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
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Cone-Rod Dystrophy 5 (C563415)

       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:2854
Name:Cone-Rod Dystrophy 5
Definition:
Alternative IDs:OMIM:600977
ParentIDs:MESH:D012174
TreeNumbers:C11.270.684/C563415 |C11.768.585.658.500/C563415 |C16.320.290.684/C563415
Synonyms:CORD5
Slim Mappings:Eye disease|Genetic disease (inborn)
Reference: MedGen: C563415
MeSH: C563415
OMIM: 600977;
MSeqDR LSDB:  
Genes: PITPNM3;
Phenotypes
1 HP:0000006Autosomal dominant inheritance
2 HP:0000551Abnormality of color vision
3 HP:0000548Cone/cone-rod dystrophy
4 HP:0000608Macular degeneration
5 HP:0000613Photophobia
6 HP:0007663Reduced visual acuity
Disease Causing ClinVar Variants
Variation_NameGeneIDGeneSymbolClinicalSignificancedbSNPRCVaccessionTestedInGTRPhenotypeIDsChromosomeStartStopHGVS_cHGVS_pHGVS_gOtherIDsDisease_ClinVar
NM_031220.4(PITPNM3):c.*4047C>T83394PITPNM3Uncertain significancers886053274RCV000293177; NMONDO:MONDO:0010969,MedGen:C1832976,OMIM:600977, Orphanet:18721763546116354611GA17:g.6354611G>AClinGen:CA10640251CN239348 Cone-Rod Dystrophy, Dominant;
NM_031220.4(PITPNM3):c.*3878G>A83394PITPNM3Benignrs56787229RCV000338826; NMONDO:MONDO:0010969,MedGen:C1832976,OMIM:600977, Orphanet:18721763547806354780CT17:g.6354780C>TClinGen:CA10640252CN239348 Cone-Rod Dystrophy, Dominant;
NM_031220.4(PITPNM3):c.*3762C>T83394PITPNM3Uncertain significancers918411536RCV001125843; NMONDO:MONDO:0010969,MedGen:C1832976,OMIM:600977, Orphanet:18721763548966354896GA17:g.6354896G>A-
NM_031220.4(PITPNM3):c.*3734G>A83394PITPNM3Benignrs145961702RCV001125844; NMONDO:MONDO:0010969,MedGen:C1832976,OMIM:600977, Orphanet:18721763549246354924CT17:g.6354924C>T-
NM_031220.4(PITPNM3):c.*3723G>A83394PITPNM3Benignrs371539500RCV001125845; NMONDO:MONDO:0010969,MedGen:C1832976,OMIM:600977, Orphanet:18721763549356354935CT17:g.6354935C>T-
NM_031220.4(PITPNM3):c.*3708G>A83394PITPNM3Benignrs574669515RCV000406584; NMONDO:MONDO:0010969,MedGen:C1832976,OMIM:600977, Orphanet:18721763549506354950CT17:g.6354950C>TClinGen:CA10650687CN239348 Cone-Rod Dystrophy, Dominant;
NM_031220.4(PITPNM3):c.*3707G>A83394PITPNM3Uncertain significancers553844137RCV000280101; NMONDO:MONDO:0010969,MedGen:C1832976,OMIM:600977, Orphanet:18721763549516354951CT17:g.6354951C>TClinGen:CA10650688CN239348 Cone-Rod Dystrophy, Dominant;
NM_031220.4(PITPNM3):c.*3706G>C83394PITPNM3Uncertain significancers886053275RCV000335251; NMONDO:MONDO:0010969,MedGen:C1832976,OMIM:600977, Orphanet:18721763549526354952CG17:g.6354952C>GClinGen:CA10649857CN239348 Cone-Rod Dystrophy, Dominant;
NM_031220.4(PITPNM3):c.*3693A>G83394PITPNM3Benignrs3169862RCV000397862; NMONDO:MONDO:0010969,MedGen:C1832976,OMIM:600977, Orphanet:18721763549656354965TC17:g.6354965T>CClinGen:CA10646506CN239348 Cone-Rod Dystrophy, Dominant;
NM_031220.4(PITPNM3):c.*3685A>C83394PITPNM3Benignrs572030994RCV001125846; NMONDO:MONDO:0010969,MedGen:C1832976,OMIM:600977, Orphanet:18721763549736354973TG17:g.6354973T>G-
NM_031220.4(PITPNM3):c.*3561G>A83394PITPNM3Benignrs57360986RCV000304660; NMONDO:MONDO:0010969,MedGen:C1832976,OMIM:600977, Orphanet:18721763550976355097CT17:g.6355097C>TClinGen:CA10649866CN239348 Cone-Rod Dystrophy, Dominant;
NM_031220.4(PITPNM3):c.*3541C>T83394PITPNM3Benignrs142047814RCV000397871; NMONDO:MONDO:0010969,MedGen:C1832976,OMIM:600977, Orphanet:18721763551176355117GANC_000017.10:g.6355117G>AClinGen:CA10649872CN239348 Cone-Rod Dystrophy, Dominant;
NM_031220.4(PITPNM3):c.*3509C>T83394PITPNM3Benignrs188088185RCV000310344; NMONDO:MONDO:0010969,MedGen:C1832976,OMIM:600977, Orphanet:18721763551496355149GANC_000017.10:g.6355149G>AClinGen:CA10649874CN239348 Cone-Rod Dystrophy, Dominant;
NM_031220.4(PITPNM3):c.*3462G>C83394PITPNM3Uncertain significancers773713375RCV000370981; NMONDO:MONDO:0010969,MedGen:C1832976,OMIM:600977, Orphanet:18721763551966355196CGNC_000017.10:g.6355196C>GClinGen:CA10640255CN239348 Cone-Rod Dystrophy, Dominant;
NM_031220.4(PITPNM3):c.*3458G>T83394PITPNM3Uncertain significancers906119341RCV001127957; NMONDO:MONDO:0010969,MedGen:C1832976,OMIM:600977, Orphanet:18721763552006355200CA17:g.6355200C>A-
NM_031220.4(PITPNM3):c.*3453G>T83394PITPNM3Uncertain significancers1372700734RCV001127958; NMONDO:MONDO:0010969,MedGen:C1832976,OMIM:600977, Orphanet:18721763552056355205CA17:g.6355205C>A-
NM_031220.4(PITPNM3):c.*3452C>G83394PITPNM3Uncertain significancers57115440RCV000284457; NMONDO:MONDO:0010969,MedGen:C1832976,OMIM:600977, Orphanet:18721763552066355206GCNC_000017.10:g.6355206G>CClinGen:CA10649881CN239348 Cone-Rod Dystrophy, Dominant;
NM_031220.4(PITPNM3):c.*3451G>A83394PITPNM3Uncertain significancers966895099RCV001127959; NMONDO:MONDO:0010969,MedGen:C1832976,OMIM:600977, Orphanet:18721763552076355207CT17:g.6355207C>T-
