MSeqDR Mitochondrial Disease Portal


 
*:HP: HPO terms, UMDF: 1= Disease, ND: NAMDC terms.
  Most Studied  CPEO, Complex I Deficiency, COXPD1, Leigh, LHON, MELAS, MERRF, Myopathy, SANDO
Disease Browser
Parent Node:
expand
Retinitis Pigmentosa (D012174)
..Starting node
..expand
Retinal cone dystrophy 2 (C538363)

       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:10664
Name:Retinal cone dystrophy 2
Definition:
Alternative IDs:OMIM:601777
ParentIDs:MESH:D012174
TreeNumbers:C11.270.684/C538363 |C11.768.585.658.500/C538363 |C16.320.290.684/C538363
Synonyms:Cone degeneration, autosomal dominant progressive |Cone-Rod Dystrophy 6 |CORD6 |RCD2 |RETINAL CONE DYSTROPHY 2
Slim Mappings:Eye disease|Genetic disease (inborn)
Reference: MedGen: C538363
MeSH: C538363
OMIM: 601777;
MSeqDR LSDB:  
Genes: GUCY2D;
Phenotypes
1 HP:0000006Autosomal dominant inheritance
2 HP:0011463Childhood onset
3 HP:0000548Cone/cone-rod dystrophy
4 HP:0007994Peripheral visual field loss
5 HP:0007663Reduced visual acuity
Disease Causing ClinVar Variants
Variation_NameGeneIDGeneSymbolClinicalSignificancedbSNPRCVaccessionTestedInGTRPhenotypeIDsChromosomeStartStopHGVS_cHGVS_pHGVS_gOtherIDsDisease_ClinVar
NM_004183.4(BEST1):c.1067G>A (p.Arg356Gln)7439BEST1Uncertain significancers751707411RCV000425735|RCV000850038; NMedGen:CN517202|MONDO:MONDO:0011143,MedGen:C1866293,OMIM:601777, Orphanet:1872116172748261727482GANC_000011.9:g.61727482G>AClinGen:CA6040977CN169374 not specified;
NC_000017.10:g.(?_7846709)_(8000124_?)dup3000GUCY2DUncertain significance-1RCV001338055; NMONDO:MONDO:0011143,MedGen:C1866293,OMIM:601777, Orphanet:1872; MONDO:MONDO:0008764,MedGen:C2931258,OMIM:204000, Orphanet:651778467098000124nana-1-
NC_000017.11:g.(?_8002902)_(8016550_?)del3000GUCY2DPathogenic-1RCV000708410; NMONDO:MONDO:0011143,MedGen:C1866293,OMIM:601777, Orphanet:1872; MONDO:MONDO:0008764,MedGen:C2931258,OMIM:204000, Orphanet:651779062207919868nana-C1866293 601777 Cone-rod dystrophy 6;
NM_000180.4(GUCY2D):c.-2_3del (p.Met1fs)3000GUCY2DLikely pathogenic-1RCV001377062; NMONDO:MONDO:0011143,MedGen:C1866293,OMIM:601777, Orphanet:1872; MONDO:MONDO:0008764,MedGen:C2931258,OMIM:204000, Orphanet:651779063637906367GGCAATG7906362-
NM_000180.4(GUCY2D):c.3G>C (p.Met1Ile)3000GUCY2DPathogenicrs281865409RCV000084899|RCV001388964|RCV001250812; NMedGen:CN517202|MONDO:MONDO:0011143,MedGen:C1866293,OMIM:601777, Orphanet:1872; MONDO:MONDO:0008764,MedGen:C2931258,OMIM:204000, Orphanet:65|MONDO:MONDO:0008764,MedGen:C2931258,OMIM:204000, Orphanet:651779063687906368GC17:g.7906368G>CClinGen:CA226146CN517202 not provided;
NM_000180.4(GUCY2D):c.13G>A (p.Ala5Thr)3000GUCY2DUncertain significancers1975657312RCV001205998; NMONDO:MONDO:0011143,MedGen:C1866293,OMIM:601777, Orphanet:1872; MONDO:MONDO:0008764,MedGen:C2931258,OMIM:204000, Orphanet:651779063787906378GA17:g.7906378G>A-
NM_000180.4(GUCY2D):c.16C>T (p.Arg6Cys)3000GUCY2DUncertain significance-1RCV001889960; NMONDO:MONDO:0008764,MedGen:C2931258,OMIM:204000, Orphanet:65; MONDO:MONDO:0011143,MedGen:C1866293,OMIM:601777, Orphanet:18721779063817906381CT7906381-
NM_000180.4(GUCY2D):c.49T>C (p.Cys17Arg)3000GUCY2DUncertain significancers1008930073RCV001201774; NMONDO:MONDO:0011143,MedGen:C1866293,OMIM:601777, Orphanet:1872; MONDO:MONDO:0008764,MedGen:C2931258,OMIM:204000, Orphanet:651779064147906414TC17:g.7906414T>C-
NM_000180.4(GUCY2D):c.54T>G (p.Gly18=)3000GUCY2DLikely benign-1RCV001407765; NMONDO:MONDO:0011143,MedGen:C1866293,OMIM:601777, Orphanet:1872; MONDO:MONDO:0008764,MedGen:C2931258,OMIM:204000, Orphanet:651779064197906419TG7906419-
NM_000180.4(GUCY2D):c.57C>G (p.Pro19=)3000GUCY2DLikely benign-1RCV002169502; NMONDO:MONDO:0011143,MedGen:C1866293,OMIM:601777, Orphanet:1872; MONDO:MONDO:0008764,MedGen:C2931258,OMIM:204000, Orphanet:651779064227906422CG7906422-
NM_000180.4(GUCY2D):c.61T>C (p.Trp21Arg)3000GUCY2DBenignrs9905402RCV000078320|RCV000084902|RCV001518411; NMedGen:CN169374|MedGen:CN517202|MONDO:MONDO:0011143,MedGen:C1866293,OMIM:601777, Orphanet:1872; MONDO:MONDO:0008764,MedGen:C2931258,OMIM:204000, Orphanet:651779064267906426TC17:g.7906426T>CClinGen:CA145844,UniProtKB:Q02846#VAR_067168CN517202 not provided;
NM_000180.4(GUCY2D):c.65G>A (p.Trp22Ter)3000GUCY2DPathogenicrs1308509257RCV001234701; NMONDO:MONDO:0011143,MedGen:C1866293,OMIM:601777, Orphanet:1872; MONDO:MONDO:0008764,MedGen:C2931258,OMIM:204000, Orphanet:651779064307906430GA17:g.7906430G>A-
NM_000180.4(GUCY2D):c.74C>T (p.Ser25Phe)3000GUCY2DConflicting interpretations of pathogenicityrs557108466RCV000512972|RCV001082983|RCV000787615; NMedGen:CN517202|MONDO:MONDO:0008764,MedGen:C2931258,OMIM:204000, Orphanet:65; MONDO:MONDO:0011143,MedGen:C1866293,OMIM:601777, Orphanet:1872|MedGen:C02710921779064397906439CT17:g.7906439C>TClinGen:CA8365468CN517202 not provided;
NM_000180.4(GUCY2D):c.78G>T (p.Leu26=)3000GUCY2DLikely benign-1RCV001408862; NMONDO:MONDO:0011143,MedGen:C1866293,OMIM:601777, Orphanet:1872; MONDO:MONDO:0008764,MedGen:C2931258,OMIM:204000, Orphanet:651779064437906443GT7906443-
NM_000180.4(GUCY2D):c.81C>T (p.Pro27=)3000GUCY2DLikely benignrs1361790718RCV000939873; NMONDO:MONDO:0011143,MedGen:C1866293,OMIM:601777, Orphanet:1872; MONDO:MONDO:0008764,MedGen:C2931258,OMIM:204000, Orphanet:651779064467906446CT17:g.7906446C>T-
NM_000180.4(GUCY2D):c.98T>A (p.Leu33Gln)3000GUCY2DUncertain significancers755150485RCV001327133; NMONDO:MONDO:0011143,MedGen:C1866293,OMIM:601777, Orphanet:1872; MONDO:MONDO:0008764,MedGen:C2931258,OMIM:204000, Orphanet:651779064637906463TA7906463-
NM_000180.4(GUCY2D):c.102C>T (p.Pro34=)3000GUCY2DLikely benign-1RCV001408534; NMONDO:MONDO:0011143,MedGen:C1866293,OMIM:601777, Orphanet:1872; MONDO:MONDO:0008764,MedGen:C2931258,OMIM:204000, Orphanet:651779064677906467CT7906467-
NM_000180.4(GUCY2D):c.103C>G (p.Arg35Gly)3000GUCY2DUncertain significance-1RCV002029335; NMONDO:MONDO:0011143,MedGen:C1866293,OMIM:601777, Orphanet:1872; MONDO:MONDO:0008764,MedGen:C2931258,OMIM:204000, Orphanet:651779064687906468CG7906468-
NM_000180.4(GUCY2D):c.104G>T (p.Arg35Leu)3000GUCY2DUncertain significancers748156659RCV001209241; NMONDO:MONDO:0011143,MedGen:C1866293,OMIM:601777, Orphanet:1872; MONDO:MONDO:0008764,MedGen:C2931258,OMIM:204000, Orphanet:651779064697906469GT17:g.7906469G>T-
NM_000180.4(GUCY2D):c.121C>T (p.Leu41Phe)3000GUCY2DUncertain significancers61749664RCV000084829|RCV001227542; NMedGen:CN517202|MONDO:MONDO:0011143,MedGen:C1866293,OMIM:601777, Orphanet:1872; MONDO:MONDO:0008764,MedGen:C2931258,OMIM:204000, Orphanet:651779064867906486CT17:g.7906486C>TClinGen:CA226039CN517202 not provided;
NM_000180.4(GUCY2D):c.131TGC[1] (p.Leu45del)3000GUCY2DUncertain significance-1RCV001362204|RCV001810037; NMONDO:MONDO:0011143,MedGen:C1866293,OMIM:601777, Orphanet:1872; MONDO:MONDO:0008764,MedGen:C2931258,OMIM:204000, Orphanet:65|MONDO:MONDO:0024539,MedGen:C4551884,OMIM:215500, Orphanet:753771779064957906497TCTGT7906494-
NM_000180.4(GUCY2D):c.132G>A (p.Leu44=)3000GUCY2DLikely benign-1RCV001402924; NMONDO:MONDO:0011143,MedGen:C1866293,OMIM:601777, Orphanet:1872; MONDO:MONDO:0008764,MedGen:C2931258,OMIM:204000, Orphanet:651779064977906497GA7906497-
NM_000180.4(GUCY2D):c.140C>T (p.Pro47Leu)3000GUCY2DUncertain significance-1RCV001950115; NMONDO:MONDO:0011143,MedGen:C1866293,OMIM:601777, Orphanet:1872; MONDO:MONDO:0008764,MedGen:C2931258,OMIM:204000, Orphanet:651779065057906505CT7906505-
NM_000180.4(GUCY2D):c.141C>G (p.Pro47=)3000GUCY2DLikely benign-1RCV002091933; NMONDO:MONDO:0011143,MedGen:C1866293,OMIM:601777, Orphanet:1872; MONDO:MONDO:0008764,MedGen:C2931258,OMIM:204000, Orphanet:651779065067906506CG7906506-
NM_000180.4(GUCY2D):c.145G>T (p.Ala49Ser)3000GUCY2DUncertain significancers771232307RCV001041694; NMONDO:MONDO:0011143,MedGen:C1866293,OMIM:601777, Orphanet:1872; MONDO:MONDO:0008764,MedGen:C2931258,OMIM:204000, Orphanet:651779065107906510GT17:g.7906510G>T-
NM_000180.4(GUCY2D):c.154G>T (p.Ala52Ser)3000GUCY2DBenignrs61749665RCV000009947|RCV000084835|RCV000078318|RCV001518075; NMONDO:MONDO:0008764,MedGen:C2931258,OMIM:204000, Orphanet:65|MedGen:CN517202|MedGen:CN169374|MONDO:MONDO:0008764,MedGen:C2931258,OMIM:204000, Orphanet:65; MONDO:MONDO:0011143,MedGen:C1866293,OMIM:601777, Orphanet:18721779065197906519GT17:g.7906519G>TClinGen:CA145842,UniProtKB:Q02846#VAR_003435,OMIM:600179.0004C2931258 204000 Leber congenital amaurosis 1;
NM_000180.4(GUCY2D):c.164C>T (p.Thr55Met)3000GUCY2DConflicting interpretations of pathogenicityrs201414567RCV000132567|RCV001079675|RCV000989734|RCV001725998; NMedGen:CN517202|MONDO:MONDO:0011143,MedGen:C1866293,OMIM:601777, Orphanet:1872; MONDO:MONDO:0008764,MedGen:C2931258,OMIM:204000, Orphanet:65|MONDO:MONDO:0011143,MedGen:C1866293,OMIM:601777, Orphanet:1872|MedGen:CN1693741779065297906529CT17:g.7906529C>TClinGen:CA232809,UniProtKB:Q02846#VAR_067169CN517202 not provided;
NM_000180.4(GUCY2D):c.165G>T (p.Thr55=)3000GUCY2DLikely benign-1RCV002131361; NMONDO:MONDO:0008764,MedGen:C2931258,OMIM:204000, Orphanet:65; MONDO:MONDO:0011143,MedGen:C1866293,OMIM:601777, Orphanet:18721779065307906530GT7906530-
NM_000180.4(GUCY2D):c.175del (p.Leu59fs)3000GUCY2DPathogenic-1RCV001960709; NMONDO:MONDO:0011143,MedGen:C1866293,OMIM:601777, Orphanet:1872; MONDO:MONDO:0008764,MedGen:C2931258,OMIM:204000, Orphanet:651779065397906539TCT7906538-
NM_000180.4(GUCY2D):c.180C>T (p.Gly60=)3000GUCY2DLikely benign-1RCV001462188; NMONDO:MONDO:0008764,MedGen:C2931258,OMIM:204000, Orphanet:65; MONDO:MONDO:0011143,MedGen:C1866293,OMIM:601777, Orphanet:18721779065457906545CT7906545-
NM_000180.4(GUCY2D):c.187G>A (p.Ala63Thr)3000GUCY2DUncertain significancers761828482RCV001295859; NMONDO:MONDO:0011143,MedGen:C1866293,OMIM:601777, Orphanet:1872; MONDO:MONDO:0008764,MedGen:C2931258,OMIM:204000, Orphanet:651779065527906552GA7906552-
NM_000180.4(GUCY2D):c.206C>G (p.Ser69Cys)3000GUCY2DUncertain significancers1328542671RCV001211560; NMONDO:MONDO:0011143,MedGen:C1866293,OMIM:601777, Orphanet:1872; MONDO:MONDO:0008764,MedGen:C2931258,OMIM:204000, Orphanet:651779065717906571CG17:g.7906571C>G-
NM_000180.4(GUCY2D):c.218C>A (p.Pro73Gln)3000GUCY2DUncertain significance-1RCV001928715; NMONDO:MONDO:0011143,MedGen:C1866293,OMIM:601777, Orphanet:1872; MONDO:MONDO:0008764,MedGen:C2931258,OMIM:204000, Orphanet:651779065837906583CA7906583-
NM_000180.4(GUCY2D):c.219G>A (p.Pro73=)3000GUCY2DUncertain significance-1RCV002039299; NMONDO:MONDO:0008764,MedGen:C2931258,OMIM:204000, Orphanet:65; MONDO:MONDO:0011143,MedGen:C1866293,OMIM:601777, Orphanet:18721779065847906584GA7906584-
NM_000180.4(GUCY2D):c.232_243dup (p.Arg78_Ala81dup)3000GUCY2DUncertain significancers1975666989RCV001325354; NMONDO:MONDO:0011143,MedGen:C1866293,OMIM:601777, Orphanet:1872; MONDO:MONDO:0008764,MedGen:C2931258,OMIM:204000, Orphanet:651779065867906587AACCTGGCCGCCCG7906586-
NM_000180.4(GUCY2D):c.238_252dup (p.Ala80_Leu84dup)3000GUCY2DUncertain significancers952193754RCV001347373; NMONDO:MONDO:0011143,MedGen:C1866293,OMIM:601777, Orphanet:1872; MONDO:MONDO:0008764,MedGen:C2931258,OMIM:204000, Orphanet:651779065907906591GGGCCGCCCGCCTGGCC7906590-
NM_000180.4(GUCY2D):c.228C>T (p.Ala76=)3000GUCY2DLikely benign-1RCV002095133; NMONDO:MONDO:0008764,MedGen:C2931258,OMIM:204000, Orphanet:65; MONDO:MONDO:0011143,MedGen:C1866293,OMIM:601777, Orphanet:18721779065937906593CT7906593-
NM_000180.4(GUCY2D):c.232C>T (p.Arg78Cys)3000GUCY2DUncertain significancers558294899RCV001294695; NMONDO:MONDO:0011143,MedGen:C1866293,OMIM:601777, Orphanet:1872; MONDO:MONDO:0008764,MedGen:C2931258,OMIM:204000, Orphanet:651779065977906597CT7906597-
NM_000180.4(GUCY2D):c.240C>A (p.Ala80=)3000GUCY2DUncertain significance-1RCV001908820; NMONDO:MONDO:0011143,MedGen:C1866293,OMIM:601777, Orphanet:1872; MONDO:MONDO:0008764,MedGen:C2931258,OMIM:204000, Orphanet:651779066057906605CA7906605-
NM_000180.4(GUCY2D):c.255C>T (p.Asn85=)3000GUCY2DLikely benign-1RCV001446898; NMONDO:MONDO:0008764,MedGen:C2931258,OMIM:204000, Orphanet:65; MONDO:MONDO:0011143,MedGen:C1866293,OMIM:601777, Orphanet:18721779066207906620CT7906620-
NM_000180.4(GUCY2D):c.261C>T (p.Asp87=)3000GUCY2DLikely benignrs1392838271RCV000982189|RCV001463623; NMedGen:CN517202|MONDO:MONDO:0011143,MedGen:C1866293,OMIM:601777, Orphanet:1872; MONDO:MONDO:0008764,MedGen:C2931258,OMIM:204000, Orphanet:651779066267906626CT17:g.7906626C>T-
NM_000180.4(GUCY2D):c.262C>A (p.Pro88Thr)3000GUCY2DUncertain significancers1300514080RCV001313247; NMONDO:MONDO:0011143,MedGen:C1866293,OMIM:601777, Orphanet:1872; MONDO:MONDO:0008764,MedGen:C2931258,OMIM:204000, Orphanet:651779066277906627CA7906627-
NM_000180.4(GUCY2D):c.264C>T (p.Pro88=)3000GUCY2DLikely benign-1RCV002099119; NMONDO:MONDO:0011143,MedGen:C1866293,OMIM:601777, Orphanet:1872; MONDO:MONDO:0008764,MedGen:C2931258,OMIM:204000, Orphanet:651779066297906629CT7906629-
NM_000180.4(GUCY2D):c.270G>A (p.Leu90=)3000GUCY2DLikely benign-1RCV002183107; NMONDO:MONDO:0011143,MedGen:C1866293,OMIM:601777, Orphanet:1872; MONDO:MONDO:0008764,MedGen:C2931258,OMIM:204000, Orphanet:651779066357906635GA7906635-
NM_000180.4(GUCY2D):c.271G>C (p.Ala91Pro)3000GUCY2DConflicting interpretations of pathogenicityrs573367793RCV000175541|RCV002056936; NMedGen:CN517202|MONDO:MONDO:0008764,MedGen:C2931258,OMIM:204000, Orphanet:65; MONDO:MONDO:0011143,MedGen:C1866293,OMIM:601777, Orphanet:18721779066367906636GC17:g.7906636G>CClinGen:CA241298CN169374 not specified;
NM_000180.4(GUCY2D):c.276C>T (p.Gly92=)3000GUCY2DUncertain significancers1180162649RCV001205015; NMONDO:MONDO:0011143,MedGen:C1866293,OMIM:601777, Orphanet:1872; MONDO:MONDO:0008764,MedGen:C2931258,OMIM:204000, Orphanet:651779066417906641CT17:g.7906641C>T-
NM_000180.4(GUCY2D):c.277G>A (p.Gly93Ser)3000GUCY2DUncertain significance-1RCV001976508; NMONDO:MONDO:0011143,MedGen:C1866293,OMIM:601777, Orphanet:1872; MONDO:MONDO:0008764,MedGen:C2931258,OMIM:204000, Orphanet:651779066427906642GA7906642-
NM_000180.4(GUCY2D):c.277G>C (p.Gly93Arg)3000GUCY2DUncertain significance-1RCV002037328; NMONDO:MONDO:0011143,MedGen:C1866293,OMIM:601777, Orphanet:1872; MONDO:MONDO:0008764,MedGen:C2931258,OMIM:204000, Orphanet:651779066427906642GC7906642-
NM_000180.4(GUCY2D):c.284G>C (p.Arg95Pro)3000GUCY2DUncertain significance-1RCV002033221; NMONDO:MONDO:0011143,MedGen:C1866293,OMIM:601777, Orphanet:1872; MONDO:MONDO:0008764,MedGen:C2931258,OMIM:204000, Orphanet:651779066497906649GC7906649-
NM_000180.4(GUCY2D):c.295G>T (p.Ala99Ser)3000GUCY2DUncertain significancers1304984076RCV001201484; NMONDO:MONDO:0011143,MedGen:C1866293,OMIM:601777, Orphanet:1872; MONDO:MONDO:0008764,MedGen:C2931258,OMIM:204000, Orphanet:651779066607906660GT17:g.7906660G>T-
NM_000180.4(GUCY2D):c.295G>A (p.Ala99Thr)3000GUCY2DUncertain significancers1304984076RCV001297954; NMONDO:MONDO:0011143,MedGen:C1866293,OMIM:601777, Orphanet:1872; MONDO:MONDO:0008764,MedGen:C2931258,OMIM:204000, Orphanet:651779066607906660GA7906660-
NM_000180.4(GUCY2D):c.296C>T (p.Ala99Val)3000GUCY2DUncertain significance-1RCV001958259; NMONDO:MONDO:0008764,MedGen:C2931258,OMIM:204000, Orphanet:65; MONDO:MONDO:0011143,MedGen:C1866293,OMIM:601777, Orphanet:18721779066617906661CT7906661-
NM_000180.4(GUCY2D):c.306C>G (p.Pro102=)3000GUCY2DLikely benignrs540877830RCV000878002; NMONDO:MONDO:0008764,MedGen:C2931258,OMIM:204000, Orphanet:65; MONDO:MONDO:0011143,MedGen:C1866293,OMIM:601777, Orphanet:18721779066717906671CG17:g.7906671C>G-
NM_000180.4(GUCY2D):c.307G>A (p.Glu103Lys)3000GUCY2DLikely pathogenicrs61749668RCV000084885|RCV000505073|RCV001053255|RCV001250822; NMedGen:CN517202|MONDO:MONDO:0000455,MedGen:C0730290, Orphanet:1871|MONDO:MONDO:0011143,MedGen:C1866293,OMIM:601777, Orphanet:1872; MONDO:MONDO:0008764,MedGen:C2931258,OMIM:204000, Orphanet:65|MONDO:MONDO:0008764,MedGen:C2931258,OMIM:204000, Orphanet:651779066727906672GA17:g.7906672G>AClinGen:CA226122C0730290 Cone/cone-rod dystrophy;
NM_000180.4(GUCY2D):c.319A>G (p.Thr107Ala)3000GUCY2DUncertain significance-1RCV001867157; NMONDO:MONDO:0008764,MedGen:C2931258,OMIM:204000, Orphanet:65; MONDO:MONDO:0011143,MedGen:C1866293,OMIM:601777, Orphanet:18721779066847906684AG7906684-
NM_000180.4(GUCY2D):c.321G>T (p.Thr107=)3000GUCY2DLikely benign-1RCV001403572; NMONDO:MONDO:0011143,MedGen:C1866293,OMIM:601777, Orphanet:1872; MONDO:MONDO:0008764,MedGen:C2931258,OMIM:204000, Orphanet:651779066867906686GT7906686-
NM_000180.4(GUCY2D):c.323C>T (p.Pro108Leu)3000GUCY2DUncertain significance-1RCV002028517; NMONDO:MONDO:0011143,MedGen:C1866293,OMIM:601777, Orphanet:1872; MONDO:MONDO:0008764,MedGen:C2931258,OMIM:204000, Orphanet:651779066887906688CT7906688-
NM_000180.4(GUCY2D):c.327C>G (p.Gly109=)3000GUCY2DLikely benign-1RCV002144666; NMONDO:MONDO:0011143,MedGen:C1866293,OMIM:601777, Orphanet:1872; MONDO:MONDO:0008764,MedGen:C2931258,OMIM:204000, Orphanet:651779066927906692CG7906692-
NM_000180.4(GUCY2D):c.337G>A (p.Ala113Thr)3000GUCY2DConflicting interpretations of pathogenicityrs1445892049RCV000762200|RCV002061033; NMedGen:CN517202|MONDO:MONDO:0011143,MedGen:C1866293,OMIM:601777, Orphanet:1872; MONDO:MONDO:0008764,MedGen:C2931258,OMIM:204000, Orphanet:651779067027906702GANC_000017.10:g.7906702G>A-
NM_000180.4(GUCY2D):c.340G>T (p.Val114Leu)3000GUCY2DUncertain significance-1RCV002021905; NMONDO:MONDO:0011143,MedGen:C1866293,OMIM:601777, Orphanet:1872; MONDO:MONDO:0008764,MedGen:C2931258,OMIM:204000, Orphanet:651779067057906705GT7906705-
NM_000180.4(GUCY2D):c.346T>C (p.Ser116Pro)3000GUCY2DUncertain significance-1RCV002032222; NMONDO:MONDO:0011143,MedGen:C1866293,OMIM:601777, Orphanet:1872; MONDO:MONDO:0008764,MedGen:C2931258,OMIM:204000, Orphanet:651779067117906711TC7906711-
NM_000180.4(GUCY2D):c.348C>T (p.Ser116=)3000GUCY2DLikely benign-1RCV001398260; NMONDO:MONDO:0011143,MedGen:C1866293,OMIM:601777, Orphanet:1872; MONDO:MONDO:0008764,MedGen:C2931258,OMIM:204000, Orphanet:651779067137906713CT7906713-
NM_000180.4(GUCY2D):c.358C>T (p.Arg120Cys)3000GUCY2DUncertain significancers1975671628RCV001071365; NMONDO:MONDO:0011143,MedGen:C1866293,OMIM:601777, Orphanet:1872; MONDO:MONDO:0008764,MedGen:C2931258,OMIM:204000, Orphanet:651779067237906723CT17:g.7906723C>T-
NM_000180.4(GUCY2D):c.363G>A (p.Val121=)3000GUCY2DLikely benign-1RCV002183809; NMONDO:MONDO:0011143,MedGen:C1866293,OMIM:601777, Orphanet:1872; MONDO:MONDO:0008764,MedGen:C2931258,OMIM:204000, Orphanet:651779067287906728GA7906728-
NM_000180.4(GUCY2D):c.366G>C (p.Ser122=)3000GUCY2DLikely benign-1RCV002125436; NMONDO:MONDO:0008764,MedGen:C2931258,OMIM:204000, Orphanet:65; MONDO:MONDO:0011143,MedGen:C1866293,OMIM:601777, Orphanet:18721779067317906731GC7906731-
NM_000180.4(GUCY2D):c.369C>T (p.Gly123=)3000GUCY2DConflicting interpretations of pathogenicityrs529594203RCV000415915|RCV001079674|RCV001706123; NMedGen:CN517202|MONDO:MONDO:0008764,MedGen:C2931258,OMIM:204000, Orphanet:65; MONDO:MONDO:0011143,MedGen:C1866293,OMIM:601777, Orphanet:1872|MedGen:CN1693741779067347906734CT17:g.7906734C>TClinGen:CA241302CN517202 not provided;
NM_000180.4(GUCY2D):c.381G>A (p.Pro127=)3000GUCY2DUncertain significance-1RCV002028435; NMONDO:MONDO:0011143,MedGen:C1866293,OMIM:601777, Orphanet:1872; MONDO:MONDO:0008764,MedGen:C2931258,OMIM:204000, Orphanet:651779067467906746GA7906746-
NM_000180.3(GUCY2D):c.389del (p.Pro130Leufs)3000GUCY2DPathogenicrs61749670RCV000009945|RCV000084897|RCV000693446|RCV001003037; NMONDO:MONDO:0008764,MedGen:C2931258,OMIM:204000, Orphanet:65|MedGen:CN517202|MONDO:MONDO:0011143,MedGen:C1866293,OMIM:601777, Orphanet:1872; MONDO:MONDO:0008764,MedGen:C2931258,OMIM:204000, Orphanet:65|MONDO:MONDO:0018998,MeSH:D057130,MedGen:C0339527,OMIM:P1779067527906752ACA17:g.7906752_7906752delClinGen:CA226143,OMIM:600179.0002C1866293 601777 Cone-rod dystrophy 6;
