MSeqDR Mitochondrial Disease Portal


 
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Choroid Diseases (D015862)
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Eye Diseases, Hereditary (D015785)
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Retinal Degeneration (D012162)
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Vitreoretinochoroidopathy (C536352)

       Child Nodes:



 Sister Nodes: 
..expandCohen syndrome (C536438)
..expandEncephalopathy with Intracranial Calcification, Growth Hormone Deficiency, Microcephaly, and Retinal Degeneration (C565594)
..expandEnhanced S-Cone Syndrome (C564835)
..expandHyaloideoretinal degeneration of Wagner (C536075)
..expandINFANTILE CEREBELLAR-RETINAL DEGENERATION (OMIM:614559)  LSDB  L: 00108;
..expandJoubert syndrome 4 (C536296)
..expandKnobloch syndrome (C537209)
..expandLate-Onset Retinal Degeneration (C565309)
..expandLattice Degeneration of Retina Leading to Retinal Detachment (C563633)
..expandMacKay Shek Carr syndrome (C538364)
..expandMacular Degeneration (D008268) Child28
..expandMicrophthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies (C566884)
..expandMYOPIA, HIGH, WITH CATARACT AND VITREORETINAL DEGENERATION (OMIM:614292)
..expandNoble Bass Sherman syndrome (C536124)
..expandNorrie disease (C537849)
..expandPigmented Paravenous Chorioretinal Atrophy (C566801)
..expandRetinal Cone Dystrophy 1 (C566719)
..expandRetinal Degeneration and Epilepsy (C564847)
..expandRetinal Degeneration, Autosomal Recessive, Clumped Pigment Type (C563527)
..expandRetinal Drusen (D015593) Child2
..expandRetinal Dystrophies (D058499) Child143  LSDB C:2
..expandRetinoschisis (D041441) Child1
..expandSnowflake vitreoretinal degeneration (C536677)
..expandSpastic paraplegia 15, autosomal recessive (C536642)
..expandSTICKLER SYNDROME, TYPE IV (OMIM:614134)
..expandSTICKLER SYNDROME, TYPE V (OMIM:614284)
..expandSveinsson Chorioretinal Atrophy (C566236)
..expandVitreoretinochoroidopathy (C536352)
   

Human Disease MESH is developed by UMLS.
Further data from MedGen, OMIM,ClinVar, CTD
Term ID:12736
Name:Vitreoretinochoroidopathy
Definition:
Alternative IDs:OMIM:193220
ParentIDs:MESH:D012162|MESH:D015785|MESH:D015862
TreeNumbers:C11.270.612/C536352 |C11.270/C536352 |C11.768.585/C536352 |C11.941.160/C536352 |C16.320.290/C536352
Synonyms:ADVIRC |Autosomal dominant Vitreoretinochoroidopathy |Microcornea, Rod-Cone Dystrophy, Cataract, And Posterior Staphyloma |MRCS, INCLUDED |Vitreoretinochoroidopathy, Autosomal Dominant |Vitreoretinochoroidopathy, Autosomal Dominant, With Nanophthalmos |VITREOR
Slim Mappings:Eye disease|Genetic disease (inborn)
Reference: MedGen: C536352
MeSH: C536352
OMIM: 193220;
MSeqDR LSDB:  
Genes: BEST1;
Phenotypes
1 HP:0000006Autosomal dominant inheritance
2 HP:0007661Abnormality of chorioretinal pigmentation
3 HP:0000551Abnormality of color vision
4 HP:0007641DyschromatopsiaHP:0040283
5 HP:0000501Glaucoma
6 HP:0000482Microcornea
7 HP:0000568MicrophthalmiaHP:0040283
8 HP:0000662Nyctalopia
9 HP:0000639Nystagmus
10 HP:0000580Pigmentary retinopathy
NAMDC:  Pigmentary retinopathy
11 HP:0010693Pulverulent cataract
12 HP:0008043Retinal arteriolar constriction
13 HP:0007985Retinal arteriolar occlusion
14 HP:0000541Retinal detachment
15 HP:0000486Strabismus
16 HP:0007902Vitreous hemorrhage
Disease Causing ClinVar Variants
Variation_NameGeneIDGeneSymbolClinicalSignificancedbSNPRCVaccessionTestedInGTRPhenotypeIDsChromosomeStartStopHGVS_cHGVS_pHGVS_gOtherIDsDisease_ClinVar
NM_001363592.1(BEST1):c.-536T>C7439BEST1Likely benignrs137965157RCV000292643|RCV000331203|RCV000375228; NMedGen:CN239466|MONDO:MONDO:0008662,MedGen:C3888099,OMIM:193220, Orphanet:263347, Orphanet:3086|MONDO:MONDO:0007931,MedGen:C2745945,OMIM:153700, Orphanet:1243116171740061717400TCNC_000011.9:g.61717400T>CClinGen:CA10638845CN239466 Retinitis Pigmentosa, Recessive;