NM_031220.4(PITPNM3):c.*3449G>C83394PITPNM3Uncertain significancers57271171RCV001122198; NMONDO:MONDO:0010969,MedGen:C1832976,OMIM:600977, Orphanet:18721763552096355209CG17:g.6355209C>G-
NM_031220.4(PITPNM3):c.*3449G>A83394PITPNM3Uncertain significancers57271171RCV001122199; NMONDO:MONDO:0010969,MedGen:C1832976,OMIM:600977, Orphanet:18721763552096355209CT17:g.6355209C>T-
NM_031220.4(PITPNM3):c.*3448C>G83394PITPNM3Uncertain significancers377452533RCV001122200; NMONDO:MONDO:0010969,MedGen:C1832976,OMIM:600977, Orphanet:18721763552106355210GC17:g.6355210G>C-
NM_031220.4(PITPNM3):c.*3446G>T83394PITPNM3Uncertain significancers866089694RCV001122201; NMONDO:MONDO:0010969,MedGen:C1832976,OMIM:600977, Orphanet:18721763552126355212CA17:g.6355212C>A-
NM_031220.4(PITPNM3):c.*3390C>T83394PITPNM3Benignrs552116533RCV000363560; NMONDO:MONDO:0010969,MedGen:C1832976,OMIM:600977, Orphanet:18721763552686355268GANC_000017.10:g.6355268G>AClinGen:CA10640274CN239348 Cone-Rod Dystrophy, Dominant;
NM_031220.4(PITPNM3):c.*3371C>T83394PITPNM3Uncertain significancers779802158RCV000396468; NMONDO:MONDO:0010969,MedGen:C1832976,OMIM:600977, Orphanet:18721763552876355287GANC_000017.10:g.6355287G>AClinGen:CA10649882CN239348 Cone-Rod Dystrophy, Dominant;
NM_031220.4(PITPNM3):c.*3371C>G83394PITPNM3Uncertain significancers779802158RCV001122202; NMONDO:MONDO:0010969,MedGen:C1832976,OMIM:600977, Orphanet:18721763552876355287GC17:g.6355287G>C-
NM_031220.4(PITPNM3):c.*3342C>T83394PITPNM3Uncertain significancers746634506RCV000314827; NMONDO:MONDO:0010969,MedGen:C1832976,OMIM:600977, Orphanet:18721763553166355316GANC_000017.10:g.6355316G>AClinGen:CA10650694CN239348 Cone-Rod Dystrophy, Dominant;
NM_031220.4(PITPNM3):c.*3327G>C83394PITPNM3Uncertain significancers1913871593RCV001124978; NMONDO:MONDO:0010969,MedGen:C1832976,OMIM:600977, Orphanet:18721763553316355331CG17:g.6355331C>G-
NM_031220.4(PITPNM3):c.*3253G>C83394PITPNM3Benignrs563717612RCV000319719; NMONDO:MONDO:0010969,MedGen:C1832976,OMIM:600977, Orphanet:18721763554056355405CGNC_000017.10:g.6355405C>GClinGen:CA10640276CN239348 Cone-Rod Dystrophy, Dominant;
NM_031220.4(PITPNM3):c.*3239C>T83394PITPNM3Benignrs11078630RCV000380263; NMONDO:MONDO:0010969,MedGen:C1832976,OMIM:600977, Orphanet:18721763554196355419GANC_000017.10:g.6355419G>AClinGen:CA10646516CN239348 Cone-Rod Dystrophy, Dominant;
NM_031220.4(PITPNM3):c.*3162A>T83394PITPNM3Uncertain significancers1913878110RCV001128056; NMONDO:MONDO:0010969,MedGen:C1832976,OMIM:600977, Orphanet:18721763554966355496TA17:g.6355496T>A-
NM_031220.4(PITPNM3):c.*3132T>A83394PITPNM3Likely benignrs570730657RCV000287509; NMONDO:MONDO:0010969,MedGen:C1832976,OMIM:600977, Orphanet:18721763555266355526ATNC_000017.10:g.6355526A>TClinGen:CA10649884CN239348 Cone-Rod Dystrophy, Dominant;
NM_031220.4(PITPNM3):c.*3106T>C83394PITPNM3Uncertain significancers1913879958RCV001128057; NMONDO:MONDO:0010969,MedGen:C1832976,OMIM:600977, Orphanet:18721763555526355552AG17:g.6355552A>G-
NM_031220.4(PITPNM3):c.*2981G>A83394PITPNM3Benignrs3809839RCV000351796; NMONDO:MONDO:0010969,MedGen:C1832976,OMIM:600977, Orphanet:18721763556776355677CTNC_000017.10:g.6355677C>TClinGen:CA10646518CN239348 Cone-Rod Dystrophy, Dominant;
NM_031220.4(PITPNM3):c.*2971G>A83394PITPNM3Uncertain significancers752958452RCV001122294; NMONDO:MONDO:0010969,MedGen:C1832976,OMIM:600977, Orphanet:18721763556876355687CT17:g.6355687C>T-
NM_031220.4(PITPNM3):c.*2957G>A83394PITPNM3Uncertain significancers72830303RCV000404185; NMONDO:MONDO:0010969,MedGen:C1832976,OMIM:600977, Orphanet:18721763557016355701CT17:g.6355701C>TClinGen:CA10646520CN239348 Cone-Rod Dystrophy, Dominant;
NM_031220.4(PITPNM3):c.*2845A>G83394PITPNM3Uncertain significancers1006953333RCV001125085; NMONDO:MONDO:0010969,MedGen:C1832976,OMIM:600977, Orphanet:18721763558136355813TC17:g.6355813T>C-
NM_031220.4(PITPNM3):c.*2830G>C83394PITPNM3Benignrs192300339RCV001125086; NMONDO:MONDO:0010969,MedGen:C1832976,OMIM:600977, Orphanet:18721763558286355828CG17:g.6355828C>G-
NM_031220.4(PITPNM3):c.*2762G>C83394PITPNM3Uncertain significancers1221151054RCV001125087; NMONDO:MONDO:0010969,MedGen:C1832976,OMIM:600977, Orphanet:18721763558966355896CG17:g.6355896C>G-
NM_031220.4(PITPNM3):c.*2701C>T83394PITPNM3Uncertain significancers562895550RCV000360835; NMONDO:MONDO:0010969,MedGen:C1832976,OMIM:600977, Orphanet:18721763559576355957GANC_000017.10:g.6355957G>AClinGen:CA10640279CN239348 Cone-Rod Dystrophy, Dominant;
NM_031220.4(PITPNM3):c.*2482C>A83394PITPNM3Uncertain significancers1055891777RCV001126059; NMONDO:MONDO:0010969,MedGen:C1832976,OMIM:600977, Orphanet:18721763561766356176GT17:g.6356176G>T-
NM_031220.4(PITPNM3):c.*2390G>A83394PITPNM3Uncertain significancers1913908744RCV001126060; NMONDO:MONDO:0010969,MedGen:C1832976,OMIM:600977, Orphanet:18721763562686356268CT17:g.6356268C>T-
