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Corneal Dystrophies, Hereditary (D003317)
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Retinal Diseases (D012164)
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Bietti Crystalline Dystrophy (C535440)

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 Sister Nodes: 
..expandAl Gazali Sabrinathan Nair syndrome (C535617)
..expandAngioid Streaks (D000793)
..expandAusems Wittebol-Post Hennekam syndrome (C538272)
..expandBestrophinopathy (C567518)
..expandBESTROPHINOPATHY, AUTOSOMAL RECESSIVE (OMIM:611809)
..expandBietti Crystalline Dystrophy (C535440)
..expandBothnia Retinal Dystrophy (C564392)
..expandCentral Serous Chorioretinopathy (D056833)
..expandCerebroretinal Microangiopathy with Calcifications and Cysts (C567401)
..expandCone Dystrophy (D000077765)
..expandDiabetic Retinopathy (D003930) Child1
..expandEpiretinal Membrane (D019773)
..expandExudative Vitreoretinopathy 4 (C566619)
..expandExudative Vitreoretinopathy 5 (C567648)
..expandEXUDATIVE VITREORETINOPATHY 6 (OMIM:616468)
..expandFamilial Exudative Vitreoretinopathy (C580083)
..expandFleck Retina, Familial Benign (C565564)
..expandFLOTCH syndrome (C537065)
..expandFundus Albipunctatus (C562733)
..expandGrouped Pigmentation of the Macula (C565530)
..expandHypertensive Retinopathy (D058437)
..expandIris hypoplasia and glaucoma (C535538)
..expandLeber Congenital Amaurosis (D057130) Child20
..expandMicrocephaly with Chorioretinopathy, Autosomal Dominant (C563583)
..expandMicrocephaly with Chorioretinopathy, Autosomal Recessive (C565379)
..expandMICROPHTHALMIA, ISOLATED 5 (OMIM:611040)
..expandOculomelic amyoplasia (C537737)
..expandRambaud Galian syndrome (C535283)
..expandRamos Arroyo Clark syndrome (C535286)
..expandRetinal Aplasia (C566720)
..expandRetinal Artery Occlusion (D015356) Child1
..expandRetinal Degeneration (D012162) Child195  LSDB C:2
..expandRetinal Detachment (D012163) Child9
..expandRetinal Dysplasia (D015792) Child2
..expandRETINAL DYSPLASIA, PRIMARY (OMIM:312550)
..expandRetinal Hemorrhage (D012166) Child2
..expandRetinal Neoplasms (D019572) Child3
..expandRetinal Neovascularization (D015861)
..expandRetinal Nonattachment, Nonsyndromic Congenital (C565633)
..expandRetinal Perforations (D012167)
..expandRetinal Telangiectasis (D058456) Child1
..expandRetinal Vasculitis (D031300) Child1
..expandRetinal Vein Occlusion (D012170)
..expandRetinitis (D012173) Child4
..expandRetinopathy of Prematurity (D012178)
..expandRoifman syndrome (C535866)
..expandStickler Syndrome, Autosomal Recessive, COL9A1-Related (C565177)
..expandVasculopathy, Retinal, With Cerebral Leukodystrophy (C566007)
..expandVitreoretinopathy with Phalangeal Epiphyseal Dysplasia (C565179)
..expandVitreoretinopathy, Proliferative (D018630) Child5
   

Human Disease MESH is developed by UMLS.
Further data from MedGen, OMIM,ClinVar, CTD
Term ID:1337
Name:Bietti Crystalline Dystrophy
Definition:
Alternative IDs:OMIM:210370
ParentIDs:MESH:D003317|MESH:D012164
TreeNumbers:C11.204.236/C535440 |C11.270.162/C535440 |C11.768/C535440 |C16.320.290.162/C535440
Synonyms:BCD |Bietti Crystalline Corneoretinal Dystrophy |BIETTI CRYSTALLINE DYSTROPHY |Bietti Crystalline Retinopathy |Bietti's crystalline corneoretinal dystrophy |Bietti's crystalline dystrophy |Bietti tapetoretinal degeneration with marginal corneal dystrophy
Slim Mappings:Eye disease|Genetic disease (inborn)
Reference: MedGen: C535440
MeSH: C535440
OMIM: 210370;
MSeqDR LSDB:  
Genes: CYP4V2;
Phenotypes
1 HP:0000007Autosomal recessive inheritance
2 HP:0001871Abnormality of blood and blood-forming tissues
NAMDC:  Hematopoetic
3 HP:0000533Chorioretinal atrophy
4 HP:0001133Constriction of peripheral visual field
5 HP:0011003High myopiaHP:0040283
6 HP:0007880Marginal corneal dystrophy
7 HP:0007675Progressive night blindness
8 HP:0000529Progressive visual loss
9 HP:0000546Retinal degeneration
Disease Causing ClinVar Variants
Variation_NameGeneIDGeneSymbolClinicalSignificancedbSNPRCVaccessionTestedInGTRPhenotypeIDsChromosomeStartStopHGVS_cHGVS_pHGVS_gOtherIDsDisease_ClinVar
NM_000350.3(ABCA4):c.3522+6T>C24ABCA4Uncertain significancers1570370713RCV000787904; NMONDO:MONDO:0008865,MedGen:C1859486,OMIM:210370, Orphanet:4175119450675994506759AG1:g.94506759A>G-
