MSeqDR Mitochondrial Disease Portal


 
*:HP: HPO terms, UMDF: 1= Disease, ND: NAMDC terms.
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Disease Browser
Parent Node:
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Retinitis Pigmentosa (D012174)
..Starting node
..expand
Cone-Rod Dystrophy 3 (C565827)

       Child Nodes:



 Sister Nodes: 
..expandAldred syndrome (C537046)
..expandAlstrom Syndrome (D056769)
..expandAmaurosis hypertrichosis (C536604)
..expandBardet-Biedl Syndrome (D020788) Child13
..expandBork Stender Schmidt syndrome (C536576)
..expandChang Davidson Carlson syndrome (C538075)
..expandChromosome Xp11.3 Deletion Syndrome (C564481)
..expandCone Dystrophy 3 (C566579)
..expandCone Dystrophy 4 (C567758)
..expandCone Dystrophy, X-Linked, 1 (C564439)
..expandCone dystrophy, x-linked, with tapetal-like sheen (C535975)
..expandCone rod dystrophy amelogenesis imperfecta (C535976)
..expandCone-Rod Dystrophy 1 (C563469)
..expandCone-Rod Dystrophy 10 (C564597)
..expandCone-Rod Dystrophy 11 (C563671)
..expandCone-Rod Dystrophy 12 (C567206)
..expandCone-Rod Dystrophy 13 (C567698)
..expandCONE-ROD DYSTROPHY 16 (OMIM:614500)
..expandCONE-ROD DYSTROPHY 18 (OMIM:615374)
..expandCONE-ROD DYSTROPHY 19 (OMIM:615860)
..expandCONE-ROD DYSTROPHY 2 (OMIM:120970)
..expandCONE-ROD DYSTROPHY 20 (OMIM:615973)
..expandCONE-ROD DYSTROPHY 21 (OMIM:616502)
..expandCone-Rod Dystrophy 3 (C565827)
..expandCone-Rod Dystrophy 5 (C563415)
..expandCone-Rod Dystrophy 7 (C566350)
..expandCone-Rod Dystrophy 8 (C565322)
..expandCONE-ROD DYSTROPHY AND HEARING LOSS (OMIM:617236)
..expandCone-Rod Dystrophy, X-Linked, 2 (C564717)
..expandCone-Rod Dystrophy, X-Linked, 3 (C564507)
..expandCone-Rod Dystrophy, X-Linked, Type 1 (C564438)
..expandCutis Verticis Gyrata, Retinitis Pigmentosa, and Sensorineural Deafness (C565306)
..expandDeafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities (C567467)
..expandFlynn Aird syndrome (C537066)
..expandFurukawa Takagi Nakao syndrome (C538193)
..expandHardikar syndrome (C535632)
..expandKearns-Sayre Syndrome (D007625) Child1  LSDB  L: 00143;
..expandLeber Congenital Amaurosis 14 (C567636)
..expandLeber Congenital Amaurosis 3 (C565814)
..expandLight Fixation Seizure Syndrome (C566367)
..expandMACULAR DYSTROPHY WITH CENTRAL CONE INVOLVEMENT (OMIM:616170)
..expandMainzer-Saldino Disease (C535463)
..expandMeckel syndrome type 1 (C536133)
..expandMental Retardation, Severe, With Spasticity And Pigmentary Tapetoretinal Degeneration (C566429)
..expandMetaphyseal Chondrodysplasia with Retinitis Pigmentosa (C565398)
..expandMicrocephaly, Retinitis Pigmentosa, and Sutural Cataract (C563296)
..expandMICROPHTHALMIA, ISOLATED 5 (OMIM:611040)
..expandMicrophthalmia, Posterior, With Retinitis Pigmentosa, Foveoschisis, And Optic Disc Drusen (C567024)
..expandMirhosseini-Holmes-Walton syndrome (C538367)
..expandMuscular Atrophy, Ataxia, Retinitis Pigmentosa, and Diabetes Mellitus (C562774)
..expandNeuropathy ataxia and retinitis pigmentosa (C537396)  LSDB  L: 00168;
..expandNewfoundland Rod-Cone Dystrophy (C564391)
..expandOculotrichodysplasia (C564934)
..expandOliver-McFarlane syndrome (C536554)
..expandPallidal Degeneration, Progressive, with Retinitis Pigmentosa (C564910)
..expandPeripheral Cone Dystrophy (C563813)
..expandPolyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract (C567203)
..expandPosterior column ataxia with retinitis pigmentosa (C536343)
..expandRadioulnar synostosis retinal pigment abnormalities (C536270)
..expandRetinal cone dystrophy 2 (C538363)
..expandRetinal Cone Dystrophy 3A (C566483)
..expandRetinal Cone Dystrophy 3B (C563678)
..expandRetinal Cone Dystrophy 4 (C566470)
..expandRetinitis pigmentosa 1 (C538365)
..expandRetinitis Pigmentosa 10 (C566715)
..expandRetinitis Pigmentosa 11 (C563991)
..expandRetinitis Pigmentosa 12 (C563999)
..expandRetinitis Pigmentosa 13 (C564008)
..expandRetinitis Pigmentosa 14 (C563992)
..expandRetinitis Pigmentosa 17 (C563437)
..expandRetinitis Pigmentosa 18 (C563320)
..expandRetinitis Pigmentosa 19 (C566637)
..expandRetinitis Pigmentosa 2 (C567523)
..expandRetinitis Pigmentosa 20 (C566718)