NM_031220.4(PITPNM3):c.*2336A>G83394PITPNM3Benignrs74390995RCV000326869; NMONDO:MONDO:0010969,MedGen:C1832976,OMIM:600977, Orphanet:18721763563226356322TC17:g.6356322T>CClinGen:CA10649892CN239348 Cone-Rod Dystrophy, Dominant;
NM_031220.4(PITPNM3):c.*2334G>A83394PITPNM3Uncertain significancers1597354935RCV001126061; NMONDO:MONDO:0010969,MedGen:C1832976,OMIM:600977, Orphanet:18721763563246356324CT17:g.6356324C>T-
NM_031220.4(PITPNM3):c.*2302A>C83394PITPNM3Uncertain significancers56400419RCV000336964; NMONDO:MONDO:0010969,MedGen:C1832976,OMIM:600977, Orphanet:18721763563566356356TGNC_000017.10:g.6356356T>GClinGen:CA10650702CN239348 Cone-Rod Dystrophy, Dominant;
NM_031220.4(PITPNM3):c.*2289A>G83394PITPNM3Uncertain significancers886053292RCV000406096; NMONDO:MONDO:0010969,MedGen:C1832976,OMIM:600977, Orphanet:18721763563696356369TCNC_000017.10:g.6356369T>CClinGen:CA10640286CN239348 Cone-Rod Dystrophy, Dominant;
NM_031220.4(PITPNM3):c.*2207G>A83394PITPNM3Uncertain significancers1008761194RCV001126062; NMONDO:MONDO:0010969,MedGen:C1832976,OMIM:600977, Orphanet:18721763564516356451CT17:g.6356451C>T-
NM_031220.4(PITPNM3):c.*2203G>A83394PITPNM3Benignrs28593105RCV000405770; NMONDO:MONDO:0010969,MedGen:C1832976,OMIM:600977, Orphanet:18721763564556356455CTNC_000017.10:g.6356455C>TClinGen:CA10650706CN239348 Cone-Rod Dystrophy, Dominant;
NM_031220.4(PITPNM3):c.*2199G>A83394PITPNM3Uncertain significancers548870374RCV000302775; NMONDO:MONDO:0010969,MedGen:C1832976,OMIM:600977, Orphanet:18721763564596356459CTNC_000017.10:g.6356459C>TClinGen:CA10640287CN239348 Cone-Rod Dystrophy, Dominant;
NM_031220.4(PITPNM3):c.*2160C>T83394PITPNM3Uncertain significancers778011901RCV001128149; NMONDO:MONDO:0010969,MedGen:C1832976,OMIM:600977, Orphanet:18721763564986356498GA17:g.6356498G>A-
NM_031220.4(PITPNM3):c.*2088A>G83394PITPNM3Benignrs4796329RCV000272630; NMONDO:MONDO:0010969,MedGen:C1832976,OMIM:600977, Orphanet:18721763565706356570TCNC_000017.10:g.6356570T>CClinGen:CA10640294CN239348 Cone-Rod Dystrophy, Dominant;
NM_031220.4(PITPNM3):c.*2061C>T83394PITPNM3Benignrs4796499RCV000309132; NMONDO:MONDO:0010969,MedGen:C1832976,OMIM:600977, Orphanet:18721763565976356597GANC_000017.10:g.6356597G>AClinGen:CA10649895CN239348 Cone-Rod Dystrophy, Dominant;
NM_031220.4(PITPNM3):c.*1909G>C83394PITPNM3Benignrs58508424RCV000333403; NMONDO:MONDO:0010969,MedGen:C1832976,OMIM:600977, Orphanet:18721763567496356749CGNC_000017.10:g.6356749C>GClinGen:CA10640300CN239348 Cone-Rod Dystrophy, Dominant;
NM_031220.4(PITPNM3):c.*1840C>T83394PITPNM3Benignrs4796330RCV000387994; NMONDO:MONDO:0010969,MedGen:C1832976,OMIM:600977, Orphanet:18721763568186356818GA17:g.6356818G>AClinGen:CA10650710CN239348 Cone-Rod Dystrophy, Dominant;
NM_031220.4(PITPNM3):c.*1733C>A83394PITPNM3Uncertain significancers562178969RCV000274946; NMONDO:MONDO:0010969,MedGen:C1832976,OMIM:600977, Orphanet:18721763569256356925GTNC_000017.10:g.6356925G>TClinGen:CA10650711CN239348 Cone-Rod Dystrophy, Dominant;
NM_031220.4(PITPNM3):c.*1673G>A83394PITPNM3Uncertain significancers753609983RCV000330277; NMONDO:MONDO:0010969,MedGen:C1832976,OMIM:600977, Orphanet:18721763569856356985CTNC_000017.10:g.6356985C>TClinGen:CA10650712CN239348 Cone-Rod Dystrophy, Dominant;
NM_031220.4(PITPNM3):c.*1656G>A83394PITPNM3Uncertain significancers547660659RCV000375528; NMONDO:MONDO:0010969,MedGen:C1832976,OMIM:600977, Orphanet:18721763570026357002CTNC_000017.10:g.6357002C>TClinGen:CA10646535CN239348 Cone-Rod Dystrophy, Dominant;
NM_031220.4(PITPNM3):c.*1646G>A83394PITPNM3Uncertain significancers761623031RCV001122414; NMONDO:MONDO:0010969,MedGen:C1832976,OMIM:600977, Orphanet:18721763570126357012CT17:g.6357012C>T-
NM_031220.4(PITPNM3):c.*1637G>A83394PITPNM3Uncertain significancers1913963952RCV001122415; NMONDO:MONDO:0010969,MedGen:C1832976,OMIM:600977, Orphanet:18721763570216357021CT17:g.6357021C>T-
NM_031220.4(PITPNM3):c.*1617A>G83394PITPNM3Benignrs191391858RCV000281007; NMONDO:MONDO:0010969,MedGen:C1832976,OMIM:600977, Orphanet:18721763570416357041TCNC_000017.10:g.6357041T>CClinGen:CA10650715CN239348 Cone-Rod Dystrophy, Dominant;
NM_031220.4(PITPNM3):c.*1571T>C83394PITPNM3Uncertain significancers1913966100RCV001122416; NMONDO:MONDO:0010969,MedGen:C1832976,OMIM:600977, Orphanet:18721763570876357087AG17:g.6357087A>G-
NM_031220.4(PITPNM3):c.*1545G>A83394PITPNM3Uncertain significancers565463582RCV001122417; NMONDO:MONDO:0010969,MedGen:C1832976,OMIM:600977, Orphanet:18721763571136357113CT17:g.6357113C>T-
NM_031220.4(PITPNM3):c.*1482C>A83394PITPNM3Uncertain significancers372757907RCV001122418; NMONDO:MONDO:0010969,MedGen:C1832976,OMIM:600977, Orphanet:18721763571766357176GT17:g.6357176G>T-
NM_031220.4(PITPNM3):c.*1461C>T83394PITPNM3Uncertain significancers1258478802RCV001125194; NMONDO:MONDO:0010969,MedGen:C1832976,OMIM:600977, Orphanet:18721763571976357197GA17:g.6357197G>A-