NM_000350.3(ABCA4):c.3210_3211dup (p.Ser1071fs)24ABCA4Pathogenicrs387906385RCV000413475|RCV000504931|RCV000787775|RCV001073604; NMedGen:CN517202|MONDO:MONDO:0009549,MeSH:C535804,MedGen:C1855465,OMIM:248200, Orphanet:364055, Orphanet:827|MONDO:MONDO:0008865,MedGen:C1859486,OMIM:210370, Orphanet:41751|Human Phenotype Ontology:HP:0000556,Human Phenotype Ontology:HP:0007736,Human Phenot19450843394508434GGAC1:g.94508433_94508434insACClinGen:CA958005
NM_207352.3(CYP4V2):c.-302G>A285440CYP4V2Uncertain significancers549805175RCV000283823|RCV000392471; NMedGen:CN239343|MONDO:MONDO:0008865,MedGen:C1859486,OMIM:210370, Orphanet:417514187112676187112676GA4:g.187112676G>AClinGen:CA3162391C1859486 210370 Bietti crystalline corneoretinal dystrophy;
NM_207352.3(CYP4V2):c.-296A>C285440CYP4V2Benignrs7662717RCV000343556|RCV000404040; NMONDO:MONDO:0008865,MedGen:C1859486,OMIM:210370, Orphanet:41751|MedGen:CN2393434187112682187112682AC4:g.187112682A>CClinGen:CA10618405C1859486 210370 Bietti crystalline corneoretinal dystrophy;
NM_207352.4(CYP4V2):c.-199C>T285440CYP4V2Uncertain significancers886059278RCV000299136|RCV000353945; NHuman Phenotype Ontology:HP:0001131,Human Phenotype Ontology:HP:0007775,MONDO:MONDO:0018102,MedGen:C0010036, Orphanet:34533|MONDO:MONDO:0008865,MedGen:C1859486,OMIM:210370, Orphanet:417514187112779187112779CT4:g.187112779C>TClinGen:CA10620646C1859486 210370 Bietti crystalline corneoretinal dystrophy;
NM_207352.4(CYP4V2):c.-178C>T285440CYP4V2Uncertain significancers886059279RCV000299291|RCV000394417; NHuman Phenotype Ontology:HP:0001131,Human Phenotype Ontology:HP:0007775,MONDO:MONDO:0018102,MedGen:C0010036, Orphanet:34533|MONDO:MONDO:0008865,MedGen:C1859486,OMIM:210370, Orphanet:417514187112800187112800CT4:g.187112800C>TClinGen:CA10620647C1859486 210370 Bietti crystalline corneoretinal dystrophy;
NM_207352.4(CYP4V2):c.-152A>G285440CYP4V2Benignrs2241819RCV000273471|RCV000368046; NHuman Phenotype Ontology:HP:0001131,Human Phenotype Ontology:HP:0007775,MONDO:MONDO:0018102,MedGen:C0010036, Orphanet:34533|MONDO:MONDO:0008865,MedGen:C1859486,OMIM:210370, Orphanet:417514187112826187112826AG4:g.187112826A>GClinGen:CA10620589C1859486 210370 Bietti crystalline corneoretinal dystrophy;
NM_207352.4(CYP4V2):c.-146C>T285440CYP4V2Benignrs1398007RCV000333210|RCV000369309; NHuman Phenotype Ontology:HP:0001131,Human Phenotype Ontology:HP:0007775,MONDO:MONDO:0018102,MedGen:C0010036, Orphanet:34533|MONDO:MONDO:0008865,MedGen:C1859486,OMIM:210370, Orphanet:417514187112832187112832CT4:g.187112832C>TClinGen:CA10620602C1859486 210370 Bietti crystalline corneoretinal dystrophy;
NM_207352.4(CYP4V2):c.-133G>T285440CYP4V2Uncertain significance-1RCV001145841|RCV001145842; NHuman Phenotype Ontology:HP:0001131,Human Phenotype Ontology:HP:0007775,MONDO:MONDO:0018102,MedGen:C0010036, Orphanet:34533|MONDO:MONDO:0008865,MedGen:C1859486,OMIM:210370, Orphanet:417514187112845187112845GT4:g.187112845G>T-
NM_207352.4(CYP4V2):c.-130del285440CYP4V2Likely benignrs200054565RCV000270029|RCV000325117; NMONDO:MONDO:0008865,MedGen:C1859486,OMIM:210370, Orphanet:41751|MedGen:CN2393434187112848187112848GCG4:g.187112848_187112848delClinGen:CA10618419C1859486 210370 Bietti crystalline corneoretinal dystrophy;
NM_207352.4(CYP4V2):c.-128A>G285440CYP4V2Benign/Likely benignrs531909464RCV000271857|RCV000384414; NMONDO:MONDO:0008865,MedGen:C1859486,OMIM:210370, Orphanet:41751|Human Phenotype Ontology:HP:0001131,Human Phenotype Ontology:HP:0007775,MONDO:MONDO:0018102,MedGen:C0010036, Orphanet:345334187112850187112850AG4:g.187112850A>GClinGen:CA10617499C1859486 210370 Bietti crystalline corneoretinal dystrophy;
NM_207352.4(CYP4V2):c.-56C>G285440CYP4V2Uncertain significancers886059280RCV000322206|RCV000376809; NHuman Phenotype Ontology:HP:0001131,Human Phenotype Ontology:HP:0007775,MONDO:MONDO:0018102,MedGen:C0010036, Orphanet:34533|MONDO:MONDO:0008865,MedGen:C1859486,OMIM:210370, Orphanet:417514187112922187112922CG4:g.187112922C>GClinGen:CA10618424
NM_207352.4(CYP4V2):c.-22C>G285440CYP4V2Uncertain significance-1RCV001148608|RCV001148609; NMONDO:MONDO:0008865,MedGen:C1859486,OMIM:210370, Orphanet:41751|Human Phenotype Ontology:HP:0001131,Human Phenotype Ontology:HP:0007775,MONDO:MONDO:0018102,MedGen:C0010036, Orphanet:345334187112956187112956CG4:g.187112956C>G-