NM_000180.4(GUCY2D):c.393G>A (p.Ala131=)3000GUCY2DUncertain significancers1431229289RCV001306908; NMONDO:MONDO:0011143,MedGen:C1866293,OMIM:601777, Orphanet:1872; MONDO:MONDO:0008764,MedGen:C2931258,OMIM:204000, Orphanet:651779067587906758GA7906758-
NM_000180.4(GUCY2D):c.400C>T (p.Arg134Trp)3000GUCY2DUncertain significance-1RCV002003873; NMONDO:MONDO:0008764,MedGen:C2931258,OMIM:204000, Orphanet:65; MONDO:MONDO:0011143,MedGen:C1866293,OMIM:601777, Orphanet:18721779067657906765CT7906765-
NM_000180.4(GUCY2D):c.418G>A (p.Ala140Thr)3000GUCY2DUncertain significancers776276813RCV001306568; NMONDO:MONDO:0011143,MedGen:C1866293,OMIM:601777, Orphanet:1872; MONDO:MONDO:0008764,MedGen:C2931258,OMIM:204000, Orphanet:651779067837906783GA7906783-
NM_000180.4(GUCY2D):c.429C>T (p.Ala143=)3000GUCY2DLikely benign-1RCV001455933; NMONDO:MONDO:0011143,MedGen:C1866293,OMIM:601777, Orphanet:1872; MONDO:MONDO:0008764,MedGen:C2931258,OMIM:204000, Orphanet:651779067947906794CT7906794-
NM_000180.4(GUCY2D):c.431G>T (p.Gly144Val)3000GUCY2DUncertain significancers1975674167RCV001212926; NMONDO:MONDO:0011143,MedGen:C1866293,OMIM:601777, Orphanet:1872; MONDO:MONDO:0008764,MedGen:C2931258,OMIM:204000, Orphanet:651779067967906796GT17:g.7906796G>T-
NM_000180.4(GUCY2D):c.435C>A (p.Ile145=)3000GUCY2DLikely benign-1RCV001450266; NMONDO:MONDO:0011143,MedGen:C1866293,OMIM:601777, Orphanet:1872; MONDO:MONDO:0008764,MedGen:C2931258,OMIM:204000, Orphanet:651779068007906800CA7906800-
NM_000180.4(GUCY2D):c.451G>A (p.Gly151Ser)3000GUCY2DUncertain significance-1RCV001920119; NMONDO:MONDO:0011143,MedGen:C1866293,OMIM:601777, Orphanet:1872; MONDO:MONDO:0008764,MedGen:C2931258,OMIM:204000, Orphanet:651779068167906816GA7906816-
NM_000180.4(GUCY2D):c.452G>A (p.Gly151Asp)3000GUCY2DUncertain significance-1RCV001960308; NMONDO:MONDO:0011143,MedGen:C1866293,OMIM:601777, Orphanet:1872; MONDO:MONDO:0008764,MedGen:C2931258,OMIM:204000, Orphanet:651779068177906817GA7906817-
NM_000180.4(GUCY2D):c.459C>T (p.Pro153=)3000GUCY2DLikely benign-1RCV001497121; NMONDO:MONDO:0011143,MedGen:C1866293,OMIM:601777, Orphanet:1872; MONDO:MONDO:0008764,MedGen:C2931258,OMIM:204000, Orphanet:651779068247906824CT7906824-
NM_000180.4(GUCY2D):c.475G>A (p.Gly159Ser)3000GUCY2DUncertain significance-1RCV001882312; NMONDO:MONDO:0008764,MedGen:C2931258,OMIM:204000, Orphanet:65; MONDO:MONDO:0011143,MedGen:C1866293,OMIM:601777, Orphanet:18721779068407906840GA7906840-
NM_000180.4(GUCY2D):c.479C>T (p.Thr160Ile)3000GUCY2DUncertain significance-1RCV002017754; NMONDO:MONDO:0008764,MedGen:C2931258,OMIM:204000, Orphanet:65; MONDO:MONDO:0011143,MedGen:C1866293,OMIM:601777, Orphanet:18721779068447906844CT7906844-
NM_000180.4(GUCY2D):c.484dup (p.Ala162fs)3000GUCY2DPathogenic-1RCV001385235; NMONDO:MONDO:0011143,MedGen:C1866293,OMIM:601777, Orphanet:1872; MONDO:MONDO:0008764,MedGen:C2931258,OMIM:204000, Orphanet:651779068477906848CCG7906847-
NM_000180.4(GUCY2D):c.482C>T (p.Thr161Met)3000GUCY2DUncertain significance-1RCV002018146; NMONDO:MONDO:0008764,MedGen:C2931258,OMIM:204000, Orphanet:65; MONDO:MONDO:0011143,MedGen:C1866293,OMIM:601777, Orphanet:18721779068477906847CT7906847-
NM_000180.4(GUCY2D):c.483G>A (p.Thr161=)3000GUCY2DLikely benign-1RCV002139631; NMONDO:MONDO:0008764,MedGen:C2931258,OMIM:204000, Orphanet:65; MONDO:MONDO:0011143,MedGen:C1866293,OMIM:601777, Orphanet:18721779068487906848GA7906848-
NM_000180.4(GUCY2D):c.488C>T (p.Pro163Leu)3000GUCY2DConflicting interpretations of pathogenicity-1RCV001397931|RCV001762668; NMONDO:MONDO:0008764,MedGen:C2931258,OMIM:204000, Orphanet:65; MONDO:MONDO:0011143,MedGen:C1866293,OMIM:601777, Orphanet:1872|MedGen:CN5172021779068537906853CT7906853-
NM_000180.4(GUCY2D):c.510T>C (p.Asp170=)3000GUCY2DLikely benignrs753886745RCV000914218|RCV001430970; NMedGen:CN517202|MONDO:MONDO:0011143,MedGen:C1866293,OMIM:601777, Orphanet:1872; MONDO:MONDO:0008764,MedGen:C2931258,OMIM:204000, Orphanet:651779068757906875TC17:g.7906875T>C-
NM_000180.4(GUCY2D):c.519C>T (p.Tyr173=)3000GUCY2DConflicting interpretations of pathogenicityrs794727237RCV000175542|RCV002056937; NMedGen:CN517202|MONDO:MONDO:0008764,MedGen:C2931258,OMIM:204000, Orphanet:65; MONDO:MONDO:0011143,MedGen:C1866293,OMIM:601777, Orphanet:18721779068847906884CT17:g.7906884C>TClinGen:CA241300CN169374 not specified;
NM_000180.4(GUCY2D):c.520G>A (p.Ala174Thr)3000GUCY2DUncertain significancers978982123RCV001244132; NMONDO:MONDO:0008764,MedGen:C2931258,OMIM:204000, Orphanet:65; MONDO:MONDO:0011143,MedGen:C1866293,OMIM:601777, Orphanet:18721779068857906885GA17:g.7906885G>A-
NM_000180.4(GUCY2D):c.520G>T (p.Ala174Ser)3000GUCY2DUncertain significance-1RCV001966524; NMONDO:MONDO:0011143,MedGen:C1866293,OMIM:601777, Orphanet:1872; MONDO:MONDO:0008764,MedGen:C2931258,OMIM:204000, Orphanet:651779068857906885GT7906885-
NM_000180.4(GUCY2D):c.525G>A (p.Leu175=)3000GUCY2DLikely benignrs570251619RCV000943258; NMONDO:MONDO:0011143,MedGen:C1866293,OMIM:601777, Orphanet:1872; MONDO:MONDO:0008764,MedGen:C2931258,OMIM:204000, Orphanet:651779068907906890GA17:g.7906890G>A-
NM_000180.4(GUCY2D):c.526C>T (p.Leu176Phe)3000GUCY2DUncertain significance-1RCV001870667; NMONDO:MONDO:0008764,MedGen:C2931258,OMIM:204000, Orphanet:65; MONDO:MONDO:0011143,MedGen:C1866293,OMIM:601777, Orphanet:18721779068917906891CT7906891-
NM_000180.4(GUCY2D):c.534A>G (p.Ala178=)3000GUCY2DLikely benign-1RCV002073606; NMONDO:MONDO:0011143,MedGen:C1866293,OMIM:601777, Orphanet:1872; MONDO:MONDO:0008764,MedGen:C2931258,OMIM:204000, Orphanet:651779068997906899AG7906899-
NM_000180.4(GUCY2D):c.564del (p.Ala189fs)3000GUCY2DPathogenic-1RCV001390194; NMONDO:MONDO:0011143,MedGen:C1866293,OMIM:601777, Orphanet:1872; MONDO:MONDO:0008764,MedGen:C2931258,OMIM:204000, Orphanet:651779069287906928ACA7906927-
NM_000180.4(GUCY2D):c.566C>T (p.Ala189Val)3000GUCY2DUncertain significancers375259185RCV001092404|RCV001873455; NMedGen:CN517202|MONDO:MONDO:0008764,MedGen:C2931258,OMIM:204000, Orphanet:65; MONDO:MONDO:0011143,MedGen:C1866293,OMIM:601777, Orphanet:18721779069317906931CT17:g.7906931C>T-
NM_000180.4(GUCY2D):c.569C>G (p.Pro190Arg)3000GUCY2DUncertain significancers1484809146RCV001208175; NMONDO:MONDO:0011143,MedGen:C1866293,OMIM:601777, Orphanet:1872; MONDO:MONDO:0008764,MedGen:C2931258,OMIM:204000, Orphanet:651779069347906934CG17:g.7906934C>G-
NM_000180.4(GUCY2D):c.576C>A (p.Asp192Glu)3000GUCY2DUncertain significancers528169554RCV001068385; NMONDO:MONDO:0011143,MedGen:C1866293,OMIM:601777, Orphanet:1872; MONDO:MONDO:0008764,MedGen:C2931258,OMIM:204000, Orphanet:651779069417906941CA17:g.7906941C>A-
NM_000180.4(GUCY2D):c.595C>T (p.Arg199Cys)3000GUCY2DUncertain significancers917296356RCV001228532; NMONDO:MONDO:0008764,MedGen:C2931258,OMIM:204000, Orphanet:65; MONDO:MONDO:0011143,MedGen:C1866293,OMIM:601777, Orphanet:18721779069607906960CT17:g.7906960C>T-
NM_000180.4(GUCY2D):c.595C>A (p.Arg199Ser)3000GUCY2DUncertain significancers917296356RCV001244255; NMONDO:MONDO:0008764,MedGen:C2931258,OMIM:204000, Orphanet:65; MONDO:MONDO:0011143,MedGen:C1866293,OMIM:601777, Orphanet:18721779069607906960CA17:g.7906960C>A-
NM_000180.4(GUCY2D):c.603G>C (p.Leu201=)3000GUCY2DLikely benignrs369547545RCV000966588|RCV001488406; NMedGen:CN517202|MONDO:MONDO:0008764,MedGen:C2931258,OMIM:204000, Orphanet:65; MONDO:MONDO:0011143,MedGen:C1866293,OMIM:601777, Orphanet:18721779069687906968GC17:g.7906968G>C-
NM_000180.4(GUCY2D):c.607A>T (p.Thr203Ser)3000GUCY2DUncertain significancers1975680506RCV001308907; NMONDO:MONDO:0008764,MedGen:C2931258,OMIM:204000, Orphanet:65; MONDO:MONDO:0011143,MedGen:C1866293,OMIM:601777, Orphanet:18721779069727906972AT7906972-
NM_000180.4(GUCY2D):c.608C>T (p.Thr203Met)3000GUCY2DUncertain significance-1RCV002009319; NMONDO:MONDO:0008764,MedGen:C2931258,OMIM:204000, Orphanet:65; MONDO:MONDO:0011143,MedGen:C1866293,OMIM:601777, Orphanet:18721779069737906973CT7906973-
NM_000180.4(GUCY2D):c.613C>T (p.Leu205Phe)3000GUCY2DUncertain significancers764280512RCV001240450; NMONDO:MONDO:0008764,MedGen:C2931258,OMIM:204000, Orphanet:65; MONDO:MONDO:0011143,MedGen:C1866293,OMIM:601777, Orphanet:18721779069787906978CT17:g.7906978C>T-
NM_000180.4(GUCY2D):c.615C>A (p.Leu205=)3000GUCY2DBenign-1RCV001519235; NMONDO:MONDO:0011143,MedGen:C1866293,OMIM:601777, Orphanet:1872; MONDO:MONDO:0008764,MedGen:C2931258,OMIM:204000, Orphanet:651779069807906980CA7906980-
NM_000180.4(GUCY2D):c.621C>T (p.Ala207=)3000GUCY2DLikely benignrs757257247RCV000907692|RCV001413525; NMedGen:CN517202|MONDO:MONDO:0008764,MedGen:C2931258,OMIM:204000, Orphanet:65; MONDO:MONDO:0011143,MedGen:C1866293,OMIM:601777, Orphanet:18721779069867906986CT17:g.7906986C>T-
NM_000180.4(GUCY2D):c.623G>A (p.Arg208Gln)3000GUCY2DUncertain significancers765369504RCV001302195; NMONDO:MONDO:0008764,MedGen:C2931258,OMIM:204000, Orphanet:65; MONDO:MONDO:0011143,MedGen:C1866293,OMIM:601777, Orphanet:18721779069887906988GA7906988-
NM_000180.4(GUCY2D):c.652A>G (p.Met218Val)3000GUCY2DUncertain significance-1RCV001372655; NMONDO:MONDO:0008764,MedGen:C2931258,OMIM:204000, Orphanet:65; MONDO:MONDO:0011143,MedGen:C1866293,OMIM:601777, Orphanet:18721779070177907017AG7907017-
NM_000180.4(GUCY2D):c.659C>T (p.Pro220Leu)3000GUCY2DUncertain significance-1RCV001364773; NMONDO:MONDO:0011143,MedGen:C1866293,OMIM:601777, Orphanet:1872; MONDO:MONDO:0008764,MedGen:C2931258,OMIM:204000, Orphanet:651779070247907024CT7907024-
NM_000180.4(GUCY2D):c.679C>A (p.Arg227=)3000GUCY2DUncertain significance-1RCV001971350; NMONDO:MONDO:0011143,MedGen:C1866293,OMIM:601777, Orphanet:1872; MONDO:MONDO:0008764,MedGen:C2931258,OMIM:204000, Orphanet:651779070447907044CA7907044-
NM_000180.4(GUCY2D):c.680G>A (p.Arg227Gln)3000GUCY2DUncertain significance-1RCV002027982; NMONDO:MONDO:0011143,MedGen:C1866293,OMIM:601777, Orphanet:1872; MONDO:MONDO:0008764,MedGen:C2931258,OMIM:204000, Orphanet:651779070457907045GA7907045-
NM_000180.4(GUCY2D):c.690_693del (p.Lys232fs)3000GUCY2DPathogenic-1RCV001591785|RCV001866149; NMONDO:MONDO:0008764,MedGen:C2931258,OMIM:204000, Orphanet:65|MONDO:MONDO:0011143,MedGen:C1866293,OMIM:601777, Orphanet:1872; MONDO:MONDO:0008764,MedGen:C2931258,OMIM:204000, Orphanet:651779070557907058TGAGGT7907054-
NM_000180.4(GUCY2D):c.696G>T (p.Lys232Asn)3000GUCY2DUncertain significancers181800610RCV000533934; NMONDO:MONDO:0011143,MedGen:C1866293,OMIM:601777, Orphanet:1872; MONDO:MONDO:0008764,MedGen:C2931258,OMIM:204000, Orphanet:651779070617907061GTNC_000017.10:g.7907061G>TClinGen:CA8365536C1866293 601777 Cone-rod dystrophy 6;
NM_000180.4(GUCY2D):c.710C>A (p.Pro237His)3000GUCY2DUncertain significance-1RCV002044157; NMONDO:MONDO:0011143,MedGen:C1866293,OMIM:601777, Orphanet:1872; MONDO:MONDO:0008764,MedGen:C2931258,OMIM:204000, Orphanet:651779070757907075CA7907075-
NM_000180.4(GUCY2D):c.711C>A (p.Pro237=)3000GUCY2DLikely benignrs750484873RCV000939491; NMONDO:MONDO:0011143,MedGen:C1866293,OMIM:601777, Orphanet:1872; MONDO:MONDO:0008764,MedGen:C2931258,OMIM:204000, Orphanet:651779070767907076CA17:g.7907076C>A-
NM_000180.4(GUCY2D):c.721+5G>T3000GUCY2DUncertain significance-1RCV002048891; NMONDO:MONDO:0008764,MedGen:C2931258,OMIM:204000, Orphanet:65; MONDO:MONDO:0011143,MedGen:C1866293,OMIM:601777, Orphanet:18721779070917907091GT7907091-
NM_000180.4(GUCY2D):c.722-17C>A3000GUCY2DLikely benign-1RCV002187742; NMONDO:MONDO:0008764,MedGen:C2931258,OMIM:204000, Orphanet:65; MONDO:MONDO:0011143,MedGen:C1866293,OMIM:601777, Orphanet:18721779071537907153CA7907153-
NM_000180.4(GUCY2D):c.722-12C>T3000GUCY2DLikely benign-1RCV002139296; NMONDO:MONDO:0011143,MedGen:C1866293,OMIM:601777, Orphanet:1872; MONDO:MONDO:0008764,MedGen:C2931258,OMIM:204000, Orphanet:651779071587907158CT7907158-
NM_000180.4(GUCY2D):c.723A>G (p.Ala241=)3000GUCY2DLikely benign-1RCV002080446; NMONDO:MONDO:0011143,MedGen:C1866293,OMIM:601777, Orphanet:1872; MONDO:MONDO:0008764,MedGen:C2931258,OMIM:204000, Orphanet:651779071717907171AG7907171-
NM_000180.4(GUCY2D):c.730A>C (p.Met244Leu)3000GUCY2DUncertain significancers141956583RCV001065469; NMONDO:MONDO:0008764,MedGen:C2931258,OMIM:204000, Orphanet:65; MONDO:MONDO:0011143,MedGen:C1866293,OMIM:601777, Orphanet:18721779071787907178AC17:g.7907178A>C-
NM_000180.4(GUCY2D):c.736A>G (p.Met246Val)3000GUCY2DUncertain significance-1RCV002043211; NMONDO:MONDO:0008764,MedGen:C2931258,OMIM:204000, Orphanet:65; MONDO:MONDO:0011143,MedGen:C1866293,OMIM:601777, Orphanet:18721779071847907184AG7907184-
NM_000180.4(GUCY2D):c.741C>T (p.His247=)3000GUCY2DBenignrs3829789RCV000078321|RCV000838429|RCV001522237; NMedGen:CN169374|MedGen:CN517202|MONDO:MONDO:0011143,MedGen:C1866293,OMIM:601777, Orphanet:1872; MONDO:MONDO:0008764,MedGen:C2931258,OMIM:204000, Orphanet:651779071897907189CTNC_000017.10:g.7907189C>TClinGen:CA145846CN169374 not specified;
NM_000180.4(GUCY2D):c.743C>G (p.Ser248Trp)3000GUCY2DUncertain significance-1RCV001982693; NMONDO:MONDO:0008764,MedGen:C2931258,OMIM:204000, Orphanet:65; MONDO:MONDO:0011143,MedGen:C1866293,OMIM:601777, Orphanet:18721779071917907191CG7907191-
NM_000180.4(GUCY2D):c.750G>A (p.Leu250=)3000GUCY2DLikely benign-1RCV002181556; NMONDO:MONDO:0008764,MedGen:C2931258,OMIM:204000, Orphanet:65; MONDO:MONDO:0011143,MedGen:C1866293,OMIM:601777, Orphanet:18721779071987907198GA7907198-
NM_000180.4(GUCY2D):c.751C>T (p.Leu251=)3000GUCY2DLikely benign-1RCV001392431; NMONDO:MONDO:0008764,MedGen:C2931258,OMIM:204000, Orphanet:65; MONDO:MONDO:0011143,MedGen:C1866293,OMIM:601777, Orphanet:18721779071997907199CT7907199-
NM_000180.4(GUCY2D):c.752T>C (p.Leu251Pro)3000GUCY2DUncertain significancers1243270832RCV000799716; NMONDO:MONDO:0011143,MedGen:C1866293,OMIM:601777, Orphanet:1872; MONDO:MONDO:0008764,MedGen:C2931258,OMIM:204000, Orphanet:651779072007907200TC17:g.7907200T>C-
NM_000180.4(GUCY2D):c.760G>T (p.Glu254Ter)3000GUCY2DPathogenic-1RCV001963076; NMONDO:MONDO:0008764,MedGen:C2931258,OMIM:204000, Orphanet:65; MONDO:MONDO:0011143,MedGen:C1866293,OMIM:601777, Orphanet:18721779072087907208GT7907208-
NM_000180.4(GUCY2D):c.767A>C (p.Gln256Pro)3000GUCY2DUncertain significance-1RCV001986105; NMONDO:MONDO:0011143,MedGen:C1866293,OMIM:601777, Orphanet:1872; MONDO:MONDO:0008764,MedGen:C2931258,OMIM:204000, Orphanet:651779072157907215AC7907215-
NM_000180.4(GUCY2D):c.787G>T (p.Ala263Ser)3000GUCY2DUncertain significancers745444949RCV001040109; NMONDO:MONDO:0011143,MedGen:C1866293,OMIM:601777, Orphanet:1872; MONDO:MONDO:0008764,MedGen:C2931258,OMIM:204000, Orphanet:651779072357907235GT17:g.7907235G>T-
NM_000180.4(GUCY2D):c.793G>A (p.Glu265Lys)3000GUCY2DUncertain significancers1346762413RCV001318652; NMONDO:MONDO:0011143,MedGen:C1866293,OMIM:601777, Orphanet:1872; MONDO:MONDO:0008764,MedGen:C2931258,OMIM:204000, Orphanet:651779072417907241GA7907241-
NM_000180.4(GUCY2D):c.802C>A (p.Leu268Met)3000GUCY2DUncertain significance-1RCV001364393; NMONDO:MONDO:0011143,MedGen:C1866293,OMIM:601777, Orphanet:1872; MONDO:MONDO:0008764,MedGen:C2931258,OMIM:204000, Orphanet:651779072507907250CA7907250-
NM_000180.4(GUCY2D):c.808G>A (p.Asp270Asn)3000GUCY2DUncertain significance-1RCV002006549; NMONDO:MONDO:0011143,MedGen:C1866293,OMIM:601777, Orphanet:1872; MONDO:MONDO:0008764,MedGen:C2931258,OMIM:204000, Orphanet:651779072567907256GA7907256-
NM_000180.4(GUCY2D):c.822C>T (p.Val274=)3000GUCY2DLikely benign-1RCV002190432; NMONDO:MONDO:0011143,MedGen:C1866293,OMIM:601777, Orphanet:1872; MONDO:MONDO:0008764,MedGen:C2931258,OMIM:204000, Orphanet:651779072707907270CT7907270-
NM_000180.4(GUCY2D):c.834C>T (p.Phe278=)3000GUCY2DLikely benign-1RCV001491982; NMONDO:MONDO:0011143,MedGen:C1866293,OMIM:601777, Orphanet:1872; MONDO:MONDO:0008764,MedGen:C2931258,OMIM:204000, Orphanet:651779072827907282CT7907282-
NM_000180.4(GUCY2D):c.835G>A (p.Asp279Asn)3000GUCY2DUncertain significance-1RCV001360598; NMONDO:MONDO:0008764,MedGen:C2931258,OMIM:204000, Orphanet:65; MONDO:MONDO:0011143,MedGen:C1866293,OMIM:601777, Orphanet:18721779072837907283GA7907283-
NM_000180.4(GUCY2D):c.840G>T (p.Thr280=)3000GUCY2DLikely benign-1RCV001424253; NMONDO:MONDO:0011143,MedGen:C1866293,OMIM:601777, Orphanet:1872; MONDO:MONDO:0008764,MedGen:C2931258,OMIM:204000, Orphanet:651779072887907288GT7907288-
NM_000180.4(GUCY2D):c.856_876dup (p.Ser286_Leu292dup)3000GUCY2DUncertain significance-1RCV001984710; NMONDO:MONDO:0008764,MedGen:C2931258,OMIM:204000, Orphanet:65; MONDO:MONDO:0011143,MedGen:C1866293,OMIM:601777, Orphanet:18721779072977907298CCGCCTTGTCCCCAGGCCCGGAG7907297-
NM_000180.4(GUCY2D):c.866C>T (p.Pro289Leu)3000GUCY2DUncertain significance-1RCV001963756; NMONDO:MONDO:0011143,MedGen:C1866293,OMIM:601777, Orphanet:1872; MONDO:MONDO:0008764,MedGen:C2931258,OMIM:204000, Orphanet:651779073147907314CT7907314-
NM_000180.4(GUCY2D):c.884T>G (p.Leu295Arg)3000GUCY2DUncertain significance-1RCV001893808; NMONDO:MONDO:0008764,MedGen:C2931258,OMIM:204000, Orphanet:65; MONDO:MONDO:0011143,MedGen:C1866293,OMIM:601777, Orphanet:18721779073327907332TG7907332-
NM_000180.4(GUCY2D):c.885C>T (p.Leu295=)3000GUCY2DLikely benignrs746924059RCV000964651|RCV001464869; NMedGen:CN517202|MONDO:MONDO:0011143,MedGen:C1866293,OMIM:601777, Orphanet:1872; MONDO:MONDO:0008764,MedGen:C2931258,OMIM:204000, Orphanet:651779073337907333CT17:g.7907333C>T-
NM_000180.4(GUCY2D):c.887C>A (p.Ala296Asp)3000GUCY2DUncertain significance-1RCV001901974; NMONDO:MONDO:0011143,MedGen:C1866293,OMIM:601777, Orphanet:1872; MONDO:MONDO:0008764,MedGen:C2931258,OMIM:204000, Orphanet:651779073357907335CA7907335-
NM_000180.4(GUCY2D):c.909G>A (p.Arg303=)3000GUCY2DLikely benign-1RCV002140560; NMONDO:MONDO:0008764,MedGen:C2931258,OMIM:204000, Orphanet:65; MONDO:MONDO:0011143,MedGen:C1866293,OMIM:601777, Orphanet:18721779073577907357GA7907357-
NM_000180.4(GUCY2D):c.912C>A (p.Ala304=)3000GUCY2DLikely benign-1RCV002094235; NMONDO:MONDO:0008764,MedGen:C2931258,OMIM:204000, Orphanet:65; MONDO:MONDO:0011143,MedGen:C1866293,OMIM:601777, Orphanet:18721779073607907360CA7907360-
NM_000180.4(GUCY2D):c.914del (p.His305fs)3000GUCY2DPathogenicrs1598144694RCV000796233; NMONDO:MONDO:0008764,MedGen:C2931258,OMIM:204000, Orphanet:65; MONDO:MONDO:0011143,MedGen:C1866293,OMIM:601777, Orphanet:18721779073627907362CAC17:g.7907362_7907362del-
NM_000180.4(GUCY2D):c.915C>T (p.His305=)3000GUCY2DLikely benign-1RCV001460726; NMONDO:MONDO:0008764,MedGen:C2931258,OMIM:204000, Orphanet:65; MONDO:MONDO:0011143,MedGen:C1866293,OMIM:601777, Orphanet:18721779073637907363CT7907363-
NM_000180.4(GUCY2D):c.921C>T (p.Ala307=)3000GUCY2DConflicting interpretations of pathogenicityrs148136213RCV000728314|RCV001088183|RCV001700453; NMedGen:CN517202|MONDO:MONDO:0008764,MedGen:C2931258,OMIM:204000, Orphanet:65; MONDO:MONDO:0011143,MedGen:C1866293,OMIM:601777, Orphanet:1872|MedGen:CN1693741779073697907369CTNC_000017.10:g.7907369C>T-
NM_000180.4(GUCY2D):c.926_939del (p.Leu309fs)3000GUCY2DPathogenicrs1975693728RCV001230310; NMONDO:MONDO:0011143,MedGen:C1866293,OMIM:601777, Orphanet:1872; MONDO:MONDO:0008764,MedGen:C2931258,OMIM:204000, Orphanet:651779073727907385TGCTCACCCTCACGCT17:g.7907372_7907385del-
NM_000180.4(GUCY2D):c.935C>G (p.Thr312Arg)3000GUCY2DUncertain significance-1RCV001910060; NMONDO:MONDO:0011143,MedGen:C1866293,OMIM:601777, Orphanet:1872; MONDO:MONDO:0008764,MedGen:C2931258,OMIM:204000, Orphanet:651779073837907383CG7907383-
NM_000180.4(GUCY2D):c.937C>T (p.Arg313Cys)3000GUCY2DUncertain significancers61749674RCV000084907|RCV001250827|RCV001306870; NMedGen:CN517202|MONDO:MONDO:0008764,MedGen:C2931258,OMIM:204000, Orphanet:65|MONDO:MONDO:0011143,MedGen:C1866293,OMIM:601777, Orphanet:1872; MONDO:MONDO:0008764,MedGen:C2931258,OMIM:204000, Orphanet:651779073857907385CT17:g.7907385C>TClinGen:CA226156CN517202 not provided;
