MSeqDR Mitochondrial Disease Portal


 
*:HP: HPO terms, UMDF: 1= Disease, ND: NAMDC terms.
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Disease Browser
Parent Node:
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Retinitis Pigmentosa (D012174)
..Starting node
..expand
Newfoundland Rod-Cone Dystrophy (C564391)

       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:8906
Name:Newfoundland Rod-Cone Dystrophy
Definition:
Alternative IDs:OMIM:607476
ParentIDs:MESH:D012174
TreeNumbers:C11.270.684/C564391 |C11.768.585.658.500/C564391 |C16.320.290.684/C564391
Synonyms:NFRCD
Slim Mappings:Eye disease|Genetic disease (inborn)
Reference: MedGen: C564391
MeSH: C564391
OMIM: 607476;
MSeqDR LSDB:  
Genes: PHGDH; RLBP1;
Phenotypes
1 HP:0000007Autosomal recessive inheritance
2 HP:0000551Abnormality of color vision
3 HP:0000662Nyctalopia Infantile onset
4 HP:0000556Retinal dystrophy
5 HP:0000575Scotoma
6 HP:0000505Visual impairment
Disease Causing ClinVar Variants
Variation_NameGeneIDGeneSymbolClinicalSignificancedbSNPRCVaccessionTestedInGTRPhenotypeIDsChromosomeStartStopHGVS_cHGVS_pHGVS_gOtherIDsDisease_ClinVar
NM_000326.5(RLBP1):c.*356G>A6017RLBP1Conflicting interpretations of pathogenicityrs190236976RCV000271341|RCV000301674|RCV000365778; NHuman Phenotype Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000, Orphanet:791|MONDO:MONDO:0011839,MedGen:C1843815,OMIM:607476|Human Phenotype Ontology:HP:0030642,MONDO:MONDO:0007639,MedGen:C0311338,OMIM:1368158975316089753160CTNC_000015.9:g.89753160C>TClinGen:CA10636608C1843815 607476 Newfoundland rod-cone dystrophy;
NM_000326.5(RLBP1):c.*334T>C6017RLBP1Uncertain significancers886051500RCV000277300|RCV000326353|RCV000381088; NMONDO:MONDO:0011839,MedGen:C1843815,OMIM:607476|Human Phenotype Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000, Orphanet:791|Human Phenotype Ontology:HP:0030642,MONDO:MONDO:0007639,MedGen:C0311338,OMIM:1368158975318289753182AGNC_000015.9:g.89753182A>GClinGen:CA10636611C1843815 607476 Newfoundland rod-cone dystrophy;
NM_000326.5(RLBP1):c.*322C>T6017RLBP1Benignrs8039787RCV000293940|RCV000332361|RCV000386918; NHuman Phenotype Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000, Orphanet:791|MONDO:MONDO:0011839,MedGen:C1843815,OMIM:607476|Human Phenotype Ontology:HP:0030642,MONDO:MONDO:0007639,MedGen:C0311338,OMIM:1368158975319489753194GANC_000015.9:g.89753194G>AClinGen:CA10646665C1843815 607476 Newfoundland rod-cone dystrophy;
NM_000326.5(RLBP1):c.*301T>A6017RLBP1Uncertain significancers2051522830RCV001118578|RCV001118577|RCV001118579; NMONDO:MONDO:0011839,MedGen:C1843815,OMIM:607476|Human Phenotype Ontology:HP:0030642,MONDO:MONDO:0007639,MedGen:C0311338,OMIM:136880, Orphanet:227796, Orphanet:52427|Human Phenotype Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:158975321589753215AT15:g.89753215A>T-
NM_000326.5(RLBP1):c.*296G>A6017RLBP1Benignrs2710RCV000278579|RCV000337178|RCV000375422|RCV001718659; NHuman Phenotype Ontology:HP:0030642,MONDO:MONDO:0007639,MedGen:C0311338,OMIM:136880, Orphanet:227796, Orphanet:52427|MONDO:MONDO:0011839,MedGen:C1843815,OMIM:607476|Human Phenotype Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:158975322089753220CTNC_000015.9:g.89753220C>TClinGen:CA10647442C1843815 607476 Newfoundland rod-cone dystrophy;