NM_207352.4(CYP4V2):c.24C>T (p.Leu8=)285440CYP4V2Conflicting interpretations of pathogenicityrs202148693RCV000287005|RCV000341915|RCV000964256; NMONDO:MONDO:0008865,MedGen:C1859486,OMIM:210370, Orphanet:41751|Human Phenotype Ontology:HP:0001131,Human Phenotype Ontology:HP:0007775,MONDO:MONDO:0018102,MedGen:C0010036, Orphanet:34533|MedGen:CN5172024187113001187113001CT4:g.187113001C>TClinGen:CA3162406
NM_207352.4(CYP4V2):c.64C>G (p.Leu22Val)285440CYP4V2Benignrs1055138RCV000032544|RCV000082840|RCV000132719|RCV000278726; NMONDO:MONDO:0008865,MedGen:C1859486,OMIM:210370, Orphanet:41751|MedGen:CN169374|MedGen:CN517202|Human Phenotype Ontology:HP:0001131,Human Phenotype Ontology:HP:0007775,MONDO:MONDO:0018102,MedGen:C0010036, Orphanet:345334187113041187113041CG4:g.187113041C>GClinGen:CA149664,UniProtKB:Q6ZWL3#VAR_038606C1859486 210370 Bietti crystalline corneoretinal dystrophy;
NM_207352.4(CYP4V2):c.99G>A (p.Leu33=)285440CYP4V2Conflicting interpretations of pathogenicityrs145611966RCV000963438|RCV001148610|RCV001150193; NMedGen:CN517202|Human Phenotype Ontology:HP:0001131,Human Phenotype Ontology:HP:0007775,MONDO:MONDO:0018102,MedGen:C0010036, Orphanet:34533|MONDO:MONDO:0008865,MedGen:C1859486,OMIM:210370, Orphanet:417514187113076187113076GA4:g.187113076G>A-
NM_207352.4(CYP4V2):c.120C>G (p.Tyr40Ter)285440CYP4V2Pathogenicrs1481160549RCV001003003; NMONDO:MONDO:0008865,MedGen:C1859486,OMIM:210370, Orphanet:417514187113097187113097CG4:g.187113097C>G-
NM_207352.4(CYP4V2):c.130T>A (p.Trp44Arg)285440CYP4V2Uncertain significancers119103282RCV000002271|RCV001238785; NMONDO:MONDO:0008865,MedGen:C1859486,OMIM:210370, Orphanet:41751|MedGen:CN5172024187113107187113107TA4:g.187113107T>AClinGen:CA339954,UniProtKB:Q6ZWL3#VAR_023084,OMIM:608614.0001C1859486 210370 Bietti crystalline corneoretinal dystrophy;
NM_207352.4(CYP4V2):c.163C>A (p.Arg55Ser)285440CYP4V2Uncertain significancers760001831RCV000338412|RCV000405645; NMONDO:MONDO:0008865,MedGen:C1859486,OMIM:210370, Orphanet:41751|Human Phenotype Ontology:HP:0001131,Human Phenotype Ontology:HP:0007775,MONDO:MONDO:0018102,MedGen:C0010036, Orphanet:345334187113140187113140CA4:g.187113140C>AClinGen:CA10618426
NM_207352.4(CYP4V2):c.181G>A (p.Gly61Ser)285440CYP4V2Pathogenicrs119103285RCV000002274; NMONDO:MONDO:0008865,MedGen:C1859486,OMIM:210370, Orphanet:417514187113158187113158GA4:g.187113158G>AClinGen:CA339957,UniProtKB:Q6ZWL3#VAR_023085,OMIM:608614.0004C1859486 210370 Bietti crystalline corneoretinal dystrophy;
NM_207352.4(CYP4V2):c.237G>T (p.Glu79Asp)285440CYP4V2Uncertain significancers199476185RCV000032536|RCV000352220|RCV001074796|RCV001092654; NMONDO:MONDO:0008865,MedGen:C1859486,OMIM:210370, Orphanet:41751|Human Phenotype Ontology:HP:0001131,Human Phenotype Ontology:HP:0007775,MONDO:MONDO:0018102,MedGen:C0010036, Orphanet:34533|Human Phenotype Ontology:HP:0000556,Human Phenotype Ontology:HP:0004187115676187115676GT4:g.187115676G>TClinGen:CA343723,UniProtKB:Q6ZWL3#VAR_023086C1859486 210370 Bietti crystalline corneoretinal dystrophy;
NM_207352.4(CYP4V2):c.253C>T (p.Arg85Cys)285440CYP4V2Pathogenicrs199476186RCV000032537; NMONDO:MONDO:0008865,MedGen:C1859486,OMIM:210370, Orphanet:417514187115692187115692CT4:g.187115692C>TClinGen:CA343724C1859486 210370 Bietti crystalline corneoretinal dystrophy;
NM_207352.4(CYP4V2):c.282C>T (p.Val94=)285440CYP4V2Uncertain significancers142775374RCV000307955|RCV000404727; NHuman Phenotype Ontology:HP:0001131,Human Phenotype Ontology:HP:0007775,MONDO:MONDO:0018102,MedGen:C0010036, Orphanet:34533|MONDO:MONDO:0008865,MedGen:C1859486,OMIM:210370, Orphanet:417514187115721187115721CT4:g.187115721C>TClinGen:CA3162490
NM_207352.4(CYP4V2):c.283G>A (p.Gly95Arg)285440CYP4V2Pathogenicrs199476187RCV000032538|RCV001221420; NMONDO:MONDO:0008865,MedGen:C1859486,OMIM:210370, Orphanet:41751|MedGen:CN5172024187115722187115722GA4:g.187115722G>AClinGen:CA343726C1859486 210370 Bietti crystalline corneoretinal dystrophy;
NM_207352.4(CYP4V2):c.302C>T (p.Ala101Val)285440CYP4V2Uncertain significancers143272248RCV000272624|RCV000362639|RCV001053250; NMONDO:MONDO:0008865,MedGen:C1859486,OMIM:210370, Orphanet:41751|Human Phenotype Ontology:HP:0001131,Human Phenotype Ontology:HP:0007775,MONDO:MONDO:0018102,MedGen:C0010036, Orphanet:34533|MedGen:CN5172024187115741187115741CT4:g.187115741C>TClinGen:CA3162494