NM_000180.4(GUCY2D):c.956_967dup (p.Gly319_Leu322dup)3000GUCY2DUncertain significance-1RCV002012384; NMONDO:MONDO:0011143,MedGen:C1866293,OMIM:601777, Orphanet:1872; MONDO:MONDO:0008764,MedGen:C2931258,OMIM:204000, Orphanet:651779074027907403AAGGCAGCGTGCTG7907402-
NM_000180.4(GUCY2D):c.978C>T (p.Arg326=)3000GUCY2DLikely benign-1RCV001481321; NMONDO:MONDO:0008764,MedGen:C2931258,OMIM:204000, Orphanet:65; MONDO:MONDO:0011143,MedGen:C1866293,OMIM:601777, Orphanet:18721779074267907426CT7907426-
NM_000180.4(GUCY2D):c.990G>A (p.Glu330=)3000GUCY2DLikely benign-1RCV001485286; NMONDO:MONDO:0008764,MedGen:C2931258,OMIM:204000, Orphanet:65; MONDO:MONDO:0011143,MedGen:C1866293,OMIM:601777, Orphanet:18721779074387907438GA7907438-
NM_000180.4(GUCY2D):c.991C>A (p.Arg331Ser)3000GUCY2DUncertain significancers34596269RCV001065966; NMONDO:MONDO:0008764,MedGen:C2931258,OMIM:204000, Orphanet:65; MONDO:MONDO:0011143,MedGen:C1866293,OMIM:601777, Orphanet:18721779074397907439CA17:g.7907439C>A-
NM_000180.4(GUCY2D):c.997G>C (p.Glu333Gln)3000GUCY2DUncertain significance-1RCV001989209; NMONDO:MONDO:0008764,MedGen:C2931258,OMIM:204000, Orphanet:65; MONDO:MONDO:0011143,MedGen:C1866293,OMIM:601777, Orphanet:18721779074457907445GC7907445-
NM_000180.4(GUCY2D):c.999G>A (p.Glu333=)3000GUCY2DLikely benign-1RCV001432471; NMONDO:MONDO:0011143,MedGen:C1866293,OMIM:601777, Orphanet:1872; MONDO:MONDO:0008764,MedGen:C2931258,OMIM:204000, Orphanet:651779074477907447GA7907447-
NM_000180.4(GUCY2D):c.1012C>G (p.Leu338Val)3000GUCY2DUncertain significance-1RCV001369266; NMONDO:MONDO:0008764,MedGen:C2931258,OMIM:204000, Orphanet:65; MONDO:MONDO:0011143,MedGen:C1866293,OMIM:601777, Orphanet:18721779074607907460CG7907460-
NM_000180.4(GUCY2D):c.1021C>A (p.Gln341Lys)3000GUCY2DUncertain significancers368799458RCV001298220|RCV001760344; NMONDO:MONDO:0011143,MedGen:C1866293,OMIM:601777, Orphanet:1872; MONDO:MONDO:0008764,MedGen:C2931258,OMIM:204000, Orphanet:65|MedGen:CN5172021779074697907469CA7907469-
NM_000180.4(GUCY2D):c.1026+6C>T3000GUCY2DBenignrs147410617RCV000882165; NMONDO:MONDO:0011143,MedGen:C1866293,OMIM:601777, Orphanet:1872; MONDO:MONDO:0008764,MedGen:C2931258,OMIM:204000, Orphanet:651779074807907480CT17:g.7907480C>T-
NM_000180.4(GUCY2D):c.1026+9T>C3000GUCY2DLikely benign-1RCV002175150; NMONDO:MONDO:0008764,MedGen:C2931258,OMIM:204000, Orphanet:65; MONDO:MONDO:0011143,MedGen:C1866293,OMIM:601777, Orphanet:18721779074837907483TC7907483-
NM_000180.4(GUCY2D):c.1026+13G>A3000GUCY2DLikely benign-1RCV002220066; NMONDO:MONDO:0008764,MedGen:C2931258,OMIM:204000, Orphanet:65; MONDO:MONDO:0011143,MedGen:C1866293,OMIM:601777, Orphanet:18721779074877907487GA7907487-
NM_000180.4(GUCY2D):c.1026+15G>A3000GUCY2DLikely benign-1RCV002195493; NMONDO:MONDO:0011143,MedGen:C1866293,OMIM:601777, Orphanet:1872; MONDO:MONDO:0008764,MedGen:C2931258,OMIM:204000, Orphanet:651779074897907489GA7907489-
NM_000180.4(GUCY2D):c.1027-7_1027-5del3000GUCY2DUncertain significance-1RCV002003829; NMONDO:MONDO:0008764,MedGen:C2931258,OMIM:204000, Orphanet:65; MONDO:MONDO:0011143,MedGen:C1866293,OMIM:601777, Orphanet:18721779096727909674CCTTC7909671-
NM_000180.4(GUCY2D):c.1027-7T>G3000GUCY2DLikely benign-1RCV001486436; NMONDO:MONDO:0008764,MedGen:C2931258,OMIM:204000, Orphanet:65; MONDO:MONDO:0011143,MedGen:C1866293,OMIM:601777, Orphanet:18721779096747909674TG7909674-
NM_000180.4(GUCY2D):c.1031C>G (p.Ser344Cys)3000GUCY2DUncertain significancers768812125RCV001307489; NMONDO:MONDO:0011143,MedGen:C1866293,OMIM:601777, Orphanet:1872; MONDO:MONDO:0008764,MedGen:C2931258,OMIM:204000, Orphanet:651779096857909685CG7909685-
NM_000180.4(GUCY2D):c.1033C>G (p.Pro345Ala)3000GUCY2DUncertain significance-1RCV001982333; NMONDO:MONDO:0008764,MedGen:C2931258,OMIM:204000, Orphanet:65; MONDO:MONDO:0011143,MedGen:C1866293,OMIM:601777, Orphanet:18721779096877909687CG7909687-
NM_000180.4(GUCY2D):c.1037T>A (p.Leu346His)3000GUCY2DUncertain significancers1372180006RCV001319319; NMONDO:MONDO:0011143,MedGen:C1866293,OMIM:601777, Orphanet:1872; MONDO:MONDO:0008764,MedGen:C2931258,OMIM:204000, Orphanet:651779096917909691TA7909691-
NM_000180.4(GUCY2D):c.1044C>T (p.Gly348=)3000GUCY2DLikely benign-1RCV002153562; NMONDO:MONDO:0008764,MedGen:C2931258,OMIM:204000, Orphanet:65; MONDO:MONDO:0011143,MedGen:C1866293,OMIM:601777, Orphanet:18721779096987909698CT7909698-
NM_000180.4(GUCY2D):c.1052A>G (p.Tyr351Cys)3000GUCY2DLikely pathogenicrs61749676RCV000084827|RCV001377421|RCV001250829; NMedGen:CN517202|MONDO:MONDO:0011143,MedGen:C1866293,OMIM:601777, Orphanet:1872; MONDO:MONDO:0008764,MedGen:C2931258,OMIM:204000, Orphanet:65|MONDO:MONDO:0008764,MedGen:C2931258,OMIM:204000, Orphanet:651779097067909706AG17:g.7909706A>GClinGen:CA226036CN517202 not provided;
NM_000180.4(GUCY2D):c.1060G>A (p.Val354Ile)3000GUCY2DUncertain significance-1RCV001367419; NMONDO:MONDO:0008764,MedGen:C2931258,OMIM:204000, Orphanet:65; MONDO:MONDO:0011143,MedGen:C1866293,OMIM:601777, Orphanet:18721779097147909714GA7909714-
NM_000180.4(GUCY2D):c.1080C>T (p.Gly360=)3000GUCY2DUncertain significancers1264540934RCV001061231; NMONDO:MONDO:0011143,MedGen:C1866293,OMIM:601777, Orphanet:1872; MONDO:MONDO:0008764,MedGen:C2931258,OMIM:204000, Orphanet:651779097347909734CT17:g.7909734C>T-
NM_000180.4(GUCY2D):c.1081G>A (p.Val361Met)3000GUCY2DUncertain significancers186508466RCV001055559; NMONDO:MONDO:0011143,MedGen:C1866293,OMIM:601777, Orphanet:1872; MONDO:MONDO:0008764,MedGen:C2931258,OMIM:204000, Orphanet:651779097357909735GA17:g.7909735G>A-
NM_000180.4(GUCY2D):c.1093C>T (p.Arg365Trp)3000GUCY2DConflicting interpretations of pathogenicityrs138836357RCV000487602|RCV000989735|RCV001001148|RCV001083929; NMedGen:CN517202|MONDO:MONDO:0011143,MedGen:C1866293,OMIM:601777, Orphanet:1872|MedGen:CN169374|MONDO:MONDO:0008764,MedGen:C2931258,OMIM:204000, Orphanet:65; MONDO:MONDO:0011143,MedGen:C1866293,OMIM:601777, Orphanet:18721779097477909747CT17:g.7909747C>TClinGen:CA245079CN517202 not provided;
NM_000180.4(GUCY2D):c.1094G>A (p.Arg365Gln)3000GUCY2DUncertain significancers141917297RCV001201551; NMONDO:MONDO:0011143,MedGen:C1866293,OMIM:601777, Orphanet:1872; MONDO:MONDO:0008764,MedGen:C2931258,OMIM:204000, Orphanet:651779097487909748GA17:g.7909748G>A-
NM_000180.4(GUCY2D):c.1099G>A (p.Ala367Thr)3000GUCY2DUncertain significance-1RCV001990413; NMONDO:MONDO:0011143,MedGen:C1866293,OMIM:601777, Orphanet:1872; MONDO:MONDO:0008764,MedGen:C2931258,OMIM:204000, Orphanet:651779097537909753GA7909753-
NM_000180.4(GUCY2D):c.1116G>T (p.Trp372Cys)3000GUCY2DUncertain significance-1RCV001358897; NMONDO:MONDO:0008764,MedGen:C2931258,OMIM:204000, Orphanet:65; MONDO:MONDO:0011143,MedGen:C1866293,OMIM:601777, Orphanet:18721779097707909770GT7909770-
NM_000180.4(GUCY2D):c.1119G>A (p.Val373=)3000GUCY2DBenign/Likely benignrs56034424RCV000536900|RCV001550680; NMONDO:MONDO:0008764,MedGen:C2931258,OMIM:204000, Orphanet:65; MONDO:MONDO:0011143,MedGen:C1866293,OMIM:601777, Orphanet:1872|MedGen:CN5172021779097737909773GA17:g.7909773G>AClinGen:CA8365656C1866293 601777 Cone-rod dystrophy 6;
NM_000180.4(GUCY2D):c.1120T>G (p.Ser374Ala)3000GUCY2DUncertain significance-1RCV001993409; NMONDO:MONDO:0011143,MedGen:C1866293,OMIM:601777, Orphanet:1872; MONDO:MONDO:0008764,MedGen:C2931258,OMIM:204000, Orphanet:651779097747909774TG7909774-
NM_000180.4(GUCY2D):c.1134G>A (p.Val378=)3000GUCY2DLikely benign-1RCV001418877; NMONDO:MONDO:0011143,MedGen:C1866293,OMIM:601777, Orphanet:1872; MONDO:MONDO:0008764,MedGen:C2931258,OMIM:204000, Orphanet:651779097887909788GA7909788-
NM_000180.4(GUCY2D):c.1138C>T (p.Arg380Cys)3000GUCY2DConflicting interpretations of pathogenicityrs775105018RCV000756220|RCV001078901; NMedGen:CN517202|MONDO:MONDO:0008764,MedGen:C2931258,OMIM:204000, Orphanet:65; MONDO:MONDO:0011143,MedGen:C1866293,OMIM:601777, Orphanet:18721779097927909792CTNC_000017.10:g.7909792C>T-
NM_000180.4(GUCY2D):c.1146C>T (p.Ile382=)3000GUCY2DLikely benign-1RCV002150524; NMONDO:MONDO:0008764,MedGen:C2931258,OMIM:204000, Orphanet:65; MONDO:MONDO:0011143,MedGen:C1866293,OMIM:601777, Orphanet:18721779098007909800CT7909800-
NM_000180.4(GUCY2D):c.1147C>T (p.Arg383Trp)3000GUCY2DUncertain significancers545271894RCV001040345; NMONDO:MONDO:0011143,MedGen:C1866293,OMIM:601777, Orphanet:1872; MONDO:MONDO:0008764,MedGen:C2931258,OMIM:204000, Orphanet:651779098017909801CT17:g.7909801C>T-
NM_000180.4(GUCY2D):c.1148G>A (p.Arg383Gln)3000GUCY2DUncertain significancers373827556RCV001297488; NMONDO:MONDO:0011143,MedGen:C1866293,OMIM:601777, Orphanet:1872; MONDO:MONDO:0008764,MedGen:C2931258,OMIM:204000, Orphanet:651779098027909802GA7909802-
NM_000180.4(GUCY2D):c.1149G>C (p.Arg383=)3000GUCY2DLikely benign-1RCV001488560; NMONDO:MONDO:0008764,MedGen:C2931258,OMIM:204000, Orphanet:65; MONDO:MONDO:0011143,MedGen:C1866293,OMIM:601777, Orphanet:18721779098037909803GC7909803-
NM_000180.4(GUCY2D):c.1154C>T (p.Ala385Val)3000GUCY2DUncertain significancers1301307214RCV001244020; NMONDO:MONDO:0008764,MedGen:C2931258,OMIM:204000, Orphanet:65; MONDO:MONDO:0011143,MedGen:C1866293,OMIM:601777, Orphanet:18721779098087909808CT17:g.7909808C>T-
NM_000180.4(GUCY2D):c.1155G>A (p.Ala385=)3000GUCY2DLikely benign-1RCV001457362; NMONDO:MONDO:0011143,MedGen:C1866293,OMIM:601777, Orphanet:1872; MONDO:MONDO:0008764,MedGen:C2931258,OMIM:204000, Orphanet:651779098097909809GA7909809-
NM_000180.4(GUCY2D):c.1160T>A (p.Val387Asp)3000GUCY2DLikely benignrs755223158RCV000983924; NMONDO:MONDO:0008764,MedGen:C2931258,OMIM:204000, Orphanet:65; MONDO:MONDO:0011143,MedGen:C1866293,OMIM:601777, Orphanet:18721779098147909814TA17:g.7909814T>A-
NM_000180.4(GUCY2D):c.1180C>T (p.Leu394=)3000GUCY2DLikely benign-1RCV002086562; NMONDO:MONDO:0011143,MedGen:C1866293,OMIM:601777, Orphanet:1872; MONDO:MONDO:0008764,MedGen:C2931258,OMIM:204000, Orphanet:651779098347909834CT7909834-
NM_000180.4(GUCY2D):c.1220C>T (p.Thr407Met)3000GUCY2DUncertain significance-1RCV002038083; NMONDO:MONDO:0008764,MedGen:C2931258,OMIM:204000, Orphanet:65; MONDO:MONDO:0011143,MedGen:C1866293,OMIM:601777, Orphanet:18721779098747909874CT7909874-
NM_000180.4(GUCY2D):c.1224C>T (p.Asp408=)3000GUCY2DLikely benign-1RCV002125382; NMONDO:MONDO:0008764,MedGen:C2931258,OMIM:204000, Orphanet:65; MONDO:MONDO:0011143,MedGen:C1866293,OMIM:601777, Orphanet:18721779098787909878CT7909878-
NM_000180.4(GUCY2D):c.1225G>A (p.Ala409Thr)3000GUCY2DUncertain significance-1RCV001908607; NMONDO:MONDO:0008764,MedGen:C2931258,OMIM:204000, Orphanet:65; MONDO:MONDO:0011143,MedGen:C1866293,OMIM:601777, Orphanet:18721779098797909879GA7909879-
NM_000180.4(GUCY2D):c.1227G>A (p.Ala409=)3000GUCY2DLikely benign-1RCV001464122; NMONDO:MONDO:0011143,MedGen:C1866293,OMIM:601777, Orphanet:1872; MONDO:MONDO:0008764,MedGen:C2931258,OMIM:204000, Orphanet:651779098817909881GA7909881-
NM_000180.4(GUCY2D):c.1229C>T (p.Ala410Val)3000GUCY2DUncertain significancers773030462RCV001204647; NMONDO:MONDO:0011143,MedGen:C1866293,OMIM:601777, Orphanet:1872; MONDO:MONDO:0008764,MedGen:C2931258,OMIM:204000, Orphanet:651779098837909883CT17:g.7909883C>T-
NM_000180.4(GUCY2D):c.1230G>A (p.Ala410=)3000GUCY2DLikely benignrs542570988RCV000952174; NMONDO:MONDO:0008764,MedGen:C2931258,OMIM:204000, Orphanet:65; MONDO:MONDO:0011143,MedGen:C1866293,OMIM:601777, Orphanet:18721779098847909884GA17:g.7909884G>A-
NM_000180.4(GUCY2D):c.1236C>T (p.Asp412=)3000GUCY2DConflicting interpretations of pathogenicityrs61749678RCV000084830|RCV001087384|RCV001705813; NMedGen:CN517202|MONDO:MONDO:0011143,MedGen:C1866293,OMIM:601777, Orphanet:1872; MONDO:MONDO:0008764,MedGen:C2931258,OMIM:204000, Orphanet:65|MedGen:CN1693741779098907909890CT17:g.7909890C>TClinGen:CA226041CN517202 not provided;
NM_000180.4(GUCY2D):c.1238G>A (p.Arg413Gln)3000GUCY2DUncertain significancers1253086014RCV001306339; NMONDO:MONDO:0011143,MedGen:C1866293,OMIM:601777, Orphanet:1872; MONDO:MONDO:0008764,MedGen:C2931258,OMIM:204000, Orphanet:651779098927909892GA7909892-
NM_000180.4(GUCY2D):c.1245del (p.Phe415fs)3000GUCY2DPathogenicrs1598146173RCV000989736|RCV001858713; NMONDO:MONDO:0011143,MedGen:C1866293,OMIM:601777, Orphanet:1872|MONDO:MONDO:0011143,MedGen:C1866293,OMIM:601777, Orphanet:1872; MONDO:MONDO:0008764,MedGen:C2931258,OMIM:204000, Orphanet:651779098957909895CTC17:g.7909895_7909895del-
NM_000180.4(GUCY2D):c.1255A>C (p.Met419Leu)3000GUCY2DUncertain significance-1RCV001912808; NMONDO:MONDO:0011143,MedGen:C1866293,OMIM:601777, Orphanet:1872; MONDO:MONDO:0008764,MedGen:C2931258,OMIM:204000, Orphanet:651779099097909909AC7909909-
NM_000180.4(GUCY2D):c.1257G>A (p.Met419Ile)3000GUCY2DUncertain significancers202111469RCV001232330; NMONDO:MONDO:0008764,MedGen:C2931258,OMIM:204000, Orphanet:65; MONDO:MONDO:0011143,MedGen:C1866293,OMIM:601777, Orphanet:18721779099117909911GA17:g.7909911G>A-
NM_000180.4(GUCY2D):c.1257G>T (p.Met419Ile)3000GUCY2DUncertain significance-1RCV001367920; NMONDO:MONDO:0008764,MedGen:C2931258,OMIM:204000, Orphanet:65; MONDO:MONDO:0011143,MedGen:C1866293,OMIM:601777, Orphanet:18721779099117909911GT7909911-
NM_000180.4(GUCY2D):c.1265C>T (p.Pro422Leu)3000GUCY2DUncertain significance-1RCV001958411; NMONDO:MONDO:0008764,MedGen:C2931258,OMIM:204000, Orphanet:65; MONDO:MONDO:0011143,MedGen:C1866293,OMIM:601777, Orphanet:18721779099197909919CT7909919-
NM_000180.4(GUCY2D):c.1274G>C (p.Gly425Ala)3000GUCY2DUncertain significancers375468242RCV001318877; NMONDO:MONDO:0011143,MedGen:C1866293,OMIM:601777, Orphanet:1872; MONDO:MONDO:0008764,MedGen:C2931258,OMIM:204000, Orphanet:651779099287909928GC7909928-
NM_000180.4(GUCY2D):c.1275C>A (p.Gly425=)3000GUCY2DLikely benign-1RCV001489064; NMONDO:MONDO:0008764,MedGen:C2931258,OMIM:204000, Orphanet:65; MONDO:MONDO:0011143,MedGen:C1866293,OMIM:601777, Orphanet:18721779099297909929CA7909929-
NM_000180.4(GUCY2D):c.1278C>T (p.Ser426=)3000GUCY2DLikely benignrs746671374RCV000965367; NMONDO:MONDO:0008764,MedGen:C2931258,OMIM:204000, Orphanet:65; MONDO:MONDO:0011143,MedGen:C1866293,OMIM:601777, Orphanet:18721779099327909932CT17:g.7909932C>T-
NM_000180.4(GUCY2D):c.1284C>T (p.Leu428=)3000GUCY2DLikely benign-1RCV001404813; NMONDO:MONDO:0011143,MedGen:C1866293,OMIM:601777, Orphanet:1872; MONDO:MONDO:0008764,MedGen:C2931258,OMIM:204000, Orphanet:651779099387909938CT7909938-
NM_000180.4(GUCY2D):c.1287C>T (p.Ser429=)3000GUCY2DLikely benign-1RCV001444606; NMONDO:MONDO:0011143,MedGen:C1866293,OMIM:601777, Orphanet:1872; MONDO:MONDO:0008764,MedGen:C2931258,OMIM:204000, Orphanet:651779099417909941CT7909941-
NM_000180.4(GUCY2D):c.1288G>A (p.Ala430Thr)3000GUCY2DUncertain significance-1RCV001373686; NMONDO:MONDO:0008764,MedGen:C2931258,OMIM:204000, Orphanet:65; MONDO:MONDO:0011143,MedGen:C1866293,OMIM:601777, Orphanet:18721779099427909942GA7909942-
NM_000180.4(GUCY2D):c.1290C>T (p.Ala430=)3000GUCY2DConflicting interpretations of pathogenicityrs141967896RCV000178057|RCV001078797; NMedGen:CN517202|MONDO:MONDO:0008764,MedGen:C2931258,OMIM:204000, Orphanet:65; MONDO:MONDO:0011143,MedGen:C1866293,OMIM:601777, Orphanet:18721779099447909944CT17:g.7909944C>TClinGen:CA245077CN169374 not specified;
NM_000180.4(GUCY2D):c.1290C>A (p.Ala430=)3000GUCY2DUncertain significance-1RCV001979325; NMONDO:MONDO:0011143,MedGen:C1866293,OMIM:601777, Orphanet:1872; MONDO:MONDO:0008764,MedGen:C2931258,OMIM:204000, Orphanet:651779099447909944CA7909944-
NM_000180.4(GUCY2D):c.1297C>G (p.Arg433Gly)3000GUCY2DUncertain significancers769749617RCV001227623; NMONDO:MONDO:0008764,MedGen:C2931258,OMIM:204000, Orphanet:65; MONDO:MONDO:0011143,MedGen:C1866293,OMIM:601777, Orphanet:18721779099517909951CG17:g.7909951C>G-
NM_000180.4(GUCY2D):c.1297C>T (p.Arg433Trp)3000GUCY2DUncertain significance-1RCV001867259; NMONDO:MONDO:0008764,MedGen:C2931258,OMIM:204000, Orphanet:65; MONDO:MONDO:0011143,MedGen:C1866293,OMIM:601777, Orphanet:18721779099517909951CT7909951-
NM_000180.4(GUCY2D):c.1298G>A (p.Arg433Gln)3000GUCY2DUncertain significance-1RCV001373377; NMONDO:MONDO:0008764,MedGen:C2931258,OMIM:204000, Orphanet:65; MONDO:MONDO:0011143,MedGen:C1866293,OMIM:601777, Orphanet:18721779099527909952GA7909952-
NM_000180.4(GUCY2D):c.1305C>T (p.His435=)3000GUCY2DLikely benign-1RCV001460703; NMONDO:MONDO:0008764,MedGen:C2931258,OMIM:204000, Orphanet:65; MONDO:MONDO:0011143,MedGen:C1866293,OMIM:601777, Orphanet:18721779099597909959CT7909959-
NM_000180.4(GUCY2D):c.1312C>T (p.Arg438Cys)3000GUCY2DUncertain significancers565948960RCV001301956; NMONDO:MONDO:0008764,MedGen:C2931258,OMIM:204000, Orphanet:65; MONDO:MONDO:0011143,MedGen:C1866293,OMIM:601777, Orphanet:18721779099667909966CT7909966-
NM_000180.4(GUCY2D):c.1315G>T (p.Gly439Trp)3000GUCY2DUncertain significance-1RCV002048006; NMONDO:MONDO:0011143,MedGen:C1866293,OMIM:601777, Orphanet:1872; MONDO:MONDO:0008764,MedGen:C2931258,OMIM:204000, Orphanet:651779099697909969GT7909969-
NM_000180.4(GUCY2D):c.1317G>A (p.Gly439=)3000GUCY2DLikely benign-1RCV002007555; NMONDO:MONDO:0011143,MedGen:C1866293,OMIM:601777, Orphanet:1872; MONDO:MONDO:0008764,MedGen:C2931258,OMIM:204000, Orphanet:651779099717909971GA7909971-
NM_000180.4(GUCY2D):c.1320A>G (p.Gly440=)3000GUCY2DUncertain significance-1RCV001872384; NMONDO:MONDO:0008764,MedGen:C2931258,OMIM:204000, Orphanet:65; MONDO:MONDO:0011143,MedGen:C1866293,OMIM:601777, Orphanet:18721779099747909974AG7909974-
NM_000180.4(GUCY2D):c.1323A>T (p.Ser441=)3000GUCY2DLikely benign-1RCV002150336; NMONDO:MONDO:0008764,MedGen:C2931258,OMIM:204000, Orphanet:65; MONDO:MONDO:0011143,MedGen:C1866293,OMIM:601777, Orphanet:18721779099777909977AT7909977-
NM_000180.4(GUCY2D):c.1329C>T (p.Pro443=)3000GUCY2DLikely benign-1RCV002100904; NMONDO:MONDO:0008764,MedGen:C2931258,OMIM:204000, Orphanet:65; MONDO:MONDO:0011143,MedGen:C1866293,OMIM:601777, Orphanet:18721779099837909983CT7909983-
NM_000180.4(GUCY2D):c.1339C>T (p.Pro447Ser)3000GUCY2DUncertain significancers1029006549RCV000678574|RCV001796769|RCV001855624; NMONDO:MONDO:0011143,MedGen:C1866293,OMIM:601777, Orphanet:1872|MedGen:CN517202|MONDO:MONDO:0011143,MedGen:C1866293,OMIM:601777, Orphanet:1872; MONDO:MONDO:0008764,MedGen:C2931258,OMIM:204000, Orphanet:651779099937909993CTNC_000017.10:g.7909993C>T-C1866293 601777 Cone-rod dystrophy 6;
NM_000180.4(GUCY2D):c.1343C>A (p.Ser448Ter)3000GUCY2DPathogenicrs61749679RCV000084831|RCV000989737|RCV001037164|RCV001250830; NMedGen:CN517202|MONDO:MONDO:0011143,MedGen:C1866293,OMIM:601777, Orphanet:1872|MONDO:MONDO:0011143,MedGen:C1866293,OMIM:601777, Orphanet:1872; MONDO:MONDO:0008764,MedGen:C2931258,OMIM:204000, Orphanet:65|MONDO:MONDO:0008764,MedGen:C2931258,OMIM:204000,Orpha1779099977909997CA17:g.7909997C>AClinGen:CA226043CN517202 not provided;
NM_000180.4(GUCY2D):c.1343C>T (p.Ser448Leu)3000GUCY2DUncertain significancers61749679RCV001313431; NMONDO:MONDO:0011143,MedGen:C1866293,OMIM:601777, Orphanet:1872; MONDO:MONDO:0008764,MedGen:C2931258,OMIM:204000, Orphanet:651779099977909997CT7909997-
NM_000180.4(GUCY2D):c.1361_1367del (p.Asn454fs)3000GUCY2DPathogenic-1RCV001381442; NMONDO:MONDO:0011143,MedGen:C1866293,OMIM:601777, Orphanet:1872; MONDO:MONDO:0008764,MedGen:C2931258,OMIM:204000, Orphanet:651779100157910021AACAACATA7910014-
NM_000180.4(GUCY2D):c.1368C>T (p.Ile456=)3000GUCY2DLikely benign-1RCV001498194; NMONDO:MONDO:0011143,MedGen:C1866293,OMIM:601777, Orphanet:1872; MONDO:MONDO:0008764,MedGen:C2931258,OMIM:204000, Orphanet:651779100227910022CT7910022-
NM_000180.4(GUCY2D):c.1371C>T (p.Cys457=)3000GUCY2DBenignrs55916957RCV000178056|RCV001519070|RCV001675658; NMedGen:CN169374|MONDO:MONDO:0008764,MedGen:C2931258,OMIM:204000, Orphanet:65; MONDO:MONDO:0011143,MedGen:C1866293,OMIM:601777, Orphanet:1872|MedGen:CN5172021779100257910025CT17:g.7910025C>TClinGen:CA202700CN169374 not specified;
