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Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

MSeqDR Mitochondrial Disease Portal

*:HP: HPO terms, UMDF: 1= Disease, ND: NAMDC terms.
Most Studied CPEO, Complex I Deficiency, COXPD1, Leigh, LHON, MELAS, MERRF, Myopathy, SANDO

Disease Browser
Parent Node: Eye Diseases, Hereditary (D015785)
Parent Node: Fibrosis (D005355)
Parent Node: Ocular Motility Disorders (D015835)
..Starting node ..Fibrosis of Extraocular Muscles, Congenital, 3B (C567739)
Child Nodes:
Sister Nodes:
..Athabaskan brainstem dysgenesis (C535397)
..Diffuse Lewy Body Disease with Gaze Palsy (C565077)
..Duane Retraction Syndrome (D004370) 2
..Fibrosis Of Extraocular Muscles, Congenital, 3A, with or without Extraocular Involvement (C567572)
..Fibrosis of Extraocular Muscles, Congenital, 3B (C567739)
..Fibrosis of Extraocular Muscles, Congenital, 3C (C567666)
..Fibrosis of Extraocular Muscles, Congenital, with Synergistic Divergence (C566508)
..Joubert syndrome 3 (C536295)
..Joubert syndrome 5 (C537688)
..Joubert syndrome 6 (C537689)
..Joubert Syndrome 7 (C566916)
..Levator-Medial Rectus Synkinesis (C563625)
..Mental Retardation, X-Linked, Syndromic, Christianson Type (C567484)
..Miller Fisher Syndrome (D019846)
..NEURODEGENERATION WITH ATAXIA, DYSTONIA, AND GAZE PALSY, CHILDHOOD-ONSET (OMIM:617145)
..Nystagmus, Pathologic (D009759) 25
..Oculomotor Nerve Diseases (D015840) 4
..Ophthalmoplegia (D009886) 41 C:9
..Opsoclonus-Myoclonus Syndrome (D053578) 1
..Paroxysmal Tonic Upgaze, Benign Childhood, With Ataxia (C566817)
..Setting-Sun Phenomenon, Familial Benign (C563470)
..Strabismus (D013285) 13
..Tolosa-Hunt Syndrome (D020333) 1
..Tukel 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:

Slim Mappings:

Eye disease|Genetic disease (inborn)|Nervous system disease|Pathology (process)

Reference:

MedGen: C567739
MeSH: C567739
OMIM: 135700;
MSeqDR :
Genes: ANO5; KIF21A;

Phenotypes

1	HP:0000006	Autosomal dominant inheritance
2	HP:0001488	Bilateral ptosis
3	HP:0001477	Compensatory chin elevation
4	HP:0001491	Congenital fibrosis of extraocular muscles
5	HP:0000565	Esotropia
6	HP:0000577	Exotropia
7	HP:0012241	Levator palpebrae superioris atrophy
8	HP:0007936	Restrictive external ophthalmoplegia
9	HP:0012242	Superior rectus atrophy

Disease Causing ClinVar Variants

Variation_Name	GeneID	GeneSymbol	ClinicalSignificance	dbSNP	RCVaccession	TestedInGTR	PhenotypeIDs	Chromosome	Start	Stop	HGVS_g	OtherIDs	Disease_ClinVar
NM_001173464.2(KIF21A):c.*1157A>T	55605	KIF21A	Uncertain significance	rs886049330	RCV000389321;	N	MONDO:MONDO:0021083,MedGen:C1851102,OMIM:135700	12	39687069	39687069	NC_000012.11:g.39687069T>A	ClinGen:CA10641098	CN043677 Congenital fibrosis of the extraocular muscles;
NM_001173464.2(KIF21A):c.*1022A>T	55605	KIF21A	Uncertain significance	rs886049331	RCV000276152;	N	MONDO:MONDO:0021083,MedGen:C1851102,OMIM:135700	12	39687204	39687204	NC_000012.11:g.39687204T>A	ClinGen:CA10641099	CN043677 Congenital fibrosis of the extraocular muscles;
NM_001173464.2(KIF21A):c.*1010T>C	55605	KIF21A	Uncertain significance	rs886049332	RCV000326630;	N	MONDO:MONDO:0021083,MedGen:C1851102,OMIM:135700	12	39687216	39687216	NC_000012.11:g.39687216A>G	ClinGen:CA10637307	CN043677 Congenital fibrosis of the extraocular muscles;
NM_001173464.2(KIF21A):c.*935A>G	55605	KIF21A	Uncertain significance	rs886049333	RCV000381215;	N	MONDO:MONDO:0021083,MedGen:C1851102,OMIM:135700	12	39687291	39687291	NC_000012.11:g.39687291T>C	ClinGen:CA10642043	CN043677 Congenital fibrosis of the extraocular muscles;
NM_001173464.2(KIF21A):c.*812T>C	55605	KIF21A	Benign	rs532231850	RCV000346233;	N	MONDO:MONDO:0021083,MedGen:C1851102,OMIM:135700	12	39687414	39687414	12:g.39687414A>G	ClinGen:CA10637308	CN043677 Congenital fibrosis of the extraocular muscles;
NM_001173464.2(KIF21A):c.*707A>G	55605	KIF21A	Benign	rs536139187	RCV000377583;	N	MONDO:MONDO:0021083,MedGen:C1851102,OMIM:135700	12	39687519	39687519	12:g.39687519T>C	ClinGen:CA10632647	CN043677 Congenital fibrosis of the extraocular muscles;