NM_207352.4(CYP4V2):c.311A>G (p.Asn104Ser)285440CYP4V2Uncertain significancers886059281RCV000309066|RCV000358766; NMONDO:MONDO:0008865,MedGen:C1859486,OMIM:210370, Orphanet:41751|MedGen:CN2393434187115750187115750AG4:g.187115750A>GClinGen:CA10620604
NM_207352.4(CYP4V2):c.327+1G>A285440CYP4V2Pathogenicrs199476182RCV000032539; NMONDO:MONDO:0008865,MedGen:C1859486,OMIM:210370, Orphanet:417514187115767187115767GA4:g.187115767G>AClinGen:CA343728C1859486 210370 Bietti crystalline corneoretinal dystrophy;
NM_207352.4(CYP4V2):c.327+11G>C285440CYP4V2Benign/Likely benignrs62350517RCV000263928|RCV000323862|RCV000732162; NHuman Phenotype Ontology:HP:0001131,Human Phenotype Ontology:HP:0007775,MONDO:MONDO:0018102,MedGen:C0010036, Orphanet:34533|MONDO:MONDO:0008865,MedGen:C1859486,OMIM:210370, Orphanet:41751|MedGen:CN1693744187115777187115777GC4:g.187115777G>CClinGen:CA3162503
NM_207352.4(CYP4V2):c.332T>C (p.Ile111Thr)285440CYP4V2Pathogenicrs119103283RCV000002272|RCV001047112; NMONDO:MONDO:0008865,MedGen:C1859486,OMIM:210370, Orphanet:41751|MedGen:CN5172024187117161187117161TC4:g.187117161T>CClinGen:CA339955,UniProtKB:Q6ZWL3#VAR_023087,OMIM:608614.0002C1859486 210370 Bietti crystalline corneoretinal dystrophy;
NM_207352.4(CYP4V2):c.335T>G (p.Leu112Ter)285440CYP4V2Pathogenicrs199476188RCV000032540; NMONDO:MONDO:0008865,MedGen:C1859486,OMIM:210370, Orphanet:417514187117164187117164TG4:g.187117164T>GClinGen:CA343729C1859486 210370 Bietti crystalline corneoretinal dystrophy;
NM_207352.4(CYP4V2):c.367A>G (p.Met123Val)285440CYP4V2Uncertain significancers149684063RCV000032541|RCV000132718|RCV000260520|RCV001074793; NMONDO:MONDO:0008865,MedGen:C1859486,OMIM:210370, Orphanet:41751|MedGen:CN517202|Human Phenotype Ontology:HP:0001131,Human Phenotype Ontology:HP:0007775,MONDO:MONDO:0018102,MedGen:C0010036, Orphanet:34533|Human Phenotype Ontology:HP:0000556,Human Phenotype4187117196187117196AG4:g.187117196A>GClinGen:CA232864,UniProtKB:Q6ZWL3#VAR_023088C1859486 210370 Bietti crystalline corneoretinal dystrophy;
NM_207352.4(CYP4V2):c.400G>T (p.Gly134Ter)285440CYP4V2Pathogenicrs199476189RCV000032542|RCV001093468; NMONDO:MONDO:0008865,MedGen:C1859486,OMIM:210370, Orphanet:41751|MedGen:CN5172024187117229187117229GT4:g.187117229G>TClinGen:CA343731C1859486 210370 Bietti crystalline corneoretinal dystrophy;
NM_207352.4(CYP4V2):c.501_504del (p.Glu168fs)285440CYP4V2Likely pathogenic-1RCV001195425; NMONDO:MONDO:0008865,MedGen:C1859486,OMIM:210370, Orphanet:417514187118176187118179CATGAC4:g.187118176_187118179del-
NM_207352.4(CYP4V2):c.518T>G (p.Leu173Trp)285440CYP4V2Pathogenicrs199476190RCV000032543; NMONDO:MONDO:0008865,MedGen:C1859486,OMIM:210370, Orphanet:417514187118198187118198TG4:g.187118198T>GClinGen:CA343733C1859486 210370 Bietti crystalline corneoretinal dystrophy;
NM_207352.4(CYP4V2):c.555A>T (p.Ala185=)285440CYP4V2Benignrs11932764RCV000315783|RCV000375099; NMONDO:MONDO:0008865,MedGen:C1859486,OMIM:210370, Orphanet:41751|Human Phenotype Ontology:HP:0001131,Human Phenotype Ontology:HP:0007775,MONDO:MONDO:0018102,MedGen:C0010036, Orphanet:345334187118235187118235AT4:g.187118235A>TClinGen:CA3162585
NM_207352.4(CYP4V2):c.610G>A (p.Ala204Thr)285440CYP4V2Conflicting interpretations of pathogenicityrs61745524RCV000585567|RCV001144049|RCV001144050; NMedGen:CN517202|Human Phenotype Ontology:HP:0001131,Human Phenotype Ontology:HP:0007775,MONDO:MONDO:0018102,MedGen:C0010036, Orphanet:34533|MONDO:MONDO:0008865,MedGen:C1859486,OMIM:210370, Orphanet:417514187118692187118692GA4:g.187118692G>AClinGen:CA3162612CN517202 not provided;
NM_207352.4(CYP4V2):c.626T>C (p.Ile209Thr)285440CYP4V2Uncertain significancers376640607RCV000280676|RCV000350264|RCV001225802; NHuman Phenotype Ontology:HP:0001131,Human Phenotype Ontology:HP:0007775,MONDO:MONDO:0018102,MedGen:C0010036, Orphanet:34533|MONDO:MONDO:0008865,MedGen:C1859486,OMIM:210370, Orphanet:41751|MedGen:CN5172024187118708187118708TC4:g.187118708T>CClinGen:CA3162613
NM_207352.4(CYP4V2):c.638G>A (p.Ser213Asn)285440CYP4V2Benign/Likely benignrs34331648RCV000296354|RCV000386083|RCV000966932; NHuman Phenotype Ontology:HP:0001131,Human Phenotype Ontology:HP:0007775,MONDO:MONDO:0018102,MedGen:C0010036, Orphanet:34533|MONDO:MONDO:0008865,MedGen:C1859486,OMIM:210370, Orphanet:41751|MedGen:CN5172024187118720187118720GA4:g.187118720G>AClinGen:CA3162614,UniProtKB:Q6ZWL3#VAR_038607