NM_000180.4(GUCY2D):c.1378+5G>A3000GUCY2DUncertain significance-1RCV001966897; NMONDO:MONDO:0008764,MedGen:C2931258,OMIM:204000, Orphanet:65; MONDO:MONDO:0011143,MedGen:C1866293,OMIM:601777, Orphanet:18721779100377910037GA7910037-
NM_000180.4(GUCY2D):c.1378+5G>C3000GUCY2DUncertain significance-1RCV001947361; NMONDO:MONDO:0011143,MedGen:C1866293,OMIM:601777, Orphanet:1872; MONDO:MONDO:0008764,MedGen:C2931258,OMIM:204000, Orphanet:651779100377910037GC7910037-
NM_000180.4(GUCY2D):c.1378+8C>A3000GUCY2DLikely benignrs1457493139RCV000907864|RCV002065765; NMedGen:CN517202|MONDO:MONDO:0011143,MedGen:C1866293,OMIM:601777, Orphanet:1872; MONDO:MONDO:0008764,MedGen:C2931258,OMIM:204000, Orphanet:651779100407910040CA17:g.7910040C>A-
NM_000180.4(GUCY2D):c.1378+8C>T3000GUCY2DUncertain significancers1457493139RCV001339695; NMONDO:MONDO:0008764,MedGen:C2931258,OMIM:204000, Orphanet:65; MONDO:MONDO:0011143,MedGen:C1866293,OMIM:601777, Orphanet:18721779100407910040CT7910040-
NM_000180.4(GUCY2D):c.1378+12C>T3000GUCY2DLikely benign-1RCV002212666; NMONDO:MONDO:0011143,MedGen:C1866293,OMIM:601777, Orphanet:1872; MONDO:MONDO:0008764,MedGen:C2931258,OMIM:204000, Orphanet:651779100447910044CT7910044-
NM_000180.4(GUCY2D):c.1378+16C>G3000GUCY2DLikely benign-1RCV002115009; NMONDO:MONDO:0008764,MedGen:C2931258,OMIM:204000, Orphanet:65; MONDO:MONDO:0011143,MedGen:C1866293,OMIM:601777, Orphanet:18721779100487910048CG7910048-
NM_000180.4(GUCY2D):c.1379-8C>T3000GUCY2DLikely benign-1RCV001460877; NMONDO:MONDO:0008764,MedGen:C2931258,OMIM:204000, Orphanet:65; MONDO:MONDO:0011143,MedGen:C1866293,OMIM:601777, Orphanet:18721779103707910370CT7910370-
NM_000180.4(GUCY2D):c.1403T>C (p.Leu468Pro)3000GUCY2DUncertain significance-1RCV001914447; NMONDO:MONDO:0011143,MedGen:C1866293,OMIM:601777, Orphanet:1872; MONDO:MONDO:0008764,MedGen:C2931258,OMIM:204000, Orphanet:651779104027910402TC7910402-
NM_000180.4(GUCY2D):c.1405G>A (p.Gly469Ser)3000GUCY2DUncertain significance-1RCV001875111; NMONDO:MONDO:0008764,MedGen:C2931258,OMIM:204000, Orphanet:65; MONDO:MONDO:0011143,MedGen:C1866293,OMIM:601777, Orphanet:18721779104047910404GA7910404-
NM_000180.4(GUCY2D):c.1415T>C (p.Leu472Pro)3000GUCY2DUncertain significance-1RCV001867648; NMONDO:MONDO:0011143,MedGen:C1866293,OMIM:601777, Orphanet:1872; MONDO:MONDO:0008764,MedGen:C2931258,OMIM:204000, Orphanet:651779104147910414TC7910414-
NM_000180.4(GUCY2D):c.1432C>T (p.Leu478=)3000GUCY2DLikely benign-1RCV002078555; NMONDO:MONDO:0008764,MedGen:C2931258,OMIM:204000, Orphanet:65; MONDO:MONDO:0011143,MedGen:C1866293,OMIM:601777, Orphanet:18721779104317910431CT7910431-
NM_000180.4(GUCY2D):c.1433T>C (p.Leu478Pro)3000GUCY2DUncertain significance-1RCV001765550|RCV001882890; NMedGen:CN517202|MONDO:MONDO:0008764,MedGen:C2931258,OMIM:204000, Orphanet:65; MONDO:MONDO:0011143,MedGen:C1866293,OMIM:601777, Orphanet:18721779104327910432TC7910432-
NM_000180.4(GUCY2D):c.1440G>A (p.Gly480=)3000GUCY2DLikely benign-1RCV001398617; NMONDO:MONDO:0011143,MedGen:C1866293,OMIM:601777, Orphanet:1872; MONDO:MONDO:0008764,MedGen:C2931258,OMIM:204000, Orphanet:651779104397910439GA7910439-
NM_000180.4(GUCY2D):c.1449G>A (p.Leu483=)3000GUCY2DUncertain significance-1RCV001964473; NMONDO:MONDO:0011143,MedGen:C1866293,OMIM:601777, Orphanet:1872; MONDO:MONDO:0008764,MedGen:C2931258,OMIM:204000, Orphanet:651779104487910448GA7910448-
NM_000180.4(GUCY2D):c.1463+15G>T3000GUCY2DLikely benign-1RCV001502556; NMONDO:MONDO:0011143,MedGen:C1866293,OMIM:601777, Orphanet:1872; MONDO:MONDO:0008764,MedGen:C2931258,OMIM:204000, Orphanet:651779104777910477GT7910477-
NM_000180.4(GUCY2D):c.1463+20A>G3000GUCY2DLikely benign-1RCV002212555; NMONDO:MONDO:0011143,MedGen:C1866293,OMIM:601777, Orphanet:1872; MONDO:MONDO:0008764,MedGen:C2931258,OMIM:204000, Orphanet:651779104827910482AG7910482-
NM_000180.4(GUCY2D):c.1464-15del3000GUCY2DLikely benign-1RCV001402866; NMONDO:MONDO:0011143,MedGen:C1866293,OMIM:601777, Orphanet:1872; MONDO:MONDO:0008764,MedGen:C2931258,OMIM:204000, Orphanet:651779107287910728ACA7910727-
NM_000180.4(GUCY2D):c.1469G>A (p.Arg490Gln)3000GUCY2DUncertain significancers753488664RCV001317435; NMONDO:MONDO:0008764,MedGen:C2931258,OMIM:204000, Orphanet:65; MONDO:MONDO:0011143,MedGen:C1866293,OMIM:601777, Orphanet:18721779107497910749GA7910749-
NM_000180.4(GUCY2D):c.1479C>T (p.His493=)3000GUCY2DLikely benign-1RCV002176766; NMONDO:MONDO:0011143,MedGen:C1866293,OMIM:601777, Orphanet:1872; MONDO:MONDO:0008764,MedGen:C2931258,OMIM:204000, Orphanet:651779107597910759CT7910759-
NM_000180.4(GUCY2D):c.1482G>A (p.Met494Ile)3000GUCY2DUncertain significance-1RCV002039358; NMONDO:MONDO:0008764,MedGen:C2931258,OMIM:204000, Orphanet:65; MONDO:MONDO:0011143,MedGen:C1866293,OMIM:601777, Orphanet:18721779107627910762GA7910762-
NM_000180.4(GUCY2D):c.1489G>A (p.Val497Ile)3000GUCY2DUncertain significance-1RCV001360105; NMONDO:MONDO:0008764,MedGen:C2931258,OMIM:204000, Orphanet:65; MONDO:MONDO:0011143,MedGen:C1866293,OMIM:601777, Orphanet:18721779107697910769GA7910769-
NM_000180.4(GUCY2D):c.1489G>T (p.Val497Phe)3000GUCY2DUncertain significance-1RCV001898213; NMONDO:MONDO:0008764,MedGen:C2931258,OMIM:204000, Orphanet:65; MONDO:MONDO:0011143,MedGen:C1866293,OMIM:601777, Orphanet:18721779107697910769GT7910769-
NM_000180.4(GUCY2D):c.1494C>T (p.Ser498=)3000GUCY2DLikely benign-1RCV001435605; NMONDO:MONDO:0011143,MedGen:C1866293,OMIM:601777, Orphanet:1872; MONDO:MONDO:0008764,MedGen:C2931258,OMIM:204000, Orphanet:651779107747910774CT7910774-
NM_000180.4(GUCY2D):c.1495G>C (p.Gly499Arg)3000GUCY2DUncertain significancers751263915RCV001316215; NMONDO:MONDO:0008764,MedGen:C2931258,OMIM:204000, Orphanet:65; MONDO:MONDO:0011143,MedGen:C1866293,OMIM:601777, Orphanet:18721779107757910775GC7910775-
NM_000180.4(GUCY2D):c.1499C>T (p.Pro500Leu)3000GUCY2DUncertain significancers200211315RCV000179270|RCV001051919; NMedGen:CN517202|MONDO:MONDO:0008764,MedGen:C2931258,OMIM:204000, Orphanet:65; MONDO:MONDO:0011143,MedGen:C1866293,OMIM:601777, Orphanet:18721779107797910779CT17:g.7910779C>TClinGen:CA246543CN169374 not specified;
NM_000180.4(GUCY2D):c.1501A>G (p.Asn501Asp)3000GUCY2DUncertain significancers1975767998RCV001320629; NMONDO:MONDO:0011143,MedGen:C1866293,OMIM:601777, Orphanet:1872; MONDO:MONDO:0008764,MedGen:C2931258,OMIM:204000, Orphanet:651779107817910781AG7910781-
NM_000180.4(GUCY2D):c.1513C>T (p.Leu505=)3000GUCY2DConflicting interpretations of pathogenicityrs146849545RCV000179271|RCV001081206; NMedGen:CN517202|MONDO:MONDO:0008764,MedGen:C2931258,OMIM:204000, Orphanet:65; MONDO:MONDO:0011143,MedGen:C1866293,OMIM:601777, Orphanet:18721779107937910793CT17:g.7910793C>TClinGen:CA246545CN169374 not specified;
NM_000180.4(GUCY2D):c.1518C>T (p.Thr506=)3000GUCY2DLikely benign-1RCV001452446|RCV001796501; NMONDO:MONDO:0011143,MedGen:C1866293,OMIM:601777, Orphanet:1872; MONDO:MONDO:0008764,MedGen:C2931258,OMIM:204000, Orphanet:65|MedGen:CN5172021779107987910798CT7910798-
NM_000180.4(GUCY2D):c.1519G>A (p.Val507Met)3000GUCY2DUncertain significancers746002871RCV001213710; NMONDO:MONDO:0011143,MedGen:C1866293,OMIM:601777, Orphanet:1872; MONDO:MONDO:0008764,MedGen:C2931258,OMIM:204000, Orphanet:651779107997910799GA17:g.7910799G>A-
NM_000180.4(GUCY2D):c.1522GAC[1] (p.Asp509del)3000GUCY2DUncertain significance-1RCV001880925; NMONDO:MONDO:0008764,MedGen:C2931258,OMIM:204000, Orphanet:65; MONDO:MONDO:0011143,MedGen:C1866293,OMIM:601777, Orphanet:18721779108027910804GGACG7910801-
NM_000180.4(GUCY2D):c.1524C>T (p.Asp508=)3000GUCY2DLikely benign-1RCV001457828; NMONDO:MONDO:0011143,MedGen:C1866293,OMIM:601777, Orphanet:1872; MONDO:MONDO:0008764,MedGen:C2931258,OMIM:204000, Orphanet:651779108047910804CT7910804-
NM_000180.4(GUCY2D):c.1536T>C (p.Phe512=)3000GUCY2DLikely benign-1RCV001439462; NMONDO:MONDO:0011143,MedGen:C1866293,OMIM:601777, Orphanet:1872; MONDO:MONDO:0008764,MedGen:C2931258,OMIM:204000, Orphanet:651779108167910816TC7910816-
NM_000180.4(GUCY2D):c.1537C>T (p.Leu513Phe)3000GUCY2DConflicting interpretations of pathogenicityrs61749682RCV000084834|RCV000356487|RCV001084922; NMedGen:CN517202|MedGen:CN169374|MONDO:MONDO:0011143,MedGen:C1866293,OMIM:601777, Orphanet:1872; MONDO:MONDO:0008764,MedGen:C2931258,OMIM:204000, Orphanet:651779108177910817CT17:g.7910817C>TClinGen:CA226047CN517202 not provided;
NM_000180.4(GUCY2D):c.1544C>T (p.Pro515Leu)3000GUCY2DUncertain significancers1975769511RCV001247689; NMONDO:MONDO:0011143,MedGen:C1866293,OMIM:601777, Orphanet:1872; MONDO:MONDO:0008764,MedGen:C2931258,OMIM:204000, Orphanet:651779108247910824CT17:g.7910824C>T-
NM_000180.4(GUCY2D):c.1547A>G (p.His516Arg)3000GUCY2DUncertain significance-1RCV001922185; NMONDO:MONDO:0008764,MedGen:C2931258,OMIM:204000, Orphanet:65; MONDO:MONDO:0011143,MedGen:C1866293,OMIM:601777, Orphanet:18721779108277910827AG7910827-
NM_000180.4(GUCY2D):c.1552G>A (p.Gly518Ser)3000GUCY2DUncertain significance-1RCV001876809; NMONDO:MONDO:0008764,MedGen:C2931258,OMIM:204000, Orphanet:65; MONDO:MONDO:0011143,MedGen:C1866293,OMIM:601777, Orphanet:18721779108327910832GA7910832-
NM_000180.4(GUCY2D):c.1555A>C (p.Thr519Pro)3000GUCY2DUncertain significance-1RCV001371999; NMONDO:MONDO:0011143,MedGen:C1866293,OMIM:601777, Orphanet:1872; MONDO:MONDO:0008764,MedGen:C2931258,OMIM:204000, Orphanet:651779108357910835AC7910835-
NM_000180.4(GUCY2D):c.1556C>T (p.Thr519Ile)3000GUCY2DUncertain significancers549834851RCV001229951; NMONDO:MONDO:0011143,MedGen:C1866293,OMIM:601777, Orphanet:1872; MONDO:MONDO:0008764,MedGen:C2931258,OMIM:204000, Orphanet:651779108367910836CT17:g.7910836C>T-
NM_000180.4(GUCY2D):c.1557C>T (p.Thr519=)3000GUCY2DLikely benign-1RCV001422245; NMONDO:MONDO:0011143,MedGen:C1866293,OMIM:601777, Orphanet:1872; MONDO:MONDO:0008764,MedGen:C2931258,OMIM:204000, Orphanet:651779108377910837CT7910837-
NM_000180.4(GUCY2D):c.1561C>T (p.Arg521Ter)3000GUCY2DPathogenicrs748798324RCV000791169|RCV000791170|RCV000791168; NMONDO:MONDO:0011143,MedGen:C1866293,OMIM:601777, Orphanet:1872|MONDO:MONDO:0024539,MedGen:C4551884,OMIM:215500, Orphanet:75377|MONDO:MONDO:0008764,MedGen:C2931258,OMIM:204000, Orphanet:651779108417910841CT17:g.7910841C>T-
NM_000180.4(GUCY2D):c.1562G>A (p.Arg521Gln)3000GUCY2DUncertain significance-1RCV001891623; NMONDO:MONDO:0008764,MedGen:C2931258,OMIM:204000, Orphanet:65; MONDO:MONDO:0011143,MedGen:C1866293,OMIM:601777, Orphanet:18721779108427910842GA7910842-
NM_000180.4(GUCY2D):c.1564A>G (p.Lys522Glu)3000GUCY2DUncertain significance-1RCV001986855; NMONDO:MONDO:0008764,MedGen:C2931258,OMIM:204000, Orphanet:65; MONDO:MONDO:0011143,MedGen:C1866293,OMIM:601777, Orphanet:18721779108447910844AG7910844-
NM_000180.4(GUCY2D):c.1566+3G>T3000GUCY2DUncertain significancers752607737RCV000513270|RCV001198545|RCV001299148; NMedGen:CN517202|MONDO:MONDO:0024539,MedGen:C4551884,OMIM:215500, Orphanet:75377|MONDO:MONDO:0008764,MedGen:C2931258,OMIM:204000, Orphanet:65; MONDO:MONDO:0011143,MedGen:C1866293,OMIM:601777, Orphanet:18721779108497910849GT17:g.7910849G>TClinGen:CA8365793CN517202 not provided;
NM_000180.4(GUCY2D):c.1566+4G>A3000GUCY2DUncertain significancers1191933070RCV001053305; NMONDO:MONDO:0008764,MedGen:C2931258,OMIM:204000, Orphanet:65; MONDO:MONDO:0011143,MedGen:C1866293,OMIM:601777, Orphanet:18721779108507910850GA17:g.7910850G>A-
NM_000180.4(GUCY2D):c.1566+17G>A3000GUCY2DBenign-1RCV001510203; NMONDO:MONDO:0008764,MedGen:C2931258,OMIM:204000, Orphanet:65; MONDO:MONDO:0011143,MedGen:C1866293,OMIM:601777, Orphanet:18721779108637910863GA7910863-
NM_000180.4(GUCY2D):c.1573C>T (p.Gln525Ter)3000GUCY2DPathogenicrs1168076308RCV001068217; NMONDO:MONDO:0011143,MedGen:C1866293,OMIM:601777, Orphanet:1872; MONDO:MONDO:0008764,MedGen:C2931258,OMIM:204000, Orphanet:651779112557911255CT17:g.7911255C>T-
NM_000180.4(GUCY2D):c.1573C>A (p.Gln525Lys)3000GUCY2DUncertain significance-1RCV001960361; NMONDO:MONDO:0011143,MedGen:C1866293,OMIM:601777, Orphanet:1872; MONDO:MONDO:0008764,MedGen:C2931258,OMIM:204000, Orphanet:651779112557911255CA7911255-
NM_000180.4(GUCY2D):c.1576G>A (p.Gly526Arg)3000GUCY2DUncertain significancers1975777337RCV001347399; NMONDO:MONDO:0011143,MedGen:C1866293,OMIM:601777, Orphanet:1872; MONDO:MONDO:0008764,MedGen:C2931258,OMIM:204000, Orphanet:651779112587911258GA7911258-
NM_000180.4(GUCY2D):c.1582C>T (p.Arg528Ter)3000GUCY2DPathogenicrs1349155167RCV001235694; NMONDO:MONDO:0011143,MedGen:C1866293,OMIM:601777, Orphanet:1872; MONDO:MONDO:0008764,MedGen:C2931258,OMIM:204000, Orphanet:651779112647911264CT17:g.7911264C>T-
NM_000180.4(GUCY2D):c.1584A>G (p.Arg528=)3000GUCY2DLikely benign-1RCV001409945; NMONDO:MONDO:0011143,MedGen:C1866293,OMIM:601777, Orphanet:1872; MONDO:MONDO:0008764,MedGen:C2931258,OMIM:204000, Orphanet:651779112667911266AG7911266-
NM_000180.4(GUCY2D):c.1608G>A (p.Met536Ile)3000GUCY2DUncertain significancers759173115RCV001351399; NMONDO:MONDO:0011143,MedGen:C1866293,OMIM:601777, Orphanet:1872; MONDO:MONDO:0008764,MedGen:C2931258,OMIM:204000, Orphanet:651779112907911290GA7911290-
NM_000180.4(GUCY2D):c.1618C>T (p.Arg540Cys)3000GUCY2DUncertain significancers61749754RCV000084838|RCV001854485; NMedGen:CN517202|MONDO:MONDO:0008764,MedGen:C2931258,OMIM:204000, Orphanet:65; MONDO:MONDO:0011143,MedGen:C1866293,OMIM:601777, Orphanet:18721779113007911300CT17:g.7911300C>TClinGen:CA226052CN517202 not provided;
NM_000180.4(GUCY2D):c.1619G>T (p.Arg540Leu)3000GUCY2DUncertain significance-1RCV001365537; NMONDO:MONDO:0011143,MedGen:C1866293,OMIM:601777, Orphanet:1872; MONDO:MONDO:0008764,MedGen:C2931258,OMIM:204000, Orphanet:651779113017911301GT7911301-
NM_000180.4(GUCY2D):c.1619G>A (p.Arg540His)3000GUCY2DUncertain significance-1RCV002014222; NMONDO:MONDO:0008764,MedGen:C2931258,OMIM:204000, Orphanet:65; MONDO:MONDO:0011143,MedGen:C1866293,OMIM:601777, Orphanet:18721779113017911301GA7911301-
NM_000180.4(GUCY2D):c.1624G>A (p.Gly542Ser)3000GUCY2DUncertain significancers146570135RCV001242493; NMONDO:MONDO:0011143,MedGen:C1866293,OMIM:601777, Orphanet:1872; MONDO:MONDO:0008764,MedGen:C2931258,OMIM:204000, Orphanet:651779113067911306GA17:g.7911306G>A-
NM_000180.4(GUCY2D):c.1645A>G (p.Ser549Gly)3000GUCY2DUncertain significance-1RCV001932192; NMONDO:MONDO:0011143,MedGen:C1866293,OMIM:601777, Orphanet:1872; MONDO:MONDO:0008764,MedGen:C2931258,OMIM:204000, Orphanet:651779113277911327AG7911327-
NM_000180.4(GUCY2D):c.1659T>G (p.Gly553=)3000GUCY2DBenign-1RCV001517139; NMONDO:MONDO:0011143,MedGen:C1866293,OMIM:601777, Orphanet:1872; MONDO:MONDO:0008764,MedGen:C2931258,OMIM:204000, Orphanet:651779113417911341TG7911341-
NM_000180.4(GUCY2D):c.1660G>A (p.Val554Ile)3000GUCY2DUncertain significancers1975779836RCV001060452; NMONDO:MONDO:0011143,MedGen:C1866293,OMIM:601777, Orphanet:1872; MONDO:MONDO:0008764,MedGen:C2931258,OMIM:204000, Orphanet:651779113427911342GA17:g.7911342G>A-
NM_000180.4(GUCY2D):c.1669-14C>G3000GUCY2DLikely benign-1RCV001398710; NMONDO:MONDO:0011143,MedGen:C1866293,OMIM:601777, Orphanet:1872; MONDO:MONDO:0008764,MedGen:C2931258,OMIM:204000, Orphanet:651779128107912810CG7912810-
NM_000180.4(GUCY2D):c.1669-9_1669-8del3000GUCY2DLikely benign-1RCV001444864; NMONDO:MONDO:0011143,MedGen:C1866293,OMIM:601777, Orphanet:1872; MONDO:MONDO:0008764,MedGen:C2931258,OMIM:204000, Orphanet:651779128147912815CTTC7912813-
NM_000180.4(GUCY2D):c.1672G>A (p.Asp558Asn)3000GUCY2DUncertain significancers188568530RCV000989738|RCV001003038|RCV001070091; NMONDO:MONDO:0011143,MedGen:C1866293,OMIM:601777, Orphanet:1872|MONDO:MONDO:0018998,MeSH:D057130,MedGen:C0339527,OMIM:PS204000, Orphanet:65|MONDO:MONDO:0011143,MedGen:C1866293,OMIM:601777, Orphanet:1872; MONDO:MONDO:0008764,MedGen:C2931258,OMIM:204000,Orphan1779128277912827GA17:g.7912827G>A-
NM_000180.4(GUCY2D):c.1707G>T (p.Gln569His)3000GUCY2DUncertain significancers568220391RCV001298771; NMONDO:MONDO:0011143,MedGen:C1866293,OMIM:601777, Orphanet:1872; MONDO:MONDO:0008764,MedGen:C2931258,OMIM:204000, Orphanet:651779128627912862GT7912862-
NM_000180.4(GUCY2D):c.1717A>G (p.Ile573Val)3000GUCY2DUncertain significancers61749756RCV000084840|RCV001047568; NMedGen:CN517202|MONDO:MONDO:0011143,MedGen:C1866293,OMIM:601777, Orphanet:1872; MONDO:MONDO:0008764,MedGen:C2931258,OMIM:204000, Orphanet:651779128727912872AG17:g.7912872A>GClinGen:CA226055,UniProtKB:Q02846#VAR_009130CN517202 not provided;
NM_000180.4(GUCY2D):c.1719C>A (p.Ile573=)3000GUCY2DLikely benign-1RCV002162000; NMONDO:MONDO:0011143,MedGen:C1866293,OMIM:601777, Orphanet:1872; MONDO:MONDO:0008764,MedGen:C2931258,OMIM:204000, Orphanet:651779128747912874CA7912874-
NM_000180.4(GUCY2D):c.1720C>T (p.Arg574Cys)3000GUCY2DUncertain significancers137853897RCV000086930|RCV001306268; NMedGen:CN517202|MONDO:MONDO:0008764,MedGen:C2931258,OMIM:204000, Orphanet:65; MONDO:MONDO:0011143,MedGen:C1866293,OMIM:601777, Orphanet:18721779128757912875CT17:g.7912875C>TClinGen:CA228867CN517202 not provided;
NM_000180.4(GUCY2D):c.1721G>A (p.Arg574His)3000GUCY2DUncertain significancers560270873RCV000585088|RCV001314273; NMedGen:CN517202|MONDO:MONDO:0008764,MedGen:C2931258,OMIM:204000, Orphanet:65; MONDO:MONDO:0011143,MedGen:C1866293,OMIM:601777, Orphanet:18721779128767912876GA17:g.7912876G>AClinGen:CA8365861CN517202 not provided;
NM_000180.4(GUCY2D):c.1724C>T (p.Pro575Leu)3000GUCY2DBenignrs28743021RCV000084841|RCV000180103|RCV001086101; NMedGen:CN517202|MedGen:CN169374|MONDO:MONDO:0011143,MedGen:C1866293,OMIM:601777, Orphanet:1872; MONDO:MONDO:0008764,MedGen:C2931258,OMIM:204000, Orphanet:651779128797912879CT17:g.7912879C>TClinGen:CA203556CN517202 not provided;
NM_000180.4(GUCY2D):c.1737G>A (p.Thr579=)3000GUCY2DLikely benign-1RCV002125665; NMONDO:MONDO:0011143,MedGen:C1866293,OMIM:601777, Orphanet:1872; MONDO:MONDO:0008764,MedGen:C2931258,OMIM:204000, Orphanet:651779128927912892GA7912892-
NM_000180.4(GUCY2D):c.1749+1G>A3000GUCY2DLikely pathogenic-1RCV001377390; NMONDO:MONDO:0011143,MedGen:C1866293,OMIM:601777, Orphanet:1872; MONDO:MONDO:0008764,MedGen:C2931258,OMIM:204000, Orphanet:651779129057912905GA7912905-
NM_000180.4(GUCY2D):c.1749+11G>A3000GUCY2DLikely benign-1RCV002130223; NMONDO:MONDO:0011143,MedGen:C1866293,OMIM:601777, Orphanet:1872; MONDO:MONDO:0008764,MedGen:C2931258,OMIM:204000, Orphanet:651779129157912915GA7912915-
NM_000180.4(GUCY2D):c.1749+14C>T3000GUCY2DLikely benign-1RCV002073889; NMONDO:MONDO:0008764,MedGen:C2931258,OMIM:204000, Orphanet:65; MONDO:MONDO:0011143,MedGen:C1866293,OMIM:601777, Orphanet:18721779129187912918CT7912918-
NM_000180.4(GUCY2D):c.1750-16A>G3000GUCY2DLikely benign-1RCV002151871; NMONDO:MONDO:0011143,MedGen:C1866293,OMIM:601777, Orphanet:1872; MONDO:MONDO:0008764,MedGen:C2931258,OMIM:204000, Orphanet:651779154467915446AG7915446-
NM_000180.4(GUCY2D):c.1750-15C>T3000GUCY2DLikely benign-1RCV002108090; NMONDO:MONDO:0008764,MedGen:C2931258,OMIM:204000, Orphanet:65; MONDO:MONDO:0011143,MedGen:C1866293,OMIM:601777, Orphanet:18721779154477915447CT7915447-
NM_000180.4(GUCY2D):c.1750-8C>G3000GUCY2DLikely benign-1RCV001450660; NMONDO:MONDO:0011143,MedGen:C1866293,OMIM:601777, Orphanet:1872; MONDO:MONDO:0008764,MedGen:C2931258,OMIM:204000, Orphanet:651779154547915454CG7915454-
NM_000180.4(GUCY2D):c.1750-7C>G3000GUCY2DLikely benignrs918147589RCV000884622|RCV001486153; NMedGen:CN517202|MONDO:MONDO:0011143,MedGen:C1866293,OMIM:601777, Orphanet:1872; MONDO:MONDO:0008764,MedGen:C2931258,OMIM:204000, Orphanet:651779154557915455CG17:g.7915455C>G-
NM_000180.4(GUCY2D):c.1750-5C>T3000GUCY2DLikely benign-1RCV002189504; NMONDO:MONDO:0008764,MedGen:C2931258,OMIM:204000, Orphanet:65; MONDO:MONDO:0011143,MedGen:C1866293,OMIM:601777, Orphanet:18721779154577915457CT7915457-