NM_001363592.1(BEST1):c.-428C>T7439BEST1Likely benignrs77151527RCV000296219|RCV000345329|RCV000388175; NMONDO:MONDO:0007931,MedGen:C2745945,OMIM:153700, Orphanet:1243|MONDO:MONDO:0008662,MedGen:C3888099,OMIM:193220, Orphanet:263347, Orphanet:3086|MedGen:CN239466116171750861717508CTNC_000011.9:g.61717508C>TClinGen:CA10638846CN239466 Retinitis Pigmentosa, Recessive;
NM_001363592.1(BEST1):c.-373T>A7439BEST1Likely benignrs117165769RCV000291450|RCV000339384|RCV000400786; NMONDO:MONDO:0007931,MedGen:C2745945,OMIM:153700, Orphanet:1243|MedGen:CN239466|MONDO:MONDO:0008662,MedGen:C3888099,OMIM:193220, Orphanet:263347, Orphanet:3086116171756361717563TANC_000011.9:g.61717563T>AClinGen:CA10638853CN239466 Retinitis Pigmentosa, Recessive;
NM_001363592.1(BEST1):c.-329C>T7439BEST1Benignrs972354RCV000304307|RCV000361256|RCV000392337|RCV001653503; NMONDO:MONDO:0007931,MedGen:C2745945,OMIM:153700, Orphanet:1243|MONDO:MONDO:0008662,MedGen:C3888099,OMIM:193220, Orphanet:263347, Orphanet:3086|MedGen:CN239466|MedGen:CN517202116171760761717607CTNC_000011.9:g.61717607C>TClinGen:CA10631078CN239466 Retinitis Pigmentosa, Recessive;
NM_001363592.1(BEST1):c.-221T>C7439BEST1Benignrs972353RCV000298197|RCV000355356|RCV000392227|RCV001690012; NMONDO:MONDO:0007931,MedGen:C2745945,OMIM:153700, Orphanet:1243|MedGen:CN239466|MONDO:MONDO:0008662,MedGen:C3888099,OMIM:193220, Orphanet:263347, Orphanet:3086|MedGen:CN517202116171771561717715TCNC_000011.9:g.61717715T>CClinGen:CA10635119CN239466 Retinitis Pigmentosa, Recessive;
NM_001363592.1(BEST1):c.-125G>A7439BEST1Uncertain significancers886048424RCV000262982|RCV000329855|RCV000367924; NMONDO:MONDO:0008662,MedGen:C3888099,OMIM:193220, Orphanet:263347, Orphanet:3086|MONDO:MONDO:0007931,MedGen:C2745945,OMIM:153700, Orphanet:1243|MedGen:CN239466116171781161717811GANC_000011.9:g.61717811G>AClinGen:CA10639482CN239466 Retinitis Pigmentosa, Recessive;
NM_001363592.1(BEST1):c.-121C>T7439BEST1Uncertain significancers562849665RCV000275933|RCV000333312|RCV000380849; NMONDO:MONDO:0008662,MedGen:C3888099,OMIM:193220, Orphanet:263347, Orphanet:3086|MONDO:MONDO:0007931,MedGen:C2745945,OMIM:153700, Orphanet:1243|MedGen:CN239466116171781561717815CTNC_000011.9:g.61717815C>TClinGen:CA10635121CN239466 Retinitis Pigmentosa, Recessive;
NM_004183.4(BEST1):c.-66G>T7439BEST1Uncertain significancers886048425RCV000289571|RCV000328286|RCV000385017; NMONDO:MONDO:0007931,MedGen:C2745945,OMIM:153700, Orphanet:1243|MONDO:MONDO:0008662,MedGen:C3888099,OMIM:193220, Orphanet:263347, Orphanet:3086|Human Phenotype Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000,Or116171787061717870GTNC_000011.9:g.61717870G>TClinGen:CA10631079CN239466 Retinitis Pigmentosa, Recessive;
NM_004183.4(BEST1):c.109T>C (p.Leu37=)7439BEST1Benignrs1800007RCV000086084|RCV000152861|RCV000283689|RCV000341149|RCV000398665|RCV001554221|RCV001554220; NMedGen:CN517202|MedGen:CN169374|Human Phenotype Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000, Orphanet:791|MONDO:MONDO:0008662,MedGen:C3888099,OMIM:193220, Orphanet:263347, Orphanet:3086|MONDO:MONDO:0007931116171938761719387TC11:g.61719387T>CClinGen:CA179803CN517202 not provided;
NM_004183.4(BEST1):c.139C>T (p.Arg47Cys)7439BEST1Conflicting interpretations of pathogenicityrs765333778RCV000287360|RCV000335416|RCV000407117|RCV001376914; NMONDO:MONDO:0008662,MedGen:C3888099,OMIM:193220, Orphanet:263347, Orphanet:3086|Human Phenotype Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000, Orphanet:791|MONDO:MONDO:0007931,MedGen:C2745945,OMIM:153700,Orp116171941761719417CTNC_000011.9:g.61719417C>TClinGen:CA6040678CN239466 Retinitis Pigmentosa, Recessive;
NM_004183.4(BEST1):c.152+6G>T7439BEST1Conflicting interpretations of pathogenicityrs764420497RCV000300302|RCV000338835|RCV000407510|RCV001859813; NMONDO:MONDO:0007931,MedGen:C2745945,OMIM:153700, Orphanet:1243|MONDO:MONDO:0008662,MedGen:C3888099,OMIM:193220, Orphanet:263347, Orphanet:3086|Human Phenotype Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000,Or116171943661719436GTNC_000011.9:g.61719436G>TClinGen:CA6040680CN239466 Retinitis Pigmentosa, Recessive;