NM_031220.4(PITPNM3):c.*1386T>C83394PITPNM3Uncertain significancers1913973057RCV001125195; NMONDO:MONDO:0010969,MedGen:C1832976,OMIM:600977, Orphanet:18721763572726357272AG17:g.6357272A>G-
NM_031220.4(PITPNM3):c.*1313G>C83394PITPNM3Benignrs188929777RCV000317404; NMONDO:MONDO:0010969,MedGen:C1832976,OMIM:600977, Orphanet:18721763573456357345CGNC_000017.10:g.6357345C>GClinGen:CA10646536CN239348 Cone-Rod Dystrophy, Dominant;
NM_031220.4(PITPNM3):c.*1299C>T83394PITPNM3Benignrs7218551RCV000372221; NMONDO:MONDO:0010969,MedGen:C1832976,OMIM:600977, Orphanet:18721763573596357359GANC_000017.10:g.6357359G>AClinGen:CA10650718CN239348 Cone-Rod Dystrophy, Dominant;
NM_031220.4(PITPNM3):c.*1223C>T83394PITPNM3Benignrs141728004RCV001125196; NMONDO:MONDO:0010969,MedGen:C1832976,OMIM:600977, Orphanet:18721763574356357435GA17:g.6357435G>A-
NM_031220.4(PITPNM3):c.*1106A>G83394PITPNM3Uncertain significancers886053295RCV000286999; NMONDO:MONDO:0010969,MedGen:C1832976,OMIM:600977, Orphanet:18721763575526357552TCNC_000017.10:g.6357552T>CClinGen:CA10640304CN239348 Cone-Rod Dystrophy, Dominant;
NM_031220.4(PITPNM3):c.*1095G>A83394PITPNM3Uncertain significancers779765367RCV000342094; NMONDO:MONDO:0010969,MedGen:C1832976,OMIM:600977, Orphanet:18721763575636357563CTNC_000017.10:g.6357563C>TClinGen:CA10650721CN239348 Cone-Rod Dystrophy, Dominant;
NM_031220.4(PITPNM3):c.*924G>A83394PITPNM3Benignrs549677933RCV000283602; NMONDO:MONDO:0010969,MedGen:C1832976,OMIM:600977, Orphanet:18721763577346357734CTNC_000017.10:g.6357734C>TClinGen:CA10646542CN239348 Cone-Rod Dystrophy, Dominant;
NM_031220.4(PITPNM3):c.*840T>C83394PITPNM3Uncertain significancers961511171RCV001126174; NMONDO:MONDO:0010969,MedGen:C1832976,OMIM:600977, Orphanet:18721763578186357818AG17:g.6357818A>G-
NM_031220.4(PITPNM3):c.*824G>T83394PITPNM3Benignrs111943449RCV000347990; NMONDO:MONDO:0010969,MedGen:C1832976,OMIM:600977, Orphanet:18721763578346357834CANC_000017.10:g.6357834C>AClinGen:CA10646544CN239348 Cone-Rod Dystrophy, Dominant;
NM_031220.4(PITPNM3):c.*674G>A83394PITPNM3Uncertain significancers886053296RCV000403076; NMONDO:MONDO:0010969,MedGen:C1832976,OMIM:600977, Orphanet:18721763579846357984CTNC_000017.10:g.6357984C>TClinGen:CA10649899CN239348 Cone-Rod Dystrophy, Dominant;
NM_031220.4(PITPNM3):c.*641C>T83394PITPNM3Benignrs4796331RCV000306384; NMONDO:MONDO:0010969,MedGen:C1832976,OMIM:600977, Orphanet:18721763580176358017GANC_000017.10:g.6358017G>AClinGen:CA10646546CN239348 Cone-Rod Dystrophy, Dominant;
NM_031220.4(PITPNM3):c.*604T>C83394PITPNM3Uncertain significancers951966240RCV001126175; NMONDO:MONDO:0010969,MedGen:C1832976,OMIM:600977, Orphanet:18721763580546358054AG17:g.6358054A>G-
NM_031220.4(PITPNM3):c.*576T>C83394PITPNM3Benignrs570375031RCV000397060; NMONDO:MONDO:0010969,MedGen:C1832976,OMIM:600977, Orphanet:18721763580826358082AGNC_000017.10:g.6358082A>GClinGen:CA10640309CN239348 Cone-Rod Dystrophy, Dominant;
NM_031220.4(PITPNM3):c.*561C>G83394PITPNM3Benignrs186452214RCV000314445; NMONDO:MONDO:0010969,MedGen:C1832976,OMIM:600977, Orphanet:18721763580976358097GCNC_000017.10:g.6358097G>CClinGen:CA10640311CN239348 Cone-Rod Dystrophy, Dominant;
NM_031220.4(PITPNM3):c.*556G>C83394PITPNM3Benignrs4796500RCV000366804; NMONDO:MONDO:0010969,MedGen:C1832976,OMIM:600977, Orphanet:18721763581026358102CGNC_000017.10:g.6358102C>GClinGen:CA10646550CN239348 Cone-Rod Dystrophy, Dominant;
NM_031220.4(PITPNM3):c.*555C>T83394PITPNM3Benignrs147071422RCV000262665; NMONDO:MONDO:0010969,MedGen:C1832976,OMIM:600977, Orphanet:18721763581036358103GANC_000017.10:g.6358103G>AClinGen:CA10650722CN239348 Cone-Rod Dystrophy, Dominant;
NM_031220.4(PITPNM3):c.*484T>C83394PITPNM3Benignrs12449488RCV000320094; NMONDO:MONDO:0010969,MedGen:C1832976,OMIM:600977, Orphanet:18721763581746358174AGNC_000017.10:g.6358174A>GClinGen:CA10650723CN239348 Cone-Rod Dystrophy, Dominant;
NM_031220.4(PITPNM3):c.*299C>A83394PITPNM3Uncertain significancers886053297RCV000354021; NMONDO:MONDO:0010969,MedGen:C1832976,OMIM:600977, Orphanet:18721763583596358359GTNC_000017.10:g.6358359G>TClinGen:CA10640315CN239348 Cone-Rod Dystrophy, Dominant;
NM_031220.4(PITPNM3):c.*198G>A83394PITPNM3Benignrs542520491RCV000261536; NMONDO:MONDO:0010969,MedGen:C1832976,OMIM:600977, Orphanet:18721763584606358460CTNC_000017.10:g.6358460C>TClinGen:CA10650725CN239348 Cone-Rod Dystrophy, Dominant;
NM_031220.4(PITPNM3):c.*102T>A83394PITPNM3Uncertain significancers1214063181RCV001128248; NMONDO:MONDO:0010969,MedGen:C1832976,OMIM:600977, Orphanet:18721763585566358556AT17:g.6358556A>T-
NM_031220.4(PITPNM3):c.*54G>A83394PITPNM3Uncertain significancers766352141RCV001122516; NMONDO:MONDO:0010969,MedGen:C1832976,OMIM:600977, Orphanet:18721763586046358604CT17:g.6358604C>T-
NM_031220.4(PITPNM3):c.*34G>T83394PITPNM3Benignrs189434615RCV000380413; NMONDO:MONDO:0010969,MedGen:C1832976,OMIM:600977, Orphanet:18721763586246358624CANC_000017.10:g.6358624C>AClinGen:CA8328980CN239348 Cone-Rod Dystrophy, Dominant;