..expandRETINITIS PIGMENTOSA 22 (OMIM:602594)
..expandRETINITIS PIGMENTOSA 23 (OMIM:300424)
..expandRETINITIS PIGMENTOSA 24 (OMIM:300155)
..expandRetinitis Pigmentosa 25 (C566425)
..expandRetinitis Pigmentosa 26 (C564249)
..expandRetinitis Pigmentosa 27 (C563526)
..expandRETINITIS PIGMENTOSA 28 (OMIM:606068)
..expandRetinitis Pigmentosa 29 (C567403)
..expandRetinitis Pigmentosa 3 (C564520)
..expandRetinitis Pigmentosa 30 (C564310)
..expandRetinitis Pigmentosa 31 (C563685)
..expandRetinitis Pigmentosa 32 (C563689)
..expandRetinitis Pigmentosa 33 (C563676)
..expandRetinitis Pigmentosa 34 (C564475)
..expandRetinitis Pigmentosa 35 (C565206)
..expandRetinitis Pigmentosa 36 (C566431)
..expandRetinitis Pigmentosa 37 (C567005)
..expandRETINITIS PIGMENTOSA 38 (OMIM:613862)
..expandRETINITIS PIGMENTOSA 39 (OMIM:613809)
..expandRetinitis Pigmentosa 4 (C566706)
..expandRETINITIS PIGMENTOSA 40 (OMIM:613801)
..expandRetinitis Pigmentosa 41 (C567422)
..expandRetinitis Pigmentosa 42 (C567854)
..expandRETINITIS PIGMENTOSA 43 (OMIM:613810)
..expandRETINITIS PIGMENTOSA 44 (OMIM:613769)
..expandRETINITIS PIGMENTOSA 45 (OMIM:613767)
..expandRetinitis Pigmentosa 46 (C567249)
..expandRETINITIS PIGMENTOSA 47 (OMIM:613758)
..expandRETINITIS PIGMENTOSA 48 (OMIM:613827)
..expandRETINITIS PIGMENTOSA 49 (OMIM:613756)
..expandRETINITIS PIGMENTOSA 50 (OMIM:613194)
..expandRETINITIS PIGMENTOSA 51 (OMIM:613464)
..expandRETINITIS PIGMENTOSA 54 (OMIM:613428)
..expandRETINITIS PIGMENTOSA 55 (OMIM:613575)
..expandRETINITIS PIGMENTOSA 56 (OMIM:613581)
..expandRETINITIS PIGMENTOSA 57 (OMIM:613582)
..expandRETINITIS PIGMENTOSA 58 (OMIM:613617)
..expandRETINITIS PIGMENTOSA 59 (OMIM:613861)
..expandRetinitis Pigmentosa 6 (C564065)
..expandRETINITIS PIGMENTOSA 60 (OMIM:613983)
..expandRETINITIS PIGMENTOSA 61 (OMIM:614180)
..expandRETINITIS PIGMENTOSA 62 (OMIM:614181)
..expandRETINITIS PIGMENTOSA 66 (OMIM:615233)
..expandRETINITIS PIGMENTOSA 67 (OMIM:615565)
..expandRETINITIS PIGMENTOSA 68 (OMIM:615725)
..expandRETINITIS PIGMENTOSA 69 (OMIM:615780)
..expandRetinitis Pigmentosa 7 (C564284)
..expandRetinitis Pigmentosa 7 With Bull'S-Eye Maculopathy (C567264)
..expandRetinitis Pigmentosa 7, Digenic (C567263)
..expandRETINITIS PIGMENTOSA 70 (OMIM:615922)
..expandRETINITIS PIGMENTOSA 71 (OMIM:616394)
..expandRETINITIS PIGMENTOSA 72 (OMIM:616469)
..expandRETINITIS PIGMENTOSA 73 (OMIM:616544)
..expandRETINITIS PIGMENTOSA 74 (OMIM:616562)
..expandRETINITIS PIGMENTOSA 75 (OMIM:617023)
..expandRETINITIS PIGMENTOSA 76 (OMIM:617123)
..expandRETINITIS PIGMENTOSA 77 (OMIM:617304)
..expandRETINITIS PIGMENTOSA 78 (OMIM:617433)
..expandRETINITIS PIGMENTOSA 79 (OMIM:617460)
..expandRETINITIS PIGMENTOSA 82 WITH OR WITHOUT SITUS INVERSUS (OMIM:615434)
..expandRetinitis Pigmentosa 9 (C566716)
..expandRETINITIS PIGMENTOSA AND ERYTHROCYTIC MICROCYTOSIS (OMIM:616959)
..expandRetinitis Pigmentosa Inversa with Deafness (C564842)
..expandRetinitis Pigmentosa with Paraarteriolar Preservation Of Retinal Pigment Epithelium (C564000)
..expandRetinitis Pigmentosa, Concentric (C567712)
..expandRetinitis Pigmentosa, Deafness, Mental Retardation, and Hypogonadism (C564841)
..expandRetinitis Pigmentosa, Late-Adult Onset (C564840)
..expandRetinitis Pigmentosa, Late-Onset Dominant (C567369)
..expandRetinitis Pigmentosa, X-Linked, And Sinorespiratory Infections, With Or Without Deafness (C567595)
..expandRetinitis Pigmentosa, Y-Linked (C564035)
..expandRetinopathy, Pericentral Pigmentary, Autosomal Recessive (C564838)
..expandRhizomelic dysplasia, scoliosis, and retinitis pigmentosa (C537610)
..expandRHYNS syndrome (C537612)
..expandRod-Cone Dystrophy, Sensorineural Deafness, and Fanconi-Type Renal Dysfunction (C564829)
..expandSenior-Loken syndrome 4 (C537581)
..expandSkeletal Dysplasia, Rhizomelic, with Retinitis Pigmentosa (C563806)
..expandSpastic Quadriplegia, Retinitis Pigmentosa, and Mental Retardation (C564808)
..expandSpondylometaphyseal Dysplasia with Cone-Rod Dystrophy (C563825)
..expandTapetoretinal Degeneration with Ataxia (C564788)
..expandUsher Syndromes (D052245) Child19  LSDB  L: 00160;
   

Human Disease MESH is developed by UMLS.