NM_004183.4(BEST1):c.213C>T (p.Ser71=)7439BEST1Benign/Likely benignrs57132800RCV000272388|RCV000307191|RCV000364605|RCV000911875; NMONDO:MONDO:0008662,MedGen:C3888099,OMIM:193220, Orphanet:263347, Orphanet:3086|MONDO:MONDO:0007931,MedGen:C2745945,OMIM:153700, Orphanet:1243|Human Phenotype Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000,Or116172263961722639CTNC_000011.9:g.61722639C>TClinGen:CA6040718CN239466 Retinitis Pigmentosa, Recessive;
NM_004183.4(BEST1):c.229C>A (p.Pro77Thr)7439BEST1Uncertain significancers1941154059RCV001103320|RCV001103319|RCV001108500; NHuman Phenotype Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000, Orphanet:791|MONDO:MONDO:0008662,MedGen:C3888099,OMIM:193220, Orphanet:263347, Orphanet:3086|MONDO:MONDO:0007931,MedGen:C2745945,OMIM:153700,Orp116172265561722655CA11:g.61722655C>A-
NM_004183.4(BEST1):c.256G>A (p.Val86Met)7439BEST1Pathogenicrs121918289RCV000002867|RCV001074078|RCV001851592; NMONDO:MONDO:0008662,MedGen:C3888099,OMIM:193220, Orphanet:263347, Orphanet:3086|Human Phenotype Ontology:HP:0000556,Human Phenotype Ontology:HP:0007736,Human Phenotype Ontology:HP:0007910,Human Phenotype Ontology:HP:0007974,Human Phenotype Ontology:HP:000116172319861723198GA11:g.61723198G>AClinGen:CA115729,UniProtKB:O76090#VAR_058274,OMIM:607854.0019C1860406 193220 Vitreoretinochoroidopathy;
NM_004183.4(BEST1):c.302C>T (p.Pro101Leu)7439BEST1Conflicting interpretations of pathogenicityrs374517178RCV001103321|RCV001103322|RCV001103323|RCV001856401; NHuman Phenotype Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000, Orphanet:791|MONDO:MONDO:0008662,MedGen:C3888099,OMIM:193220, Orphanet:263347, Orphanet:3086|MONDO:MONDO:0007931,MedGen:C2745945,OMIM:153700,Orp116172324461723244CT11:g.61723244C>T-
NM_004183.4(BEST1):c.351G>A (p.Lys117=)7439BEST1Uncertain significancers886048426RCV000279421|RCV000324024|RCV000371623; NHuman Phenotype Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000, Orphanet:791|MONDO:MONDO:0007931,MedGen:C2745945,OMIM:153700, Orphanet:1243|MONDO:MONDO:0008662,MedGen:C3888099,OMIM:193220, Orphanet:263347,Orp116172329361723293GANC_000011.9:g.61723293G>AClinGen:CA10638859CN239466 Retinitis Pigmentosa, Recessive;
NM_004183.4(BEST1):c.422G>A (p.Arg141His)7439BEST1Conflicting interpretations of pathogenicityrs121918284RCV000002862|RCV000002863|RCV000086135|RCV000292546|RCV000375283|RCV001075875|RCV000787541; NMONDO:MONDO:0007931,MedGen:C2745945,OMIM:153700, Orphanet:1243|MONDO:MONDO:0012733,MedGen:C3888198,OMIM:611809, Orphanet:139455|MedGen:CN517202|MedGen:CN239466|MONDO:MONDO:0008662,MedGen:C3888099,OMIM:193220, Orphanet:263347, Orphanet:3086|Human Phenotype O116172336461723364GANC_000011.9:g.61723364G>AClinGen:CA115724,UniProtKB:O76090#VAR_000847,OMIM:607854.0013C3888198 611809 Bestrophinopathy, autosomal recessive;
NM_004183.4(BEST1):c.482-15C>T7439BEST1Conflicting interpretations of pathogenicityrs201010315RCV001105227|RCV001105228|RCV001105229|RCV001513069; NMONDO:MONDO:0007931,MedGen:C2745945,OMIM:153700, Orphanet:1243|Human Phenotype Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000, Orphanet:791|MONDO:MONDO:0008662,MedGen:C3888099,OMIM:193220, Orphanet:263347,Orp116172430161724301CT11:g.61724301C>T-
NM_004183.4(BEST1):c.495G>A (p.Pro165=)7439BEST1Conflicting interpretations of pathogenicityrs182941675RCV000314904|RCV000349792|RCV000396611|RCV000398400|RCV000919864; NHuman Phenotype Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000, Orphanet:791|MONDO:MONDO:0007931,MedGen:C2745945,OMIM:153700, Orphanet:1243|MedGen:CN169374|MONDO:MONDO:0008662,MedGen:C3888099,OMIM:193220,Orp116172432961724329GA11:g.61724329G>AClinGen:CA6040767CN169374 not specified;
NM_004183.4(BEST1):c.602T>C (p.Ile201Thr)7439BEST1Conflicting interpretations of pathogenicityrs199529046RCV000169651|RCV000086141|RCV000312619|RCV000408002|RCV000344091|RCV001376213; NMONDO:MONDO:0012733,MedGen:C3888198,OMIM:611809, Orphanet:139455|MedGen:CN517202|MedGen:CN239200|MONDO:MONDO:0008662,MedGen:C3888099,OMIM:193220, Orphanet:263347, Orphanet:3086|Human Phenotype Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C00116172443661724436TC11:g.61724436T>CClinGen:CA199155,UniProtKB:O76090#VAR_025733CN239200 BEST1-Related Disorders;