NM_031220.4(PITPNM3):c.2746T>G (p.Phe916Val)83394PITPNM3Uncertain significancers750289060RCV000283783; NMONDO:MONDO:0010969,MedGen:C1832976,OMIM:600977, Orphanet:18721763588376358837AC17:g.6358837A>CClinGen:CA8329026CN239348 Cone-Rod Dystrophy, Dominant;
NM_031220.4(PITPNM3):c.2595C>G (p.Thr865=)83394PITPNM3Uncertain significancers1376828420RCV001122517; NMONDO:MONDO:0010969,MedGen:C1832976,OMIM:600977, Orphanet:18721763609386360938GC17:g.6360938G>C-
NM_031220.4(PITPNM3):c.2510C>T (p.Ala837Val)83394PITPNM3Uncertain significancers756226356RCV001199221|RCV001863137; NMONDO:MONDO:0010969,MedGen:C1832976,OMIM:600977, Orphanet:1872|MedGen:CN5172021763610236361023GA17:g.6361023G>A-
NM_031220.4(PITPNM3):c.2506A>G (p.Ser836Gly)83394PITPNM3Uncertain significancers1383497573RCV001122518; NMONDO:MONDO:0010969,MedGen:C1832976,OMIM:600977, Orphanet:18721763610276361027TC17:g.6361027T>C-
NM_031220.4(PITPNM3):c.2472G>A (p.Leu824=)83394PITPNM3Benign/Likely benignrs144737056RCV000322443|RCV000953035; NMONDO:MONDO:0010969,MedGen:C1832976,OMIM:600977, Orphanet:1872|MedGen:CN5172021763647116364711CT17:g.6364711C>TClinGen:CA8329171CN239348 Cone-Rod Dystrophy, Dominant;
NM_031220.4(PITPNM3):c.2430T>C (p.Asp810=)83394PITPNM3Benignrs11654099RCV000243920|RCV000383674|RCV000836686; NMedGen:CN169374|MONDO:MONDO:0010969,MedGen:C1832976,OMIM:600977, Orphanet:1872|MedGen:CN5172021763647536364753AGNC_000017.10:g.6364753A>GClinGen:CA8329180CN239348 Cone-Rod Dystrophy, Dominant;
NM_031220.4(PITPNM3):c.2355G>A (p.Pro785=)83394PITPNM3Conflicting interpretations of pathogenicityrs146899730RCV000175369|RCV000291683; NMedGen:CN517202|MONDO:MONDO:0010969,MedGen:C1832976,OMIM:600977, Orphanet:18721763648286364828CT17:g.6364828C>TClinGen:CA241106CN239348 Cone-Rod Dystrophy, Dominant;
NM_031220.4(PITPNM3):c.2307-5A>G83394PITPNM3Benignrs73346359RCV000246957|RCV000344171|RCV001510772; NMedGen:CN169374|MONDO:MONDO:0010969,MedGen:C1832976,OMIM:600977, Orphanet:1872|MedGen:CN5172021763648816364881TC17:g.6364881T>CClinGen:CA8329198CN239348 Cone-Rod Dystrophy, Dominant;
NM_031220.4(PITPNM3):c.2307-12C>A83394PITPNM3Uncertain significancers375605801RCV000391440; NMONDO:MONDO:0010969,MedGen:C1832976,OMIM:600977, Orphanet:18721763648886364888GT17:g.6364888G>TClinGen:CA10650726CN239348 Cone-Rod Dystrophy, Dominant;
NM_031220.4(PITPNM3):c.2305C>T (p.Arg769Trp)83394PITPNM3Uncertain significancers750932326RCV001335165; NMONDO:MONDO:0010969,MedGen:C1832976,OMIM:600977, Orphanet:18721763670536367053GA6367053-
NM_031220.4(PITPNM3):c.2190G>A (p.Thr730=)83394PITPNM3Uncertain significancers781691392RCV001039481|RCV001125305; NMedGen:CN517202|MONDO:MONDO:0010969,MedGen:C1832976,OMIM:600977, Orphanet:18721763671686367168CT17:g.6367168C>T-
NM_031220.4(PITPNM3):c.2107C>T (p.Arg703Trp)83394PITPNM3Conflicting interpretations of pathogenicityrs149585484RCV001067540|RCV001125306; NMedGen:CN517202|MONDO:MONDO:0010969,MedGen:C1832976,OMIM:600977, Orphanet:18721763675396367539GA17:g.6367539G>A-
NM_031220.4(PITPNM3):c.1997C>T (p.Thr666Ile)83394PITPNM3Uncertain significancers886053298RCV000352464; NMONDO:MONDO:0010969,MedGen:C1832976,OMIM:600977, Orphanet:18721763679856367985GA17:g.6367985G>AClinGen:CA10646553CN239348 Cone-Rod Dystrophy, Dominant;
NM_031220.4(PITPNM3):c.1942C>T (p.Pro648Ser)83394PITPNM3Conflicting interpretations of pathogenicityrs141159316RCV001125307|RCV001856645; NMONDO:MONDO:0010969,MedGen:C1832976,OMIM:600977, Orphanet:1872|MedGen:CN5172021763680406368040GA17:g.6368040G>A-
NM_031220.4(PITPNM3):c.1899G>A (p.Thr633=)83394PITPNM3Uncertain significancers370756871RCV000403462; NMONDO:MONDO:0010969,MedGen:C1832976,OMIM:600977, Orphanet:18721763680836368083CT17:g.6368083C>TClinGen:CA8329330CN239348 Cone-Rod Dystrophy, Dominant;
NM_031220.4(PITPNM3):c.1878G>C (p.Gln626His)83394PITPNM3Conflicting interpretations of pathogenicityrs76024428RCV000002071|RCV000153697|RCV000512878|RCV000787861; NMONDO:MONDO:0010969,MedGen:C1832976,OMIM:600977, Orphanet:1872|MedGen:CN169374|MedGen:CN517202|Human Phenotype Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000, Orphanet:7911763715576371557CGNC_000017.10:g.6371557C>GClinGen:CA234554,UniProtKB:Q9BZ71#VAR_046787,OMIM:608921.0001C1832976 600977 Cone-rod dystrophy 5;
NM_031220.4(PITPNM3):c.1854G>A (p.Glu618=)83394PITPNM3Uncertain significancers886053299RCV000355498; NMONDO:MONDO:0010969,MedGen:C1832976,OMIM:600977, Orphanet:18721763715816371581CT17:g.6371581C>TClinGen:CA10646555CN239348 Cone-Rod Dystrophy, Dominant;
NM_031220.4(PITPNM3):c.1773+7C>T83394PITPNM3Uncertain significancers886053300RCV000393371; NMONDO:MONDO:0010969,MedGen:C1832976,OMIM:600977, Orphanet:18721763735736373573GA17:g.6373573G>AClinGen:CA10649907CN239348 Cone-Rod Dystrophy, Dominant;