Further data from MedGen, OMIM,ClinVar, CTD
Term ID:2853
Name:Cone-Rod Dystrophy 3
Definition:
Alternative IDs:OMIM:604116
ParentIDs:MESH:D012174
TreeNumbers:C11.270.684/C565827 |C11.768.585.658.500/C565827 |C16.320.290.684/C565827
Synonyms:CORD3
Slim Mappings:Eye disease|Genetic disease (inborn)
Reference: MedGen: C565827
MeSH: C565827
OMIM: 604116;
MSeqDR LSDB:  
Genes: ABCA4;
Phenotypes
1 HP:0000551Abnormality of color vision Infantile onset
2 HP:0000603Central scotoma Infantile onset
3 HP:0000548Cone/cone-rod dystrophy
4 HP:0000572Visual loss Infantile onset
Disease Causing ClinVar Variants
Variation_NameGeneIDGeneSymbolClinicalSignificancedbSNPRCVaccessionTestedInGTRPhenotypeIDsChromosomeStartStopHGVS_cHGVS_pHGVS_gOtherIDsDisease_ClinVar
NM_000350.3(ABCA4):c.6820T>A (p.Ter2274Arg)24ABCA4Uncertain significancers1658918432RCV001269028; NMONDO:MONDO:0011395,MedGen:C1858806,OMIM:604116, Orphanet:187219445879594458795AT1:g.94458795A>T-
NM_000350.3(ABCA4):c.6729+5_6729+19del24ABCA4Pathogenic/Likely pathogenicrs749526785RCV000416441|RCV000497773|RCV000504933|RCV000678515|RCV001074704|RCV001542553; NMONDO:MONDO:0011395,MedGen:C1858806,OMIM:604116, Orphanet:1872|MedGen:CN517202|Human Phenotype Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000, Orphanet:791|MONDO:MONDO:0011137,MedGen:C1866422,OMIM:601718,Orp19446339894463412GTGCCCCAGGGCCAACG1:g.94463398_94463412delClinGen:CA501163C1858806 604116 Cone-rod dystrophy 3;
NM_000350.3(ABCA4):c.6232A>C (p.Lys2078Gln)24ABCA4Likely pathogenicrs951379922RCV000658512|RCV000787011; NMedGen:CN517202|MONDO:MONDO:0011395,MedGen:C1858806,OMIM:604116, Orphanet:187219446746494467464TGNC_000001.10:g.94467464T>G-CN517202 not provided;
NM_000350.3(ABCA4):c.6221G>T (p.Gly2074Val)24ABCA4Conflicting interpretations of pathogenicityrs367839100RCV000850519|RCV001074418|RCV001262439|RCV001234782|RCV002051899; NMONDO:MONDO:0009549,MeSH:D000080362,MedGen:C1855465,OMIM:248200, Orphanet:364055, Orphanet:827; MONDO:MONDO:0011137,MedGen:C1866422,OMIM:601718, Orphanet:791; MONDO:MONDO:0011395,MedGen:C1858806,OMIM:604116, Orphanet:1872|Human Phenotype Ontology:HP:0000556,H19446747594467475CA1:g.94467475C>A-
NM_000350.3(ABCA4):c.6118C>T (p.Arg2040Ter)24ABCA4Pathogenicrs61753038RCV000085790|RCV000763435|RCV000787772|RCV001073783; NMedGen:CN517202|MONDO:MONDO:0011395,MedGen:C1858806,OMIM:604116, Orphanet:1872; MONDO:MONDO:0007932,MedGen:C3495438,OMIM:153800; MONDO:MONDO:0009549,MeSH:D000080362,MedGen:C1855465,OMIM:248200, Orphanet:364055, Orphanet:827; MONDO:MONDO:0011137,MedGen:C18664219447102694471026GANC_000001.10:g.94471026G>AClinGen:CA227369CN517202 not provided;
NM_000350.3(ABCA4):c.6079C>T (p.Leu2027Phe)24ABCA4Pathogenic/Likely pathogenicrs61751408RCV000008332|RCV000008333|RCV000085785|RCV000763438|RCV000826132|RCV001074885; NMONDO:MONDO:0009549,MeSH:D000080362,MedGen:C1855465,OMIM:248200, Orphanet:364055, Orphanet:827|MONDO:MONDO:0011395,MedGen:C1858806,OMIM:604116, Orphanet:1872|MedGen:CN517202|MONDO:MONDO:0009549,MeSH:D000080362,MedGen:C1855465,OMIM:248200, Orphanet:364055,Or19447106594471065GANC_000001.10:g.94471065G>AClinGen:CA119129,UniProtKB:P78363#VAR_008478,OMIM:601691.0004C1858806 604116 Cone-rod dystrophy 3;
NM_000350.3(ABCA4):c.6077T>C (p.Leu2026Pro)24ABCA4Likely pathogenicrs886044758RCV000408446|RCV000480932|RCV000763439; NMONDO:MONDO:0009549,MeSH:D000080362,MedGen:C1855465,OMIM:248200, Orphanet:364055, Orphanet:827|MedGen:CN517202|MONDO:MONDO:0011395,MedGen:C1858806,OMIM:604116, Orphanet:1872; MONDO:MONDO:0011137,MedGen:C1866422,OMIM:601718, Orphanet:791; MONDO:MONDO:0009549,M19447106794471067AG1:g.94471067A>GClinGen:CA10602410CN517202 not provided;