NM_004183.4(BEST1):c.618G>A (p.Leu206=)7439BEST1Benign/Likely benignrs62641693RCV000152863|RCV000299670|RCV000263197|RCV000367268|RCV000755847; NMedGen:CN169374|Human Phenotype Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000, Orphanet:791|MONDO:MONDO:0008662,MedGen:C3888099,OMIM:193220, Orphanet:263347, Orphanet:3086|MONDO:MONDO:0007931,MedGen:C2745945116172445261724452GA11:g.61724452G>AClinGen:CA179807CN169374 not specified;
NM_004183.4(BEST1):c.636+44C>T7439BEST1Benign-1RCV001554223|RCV001554224|RCV001554225|RCV001554222|RCV001655893; NMONDO:MONDO:0007931,MedGen:C2745945,OMIM:153700, Orphanet:1243|MONDO:MONDO:0013175,MedGen:C2750789,OMIM:613194, Orphanet:791|MONDO:MONDO:0012733,MedGen:C3888198,OMIM:611809, Orphanet:139455|MONDO:MONDO:0008662,MedGen:C3888099,OMIM:193220, Orphanet:263347,Or116172451461724514CT61724514-
NM_004183.4(BEST1):c.637-6C>T7439BEST1Conflicting interpretations of pathogenicityrs62639356RCV000086147|RCV000320452|RCV000265298|RCV000378739; NMedGen:CN517202|MONDO:MONDO:0008662,MedGen:C3888099,OMIM:193220, Orphanet:263347, Orphanet:3086|MONDO:MONDO:0007931,MedGen:C2745945,OMIM:153700, Orphanet:1243|Human Phenotype Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,116172485361724853CT11:g.61724853C>TClinGen:CA227791CN517202 not provided;
NM_004183.4(BEST1):c.696C>A (p.Ile232=)7439BEST1Benignrs1805140RCV000086160|RCV000289805|RCV000345038|RCV000384382; NMedGen:CN517202|MONDO:MONDO:0007931,MedGen:C2745945,OMIM:153700, Orphanet:1243|Human Phenotype Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000, Orphanet:791|MONDO:MONDO:0008662,MedGen:C3888099,OMIM:193220,Orp116172491861724918CA11:g.61724918C>AClinGen:CA227806CN517202 not provided;
NM_004183.4(BEST1):c.699A>G (p.Pro233=)7439BEST1Conflicting interpretations of pathogenicityrs760816505RCV000295807|RCV000350763|RCV000380916|RCV001497445; NMONDO:MONDO:0008662,MedGen:C3888099,OMIM:193220, Orphanet:263347, Orphanet:3086|Human Phenotype Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000, Orphanet:791|MONDO:MONDO:0007931,MedGen:C2745945,OMIM:153700,Orp116172492161724921AGNC_000011.9:g.61724921A>GClinGen:CA6040820CN239466 Retinitis Pigmentosa, Recessive;
NM_004183.4(BEST1):c.704T>C (p.Val235Ala)7439BEST1Pathogenicrs267606679RCV000002876; NMONDO:MONDO:0008662,MedGen:C3888099,OMIM:193220, Orphanet:263347, Orphanet:3086116172492661724926TC11:g.61724926T>CClinGen:CA115734,OMIM:607854.0026C1860406 193220 Vitreoretinochoroidopathy;
NM_004183.4(BEST1):c.707A>G (p.Tyr236Cys)7439BEST1Pathogenicrs121918291RCV000002869; NMONDO:MONDO:0008662,MedGen:C3888099,OMIM:193220, Orphanet:263347, Orphanet:3086116172492961724929AG11:g.61724929A>GClinGen:CA115731,UniProtKB:O76090#VAR_058275,OMIM:607854.0021C1860406 193220 Vitreoretinochoroidopathy;
NM_004183.4(BEST1):c.813C>T (p.Leu271=)7439BEST1Conflicting interpretations of pathogenicityrs370397270RCV000282464|RCV000337607|RCV000399998|RCV001483602; NMONDO:MONDO:0007931,MedGen:C2745945,OMIM:153700, Orphanet:1243|Human Phenotype Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000, Orphanet:791|MONDO:MONDO:0008662,MedGen:C3888099,OMIM:193220, Orphanet:263347,Orp116172571661725716CTNC_000011.9:g.61725716C>TClinGen:CA6040859CN239466 Retinitis Pigmentosa, Recessive;
NM_004183.4(BEST1):c.822C>T (p.Pro274=)7439BEST1Conflicting interpretations of pathogenicityrs759678509RCV001103400|RCV001103401|RCV001103399|RCV001465607; NHuman Phenotype Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000, Orphanet:791|MONDO:MONDO:0008662,MedGen:C3888099,OMIM:193220, Orphanet:263347, Orphanet:3086|MONDO:MONDO:0007931,MedGen:C2745945,OMIM:153700,Orp116172572561725725CT11:g.61725725C>T-