NM_000180.4(GUCY2D):c.1758G>T (p.Glu586Asp)3000GUCY2DUncertain significancers765906787RCV001297585; NMONDO:MONDO:0011143,MedGen:C1866293,OMIM:601777, Orphanet:1872; MONDO:MONDO:0008764,MedGen:C2931258,OMIM:204000, Orphanet:651779154707915470GT7915470-
NM_000180.4(GUCY2D):c.1763G>A (p.Arg588Gln)3000GUCY2DUncertain significancers1380583409RCV001230443; NMONDO:MONDO:0011143,MedGen:C1866293,OMIM:601777, Orphanet:1872; MONDO:MONDO:0008764,MedGen:C2931258,OMIM:204000, Orphanet:651779154757915475GA17:g.7915475G>A-
NM_000180.4(GUCY2D):c.1766A>G (p.His589Arg)3000GUCY2DUncertain significance-1RCV001363907; NMONDO:MONDO:0011143,MedGen:C1866293,OMIM:601777, Orphanet:1872; MONDO:MONDO:0008764,MedGen:C2931258,OMIM:204000, Orphanet:651779154787915478AG7915478-
NM_000180.4(GUCY2D):c.1773del (p.Asn591fs)3000GUCY2DPathogenicrs794727952RCV000180468|RCV001526721|RCV001852248; NMedGen:CN517202|MONDO:MONDO:0008764,MedGen:C2931258,OMIM:204000, Orphanet:65|MONDO:MONDO:0008764,MedGen:C2931258,OMIM:204000, Orphanet:65; MONDO:MONDO:0011143,MedGen:C1866293,OMIM:601777, Orphanet:18721779154857915485ACA17:g.7915485_7915485delClinGen:CA251244C1866293 601777 Cone-rod dystrophy 6;
NM_000180.4(GUCY2D):c.1773C>T (p.Asn591=)3000GUCY2DLikely benignrs758841128RCV000949209; NMONDO:MONDO:0011143,MedGen:C1866293,OMIM:601777, Orphanet:1872; MONDO:MONDO:0008764,MedGen:C2931258,OMIM:204000, Orphanet:651779154857915485CT17:g.7915485C>T-
NM_000180.4(GUCY2D):c.1774G>A (p.Val592Met)3000GUCY2DUncertain significance-1RCV001365552; NMONDO:MONDO:0011143,MedGen:C1866293,OMIM:601777, Orphanet:1872; MONDO:MONDO:0008764,MedGen:C2931258,OMIM:204000, Orphanet:651779154867915486GA7915486-
NM_000180.4(GUCY2D):c.1776G>C (p.Val592=)3000GUCY2DLikely benignrs376508683RCV000950344; NMONDO:MONDO:0011143,MedGen:C1866293,OMIM:601777, Orphanet:1872; MONDO:MONDO:0008764,MedGen:C2931258,OMIM:204000, Orphanet:651779154887915488GC17:g.7915488G>C-
NM_000180.4(GUCY2D):c.1804C>T (p.Arg602Trp)3000GUCY2DUncertain significancers770740012RCV001303191; NMONDO:MONDO:0008764,MedGen:C2931258,OMIM:204000, Orphanet:65; MONDO:MONDO:0011143,MedGen:C1866293,OMIM:601777, Orphanet:18721779155167915516CT7915516-
NM_000180.4(GUCY2D):c.1805G>A (p.Arg602Gln)3000GUCY2DUncertain significance-1RCV001936565; NMONDO:MONDO:0011143,MedGen:C1866293,OMIM:601777, Orphanet:1872; MONDO:MONDO:0008764,MedGen:C2931258,OMIM:204000, Orphanet:651779155177915517GA7915517-
NM_000180.4(GUCY2D):c.1817G>A (p.Gly606Asp)3000GUCY2DUncertain significancers1451847992RCV001064042; NMONDO:MONDO:0011143,MedGen:C1866293,OMIM:601777, Orphanet:1872; MONDO:MONDO:0008764,MedGen:C2931258,OMIM:204000, Orphanet:651779155297915529GA17:g.7915529G>A-
NM_000180.4(GUCY2D):c.1824G>A (p.Ala608=)3000GUCY2DLikely benign-1RCV002142111; NMONDO:MONDO:0008764,MedGen:C2931258,OMIM:204000, Orphanet:65; MONDO:MONDO:0011143,MedGen:C1866293,OMIM:601777, Orphanet:18721779155367915536GA7915536-
NM_000180.4(GUCY2D):c.1825G>A (p.Ala609Thr)3000GUCY2DUncertain significancers1009884304RCV001240211; NMONDO:MONDO:0008764,MedGen:C2931258,OMIM:204000, Orphanet:65; MONDO:MONDO:0011143,MedGen:C1866293,OMIM:601777, Orphanet:18721779155377915537GA17:g.7915537G>A-
NM_000180.4(GUCY2D):c.1828C>A (p.Leu610Ile)3000GUCY2DUncertain significancers779224998RCV001322331; NMONDO:MONDO:0011143,MedGen:C1866293,OMIM:601777, Orphanet:1872; MONDO:MONDO:0008764,MedGen:C2931258,OMIM:204000, Orphanet:651779155407915540CA7915540-
NM_000180.4(GUCY2D):c.1836G>A (p.Glu612=)3000GUCY2DUncertain significance-1RCV001970597; NMONDO:MONDO:0011143,MedGen:C1866293,OMIM:601777, Orphanet:1872; MONDO:MONDO:0008764,MedGen:C2931258,OMIM:204000, Orphanet:651779155487915548GA7915548-
NM_000180.4(GUCY2D):c.1838G>T (p.Gly613Val)3000GUCY2DUncertain significance-1RCV001973368; NMONDO:MONDO:0011143,MedGen:C1866293,OMIM:601777, Orphanet:1872; MONDO:MONDO:0008764,MedGen:C2931258,OMIM:204000, Orphanet:651779155507915550GT7915550-
NM_000180.4(GUCY2D):c.1841A>G (p.Asn614Ser)3000GUCY2DUncertain significancers1975865453RCV001207903; NMONDO:MONDO:0011143,MedGen:C1866293,OMIM:601777, Orphanet:1872; MONDO:MONDO:0008764,MedGen:C2931258,OMIM:204000, Orphanet:651779155537915553AG17:g.7915553A>G-
NM_000180.4(GUCY2D):c.1841A>C (p.Asn614Thr)3000GUCY2DUncertain significance-1RCV001917254; NMONDO:MONDO:0008764,MedGen:C2931258,OMIM:204000, Orphanet:65; MONDO:MONDO:0011143,MedGen:C1866293,OMIM:601777, Orphanet:18721779155537915553AC7915553-
NM_000180.4(GUCY2D):c.1851G>A (p.Val617=)3000GUCY2DConflicting interpretations of pathogenicityrs754581545RCV000598011|RCV001463356; NMedGen:CN517202|MONDO:MONDO:0008764,MedGen:C2931258,OMIM:204000, Orphanet:65; MONDO:MONDO:0011143,MedGen:C1866293,OMIM:601777, Orphanet:18721779155637915563GA17:g.7915563G>AClinGen:CA8365916CN169374 not specified;
NM_000180.4(GUCY2D):c.1852G>A (p.Val618Ile)3000GUCY2DUncertain significancers767258249RCV001301472; NMONDO:MONDO:0008764,MedGen:C2931258,OMIM:204000, Orphanet:65; MONDO:MONDO:0011143,MedGen:C1866293,OMIM:601777, Orphanet:18721779155647915564GA7915564-
NM_000180.4(GUCY2D):c.1854C>T (p.Val618=)3000GUCY2DLikely benign-1RCV002132708; NMONDO:MONDO:0008764,MedGen:C2931258,OMIM:204000, Orphanet:65; MONDO:MONDO:0011143,MedGen:C1866293,OMIM:601777, Orphanet:18721779155667915566CT7915566-
NM_000180.4(GUCY2D):c.1868C>T (p.Thr623Met)3000GUCY2DUncertain significance-1RCV001364959; NMONDO:MONDO:0011143,MedGen:C1866293,OMIM:601777, Orphanet:1872; MONDO:MONDO:0008764,MedGen:C2931258,OMIM:204000, Orphanet:651779155807915580CT7915580-
NM_000180.4(GUCY2D):c.1869G>A (p.Thr623=)3000GUCY2DLikely benign-1RCV001400620; NMONDO:MONDO:0011143,MedGen:C1866293,OMIM:601777, Orphanet:1872; MONDO:MONDO:0008764,MedGen:C2931258,OMIM:204000, Orphanet:651779155817915581GA7915581-
NM_000180.4(GUCY2D):c.1870C>T (p.Arg624Trp)3000GUCY2DUncertain significancers757230483RCV001070563; NMONDO:MONDO:0011143,MedGen:C1866293,OMIM:601777, Orphanet:1872; MONDO:MONDO:0008764,MedGen:C2931258,OMIM:204000, Orphanet:651779155827915582CT17:g.7915582C>T-
NM_000180.4(GUCY2D):c.1871G>A (p.Arg624Gln)3000GUCY2DUncertain significancers746020263RCV001230117; NMONDO:MONDO:0011143,MedGen:C1866293,OMIM:601777, Orphanet:1872; MONDO:MONDO:0008764,MedGen:C2931258,OMIM:204000, Orphanet:651779155837915583GA17:g.7915583G>A-
NM_000180.4(GUCY2D):c.1887C>A (p.Asp629Glu)3000GUCY2DUncertain significancers770016889RCV001295013; NMONDO:MONDO:0011143,MedGen:C1866293,OMIM:601777, Orphanet:1872; MONDO:MONDO:0008764,MedGen:C2931258,OMIM:204000, Orphanet:651779155997915599CA7915599-
NM_000180.4(GUCY2D):c.1893C>T (p.Leu631=)3000GUCY2DLikely benign-1RCV002155490; NMONDO:MONDO:0008764,MedGen:C2931258,OMIM:204000, Orphanet:65; MONDO:MONDO:0011143,MedGen:C1866293,OMIM:601777, Orphanet:18721779156057915605CT7915605-
NM_000180.4(GUCY2D):c.1901G>C (p.Arg634Thr)3000GUCY2DUncertain significancers759957436RCV001295348; NMONDO:MONDO:0011143,MedGen:C1866293,OMIM:601777, Orphanet:1872; MONDO:MONDO:0008764,MedGen:C2931258,OMIM:204000, Orphanet:651779156137915613GC7915613-
NM_000180.4(GUCY2D):c.1904A>G (p.Glu635Gly)3000GUCY2DUncertain significancers1975867670RCV001212854; NMONDO:MONDO:0011143,MedGen:C1866293,OMIM:601777, Orphanet:1872; MONDO:MONDO:0008764,MedGen:C2931258,OMIM:204000, Orphanet:651779156167915616AG17:g.7915616A>G-
NM_000180.4(GUCY2D):c.1938C>T (p.Leu646=)3000GUCY2DLikely benignrs201196538RCV000951485|RCV001727825|RCV001701372; NMONDO:MONDO:0008764,MedGen:C2931258,OMIM:204000, Orphanet:65; MONDO:MONDO:0011143,MedGen:C1866293,OMIM:601777, Orphanet:1872|MedGen:CN517202|MedGen:CN1693741779156507915650CT17:g.7915650C>T-
NM_000180.4(GUCY2D):c.1956+9C>T3000GUCY2DLikely benign-1RCV002079383; NMONDO:MONDO:0011143,MedGen:C1866293,OMIM:601777, Orphanet:1872; MONDO:MONDO:0008764,MedGen:C2931258,OMIM:204000, Orphanet:651779156777915677CT7915677-
NM_000180.4(GUCY2D):c.1956+15G>A3000GUCY2DLikely benign-1RCV001408510; NMONDO:MONDO:0011143,MedGen:C1866293,OMIM:601777, Orphanet:1872; MONDO:MONDO:0008764,MedGen:C2931258,OMIM:204000, Orphanet:651779156837915683GA7915683-
NM_000180.4(GUCY2D):c.1957-2A>G3000GUCY2DPathogenic/Likely pathogenicrs945734402RCV000989739|RCV001051980|RCV001593166; NMONDO:MONDO:0011143,MedGen:C1866293,OMIM:601777, Orphanet:1872|MONDO:MONDO:0011143,MedGen:C1866293,OMIM:601777, Orphanet:1872; MONDO:MONDO:0008764,MedGen:C2931258,OMIM:204000, Orphanet:65|MONDO:MONDO:0008764,MedGen:C2931258,OMIM:204000, Orphanet:651779157667915766AG17:g.7915766A>G-
NM_000180.4(GUCY2D):c.1958G>A (p.Gly653Glu)3000GUCY2DUncertain significance-1RCV001889489; NMONDO:MONDO:0011143,MedGen:C1866293,OMIM:601777, Orphanet:1872; MONDO:MONDO:0008764,MedGen:C2931258,OMIM:204000, Orphanet:651779157697915769GA7915769-
NM_000180.4(GUCY2D):c.1972C>T (p.His658Tyr)3000GUCY2DLikely pathogenicrs1598149154RCV000989740; NMONDO:MONDO:0011143,MedGen:C1866293,OMIM:601777, Orphanet:18721779157837915783CT17:g.7915783C>T-
NM_000180.4(GUCY2D):c.1978C>T (p.Arg660Ter)3000GUCY2DPathogenicrs61750161RCV000084847|RCV001047937|RCV001250870; NMedGen:CN517202|MONDO:MONDO:0011143,MedGen:C1866293,OMIM:601777, Orphanet:1872; MONDO:MONDO:0008764,MedGen:C2931258,OMIM:204000, Orphanet:65|MONDO:MONDO:0008764,MedGen:C2931258,OMIM:204000, Orphanet:651779157897915789CT17:g.7915789C>TClinGen:CA226062,ClinVar:982543,ClinVar:982548CN517202 not provided;
NM_000180.4(GUCY2D):c.1978C>G (p.Arg660Gly)3000GUCY2DUncertain significance-1RCV001903631; NMONDO:MONDO:0011143,MedGen:C1866293,OMIM:601777, Orphanet:1872; MONDO:MONDO:0008764,MedGen:C2931258,OMIM:204000, Orphanet:651779157897915789CG7915789-
NM_000180.4(GUCY2D):c.1979G>A (p.Arg660Gln)3000GUCY2DUncertain significancers61750162RCV000084848|RCV001047346; NMedGen:CN517202|MONDO:MONDO:0011143,MedGen:C1866293,OMIM:601777, Orphanet:1872; MONDO:MONDO:0008764,MedGen:C2931258,OMIM:204000, Orphanet:651779157907915790GA17:g.7915790G>AClinGen:CA226064,UniProtKB:Q02846#VAR_067176CN517202 not provided;
NM_000180.4(GUCY2D):c.1983C>T (p.Gly661=)3000GUCY2DUncertain significancers756393266RCV001294410; NMONDO:MONDO:0011143,MedGen:C1866293,OMIM:601777, Orphanet:1872; MONDO:MONDO:0008764,MedGen:C2931258,OMIM:204000, Orphanet:651779157947915794CT7915794-
NM_000180.4(GUCY2D):c.1984G>A (p.Val662Met)3000GUCY2DUncertain significancers143585840RCV001040770; NMONDO:MONDO:0011143,MedGen:C1866293,OMIM:601777, Orphanet:1872; MONDO:MONDO:0008764,MedGen:C2931258,OMIM:204000, Orphanet:651779157957915795GA17:g.7915795G>A-
NM_000180.4(GUCY2D):c.1987G>A (p.Ala663Thr)3000GUCY2DUncertain significance-1RCV002008899; NMONDO:MONDO:0011143,MedGen:C1866293,OMIM:601777, Orphanet:1872; MONDO:MONDO:0008764,MedGen:C2931258,OMIM:204000, Orphanet:651779157987915798GA7915798-
NM_000180.4(GUCY2D):c.1996C>T (p.Arg666Trp)3000GUCY2DUncertain significancers757387072RCV001067287|RCV001760043; NMONDO:MONDO:0011143,MedGen:C1866293,OMIM:601777, Orphanet:1872; MONDO:MONDO:0008764,MedGen:C2931258,OMIM:204000, Orphanet:65|MedGen:CN5172021779158077915807CT17:g.7915807C>T-
NM_000180.4(GUCY2D):c.1997G>A (p.Arg666Gln)3000GUCY2DUncertain significance-1RCV001370627; NMONDO:MONDO:0011143,MedGen:C1866293,OMIM:601777, Orphanet:1872; MONDO:MONDO:0008764,MedGen:C2931258,OMIM:204000, Orphanet:651779158087915808GA7915808-
NM_000180.4(GUCY2D):c.2009G>A (p.Arg670Gln)3000GUCY2DUncertain significance-1RCV001954039; NMONDO:MONDO:0011143,MedGen:C1866293,OMIM:601777, Orphanet:1872; MONDO:MONDO:0008764,MedGen:C2931258,OMIM:204000, Orphanet:651779158207915820GA7915820-
NM_000180.4(GUCY2D):c.2015G>A (p.Cys672Tyr)3000GUCY2DUncertain significancers1975873821RCV001342326; NMONDO:MONDO:0008764,MedGen:C2931258,OMIM:204000, Orphanet:65; MONDO:MONDO:0011143,MedGen:C1866293,OMIM:601777, Orphanet:18721779158267915826GA7915826-
NM_000180.4(GUCY2D):c.2031A>G (p.Arg677=)3000GUCY2DUncertain significancers200700723RCV001296727; NMONDO:MONDO:0011143,MedGen:C1866293,OMIM:601777, Orphanet:1872; MONDO:MONDO:0008764,MedGen:C2931258,OMIM:204000, Orphanet:651779158427915842AG7915842-
NM_000180.4(GUCY2D):c.2034C>T (p.Phe678=)3000GUCY2DConflicting interpretations of pathogenicityrs776298636RCV000596496|RCV001087201; NMedGen:CN517202|MONDO:MONDO:0008764,MedGen:C2931258,OMIM:204000, Orphanet:65; MONDO:MONDO:0011143,MedGen:C1866293,OMIM:601777, Orphanet:18721779158457915845CT17:g.7915845C>TClinGen:CA8365971CN169374 not specified;
NM_000180.4(GUCY2D):c.2046C>T (p.Ile682=)3000GUCY2DLikely benign-1RCV002111796; NMONDO:MONDO:0008764,MedGen:C2931258,OMIM:204000, Orphanet:65; MONDO:MONDO:0011143,MedGen:C1866293,OMIM:601777, Orphanet:18721779158577915857CT7915857-
NM_000180.4(GUCY2D):c.2052C>A (p.Asp684Glu)3000GUCY2DUncertain significance-1RCV001990328; NMONDO:MONDO:0011143,MedGen:C1866293,OMIM:601777, Orphanet:1872; MONDO:MONDO:0008764,MedGen:C2931258,OMIM:204000, Orphanet:651779158637915863CA7915863-
NM_000180.4(GUCY2D):c.2055C>T (p.His685=)3000GUCY2DLikely benign-1RCV001488055; NMONDO:MONDO:0008764,MedGen:C2931258,OMIM:204000, Orphanet:65; MONDO:MONDO:0011143,MedGen:C1866293,OMIM:601777, Orphanet:18721779158667915866CT7915866-
NM_000180.4(GUCY2D):c.2056G>A (p.Gly686Ser)3000GUCY2DUncertain significancers766482364RCV001304543; NMONDO:MONDO:0008764,MedGen:C2931258,OMIM:204000, Orphanet:65; MONDO:MONDO:0011143,MedGen:C1866293,OMIM:601777, Orphanet:18721779158677915867GA7915867-
NM_000180.4(GUCY2D):c.2059C>T (p.His687Tyr)3000GUCY2DUncertain significancers751340355RCV001297715; NMONDO:MONDO:0011143,MedGen:C1866293,OMIM:601777, Orphanet:1872; MONDO:MONDO:0008764,MedGen:C2931258,OMIM:204000, Orphanet:651779158707915870CT7915870-
NM_000180.4(GUCY2D):c.2061C>T (p.His687=)3000GUCY2DLikely benign-1RCV001419296; NMONDO:MONDO:0011143,MedGen:C1866293,OMIM:601777, Orphanet:1872; MONDO:MONDO:0008764,MedGen:C2931258,OMIM:204000, Orphanet:651779158727915872CT7915872-
NM_000180.4(GUCY2D):c.2062G>A (p.Gly688Arg)3000GUCY2DUncertain significance-1RCV001890328; NMONDO:MONDO:0008764,MedGen:C2931258,OMIM:204000, Orphanet:65; MONDO:MONDO:0011143,MedGen:C1866293,OMIM:601777, Orphanet:18721779158737915873GA7915873-
NM_000180.4(GUCY2D):c.2084A>G (p.Lys695Arg)3000GUCY2DUncertain significance-1RCV002012798; NMONDO:MONDO:0008764,MedGen:C2931258,OMIM:204000, Orphanet:65; MONDO:MONDO:0011143,MedGen:C1866293,OMIM:601777, Orphanet:18721779158957915895AG7915895-
NM_000180.4(GUCY2D):c.2093C>G (p.Pro698Arg)3000GUCY2DUncertain significancers200128473RCV001301851; NMONDO:MONDO:0008764,MedGen:C2931258,OMIM:204000, Orphanet:65; MONDO:MONDO:0011143,MedGen:C1866293,OMIM:601777, Orphanet:18721779159047915904CG7915904-
NM_000180.4(GUCY2D):c.2094G>A (p.Pro698=)3000GUCY2DLikely benign-1RCV001505873; NMONDO:MONDO:0011143,MedGen:C1866293,OMIM:601777, Orphanet:1872; MONDO:MONDO:0008764,MedGen:C2931258,OMIM:204000, Orphanet:651779159057915905GA7915905-
NM_000180.4(GUCY2D):c.2101C>T (p.Pro701Ser)3000GUCY2DBenign/Likely benignrs34598902RCV000084851|RCV000173653|RCV001250835|RCV001518412; NMedGen:CN517202|MedGen:CN169374|MONDO:MONDO:0008764,MedGen:C2931258,OMIM:204000, Orphanet:65|MONDO:MONDO:0008764,MedGen:C2931258,OMIM:204000, Orphanet:65; MONDO:MONDO:0011143,MedGen:C1866293,OMIM:601777, Orphanet:18721779159127915912CT17:g.7915912C>TClinGen:CA200657,UniProtKB:Q02846#VAR_009132CN517202 not provided;
NM_000180.4(GUCY2D):c.2107G>A (p.Ala703Thr)3000GUCY2DUncertain significance-1RCV001928869; NMONDO:MONDO:0011143,MedGen:C1866293,OMIM:601777, Orphanet:1872; MONDO:MONDO:0008764,MedGen:C2931258,OMIM:204000, Orphanet:651779159187915918GA7915918-
NM_000180.4(GUCY2D):c.2108C>T (p.Ala703Val)3000GUCY2DUncertain significancers577880164RCV001231431; NMONDO:MONDO:0008764,MedGen:C2931258,OMIM:204000, Orphanet:65; MONDO:MONDO:0011143,MedGen:C1866293,OMIM:601777, Orphanet:18721779159197915919CT17:g.7915919C>T-
NM_000180.4(GUCY2D):c.2109G>A (p.Ala703=)3000GUCY2DBenignrs56130505RCV000084852|RCV000245070|RCV001522238; NMedGen:CN517202|MedGen:CN169374|MONDO:MONDO:0011143,MedGen:C1866293,OMIM:601777, Orphanet:1872; MONDO:MONDO:0008764,MedGen:C2931258,OMIM:204000, Orphanet:651779159207915920GA17:g.7915920G>AClinGen:CA226068CN517202 not provided;
NM_000180.4(GUCY2D):c.2113G>T (p.Asp705Tyr)3000GUCY2DUncertain significance-1RCV001874211; NMONDO:MONDO:0011143,MedGen:C1866293,OMIM:601777, Orphanet:1872; MONDO:MONDO:0008764,MedGen:C2931258,OMIM:204000, Orphanet:651779159247915924GT7915924-
NM_000180.4(GUCY2D):c.2113+9C>A3000GUCY2DLikely benign-1RCV002212746; NMONDO:MONDO:0011143,MedGen:C1866293,OMIM:601777, Orphanet:1872; MONDO:MONDO:0008764,MedGen:C2931258,OMIM:204000, Orphanet:651779159337915933CA7915933-
NM_000180.4(GUCY2D):c.2113+9C>G3000GUCY2DLikely benign-1RCV002198740; NMONDO:MONDO:0011143,MedGen:C1866293,OMIM:601777, Orphanet:1872; MONDO:MONDO:0008764,MedGen:C2931258,OMIM:204000, Orphanet:651779159337915933CG7915933-
NM_000180.4(GUCY2D):c.2113+10C>T3000GUCY2DLikely benign-1RCV001466522; NMONDO:MONDO:0011143,MedGen:C1866293,OMIM:601777, Orphanet:1872; MONDO:MONDO:0008764,MedGen:C2931258,OMIM:204000, Orphanet:651779159347915934CT7915934-
NM_000180.4(GUCY2D):c.2114-17_2114-16delinsTT3000GUCY2DLikely benign-1RCV002216920; NMONDO:MONDO:0008764,MedGen:C2931258,OMIM:204000, Orphanet:65; MONDO:MONDO:0011143,MedGen:C1866293,OMIM:601777, Orphanet:18721779164047916405CCTT7916404-
NM_000180.4(GUCY2D):c.2114-17C>T3000GUCY2DLikely benign-1RCV002190978; NMONDO:MONDO:0008764,MedGen:C2931258,OMIM:204000, Orphanet:65; MONDO:MONDO:0011143,MedGen:C1866293,OMIM:601777, Orphanet:18721779164047916404CT7916404-
NM_000180.4(GUCY2D):c.2114-9del3000GUCY2DBenign-1RCV002124845; NMONDO:MONDO:0008764,MedGen:C2931258,OMIM:204000, Orphanet:65; MONDO:MONDO:0011143,MedGen:C1866293,OMIM:601777, Orphanet:18721779164097916409TCT7916408-
NM_000180.4(GUCY2D):c.2114-9C>T3000GUCY2DLikely benign-1RCV001437972; NMONDO:MONDO:0011143,MedGen:C1866293,OMIM:601777, Orphanet:1872; MONDO:MONDO:0008764,MedGen:C2931258,OMIM:204000, Orphanet:651779164127916412CT7916412-
NM_000180.4(GUCY2D):c.2122T>C (p.Trp708Arg)3000GUCY2DConflicting interpretations of pathogenicityrs1064797217RCV000488275|RCV001360599; NMedGen:CN517202|MONDO:MONDO:0011143,MedGen:C1866293,OMIM:601777, Orphanet:1872; MONDO:MONDO:0008764,MedGen:C2931258,OMIM:204000, Orphanet:651779164297916429TC17:g.7916429T>CClinGen:CA16621700CN517202 not provided;
NM_000180.4(GUCY2D):c.2127A>G (p.Thr709=)3000GUCY2DLikely benign-1RCV001497443; NMONDO:MONDO:0011143,MedGen:C1866293,OMIM:601777, Orphanet:1872; MONDO:MONDO:0008764,MedGen:C2931258,OMIM:204000, Orphanet:651779164347916434AG7916434-
NM_000180.4(GUCY2D):c.2132C>T (p.Pro711Leu)3000GUCY2DUncertain significancers765463082RCV001250836|RCV001306871; NMONDO:MONDO:0008764,MedGen:C2931258,OMIM:204000, Orphanet:65|MONDO:MONDO:0011143,MedGen:C1866293,OMIM:601777, Orphanet:1872; MONDO:MONDO:0008764,MedGen:C2931258,OMIM:204000, Orphanet:651779164397916439CT17:g.7916439C>T-
NM_000180.4(GUCY2D):c.2146G>A (p.Asp716Asn)3000GUCY2DUncertain significance-1RCV001958516; NMONDO:MONDO:0008764,MedGen:C2931258,OMIM:204000, Orphanet:65; MONDO:MONDO:0011143,MedGen:C1866293,OMIM:601777, Orphanet:18721779164537916453GA7916453-
NM_000180.4(GUCY2D):c.2153C>G (p.Ala718Gly)3000GUCY2DUncertain significance-1RCV001974253; NMONDO:MONDO:0011143,MedGen:C1866293,OMIM:601777, Orphanet:1872; MONDO:MONDO:0008764,MedGen:C2931258,OMIM:204000, Orphanet:651779164607916460CG7916460-
NM_000180.4(GUCY2D):c.2155C>T (p.Leu719=)3000GUCY2DBenignrs151106252RCV000947765; NMONDO:MONDO:0008764,MedGen:C2931258,OMIM:204000, Orphanet:65; MONDO:MONDO:0011143,MedGen:C1866293,OMIM:601777, Orphanet:18721779164627916462CT17:g.7916462C>T-