NM_001173464.2(KIF21A):c.*690T>C	55605	KIF21A	Uncertain significance	rs886049336	RCV000400760;	N	MONDO:MONDO:0021083,MedGen:C1851102,OMIM:135700	12	39687536	39687536	12:g.39687536A>G	ClinGen:CA10641102	CN043677 Congenital fibrosis of the extraocular muscles;
NM_001173464.2(KIF21A):c.*645T>G	55605	KIF21A	Benign	rs554887830	RCV000298623;	N	MONDO:MONDO:0021083,MedGen:C1851102,OMIM:135700	12	39687581	39687581	12:g.39687581A>C	ClinGen:CA10642058	CN043677 Congenital fibrosis of the extraocular muscles;
NM_001173464.2(KIF21A):c.*582G>A	55605	KIF21A	Uncertain significance	rs767760567	RCV001113698;	N	MONDO:MONDO:0021083,MedGen:C1851102,OMIM:135700	12	39687644	39687644	12:g.39687644C>T	-
NM_001173464.2(KIF21A):c.*531T>C	55605	KIF21A	Uncertain significance	rs1479577907	RCV001113699;	N	MONDO:MONDO:0021083,MedGen:C1851102,OMIM:135700	12	39687695	39687695	12:g.39687695A>G	-
NM_001173464.2(KIF21A):c.*472A>G	55605	KIF21A	Benign	rs11171674	RCV000334900;	N	MONDO:MONDO:0021083,MedGen:C1851102,OMIM:135700	12	39687754	39687754	12:g.39687754T>C	ClinGen:CA10637309	CN043677 Congenital fibrosis of the extraocular muscles;
NM_001173464.2(KIF21A):c.*451A>G	55605	KIF21A	Uncertain significance	rs183559712	RCV000392819;	N	MONDO:MONDO:0021083,MedGen:C1851102,OMIM:135700	12	39687775	39687775	12:g.39687775T>C	ClinGen:CA10637320	CN043677 Congenital fibrosis of the extraocular muscles;
NM_001173464.2(KIF21A):c.*447A>G	55605	KIF21A	Benign	rs74088336	RCV000299937;	N	MONDO:MONDO:0021083,MedGen:C1851102,OMIM:135700	12	39687779	39687779	NC_000012.11:g.39687779T>C	ClinGen:CA10637323	CN043677 Congenital fibrosis of the extraocular muscles;
NM_001173464.2(KIF21A):c.*418A>G	55605	KIF21A	Benign	rs77242017	RCV000368771;	N	MONDO:MONDO:0021083,MedGen:C1851102,OMIM:135700	12	39687808	39687808	NC_000012.11:g.39687808T>C	ClinGen:CA10632651	CN043677 Congenital fibrosis of the extraocular muscles;
NM_001173464.2(KIF21A):c.*366C>T	55605	KIF21A	Uncertain significance	rs1942069691	RCV001109678;	N	MONDO:MONDO:0021083,MedGen:C1851102,OMIM:135700	12	39687860	39687860	12:g.39687860G>A	-
NM_001173464.2(KIF21A):c.*326T>A	55605	KIF21A	Uncertain significance	rs886049337	RCV000274194;	N	MONDO:MONDO:0021083,MedGen:C1851102,OMIM:135700	12	39687900	39687900	NC_000012.11:g.39687900A>T	ClinGen:CA10641104	CN043677 Congenital fibrosis of the extraocular muscles;
NM_001173464.2(KIF21A):c.*237A>G	55605	KIF21A	Benign	rs11171675	RCV000315285;	N	MONDO:MONDO:0021083,MedGen:C1851102,OMIM:135700	12	39687989	39687989	NC_000012.11:g.39687989T>C	ClinGen:CA10641105	CN043677 Congenital fibrosis of the extraocular muscles;
NM_001173464.2(KIF21A):c.*211C>G	55605	KIF21A	Uncertain significance	rs886049338	RCV000370007;	N	MONDO:MONDO:0021083,MedGen:C1851102,OMIM:135700	12	39688015	39688015	NC_000012.11:g.39688015G>C	ClinGen:CA10641110	CN043677 Congenital fibrosis of the extraocular muscles;
NM_001173464.2(KIF21A):c.*71C>G	55605	KIF21A	Likely benign	rs111409014	RCV001109679;	N	MONDO:MONDO:0021083,MedGen:C1851102,OMIM:135700	12	39688155	39688155	12:g.39688155G>C	-
NM_001173464.2(KIF21A):c.*65G>A	55605	KIF21A	Uncertain significance	rs888970061	RCV001109680;	N	MONDO:MONDO:0021083,MedGen:C1851102,OMIM:135700	12	39688161	39688161	12:g.39688161C>T	-
NM_001173464.2(KIF21A):c.4961G>T (p.Arg1654Leu)	55605	KIF21A	Uncertain significance	rs373406994	RCV000268861;	N	MONDO:MONDO:0021083,MedGen:C1851102,OMIM:135700	12	39688290	39688290	NC_000012.11:g.39688290C>A	ClinGen:CA6510048	CN043677 Congenital fibrosis of the extraocular muscles;
NM_001173464.2(KIF21A):c.4891G>A (p.Ala1631Thr)	55605	KIF21A	Uncertain significance	rs886049339	RCV000326200;	N	MONDO:MONDO:0021083,MedGen:C1851102,OMIM:135700	12	39695322	39695322	NC_000012.11:g.39695322C>T	ClinGen:CA10642059	CN043677 Congenital fibrosis of the extraocular muscles;
NM_001173464.2(KIF21A):c.4814G>A (p.Gly1605Glu)	55605	KIF21A	Uncertain significance	rs1942967439	RCV001111981;	N	MONDO:MONDO:0021083,MedGen:C1851102,OMIM:135700	12	39695399	39695399	12:g.39695399C>T	-
NM_001173464.2(KIF21A):c.4768C>T (p.Leu1590=)	55605	KIF21A	Benign	rs2271477	RCV000383091;	N	MONDO:MONDO:0021083,MedGen:C1851102,OMIM:135700	12	39695445	39695445	NC_000012.11:g.39695445G>A	ClinGen:CA6510091	CN043677 Congenital fibrosis of the extraocular muscles;