NM_207352.4(CYP4V2):c.655T>C (p.Tyr219His)285440CYP4V2Pathogenicrs199476191RCV000032545; NMONDO:MONDO:0008865,MedGen:C1859486,OMIM:210370, Orphanet:417514187118737187118737TC4:g.187118737T>CClinGen:CA343735C1859486 210370 Bietti crystalline corneoretinal dystrophy;
NM_207352.4(CYP4V2):c.661C>T (p.Arg221Cys)285440CYP4V2Uncertain significancers745471184RCV000351328|RCV000392054; NMONDO:MONDO:0008865,MedGen:C1859486,OMIM:210370, Orphanet:41751|Human Phenotype Ontology:HP:0001131,Human Phenotype Ontology:HP:0007775,MONDO:MONDO:0018102,MedGen:C0010036, Orphanet:345334187118743187118743CT4:g.187118743C>TClinGen:CA3162617
NM_207352.4(CYP4V2):c.662G>A (p.Arg221His)285440CYP4V2Uncertain significancers763083895RCV000306829|RCV000347765; NHuman Phenotype Ontology:HP:0001131,Human Phenotype Ontology:HP:0007775,MONDO:MONDO:0018102,MedGen:C0010036, Orphanet:34533|MONDO:MONDO:0008865,MedGen:C1859486,OMIM:210370, Orphanet:417514187118744187118744GA4:g.187118744G>AClinGen:CA3162618
NM_207352.4(CYP4V2):c.674+14T>C285440CYP4V2Uncertain significance-1RCV001145950|RCV001148735; NHuman Phenotype Ontology:HP:0001131,Human Phenotype Ontology:HP:0007775,MONDO:MONDO:0018102,MedGen:C0010036, Orphanet:34533|MONDO:MONDO:0008865,MedGen:C1859486,OMIM:210370, Orphanet:417514187118770187118770TC4:g.187118770T>C-
NM_207352.4(CYP4V2):c.736C>G (p.Leu246Val)285440CYP4V2Uncertain significancers531538384RCV000303735|RCV000406483; NMONDO:MONDO:0008865,MedGen:C1859486,OMIM:210370, Orphanet:41751|Human Phenotype Ontology:HP:0001131,Human Phenotype Ontology:HP:0007775,MONDO:MONDO:0018102,MedGen:C0010036, Orphanet:345334187120172187120172CG4:g.187120172C>GClinGen:CA3162640
NM_207352.4(CYP4V2):c.759dup (p.His254fs)285440CYP4V2Pathogenicrs199476192RCV000032546; NMONDO:MONDO:0008865,MedGen:C1859486,OMIM:210370, Orphanet:417514187120193187120194GGA4:g.187120193_187120194insAClinGen:CA343737C1859486 210370 Bietti crystalline corneoretinal dystrophy;
NM_207352.4(CYP4V2):c.761A>G (p.His254Arg)285440CYP4V2Pathogenicrs199476193RCV000032547; NMONDO:MONDO:0008865,MedGen:C1859486,OMIM:210370, Orphanet:417514187120197187120197AG4:g.187120197A>GClinGen:CA343738C1859486 210370 Bietti crystalline corneoretinal dystrophy;
NM_207352.4(CYP4V2):c.772C>A (p.Leu258Ile)285440CYP4V2Uncertain significance-1RCV001148736|RCV001148737|RCV001225922; NMONDO:MONDO:0008865,MedGen:C1859486,OMIM:210370, Orphanet:41751|Human Phenotype Ontology:HP:0001131,Human Phenotype Ontology:HP:0007775,MONDO:MONDO:0018102,MedGen:C0010036, Orphanet:34533|MedGen:CN5172024187120208187120208CA4:g.187120208C>A-
NM_207352.4(CYP4V2):c.775C>A (p.Gln259Lys)285440CYP4V2Benignrs13146272RCV000244699|RCV000268361|RCV000358574; NMedGen:CN169374|MONDO:MONDO:0008865,MedGen:C1859486,OMIM:210370, Orphanet:41751|Human Phenotype Ontology:HP:0001131,Human Phenotype Ontology:HP:0007775,MONDO:MONDO:0018102,MedGen:C0010036, Orphanet:345334187120211187120211CA4:g.187120211C>AClinGen:CA3162645,UniProtKB:Q6ZWL3#VAR_033821
NM_207352.4(CYP4V2):c.802-8_810delinsGC285440CYP4V2Conflicting interpretations of pathogenicityrs207482233RCV000032548|RCV000355196|RCV000726829|RCV001075704; NMONDO:MONDO:0008865,MedGen:C1859486,OMIM:210370, Orphanet:41751|MedGen:CN239343|MedGen:CN517202|Human Phenotype Ontology:HP:0000556,Human Phenotype Ontology:HP:0007736,Human Phenotype Ontology:HP:0007910,Human Phenotype Ontology:HP:0007974,Human Phenotyp4187122303187122319TCATACAGGTCATCGCTGC4:g.187122304_187122319delClinGen:CA343740,OMIM:608614.0006C1859486 210370 Bietti crystalline corneoretinal dystrophy;
NM_207352.4(CYP4V2):c.802-7C>T285440CYP4V2Benignrs3817184RCV000153130|RCV000260351|RCV000320079; NMedGen:CN169374|MONDO:MONDO:0008865,MedGen:C1859486,OMIM:210370, Orphanet:41751|Human Phenotype Ontology:HP:0001131,Human Phenotype Ontology:HP:0007775,MONDO:MONDO:0018102,MedGen:C0010036, Orphanet:345334187122304187122304CT4:g.187122304C>TClinGen:CA179957C1859486 210370 Bietti crystalline corneoretinal dystrophy;