NM_000180.4(GUCY2D):c.2156T>C (p.Leu719Pro)3000GUCY2DUncertain significance-1RCV001995429; NMONDO:MONDO:0011143,MedGen:C1866293,OMIM:601777, Orphanet:1872; MONDO:MONDO:0008764,MedGen:C2931258,OMIM:204000, Orphanet:651779164637916463TC7916463-
NM_000180.4(GUCY2D):c.2157G>A (p.Leu719=)3000GUCY2DLikely benign-1RCV001504378; NMONDO:MONDO:0011143,MedGen:C1866293,OMIM:601777, Orphanet:1872; MONDO:MONDO:0008764,MedGen:C2931258,OMIM:204000, Orphanet:651779164647916464GA7916464-
NM_000180.4(GUCY2D):c.2162G>A (p.Arg721His)3000GUCY2DUncertain significance-1RCV002016688; NMONDO:MONDO:0008764,MedGen:C2931258,OMIM:204000, Orphanet:65; MONDO:MONDO:0011143,MedGen:C1866293,OMIM:601777, Orphanet:18721779164697916469GA7916469-
NM_000180.4(GUCY2D):c.2164C>T (p.Arg722Trp)3000GUCY2DConflicting interpretations of pathogenicityrs34331388RCV000945910|RCV001811545; NMONDO:MONDO:0011143,MedGen:C1866293,OMIM:601777, Orphanet:1872; MONDO:MONDO:0008764,MedGen:C2931258,OMIM:204000, Orphanet:65|MedGen:CN5172021779164717916471CT17:g.7916471C>T-
NM_000180.4(GUCY2D):c.2165G>A (p.Arg722Gln)3000GUCY2DUncertain significance-1RCV001372821; NMONDO:MONDO:0008764,MedGen:C2931258,OMIM:204000, Orphanet:65; MONDO:MONDO:0011143,MedGen:C1866293,OMIM:601777, Orphanet:18721779164727916472GA7916472-
NM_000180.4(GUCY2D):c.2171C>T (p.Thr724Met)3000GUCY2DUncertain significancers561318435RCV001057559|RCV001585958; NMONDO:MONDO:0008764,MedGen:C2931258,OMIM:204000, Orphanet:65; MONDO:MONDO:0011143,MedGen:C1866293,OMIM:601777, Orphanet:1872|MedGen:CN5172021779164787916478CT17:g.7916478C>T-
NM_000180.4(GUCY2D):c.2172G>A (p.Thr724=)3000GUCY2DLikely benign-1RCV001403816; NMONDO:MONDO:0011143,MedGen:C1866293,OMIM:601777, Orphanet:1872; MONDO:MONDO:0008764,MedGen:C2931258,OMIM:204000, Orphanet:651779164797916479GA7916479-
NM_000180.4(GUCY2D):c.2176G>A (p.Ala726Thr)3000GUCY2DUncertain significance-1RCV001995779; NMONDO:MONDO:0011143,MedGen:C1866293,OMIM:601777, Orphanet:1872; MONDO:MONDO:0008764,MedGen:C2931258,OMIM:204000, Orphanet:651779164837916483GA7916483-
NM_000180.4(GUCY2D):c.2178C>T (p.Ala726=)3000GUCY2DLikely benignrs377648185RCV000941750; NMONDO:MONDO:0011143,MedGen:C1866293,OMIM:601777, Orphanet:1872; MONDO:MONDO:0008764,MedGen:C2931258,OMIM:204000, Orphanet:651779164857916485CT17:g.7916485C>T-
NM_000180.4(GUCY2D):c.2179G>A (p.Gly727Ser)3000GUCY2DUncertain significancers146820642RCV001065277|RCV001700693; NMONDO:MONDO:0008764,MedGen:C2931258,OMIM:204000, Orphanet:65; MONDO:MONDO:0011143,MedGen:C1866293,OMIM:601777, Orphanet:1872|MedGen:CN5172021779164867916486GA17:g.7916486G>A-
NM_000180.4(GUCY2D):c.2181C>A (p.Gly727=)3000GUCY2DLikely benignrs140628227RCV000951815; NMONDO:MONDO:0008764,MedGen:C2931258,OMIM:204000, Orphanet:65; MONDO:MONDO:0011143,MedGen:C1866293,OMIM:601777, Orphanet:18721779164887916488CA17:g.7916488C>A-
NM_000180.4(GUCY2D):c.2181C>T (p.Gly727=)3000GUCY2DUncertain significancers140628227RCV001339365; NMONDO:MONDO:0008764,MedGen:C2931258,OMIM:204000, Orphanet:65; MONDO:MONDO:0011143,MedGen:C1866293,OMIM:601777, Orphanet:18721779164887916488CT7916488-
NM_000180.4(GUCY2D):c.2184C>T (p.Asp728=)3000GUCY2DLikely benign-1RCV001483797; NMONDO:MONDO:0011143,MedGen:C1866293,OMIM:601777, Orphanet:1872; MONDO:MONDO:0008764,MedGen:C2931258,OMIM:204000, Orphanet:651779164917916491CT7916491-
NM_000180.4(GUCY2D):c.2204T>C (p.Ile735Thr)3000GUCY2DUncertain significancers1975891409RCV001228156; NMONDO:MONDO:0008764,MedGen:C2931258,OMIM:204000, Orphanet:65; MONDO:MONDO:0011143,MedGen:C1866293,OMIM:601777, Orphanet:18721779165117916511TC17:g.7916511T>C-
NM_000180.4(GUCY2D):c.2206A>G (p.Met736Val)3000GUCY2DUncertain significance-1RCV002005400; NMONDO:MONDO:0008764,MedGen:C2931258,OMIM:204000, Orphanet:65; MONDO:MONDO:0011143,MedGen:C1866293,OMIM:601777, Orphanet:18721779165137916513AG7916513-
NM_000180.4(GUCY2D):c.2209C>T (p.Gln737Ter)3000GUCY2DPathogenic-1RCV001951185; NMONDO:MONDO:0011143,MedGen:C1866293,OMIM:601777, Orphanet:1872; MONDO:MONDO:0008764,MedGen:C2931258,OMIM:204000, Orphanet:651779165167916516CT7916516-
NM_000180.4(GUCY2D):c.2224C>T (p.Arg742Cys)3000GUCY2DUncertain significancers532577225RCV001063561; NMONDO:MONDO:0011143,MedGen:C1866293,OMIM:601777, Orphanet:1872; MONDO:MONDO:0008764,MedGen:C2931258,OMIM:204000, Orphanet:651779165317916531CT17:g.7916531C>T-
NM_000180.4(GUCY2D):c.2241C>T (p.Ala747=)3000GUCY2DLikely benign-1RCV002178517; NMONDO:MONDO:0011143,MedGen:C1866293,OMIM:601777, Orphanet:1872; MONDO:MONDO:0008764,MedGen:C2931258,OMIM:204000, Orphanet:651779165487916548CT7916548-
NM_000180.4(GUCY2D):c.2247G>A (p.Leu749=)3000GUCY2DUncertain significance-1RCV002048939; NMONDO:MONDO:0008764,MedGen:C2931258,OMIM:204000, Orphanet:65; MONDO:MONDO:0011143,MedGen:C1866293,OMIM:601777, Orphanet:18721779165547916554GA7916554-
NM_000180.4(GUCY2D):c.2260G>A (p.Glu754Lys)3000GUCY2DUncertain significancers747951577RCV001206653; NMONDO:MONDO:0011143,MedGen:C1866293,OMIM:601777, Orphanet:1872; MONDO:MONDO:0008764,MedGen:C2931258,OMIM:204000, Orphanet:651779165677916567GA17:g.7916567G>A-
NM_000180.4(GUCY2D):c.2260G>T (p.Glu754Ter)3000GUCY2DPathogenic-1RCV001944799; NMONDO:MONDO:0011143,MedGen:C1866293,OMIM:601777, Orphanet:1872; MONDO:MONDO:0008764,MedGen:C2931258,OMIM:204000, Orphanet:651779165677916567GT7916567-
NM_000180.4(GUCY2D):c.2262G>A (p.Glu754=)3000GUCY2DUncertain significance-1RCV001994168; NMONDO:MONDO:0011143,MedGen:C1866293,OMIM:601777, Orphanet:1872; MONDO:MONDO:0008764,MedGen:C2931258,OMIM:204000, Orphanet:651779165697916569GA7916569-
NM_000180.4(GUCY2D):c.2263+17C>T3000GUCY2DLikely benign-1RCV002101640; NMONDO:MONDO:0008764,MedGen:C2931258,OMIM:204000, Orphanet:65; MONDO:MONDO:0011143,MedGen:C1866293,OMIM:601777, Orphanet:18721779165877916587CT7916587-
NM_000180.4(GUCY2D):c.2263+18G>A3000GUCY2DLikely benign-1RCV002169256; NMONDO:MONDO:0008764,MedGen:C2931258,OMIM:204000, Orphanet:65; MONDO:MONDO:0011143,MedGen:C1866293,OMIM:601777, Orphanet:18721779165887916588GA7916588-
NM_000180.4(GUCY2D):c.2264-16C>A3000GUCY2DLikely benign-1RCV002168536; NMONDO:MONDO:0011143,MedGen:C1866293,OMIM:601777, Orphanet:1872; MONDO:MONDO:0008764,MedGen:C2931258,OMIM:204000, Orphanet:651779171827917182CA7917182-
NM_000180.4(GUCY2D):c.2264-10A>G3000GUCY2DLikely benign-1RCV001480057; NMONDO:MONDO:0008764,MedGen:C2931258,OMIM:204000, Orphanet:65; MONDO:MONDO:0011143,MedGen:C1866293,OMIM:601777, Orphanet:18721779171887917188AG7917188-
NM_000180.4(GUCY2D):c.2266GTG[1] (p.Val757del)3000GUCY2DUncertain significance-1RCV002018484; NMONDO:MONDO:0011143,MedGen:C1866293,OMIM:601777, Orphanet:1872; MONDO:MONDO:0008764,MedGen:C2931258,OMIM:204000, Orphanet:651779172007917202AGTGA7917199-
NM_000180.4(GUCY2D):c.2268G>C (p.Val756=)3000GUCY2DLikely benign-1RCV001493613; NMONDO:MONDO:0011143,MedGen:C1866293,OMIM:601777, Orphanet:1872; MONDO:MONDO:0008764,MedGen:C2931258,OMIM:204000, Orphanet:651779172027917202GC7917202-
NM_000180.4(GUCY2D):c.2271G>A (p.Val757=)3000GUCY2DLikely benign-1RCV001470446; NMONDO:MONDO:0011143,MedGen:C1866293,OMIM:601777, Orphanet:1872; MONDO:MONDO:0008764,MedGen:C2931258,OMIM:204000, Orphanet:651779172057917205GA7917205-
NM_000180.4(GUCY2D):c.2281C>T (p.Arg761Trp)3000GUCY2DUncertain significancers200637525RCV001059685; NMONDO:MONDO:0008764,MedGen:C2931258,OMIM:204000, Orphanet:65; MONDO:MONDO:0011143,MedGen:C1866293,OMIM:601777, Orphanet:18721779172157917215CT17:g.7917215C>T-
NM_000180.4(GUCY2D):c.2282G>A (p.Arg761Gln)3000GUCY2DUncertain significance-1RCV001884991; NMONDO:MONDO:0008764,MedGen:C2931258,OMIM:204000, Orphanet:65; MONDO:MONDO:0011143,MedGen:C1866293,OMIM:601777, Orphanet:18721779172167917216GA7917216-
NM_000180.4(GUCY2D):c.2290C>T (p.Pro764Ser)3000GUCY2DUncertain significancers1975906957RCV001232110; NMONDO:MONDO:0008764,MedGen:C2931258,OMIM:204000, Orphanet:65; MONDO:MONDO:0011143,MedGen:C1866293,OMIM:601777, Orphanet:18721779172247917224CT17:g.7917224C>T-
NM_000180.4(GUCY2D):c.2292T>C (p.Pro764=)3000GUCY2DLikely benign-1RCV002102541; NMONDO:MONDO:0008764,MedGen:C2931258,OMIM:204000, Orphanet:65; MONDO:MONDO:0011143,MedGen:C1866293,OMIM:601777, Orphanet:18721779172267917226TC7917226-
NM_000180.4(GUCY2D):c.2301T>C (p.Cys767=)3000GUCY2DLikely benign-1RCV001454009; NMONDO:MONDO:0011143,MedGen:C1866293,OMIM:601777, Orphanet:1872; MONDO:MONDO:0008764,MedGen:C2931258,OMIM:204000, Orphanet:651779172357917235TC7917235-
NM_000180.4(GUCY2D):c.2302C>T (p.Arg768Trp)3000GUCY2DPathogenicrs61750168RCV000084856|RCV000543628|RCV000763023|RCV000850093|RCV000787613|RCV000850094|RCV001075745; NMedGen:CN517202|MONDO:MONDO:0008764,MedGen:C2931258,OMIM:204000, Orphanet:65; MONDO:MONDO:0011143,MedGen:C1866293,OMIM:601777, Orphanet:1872|MONDO:MONDO:0008764,MedGen:C2931258,OMIM:204000, Orphanet:65; MONDO:MONDO:0024539,MedGen:C4551884,OMIM:215500,Orphane1779172367917236CT17:g.7917236C>TClinGen:CA226075,UniProtKB:Q02846#VAR_067179,OMIM:600179.0012C1866293 601777 Cone-rod dystrophy 6;
NM_000180.4(GUCY2D):c.2312T>A (p.Val771Glu)3000GUCY2DUncertain significance-1RCV001362514; NMONDO:MONDO:0011143,MedGen:C1866293,OMIM:601777, Orphanet:1872; MONDO:MONDO:0008764,MedGen:C2931258,OMIM:204000, Orphanet:651779172467917246TA7917246-
NM_000180.4(GUCY2D):c.2318T>C (p.Met773Thr)3000GUCY2DUncertain significancers143650826RCV001244625; NMONDO:MONDO:0008764,MedGen:C2931258,OMIM:204000, Orphanet:65; MONDO:MONDO:0011143,MedGen:C1866293,OMIM:601777, Orphanet:18721779172527917252TC17:g.7917252T>C-
NM_000180.4(GUCY2D):c.2325G>T (p.Gln775His)3000GUCY2DUncertain significancers368384232RCV001337358; NMONDO:MONDO:0011143,MedGen:C1866293,OMIM:601777, Orphanet:1872; MONDO:MONDO:0008764,MedGen:C2931258,OMIM:204000, Orphanet:651779172597917259GT7917259-
NM_000180.4(GUCY2D):c.2331T>C (p.Pro777=)3000GUCY2DLikely benignrs147201985RCV000922364; NMONDO:MONDO:0011143,MedGen:C1866293,OMIM:601777, Orphanet:1872; MONDO:MONDO:0008764,MedGen:C2931258,OMIM:204000, Orphanet:651779172657917265TC17:g.7917265T>C-
NM_000180.4(GUCY2D):c.2334C>T (p.Val778=)3000GUCY2DLikely benignrs371541944RCV000912406|RCV002065827; NMedGen:CN517202|MONDO:MONDO:0008764,MedGen:C2931258,OMIM:204000, Orphanet:65; MONDO:MONDO:0011143,MedGen:C1866293,OMIM:601777, Orphanet:18721779172687917268CT17:g.7917268C>T-
NM_000180.4(GUCY2D):c.2339G>A (p.Cys780Tyr)3000GUCY2DUncertain significance-1RCV001867131; NMONDO:MONDO:0008764,MedGen:C2931258,OMIM:204000, Orphanet:65; MONDO:MONDO:0011143,MedGen:C1866293,OMIM:601777, Orphanet:18721779172737917273GA7917273-
NM_000180.4(GUCY2D):c.2345T>A (p.Leu782His)3000GUCY2DBenignrs8069344RCV000248393|RCV000989741|RCV001517915|RCV001651111|RCV001701716|RCV001702378|RCV001702377; NMedGen:CN169374|MONDO:MONDO:0011143,MedGen:C1866293,OMIM:601777, Orphanet:1872|MONDO:MONDO:0011143,MedGen:C1866293,OMIM:601777, Orphanet:1872; MONDO:MONDO:0008764,MedGen:C2931258,OMIM:204000, Orphanet:65|MedGen:CN517202|MONDO:MONDO:0008764,MedGen:C2931258,O1779172797917279TA17:g.7917279T>AClinGen:CA8366093,UniProtKB:Q02846#VAR_009133CN169374 not specified;
NM_000180.4(GUCY2D):c.2348T>C (p.Leu783Pro)3000GUCY2DUncertain significance-1RCV001901869; NMONDO:MONDO:0011143,MedGen:C1866293,OMIM:601777, Orphanet:1872; MONDO:MONDO:0008764,MedGen:C2931258,OMIM:204000, Orphanet:651779172827917282TC7917282-
NM_000180.4(GUCY2D):c.2359T>G (p.Cys787Gly)3000GUCY2DUncertain significancers368958527RCV001352537; NMONDO:MONDO:0011143,MedGen:C1866293,OMIM:601777, Orphanet:1872; MONDO:MONDO:0008764,MedGen:C2931258,OMIM:204000, Orphanet:651779172937917293TG7917293-
NM_000180.4(GUCY2D):c.2376G>A (p.Pro792=)3000GUCY2DLikely benign-1RCV002198239; NMONDO:MONDO:0008764,MedGen:C2931258,OMIM:204000, Orphanet:65; MONDO:MONDO:0011143,MedGen:C1866293,OMIM:601777, Orphanet:18721779173107917310GA7917310-
NM_000180.4(GUCY2D):c.2376G>C (p.Pro792=)3000GUCY2DLikely benign-1RCV002168244; NMONDO:MONDO:0011143,MedGen:C1866293,OMIM:601777, Orphanet:1872; MONDO:MONDO:0008764,MedGen:C2931258,OMIM:204000, Orphanet:651779173107917310GC7917310-
NM_000180.4(GUCY2D):c.2383C>T (p.Arg795Trp)3000GUCY2DPathogenic-1RCV001383052; NMONDO:MONDO:0011143,MedGen:C1866293,OMIM:601777, Orphanet:1872; MONDO:MONDO:0008764,MedGen:C2931258,OMIM:204000, Orphanet:651779173177917317CT7917317-
NM_000180.4(GUCY2D):c.2387C>T (p.Pro796Leu)3000GUCY2DUncertain significance-1RCV001917215; NMONDO:MONDO:0008764,MedGen:C2931258,OMIM:204000, Orphanet:65; MONDO:MONDO:0011143,MedGen:C1866293,OMIM:601777, Orphanet:18721779173217917321CT7917321-
NM_000180.4(GUCY2D):c.2392A>G (p.Met798Val)3000GUCY2DUncertain significance-1RCV001897461; NMONDO:MONDO:0008764,MedGen:C2931258,OMIM:204000, Orphanet:65; MONDO:MONDO:0011143,MedGen:C1866293,OMIM:601777, Orphanet:18721779173267917326AG7917326-
NM_000180.4(GUCY2D):c.2395_2398dup (p.His800fs)3000GUCY2DPathogenicrs1975911430RCV001208974; NMONDO:MONDO:0011143,MedGen:C1866293,OMIM:601777, Orphanet:1872; MONDO:MONDO:0008764,MedGen:C2931258,OMIM:204000, Orphanet:651779173287917329GGGACC17:g.7917328_7917329insGACC-
NM_000180.4(GUCY2D):c.2412+2T>C3000GUCY2DLikely pathogenic-1RCV002012499; NMONDO:MONDO:0011143,MedGen:C1866293,OMIM:601777, Orphanet:1872; MONDO:MONDO:0008764,MedGen:C2931258,OMIM:204000, Orphanet:651779173487917348TC7917348-
NM_000180.4(GUCY2D):c.2412+4A>C3000GUCY2DUncertain significancers951825929RCV001351141; NMONDO:MONDO:0008764,MedGen:C2931258,OMIM:204000, Orphanet:65; MONDO:MONDO:0011143,MedGen:C1866293,OMIM:601777, Orphanet:18721779173507917350AC7917350-
NM_000180.4(GUCY2D):c.2412+10T>C3000GUCY2DLikely benign-1RCV002114465; NMONDO:MONDO:0008764,MedGen:C2931258,OMIM:204000, Orphanet:65; MONDO:MONDO:0011143,MedGen:C1866293,OMIM:601777, Orphanet:18721779173567917356TC7917356-
NM_000180.4(GUCY2D):c.2413-14C>T3000GUCY2DBenign-1RCV002177301; NMONDO:MONDO:0011143,MedGen:C1866293,OMIM:601777, Orphanet:1872; MONDO:MONDO:0008764,MedGen:C2931258,OMIM:204000, Orphanet:651779179057917905CT7917905-
NM_000180.4(GUCY2D):c.2431G>A (p.Gly811Ser)3000GUCY2DUncertain significancers1196292120RCV000816166; NMONDO:MONDO:0011143,MedGen:C1866293,OMIM:601777, Orphanet:1872; MONDO:MONDO:0008764,MedGen:C2931258,OMIM:204000, Orphanet:651779179377917937GA17:g.7917937G>A-
NM_000180.4(GUCY2D):c.2432G>A (p.Gly811Asp)3000GUCY2DUncertain significance-1RCV002023858; NMONDO:MONDO:0011143,MedGen:C1866293,OMIM:601777, Orphanet:1872; MONDO:MONDO:0008764,MedGen:C2931258,OMIM:204000, Orphanet:651779179387917938GA7917938-
NM_000180.4(GUCY2D):c.2434C>G (p.Arg812Gly)3000GUCY2DUncertain significancers894774212RCV001212256; NMONDO:MONDO:0011143,MedGen:C1866293,OMIM:601777, Orphanet:1872; MONDO:MONDO:0008764,MedGen:C2931258,OMIM:204000, Orphanet:651779179407917940CG17:g.7917940C>G-
NM_000180.4(GUCY2D):c.2435G>A (p.Arg812Gln)3000GUCY2DUncertain significance-1RCV002033571; NMONDO:MONDO:0011143,MedGen:C1866293,OMIM:601777, Orphanet:1872; MONDO:MONDO:0008764,MedGen:C2931258,OMIM:204000, Orphanet:651779179417917941GA7917941-
NM_000180.4(GUCY2D):c.2439G>C (p.Lys813Asn)3000GUCY2DUncertain significancers1477300555RCV001346183; NMONDO:MONDO:0011143,MedGen:C1866293,OMIM:601777, Orphanet:1872; MONDO:MONDO:0008764,MedGen:C2931258,OMIM:204000, Orphanet:651779179457917945GC7917945-
NM_000180.4(GUCY2D):c.2441C>T (p.Thr814Met)3000GUCY2DUncertain significancers150742659RCV001347446; NMONDO:MONDO:0011143,MedGen:C1866293,OMIM:601777, Orphanet:1872; MONDO:MONDO:0008764,MedGen:C2931258,OMIM:204000, Orphanet:651779179477917947CT7917947-
NM_000180.4(GUCY2D):c.2467A>T (p.Met823Leu)3000GUCY2DUncertain significance-1RCV002051068; NMONDO:MONDO:0008764,MedGen:C2931258,OMIM:204000, Orphanet:65; MONDO:MONDO:0011143,MedGen:C1866293,OMIM:601777, Orphanet:18721779179737917973AT7917973-
NM_000180.4(GUCY2D):c.2476C>T (p.Gln826Ter)3000GUCY2DPathogenic-1RCV001383053; NMONDO:MONDO:0011143,MedGen:C1866293,OMIM:601777, Orphanet:1872; MONDO:MONDO:0008764,MedGen:C2931258,OMIM:204000, Orphanet:651779179827917982CT7917982-
NM_000180.4(GUCY2D):c.2479T>G (p.Tyr827Asp)3000GUCY2DUncertain significance-1RCV001911650; NMONDO:MONDO:0011143,MedGen:C1866293,OMIM:601777, Orphanet:1872; MONDO:MONDO:0008764,MedGen:C2931258,OMIM:204000, Orphanet:651779179857917985TG7917985-
NM_000180.4(GUCY2D):c.2480A>G (p.Tyr827Cys)3000GUCY2DUncertain significancers1975925661RCV001240710; NMONDO:MONDO:0008764,MedGen:C2931258,OMIM:204000, Orphanet:65; MONDO:MONDO:0011143,MedGen:C1866293,OMIM:601777, Orphanet:18721779179867917986AG17:g.7917986A>G-
NM_000180.4(GUCY2D):c.2491C>T (p.Leu831=)3000GUCY2DConflicting interpretations of pathogenicityrs771641368RCV000592902|RCV001399833; NMedGen:CN517202|MONDO:MONDO:0008764,MedGen:C2931258,OMIM:204000, Orphanet:65; MONDO:MONDO:0011143,MedGen:C1866293,OMIM:601777, Orphanet:18721779179977917997CT17:g.7917997C>TClinGen:CA8366141CN169374 not specified;
NM_000180.4(GUCY2D):c.2494G>A (p.Glu832Lys)3000GUCY2DUncertain significancers1975926150RCV001337669; NMONDO:MONDO:0008764,MedGen:C2931258,OMIM:204000, Orphanet:65; MONDO:MONDO:0011143,MedGen:C1866293,OMIM:601777, Orphanet:18721779180007918000GA7918000-
NM_000180.4(GUCY2D):c.2496G>A (p.Glu832=)3000GUCY2DLikely benign-1RCV001505238; NMONDO:MONDO:0011143,MedGen:C1866293,OMIM:601777, Orphanet:1872; MONDO:MONDO:0008764,MedGen:C2931258,OMIM:204000, Orphanet:651779180027918002GA7918002-
NM_000180.4(GUCY2D):c.2505C>T (p.Ile835=)3000GUCY2DLikely benign-1RCV002170897; NMONDO:MONDO:0011143,MedGen:C1866293,OMIM:601777, Orphanet:1872; MONDO:MONDO:0008764,MedGen:C2931258,OMIM:204000, Orphanet:651779180117918011CT7918011-
NM_000180.4(GUCY2D):c.2506C>T (p.Arg836Trp)3000GUCY2DUncertain significancers145420245RCV001319485; NMONDO:MONDO:0011143,MedGen:C1866293,OMIM:601777, Orphanet:1872; MONDO:MONDO:0008764,MedGen:C2931258,OMIM:204000, Orphanet:651779180127918012CT7918012-
NM_000180.4(GUCY2D):c.2507G>A (p.Arg836Gln)3000GUCY2DUncertain significance-1RCV001893642; NMONDO:MONDO:0011143,MedGen:C1866293,OMIM:601777, Orphanet:1872; MONDO:MONDO:0008764,MedGen:C2931258,OMIM:204000, Orphanet:651779180137918013GA7918013-
NM_000180.4(GUCY2D):c.2509G>A (p.Glu837Lys)3000GUCY2DUncertain significance-1RCV001371216; NMONDO:MONDO:0011143,MedGen:C1866293,OMIM:601777, Orphanet:1872; MONDO:MONDO:0008764,MedGen:C2931258,OMIM:204000, Orphanet:651779180157918015GA7918015-
NM_000180.4(GUCY2D):c.2512C>T (p.Arg838Cys)3000GUCY2DPathogenic/Likely pathogenicrs61750172RCV000009949|RCV000084862|RCV001065465|RCV001074299|RCV001197374|RCV001003042|RCV001376215; NMONDO:MONDO:0011143,MedGen:C1866293,OMIM:601777, Orphanet:1872|MedGen:CN517202|MONDO:MONDO:0008764,MedGen:C2931258,OMIM:204000, Orphanet:65; MONDO:MONDO:0011143,MedGen:C1866293,OMIM:601777, Orphanet:1872|Human Phenotype Ontology:HP:0000556,Human Phenotype O1779180187918018CT17:g.7918018C>TClinGen:CA226085,UniProtKB:Q02846#VAR_003437,OMIM:600179.0006,OMIM:600179.0007,ClinVar:453244C1866293 601777 Cone-rod dystrophy 6;
NM_000180.4(GUCY2D):c.2512C>A (p.Arg838Ser)3000GUCY2DPathogenicrs61750172RCV000084861|RCV001854486; NMedGen:CN517202|MONDO:MONDO:0008764,MedGen:C2931258,OMIM:204000, Orphanet:65; MONDO:MONDO:0011143,MedGen:C1866293,OMIM:601777, Orphanet:18721779180187918018CA17:g.7918018C>AClinGen:CA226083,OMIM:600179.0005,ClinVar:453243C1866293 601777 Cone-rod dystrophy 6;
NM_000180.4(GUCY2D):c.2513G>A (p.Arg838His)3000GUCY2DPathogenic/Likely pathogenicrs61750173RCV000009951|RCV000084863|RCV000504851|RCV000787614|RCV001003043|RCV001228516|RCV001271114|RCV001723556; NMONDO:MONDO:0011143,MedGen:C1866293,OMIM:601777, 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:0001779180197918019GA17:g.7918019G>AClinGen:CA226086,UniProtKB:Q02846#VAR_015373,OMIM:600179.0008C1866293 601777 Cone-rod dystrophy 6;