NM_001173464.2(KIF21A):c.4602_4606del (p.Thr1535fs)	55605	KIF21A	Uncertain significance	-1	RCV002290343;	N	MONDO:MONDO:0021083,MedGen:C1851102,OMIM:135700	12	39696892	39696896	39696891	-
NM_001173464.2(KIF21A):c.4562T>G (p.Met1521Arg)	55605	KIF21A	Benign	rs142038295	RCV000272319;	N	MONDO:MONDO:0021083,MedGen:C1851102,OMIM:135700	12	39696936	39696936	NC_000012.11:g.39696936A>C	ClinGen:CA6510141	CN043677 Congenital fibrosis of the extraocular muscles;
NM_001173464.2(KIF21A):c.4542C>G (p.Ser1514=)	55605	KIF21A	Benign	rs11171689	RCV000320274\|RCV000971586;	N	MONDO:MONDO:0021083,MedGen:C1851102,OMIM:135700\|MedGen:CN517202	12	39698641	39698641	NC_000012.11:g.39698641G>C	ClinGen:CA6510152	CN043677 Congenital fibrosis of the extraocular muscles;
NM_001173464.2(KIF21A):c.4536T>C (p.Thr1512=)	55605	KIF21A	Benign	rs144103791	RCV000377256\|RCV000903208;	N	MONDO:MONDO:0021083,MedGen:C1851102,OMIM:135700\|MedGen:CN517202	12	39698647	39698647	NC_000012.11:g.39698647A>G	ClinGen:CA6510153	CN043677 Congenital fibrosis of the extraocular muscles;
NM_001173464.2(KIF21A):c.4528A>C (p.Ile1510Leu)	55605	KIF21A	Uncertain significance	rs886049340	RCV000287324;	N	MONDO:MONDO:0021083,MedGen:C1851102,OMIM:135700	12	39698655	39698655	NC_000012.11:g.39698655T>G	ClinGen:CA10641118	CN043677 Congenital fibrosis of the extraocular muscles;
NM_001173464.2(KIF21A):c.4515T>G (p.Ser1505Arg)	55605	KIF21A	Benign	rs62000373	RCV000893947\|RCV001111982;	N	MedGen:CN517202\|MONDO:MONDO:0021083,MedGen:C1851102,OMIM:135700	12	39698668	39698668	12:g.39698668A>C	-
NM_001173464.2(KIF21A):c.4471C>T (p.His1491Tyr)	55605	KIF21A	Uncertain significance	rs748150530	RCV000335321;	N	MONDO:MONDO:0021083,MedGen:C1851102,OMIM:135700	12	39698712	39698712	NC_000012.11:g.39698712G>A	ClinGen:CA6510167	CN043677 Congenital fibrosis of the extraocular muscles;
NM_001173464.2(KIF21A):c.4277C>T (p.Thr1426Met)	55605	KIF21A	Likely benign	rs781214904	RCV000373719;	N	MONDO:MONDO:0021083,MedGen:C1851102,OMIM:135700	12	39703388	39703388	NC_000012.11:g.39703388G>A	ClinGen:CA6510226	CN043677 Congenital fibrosis of the extraocular muscles;
NM_001173464.2(KIF21A):c.4268G>A (p.Arg1423Gln)	55605	KIF21A	Uncertain significance	rs749290916	RCV001112436\|RCV002556197;	N	MONDO:MONDO:0021083,MedGen:C1851102,OMIM:135700\|MeSH:D030342,MedGen:C0950123	12	39703397	39703397	12:g.39703397C>T	-
NM_001173464.2(KIF21A):c.4264A>G (p.Ile1422Val)	55605	KIF21A	Uncertain significance	rs886049341	RCV000281544;	N	MONDO:MONDO:0021083,MedGen:C1851102,OMIM:135700	12	39703401	39703401	NC_000012.11:g.39703401T>C	ClinGen:CA10642067	CN043677 Congenital fibrosis of the extraocular muscles;
NM_001173464.2(KIF21A):c.4044A>G (p.Lys1348=)	55605	KIF21A	Benign	rs201297981	RCV000338655\|RCV000910507;	N	MONDO:MONDO:0021083,MedGen:C1851102,OMIM:135700\|MedGen:CN517202	12	39705271	39705271	NC_000012.11:g.39705271T>C	ClinGen:CA6510296	CN043677 Congenital fibrosis of the extraocular muscles;
NM_001173464.2(KIF21A):c.3968T>C (p.Ile1323Thr)	55605	KIF21A	Uncertain significance	-1	RCV001771718;	N	MONDO:MONDO:0021083,MedGen:C1851102,OMIM:135700	12	39705347	39705347	39705347	-
NM_001173464.2(KIF21A):c.3960-11C>T	55605	KIF21A	Benign	rs201115347	RCV001112437;	N	MONDO:MONDO:0021083,MedGen:C1851102,OMIM:135700	12	39705366	39705366	12:g.39705366G>A	-
NM_001173464.2(KIF21A):c.3959G>A (p.Arg1320Lys)	55605	KIF21A	Benign/Likely benign	rs142879430	RCV000401978;	N	MONDO:MONDO:0021083,MedGen:C1851102,OMIM:135700	12	39709031	39709031	NC_000012.11:g.39709031C>T	ClinGen:CA6510329	CN043677 Congenital fibrosis of the extraocular muscles;
NM_001173464.2(KIF21A):c.3915T>C (p.Asp1305=)	55605	KIF21A	Uncertain significance	rs1944493997	RCV001112438;	N	MONDO:MONDO:0021083,MedGen:C1851102,OMIM:135700	12	39709766	39709766	12:g.39709766A>G	-
NM_001173464.2(KIF21A):c.3887dup (p.Asn1296fs)	55605	KIF21A	Uncertain significance	rs1565724702	RCV000779101;	N	MONDO:MONDO:0021083,MedGen:C1851102,OMIM:135700	12	39711895	39711896	NC_000012.11:g.39711898dup	-
NM_001173464.2(KIF21A):c.3877_3878insTTAAT (p.Ser1293fs)	55605	KIF21A	Uncertain significance	rs1565724893	RCV000779102;	N	MONDO:MONDO:0021083,MedGen:C1851102,OMIM:135700	12	39711905	39711906	NC_000012.11:g.39711906_39711907insTTAAA	-