NM_000326.5(RLBP1):c.*217A>C6017RLBP1Conflicting interpretations of pathogenicityrs150636501RCV001120116|RCV001120117|RCV001120115; NHuman Phenotype Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000, Orphanet:791|MONDO:MONDO:0011839,MedGen:C1843815,OMIM:607476|Human Phenotype Ontology:HP:0030642,MONDO:MONDO:0007639,MedGen:C0311338,OMIM:1368158975329989753299TG15:g.89753299T>G-
NM_000326.5(RLBP1):c.*212G>A6017RLBP1Uncertain significancers1281765664RCV001120405|RCV001120404|RCV001120118; NMONDO:MONDO:0011839,MedGen:C1843815,OMIM:607476|Human Phenotype Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000, Orphanet:791|Human Phenotype Ontology:HP:0030642,MONDO:MONDO:0007639,MedGen:C0311338,OMIM:1368158975330489753304CT15:g.89753304C>T-
NM_000326.5(RLBP1):c.*167T>G6017RLBP1Benignrs834RCV000308961|RCV000339263|RCV000395042|RCV001690058; NMONDO:MONDO:0011839,MedGen:C1843815,OMIM:607476|Human Phenotype Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000, Orphanet:791|Human Phenotype Ontology:HP:0030642,MONDO:MONDO:0007639,MedGen:C0311338,OMIM:1368158975334989753349ACNC_000015.9:g.89753349A>CClinGen:CA10646667C1843815 607476 Newfoundland rod-cone dystrophy;
NM_000326.5(RLBP1):c.*135G>A6017RLBP1Uncertain significancers2051524190RCV001115514|RCV001115515|RCV001115516; NHuman Phenotype Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000, Orphanet:791|MONDO:MONDO:0011839,MedGen:C1843815,OMIM:607476|Human Phenotype Ontology:HP:0030642,MONDO:MONDO:0007639,MedGen:C0311338,OMIM:1368158975338189753381CT15:g.89753381C>T-
NM_000326.5(RLBP1):c.924C>G (p.Pro308=)6017RLBP1Conflicting interpretations of pathogenicityrs144615495RCV000307440|RCV000365727|RCV000401519|RCV000898905; NHuman Phenotype Ontology:HP:0030642,MONDO:MONDO:0007639,MedGen:C0311338,OMIM:136880, Orphanet:227796, Orphanet:52427|MONDO:MONDO:0011839,MedGen:C1843815,OMIM:607476|Human Phenotype Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:158975354689753546GCNC_000015.9:g.89753546G>CClinGen:CA7722142C1843815 607476 Newfoundland rod-cone dystrophy;
NM_000326.5(RLBP1):c.924C>A (p.Pro308=)6017RLBP1Conflicting interpretations of pathogenicityrs144615495RCV001115518|RCV001115517|RCV001116936|RCV001497408; NHuman Phenotype Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000, Orphanet:791|MONDO:MONDO:0011839,MedGen:C1843815,OMIM:607476|Human Phenotype Ontology:HP:0030642,MONDO:MONDO:0007639,MedGen:C0311338,OMIM:1368158975354689753546GT15:g.89753546G>T-
NM_000326.5(RLBP1):c.807C>T (p.His269=)6017RLBP1Conflicting interpretations of pathogenicityrs62640017RCV000277113|RCV000329872|RCV000368076|RCV000906619; NHuman Phenotype Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000, Orphanet:791|MONDO:MONDO:0011839,MedGen:C1843815,OMIM:607476|Human Phenotype Ontology:HP:0030642,MONDO:MONDO:0007639,MedGen:C0311338,OMIM:1368158975366389753663GANC_000015.9:g.89753663G>AClinGen:CA7722166C1843815 607476 Newfoundland rod-cone dystrophy;