NM_000180.4(GUCY2D):c.2516C>T (p.Thr839Met)3000GUCY2DUncertain significancers61750174RCV000084864|RCV001239266; NMedGen:CN517202|MONDO:MONDO:0008764,MedGen:C2931258,OMIM:204000, Orphanet:65; MONDO:MONDO:0011143,MedGen:C1866293,OMIM:601777, Orphanet:18721779180227918022CT17:g.7918022C>TClinGen:CA226087,OMIM:600179.0007,ClinVar:453244C1866293 601777 Cone-rod dystrophy 6;
NM_000180.4(GUCY2D):c.2516C>G (p.Thr839Arg)3000GUCY2DUncertain significancers61750174RCV000786870|RCV001341059; NMONDO:MONDO:0011143,MedGen:C1866293,OMIM:601777, Orphanet:1872|MONDO:MONDO:0011143,MedGen:C1866293,OMIM:601777, Orphanet:1872; MONDO:MONDO:0008764,MedGen:C2931258,OMIM:204000, Orphanet:651779180227918022CG17:g.7918022C>G-
NM_000180.4(GUCY2D):c.2516del (p.Thr839fs)3000GUCY2DPathogenicrs756044745RCV001207599; NMONDO:MONDO:0011143,MedGen:C1866293,OMIM:601777, Orphanet:1872; MONDO:MONDO:0008764,MedGen:C2931258,OMIM:204000, Orphanet:651779180227918022ACA17:g.7918022_7918022del-
NM_000180.4(GUCY2D):c.2517G>A (p.Thr839=)3000GUCY2DBenign/Likely benignrs56316238RCV000877846|RCV001786420; NMONDO:MONDO:0011143,MedGen:C1866293,OMIM:601777, Orphanet:1872; MONDO:MONDO:0008764,MedGen:C2931258,OMIM:204000, Orphanet:65|MedGen:CN5172021779180237918023GA17:g.7918023G>A-
NM_000180.4(GUCY2D):c.2531T>C (p.Leu844Pro)3000GUCY2DUncertain significancers962715477RCV001250842|RCV001879809; NMONDO:MONDO:0008764,MedGen:C2931258,OMIM:204000, Orphanet:65|MONDO:MONDO:0008764,MedGen:C2931258,OMIM:204000, Orphanet:65; MONDO:MONDO:0011143,MedGen:C1866293,OMIM:601777, Orphanet:18721779180377918037TC17:g.7918037T>C-
NM_000180.4(GUCY2D):c.2538G>C (p.Lys846Asn)3000GUCY2DPathogenicrs1598150539RCV001003045|RCV001860527; N|MONDO:MONDO:0008764,MedGen:C2931258,OMIM:204000, Orphanet:65; MONDO:MONDO:0011143,MedGen:C1866293,OMIM:601777, Orphanet:18721779180447918044GC17:g.7918044G>C-
NM_000180.4(GUCY2D):c.2545A>G (p.Thr849Ala)3000GUCY2DLikely pathogenic-1RCV001986324; NMONDO:MONDO:0011143,MedGen:C1866293,OMIM:601777, Orphanet:1872; MONDO:MONDO:0008764,MedGen:C2931258,OMIM:204000, Orphanet:651779180517918051AG7918051-
NM_000180.4(GUCY2D):c.2551C>T (p.Arg851Trp)3000GUCY2DUncertain significance-1RCV001367962; NMONDO:MONDO:0008764,MedGen:C2931258,OMIM:204000, Orphanet:65; MONDO:MONDO:0011143,MedGen:C1866293,OMIM:601777, Orphanet:18721779180577918057CT7918057-
NM_000180.4(GUCY2D):c.2563C>T (p.Gln855Ter)3000GUCY2DPathogenicrs1555635778RCV000593037|RCV000700865|RCV000989742; NMedGen:CN517202|MONDO:MONDO:0008764,MedGen:C2931258,OMIM:204000, Orphanet:65; MONDO:MONDO:0011143,MedGen:C1866293,OMIM:601777, Orphanet:1872|MONDO:MONDO:0011143,MedGen:C1866293,OMIM:601777, Orphanet:18721779180697918069CT17:g.7918069C>TClinGen:CA397953824C1866293 601777 Cone-rod dystrophy 6;
NM_000180.4(GUCY2D):c.2572C>A (p.Pro858Thr)3000GUCY2DUncertain significancers61750176RCV001316865; NMONDO:MONDO:0008764,MedGen:C2931258,OMIM:204000, Orphanet:65; MONDO:MONDO:0011143,MedGen:C1866293,OMIM:601777, Orphanet:18721779180787918078CA7918078-
NM_000180.4(GUCY2D):c.2576C>T (p.Pro859Leu)3000GUCY2DUncertain significancers374515716RCV001229728; NMONDO:MONDO:0011143,MedGen:C1866293,OMIM:601777, Orphanet:1872; MONDO:MONDO:0008764,MedGen:C2931258,OMIM:204000, Orphanet:651779180827918082CT17:g.7918082C>T-
NM_000180.4(GUCY2D):c.2576+20G>A3000GUCY2DLikely benign-1RCV002180286; NMONDO:MONDO:0008764,MedGen:C2931258,OMIM:204000, Orphanet:65; MONDO:MONDO:0011143,MedGen:C1866293,OMIM:601777, Orphanet:18721779181027918102GA7918102-
NM_000180.4(GUCY2D):c.2576+37G>T3000GUCY2DBenignrs12103471RCV000084867|RCV001701665|RCV001701666|RCV001701594|RCV001701667; NMedGen:CN517202|MONDO:MONDO:0008764,MedGen:C2931258,OMIM:204000, Orphanet:65|MONDO:MONDO:0011143,MedGen:C1866293,OMIM:601777, Orphanet:1872|MONDO:MONDO:0024539,MedGen:C4551884,OMIM:215500, Orphanet:75377|MONDO:MONDO:0032811,MedGen:C5231408,OMIM:6185551779181197918119GT17:g.7918119G>TClinGen:CA226092CN517202 not provided;
NM_000180.4(GUCY2D):c.2577-15G>A3000GUCY2DBenign-1RCV001521098; NMONDO:MONDO:0011143,MedGen:C1866293,OMIM:601777, Orphanet:1872; MONDO:MONDO:0008764,MedGen:C2931258,OMIM:204000, Orphanet:651779181627918162GA7918162-
NM_000180.4(GUCY2D):c.2577G>T (p.Pro859=)3000GUCY2DBenignrs112372281RCV000174665|RCV000547270; NMedGen:CN169374|MONDO:MONDO:0008764,MedGen:C2931258,OMIM:204000, Orphanet:65; MONDO:MONDO:0011143,MedGen:C1866293,OMIM:601777, Orphanet:18721779181777918177GT17:g.7918177G>TClinGen:CA201118C1866293 601777 Cone-rod dystrophy 6;
NM_000180.4(GUCY2D):c.2578T>C (p.Ser860Pro)3000GUCY2DUncertain significance-1RCV001364466; NMONDO:MONDO:0011143,MedGen:C1866293,OMIM:601777, Orphanet:1872; MONDO:MONDO:0008764,MedGen:C2931258,OMIM:204000, Orphanet:651779181787918178TC7918178-
NM_000180.4(GUCY2D):c.2595del (p.Lys866fs)3000GUCY2DPathogenicrs1200134985RCV001068218; NMONDO:MONDO:0011143,MedGen:C1866293,OMIM:601777, Orphanet:1872; MONDO:MONDO:0008764,MedGen:C2931258,OMIM:204000, Orphanet:651779181957918195TGT17:g.7918195_7918195del-
NM_000180.4(GUCY2D):c.2598G>C (p.Lys866Asn)3000GUCY2DConflicting interpretations of pathogenicityrs201587670RCV000556412|RCV000989743|RCV001250816; NMONDO:MONDO:0011143,MedGen:C1866293,OMIM:601777, Orphanet:1872; MONDO:MONDO:0008764,MedGen:C2931258,OMIM:204000, Orphanet:65|MONDO:MONDO:0011143,MedGen:C1866293,OMIM:601777, Orphanet:1872|MONDO:MONDO:0008764,MedGen:C2931258,OMIM:204000, Orphanet:651779181987918198GC17:g.7918198G>CClinGen:CA8366175C1866293 601777 Cone-rod dystrophy 6;
NM_000180.4(GUCY2D):c.2600C>A (p.Thr867Lys)3000GUCY2DUncertain significancers375727197RCV001348130; NMONDO:MONDO:0011143,MedGen:C1866293,OMIM:601777, Orphanet:1872; MONDO:MONDO:0008764,MedGen:C2931258,OMIM:204000, Orphanet:651779182007918200CA7918200-
NM_000180.4(GUCY2D):c.2600C>T (p.Thr867Met)3000GUCY2DUncertain significance-1RCV001903212; NMONDO:MONDO:0008764,MedGen:C2931258,OMIM:204000, Orphanet:65; MONDO:MONDO:0011143,MedGen:C1866293,OMIM:601777, Orphanet:18721779182007918200CT7918200-
NM_000180.4(GUCY2D):c.2601G>C (p.Thr867=)3000GUCY2DLikely benign-1RCV001442645; NMONDO:MONDO:0011143,MedGen:C1866293,OMIM:601777, Orphanet:1872; MONDO:MONDO:0008764,MedGen:C2931258,OMIM:204000, Orphanet:651779182017918201GC7918201-
NM_000180.4(GUCY2D):c.2601G>A (p.Thr867=)3000GUCY2DLikely benign-1RCV002112429; NMONDO:MONDO:0008764,MedGen:C2931258,OMIM:204000, Orphanet:65; MONDO:MONDO:0011143,MedGen:C1866293,OMIM:601777, Orphanet:18721779182017918201GA7918201-
NM_000180.4(GUCY2D):c.2608C>A (p.Pro870Thr)3000GUCY2DUncertain significance-1RCV001367416; NMONDO:MONDO:0008764,MedGen:C2931258,OMIM:204000, Orphanet:65; MONDO:MONDO:0011143,MedGen:C1866293,OMIM:601777, Orphanet:18721779182087918208CA7918208-
NM_000180.4(GUCY2D):c.2616G>A (p.Glu872=)3000GUCY2DLikely benign-1RCV001419784; NMONDO:MONDO:0011143,MedGen:C1866293,OMIM:601777, Orphanet:1872; MONDO:MONDO:0008764,MedGen:C2931258,OMIM:204000, Orphanet:651779182167918216GA7918216-
NM_000180.4(GUCY2D):c.2618C>G (p.Pro873Arg)3000GUCY2DConflicting interpretations of pathogenicityrs1567961680RCV000697191|RCV001003046|RCV001074400; NMONDO:MONDO:0008764,MedGen:C2931258,OMIM:204000, Orphanet:65; MONDO:MONDO:0011143,MedGen:C1866293,OMIM:601777, Orphanet:1872||Human Phenotype Ontology:HP:0000556,Human Phenotype Ontology:HP:0007736,Human Phenotype Ontology:HP:0007910,Human Phenotype Ontolo1779182187918218CG17:g.7918218C>G-C1866293 601777 Cone-rod dystrophy 6;
NM_000180.4(GUCY2D):c.2620G>A (p.Glu874Lys)3000GUCY2DUncertain significancers1001538483RCV000481166|RCV001047394; NMedGen:CN517202|MONDO:MONDO:0008764,MedGen:C2931258,OMIM:204000, Orphanet:65; MONDO:MONDO:0011143,MedGen:C1866293,OMIM:601777, Orphanet:18721779182207918220GA17:g.7918220G>AClinGen:CA16620650CN169374 not specified;
NM_000180.4(GUCY2D):c.2624A>G (p.Tyr875Cys)3000GUCY2DUncertain significance-1RCV001366902; NMONDO:MONDO:0008764,MedGen:C2931258,OMIM:204000, Orphanet:65; MONDO:MONDO:0011143,MedGen:C1866293,OMIM:601777, Orphanet:18721779182247918224AG7918224-
NM_000180.4(GUCY2D):c.2646C>G (p.Tyr882Ter)3000GUCY2DPathogenic-1RCV001388269; NMONDO:MONDO:0008764,MedGen:C2931258,OMIM:204000, Orphanet:65; MONDO:MONDO:0011143,MedGen:C1866293,OMIM:601777, Orphanet:18721779182467918246CG7918246-
NM_000180.4(GUCY2D):c.2664C>T (p.Gly888=)3000GUCY2DLikely benign-1RCV002146114; NMONDO:MONDO:0008764,MedGen:C2931258,OMIM:204000, Orphanet:65; MONDO:MONDO:0011143,MedGen:C1866293,OMIM:601777, Orphanet:18721779182647918264CT7918264-
NM_000180.4(GUCY2D):c.2674A>G (p.Ile892Val)3000GUCY2DUncertain significance-1RCV001945886; NMONDO:MONDO:0011143,MedGen:C1866293,OMIM:601777, Orphanet:1872; MONDO:MONDO:0008764,MedGen:C2931258,OMIM:204000, Orphanet:651779182747918274AG7918274-
NM_000180.4(GUCY2D):c.2676C>T (p.Ile892=)3000GUCY2DLikely benign-1RCV001475517; NMONDO:MONDO:0008764,MedGen:C2931258,OMIM:204000, Orphanet:65; MONDO:MONDO:0011143,MedGen:C1866293,OMIM:601777, Orphanet:18721779182767918276CT7918276-
NM_000180.4(GUCY2D):c.2682C>T (p.Ala894=)3000GUCY2DLikely benign-1RCV002143643; NMONDO:MONDO:0008764,MedGen:C2931258,OMIM:204000, Orphanet:65; MONDO:MONDO:0011143,MedGen:C1866293,OMIM:601777, Orphanet:18721779182827918282CT7918282-
NM_000180.4(GUCY2D):c.2683A>G (p.Met895Val)3000GUCY2DUncertain significance-1RCV001958383; NMONDO:MONDO:0008764,MedGen:C2931258,OMIM:204000, Orphanet:65; MONDO:MONDO:0011143,MedGen:C1866293,OMIM:601777, Orphanet:18721779182837918283AG7918283-
NM_000180.4(GUCY2D):c.2700G>A (p.Glu900=)3000GUCY2DLikely benign-1RCV001437042; NMONDO:MONDO:0011143,MedGen:C1866293,OMIM:601777, Orphanet:1872; MONDO:MONDO:0008764,MedGen:C2931258,OMIM:204000, Orphanet:651779183007918300GA7918300-
NM_000180.4(GUCY2D):c.2718C>T (p.Asn906=)3000GUCY2DLikely benign-1RCV002143843; NMONDO:MONDO:0008764,MedGen:C2931258,OMIM:204000, Orphanet:65; MONDO:MONDO:0011143,MedGen:C1866293,OMIM:601777, Orphanet:18721779183187918318CT7918318-
NM_000180.4(GUCY2D):c.2743A>G (p.Ile915Val)3000GUCY2DUncertain significance-1RCV001881026; NMONDO:MONDO:0008764,MedGen:C2931258,OMIM:204000, Orphanet:65; MONDO:MONDO:0011143,MedGen:C1866293,OMIM:601777, Orphanet:18721779183437918343AG7918343-
NM_000180.4(GUCY2D):c.2763C>A (p.Val921=)3000GUCY2DLikely benignrs776152947RCV000252972|RCV001456860; NMedGen:CN169374|MONDO:MONDO:0008764,MedGen:C2931258,OMIM:204000, Orphanet:65; MONDO:MONDO:0011143,MedGen:C1866293,OMIM:601777, Orphanet:18721779183637918363CANC_000017.10:g.7918363C>AClinGen:CA8366201CN169374 not specified;
NM_000180.4(GUCY2D):c.2766C>G (p.Tyr922Ter)3000GUCY2DPathogenicrs1006935198RCV000714546|RCV000714545|RCV000714547; NMONDO:MONDO:0008764,MedGen:C2931258,OMIM:204000, Orphanet:65|MONDO:MONDO:0011143,MedGen:C1866293,OMIM:601777, Orphanet:1872|MONDO:MONDO:0024539,MedGen:C4551884,OMIM:215500, Orphanet:753771779183667918366CGNC_000017.10:g.7918366C>G-
NM_000180.4(GUCY2D):c.2769+15G>A3000GUCY2DLikely benign-1RCV002162281; NMONDO:MONDO:0011143,MedGen:C1866293,OMIM:601777, Orphanet:1872; MONDO:MONDO:0008764,MedGen:C2931258,OMIM:204000, Orphanet:651779183847918384GA7918384-
NM_000180.4(GUCY2D):c.2770-16C>T3000GUCY2DLikely benign-1RCV002218915; NMONDO:MONDO:0008764,MedGen:C2931258,OMIM:204000, Orphanet:65; MONDO:MONDO:0011143,MedGen:C1866293,OMIM:601777, Orphanet:18721779186307918630CT7918630-
NM_000180.4(GUCY2D):c.2770-7C>T3000GUCY2DLikely benign-1RCV001441230; NMONDO:MONDO:0011143,MedGen:C1866293,OMIM:601777, Orphanet:1872; MONDO:MONDO:0008764,MedGen:C2931258,OMIM:204000, Orphanet:651779186397918639CT7918639-
NM_000180.4(GUCY2D):c.2779A>G (p.Ile927Val)3000GUCY2DUncertain significancers1975943872RCV001327208; NMONDO:MONDO:0011143,MedGen:C1866293,OMIM:601777, Orphanet:1872; MONDO:MONDO:0008764,MedGen:C2931258,OMIM:204000, Orphanet:651779186557918655AG7918655-
NM_000180.4(GUCY2D):c.2784G>C (p.Gly928=)3000GUCY2DLikely benign-1RCV002207150; NMONDO:MONDO:0011143,MedGen:C1866293,OMIM:601777, Orphanet:1872; MONDO:MONDO:0008764,MedGen:C2931258,OMIM:204000, Orphanet:651779186607918660GC7918660-
NM_000180.4(GUCY2D):c.2787C>T (p.Asp929=)3000GUCY2DLikely benign-1RCV002104741; NMONDO:MONDO:0008764,MedGen:C2931258,OMIM:204000, Orphanet:65; MONDO:MONDO:0011143,MedGen:C1866293,OMIM:601777, Orphanet:18721779186637918663CT7918663-
NM_000180.4(GUCY2D):c.2788G>A (p.Ala930Thr)3000GUCY2DUncertain significance-1RCV001968026; NMONDO:MONDO:0011143,MedGen:C1866293,OMIM:601777, Orphanet:1872; MONDO:MONDO:0008764,MedGen:C2931258,OMIM:204000, Orphanet:651779186647918664GA7918664-
NM_000180.4(GUCY2D):c.2795T>G (p.Met932Arg)3000GUCY2DUncertain significance-1RCV001361854; NMONDO:MONDO:0011143,MedGen:C1866293,OMIM:601777, Orphanet:1872; MONDO:MONDO:0008764,MedGen:C2931258,OMIM:204000, Orphanet:651779186717918671TG7918671-
NM_000180.4(GUCY2D):c.2802C>T (p.Ala934=)3000GUCY2DLikely benign-1RCV001458036; NMONDO:MONDO:0011143,MedGen:C1866293,OMIM:601777, Orphanet:1872; MONDO:MONDO:0008764,MedGen:C2931258,OMIM:204000, Orphanet:651779186787918678CT7918678-
NM_000180.4(GUCY2D):c.2804C>T (p.Ser935Leu)3000GUCY2DUncertain significance-1RCV001376296|RCV001865896; NMONDO:MONDO:0008764,MedGen:C2931258,OMIM:204000, Orphanet:65|MONDO:MONDO:0011143,MedGen:C1866293,OMIM:601777, Orphanet:1872; MONDO:MONDO:0008764,MedGen:C2931258,OMIM:204000, Orphanet:651779186807918680CT7918680-
NM_000180.4(GUCY2D):c.2811G>A (p.Leu937=)3000GUCY2DLikely benign-1RCV001985493; NMONDO:MONDO:0008764,MedGen:C2931258,OMIM:204000, Orphanet:65; MONDO:MONDO:0011143,MedGen:C1866293,OMIM:601777, Orphanet:18721779186877918687GA7918687-
NM_000180.4(GUCY2D):c.2830C>G (p.Arg944Gly)3000GUCY2DUncertain significancers756575304RCV001063536; NMONDO:MONDO:0011143,MedGen:C1866293,OMIM:601777, Orphanet:1872; MONDO:MONDO:0008764,MedGen:C2931258,OMIM:204000, Orphanet:651779187067918706CG17:g.7918706C>G-
NM_000180.4(GUCY2D):c.2831G>A (p.Arg944Gln)3000GUCY2DUncertain significance-1RCV001989964; NMONDO:MONDO:0008764,MedGen:C2931258,OMIM:204000, Orphanet:65; MONDO:MONDO:0011143,MedGen:C1866293,OMIM:601777, Orphanet:18721779187077918707GA7918707-
NM_000180.4(GUCY2D):c.2837C>A (p.Ala946Glu)3000GUCY2DUncertain significancers61750180RCV001052013|RCV001542698; NMONDO:MONDO:0011143,MedGen:C1866293,OMIM:601777, Orphanet:1872; MONDO:MONDO:0008764,MedGen:C2931258,OMIM:204000, Orphanet:65|MONDO:MONDO:0011143,MedGen:C1866293,OMIM:601777, Orphanet:18721779187137918713CA17:g.7918713C>A-
NM_000180.4(GUCY2D):c.2838G>A (p.Ala946=)3000GUCY2DLikely benign-1RCV002109835; NMONDO:MONDO:0011143,MedGen:C1866293,OMIM:601777, Orphanet:1872; MONDO:MONDO:0008764,MedGen:C2931258,OMIM:204000, Orphanet:651779187147918714GA7918714-
NM_000180.4(GUCY2D):c.2842G>A (p.Glu948Lys)3000GUCY2DUncertain significance-1RCV001886021; NMONDO:MONDO:0011143,MedGen:C1866293,OMIM:601777, Orphanet:1872; MONDO:MONDO:0008764,MedGen:C2931258,OMIM:204000, Orphanet:651779187187918718GA7918718-
NM_000180.4(GUCY2D):c.2846T>C (p.Ile949Thr)3000GUCY2DPathogenicrs267606857RCV000009953; NMONDO:MONDO:0011143,MedGen:C1866293,OMIM:601777, Orphanet:18721779187227918722TC17:g.7918722T>CClinGen:CA250578,UniProtKB:Q02846#VAR_071608,OMIM:600179.0010C1866293 601777 Cone-rod dystrophy 6;
NM_000180.4(GUCY2D):c.2850C>A (p.Ala950=)3000GUCY2DLikely benign-1RCV002215700; NMONDO:MONDO:0008764,MedGen:C2931258,OMIM:204000, Orphanet:65; MONDO:MONDO:0011143,MedGen:C1866293,OMIM:601777, Orphanet:18721779187267918726CA7918726-
NM_000180.4(GUCY2D):c.2871del (p.Ser958fs)3000GUCY2DPathogenic-1RCV001945092; NMONDO:MONDO:0011143,MedGen:C1866293,OMIM:601777, Orphanet:1872; MONDO:MONDO:0008764,MedGen:C2931258,OMIM:204000, Orphanet:651779187477918747TCT7918746-
NM_000180.4(GUCY2D):c.2875G>A (p.Ala959Thr)3000GUCY2DUncertain significancers768417052RCV001312864; NMONDO:MONDO:0011143,MedGen:C1866293,OMIM:601777, Orphanet:1872; MONDO:MONDO:0008764,MedGen:C2931258,OMIM:204000, Orphanet:651779187517918751GA7918751-
NM_000180.4(GUCY2D):c.2878G>A (p.Val960Met)3000GUCY2DUncertain significance-1RCV001882309; NMONDO:MONDO:0008764,MedGen:C2931258,OMIM:204000, Orphanet:65; MONDO:MONDO:0011143,MedGen:C1866293,OMIM:601777, Orphanet:18721779187547918754GA7918754-
NM_000180.4(GUCY2D):c.2881G>C (p.Gly961Arg)3000GUCY2DUncertain significance-1RCV001878112; NMONDO:MONDO:0011143,MedGen:C1866293,OMIM:601777, Orphanet:1872; MONDO:MONDO:0008764,MedGen:C2931258,OMIM:204000, Orphanet:651779187577918757GC7918757-
NM_000180.4(GUCY2D):c.2892C>G (p.Arg964=)3000GUCY2DLikely benignrs151052136RCV000920525; NMONDO:MONDO:0011143,MedGen:C1866293,OMIM:601777, Orphanet:1872; MONDO:MONDO:0008764,MedGen:C2931258,OMIM:204000, Orphanet:651779187687918768CG17:g.7918768C>G-
NM_000180.4(GUCY2D):c.2896C>G (p.Arg966Gly)3000GUCY2DUncertain significance-1RCV001971027; NMONDO:MONDO:0008764,MedGen:C2931258,OMIM:204000, Orphanet:65; MONDO:MONDO:0011143,MedGen:C1866293,OMIM:601777, Orphanet:18721779187727918772CG7918772-
NM_000180.4(GUCY2D):c.2904G>T (p.Met968Ile)3000GUCY2DUncertain significancers1975948376RCV001208607; NMONDO:MONDO:0011143,MedGen:C1866293,OMIM:601777, Orphanet:1872; MONDO:MONDO:0008764,MedGen:C2931258,OMIM:204000, Orphanet:651779187807918780GT17:g.7918780G>T-
NM_000180.4(GUCY2D):c.2917G>T (p.Val973Leu)3000GUCY2DBenignrs181567056RCV000921018; NMONDO:MONDO:0011143,MedGen:C1866293,OMIM:601777, Orphanet:1872; MONDO:MONDO:0008764,MedGen:C2931258,OMIM:204000, Orphanet:651779187937918793GT17:g.7918793G>T-
NM_000180.4(GUCY2D):c.2927G>T (p.Arg976Leu)3000GUCY2DUncertain significancers61750184RCV000084876|RCV000714548|RCV000714549|RCV000714550; NMedGen:CN517202|MONDO:MONDO:0011143,MedGen:C1866293,OMIM:601777, Orphanet:1872|MONDO:MONDO:0008764,MedGen:C2931258,OMIM:204000, Orphanet:65|MONDO:MONDO:0024539,MedGen:C4551884,OMIM:215500, Orphanet:753771779188037918803GT17:g.7918803G>TClinGen:CA226107CN517202 not provided;
NM_000180.4(GUCY2D):c.2928C>A (p.Arg976=)3000GUCY2DLikely benign-1RCV002156636; NMONDO:MONDO:0008764,MedGen:C2931258,OMIM:204000, Orphanet:65; MONDO:MONDO:0011143,MedGen:C1866293,OMIM:601777, Orphanet:18721779188047918804CA7918804-
NM_000180.4(GUCY2D):c.2928C>T (p.Arg976=)3000GUCY2DLikely benign-1RCV002177898; NMONDO:MONDO:0008764,MedGen:C2931258,OMIM:204000, Orphanet:65; MONDO:MONDO:0011143,MedGen:C1866293,OMIM:601777, Orphanet:18721779188047918804CT7918804-
NM_000180.4(GUCY2D):c.2933G>A (p.Gly978Asp)3000GUCY2DUncertain significance-1RCV001899526; NMONDO:MONDO:0011143,MedGen:C1866293,OMIM:601777, Orphanet:1872; MONDO:MONDO:0008764,MedGen:C2931258,OMIM:204000, Orphanet:651779188097918809GA7918809-
NM_000180.4(GUCY2D):c.2933G>T (p.Gly978Val)3000GUCY2DUncertain significance-1RCV002031673; NMONDO:MONDO:0008764,MedGen:C2931258,OMIM:204000, Orphanet:65; MONDO:MONDO:0011143,MedGen:C1866293,OMIM:601777, Orphanet:18721779188097918809GT7918809-
NM_000180.4(GUCY2D):c.2944+1del3000GUCY2DPathogenic/Likely pathogenicrs61750185RCV000084877|RCV001250850|RCV001381496; NMedGen:CN517202|MONDO:MONDO:0008764,MedGen:C2931258,OMIM:204000, Orphanet:65|MONDO:MONDO:0011143,MedGen:C1866293,OMIM:601777, Orphanet:1872; MONDO:MONDO:0008764,MedGen:C2931258,OMIM:204000, Orphanet:651779188197918819CGC17:g.7918819_7918819delClinGen:CA226109CN517202 not provided;
NM_000180.4(GUCY2D):c.2943G>A (p.Ser981=)3000GUCY2DUncertain significance-1RCV001946525; NMONDO:MONDO:0011143,MedGen:C1866293,OMIM:601777, Orphanet:1872; MONDO:MONDO:0008764,MedGen:C2931258,OMIM:204000, Orphanet:651779188197918819GA7918819-
NM_000180.4(GUCY2D):c.2944+9C>T3000GUCY2DLikely benign-1RCV001496918; NMONDO:MONDO:0011143,MedGen:C1866293,OMIM:601777, Orphanet:1872; MONDO:MONDO:0008764,MedGen:C2931258,OMIM:204000, Orphanet:651779188297918829CT7918829-
NM_000180.4(GUCY2D):c.2944+10G>C3000GUCY2DLikely benign-1RCV001454790; NMONDO:MONDO:0011143,MedGen:C1866293,OMIM:601777, Orphanet:1872; MONDO:MONDO:0008764,MedGen:C2931258,OMIM:204000, Orphanet:651779188307918830GC7918830-