NM_001173464.2(KIF21A):c.3872C>A (p.Thr1291Asn)	55605	KIF21A	Uncertain significance	rs886049342	RCV000313138;	N	MONDO:MONDO:0021083,MedGen:C1851102,OMIM:135700	12	39711911	39711911	NC_000012.11:g.39711911G>T	ClinGen:CA10641128	CN043677 Congenital fibrosis of the extraocular muscles;
NM_001173464.2(KIF21A):c.3842G>A (p.Arg1281His)	55605	KIF21A	Benign	rs747176706	RCV001113782;	N	MONDO:MONDO:0021083,MedGen:C1851102,OMIM:135700	12	39711941	39711941	12:g.39711941C>T	-
NM_001173464.2(KIF21A):c.3711G>T (p.Glu1237Asp)	55605	KIF21A	Benign	rs75223821	RCV000351593;	N	MONDO:MONDO:0021083,MedGen:C1851102,OMIM:135700	12	39713776	39713776	NC_000012.11:g.39713776C>A	ClinGen:CA6510438	CN043677 Congenital fibrosis of the extraocular muscles;
NM_001173464.2(KIF21A):c.3641C>G (p.Pro1214Arg)	55605	KIF21A	Benign	rs149075970	RCV000406843;	N	MONDO:MONDO:0021083,MedGen:C1851102,OMIM:135700	12	39716500	39716500	NC_000012.11:g.39716500G>C	ClinGen:CA6510462	CN043677 Congenital fibrosis of the extraocular muscles;
NM_001173464.2(KIF21A):c.3554C>T (p.Pro1185Leu)	55605	KIF21A	Uncertain significance	rs1316892081	RCV001113783;	N	MONDO:MONDO:0021083,MedGen:C1851102,OMIM:135700	12	39716587	39716587	12:g.39716587G>A	-
NM_001173464.2(KIF21A):c.3332T>C (p.Val1111Ala)	55605	KIF21A	Benign	rs150294289	RCV000363848\|RCV000904253;	N	MONDO:MONDO:0021083,MedGen:C1851102,OMIM:135700\|MedGen:CN517202	12	39724052	39724052	NC_000012.11:g.39724052A>G	ClinGen:CA6510558	CN043677 Congenital fibrosis of the extraocular muscles;
NM_001173464.2(KIF21A):c.3320-4A>T	55605	KIF21A	Likely benign	rs371915160	RCV000271686\|RCV000939609;	N	MONDO:MONDO:0021083,MedGen:C1851102,OMIM:135700\|MedGen:CN517202	12	39724068	39724068	NC_000012.11:g.39724068T>A	ClinGen:CA6510564	CN043677 Congenital fibrosis of the extraocular muscles;
NM_001173464.2(KIF21A):c.3149A>G (p.Asn1050Ser)	55605	KIF21A	Benign	rs142268373	RCV000310515\|RCV000882518;	N	MONDO:MONDO:0021083,MedGen:C1851102,OMIM:135700\|MedGen:CN517202	12	39725496	39725496	NC_000012.11:g.39725496T>C	ClinGen:CA6510607	CN043677 Congenital fibrosis of the extraocular muscles;
NM_001173464.2(KIF21A):c.3118C>T (p.Leu1040=)	55605	KIF21A	Benign	rs79512568	RCV000358244\|RCV000972080;	N	MONDO:MONDO:0021083,MedGen:C1851102,OMIM:135700\|MedGen:CN517202	12	39725527	39725527	NC_000012.11:g.39725527G>A	ClinGen:CA6510612	CN043677 Congenital fibrosis of the extraocular muscles;
NM_001173464.2(KIF21A):c.3111C>T (p.Ala1037=)	55605	KIF21A	Benign	rs145404005	RCV000265966;	N	MONDO:MONDO:0021083,MedGen:C1851102,OMIM:135700	12	39725534	39725534	NC_000012.11:g.39725534G>A	ClinGen:CA6510614	CN043677 Congenital fibrosis of the extraocular muscles;
NM_001173464.2(KIF21A):c.3082G>A (p.Val1028Ile)	55605	KIF21A	Uncertain significance	rs1946526630	RCV001109763;	N	MONDO:MONDO:0021083,MedGen:C1851102,OMIM:135700	12	39725563	39725563	12:g.39725563C>T	-
NM_001173464.2(KIF21A):c.3029T>C (p.Ile1010Thr)	55605	KIF21A	Pathogenic	rs121912587	RCV000002542;	N	MONDO:MONDO:0021083,MedGen:C1851102,OMIM:135700	12	39726038	39726038	12:g.39726038A>G	ClinGen:CA252283,UniProtKB:Q7Z4S6#VAR_019404,OMIM:608283.0003	C1851102 135700 Fibrosis of extraocular muscles, congenital, 1;
NM_001173464.2(KIF21A):c.2861G>A (p.Arg954Gln)	55605	KIF21A	Pathogenic	rs121912586	RCV000002541\|RCV000002540\|RCV002254900;	N	MONDO:MONDO:0800209,MedGen:C2751105\|MONDO:MONDO:0021083,MedGen:C1851102,OMIM:135700\|MedGen:CN517202	12	39726206	39726206	12:g.39726206C>T	ClinGen:CA115555,UniProtKB:Q7Z4S6#VAR_019402,OMIM:608283.0002	C1851102 135700 Fibrosis of extraocular muscles, congenital, 1;
NM_001173464.2(KIF21A):c.2860C>T (p.Arg954Trp)	55605	KIF21A	Pathogenic	rs121912585	RCV000002538\|RCV000002539\|RCV000267056;	N	MONDO:MONDO:0021083,MedGen:C1851102,OMIM:135700\|MONDO:MONDO:0800209,MedGen:C2751105\|MedGen:CN517202	12	39726207	39726207	12:g.39726207G>A	ClinGen:CA115554,UniProtKB:Q7Z4S6#VAR_019403,OMIM:608283.0001	C1851102 135700 Fibrosis of extraocular muscles, congenital, 1;
NM_001173464.2(KIF21A):c.2840T>G (p.Met947Arg)	55605	KIF21A	Pathogenic	rs121912590	RCV000002545;	N	MONDO:MONDO:0021083,MedGen:C1851102,OMIM:135700	12	39726409	39726409	12:g.39726409A>C	ClinGen:CA252285,UniProtKB:Q7Z4S6#VAR_019400,OMIM:608283.0006	C1851102 135700 Fibrosis of extraocular muscles, congenital, 1;