NM_000350.3(ABCA4):c.5899-1G>T24ABCA4Pathogenicrs1553187160RCV000625600; NMONDO:MONDO:0011395,MedGen:C1858806,OMIM:604116, Orphanet:187219447329794473297CA1:g.94473297C>AClinGen:CA341279757C1858806 604116 Cone-rod dystrophy 3;
NM_000350.3(ABCA4):c.5882G>A (p.Gly1961Glu)24ABCA4Conflicting interpretations of pathogenicityrs1800553RCV000008339|RCV000008340|RCV000008341|RCV000078670|RCV000273328|RCV000504952|RCV000505149|RCV000678513|RCV000624210|RCV000787514|RCV001254602|RCV001258239|RCV001542557|RCV001731281|RCV001807001; N|MONDO:MONDO:0009549,MeSH:D000080362,MedGen:C1855465,OMIM:248200, Orphanet:364055, Orphanet:827|MONDO:MONDO:0011395,MedGen:C1858806,OMIM:604116, Orphanet:1872|MedGen:CN517202|MedGen:CN239167|Human Phenotype Ontology:HP:0007638,Human Phenotype Ontology:HP:019447380794473807CTNC_000001.10:g.94473807C>TClinGen:CA119132,UniProtKB:P78363#VAR_008475,OMIM:601691.0007,ClinVar:424760,ClinVar:635154CN239167 ABCA4-Related Disorders;
NM_000350.3(ABCA4):c.5836-11G>A24ABCA4Benign/Likely benignrs1800739RCV000085763|RCV000152715|RCV000281163|RCV000313494|RCV000336246|RCV000407106|RCV001096229|RCV001548898|RCV001548896|RCV001548897|RCV001548899; NMedGen:CN517202|MedGen:CN169374|MedGen:CN239312|MedGen:CN239309|Human Phenotype Ontology:HP:0000608,Human Phenotype Ontology:HP:0007694,MONDO:MONDO:0003004,MedGen:C0024437|MedGen:CN239466|MedGen:CN239167|MONDO:MONDO:0011395,MedGen:C1858806,OMIM:604116,O19447386494473864CT1:g.94473864C>TClinGen:CA179698CN239309 Cone-Rod Dystrophy, Recessive;
NM_000350.3(ABCA4):c.5836-43C>A24ABCA4Benignrs2275031RCV000242440|RCV001541669|RCV001548901|RCV001548900|RCV001549134|RCV001549135; NMedGen:CN169374|MedGen:CN517202|MONDO:MONDO:0011137,MedGen:C1866422,OMIM:601718, Orphanet:791|MONDO:MONDO:0009549,MeSH:D000080362,MedGen:C1855465,OMIM:248200, Orphanet:364055, Orphanet:827|MONDO:MONDO:0011395,MedGen:C1858806,OMIM:604116, Orphanet:1872|MONDO19447389694473896GT1:g.94473896G>TClinGen:CA957105CN169374 not specified;
NM_000350.3(ABCA4):c.5819T>C (p.Leu1940Pro)24ABCA4Pathogenic/Likely pathogenicrs61753033RCV000008370|RCV000008372|RCV000008371|RCV000085762; NMONDO:MONDO:0019353,MedGen:C0271093, Orphanet:827|MONDO:MONDO:0011395,MedGen:C1858806,OMIM:604116, Orphanet:1872|MONDO:MONDO:0009549,MeSH:D000080362,MedGen:C1855465,OMIM:248200, Orphanet:364055, Orphanet:827|MedGen:CN51720219447432394474323AG1:g.94474323A>GClinGen:CA119145,UniProtKB:P78363#VAR_012602,OMIM:601691.0033C1858806 604116 Cone-rod dystrophy 3;
NM_000350.3(ABCA4):c.5714+5G>A24ABCA4Pathogenic/Likely pathogenicrs61751407RCV000085757|RCV000210303|RCV000210321|RCV000332324|RCV000515694|RCV000845081|RCV000778997|RCV001074898|RCV001196124; NMedGen:CN517202|MONDO:MONDO:0011137,MedGen:C1866422,OMIM:601718, Orphanet:791|MONDO:MONDO:0009549,MeSH:D000080362,MedGen:C1855465,OMIM:248200, Orphanet:364055, Orphanet:827|MONDO:MONDO:0011395,MedGen:C1858806,OMIM:604116, Orphanet:1872|MONDO:MONDO:0019353,M19447635194476351CTNC_000001.10:g.94476351C>TClinVar:1048131,ClinGen:CA227338,OMIM:601691.0010C1858806 604116 Cone-rod dystrophy 3;
NM_000350.3(ABCA4):c.5461-10T>C24ABCA4Pathogenic/Likely pathogenicrs1800728RCV000008366|RCV000078669|RCV000210327|RCV000177965|RCV000210325|RCV000504857|RCV000678511|RCV000763440|RCV000787510|RCV000787771|RCV001000430|RCV001542559; NMONDO:MONDO:0011395,MedGen:C1858806,OMIM:604116, Orphanet:1872|MedGen:CN517202|Human Phenotype Ontology:HP:0000556,Human Phenotype Ontology:HP:0007736,Human Phenotype Ontology:HP:0007910,Human Phenotype Ontology:HP:0007974,Human Phenotype Ontology:HP:00019447695194476951AGNC_000001.10:g.94476951A>GOMIM:601691.0030,ClinGen:CA220687,ClinVar:1048134C3495438 153800 Age-related macular degeneration 2;