NM_004183.4(BEST1):c.867+327T>G7439BEST1Benign-1RCV001538323|RCV001554228|RCV001554229|RCV001554226|RCV001554227; NMedGen:CN517202|MONDO:MONDO:0013175,MedGen:C2750789,OMIM:613194, Orphanet:791|MONDO:MONDO:0012733,MedGen:C3888198,OMIM:611809, Orphanet:139455|MONDO:MONDO:0008662,MedGen:C3888099,OMIM:193220, Orphanet:263347, Orphanet:3086|MONDO:MONDO:0007931,MedGen:C274594116172609761726097TG61726097-
NM_004183.4(BEST1):c.868-99G>T7439BEST1Benign-1RCV001553903|RCV001553905|RCV001554230|RCV001553904|RCV001647427; NMONDO:MONDO:0007931,MedGen:C2745945,OMIM:153700, Orphanet:1243|MONDO:MONDO:0012733,MedGen:C3888198,OMIM:611809, Orphanet:139455|MONDO:MONDO:0008662,MedGen:C3888099,OMIM:193220, Orphanet:263347, Orphanet:3086|MONDO:MONDO:0013175,MedGen:C2750789,OMIM:613194,O116172687161726871GT61726871-
NM_004183.4(BEST1):c.954C>G (p.Ser318=)7439BEST1Conflicting interpretations of pathogenicityrs144231113RCV000297886|RCV000361992|RCV000392100|RCV001500896; NMONDO:MONDO:0007931,MedGen:C2745945,OMIM:153700, Orphanet:1243|Human Phenotype Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000, Orphanet:791|MONDO:MONDO:0008662,MedGen:C3888099,OMIM:193220, Orphanet:263347,Orp116172736961727369CGNC_000011.9:g.61727369C>GClinGen:CA6040956CN239466 Retinitis Pigmentosa, Recessive;
NM_004183.4(BEST1):c.991C>T (p.Arg331Trp)7439BEST1Conflicting interpretations of pathogenicityrs757536535RCV001105322|RCV001105320|RCV001105321|RCV001320312; NHuman Phenotype Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000, Orphanet:791|MONDO:MONDO:0008662,MedGen:C3888099,OMIM:193220, Orphanet:263347, Orphanet:3086|MONDO:MONDO:0007931,MedGen:C2745945,OMIM:153700,Orp116172740661727406CT11:g.61727406C>T-
NM_004183.4(BEST1):c.1054G>A (p.Ala352Thr)7439BEST1Conflicting interpretations of pathogenicityrs147409760RCV001060186|RCV001106450|RCV001105324|RCV001105325; NMedGen:CN517202|MONDO:MONDO:0008662,MedGen:C3888099,OMIM:193220, Orphanet:263347, Orphanet:3086|MONDO:MONDO:0007931,MedGen:C2745945,OMIM:153700, Orphanet:1243|Human Phenotype Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,116172746961727469GA11:g.61727469G>AClinGen:CA6040973CN169374 not specified;
NM_004183.4(BEST1):c.1067G>T (p.Arg356Leu)7439BEST1Uncertain significancers751707411RCV001106453|RCV001106452|RCV001106454|RCV001873507; NHuman Phenotype Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000, Orphanet:791|MONDO:MONDO:0008662,MedGen:C3888099,OMIM:193220, Orphanet:263347, Orphanet:3086|MONDO:MONDO:0007931,MedGen:C2745945,OMIM:153700,Orp116172748261727482GT11:g.61727482G>T-
NM_004183.4(BEST1):c.1157A>C (p.His386Pro)7439BEST1Uncertain significancers886048427RCV000280429|RCV000335458|RCV000400200; NMONDO:MONDO:0007931,MedGen:C2745945,OMIM:153700, Orphanet:1243|MONDO:MONDO:0008662,MedGen:C3888099,OMIM:193220, Orphanet:263347, Orphanet:3086|Human Phenotype Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000,Or116172978361729783AC11:g.61729783A>CClinGen:CA10639483CN239466 Retinitis Pigmentosa, Recessive;
NM_004183.4(BEST1):c.1267G>A (p.Glu423Lys)7439BEST1Uncertain significancers779855350RCV001103495|RCV001103497|RCV001103496|RCV001222594; NMONDO:MONDO:0008662,MedGen:C3888099,OMIM:193220, Orphanet:263347, Orphanet:3086|Human Phenotype Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000, Orphanet:791|MONDO:MONDO:0007931,MedGen:C2745945,OMIM:153700,Orp116172989361729893GA11:g.61729893G>A-
NM_004183.4(BEST1):c.1330G>A (p.Ala444Thr)7439BEST1Uncertain significancers765604572RCV000286534|RCV000341403|RCV000392912; NMONDO:MONDO:0008662,MedGen:C3888099,OMIM:193220, Orphanet:263347, Orphanet:3086|MONDO:MONDO:0007931,MedGen:C2745945,OMIM:153700, Orphanet:1243|Human Phenotype Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000,Or116172995661729956GA11:g.61729956G>AClinGen:CA6041039CN239466 Retinitis Pigmentosa, Recessive;
NM_004183.4(BEST1):c.1457C>T (p.Pro486Leu)7439BEST1Uncertain significancers886048428RCV000277533|RCV000307830|RCV000362560; NHuman Phenotype Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000, Orphanet:791|MONDO:MONDO:0007931,MedGen:C2745945,OMIM:153700, Orphanet:1243|MONDO:MONDO:0008662,MedGen:C3888099,OMIM:193220, Orphanet:263347,Orp116173008361730083CT11:g.61730083C>TClinGen:CA10638867CN239466 Retinitis Pigmentosa, Recessive;