NM_000326.5(RLBP1):c.796-6C>T6017RLBP1Conflicting interpretations of pathogenicityrs201866933RCV000261796|RCV000316533|RCV000373444|RCV000904552; NHuman Phenotype Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000, Orphanet:791|MONDO:MONDO:0011839,MedGen:C1843815,OMIM:607476|Human Phenotype Ontology:HP:0030642,MONDO:MONDO:0007639,MedGen:C0311338,OMIM:1368158975368089753680GANC_000015.9:g.89753680G>AClinGen:CA7722170C1843815 607476 Newfoundland rod-cone dystrophy;
NM_000326.5(RLBP1):c.796-7C>G6017RLBP1Conflicting interpretations of pathogenicityrs74029958RCV000286075|RCV000324799|RCV000377048|RCV000965306; NHuman Phenotype Ontology:HP:0030642,MONDO:MONDO:0007639,MedGen:C0311338,OMIM:136880, Orphanet:227796, Orphanet:52427|MONDO:MONDO:0011839,MedGen:C1843815,OMIM:607476|Human Phenotype Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:158975368189753681GCNC_000015.9:g.89753681G>CClinGen:CA7722171C1843815 607476 Newfoundland rod-cone dystrophy;
NM_000326.5(RLBP1):c.795+15C>T6017RLBP1Conflicting interpretations of pathogenicityrs181863443RCV000284563|RCV000346536|RCV000394745|RCV001000612|RCV001509871; NMONDO:MONDO:0011839,MedGen:C1843815,OMIM:607476|Human Phenotype Ontology:HP:0030642,MONDO:MONDO:0007639,MedGen:C0311338,OMIM:136880, Orphanet:227796, Orphanet:52427|Human Phenotype Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:158975391589753915GA15:g.89753915G>AClinGen:CA7722190C1843815 607476 Newfoundland rod-cone dystrophy;
NM_000326.5(RLBP1):c.647G>A (p.Arg216Gln)6017RLBP1Uncertain significancers200488706RCV000288558|RCV000315538|RCV000367656|RCV001230359; NHuman Phenotype Ontology:HP:0030642,MONDO:MONDO:0007639,MedGen:C0311338,OMIM:136880, Orphanet:227796, Orphanet:52427|MONDO:MONDO:0011839,MedGen:C1843815,OMIM:607476|Human Phenotype Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:158975501189755011CTNC_000015.9:g.89755011C>TClinGen:CA7722230C1843815 607476 Newfoundland rod-cone dystrophy;
NM_000326.5(RLBP1):c.626T>C (p.Met209Thr)6017RLBP1Uncertain significancers775355367RCV001115608|RCV001115609|RCV001115610; NHuman Phenotype Ontology:HP:0030642,MONDO:MONDO:0007639,MedGen:C0311338,OMIM:136880, Orphanet:227796, Orphanet:52427|MONDO:MONDO:0011839,MedGen:C1843815,OMIM:607476|Human Phenotype Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:158975503289755032AG15:g.89755032A>G-
NM_000326.5(RLBP1):c.545T>G (p.Phe182Cys)6017RLBP1Uncertain significancers142244640RCV000300142|RCV000357376|RCV000343652|RCV000399933; NHuman Phenotype Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000, Orphanet:791|MONDO:MONDO:0011839,MedGen:C1843815,OMIM:607476|MedGen:CN517202|Human Phenotype Ontology:HP:0030642,MONDO:MONDO:0007639,MedGen:C0158975511389755113AC15:g.89755113A>CClinGen:CA7722243C1843815 607476 Newfoundland rod-cone dystrophy;
NM_000326.5(RLBP1):c.526-4C>T6017RLBP1Uncertain significancers1200459832RCV001117034|RCV001117035|RCV001117036; NHuman Phenotype Ontology:HP:0030642,MONDO:MONDO:0007639,MedGen:C0311338,OMIM:136880, Orphanet:227796, Orphanet:52427|MONDO:MONDO:0011839,MedGen:C1843815,OMIM:607476|Human Phenotype Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:158975513689755136GA15:g.89755136G>A-