NM_000180.4(GUCY2D):c.2944+15T>G3000GUCY2DLikely benign-1RCV001393379; NMONDO:MONDO:0008764,MedGen:C2931258,OMIM:204000, Orphanet:65; MONDO:MONDO:0011143,MedGen:C1866293,OMIM:601777, Orphanet:18721779188357918835TG7918835-
NM_000180.4(GUCY2D):c.2944+18C>T3000GUCY2DLikely benign-1RCV002159056; NMONDO:MONDO:0011143,MedGen:C1866293,OMIM:601777, Orphanet:1872; MONDO:MONDO:0008764,MedGen:C2931258,OMIM:204000, Orphanet:651779188387918838CT7918838-
NM_000180.4(GUCY2D):c.2945-20G>A3000GUCY2DLikely benign-1RCV001432372; NMONDO:MONDO:0011143,MedGen:C1866293,OMIM:601777, Orphanet:1872; MONDO:MONDO:0008764,MedGen:C2931258,OMIM:204000, Orphanet:651779190417919041GA7919041-
NM_000180.4(GUCY2D):c.2945-18C>G3000GUCY2DLikely benign-1RCV002176014; NMONDO:MONDO:0008764,MedGen:C2931258,OMIM:204000, Orphanet:65; MONDO:MONDO:0011143,MedGen:C1866293,OMIM:601777, Orphanet:18721779190437919043CG7919043-
NM_000180.4(GUCY2D):c.2945-15C>T3000GUCY2DLikely benign-1RCV002077733; NMONDO:MONDO:0011143,MedGen:C1866293,OMIM:601777, Orphanet:1872; MONDO:MONDO:0008764,MedGen:C2931258,OMIM:204000, Orphanet:651779190467919046CT7919046-
NM_000180.4(GUCY2D):c.2945-14C>T3000GUCY2DLikely benign-1RCV002219387; NMONDO:MONDO:0008764,MedGen:C2931258,OMIM:204000, Orphanet:65; MONDO:MONDO:0011143,MedGen:C1866293,OMIM:601777, Orphanet:18721779190477919047CT7919047-
NM_000180.4(GUCY2D):c.2945-7_2945-6del3000GUCY2DUncertain significancers754170656RCV001323456; NMONDO:MONDO:0011143,MedGen:C1866293,OMIM:601777, Orphanet:1872; MONDO:MONDO:0008764,MedGen:C2931258,OMIM:204000, Orphanet:651779190527919053ATCA7919051-
NM_000180.4(GUCY2D):c.2945-2A>C3000GUCY2DPathogenicrs1975955933RCV001170003; NMONDO:MONDO:0011143,MedGen:C1866293,OMIM:601777, Orphanet:18721779190597919059AC17:g.7919059A>C-
NM_000180.4(GUCY2D):c.2946T>C (p.Gly982=)3000GUCY2DLikely benign-1RCV002187251; NMONDO:MONDO:0008764,MedGen:C2931258,OMIM:204000, Orphanet:65; MONDO:MONDO:0011143,MedGen:C1866293,OMIM:601777, Orphanet:18721779190627919062TC7919062-
NM_000180.4(GUCY2D):c.2950T>C (p.Cys984Arg)3000GUCY2DUncertain significancers1975956164RCV001067300; NMONDO:MONDO:0011143,MedGen:C1866293,OMIM:601777, Orphanet:1872; MONDO:MONDO:0008764,MedGen:C2931258,OMIM:204000, Orphanet:651779190667919066TC17:g.7919066T>C-
NM_000180.4(GUCY2D):c.2961C>A (p.Gly987=)3000GUCY2DLikely benign-1RCV002147489; NMONDO:MONDO:0011143,MedGen:C1866293,OMIM:601777, Orphanet:1872; MONDO:MONDO:0008764,MedGen:C2931258,OMIM:204000, Orphanet:651779190777919077CA7919077-
NM_000180.4(GUCY2D):c.2988C>G (p.Tyr996Ter)3000GUCY2DPathogenicrs1975957350RCV001056225; NMONDO:MONDO:0011143,MedGen:C1866293,OMIM:601777, Orphanet:1872; MONDO:MONDO:0008764,MedGen:C2931258,OMIM:204000, Orphanet:651779191047919104CG17:g.7919104C>G-
NM_000180.4(GUCY2D):c.2999G>A (p.Gly1000Glu)3000GUCY2DUncertain significancers1598151461RCV000989744; NMONDO:MONDO:0011143,MedGen:C1866293,OMIM:601777, Orphanet:18721779191157919115GA17:g.7919115G>A-
NM_000180.4(GUCY2D):c.3005C>T (p.Thr1002Met)3000GUCY2DUncertain significance-1RCV001878022; NMONDO:MONDO:0008764,MedGen:C2931258,OMIM:204000, Orphanet:65; MONDO:MONDO:0011143,MedGen:C1866293,OMIM:601777, Orphanet:18721779191217919121CT7919121-
NM_000180.4(GUCY2D):c.3006G>A (p.Thr1002=)3000GUCY2DUncertain significance-1RCV002026885; NMONDO:MONDO:0011143,MedGen:C1866293,OMIM:601777, Orphanet:1872; MONDO:MONDO:0008764,MedGen:C2931258,OMIM:204000, Orphanet:651779191227919122GA7919122-
NM_000180.4(GUCY2D):c.3012C>T (p.Asn1004=)3000GUCY2DLikely benign-1RCV002120739; NMONDO:MONDO:0008764,MedGen:C2931258,OMIM:204000, Orphanet:65; MONDO:MONDO:0011143,MedGen:C1866293,OMIM:601777, Orphanet:18721779191287919128CT7919128-
NM_000180.4(GUCY2D):c.3014C>T (p.Thr1005Ile)3000GUCY2DUncertain significancers150185423RCV001053306; NMONDO:MONDO:0008764,MedGen:C2931258,OMIM:204000, Orphanet:65; MONDO:MONDO:0011143,MedGen:C1866293,OMIM:601777, Orphanet:18721779191307919130CT17:g.7919130C>T-
NM_000180.4(GUCY2D):c.3036C>T (p.Thr1012=)3000GUCY2DLikely benign-1RCV001417019; NMONDO:MONDO:0011143,MedGen:C1866293,OMIM:601777, Orphanet:1872; MONDO:MONDO:0008764,MedGen:C2931258,OMIM:204000, Orphanet:651779191527919152CT7919152-
NM_000180.4(GUCY2D):c.3037G>A (p.Gly1013Arg)3000GUCY2DPathogenicrs868612148RCV001250854|RCV001879810; NMONDO:MONDO:0008764,MedGen:C2931258,OMIM:204000, Orphanet:65|MONDO:MONDO:0008764,MedGen:C2931258,OMIM:204000, Orphanet:65; MONDO:MONDO:0011143,MedGen:C1866293,OMIM:601777, Orphanet:18721779191537919153GA17:g.7919153G>A-
NM_000180.4(GUCY2D):c.3042G>A (p.Leu1014=)3000GUCY2DUncertain significancers139019420RCV001240762; NMONDO:MONDO:0011143,MedGen:C1866293,OMIM:601777, Orphanet:1872; MONDO:MONDO:0008764,MedGen:C2931258,OMIM:204000, Orphanet:651779191587919158GA17:g.7919158G>A-
NM_000180.4(GUCY2D):c.3043+11C>T3000GUCY2DBenign/Likely benignrs116870332RCV001517916|RCV001550601; NMONDO:MONDO:0011143,MedGen:C1866293,OMIM:601777, Orphanet:1872; MONDO:MONDO:0008764,MedGen:C2931258,OMIM:204000, Orphanet:65|MedGen:CN5172021779191707919170CT7919170-
NM_000180.4(GUCY2D):c.3043+14G>A3000GUCY2DLikely benign-1RCV002092269; NMONDO:MONDO:0011143,MedGen:C1866293,OMIM:601777, Orphanet:1872; MONDO:MONDO:0008764,MedGen:C2931258,OMIM:204000, Orphanet:651779191737919173GA7919173-
NM_000180.4(GUCY2D):c.3043+20G>C3000GUCY2DBenignrs78844078RCV000244979|RCV001518413|RCV001689780; NMedGen:CN169374|MONDO:MONDO:0008764,MedGen:C2931258,OMIM:204000, Orphanet:65; MONDO:MONDO:0011143,MedGen:C1866293,OMIM:601777, Orphanet:1872|MedGen:CN5172021779191797919179GCNC_000017.10:g.7919179G>CClinGen:CA8366289CN169374 not specified;
NM_000180.4(GUCY2D):c.3044-7G>T3000GUCY2DBenignrs56348143RCV000250378|RCV000534874|RCV001675685; NMedGen:CN169374|MONDO:MONDO:0008764,MedGen:C2931258,OMIM:204000, Orphanet:65; MONDO:MONDO:0011143,MedGen:C1866293,OMIM:601777, Orphanet:1872|MedGen:CN5172021779192387919238GTNC_000017.10:g.7919238G>TClinGen:CA8366302C1866293 601777 Cone-rod dystrophy 6;
NM_000180.4(GUCY2D):c.3051C>G (p.Arg1017=)3000GUCY2DLikely benign-1RCV001416192; NMONDO:MONDO:0011143,MedGen:C1866293,OMIM:601777, Orphanet:1872; MONDO:MONDO:0008764,MedGen:C2931258,OMIM:204000, Orphanet:651779192527919252CG7919252-
NM_000180.4(GUCY2D):c.3054C>A (p.Ile1018=)3000GUCY2DLikely benign-1RCV002166734; NMONDO:MONDO:0011143,MedGen:C1866293,OMIM:601777, Orphanet:1872; MONDO:MONDO:0008764,MedGen:C2931258,OMIM:204000, Orphanet:651779192557919255CA7919255-
NM_000180.4(GUCY2D):c.3057C>T (p.His1019=)3000GUCY2DLikely benign-1RCV001501926; NMONDO:MONDO:0011143,MedGen:C1866293,OMIM:601777, Orphanet:1872; MONDO:MONDO:0008764,MedGen:C2931258,OMIM:204000, Orphanet:651779192587919258CT7919258-
NM_000180.4(GUCY2D):c.3065T>A (p.Leu1022Ter)3000GUCY2DPathogenicrs866511152RCV001071718; NMONDO:MONDO:0011143,MedGen:C1866293,OMIM:601777, Orphanet:1872; MONDO:MONDO:0008764,MedGen:C2931258,OMIM:204000, Orphanet:651779192667919266TA17:g.7919266T>A-
NM_000180.4(GUCY2D):c.3065T>G (p.Leu1022Trp)3000GUCY2DUncertain significance-1RCV001367680; NMONDO:MONDO:0008764,MedGen:C2931258,OMIM:204000, Orphanet:65; MONDO:MONDO:0011143,MedGen:C1866293,OMIM:601777, Orphanet:18721779192667919266TG7919266-
NM_000180.4(GUCY2D):c.3084C>G (p.Leu1028=)3000GUCY2DLikely benign-1RCV001415745; NMONDO:MONDO:0008764,MedGen:C2931258,OMIM:204000, Orphanet:65; MONDO:MONDO:0011143,MedGen:C1866293,OMIM:601777, Orphanet:18721779192857919285CG7919285-
NM_000180.4(GUCY2D):c.3098C>T (p.Ser1033Leu)3000GUCY2DConflicting interpretations of pathogenicityrs146149224RCV000585411|RCV001083338; NMedGen:CN517202|MONDO:MONDO:0008764,MedGen:C2931258,OMIM:204000, Orphanet:65; MONDO:MONDO:0011143,MedGen:C1866293,OMIM:601777, Orphanet:18721779192997919299CT17:g.7919299C>TClinGen:CA240817CN517202 not provided;
NM_000180.4(GUCY2D):c.3102C>T (p.Gly1034=)3000GUCY2DLikely benign-1RCV001452472; NMONDO:MONDO:0011143,MedGen:C1866293,OMIM:601777, Orphanet:1872; MONDO:MONDO:0008764,MedGen:C2931258,OMIM:204000, Orphanet:651779193037919303CT7919303-
NM_000180.4(GUCY2D):c.3105C>G (p.Tyr1035Ter)3000GUCY2DPathogenic-1RCV001389184; NMONDO:MONDO:0011143,MedGen:C1866293,OMIM:601777, Orphanet:1872; MONDO:MONDO:0008764,MedGen:C2931258,OMIM:204000, Orphanet:651779193067919306CG7919306-
NM_000180.4(GUCY2D):c.3106C>A (p.Gln1036Lys)3000GUCY2DUncertain significancers61750192RCV001342599; NMONDO:MONDO:0008764,MedGen:C2931258,OMIM:204000, Orphanet:65; MONDO:MONDO:0011143,MedGen:C1866293,OMIM:601777, Orphanet:18721779193077919307CA7919307-
NM_000180.4(GUCY2D):c.3122G>A (p.Gly1041Asp)3000GUCY2DUncertain significancers1975964730RCV001349545; NMONDO:MONDO:0008764,MedGen:C2931258,OMIM:204000, Orphanet:65; MONDO:MONDO:0011143,MedGen:C1866293,OMIM:601777, Orphanet:18721779193237919323GA7919323-
NM_000180.4(GUCY2D):c.3128C>T (p.Thr1043Met)3000GUCY2DUncertain significance-1RCV001944911; NMONDO:MONDO:0011143,MedGen:C1866293,OMIM:601777, Orphanet:1872; MONDO:MONDO:0008764,MedGen:C2931258,OMIM:204000, Orphanet:651779193297919329CT7919329-
NM_000180.4(GUCY2D):c.3129G>A (p.Thr1043=)3000GUCY2DLikely benign-1RCV001455538; NMONDO:MONDO:0011143,MedGen:C1866293,OMIM:601777, Orphanet:1872; MONDO:MONDO:0008764,MedGen:C2931258,OMIM:204000, Orphanet:651779193307919330GA7919330-
NM_000180.4(GUCY2D):c.3138+6G>T3000GUCY2DUncertain significancers937146348RCV001227982; NMONDO:MONDO:0008764,MedGen:C2931258,OMIM:204000, Orphanet:65; MONDO:MONDO:0011143,MedGen:C1866293,OMIM:601777, Orphanet:18721779193457919345GT17:g.7919345G>T-
NM_000180.4(GUCY2D):c.3139-6C>A3000GUCY2DUncertain significance-1RCV001880348; NMONDO:MONDO:0008764,MedGen:C2931258,OMIM:204000, Orphanet:65; MONDO:MONDO:0011143,MedGen:C1866293,OMIM:601777, Orphanet:18721779195177919517CA7919517-
NM_000180.4(GUCY2D):c.3139-3C>G3000GUCY2DUncertain significancers771769796RCV001299490; NMONDO:MONDO:0008764,MedGen:C2931258,OMIM:204000, Orphanet:65; MONDO:MONDO:0011143,MedGen:C1866293,OMIM:601777, Orphanet:18721779195207919520CG7919520-
NM_000180.4(GUCY2D):c.3144G>A (p.Lys1048=)3000GUCY2DLikely benign-1RCV001401774; NMONDO:MONDO:0011143,MedGen:C1866293,OMIM:601777, Orphanet:1872; MONDO:MONDO:0008764,MedGen:C2931258,OMIM:204000, Orphanet:651779195287919528GA7919528-
NM_000180.4(GUCY2D):c.3148G>T (p.Ala1050Ser)3000GUCY2DUncertain significance-1RCV001954090; NMONDO:MONDO:0011143,MedGen:C1866293,OMIM:601777, Orphanet:1872; MONDO:MONDO:0008764,MedGen:C2931258,OMIM:204000, Orphanet:651779195327919532GT7919532-
NM_000180.4(GUCY2D):c.3151G>A (p.Glu1051Lys)3000GUCY2DUncertain significance-1RCV001921988; NMONDO:MONDO:0008764,MedGen:C2931258,OMIM:204000, Orphanet:65; MONDO:MONDO:0011143,MedGen:C1866293,OMIM:601777, Orphanet:18721779195357919535GA7919535-
NM_000180.4(GUCY2D):c.3167T>C (p.Leu1056Pro)3000GUCY2DUncertain significance-1RCV002010093; NMONDO:MONDO:0011143,MedGen:C1866293,OMIM:601777, Orphanet:1872; MONDO:MONDO:0008764,MedGen:C2931258,OMIM:204000, Orphanet:651779195517919551TC7919551-
NM_000180.4(GUCY2D):c.3175A>G (p.Arg1059Gly)3000GUCY2DUncertain significancers878853342RCV001320637; NMONDO:MONDO:0011143,MedGen:C1866293,OMIM:601777, Orphanet:1872; MONDO:MONDO:0008764,MedGen:C2931258,OMIM:204000, Orphanet:651779195597919559AG7919559-
NM_000180.4(GUCY2D):c.3179G>A (p.Arg1060His)3000GUCY2DUncertain significance-1RCV001934607; NMONDO:MONDO:0011143,MedGen:C1866293,OMIM:601777, Orphanet:1872; MONDO:MONDO:0008764,MedGen:C2931258,OMIM:204000, Orphanet:651779195637919563GA7919563-
NM_000180.4(GUCY2D):c.3188A>G (p.Asn1063Ser)3000GUCY2DUncertain significancers1975972260RCV001231078; NMONDO:MONDO:0011143,MedGen:C1866293,OMIM:601777, Orphanet:1872; MONDO:MONDO:0008764,MedGen:C2931258,OMIM:204000, Orphanet:651779195727919572AG17:g.7919572A>G-
NM_000180.4(GUCY2D):c.3195C>G (p.Pro1065=)3000GUCY2DLikely benign-1RCV001963349; NMONDO:MONDO:0008764,MedGen:C2931258,OMIM:204000, Orphanet:65; MONDO:MONDO:0011143,MedGen:C1866293,OMIM:601777, Orphanet:18721779195797919579CG7919579-
NM_000180.4(GUCY2D):c.3205C>T (p.Pro1069Ser)3000GUCY2DUncertain significance-1RCV002032332; NMONDO:MONDO:0011143,MedGen:C1866293,OMIM:601777, Orphanet:1872; MONDO:MONDO:0008764,MedGen:C2931258,OMIM:204000, Orphanet:651779195897919589CT7919589-
NM_000180.4(GUCY2D):c.3220C>T (p.Pro1074Ser)3000GUCY2DUncertain significancers138869083RCV001346709; NMONDO:MONDO:0011143,MedGen:C1866293,OMIM:601777, Orphanet:1872; MONDO:MONDO:0008764,MedGen:C2931258,OMIM:204000, Orphanet:651779196047919604CT7919604-
NM_000180.4(GUCY2D):c.3224+1G>C3000GUCY2DPathogenicrs757823463RCV000704819|RCV001729691; NMONDO:MONDO:0011143,MedGen:C1866293,OMIM:601777, Orphanet:1872; MONDO:MONDO:0008764,MedGen:C2931258,OMIM:204000, Orphanet:65|MONDO:MONDO:0008764,MedGen:C2931258,OMIM:204000, Orphanet:651779196097919609GCNC_000017.10:g.7919609G>C-C1866293 601777 Cone-rod dystrophy 6;
NM_000180.4(GUCY2D):c.3224+3G>T3000GUCY2DUncertain significancers1258995063RCV001250882|RCV001879811; NMONDO:MONDO:0008764,MedGen:C2931258,OMIM:204000, Orphanet:65|MONDO:MONDO:0008764,MedGen:C2931258,OMIM:204000, Orphanet:65; MONDO:MONDO:0011143,MedGen:C1866293,OMIM:601777, Orphanet:18721779196117919611GT17:g.7919611G>T-
NM_000180.4(GUCY2D):c.3224+7G>A3000GUCY2DLikely benign-1RCV002144614; NMONDO:MONDO:0011143,MedGen:C1866293,OMIM:601777, Orphanet:1872; MONDO:MONDO:0008764,MedGen:C2931258,OMIM:204000, Orphanet:651779196157919615GA7919615-
NM_000180.4(GUCY2D):c.3224+10C>T3000GUCY2DLikely benign-1RCV002075410; NMONDO:MONDO:0008764,MedGen:C2931258,OMIM:204000, Orphanet:65; MONDO:MONDO:0011143,MedGen:C1866293,OMIM:601777, Orphanet:18721779196187919618CT7919618-
NM_000180.4(GUCY2D):c.3225-15G>A3000GUCY2DLikely benign-1RCV002207408; NMONDO:MONDO:0008764,MedGen:C2931258,OMIM:204000, Orphanet:65; MONDO:MONDO:0011143,MedGen:C1866293,OMIM:601777, Orphanet:18721779197467919746GA7919746-
NM_000180.4(GUCY2D):c.3225-10del3000GUCY2DBenign-1RCV001510611; NMONDO:MONDO:0008764,MedGen:C2931258,OMIM:204000, Orphanet:65; MONDO:MONDO:0011143,MedGen:C1866293,OMIM:601777, Orphanet:18721779197477919747GCG7919746-
NM_000180.4(GUCY2D):c.3225-14C>A3000GUCY2DLikely benign-1RCV002135325; NMONDO:MONDO:0011143,MedGen:C1866293,OMIM:601777, Orphanet:1872; MONDO:MONDO:0008764,MedGen:C2931258,OMIM:204000, Orphanet:651779197477919747CA7919747-
NM_000180.4(GUCY2D):c.3225-12C>G3000GUCY2DLikely benign-1RCV002150113; NMONDO:MONDO:0011143,MedGen:C1866293,OMIM:601777, Orphanet:1872; MONDO:MONDO:0008764,MedGen:C2931258,OMIM:204000, Orphanet:651779197497919749CG7919749-
NM_000180.4(GUCY2D):c.3225-11C>T3000GUCY2DLikely benign-1RCV002137111; NMONDO:MONDO:0008764,MedGen:C2931258,OMIM:204000, Orphanet:65; MONDO:MONDO:0011143,MedGen:C1866293,OMIM:601777, Orphanet:18721779197507919750CT7919750-
NM_000180.4(GUCY2D):c.3225-10C>T3000GUCY2DBenignrs200705417RCV000950345; NMONDO:MONDO:0011143,MedGen:C1866293,OMIM:601777, Orphanet:1872; MONDO:MONDO:0008764,MedGen:C2931258,OMIM:204000, Orphanet:651779197517919751CT17:g.7919751C>T-
NM_000180.4(GUCY2D):c.3225-7C>T3000GUCY2DBenign/Likely benignrs79887212RCV000175391|RCV000549770|RCV001561624; NMedGen:CN169374|MONDO:MONDO:0011143,MedGen:C1866293,OMIM:601777, Orphanet:1872; MONDO:MONDO:0008764,MedGen:C2931258,OMIM:204000, Orphanet:65|MedGen:CN5172021779197547919754CT17:g.7919754C>TClinGen:CA201437C1866293 601777 Cone-rod dystrophy 6;
NM_000180.4(GUCY2D):c.3229A>G (p.Ser1077Gly)3000GUCY2DUncertain significance-1RCV001890471; NMONDO:MONDO:0008764,MedGen:C2931258,OMIM:204000, Orphanet:65; MONDO:MONDO:0011143,MedGen:C1866293,OMIM:601777, Orphanet:18721779197657919765AG7919765-
NM_000180.4(GUCY2D):c.3238G>C (p.Gly1080Arg)3000GUCY2DUncertain significancers371919912RCV001240481; NMONDO:MONDO:0008764,MedGen:C2931258,OMIM:204000, Orphanet:65; MONDO:MONDO:0011143,MedGen:C1866293,OMIM:601777, Orphanet:18721779197747919774GC17:g.7919774G>C-
NM_000180.4(GUCY2D):c.3245G>C (p.Ser1082Thr)3000GUCY2DUncertain significance-1RCV001903308; NMONDO:MONDO:0011143,MedGen:C1866293,OMIM:601777, Orphanet:1872; MONDO:MONDO:0008764,MedGen:C2931258,OMIM:204000, Orphanet:651779197817919781GC7919781-
NM_000180.4(GUCY2D):c.3246C>T (p.Ser1082=)3000GUCY2DBenignrs374580575RCV000960692; NMONDO:MONDO:0008764,MedGen:C2931258,OMIM:204000, Orphanet:65; MONDO:MONDO:0011143,MedGen:C1866293,OMIM:601777, Orphanet:18721779197827919782CT17:g.7919782C>T-
NM_000180.4(GUCY2D):c.3265G>A (p.Glu1089Lys)3000GUCY2DUncertain significancers779735498RCV001339738; NMONDO:MONDO:0011143,MedGen:C1866293,OMIM:601777, Orphanet:1872; MONDO:MONDO:0008764,MedGen:C2931258,OMIM:204000, Orphanet:651779198017919801GA7919801-
NM_000180.4(GUCY2D):c.3269G>A (p.Arg1090Gln)3000GUCY2DUncertain significance-1RCV001365268; NMONDO:MONDO:0011143,MedGen:C1866293,OMIM:601777, Orphanet:1872; MONDO:MONDO:0008764,MedGen:C2931258,OMIM:204000, Orphanet:651779198057919805GA7919805-
NM_000180.4(GUCY2D):c.3272G>A (p.Arg1091Gln)3000GUCY2DUncertain significance-1RCV001891777; NMONDO:MONDO:0011143,MedGen:C1866293,OMIM:601777, Orphanet:1872; MONDO:MONDO:0008764,MedGen:C2931258,OMIM:204000, Orphanet:651779198087919808GA7919808-
NM_000180.4(GUCY2D):c.3274C>T (p.Arg1092Trp)3000GUCY2DUncertain significancers746525316RCV001230358; NMONDO:MONDO:0011143,MedGen:C1866293,OMIM:601777, Orphanet:1872; MONDO:MONDO:0008764,MedGen:C2931258,OMIM:204000, Orphanet:651779198107919810CT17:g.7919810C>T-
NM_000180.4(GUCY2D):c.3274C>A (p.Arg1092=)3000GUCY2DLikely benign-1RCV002176220; NMONDO:MONDO:0011143,MedGen:C1866293,OMIM:601777, Orphanet:1872; MONDO:MONDO:0008764,MedGen:C2931258,OMIM:204000, Orphanet:651779198107919810CA7919810-
NM_000180.4(GUCY2D):c.3282G>A (p.Leu1094=)3000GUCY2DLikely benign-1RCV001453763; NMONDO:MONDO:0011143,MedGen:C1866293,OMIM:601777, Orphanet:1872; MONDO:MONDO:0008764,MedGen:C2931258,OMIM:204000, Orphanet:651779198187919818GA7919818-
NM_000180.4(GUCY2D):c.3283G>A (p.Glu1095Lys)3000GUCY2DUncertain significance-1RCV002042880; NMONDO:MONDO:0011143,MedGen:C1866293,OMIM:601777, Orphanet:1872; MONDO:MONDO:0008764,MedGen:C2931258,OMIM:204000, Orphanet:651779198197919819GA7919819-
NM_000180.4(GUCY2D):c.3291G>A (p.Ala1097=)3000GUCY2DLikely benign-1RCV002133476; NMONDO:MONDO:0011143,MedGen:C1866293,OMIM:601777, Orphanet:1872; MONDO:MONDO:0008764,MedGen:C2931258,OMIM:204000, Orphanet:651779198277919827GA7919827-
NM_000180.4(GUCY2D):c.3292C>T (p.Arg1098Trp)3000GUCY2DUncertain significancers776624188RCV001213703; NMONDO:MONDO:0011143,MedGen:C1866293,OMIM:601777, Orphanet:1872; MONDO:MONDO:0008764,MedGen:C2931258,OMIM:204000, Orphanet:651779198287919828CT17:g.7919828C>T-
NM_000180.4(GUCY2D):c.3292C>G (p.Arg1098Gly)3000GUCY2DUncertain significancers776624188RCV001325775; NMONDO:MONDO:0011143,MedGen:C1866293,OMIM:601777, Orphanet:1872; MONDO:MONDO:0008764,MedGen:C2931258,OMIM:204000, Orphanet:651779198287919828CG7919828-
NM_000180.4(GUCY2D):c.3297G>A (p.Pro1099=)3000GUCY2DBenign/Likely benignrs142351773RCV000175392|RCV000528175|RCV001557471; NMedGen:CN169374|MONDO:MONDO:0011143,MedGen:C1866293,OMIM:601777, Orphanet:1872; MONDO:MONDO:0008764,MedGen:C2931258,OMIM:204000, Orphanet:65|MedGen:CN5172021779198337919833GA17:g.7919833G>AClinGen:CA201438C1866293 601777 Cone-rod dystrophy 6;
NM_000180.4(GUCY2D):c.3311G>C (p.Ter1104Ser)3000GUCY2DUncertain significance-1RCV002020367; NMONDO:MONDO:0011143,MedGen:C1866293,OMIM:601777, Orphanet:1872; MONDO:MONDO:0008764,MedGen:C2931258,OMIM:204000, Orphanet:651779198477919847GC7919847-
NM_133497.4(KCNV2):c.944_973del (p.Leu315_Thr324del)169522KCNV2Uncertain significancers1819796278RCV001271077; NMONDO:MONDO:0011143,MedGen:C1866293,OMIM:601777, Orphanet:1872927186782718707TCACGCTCGAGTACCTGCTGCGCCTAGCCTCT9:g.2718678_2718707del-
MSeqDR Portal