NM_004183.4(BEST1):c.1583A>G (p.Glu528Gly)7439BEST1Uncertain significancers757181644RCV000289865|RCV000339359|RCV000384296; NMONDO:MONDO:0007931,MedGen:C2745945,OMIM:153700, Orphanet:1243|Human Phenotype Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000, Orphanet:791|MONDO:MONDO:0008662,MedGen:C3888099,OMIM:193220, Orphanet:263347,Orp116173020961730209AG11:g.61730209A>GClinGen:CA10638870CN239466 Retinitis Pigmentosa, Recessive;
NM_004183.4(BEST1):c.1681A>G (p.Thr561Ala)7439BEST1Uncertain significancers281865283RCV000086093|RCV001103572|RCV001103573|RCV001103574; NMedGen:CN517202|MONDO:MONDO:0008662,MedGen:C3888099,OMIM:193220, Orphanet:263347, Orphanet:3086|Human Phenotype Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000, Orphanet:791|MONDO:MONDO:0007931,MedGen:C2745945116173030761730307AG11:g.61730307A>GClinGen:CA227732,UniProtKB:O76090#VAR_010490CN517202 not provided;
NM_004183.4(BEST1):c.*45T>C7439BEST1Conflicting interpretations of pathogenicityrs201586629RCV001105503|RCV001105504|RCV001105505; NHuman Phenotype Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000, Orphanet:791|MONDO:MONDO:0007931,MedGen:C2745945,OMIM:153700, Orphanet:1243|MONDO:MONDO:0008662,MedGen:C3888099,OMIM:193220, Orphanet:263347,Orp116173163961731639TC11:g.61731639T>C-
NM_004183.4(BEST1):c.1023C>T (p.Pro341=)-1BEST1;FTH1Benign/Likely benignrs1801390RCV000086082|RCV000392142|RCV000303310|RCV000342198|RCV000358637|RCV000596677|RCV001105323; NMedGen:CN517202|MedGen:CN239466|MONDO:MONDO:0008662,MedGen:C3888099,OMIM:193220, Orphanet:263347, Orphanet:3086|MedGen:C0282193|MONDO:MONDO:0007931,MedGen:C2745945,OMIM:153700, Orphanet:1243|MedGen:CN169374|Human Phenotype Ontology:HP:0000547,MONDO:MONDO:0116172743861727438CT11:g.61727438C>TClinGen:CA227720C0282193 Iron Overload;
NM_004183.4(BEST1):c.1064G>A (p.Arg355His)-1BEST1;FTH1Conflicting interpretations of pathogenicityrs368356148RCV000273316|RCV000328299|RCV000364308|RCV000406541|RCV001106451|RCV001238318; NMONDO:MONDO:0008662,MedGen:C3888099,OMIM:193220, Orphanet:263347, Orphanet:3086|MedGen:CN239466|MONDO:MONDO:0007931,MedGen:C2745945,OMIM:153700, Orphanet:1243|MedGen:C0282193|Human Phenotype Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035116172747961727479GANC_000011.9:g.61727479G>AClinGen:CA6040975C0282193 Iron Overload;
NM_004183.4(BEST1):c.1070C>T (p.Ala357Val)-1BEST1;FTH1Conflicting interpretations of pathogenicityrs17854138RCV000269600|RCV000300553|RCV000333972|RCV000388625|RCV000885201|RCV001106455; NMONDO:MONDO:0008662,MedGen:C3888099,OMIM:193220, Orphanet:263347, Orphanet:3086|MedGen:C0282193|MONDO:MONDO:0007931,MedGen:C2745945,OMIM:153700, Orphanet:1243|MedGen:CN239466|MedGen:CN517202|Human Phenotype Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012116172748561727485CTNC_000011.9:g.61727485C>TClinGen:CA6040979,UniProtKB:O76090#VAR_043496C0282193 Iron Overload;
NM_004183.4(BEST1):c.1143C>T (p.Asp381=)-1BEST1;FTH1Conflicting interpretations of pathogenicityrs112199774RCV000294315|RCV000329766|RCV000355432|RCV000375066|RCV001108652|RCV001469477; NMONDO:MONDO:0007931,MedGen:C2745945,OMIM:153700, Orphanet:1243|MedGen:CN239466|MedGen:C0282193|MONDO:MONDO:0008662,MedGen:C3888099,OMIM:193220, Orphanet:263347, Orphanet:3086|Human Phenotype Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035116172976961729769CTNC_000011.9:g.61729769C>TClinGen:CA6041006C0282193 Iron Overload;
NM_004183.4(BEST1):c.1410G>A (p.Thr470=)-1BEST1;FTH1Benignrs149698RCV000173795|RCV000301873|RCV000365872|RCV000392906|RCV000401921|RCV001103498|RCV001517785|RCV001553906|RCV001553907; NMedGen:CN169374|MONDO:MONDO:0007931,MedGen:C2745945,OMIM:153700, Orphanet:1243|MONDO:MONDO:0008662,MedGen:C3888099,OMIM:193220, Orphanet:263347, Orphanet:3086|MedGen:CN239466|MedGen:C0282193|Human Phenotype Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012116173003661730036GA11:g.61730036G>AClinGen:CA200716C0282193 Iron Overload;