NM_000326.5(RLBP1):c.353T>G (p.Val118Gly)6017RLBP1Uncertain significancers762121817RCV000259329|RCV000316852|RCV000359854; NMONDO:MONDO:0011839,MedGen:C1843815,OMIM:607476|Human Phenotype Ontology:HP:0030642,MONDO:MONDO:0007639,MedGen:C0311338,OMIM:136880, Orphanet:227796, Orphanet:52427|Human Phenotype Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:158975846389758463ACNC_000015.9:g.89758463A>CClinGen:CA7722302C1843815 607476 Newfoundland rod-cone dystrophy;
NM_000326.5(RLBP1):c.346+3_346+8del6017RLBP1Benign/Likely benignrs56307321RCV000267528|RCV000306563|RCV000320481|RCV000377460|RCV000958695; NMONDO:MONDO:0011839,MedGen:C1843815,OMIM:607476|MedGen:CN169374|MedGen:CN239466|Human Phenotype Ontology:HP:0030642,MONDO:MONDO:0007639,MedGen:C0311338,OMIM:136880, Orphanet:227796, Orphanet:52427|MedGen:CN517202158976034389760348TGGCCTCT15:g.89760343_89760348delClinGen:CA7722319C1843815 607476 Newfoundland rod-cone dystrophy;
NM_000326.5(RLBP1):c.306A>C (p.Ala102=)6017RLBP1Conflicting interpretations of pathogenicityrs143817941RCV000290055|RCV000328618|RCV000381007|RCV000906178|RCV001726111; NMONDO:MONDO:0011839,MedGen:C1843815,OMIM:607476|Human Phenotype Ontology:HP:0030642,MONDO:MONDO:0007639,MedGen:C0311338,OMIM:136880, Orphanet:227796, Orphanet:52427|Human Phenotype Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:158976039189760391TGNC_000015.9:g.89760391T>GClinGen:CA7722327C1843815 607476 Newfoundland rod-cone dystrophy;
NM_000326.5(RLBP1):c.304G>C (p.Ala102Pro)6017RLBP1Uncertain significancers143121722RCV000288924|RCV000350928|RCV000389203; NHuman Phenotype Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000, Orphanet:791|MONDO:MONDO:0011839,MedGen:C1843815,OMIM:607476|Human Phenotype Ontology:HP:0030642,MONDO:MONDO:0007639,MedGen:C0311338,OMIM:1368158976039389760393CGNC_000015.9:g.89760393C>GClinGen:CA10636615C1843815 607476 Newfoundland rod-cone dystrophy;
NM_000326.5(RLBP1):c.228G>C (p.Ser76=)6017RLBP1Uncertain significancers202116993RCV001120614|RCV001120615|RCV001120613; NHuman Phenotype Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000, Orphanet:791|MONDO:MONDO:0011839,MedGen:C1843815,OMIM:607476|Human Phenotype Ontology:HP:0030642,MONDO:MONDO:0007639,MedGen:C0311338,OMIM:1368158976046989760469CG15:g.89760469C>G-
NM_000326.5(RLBP1):c.191G>A (p.Arg64Gln)6017RLBP1Conflicting interpretations of pathogenicityrs201865787RCV000265453|RCV000305613|RCV000358016|RCV000905009; NMONDO:MONDO:0011839,MedGen:C1843815,OMIM:607476|Human Phenotype Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000, Orphanet:791|Human Phenotype Ontology:HP:0030642,MONDO:MONDO:0007639,MedGen:C0311338,OMIM:1368158976050689760506CTNC_000015.9:g.89760506C>TClinGen:CA7722362C1843815 607476 Newfoundland rod-cone dystrophy;
