982G>AClinGen:CA10641146CN043677 Congenital fibrosis of the extraocular muscles;
NC_000012.12:g.39443210C>G55605KIF21ABenignrs562588358RCV001112621; NMONDO:MONDO:0021083,MedGen:C1851102,OMIM:135700123983701239837012CG12:g.39837012C>G-
NM_017641.3(KIF21A):c.-245C>T55605KIF21AUncertain significancers886049350RCV000312049; NMONDO:MONDO:0021083,MedGen:C1851102,OMIM:135700123983701739837017GANC_000012.11:g.39837017G>AClinGen:CA10632674CN043677 Congenital fibrosis of the extraocular muscles;
NC_000012.12:g.39443227G>T55605KIF21ABenignrs529777052RCV001113966; NMONDO:MONDO:0021083,MedGen:C1851102,OMIM:135700123983702939837029GT12:g.39837029G>T-
NM_017641.3(KIF21A):c.-313G>A55605KIF21ABenignrs11835359RCV000369031; NMONDO:MONDO:0021083,MedGen:C1851102,OMIM:135700123983708539837085CTNC_000012.11:g.39837085C>TClinGen:CA10632675CN043677 Congenital fibrosis of the extraocular muscles;
NM_017641.3(KIF21A):c.-339C>A55605KIF21AUncertain significancers886049352RCV000315474; NMONDO:MONDO:0021083,MedGen:C1851102,OMIM:135700123983711139837111GTNC_000012.11:g.39837111G>TClinGen:CA10632682CN043677 Congenital fibrosis of the extraocular muscles;
NM_017641.3(KIF21A):c.-345G>A55605KIF21AUncertain significancers886049353RCV000362766; NMONDO:MONDO:0021083,MedGen:C1851102,OMIM:135700123983711739837117CTNC_000012.11:g.39837117C>TClinGen:CA10632684CN043677 Congenital fibrosis of the extraocular muscles;
NM_017641.3(KIF21A):c.-392G>C55605KIF21AUncertain significancers886049354RCV000270440; NMONDO:MONDO:0021083,MedGen:C1851102,OMIM:135700123983716439837164CGNC_000012.11:g.39837164C>GClinGen:CA10642116CN043677 Congenital fibrosis of the extraocular muscles;
NM_017641.3(KIF21A):c.-411G>A55605KIF21ABenignrs145372857RCV000327967; NMONDO:MONDO:0021083,MedGen:C1851102,OMIM:135700123983718339837183CTNC_000012.11:g.39837183C>TClinGen:CA10637349CN043677 Congenital fibrosis of the extraocular muscles;
NM_006086.4(TUBB3):c.508G>A (p.Val170Met)10381TUBB3not provided-1RCV001844430; NMONDO:MONDO:0013541,MedGen:C3808397,OMIM:614039, Orphanet:300570; MedGen:CN120300; MONDO:MONDO:0021083,MedGen:C1851102,OMIM:135700; MONDO:MONDO:0010912,MedGen:C2748801,OMIM:600638169000136790001367GA90001367-
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