NM_031220.4(PITPNM3):c.1688C>T (p.Thr563Met)83394PITPNM3Conflicting interpretations of pathogenicityrs139119218RCV000174604|RCV000297049|RCV000787862; NMedGen:CN517202|MONDO:MONDO:0010969,MedGen:C1832976,OMIM:600977, Orphanet:1872|Human Phenotype Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000, Orphanet:7911763736656373665GANC_000017.10:g.6373665G>AClinGen:CA240158CN239348 Cone-Rod Dystrophy, Dominant;
NM_031220.4(PITPNM3):c.1671C>T (p.Tyr557=)83394PITPNM3Benign/Likely benignrs74748737RCV000354224|RCV000592591|RCV000970726; NMONDO:MONDO:0010969,MedGen:C1832976,OMIM:600977, Orphanet:1872|MedGen:CN169374|MedGen:CN5172021763736826373682GANC_000017.10:g.6373682G>AClinGen:CA8329419CN239348 Cone-Rod Dystrophy, Dominant;
NM_031220.4(PITPNM3):c.1625-9G>A83394PITPNM3Benignrs11654175RCV000174605|RCV000266401|RCV000836734; NMedGen:CN169374|MONDO:MONDO:0010969,MedGen:C1832976,OMIM:600977, Orphanet:1872|MedGen:CN5172021763737376373737CTNC_000017.10:g.6373737C>TClinGen:CA201081CN239348 Cone-Rod Dystrophy, Dominant;
NM_031220.4(PITPNM3):c.1609G>A (p.Val537Met)83394PITPNM3Uncertain significancers754442529RCV001126279|RCV001873510; NMONDO:MONDO:0010969,MedGen:C1832976,OMIM:600977, Orphanet:1872|MedGen:CN5172021763744966374496CT17:g.6374496C>T-
NM_031220.4(PITPNM3):c.1608C>T (p.Pro536=)83394PITPNM3Conflicting interpretations of pathogenicityrs186009079RCV001126280|RCV001394514; NMONDO:MONDO:0010969,MedGen:C1832976,OMIM:600977, Orphanet:1872|MedGen:CN5172021763744976374497GA17:g.6374497G>A-
NM_031220.4(PITPNM3):c.1538G>A (p.Arg513His)83394PITPNM3Conflicting interpretations of pathogenicityrs548588951RCV000305194|RCV001859918; NMONDO:MONDO:0010969,MedGen:C1832976,OMIM:600977, Orphanet:1872|MedGen:CN5172021763745676374567CTNC_000017.10:g.6374567C>TClinGen:CA8329481CN239348 Cone-Rod Dystrophy, Dominant;
NM_031220.4(PITPNM3):c.1527G>A (p.Ser509=)83394PITPNM3Uncertain significancers758234075RCV001128326; NMONDO:MONDO:0010969,MedGen:C1832976,OMIM:600977, Orphanet:18721763745786374578CT17:g.6374578C>T-
NM_031220.4(PITPNM3):c.1524C>G (p.Ala508=)83394PITPNM3Uncertain significancers1905059038RCV001128327; NMONDO:MONDO:0010969,MedGen:C1832976,OMIM:600977, Orphanet:18721763745816374581GC17:g.6374581G>C-
NM_031220.4(PITPNM3):c.1477C>T (p.Arg493Trp)83394PITPNM3Benignrs147943969RCV000357545|RCV000905439; NMONDO:MONDO:0010969,MedGen:C1832976,OMIM:600977, Orphanet:1872|MedGen:CN5172021763746286374628GANC_000017.10:g.6374628G>AClinGen:CA8329489CN239348 Cone-Rod Dystrophy, Dominant;
NM_031220.4(PITPNM3):c.1377C>T (p.Ser459=)83394PITPNM3Conflicting interpretations of pathogenicityrs143785279RCV001128328|RCV001408840; NMONDO:MONDO:0010969,MedGen:C1832976,OMIM:600977, Orphanet:1872|MedGen:CN5172021763760296376029GA17:g.6376029G>A-
NM_031220.4(PITPNM3):c.1314C>T (p.Asp438=)83394PITPNM3Conflicting interpretations of pathogenicityrs371498505RCV001128329|RCV001464163; NMONDO:MONDO:0010969,MedGen:C1832976,OMIM:600977, Orphanet:1872|MedGen:CN5172021763760926376092GA17:g.6376092G>A-
NM_031220.4(PITPNM3):c.1206G>A (p.Ser402=)83394PITPNM3Benignrs7225547RCV000265204|RCV001512638; NMONDO:MONDO:0010969,MedGen:C1832976,OMIM:600977, Orphanet:1872|MedGen:CN5172021763778046377804CTNC_000017.10:g.6377804C>TClinGen:CA8329578CN239348 Cone-Rod Dystrophy, Dominant;
NM_031220.4(PITPNM3):c.1128G>A (p.Ala376=)83394PITPNM3Benign/Likely benignrs146033772RCV000327733|RCV000905868; NMONDO:MONDO:0010969,MedGen:C1832976,OMIM:600977, Orphanet:1872|MedGen:CN5172021763778826377882CTNC_000017.10:g.6377882C>TClinGen:CA8329601CN239348 Cone-Rod Dystrophy, Dominant;
NM_031220.4(PITPNM3):c.1124C>T (p.Pro375Leu)83394PITPNM3Conflicting interpretations of pathogenicityrs138671220RCV000153699|RCV001122614; NMedGen:CN517202|MONDO:MONDO:0010969,MedGen:C1832976,OMIM:600977, Orphanet:18721763778866377886GA17:g.6377886G>AClinGen:CA234557CN169374 not specified;
NM_031220.4(PITPNM3):c.1019G>A (p.Arg340Gln)83394PITPNM3Likely benignrs144563288RCV000384582; NMONDO:MONDO:0010969,MedGen:C1832976,OMIM:600977, Orphanet:18721763804156380415CTNC_000017.10:g.6380415C>TClinGen:CA8329645CN239348 Cone-Rod Dystrophy, Dominant;
NM_031220.4(PITPNM3):c.1018C>T (p.Arg340Trp)83394PITPNM3Conflicting interpretations of pathogenicityrs776506570RCV001122615|RCV001236602; NMONDO:MONDO:0010969,MedGen:C1832976,OMIM:600977, Orphanet:1872|MedGen:CN5172021763804166380416GA17:g.6380416G>A-
NM_031220.4(PITPNM3):c.987G>A (p.Leu329=)83394PITPNM3Conflicting interpretations of pathogenicityrs148451236RCV000180691|RCV000269181; NMedGen:CN517202|MONDO:MONDO:0010969,MedGen:C1832976,OMIM:600977, Orphanet:18721763804476380447CT17:g.6380447C>TClinGen:CA248236CN239348 Cone-Rod Dystrophy, Dominant;
NM_031220.4(PITPNM3):c.915G>A (p.Ala305=)83394PITPNM3Benign/Likely benignrs373564103RCV000326606|RCV001512579; NMONDO:MONDO:0010969,MedGen:C1832976,OMIM:600977, Orphanet:1872|MedGen:CN5172021763805196380519CTNC_000017.10:g.6380519C>TClinGen:CA8329667CN239348 Cone-Rod Dystrophy, Dominant;