NM_000326.5(RLBP1):c.141+6G>A6017RLBP1Conflicting interpretations of pathogenicityrs181321141RCV000269106|RCV000308882|RCV000365930|RCV000728603|RCV001699363; NMONDO:MONDO:0011839,MedGen:C1843815,OMIM:607476|Human Phenotype Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000, Orphanet:791|Human Phenotype Ontology:HP:0030642,MONDO:MONDO:0007639,MedGen:C0311338,OMIM:1368158976179089761790CTNC_000015.9:g.89761790C>TClinGen:CA7722385C1843815 607476 Newfoundland rod-cone dystrophy;
NM_000326.5(RLBP1):c.141+2T>C6017RLBP1Pathogenic/Likely pathogenicrs760650165RCV000598659|RCV000779175|RCV001800829; NMedGen:CN517202|MedGen:CN239413|MONDO:MONDO:0011839,MedGen:C1843815,OMIM:607476158976179489761794AG15:g.89761794A>GClinGen:CA7722386,OMIM:180090.0002CN517202 not provided;
NM_000326.5(RLBP1):c.141G>A (p.Lys47=)6017RLBP1Pathogenic-1RCV000013977|RCV000013976; NMONDO:MONDO:0018877,MedGen:C1405854, Orphanet:52427|MONDO:MONDO:0011839,MedGen:C1843815,OMIM:607476158976179689761796CTNC_000015.9:g.89761796C>TOMIM:180090.0003C1843815 607476 Newfoundland rod-cone dystrophy;
NM_000326.5(RLBP1):c.107C>T (p.Pro36Leu)6017RLBP1Uncertain significancers200143313RCV000276867|RCV000326172|RCV000387691|RCV001850678; NHuman Phenotype Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000, Orphanet:791|MONDO:MONDO:0011839,MedGen:C1843815,OMIM:607476|Human Phenotype Ontology:HP:0030642,MONDO:MONDO:0007639,MedGen:C0311338,OMIM:1368158976183089761830GANC_000015.9:g.89761830G>AClinGen:CA10647445C1843815 607476 Newfoundland rod-cone dystrophy;
NM_000326.5(RLBP1):c.105C>T (p.Gly35=)6017RLBP1Conflicting interpretations of pathogenicityrs373881009RCV001117122|RCV001117121|RCV001117123|RCV001514876; NHuman Phenotype Ontology:HP:0030642,MONDO:MONDO:0007639,MedGen:C0311338,OMIM:136880, Orphanet:227796, Orphanet:52427|MONDO:MONDO:0011839,MedGen:C1843815,OMIM:607476|Human Phenotype Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:158976183289761832GA15:g.89761832G>A-
NM_000326.5(RLBP1):c.29T>A (p.Met10Lys)6017RLBP1Conflicting interpretations of pathogenicityrs77384282RCV000178076|RCV000280535|RCV000329645|RCV000386660|RCV000896034; NMedGen:CN169374|Human Phenotype Ontology:HP:0030642,MONDO:MONDO:0007639,MedGen:C0311338,OMIM:136880, Orphanet:227796, Orphanet:52427|MONDO:MONDO:0011839,MedGen:C1843815,OMIM:607476|Human Phenotype Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGe158976190889761908AT15:g.89761908A>TClinGen:CA202707C1843815 607476 Newfoundland rod-cone dystrophy;
NM_000326.5(RLBP1):c.-70G>A6017RLBP1Benign/Likely benignrs3743384RCV000280098|RCV000338026|RCV000371637; NHuman Phenotype Ontology:HP:0030642,MONDO:MONDO:0007639,MedGen:C0311338,OMIM:136880, Orphanet:227796, Orphanet:52427|MONDO:MONDO:0011839,MedGen:C1843815,OMIM:607476|Human Phenotype Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:158976227689762276CTNC_000015.9:g.89762276C>TClinGen:CA10636616C1843815 607476 Newfoundland rod-cone dystrophy;
NM_000326.5(RLBP1):c.-72C>T6017RLBP1Uncertain significancers886051501RCV000302301|RCV000342183|RCV000397314; NMONDO:MONDO:0011839,MedGen:C1843815,OMIM:607476|Human Phenotype Ontology:HP:0030642,MONDO:MONDO:0007639,MedGen:C0311338,OMIM:136880, Orphanet:227796, Orphanet:52427|Human Phenotype Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:158976227889762278GANC_000015.9:g.89762278G>AClinGen:CA10642625C1843815 607476 Newfoundland rod-cone dystrophy;