NM_000350.3(ABCA4):c.5333T>A (p.Met1778Lys)24ABCA4Likely pathogenicrs748706582RCV000256375|RCV001859496; NMONDO:MONDO:0011395,MedGen:C1858806,OMIM:604116, Orphanet:1872|MedGen:CN51720219448022694480226AT1:g.94480226A>TClinGen:CA10588919C1858806 604116 Cone-rod dystrophy 3;
NM_000350.3(ABCA4):c.5285C>A (p.Ala1762Asp)24ABCA4Pathogenicrs121909206RCV000008367|RCV000008368; NMONDO:MONDO:0011395,MedGen:C1858806,OMIM:604116, Orphanet:1872|MONDO:MONDO:0009549,MeSH:D000080362,MedGen:C1855465,OMIM:248200, Orphanet:364055, Orphanet:82719448132294481322GT1:g.94481322G>TClinGen:CA119142,OMIM:601691.0031C1858806 604116 Cone-rod dystrophy 3;
NM_000350.3(ABCA4):c.4773+48C>T24ABCA4Benignrs472908RCV000085672|RCV000244871|RCV001549173|RCV001549174|RCV001549171|RCV001549172; NMedGen:CN517202|MedGen:CN169374|MONDO:MONDO:0011395,MedGen:C1858806,OMIM:604116, Orphanet:1872|MONDO:MONDO:0007932,MedGen:C3495438,OMIM:153800|MONDO:MONDO:0009549,MeSH:D000080362,MedGen:C1855465,OMIM:248200, Orphanet:364055, Orphanet:827|MONDO:MONDO:00111319448735494487354GA1:g.94487354G>AClinGen:CA227237CN517202 not provided;
NM_000350.3(ABCA4):c.4696C>T (p.Leu1566Phe)24ABCA4Uncertain significancers377398404RCV000786954|RCV001869182; NMONDO:MONDO:0011395,MedGen:C1858806,OMIM:604116, Orphanet:1872|MedGen:CN51720219448747994487479GA1:g.94487479G>A-
NM_000350.3(ABCA4):c.4567C>T (p.Gln1523Ter)24ABCA4Pathogenicrs1553188916RCV000625606|RCV001860463; NMONDO:MONDO:0011395,MedGen:C1858806,OMIM:604116, Orphanet:1872|MedGen:CN51720219449057794490577GANC_000001.10:g.94490577G>AClinGen:CA341284696C1858806 604116 Cone-rod dystrophy 3;
NM_000350.3(ABCA4):c.4539+1G>T24ABCA4Pathogenicrs61751388RCV000008343|RCV000008344|RCV000085647|RCV001723666; NMONDO:MONDO:0011137,MedGen:C1866422,OMIM:601718, Orphanet:791|MONDO:MONDO:0011395,MedGen:C1858806,OMIM:604116, Orphanet:1872|MedGen:CN517202|Human Phenotype Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000,Orp19449500094495000CA1:g.94495000C>AClinGen:CA227207,OMIM:601691.0009C1858806 604116 Cone-rod dystrophy 3;
NM_000350.3(ABCA4):c.4352+54A>G24ABCA4Benign-1RCV001549177|RCV001549178|RCV001549176|RCV001549175|RCV001713032; NMONDO:MONDO:0011395,MedGen:C1858806,OMIM:604116, Orphanet:1872|MONDO:MONDO:0007932,MedGen:C3495438,OMIM:153800|MONDO:MONDO:0011137,MedGen:C1866422,OMIM:601718, Orphanet:791|MONDO:MONDO:0009549,MeSH:D000080362,MedGen:C1855465,OMIM:248200, Orphanet:364055,Or19449593094495930TC94495930-
NM_000350.3(ABCA4):c.4128+156C>T24ABCA4Benignrs4147841RCV000838362|RCV001549179|RCV001549180|RCV001548780|RCV001548781; NMedGen:CN517202|MONDO:MONDO:0009549,MeSH:D000080362,MedGen:C1855465,OMIM:248200, Orphanet:364055, Orphanet:827|MONDO:MONDO:0011137,MedGen:C1866422,OMIM:601718, Orphanet:791|MONDO:MONDO:0011395,MedGen:C1858806,OMIM:604116, Orphanet:1872|MONDO:MONDO:0007932,M19449717894497178GA1:g.94497178G>A-
NM_000350.3(ABCA4):c.3996G>T (p.Gln1332His)24ABCA4Uncertain significancers765176802RCV001336808; NMONDO:MONDO:0011395,MedGen:C1858806,OMIM:604116, Orphanet:187219449746694497466CA94497466-
NM_000350.3(ABCA4):c.3602T>G (p.Leu1201Arg)24ABCA4Conflicting interpretations of pathogenicityrs61750126RCV000008361|RCV000085583|RCV000176456|RCV000343774|RCV000401597|RCV000340328|RCV000308786|RCV000408567|RCV001096421; NMONDO:MONDO:0011395,MedGen:C1858806,OMIM:604116, Orphanet:1872|MedGen:CN517202|MedGen:CN169374|MedGen:CN239309|Human Phenotype Ontology:HP:0000608,Human Phenotype Ontology:HP:0007694,MONDO:MONDO:0003004,MedGen:C0024437|MedGen:CN239466|MedGen:CN239312|MON19450560494505604AC1:g.94505604A>CClinGen:CA119137,UniProtKB:P78363#VAR_008440,OMIM:601691.0025C1858806 604116 Cone-rod dystrophy 3;