NM_001173464.2(KIF21A):c.2839A>G (p.Met947Val)	55605	KIF21A	Pathogenic	rs121912589	RCV000002544;	N	MONDO:MONDO:0021083,MedGen:C1851102,OMIM:135700	12	39726410	39726410	12:g.39726410T>C	ClinGen:CA252284,UniProtKB:Q7Z4S6#VAR_019401,OMIM:608283.0005	C1851102 135700 Fibrosis of extraocular muscles, congenital, 1;
NM_001173464.2(KIF21A):c.2798T>A (p.Ile933Asn)	55605	KIF21A	Uncertain significance	rs886049343	RCV000323422;	N	MONDO:MONDO:0021083,MedGen:C1851102,OMIM:135700	12	39726451	39726451	NC_000012.11:g.39726451A>T	ClinGen:CA10642076	CN043677 Congenital fibrosis of the extraocular muscles;
NM_001173464.2(KIF21A):c.2782C>T (p.Arg928Cys)	55605	KIF21A	Uncertain significance	rs749644826	RCV000361240;	N	MONDO:MONDO:0021083,MedGen:C1851102,OMIM:135700	12	39726467	39726467	NC_000012.11:g.39726467G>A	ClinGen:CA6510695	CN043677 Congenital fibrosis of the extraocular muscles;
NM_001173464.2(KIF21A):c.2744T>C (p.Ile915Thr)	55605	KIF21A	Uncertain significance	rs886049344	RCV000259437;	N	MONDO:MONDO:0021083,MedGen:C1851102,OMIM:135700	12	39726505	39726505	NC_000012.11:g.39726505A>G	ClinGen:CA10637329	CN043677 Congenital fibrosis of the extraocular muscles;
NM_001173464.2(KIF21A):c.2684C>T (p.Pro895Leu)	55605	KIF21A	Benign	rs149718388	RCV000894861\|RCV001109764;	N	MedGen:CN517202\|MONDO:MONDO:0021083,MedGen:C1851102,OMIM:135700	12	39726713	39726713	12:g.39726713G>A	-
NM_001173464.2(KIF21A):c.2660C>T (p.Ala887Val)	55605	KIF21A	Benign	rs145318959	RCV001109765;	N	MONDO:MONDO:0021083,MedGen:C1851102,OMIM:135700	12	39726737	39726737	12:g.39726737G>A	-
NM_001173464.2(KIF21A):c.2541A>G (p.Lys847=)	55605	KIF21A	Benign	rs145897823	RCV000316988\|RCV000883755;	N	MONDO:MONDO:0021083,MedGen:C1851102,OMIM:135700\|MedGen:CN517202	12	39726856	39726856	NC_000012.11:g.39726856T>C	ClinGen:CA6510760	CN043677 Congenital fibrosis of the extraocular muscles;
NM_001173464.2(KIF21A):c.2535T>A (p.Ala845=)	55605	KIF21A	Uncertain significance	rs148166854	RCV000373906;	N	MONDO:MONDO:0021083,MedGen:C1851102,OMIM:135700	12	39726862	39726862	NC_000012.11:g.39726862A>T	ClinGen:CA6510764	CN043677 Congenital fibrosis of the extraocular muscles;
NM_001173464.2(KIF21A):c.2503C>T (p.Arg835Trp)	55605	KIF21A	Uncertain significance	rs1458182449	RCV001110552;	N	MONDO:MONDO:0021083,MedGen:C1851102,OMIM:135700	12	39726894	39726894	12:g.39726894G>A	-
NM_001173464.2(KIF21A):c.2492C>T (p.Thr831Met)	55605	KIF21A	Likely benign	rs764601859	RCV000281670;	N	MONDO:MONDO:0021083,MedGen:C1851102,OMIM:135700	12	39726905	39726905	NC_000012.11:g.39726905G>A	ClinGen:CA6510771	CN043677 Congenital fibrosis of the extraocular muscles;
NM_001173464.2(KIF21A):c.2492C>G (p.Thr831Arg)	55605	KIF21A	Uncertain significance	rs764601859	RCV001110553;	N	MONDO:MONDO:0021083,MedGen:C1851102,OMIM:135700	12	39726905	39726905	12:g.39726905G>C	-
NM_001173464.2(KIF21A):c.2487+5A>T	55605	KIF21A	Benign	rs376142046	RCV000329721;	N	MONDO:MONDO:0021083,MedGen:C1851102,OMIM:135700	12	39727009	39727009	NC_000012.11:g.39727009T>A	ClinGen:CA6510780	CN043677 Congenital fibrosis of the extraocular muscles;
NM_001173464.2(KIF21A):c.2431C>T (p.Leu811Phe)	55605	KIF21A	Uncertain significance	rs779688115	RCV000386473;	N	MONDO:MONDO:0021083,MedGen:C1851102,OMIM:135700	12	39727070	39727070	NC_000012.11:g.39727070G>A	ClinGen:CA6510787	CN043677 Congenital fibrosis of the extraocular muscles;
NM_001173464.2(KIF21A):c.2418+2T>C	55605	KIF21A	Uncertain significance	rs1565839016	RCV000779103;	N	MONDO:MONDO:0021083,MedGen:C1851102,OMIM:135700	12	39730896	39730896	NC_000012.11:g.39730896A>G	-
NM_001173464.2(KIF21A):c.2310+10A>G	55605	KIF21A	Benign	rs201113357	RCV000294581;	N	MONDO:MONDO:0021083,MedGen:C1851102,OMIM:135700	12	39733957	39733957	NC_000012.11:g.39733957T>C	ClinGen:CA6510847	CN043677 Congenital fibrosis of the extraocular muscles;
NM_001173464.2(KIF21A):c.2305A>G (p.Thr769Ala)	55605	KIF21A	Benign	rs200645253	RCV000352193;	N	MONDO:MONDO:0021083,MedGen:C1851102,OMIM:135700	12	39733972	39733972	12:g.39733972T>C	ClinGen:CA6510851	CN043677 Congenital fibrosis of the extraocular muscles;