NM_207352.4(CYP4V2):c.810T>G (p.Ala270=)285440CYP4V2Benignrs3736455RCV000153131|RCV000273389|RCV000356224; NMedGen:CN169374|MONDO:MONDO:0008865,MedGen:C1859486,OMIM:210370, Orphanet:41751|Human Phenotype Ontology:HP:0001131,Human Phenotype Ontology:HP:0007775,MONDO:MONDO:0018102,MedGen:C0010036, Orphanet:345334187122319187122319TG4:g.187122319T>GClinGen:CA179958C1859486 210370 Bietti crystalline corneoretinal dystrophy;
NM_207352.4(CYP4V2):c.823G>A (p.Glu275Lys)285440CYP4V2Benign/Likely benignrs34745240RCV000245860|RCV000333143|RCV000387735; NMedGen:CN169374|Human Phenotype Ontology:HP:0001131,Human Phenotype Ontology:HP:0007775,MONDO:MONDO:0018102,MedGen:C0010036, Orphanet:34533|MONDO:MONDO:0008865,MedGen:C1859486,OMIM:210370, Orphanet:417514187122332187122332GA4:g.187122332G>AClinGen:CA3162674,UniProtKB:Q6ZWL3#VAR_055379C1859486 210370 Bietti crystalline corneoretinal dystrophy;
NM_207352.4(CYP4V2):c.841G>A (p.Asp281Asn)285440CYP4V2Uncertain significance-1RCV001144156|RCV001144157; NMONDO:MONDO:0008865,MedGen:C1859486,OMIM:210370, Orphanet:41751|Human Phenotype Ontology:HP:0001131,Human Phenotype Ontology:HP:0007775,MONDO:MONDO:0018102,MedGen:C0010036, Orphanet:345334187122350187122350GA4:g.187122350G>A-
NM_207352.4(CYP4V2):c.846T>C (p.Cys282=)285440CYP4V2Benignrs3736456RCV000153132|RCV000288722|RCV000325070; NMedGen:CN169374|MONDO:MONDO:0008865,MedGen:C1859486,OMIM:210370, Orphanet:41751|Human Phenotype Ontology:HP:0001131,Human Phenotype Ontology:HP:0007775,MONDO:MONDO:0018102,MedGen:C0010036, Orphanet:345334187122355187122355TC4:g.187122355T>CClinGen:CA179960C1859486 210370 Bietti crystalline corneoretinal dystrophy;
NM_207352.4(CYP4V2):c.958C>T (p.Arg320Ter)285440CYP4V2Pathogenicrs199476194RCV000032549; NMONDO:MONDO:0008865,MedGen:C1859486,OMIM:210370, Orphanet:417514187122467187122467CT4:g.187122467C>TClinGen:CA343741C1859486 210370 Bietti crystalline corneoretinal dystrophy;
NM_207352.4(CYP4V2):c.971A>T (p.Asp324Val)285440CYP4V2Pathogenicrs199476195RCV000032550; NMONDO:MONDO:0008865,MedGen:C1859486,OMIM:210370, Orphanet:417514187122480187122480AT4:g.187122480A>TClinGen:CA343743C1859486 210370 Bietti crystalline corneoretinal dystrophy;
NM_207352.4(CYP4V2):c.974C>T (p.Thr325Ile)285440CYP4V2Pathogenicrs199476196RCV000032551; NMONDO:MONDO:0008865,MedGen:C1859486,OMIM:210370, Orphanet:417514187122483187122483CT4:g.187122483C>TClinGen:CA343745C1859486 210370 Bietti crystalline corneoretinal dystrophy;
NM_207352.4(CYP4V2):c.987+7T>C285440CYP4V2Uncertain significance-1RCV001144158|RCV001144159; NMONDO:MONDO:0008865,MedGen:C1859486,OMIM:210370, Orphanet:41751|Human Phenotype Ontology:HP:0001131,Human Phenotype Ontology:HP:0007775,MONDO:MONDO:0018102,MedGen:C0010036, Orphanet:345334187122503187122503TC4:g.187122503T>C-
NM_207352.4(CYP4V2):c.992A>C (p.His331Pro)285440CYP4V2Pathogenicrs199476197RCV000032552|RCV000490060|RCV001074450; NMONDO:MONDO:0008865,MedGen:C1859486,OMIM:210370, Orphanet:41751|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:004187126358187126358AC4:g.187126358A>CClinGen:CA343747,UniProtKB:Q6ZWL3#VAR_023089,OMIM:608614.0007C1859486 210370 Bietti crystalline corneoretinal dystrophy;
NM_207352.4(CYP4V2):c.1020G>A (p.Trp340Ter)285440CYP4V2Pathogenicrs199476198RCV000032525; NMONDO:MONDO:0008865,MedGen:C1859486,OMIM:210370, Orphanet:417514187126386187126386GA4:g.187126386G>AClinGen:CA343703C1859486 210370 Bietti crystalline corneoretinal dystrophy;
NM_207352.4(CYP4V2):c.1021T>C (p.Ser341Pro)285440CYP4V2Pathogenicrs199476199RCV000032526; NMONDO:MONDO:0008865,MedGen:C1859486,OMIM:210370, Orphanet:417514187126387187126387TC4:g.187126387T>CUniProtKB:Q6ZWL3#VAR_023090,ClinGen:CA343705C1859486 210370 Bietti crystalline corneoretinal dystrophy;
NM_207352.4(CYP4V2):c.1062A>G (p.Lys354=)285440CYP4V2Uncertain significance-1RCV001144160|RCV001146043; NMONDO:MONDO:0008865,MedGen:C1859486,OMIM:210370, Orphanet:41751|Human Phenotype Ontology:HP:0001131,Human Phenotype Ontology:HP:0007775,MONDO:MONDO:0018102,MedGen:C0010036, Orphanet:345334187126428187126428AG4:g.187126428A>G-
NM_207352.4(CYP4V2):c.1083C>T (p.Asp361=)285440CYP4V2Benignrs10029149RCV000291866|RCV000384334; NMONDO:MONDO:0008865,MedGen:C1859486,OMIM:210370, Orphanet:41751|Human Phenotype Ontology:HP:0001131,Human Phenotype Ontology:HP:0007775,MONDO:MONDO:0018102,MedGen:C0010036, Orphanet:345334187126449187126449CT4:g.187126449C>TClinGen:CA3162733