NM_004183.4(BEST1):c.1474G>A (p.Val492Ile)-1BEST1;FTH1Benign/Likely benignrs111326315RCV000173796|RCV000311168|RCV000263285|RCV000332568|RCV000368515|RCV000970229|RCV001105411; NMedGen:CN169374|MedGen:C0282193|MONDO:MONDO:0007931,MedGen:C2745945,OMIM:153700, Orphanet:1243|MONDO:MONDO:0008662,MedGen:C3888099,OMIM:193220, Orphanet:263347, Orphanet:3086|MedGen:CN239466|MedGen:CN517202|Human Phenotype Ontology:HP:0000547,MONDO:MONDO:0116173010061730100GA11:g.61730100G>AClinGen:CA200718C0282193 Iron Overload;
NM_004183.4(BEST1):c.1519T>C (p.Ser507Pro)-1BEST1;FTH1Conflicting interpretations of pathogenicityrs141071579RCV000278563|RCV000318463|RCV000370478|RCV000373030|RCV000994642|RCV001106556; NMONDO:MONDO:0008662,MedGen:C3888099,OMIM:193220, Orphanet:263347, Orphanet:3086|MONDO:MONDO:0007931,MedGen:C2745945,OMIM:153700, Orphanet:1243|MedGen:C0282193|MedGen:CN239466|MedGen:CN517202|Human Phenotype Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012116173014561730145TC11:g.61730145T>CClinGen:CA6041073C0282193 Iron Overload;
NM_004183.4(BEST1):c.1557C>T (p.Ser519=)-1BEST1;FTH1Benignrs1800008RCV000086088|RCV000284287|RCV000152855|RCV000378667|RCV000275822|RCV000324134|RCV001106557; NMedGen:CN517202|MedGen:CN239466|MedGen:CN169374|MONDO:MONDO:0008662,MedGen:C3888099,OMIM:193220, Orphanet:263347, Orphanet:3086|MedGen:C0282193|MONDO:MONDO:0007931,MedGen:C2745945,OMIM:153700, Orphanet:1243|Human Phenotype Ontology:HP:0000547,MONDO:MONDO:0116173018361730183CT11:g.61730183C>TClinGen:CA179799C0282193 Iron Overload;
NM_004183.4(BEST1):c.1608T>C (p.Thr536=)-1BEST1;FTH1Benignrs1800009RCV000086090|RCV000152856|RCV000314627|RCV000326254|RCV000344805|RCV000398299|RCV001108732; NMedGen:CN517202|MedGen:CN169374|MedGen:CN239466|MedGen:C0282193|MONDO:MONDO:0007931,MedGen:C2745945,OMIM:153700, Orphanet:1243|MONDO:MONDO:0008662,MedGen:C3888099,OMIM:193220, Orphanet:263347, Orphanet:3086|Human Phenotype Ontology:HP:0000547,MONDO:MONDO:0116173023461730234TC11:g.61730234T>CClinGen:CA179801C0282193 Iron Overload;
NM_004183.4(BEST1):c.1669G>A (p.Glu557Lys)-1BEST1;FTH1Conflicting interpretations of pathogenicityrs147192139RCV000086092|RCV000311148|RCV000350824|RCV000362495|RCV000408253|RCV001108733; NMedGen:CN517202|MONDO:MONDO:0008662,MedGen:C3888099,OMIM:193220, Orphanet:263347, Orphanet:3086|MedGen:CN239466|MedGen:C0282193|MONDO:MONDO:0007931,MedGen:C2745945,OMIM:153700, Orphanet:1243|Human Phenotype Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012116173029561730295GA11:g.61730295G>AClinGen:CA227730,UniProtKB:O76090#VAR_010489C0282193 Iron Overload;
NM_004183.4(BEST1):c.*24C>T-1BEST1;FTH1Conflicting interpretations of pathogenicityrs142482048RCV000268187|RCV000323224|RCV000327696|RCV000353870|RCV001105502; NMedGen:CN239466|MONDO:MONDO:0008662,MedGen:C3888099,OMIM:193220, Orphanet:263347, Orphanet:3086|MedGen:C0282193|MONDO:MONDO:0007931,MedGen:C2745945,OMIM:153700, Orphanet:1243|Human Phenotype Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035116173161861731618CTNC_000011.9:g.61731618C>TClinGen:CA6041173C0282193 Iron Overload;
NM_004183.4(BEST1):c.*133T>C-1BEST1;FTH1Benign/Likely benignrs1801621RCV000264579|RCV000329518|RCV000377814|RCV000377572|RCV001105506|RCV001653504; NMONDO:MONDO:0007931,MedGen:C2745945,OMIM:153700, Orphanet:1243|MedGen:CN239466|MONDO:MONDO:0008662,MedGen:C3888099,OMIM:193220, Orphanet:263347, Orphanet:3086|MedGen:C0282193|Human Phenotype Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035116173172761731727TCNC_000011.9:g.61731727T>CClinGen:CA10631094C0282193 Iron Overload;
NM_002032.3(FTH1):c.*396A>G-1BEST1;FTH1Conflicting interpretations of pathogenicityrs565138844RCV000289773|RCV000344702|RCV000384131|RCV001106667|RCV001823885; NMONDO:MONDO:0008662,MedGen:C3888099,OMIM:193220, Orphanet:263347, Orphanet:3086|MONDO:MONDO:0007931,MedGen:C2745945,OMIM:153700, Orphanet:1243|MedGen:CN239466|Human Phenotype Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,116173180361731803TC11:g.61731803T>CClinGen:CA10639484C0282193 Iron Overload;