NM_001173464.2(KIF21A):c.1899A>G (p.Ser633=)	55605	KIF21A	Uncertain significance	rs1947443550	RCV001112531;	N	MONDO:MONDO:0021083,MedGen:C1851102,OMIM:135700	12	39735329	39735329	12:g.39735329T>C	-
NM_001173464.2(KIF21A):c.1886G>T (p.Ser629Ile)	55605	KIF21A	Benign	rs765856120	RCV000399984;	N	MONDO:MONDO:0021083,MedGen:C1851102,OMIM:135700	12	39735342	39735342	12:g.39735342C>A	ClinGen:CA6510910	CN043677 Congenital fibrosis of the extraocular muscles;
NM_001173464.2(KIF21A):c.1880G>T (p.Gly627Val)	55605	KIF21A	Benign	rs79089655	RCV000289132\|RCV001701946;	N	MONDO:MONDO:0021083,MedGen:C1851102,OMIM:135700\|MedGen:CN169374	12	39735348	39735348	12:g.39735348C>A	ClinGen:CA6510911	CN043677 Congenital fibrosis of the extraocular muscles;
NM_001173464.2(KIF21A):c.1851G>A (p.Glu617=)	55605	KIF21A	Likely benign	rs147473938	RCV000941793\|RCV001112532;	N	MedGen:CN517202\|MONDO:MONDO:0021083,MedGen:C1851102,OMIM:135700	12	39735377	39735377	12:g.39735377C>T	-
NM_001173464.2(KIF21A):c.1804-15C>T	55605	KIF21A	Benign	rs376342352	RCV001112533;	N	MONDO:MONDO:0021083,MedGen:C1851102,OMIM:135700	12	39735439	39735439	12:g.39735439G>A	-
NM_001173464.2(KIF21A):c.1776G>A (p.Ser592=)	55605	KIF21A	Benign	rs143782701	RCV000346454;	N	MONDO:MONDO:0021083,MedGen:C1851102,OMIM:135700	12	39735863	39735863	12:g.39735863C>T	ClinGen:CA6510936	CN043677 Congenital fibrosis of the extraocular muscles;
NM_001173464.2(KIF21A):c.1713-11C>G	55605	KIF21A	Benign	rs142304324	RCV000390001;	N	MONDO:MONDO:0021083,MedGen:C1851102,OMIM:135700	12	39735937	39735937	12:g.39735937G>C	ClinGen:CA6510954	CN043677 Congenital fibrosis of the extraocular muscles;
NM_001173464.2(KIF21A):c.1674-1G>A	55605	KIF21A	Uncertain significance	-1	RCV002290127;	N	MONDO:MONDO:0021083,MedGen:C1851102,OMIM:135700	12	39740307	39740307	39740307	-
NM_001173464.2(KIF21A):c.1628A>G (p.Lys543Arg)	55605	KIF21A	Benign/Likely benign	rs149219011	RCV000302061\|RCV000954280;	N	MONDO:MONDO:0021083,MedGen:C1851102,OMIM:135700\|MedGen:CN517202	12	39745624	39745624	12:g.39745624T>C	ClinGen:CA6510978	CN043677 Congenital fibrosis of the extraocular muscles;
NM_001173464.2(KIF21A):c.1542G>A (p.Ala514=)	55605	KIF21A	Likely benign	rs199973182	RCV000359150\|RCV000899267;	N	MONDO:MONDO:0021083,MedGen:C1851102,OMIM:135700\|MedGen:CN517202	12	39745710	39745710	12:g.39745710C>T	ClinGen:CA6510987	CN043677 Congenital fibrosis of the extraocular muscles;
NM_001173464.2(KIF21A):c.1469+10A>G	55605	KIF21A	Benign	rs73266501	RCV000390994\|RCV000967261;	N	MONDO:MONDO:0021083,MedGen:C1851102,OMIM:135700\|MedGen:CN517202	12	39750624	39750624	12:g.39750624T>C	ClinGen:CA6511018	CN043677 Congenital fibrosis of the extraocular muscles;
NM_001173464.2(KIF21A):c.1458C>A (p.Ile486=)	55605	KIF21A	Benign	rs200512673	RCV001113864;	N	MONDO:MONDO:0021083,MedGen:C1851102,OMIM:135700	12	39750645	39750645	12:g.39750645G>T	-
NM_001173464.2(KIF21A):c.1335G>T (p.Thr445=)	55605	KIF21A	Benign	rs61740919	RCV000297512\|RCV000959264;	N	MONDO:MONDO:0021083,MedGen:C1851102,OMIM:135700\|MedGen:CN517202	12	39751120	39751120	NC_000012.11:g.39751120C>A	ClinGen:CA6511062	CN043677 Congenital fibrosis of the extraocular muscles;
NM_001173464.2(KIF21A):c.1321G>A (p.Ala441Thr)	55605	KIF21A	Uncertain significance	rs886049345	RCV000354754;	N	MONDO:MONDO:0021083,MedGen:C1851102,OMIM:135700	12	39751134	39751134	NC_000012.11:g.39751134C>T	ClinGen:CA10637334	CN043677 Congenital fibrosis of the extraocular muscles;
NM_001173464.2(KIF21A):c.1279A>G (p.Met427Val)	55605	KIF21A	Uncertain significance	rs375541289	RCV001113865;	N	MONDO:MONDO:0021083,MedGen:C1851102,OMIM:135700	12	39751176	39751176	12:g.39751176T>C	-
NM_001173464.2(KIF21A):c.1240G>C (p.Gly414Arg)	55605	KIF21A	Benign/Likely benign	rs78616703	RCV000262273\|RCV000894701;	N	MONDO:MONDO:0021083,MedGen:C1851102,OMIM:135700\|MedGen:CN517202	12	39751215	39751215	NC_000012.11:g.39751215C>G	ClinGen:CA6511073	CN043677 Congenital fibrosis of the extraocular muscles;
NM_001173464.2(KIF21A):c.1160A>G (p.Asn387Ser)	55605	KIF21A	Benign	rs745692702	RCV000319726\|RCV000903904;	N	MONDO:MONDO:0021083,MedGen:C1851102,OMIM:135700\|MedGen:CN517202	12	39752035	39752035	NC_000012.11:g.39752035T>C	ClinGen:CA6511100	CN043677 Congenital fibrosis of the extraocular muscles;