NM_031220.4(PITPNM3):c.914C>T (p.Ala305Val)83394PITPNM3Conflicting interpretations of pathogenicityrs145148072RCV000387920|RCV001297380; NMONDO:MONDO:0010969,MedGen:C1832976,OMIM:600977, Orphanet:1872|MedGen:CN5172021763805206380520GANC_000017.10:g.6380520G>AClinGen:CA8329668CN239348 Cone-Rod Dystrophy, Dominant;
NM_031220.4(PITPNM3):c.913G>T (p.Ala305Ser)83394PITPNM3Uncertain significancers549384558RCV000296173; NMONDO:MONDO:0010969,MedGen:C1832976,OMIM:600977, Orphanet:18721763805216380521CANC_000017.10:g.6380521C>AClinGen:CA10650730CN239348 Cone-Rod Dystrophy, Dominant;
NM_031220.4(PITPNM3):c.901-10G>C83394PITPNM3Benignrs77580616RCV000082280|RCV000348714|RCV001523357; NMedGen:CN169374|MONDO:MONDO:0010969,MedGen:C1832976,OMIM:600977, Orphanet:1872|MedGen:CN5172021763805436380543CG17:g.6380543C>GClinGen:CA149355CN239348 Cone-Rod Dystrophy, Dominant;
NM_031220.4(PITPNM3):c.853G>A (p.Asp285Asn)83394PITPNM3Conflicting interpretations of pathogenicityrs751707041RCV001123700|RCV001208310; NMONDO:MONDO:0010969,MedGen:C1832976,OMIM:600977, Orphanet:1872|MedGen:CN5172021763813426381342CT17:g.6381342C>T-
NM_031220.4(PITPNM3):c.838G>A (p.Ala280Thr)83394PITPNM3Benignrs140298487RCV000386888|RCV001516179; NMONDO:MONDO:0010969,MedGen:C1832976,OMIM:600977, Orphanet:1872|MedGen:CN5172021763813576381357CTNC_000017.10:g.6381357C>TClinGen:CA8329721CN239348 Cone-Rod Dystrophy, Dominant;
NM_031220.4(PITPNM3):c.825C>T (p.Ala275=)83394PITPNM3Uncertain significancers1189044377RCV001123701; NMONDO:MONDO:0010969,MedGen:C1832976,OMIM:600977, Orphanet:18721763813706381370GA17:g.6381370G>A-
NM_031220.4(PITPNM3):c.747G>A (p.Lys249=)83394PITPNM3Conflicting interpretations of pathogenicityrs371282530RCV000282242|RCV000596627; NMONDO:MONDO:0010969,MedGen:C1832976,OMIM:600977, Orphanet:1872|MedGen:CN5172021763818976381897CTNC_000017.10:g.6381897C>TClinGen:CA8329756CN239348 Cone-Rod Dystrophy, Dominant;
NM_031220.4(PITPNM3):c.705C>T (p.Thr235=)83394PITPNM3Benignrs938288RCV000254192|RCV000334970|RCV000836732; NMedGen:CN169374|MONDO:MONDO:0010969,MedGen:C1832976,OMIM:600977, Orphanet:1872|MedGen:CN5172021763819396381939GANC_000017.10:g.6381939G>AClinGen:CA8329766CN239348 Cone-Rod Dystrophy, Dominant;
NM_031220.4(PITPNM3):c.699C>T (p.Val233=)83394PITPNM3Benignrs149964592RCV000249215|RCV000405056|RCV000964356; NMedGen:CN169374|MONDO:MONDO:0010969,MedGen:C1832976,OMIM:600977, Orphanet:1872|MedGen:CN5172021763819456381945GA17:g.6381945G>AClinGen:CA8329768CN239348 Cone-Rod Dystrophy, Dominant;
NM_031220.4(PITPNM3):c.651C>T (p.Ala217=)83394PITPNM3Conflicting interpretations of pathogenicityrs773305845RCV001123702|RCV002070019; NMONDO:MONDO:0010969,MedGen:C1832976,OMIM:600977, Orphanet:1872|MedGen:CN5172021763819936381993GA17:g.6381993G>A-
NM_031220.4(PITPNM3):c.576G>A (p.Ser192=)83394PITPNM3Benign/Likely benignrs145362623RCV001123703|RCV001523590; NMONDO:MONDO:0010969,MedGen:C1832976,OMIM:600977, Orphanet:1872|MedGen:CN5172021763868486386848CT17:g.6386848C>T-
NM_031220.4(PITPNM3):c.564T>C (p.Ser188=)83394PITPNM3Uncertain significancers1905873332RCV001126369; NMONDO:MONDO:0010969,MedGen:C1832976,OMIM:600977, Orphanet:18721763868606386860AG17:g.6386860A>G-
NM_031220.4(PITPNM3):c.541G>A (p.Val181Ile)83394PITPNM3Benign/Likely benignrs61755430RCV000304564|RCV000591350|RCV000967776|RCV000989687; NMONDO:MONDO:0010969,MedGen:C1832976,OMIM:600977, Orphanet:1872|MedGen:CN169374|MedGen:CN517202|Human Phenotype Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000, Orphanet:7911763868836386883CT17:g.6386883C>TClinGen:CA8329802CN239348 Cone-Rod Dystrophy, Dominant;
NM_031220.4(PITPNM3):c.507C>A (p.Phe169Leu)83394PITPNM3Conflicting interpretations of pathogenicityrs367702668RCV000179543|RCV000343196; NMedGen:CN517202|MONDO:MONDO:0010969,MedGen:C1832976,OMIM:600977, Orphanet:18721763869176386917GT17:g.6386917G>TClinGen:CA246825CN239348 Cone-Rod Dystrophy, Dominant;
NM_031220.4(PITPNM3):c.477C>T (p.Ser159=)83394PITPNM3Benignrs34897053RCV000252229|RCV000404139|RCV000827409; NMedGen:CN169374|MONDO:MONDO:0010969,MedGen:C1832976,OMIM:600977, Orphanet:1872|MedGen:CN5172021763869476386947GANC_000017.10:g.6386947G>AClinGen:CA8329816CN239348 Cone-Rod Dystrophy, Dominant;
NM_031220.4(PITPNM3):c.463C>T (p.His155Tyr)83394PITPNM3Uncertain significancers768310521RCV001126370; NMONDO:MONDO:0010969,MedGen:C1832976,OMIM:600977, Orphanet:18721763869616386961GA17:g.6386961G>A-
NM_031220.4(PITPNM3):c.456C>A (p.Ala152=)83394PITPNM3Conflicting interpretations of pathogenicityrs761342538RCV000303535|RCV001463303; NMONDO:MONDO:0010969,MedGen:C1832976,OMIM:600977, Orphanet:1872|MedGen:CN5172021763869686386968GTNC_000017.10:g.6386968G>TClinGen:CA8329820CN239348 Cone-Rod Dystrophy, Dominant;