NM_000350.3(ABCA4):c.3540_3555del (p.Ser1181fs)24ABCA4Pathogenicrs387906388RCV000008369; NMONDO:MONDO:0011395,MedGen:C1858806,OMIM:604116, Orphanet:187219450565194505666TGGAGAAACCCTTAGACTNC_000001.10:g.94505652_94505667delClinGen:CA119144,OMIM:601691.0032C1858806 604116 Cone-rod dystrophy 3;
NM_000350.3(ABCA4):c.3386G>T (p.Arg1129Leu)24ABCA4Pathogenic/Likely pathogenicrs1801269RCV000085576|RCV000408578|RCV000763045|RCV001075726|RCV001199211; NMedGen:CN517202|MONDO:MONDO:0009549,MeSH:D000080362,MedGen:C1855465,OMIM:248200, Orphanet:364055, Orphanet:827|MONDO:MONDO:0011395,MedGen:C1858806,OMIM:604116, Orphanet:1872; MONDO:MONDO:0007932,MedGen:C3495438,OMIM:153800; MONDO:MONDO:0009549,MeSH:D0000803619450690194506901CA1:g.94506901C>AClinGen:CA227116,UniProtKB:P78363#VAR_008439CN517202 not provided;
NM_000350.3(ABCA4):c.3344T>G (p.Met1115Arg)24ABCA4Likely pathogenic-1RCV001591906; NMONDO:MONDO:0011395,MedGen:C1858806,OMIM:604116, Orphanet:187219450694394506943AC94506943-
NM_000350.3(ABCA4):c.3113C>T (p.Ala1038Val)24ABCA4Pathogenic/Likely pathogenicrs61751374RCV000008350|RCV000008348|RCV000085549|RCV000505109|RCV000778259|RCV000763046|RCV000787493|RCV000787494|RCV000787495|RCV001000014|RCV001196125; NMONDO:MONDO:0011395,MedGen:C1858806,OMIM:604116, Orphanet:1872|MONDO:MONDO:0009549,MeSH:D000080362,MedGen:C1855465,OMIM:248200, Orphanet:364055, Orphanet:827|MedGen:CN517202|Human Phenotype Ontology:HP:0000556,Human Phenotype Ontology:HP:0007736,Human Phen19450896994508969GANC_000001.10:g.94508969G>AClinGen:CA119135,UniProtKB:P78363#VAR_008433,OMIM:601691.0016,OMIM:601691.0023,ClinVar:7901C1858806 604116 Cone-rod dystrophy 3;
NM_000350.3(ABCA4):c.3093del (p.Gly1032fs)24ABCA4Pathogenicrs886044735RCV000449544|RCV000408456|RCV001543589; NMONDO:MONDO:0011395,MedGen:C1858806,OMIM:604116, Orphanet:1872|MONDO:MONDO:0009549,MeSH:D000080362,MedGen:C1855465,OMIM:248200, Orphanet:364055, Orphanet:827|MedGen:CN51720219450898994508989CTCNC_000001.10:g.94508991delClinGen:CA10602439C1858806 604116 Cone-rod dystrophy 3;
NM_000350.3(ABCA4):c.3062del (p.Ala1021fs)24ABCA4Pathogenicrs1570373408RCV001029969|RCV001312082; NMONDO:MONDO:0011395,MedGen:C1858806,OMIM:604116, Orphanet:1872|MedGen:CN51720219450902094509020AGA1:g.94509020_94509020del-
NM_000350.3(ABCA4):c.2888del (p.Gly963fs)24ABCA4Pathogenicrs61752410RCV000008363|RCV000085520|RCV000986365; NMONDO:MONDO:0011395,MedGen:C1858806,OMIM:604116, Orphanet:1872|MedGen:CN517202|MONDO:MONDO:0009549,MeSH:D000080362,MedGen:C1855465,OMIM:248200, Orphanet:364055, Orphanet:82719451250594512505GCG1:g.94512505_94512505delClinGen:CA119138,OMIM:601691.0027C1858806 604116 Cone-rod dystrophy 3;
NM_000350.3(ABCA4):c.2616_2617del (p.Phe873fs)24ABCA4Pathogenicrs62642560RCV000008360|RCV000085495; NMONDO:MONDO:0011395,MedGen:C1858806,OMIM:604116, Orphanet:1872|MedGen:CN51720219451722594517226AAGA1:g.94517225_94517226delClinGen:CA119136,OMIM:601691.0024C1858806 604116 Cone-rod dystrophy 3;
NM_000350.3(ABCA4):c.2588G>C (p.Gly863Ala)24ABCA4Conflicting interpretations of pathogenicityrs76157638RCV000008328|RCV000008329|RCV000085494|RCV000415097|RCV000505063|RCV000623365|RCV000787487|RCV000787768|RCV000787486|RCV001198385|RCV001535670; NMONDO:MONDO:0009549,MeSH:D000080362,MedGen:C1855465,OMIM:248200, Orphanet:364055, Orphanet:827|MONDO:MONDO:0011395,MedGen:C1858806,OMIM:604116, Orphanet:1872|MedGen:CN517202|Human Phenotype Ontology:HP:0001103,MedGen:C4520679; Human Phenotype Ontology:HP:0019451725494517254CGNC_000001.10:g.94517254C>GClinGen:CA119128,UniProtKB:P78363#VAR_008425,OMIM:601691.0001,ClinVar:236091,ClinVar:236092,ClinVar:424760,ClinVar:1048132C0730362 Abnormal macular morphology;