NM_001173464.2(KIF21A):c.1104T>G (p.Ala368=)	55605	KIF21A	Benign	rs187327535	RCV001109847;	N	MONDO:MONDO:0021083,MedGen:C1851102,OMIM:135700	12	39752091	39752091	12:g.39752091A>C	-
NM_001173464.2(KIF21A):c.1067T>C (p.Met356Thr)	55605	KIF21A	Pathogenic	rs121912588	RCV000002543;	N	MONDO:MONDO:0021083,MedGen:C1851102,OMIM:135700	12	39752128	39752128	12:g.39752128A>G	ClinGen:CA339982,UniProtKB:Q7Z4S6#VAR_019399,OMIM:608283.0004	C1851102 135700 Fibrosis of extraocular muscles, congenital, 1;
NM_001173464.2(KIF21A):c.1038A>G (p.Ala346=)	55605	KIF21A	Benign/Likely benign	rs148354450	RCV000926480\|RCV001109848;	N	MedGen:CN517202\|MONDO:MONDO:0021083,MedGen:C1851102,OMIM:135700	12	39752157	39752157	12:g.39752157T>C	-
NM_001173464.2(KIF21A):c.975T>C (p.Asp325=)	55605	KIF21A	Benign	rs143790968	RCV000367512\|RCV000906309;	N	MONDO:MONDO:0021083,MedGen:C1851102,OMIM:135700\|MedGen:CN517202	12	39756944	39756944	NC_000012.11:g.39756944A>G	ClinGen:CA6511147	CN043677 Congenital fibrosis of the extraocular muscles;
NM_001173464.2(KIF21A):c.903T>A (p.Leu301=)	55605	KIF21A	Benign	rs78806233	RCV000275294\|RCV000885359;	N	MONDO:MONDO:0021083,MedGen:C1851102,OMIM:135700\|MedGen:CN517202	12	39760152	39760152	NC_000012.11:g.39760152A>T	ClinGen:CA6511175	CN043677 Congenital fibrosis of the extraocular muscles;
NM_001173464.2(KIF21A):c.825C>T (p.Leu275=)	55605	KIF21A	Uncertain significance	rs143876096	RCV000332722;	N	MONDO:MONDO:0021083,MedGen:C1851102,OMIM:135700	12	39760230	39760230	NC_000012.11:g.39760230G>A	ClinGen:CA6511184	CN043677 Congenital fibrosis of the extraocular muscles;
NM_001173464.2(KIF21A):c.681T>C (p.His227=)	55605	KIF21A	Uncertain significance	rs753495640	RCV001109849;	N	MONDO:MONDO:0021083,MedGen:C1851102,OMIM:135700	12	39760886	39760886	12:g.39760886A>G	-
NM_001173464.2(KIF21A):c.608A>G (p.Gln203Arg)	55605	KIF21A	Benign	rs149328427	RCV000389659;	N	MONDO:MONDO:0021083,MedGen:C1851102,OMIM:135700	12	39760959	39760959	NC_000012.11:g.39760959T>C	ClinGen:CA6511215	CN043677 Congenital fibrosis of the extraocular muscles;
NM_001173464.2(KIF21A):c.578G>A (p.Arg193His)	55605	KIF21A	Benign	rs770064077	RCV000287713;	N	MONDO:MONDO:0021083,MedGen:C1851102,OMIM:135700	12	39761707	39761707	NC_000012.11:g.39761707C>T	ClinGen:CA6511235	CN043677 Congenital fibrosis of the extraocular muscles;
NM_001173464.2(KIF21A):c.568G>A (p.Val190Ile)	55605	KIF21A	Likely benign	rs141530856	RCV001110639;	N	MONDO:MONDO:0021083,MedGen:C1851102,OMIM:135700	12	39761717	39761717	12:g.39761717C>T	-
NM_001173464.2(KIF21A):c.268-14G>T	55605	KIF21A	Uncertain significance	rs762377796	RCV000326294;	N	MONDO:MONDO:0021083,MedGen:C1851102,OMIM:135700	12	39763727	39763727	NC_000012.11:g.39763727C>A	ClinGen:CA10642097	CN043677 Congenital fibrosis of the extraocular muscles;
NM_001173464.2(KIF21A):c.197T>C (p.Ile66Thr)	55605	KIF21A	Uncertain significance	rs1227646139	RCV001110640;	N	MONDO:MONDO:0021083,MedGen:C1851102,OMIM:135700	12	39763911	39763911	12:g.39763911A>G	-
NM_001173464.2(KIF21A):c.162A>G (p.Val54=)	55605	KIF21A	Likely benign	rs754537818	RCV000383189;	N	MONDO:MONDO:0021083,MedGen:C1851102,OMIM:135700	12	39763946	39763946	NC_000012.11:g.39763946T>C	ClinGen:CA6511323	CN043677 Congenital fibrosis of the extraocular muscles;
NM_001173464.2(KIF21A):c.44+15C>G	55605	KIF21A	Uncertain significance	rs1478935702	RCV001110641;	N	MONDO:MONDO:0021083,MedGen:C1851102,OMIM:135700	12	39836714	39836714	12:g.39836714G>C	-
NM_001173464.2(KIF21A):c.44+5G>A	55605	KIF21A	Uncertain significance	rs986920207	RCV001110642;	N	MONDO:MONDO:0021083,MedGen:C1851102,OMIM:135700	12	39836724	39836724	12:g.39836724C>T	-
NM_001173464.2(KIF21A):c.10G>A (p.Ala4Thr)	55605	KIF21A	Uncertain significance	-1	RCV002288383;	N	MONDO:MONDO:0021083,MedGen:C1851102,OMIM:135700	12	39836763	39836763	39836763	-
NM_001173464.2(KIF21A):c.-19A>G	55605	KIF21A	Benign	rs139423015	RCV000291144;	N	MONDO:MONDO:0021083,MedGen:C1851102,OMIM:135700	12	39836791	39836791	NC_000012.11:g.39836791T>C	ClinGen:CA6511359	CN043677 Congenital fibrosis of the extraocular muscles;
NM_001173464.2(KIF21A):c.-31C>T	55605	KIF21A	Benign	rs554379231	RCV000339041;	N	MONDO:MONDO:0021083,MedGen:C1851102,OMIM:135700	12	39836803	39836803	NC_000012.11:g.39836803G>A	ClinGen:CA6511360	CN043677 Congenital fibrosis of the extraocular muscles;