NM_207352.4(CYP4V2):c.1091-15A>G285440CYP4V2Uncertain significance-1RCV001146044|RCV001146045; NMONDO:MONDO:0008865,MedGen:C1859486,OMIM:210370, Orphanet:41751|Human Phenotype Ontology:HP:0001131,Human Phenotype Ontology:HP:0007775,MONDO:MONDO:0018102,MedGen:C0010036, Orphanet:345334187130004187130004AG4:g.187130004A>G-
NM_207352.4(CYP4V2):c.1091-4T>A285440CYP4V2Benign/Likely benignrs61748269RCV000339797|RCV000391112|RCV000968046; NHuman Phenotype Ontology:HP:0001131,Human Phenotype Ontology:HP:0007775,MONDO:MONDO:0018102,MedGen:C0010036, Orphanet:34533|MONDO:MONDO:0008865,MedGen:C1859486,OMIM:210370, Orphanet:41751|MedGen:CN5172024187130015187130015TA4:g.187130015T>AClinGen:CA3162758
NM_207352.4(CYP4V2):c.1091-2A>G285440CYP4V2Pathogenicrs199476183RCV000002275; NMONDO:MONDO:0008865,MedGen:C1859486,OMIM:210370, Orphanet:417514187130017187130017AG4:g.187130017A>GClinGen:CA339958,OMIM:608614.0005C1859486 210370 Bietti crystalline corneoretinal dystrophy;
NM_207352.4(CYP4V2):c.1103G>A (p.Arg368His)285440CYP4V2Uncertain significance-1RCV001146046|RCV001148837; NMONDO:MONDO:0008865,MedGen:C1859486,OMIM:210370, Orphanet:41751|Human Phenotype Ontology:HP:0001131,Human Phenotype Ontology:HP:0007775,MONDO:MONDO:0018102,MedGen:C0010036, Orphanet:345334187130031187130031GA4:g.187130031G>A-
NM_207352.4(CYP4V2):c.1120G>T (p.Asp374Tyr)285440CYP4V2Uncertain significance-1RCV001148838|RCV001148839; NMONDO:MONDO:0008865,MedGen:C1859486,OMIM:210370, Orphanet:41751|Human Phenotype Ontology:HP:0001131,Human Phenotype Ontology:HP:0007775,MONDO:MONDO:0018102,MedGen:C0010036, Orphanet:345334187130048187130048GT4:g.187130048G>T-
NM_207352.4(CYP4V2):c.1123del (p.Asp374_Leu375insTer)285440CYP4V2Pathogenicrs1579976512RCV001003004; NMONDO:MONDO:0008865,MedGen:C1859486,OMIM:210370, Orphanet:417514187130050187130050ACA4:g.187130050_187130050del-
NM_207352.4(CYP4V2):c.1157A>C (p.Lys386Thr)285440CYP4V2Pathogenicrs199476200RCV000032527; NMONDO:MONDO:0008865,MedGen:C1859486,OMIM:210370, Orphanet:417514187130085187130085AC4:g.187130085A>CClinGen:CA343706C1859486 210370 Bietti crystalline corneoretinal dystrophy;
NM_207352.4(CYP4V2):c.1169G>A (p.Arg390His)285440CYP4V2Pathogenicrs199476201RCV000032528; NMONDO:MONDO:0008865,MedGen:C1859486,OMIM:210370, Orphanet:417514187130097187130097GA4:g.187130097G>AClinGen:CA343708C1859486 210370 Bietti crystalline corneoretinal dystrophy;
NM_207352.4(CYP4V2):c.1169G>T (p.Arg390Leu)285440CYP4V2Likely pathogenicrs199476201RCV000987493; NMONDO:MONDO:0008865,MedGen:C1859486,OMIM:210370, Orphanet:417514187130097187130097GT4:g.187130097G>T-
NM_207352.4(CYP4V2):c.1184T>C (p.Val395Ala)285440CYP4V2Uncertain significance-1RCV001148840|RCV001148841; NHuman Phenotype Ontology:HP:0001131,Human Phenotype Ontology:HP:0007775,MONDO:MONDO:0018102,MedGen:C0010036, Orphanet:34533|MONDO:MONDO:0008865,MedGen:C1859486,OMIM:210370, Orphanet:417514187130112187130112TC4:g.187130112T>C-
NM_207352.4(CYP4V2):c.1187C>T (p.Pro396Leu)285440CYP4V2Pathogenicrs199476202RCV000032529; NMONDO:MONDO:0008865,MedGen:C1859486,OMIM:210370, Orphanet:417514187130115187130115CT4:g.187130115C>TClinGen:CA343710C1859486 210370 Bietti crystalline corneoretinal dystrophy;
NM_207352.4(CYP4V2):c.1198C>T (p.Arg400Cys)285440CYP4V2Conflicting interpretations of pathogenicityrs138444697RCV000032530|RCV000368904; NMONDO:MONDO:0008865,MedGen:C1859486,OMIM:210370, Orphanet:41751|MedGen:CN5172024187130126187130126CT4:g.187130126C>TClinGen:CA343712C1859486 210370 Bietti crystalline corneoretinal dystrophy;
NM_207352.4(CYP4V2):c.1199G>A (p.Arg400His)285440CYP4V2Likely pathogenicrs199476203RCV000032531|RCV000659009; NMONDO:MONDO:0008865,MedGen:C1859486,OMIM:210370, Orphanet:41751|MedGen:CN5172024187130127187130127GA4:g.187130127G>AClinGen:CA343714C1859486 210370 Bietti crystalline corneoretinal dystrophy;
NM_207352.4(CYP4V2):c.1225+14A>G285440CYP4V2Uncertain significancers886059282RCV000343164|RCV000405205; NMONDO:MONDO:0008865,MedGen:C1859486,OMIM:210370, Orphanet:41751|Human Phenotype Ontology:HP:0001131,Human Phenotype Ontology:HP:0007775,MONDO:MONDO:0018102,MedGen:C0010036, Orphanet:345334187130167187130167AG4:g.187130167A>GClinGen:CA10617506