NM_000350.3(ABCA4):c.1964T>G (p.Phe655Cys)24ABCA4Pathogenic/Likely pathogenicrs200692438RCV000194199|RCV000408459|RCV001071977|RCV001075570; NMONDO:MONDO:0011395,MedGen:C1858806,OMIM:604116, Orphanet:1872; MONDO:MONDO:0009549,MeSH:D000080362,MedGen:C1855465,OMIM:248200, Orphanet:364055, Orphanet:827|MONDO:MONDO:0009549,MeSH:D000080362,MedGen:C1855465,OMIM:248200, Orphanet:364055, Orphanet:827|MedGe19452628994526289AC1:g.94526289A>CClinGen:CA347415C1858806 604116 Cone-rod dystrophy 3;
NM_000350.3(ABCA4):c.1958G>T (p.Arg653Leu)24ABCA4Likely pathogenicrs141823837RCV000786893|RCV001002840; NMONDO:MONDO:0011395,MedGen:C1858806,OMIM:604116, Orphanet:1872|MONDO:MONDO:0019353,MedGen:C0271093, Orphanet:82719452629594526295CA1:g.94526295C>A-
NM_000350.3(ABCA4):c.1819G>C (p.Gly607Arg)24ABCA4Pathogenicrs61749412RCV000625951|RCV001239085; NMONDO:MONDO:0011395,MedGen:C1858806,OMIM:604116, Orphanet:1872|MedGen:CN51720219452825194528251CGNC_000001.10:g.94528251C>GClinGen:CA341279593C1858806 604116 Cone-rod dystrophy 3;
NM_000350.3(ABCA4):c.1765del (p.Trp589fs)24ABCA4Pathogenicrs1557787559RCV000754585|RCV001008622; NMONDO:MONDO:0011395,MedGen:C1858806,OMIM:604116, Orphanet:1872|MedGen:CN51720219452830594528305CACNC_000001.10:g.94528306del-
NM_000350.3(ABCA4):c.1749G>C (p.Lys583Asn)24ABCA4Conflicting interpretations of pathogenicityrs145265791RCV001005006|RCV001075802|RCV001377733; NMONDO:MONDO:0011395,MedGen:C1858806,OMIM:604116, Orphanet:1872|Human Phenotype Ontology:HP:0000556,Human Phenotype Ontology:HP:0007736,Human Phenotype Ontology:HP:0007910,Human Phenotype Ontology:HP:0007974,Human Phenotype Ontology:HP:0007982,MONDO:MONDO19452867994528679CG1:g.94528679C>G-
NM_000350.3(ABCA4):c.1676G>A (p.Trp559Ter)24ABCA4Likely pathogenicrs1570393848RCV000787010; NMONDO:MONDO:0011395,MedGen:C1858806,OMIM:604116, Orphanet:187219452875294528752CT1:g.94528752C>T-
NM_000350.3(ABCA4):c.1648G>A (p.Gly550Arg)24ABCA4Pathogenic/Likely pathogenicrs61748558RCV000085413|RCV000763048|RCV000761253|RCV000778263|RCV000782281|RCV001074836; NMedGen:CN517202|MONDO:MONDO:0011395,MedGen:C1858806,OMIM:604116, Orphanet:1872; MONDO:MONDO:0007932,MedGen:C3495438,OMIM:153800; MONDO:MONDO:0009549,MeSH:D000080362,MedGen:C1855465,OMIM:248200, Orphanet:364055, Orphanet:827; MONDO:MONDO:0011137,MedGen:C18664219452878094528780CTNC_000001.10:g.94528780C>TUniProtKB:P78363#VAR_012521,ClinGen:CA226915CN517202 not provided;
NM_000350.3(ABCA4):c.1339C>T (p.Gln447Ter)24ABCA4Likely pathogenicrs886039882RCV000256405|RCV000487508; NMONDO:MONDO:0011395,MedGen:C1858806,OMIM:604116, Orphanet:1872|MedGen:CN51720219454416394544163GANC_000001.10:g.94544163G>AClinGen:CA10588920C1858806 604116 Cone-rod dystrophy 3;
NM_000350.3(ABCA4):c.1240-65del24ABCA4Benign-1RCV001548789|RCV001548786|RCV001548787|RCV001548788|RCV001619970; NMONDO:MONDO:0007932,MedGen:C3495438,OMIM:153800|MONDO:MONDO:0009549,MeSH:D000080362,MedGen:C1855465,OMIM:248200, Orphanet:364055, Orphanet:827|MONDO:MONDO:0011137,MedGen:C1866422,OMIM:601718, Orphanet:791|MONDO:MONDO:0011395,MedGen:C1858806,OMIM:604116,Orp19454432794544327GTG94544326-
NM_000350.3(ABCA4):c.1140T>A (p.Asn380Lys)24ABCA4Uncertain significancers61748549RCV000085376|RCV000764205|RCV000986372|RCV001073759|RCV001096640|RCV001257823; NMedGen:CN517202|MONDO:MONDO:0007932,MedGen:C3495438,OMIM:153800; MONDO:MONDO:0009549,MeSH:D000080362,MedGen:C1855465,OMIM:248200, Orphanet:364055, Orphanet:827; MONDO:MONDO:0011395,MedGen:C1858806,OMIM:604116, Orphanet:1872; MONDO:MONDO:0011137,MedGen:C18664219454497794544977AT1:g.94544977A>TClinGen:CA226872,UniProtKB:P78363#VAR_012516CN517202 not provided;