NM_031220.4(PITPNM3):c.368G>A (p.Arg123His)83394PITPNM3Conflicting interpretations of pathogenicityrs762779113RCV000365269|RCV001850737; NMONDO:MONDO:0010969,MedGen:C1832976,OMIM:600977, Orphanet:1872|MedGen:CN5172021763870566387056CTNC_000017.10:g.6387056C>TClinGen:CA8329836CN239348 Cone-Rod Dystrophy, Dominant;
NM_031220.4(PITPNM3):c.351+15G>A83394PITPNM3Likely benignrs549825421RCV000272448|RCV002056622; NMONDO:MONDO:0010969,MedGen:C1832976,OMIM:600977, Orphanet:1872|MedGen:CN5172021763875216387521CTNC_000017.10:g.6387521C>TClinGen:CA8329861CN239348 Cone-Rod Dystrophy, Dominant;
NM_031220.4(PITPNM3):c.330C>T (p.Ile110=)83394PITPNM3Benignrs141380388RCV000306475|RCV001521726; NMONDO:MONDO:0010969,MedGen:C1832976,OMIM:600977, Orphanet:1872|MedGen:CN5172021763875576387557GANC_000017.10:g.6387557G>AClinGen:CA8329872CN239348 Cone-Rod Dystrophy, Dominant;
NM_031220.4(PITPNM3):c.287G>A (p.Arg96Gln)83394PITPNM3Conflicting interpretations of pathogenicityrs199749069RCV001041544|RCV001128419; NMedGen:CN517202|MONDO:MONDO:0010969,MedGen:C1832976,OMIM:600977, Orphanet:18721763876006387600CT17:g.6387600C>T-
NM_031220.4(PITPNM3):c.274+14G>T83394PITPNM3Uncertain significancers886053301RCV000363448; NMONDO:MONDO:0010969,MedGen:C1832976,OMIM:600977, Orphanet:18721764068336406833CANC_000017.10:g.6406833C>AClinGen:CA10646564CN239348 Cone-Rod Dystrophy, Dominant;
NM_031220.4(PITPNM3):c.243G>A (p.Pro81=)83394PITPNM3Likely benignrs773821376RCV000275881|RCV001403055; NMONDO:MONDO:0010969,MedGen:C1832976,OMIM:600977, Orphanet:1872|MedGen:CN5172021764068786406878CTNC_000017.10:g.6406878C>TClinGen:CA8329898CN239348 Cone-Rod Dystrophy, Dominant;
NM_031220.4(PITPNM3):c.238G>A (p.Ala80Thr)83394PITPNM3Benignrs3809835RCV000251915|RCV000333183|RCV000836731; NMedGen:CN169374|MONDO:MONDO:0010969,MedGen:C1832976,OMIM:600977, Orphanet:1872|MedGen:CN5172021764068836406883CTNC_000017.10:g.6406883C>TClinGen:CA8329903,UniProtKB:Q9BZ71#VAR_026014CN239348 Cone-Rod Dystrophy, Dominant;
NM_031220.4(PITPNM3):c.226+9C>G83394PITPNM3Benignrs145880642RCV000385407|RCV000731517|RCV000905441; NMONDO:MONDO:0010969,MedGen:C1832976,OMIM:600977, Orphanet:1872|MedGen:CN169374|MedGen:CN5172021764286676428667GCNC_000017.10:g.6428667G>CClinGen:CA8329925CN239348 Cone-Rod Dystrophy, Dominant;
NM_031220.4(PITPNM3):c.216C>T (p.Asp72=)83394PITPNM3Benign/Likely benignrs61755429RCV000177382|RCV001128420|RCV001513407; NMedGen:CN169374|MONDO:MONDO:0010969,MedGen:C1832976,OMIM:600977, Orphanet:1872|MedGen:CN5172021764286866428686GA17:g.6428686G>AClinGen:CA243554CN169374 not specified;
NM_031220.4(PITPNM3):c.195C>T (p.Ile65=)83394PITPNM3Conflicting interpretations of pathogenicityrs142749216RCV000274623|RCV001850738; NMONDO:MONDO:0010969,MedGen:C1832976,OMIM:600977, Orphanet:1872|MedGen:CN5172021764287076428707GANC_000017.10:g.6428707G>AClinGen:CA8329932CN239348 Cone-Rod Dystrophy, Dominant;
NM_031220.4(PITPNM3):c.49C>T (p.Pro17Ser)83394PITPNM3Benignrs28493751RCV000244243|RCV000375929|RCV000836831; NMedGen:CN169374|MONDO:MONDO:0010969,MedGen:C1832976,OMIM:600977, Orphanet:1872|MedGen:CN5172021764413766441376GANC_000017.10:g.6441376G>AClinGen:CA8329963,UniProtKB:Q9BZ71#VAR_062132CN239348 Cone-Rod Dystrophy, Dominant;
NM_031220.4(PITPNM3):c.36G>A (p.Pro12=)83394PITPNM3Benign/Likely benignrs369702538RCV000279103|RCV001503823; NMONDO:MONDO:0010969,MedGen:C1832976,OMIM:600977, Orphanet:1872|MedGen:CN5172021764413896441389CTNC_000017.10:g.6441389C>TClinGen:CA8329972CN239348 Cone-Rod Dystrophy, Dominant;
NM_031220.4(PITPNM3):c.22+15G>C83394PITPNM3Conflicting interpretations of pathogenicityrs777876563RCV000336552|RCV001512989; NMONDO:MONDO:0010969,MedGen:C1832976,OMIM:600977, Orphanet:1872|MedGen:CN5172021764596906459690CGNC_000017.10:g.6459690C>GClinGen:CA8329983CN239348 Cone-Rod Dystrophy, Dominant;
NM_031220.4(PITPNM3):c.16C>T (p.Arg6Cys)83394PITPNM3Uncertain significancers1471395517RCV001122714|RCV001856620; NMONDO:MONDO:0010969,MedGen:C1832976,OMIM:600977, Orphanet:1872|MedGen:CN5172021764597116459711GA17:g.6459711G>A-
NM_031220.4(PITPNM3):c.-24C>T83394PITPNM3Benignrs572344237RCV000379494; NMONDO:MONDO:0010969,MedGen:C1832976,OMIM:600977, Orphanet:18721764597506459750GANC_000017.10:g.6459750G>AClinGen:CA8329984CN239348 Cone-Rod Dystrophy, Dominant;
NM_031220.4(PITPNM3):c.-40A>C83394PITPNM3Uncertain significancers886053302RCV000287398; NMONDO:MONDO:0010969,MedGen:C1832976,OMIM:600977, Orphanet:18721764597666459766TGNC_000017.10:g.6459766T>GClinGen:CA10640355CN239348 Cone-Rod Dystrophy, Dominant;
NM_031220.4(PITPNM3):c.-92C>T83394PITPNM3Uncertain significancers961764718RCV001122715; NMONDO:MONDO:0010969,MedGen:C1832976,OMIM:600977, Orphanet:18721764598186459818GA17:g.6459818G>A-
NM_031220.4(PITPNM3):c.-129C>T83394PITPNM3Uncertain significancers886053303RCV000340023; NMONDO:MONDO:0010969,MedGen:C1832976,OMIM:600977, Orphanet:18721764598556459855GANC_000017.10:g.6459855G>AClinGen:CA10650749CN239348 Cone-Rod Dystrophy, Dominant;
MSeqDR Portal