NM_002032.3(FTH1):c.*389A>G-1BEST1;FTH1Conflicting interpretations of pathogenicityrs1801327RCV000295412|RCV000350392|RCV000400061|RCV001106668|RCV001548273|RCV001823886; NMONDO:MONDO:0008662,MedGen:C3888099,OMIM:193220, Orphanet:263347, Orphanet:3086|MONDO:MONDO:0007931,MedGen:C2745945,OMIM:153700, Orphanet:1243|MedGen:CN239466|Human Phenotype Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,116173181061731810TC11:g.61731810T>CClinGen:CA10638871C0282193 Iron Overload;
NM_002032.3(FTH1):c.*336A>G-1BEST1;FTH1Uncertain significancers1158112939RCV001108818|RCV001108817|RCV001108819|RCV001823939; NMONDO:MONDO:0007931,MedGen:C2745945,OMIM:153700, Orphanet:1243|Human Phenotype Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000, Orphanet:791|MONDO:MONDO:0008662,MedGen:C3888099,OMIM:193220, Orphanet:263347,Orp116173186361731863TC11:g.61731863T>C-
NM_002032.3(FTH1):c.*319G>A-1BEST1;FTH1Benign/Likely benignrs75281081RCV000305115|RCV000360041|RCV000392481|RCV001108821|RCV001753769|RCV001823887; NMONDO:MONDO:0007931,MedGen:C2745945,OMIM:153700, Orphanet:1243|MONDO:MONDO:0008662,MedGen:C3888099,OMIM:193220, Orphanet:263347, Orphanet:3086|MedGen:CN239466|Human Phenotype Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,116173188061731880CT11:g.61731880C>TClinGen:CA10638892C0282193 Iron Overload;
NM_002032.3(FTH1):c.*312A>G-1BEST1;FTH1Uncertain significancers756884770RCV001103666|RCV001103667|RCV001103668|RCV001823888; NMONDO:MONDO:0007931,MedGen:C2745945,OMIM:153700, Orphanet:1243|MONDO:MONDO:0008662,MedGen:C3888099,OMIM:193220, Orphanet:263347, Orphanet:3086|Human Phenotype Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000,Or116173188761731887TC11:g.61731887T>CClinGen:CA10635126C0282193 Iron Overload;
NM_002032.3(FTH1):c.*222C>T-1BEST1;FTH1Benignrs17156609RCV000283182|RCV000324273|RCV000365798|RCV000378877|RCV001612963|RCV001823889; NMONDO:MONDO:0007931,MedGen:C2745945,OMIM:153700, Orphanet:1243|MedGen:CN239466|MedGen:C0282193|MONDO:MONDO:0008662,MedGen:C3888099,OMIM:193220, Orphanet:263347, Orphanet:3086|MedGen:CN517202|MONDO:MONDO:0014225,MedGen:C1851316,OMIM:615517, Orphanet:247790116173197761731977GANC_000011.9:g.61731977G>AClinGen:CA10635127C0282193 Iron Overload;
NM_002032.3(FTH1):c.387+12A>G-1BEST1;FTH1Benign/Likely benignrs201120647RCV000276433|RCV000278623|RCV000335989|RCV000392248|RCV001823893; NMedGen:C0282193|MONDO:MONDO:0008662,MedGen:C3888099,OMIM:193220, Orphanet:263347, Orphanet:3086|MONDO:MONDO:0007931,MedGen:C2745945,OMIM:153700, Orphanet:1243|MedGen:CN239466|MONDO:MONDO:0014225,MedGen:C1851316,OMIM:615517, Orphanet:247790116173244761732447TCNC_000011.9:g.61732447T>CClinGen:CA6041251C0282193 Iron Overload;
NM_002032.3(FTH1):c.161A>G (p.Lys54Arg)-1BEST1;FTH1Benign/Likely benignrs186448909RCV000282008|RCV000348713|RCV000392462|RCV000385949|RCV001823895|RCV002056211; NMedGen:CN239466|MONDO:MONDO:0008662,MedGen:C3888099,OMIM:193220, Orphanet:263347, Orphanet:3086|MONDO:MONDO:0007931,MedGen:C2745945,OMIM:153700, Orphanet:1243|MedGen:C0282193|MONDO:MONDO:0014225,MedGen:C1851316,OMIM:615517, Orphanet:247790|MedGen:CN517202116173294161732941TCNC_000011.9:g.61732941T>CClinGen:CA6041299C0282193 Iron Overload;
NM_004183.4(BEST1):c.1699C>T (p.Leu567Phe)-1FTH1;BEST1Conflicting interpretations of pathogenicityrs148060787RCV000086094|RCV000272476|RCV000357304|RCV000298984|RCV000262526|RCV001103575; NMedGen:CN517202|MedGen:C0282193|MONDO:MONDO:0008662,MedGen:C3888099,OMIM:193220, Orphanet:263347, Orphanet:3086|MedGen:CN239466|MONDO:MONDO:0007931,MedGen:C2745945,OMIM:153700, Orphanet:1243|Human Phenotype Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012116173032561730325CT11:g.61730325C>TClinGen:CA227734,UniProtKB:O76090#VAR_010491C0282193 Iron Overload;
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