NM_000350.3(ABCA4):c.838A>T (p.Met280Leu)24ABCA4Conflicting interpretations of pathogenicityrs138682163RCV000255612|RCV000764206; NMedGen:CN517202|MONDO:MONDO:0011395,MedGen:C1858806,OMIM:604116, Orphanet:1872; MONDO:MONDO:0011137,MedGen:C1866422,OMIM:601718, Orphanet:791; MONDO:MONDO:0007932,MedGen:C3495438,OMIM:153800; MONDO:MONDO:0009549,MeSH:D000080362,MedGen:C1855465,OMIM:248200,Or19454892894548928TA1:g.94548928T>AClinGen:CA958711CN169374 not specified;
NM_000350.3(ABCA4):c.763C>T (p.Arg255Cys)24ABCA4Uncertain significancers62645952RCV000132594|RCV001857474; NMONDO:MONDO:0011395,MedGen:C1858806,OMIM:604116, Orphanet:1872|MedGen:CN51720219456435594564355GA1:g.94564355G>AClinGen:CA170081C1858806 604116 Cone-rod dystrophy 3;
NM_000350.3(ABCA4):c.735T>G (p.Tyr245Ter)24ABCA4Pathogenic/Likely pathogenicrs1662208035RCV001240591|RCV001352995; NMedGen:CN517202|MONDO:MONDO:0011395,MedGen:C1858806,OMIM:604116, Orphanet:187219456438394564383AC1:g.94564383A>C-
NM_000350.3(ABCA4):c.727_728dup (p.Tyr245fs)24ABCA4Likely pathogenicrs1662208443RCV001352954; NMONDO:MONDO:0011395,MedGen:C1858806,OMIM:604116, Orphanet:187219456438994564390AAGT94564389-
NM_000350.3(ABCA4):c.716G>A (p.Trp239Ter)24ABCA4Pathogenicrs755733328RCV000735700; NMONDO:MONDO:0011395,MedGen:C1858806,OMIM:604116, Orphanet:187219456440294564402CTNC_000001.10:g.94564402C>T-
NM_000350.3(ABCA4):c.634C>T (p.Arg212Cys)24ABCA4Pathogenic/Likely pathogenicrs61750200RCV000008355|RCV000085812|RCV000179293|RCV000763050|RCV000787521|RCV001074780; NMONDO:MONDO:0009549,MeSH:D000080362,MedGen:C1855465,OMIM:248200, Orphanet:364055, Orphanet:827|MedGen:CN517202|MONDO:MONDO:0011395,MedGen:C1858806,OMIM:604116, Orphanet:1872|MONDO:MONDO:0009549,MeSH:D000080362,MedGen:C1855465,OMIM:248200, Orphanet:364055,Or19456448494564484GANC_000001.10:g.94564484G>AClinGen:CA203216,UniProtKB:P78363#VAR_008406,OMIM:601691.0020C1858806 604116 Cone-rod dystrophy 3;
NM_000350.3(ABCA4):c.571-2A>T24ABCA4Likely pathogenicrs61748534RCV001352971; NMONDO:MONDO:0011395,MedGen:C1858806,OMIM:604116, Orphanet:187219456454994564549TA94564549-
NM_000350.3(ABCA4):c.370C>T (p.Arg124Cys)24ABCA4Uncertain significancers138359497RCV000416105|RCV000764208; NMedGen:CN517202|MONDO:MONDO:0011137,MedGen:C1866422,OMIM:601718, Orphanet:791; MONDO:MONDO:0007932,MedGen:C3495438,OMIM:153800; MONDO:MONDO:0011395,MedGen:C1858806,OMIM:604116, Orphanet:1872; MONDO:MONDO:0009549,MeSH:D000080362,MedGen:C1855465,OMIM:248200,Or19457420594574205GA1:g.94574205G>AClinGen:CA958855CN517202 not provided;
NM_000350.3(ABCA4):c.179C>T (p.Ala60Val)24ABCA4Pathogenic/Likely pathogenicrs55732384RCV000085427|RCV000408452|RCV000763051|RCV001073359; NMedGen:CN517202|MONDO:MONDO:0009549,MeSH:D000080362,MedGen:C1855465,OMIM:248200, Orphanet:364055, Orphanet:827|MONDO:MONDO:0011395,MedGen:C1858806,OMIM:604116, Orphanet:1872; MONDO:MONDO:0007932,MedGen:C3495438,OMIM:153800; MONDO:MONDO:0009549,MeSH:D0000803619457711794577117GA1:g.94577117G>AClinGen:CA226931,UniProtKB:P78363#VAR_008492CN517202 not provided;
NM_000350.3(ABCA4):c.141A>G (p.Pro47=)24ABCA4Benignrs4847281RCV000152712|RCV001510949|RCV001548794|RCV001548795|RCV001548902|RCV001548903; NMedGen:CN169374|MedGen:CN517202|MONDO:MONDO:0009549,MeSH:D000080362,MedGen:C1855465,OMIM:248200, Orphanet:364055, Orphanet:827|MONDO:MONDO:0011137,MedGen:C1866422,OMIM:601718, Orphanet:791|MONDO:MONDO:0011395,MedGen:C1858806,OMIM:604116, Orphanet:1872|MONDO19457854894578548TC1:g.94578548T>CClinGen:CA179694CN169374 not specified;
MSeqDR Portal