NM_000326.5(RLBP1):c.-169T>A6017RLBP1Uncertain significancers903050784RCV001120706|RCV001120708|RCV001120707; NHuman Phenotype Ontology:HP:0030642,MONDO:MONDO:0007639,MedGen:C0311338,OMIM:136880, Orphanet:227796, Orphanet:52427|MONDO:MONDO:0011839,MedGen:C1843815,OMIM:607476|Human Phenotype Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:158976303689763036AT15:g.89763036A>T-
NM_000326.5(RLBP1):c.-182G>C6017RLBP1Uncertain significancers886051503RCV000270915|RCV000314259|RCV000362721; NMONDO:MONDO:0011839,MedGen:C1843815,OMIM:607476|Human Phenotype Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000, Orphanet:791|Human Phenotype Ontology:HP:0030642,MONDO:MONDO:0007639,MedGen:C0311338,OMIM:1368158976304989763049CGNC_000015.9:g.89763049C>GClinGen:CA10636622C1843815 607476 Newfoundland rod-cone dystrophy;
NM_000326.5(RLBP1):c.-199T>C6017RLBP1Uncertain significancers117263224RCV000274492|RCV000331662|RCV000371362; NMONDO:MONDO:0011839,MedGen:C1843815,OMIM:607476|Human Phenotype Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000, Orphanet:791|Human Phenotype Ontology:HP:0030642,MONDO:MONDO:0007639,MedGen:C0311338,OMIM:1368158976306689763066AGNC_000015.9:g.89763066A>GClinGen:CA10642631C1843815 607476 Newfoundland rod-cone dystrophy;
NM_000326.5(RLBP1):c.-233G>A6017RLBP1Uncertain significancers886051504RCV000263812|RCV000316643|RCV000374632; NMONDO:MONDO:0011839,MedGen:C1843815,OMIM:607476|Human Phenotype Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000, Orphanet:791|Human Phenotype Ontology:HP:0030642,MONDO:MONDO:0007639,MedGen:C0311338,OMIM:1368158976477589764775CTNC_000015.9:g.89764775C>TClinGen:CA10647446C1843815 607476 Newfoundland rod-cone dystrophy;
NM_000326.5(RLBP1):c.-234C>T6017RLBP1Uncertain significancers779779512RCV000286372|RCV000320251|RCV000378474; NHuman Phenotype Ontology:HP:0030642,MONDO:MONDO:0007639,MedGen:C0311338,OMIM:136880, Orphanet:227796, Orphanet:52427|MONDO:MONDO:0011839,MedGen:C1843815,OMIM:607476|Human Phenotype Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:158976477689764776GANC_000015.9:g.89764776G>AClinGen:CA10642632C1843815 607476 Newfoundland rod-cone dystrophy;
NM_000326.4(RLBP1):c.-285C>G6017RLBP1Likely benignrs574201786RCV000289962|RCV000347218|RCV000377230; NMedGen:CN239466|MONDO:MONDO:0011839,MedGen:C1843815,OMIM:607476|Human Phenotype Ontology:HP:0030642,MONDO:MONDO:0007639,MedGen:C0311338,OMIM:136880, Orphanet:227796, Orphanet:52427158976482789764827GCNC_000015.9:g.89764827G>CClinGen:CA10636623C1843815 607476 Newfoundland rod-cone dystrophy;
NM_000326.4(RLBP1):c.-354C>T6017RLBP1Likely benignrs117193134RCV000288867|RCV000350882|RCV000405051; NMONDO:MONDO:0011839,MedGen:C1843815,OMIM:607476|MedGen:CN239466|Human Phenotype Ontology:HP:0030642,MONDO:MONDO:0007639,MedGen:C0311338,OMIM:136880, Orphanet:227796, Orphanet:52427158976489689764896GANC_000015.9:g.89764896G>AClinGen:CA10642633C1843815 607476 Newfoundland rod-cone dystrophy;
MSeqDR Portal