NM_001173464.2(KIF21A):c.-41G>A	55605	KIF21A	Uncertain significance	rs886049346	RCV000398354;	N	MONDO:MONDO:0021083,MedGen:C1851102,OMIM:135700	12	39836813	39836813	NC_000012.11:g.39836813C>T	ClinGen:CA10642103	CN043677 Congenital fibrosis of the extraocular muscles;
NM_001173464.2(KIF21A):c.-146G>A	55605	KIF21A	Uncertain significance	rs886049347	RCV000285220;	N	MONDO:MONDO:0021083,MedGen:C1851102,OMIM:135700	12	39836918	39836918	NC_000012.11:g.39836918C>T	ClinGen:CA10642108	CN043677 Congenital fibrosis of the extraocular muscles;
NM_001173464.2(KIF21A):c.-147C>A	55605	KIF21A	Uncertain significance	rs886049348	RCV000342480;	N	MONDO:MONDO:0021083,MedGen:C1851102,OMIM:135700	12	39836919	39836919	NC_000012.11:g.39836919G>T	ClinGen:CA10632667	CN043677 Congenital fibrosis of the extraocular muscles;
NM_017641.3(KIF21A):c.-165G>T	55605	KIF21A	Benign	rs111306046	RCV000400345;	N	MONDO:MONDO:0021083,MedGen:C1851102,OMIM:135700	12	39836937	39836937	NC_000012.11:g.39836937C>A	ClinGen:CA10637343	CN043677 Congenital fibrosis of the extraocular muscles;
NM_017641.3(KIF21A):c.-195A>G	55605	KIF21A	Benign	rs532130145	RCV000299080;	N	MONDO:MONDO:0021083,MedGen:C1851102,OMIM:135700	12	39836967	39836967	NC_000012.11:g.39836967T>C	ClinGen:CA10637344	CN043677 Congenital fibrosis of the extraocular muscles;
NM_017641.3(KIF21A):c.-203C>G	55605	KIF21A	Uncertain significance	rs886049349	RCV000356285;	N	MONDO:MONDO:0021083,MedGen:C1851102,OMIM:135700	12	39836975	39836975	NC_000012.11:g.39836975G>C	ClinGen:CA10632668	CN043677 Congenital fibrosis of the extraocular muscles;
NM_017641.3(KIF21A):c.-210C>T	55605	KIF21A	Benign	rs113038492	RCV000392657;	N	MONDO:MONDO:0021083,MedGen:C1851102,OMIM:135700	12	39836982	39836982	NC_000012.11:g.39836982G>A	ClinGen:CA10641146	CN043677 Congenital fibrosis of the extraocular muscles;
NM_017641.3(KIF21A):c.-240G>C	55605	KIF21A	Benign	rs562588358	RCV001112621;	N	MONDO:MONDO:0021083,MedGen:C1851102,OMIM:135700	12	39837012	39837012	12:g.39837012C>G	-
NM_017641.3(KIF21A):c.-245C>T	55605	KIF21A	Uncertain significance	rs886049350	RCV000312049;	N	MONDO:MONDO:0021083,MedGen:C1851102,OMIM:135700	12	39837017	39837017	NC_000012.11:g.39837017G>A	ClinGen:CA10632674	CN043677 Congenital fibrosis of the extraocular muscles;
NM_017641.3(KIF21A):c.-257C>A	55605	KIF21A	Benign	rs529777052	RCV001113966;	N	MONDO:MONDO:0021083,MedGen:C1851102,OMIM:135700	12	39837029	39837029	12:g.39837029G>T	-
NM_017641.3(KIF21A):c.-313G>A	55605	KIF21A	Benign	rs11835359	RCV000369031;	N	MONDO:MONDO:0021083,MedGen:C1851102,OMIM:135700	12	39837085	39837085	NC_000012.11:g.39837085C>T	ClinGen:CA10632675	CN043677 Congenital fibrosis of the extraocular muscles;
NM_017641.3(KIF21A):c.-339C>A	55605	KIF21A	Uncertain significance	rs886049352	RCV000315474;	N	MONDO:MONDO:0021083,MedGen:C1851102,OMIM:135700	12	39837111	39837111	NC_000012.11:g.39837111G>T	ClinGen:CA10632682	CN043677 Congenital fibrosis of the extraocular muscles;
NM_017641.3(KIF21A):c.-345G>A	55605	KIF21A	Uncertain significance	rs886049353	RCV000362766;	N	MONDO:MONDO:0021083,MedGen:C1851102,OMIM:135700	12	39837117	39837117	NC_000012.11:g.39837117C>T	ClinGen:CA10632684	CN043677 Congenital fibrosis of the extraocular muscles;
NM_017641.3(KIF21A):c.-392G>C	55605	KIF21A	Uncertain significance	rs886049354	RCV000270440;	N	MONDO:MONDO:0021083,MedGen:C1851102,OMIM:135700	12	39837164	39837164	NC_000012.11:g.39837164C>G	ClinGen:CA10642116	CN043677 Congenital fibrosis of the extraocular muscles;
NM_017641.3(KIF21A):c.-411G>A	55605	KIF21A	Benign	rs145372857	RCV000327967;	N	MONDO:MONDO:0021083,MedGen:C1851102,OMIM:135700	12	39837183	39837183	NC_000012.11:g.39837183C>T	ClinGen:CA10637349	CN043677 Congenital fibrosis of the extraocular muscles;
NM_006086.4(TUBB3):c.508G>A (p.Val170Met)	10381	TUBB3	not provided	-1	RCV001844430;	N	MONDO:MONDO:0010912,MedGen:C2748801,OMIM:600638; MedGen:CN120300; MONDO:MONDO:0021083,MedGen:C1851102,OMIM:135700; MONDO:MONDO:0013541,MedGen:C3808397,OMIM:614039, Orphanet:300570	16	90001367	90001367	90001367	-

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