NM_207352.4(CYP4V2):c.1226-6_1235del285440CYP4V2Pathogenicrs199476184RCV000032532; NMONDO:MONDO:0008865,MedGen:C1859486,OMIM:210370, Orphanet:417514187130241187130256TTGACAGCAGGTTACAGT4:g.187130241_187130256delClinGen:CA343716C1859486 210370 Bietti crystalline corneoretinal dystrophy;
NM_207352.4(CYP4V2):c.1289C>T (p.Pro430Leu)285440CYP4V2Uncertain significancers144008429RCV000298644|RCV000355789|RCV001055970; NHuman Phenotype Ontology:HP:0001131,Human Phenotype Ontology:HP:0007775,MONDO:MONDO:0018102,MedGen:C0010036, Orphanet:34533|MONDO:MONDO:0008865,MedGen:C1859486,OMIM:210370, Orphanet:41751|MedGen:CN5172024187130310187130310CT4:g.187130310C>TClinGen:CA3162819
NM_207352.4(CYP4V2):c.1328G>A (p.Arg443Gln)285440CYP4V2Conflicting interpretations of pathogenicityrs72646291RCV000594902|RCV001150364|RCV001150365; NMedGen:CN169374|Human Phenotype Ontology:HP:0001131,Human Phenotype Ontology:HP:0007775,MONDO:MONDO:0018102,MedGen:C0010036, Orphanet:34533|MONDO:MONDO:0008865,MedGen:C1859486,OMIM:210370, Orphanet:417514187130349187130349GA4:g.187130349G>AClinGen:CA3162830CN169374 not specified;
NM_207352.4(CYP4V2):c.1338C>G (p.Pro446=)285440CYP4V2Conflicting interpretations of pathogenicityrs35524919RCV000311613|RCV000405869; NHuman Phenotype Ontology:HP:0001131,Human Phenotype Ontology:HP:0007775,MONDO:MONDO:0018102,MedGen:C0010036, Orphanet:34533|MONDO:MONDO:0008865,MedGen:C1859486,OMIM:210370, Orphanet:417514187130359187130359CG4:g.187130359C>GClinGen:CA3162833
NM_207352.4(CYP4V2):c.1338C>T (p.Pro446=)285440CYP4V2Uncertain significance-1RCV001150366|RCV001150367; NMONDO:MONDO:0008865,MedGen:C1859486,OMIM:210370, Orphanet:41751|Human Phenotype Ontology:HP:0001131,Human Phenotype Ontology:HP:0007775,MONDO:MONDO:0018102,MedGen:C0010036, Orphanet:345334187130359187130359CT4:g.187130359C>T-
NM_207352.4(CYP4V2):c.1339G>A (p.Glu447Lys)285440CYP4V2Uncertain significancers200623218RCV000276069|RCV000368375|RCV001210445; NHuman Phenotype Ontology:HP:0001131,Human Phenotype Ontology:HP:0007775,MONDO:MONDO:0018102,MedGen:C0010036, Orphanet:34533|MONDO:MONDO:0008865,MedGen:C1859486,OMIM:210370, Orphanet:41751|MedGen:CN5172024187130360187130360GA4:g.187130360G>AClinGen:CA3162835
NM_207352.4(CYP4V2):c.1344T>C (p.Asn448=)285440CYP4V2Uncertain significance-1RCV001144278|RCV001144279; NMONDO:MONDO:0008865,MedGen:C1859486,OMIM:210370, Orphanet:41751|Human Phenotype Ontology:HP:0001131,Human Phenotype Ontology:HP:0007775,MONDO:MONDO:0018102,MedGen:C0010036, Orphanet:345334187130365187130365TC4:g.187130365T>C-
NM_207352.4(CYP4V2):c.1348C>T (p.Gln450Ter)285440CYP4V2Pathogenicrs199476204RCV000032533|RCV001046642; NMONDO:MONDO:0008865,MedGen:C1859486,OMIM:210370, Orphanet:41751|MedGen:CN5172024187130369187130369CT4:g.187130369C>TClinGen:CA343717,OMIM:608614.0008C1859486 210370 Bietti crystalline corneoretinal dystrophy;
NM_207352.4(CYP4V2):c.1396A>G (p.Asn466Asp)285440CYP4V2Pathogenicrs797045181RCV000191926; NMONDO:MONDO:0008865,MedGen:C1859486,OMIM:210370, Orphanet:417514187130417187130417AG4:g.187130417A>GOMIM:608614.0009,ClinGen:CA276932C1859486 210370 Bietti crystalline corneoretinal dystrophy;
NM_207352.4(CYP4V2):c.1423A>G (p.Met475Val)285440CYP4V2Uncertain significancers762821992RCV000333426|RCV000362424; NHuman Phenotype Ontology:HP:0001131,Human Phenotype Ontology:HP:0007775,MONDO:MONDO:0018102,MedGen:C0010036, Orphanet:34533|MONDO:MONDO:0008865,MedGen:C1859486,OMIM:210370, Orphanet:417514187131640187131640AG4:g.187131640A>GClinGen:CA3162860
NM_207352.4(CYP4V2):c.1445C>A (p.Ser482Ter)285440CYP4V2Pathogenicrs146494374RCV000032534; NMONDO:MONDO:0008865,MedGen:C1859486,OMIM:210370, Orphanet:417514187131662187131662CA4:g.187131662C>AClinGen:CA343719C1859486 210370 Bietti crystalline corneoretinal dystrophy;
NM_207352.4(CYP4V2):c.1446G>A (p.Ser482=)285440CYP4V2Conflicting interpretations of pathogenicityrs141950964RCV000174190|RCV000270346|RCV000327801|RCV000903076; NMedGen:CN169374|MONDO:MONDO:0008865,MedGen:C1859486,OMIM:210370, Orphanet:41751|Human Phenotype Ontology:HP:0001131,Human Phenotype Ontology:HP:0007775,MONDO:MONDO:0018102,MedGen:C0010036, Orphanet:34533|MedGen:CN5172024187131663187131663GA4:g.187131663G>AClinGen:CA200875C1859486 210370 Bietti crystalline corneoretinal dystrophy;
NM_207352.4(CYP4V2):c.1523G>A (p.Arg508His)285440CYP4V2Conflicting interpretations of pathogenicityrs119103284RCV000002273|RCV001238176; NMONDO:MONDO:0008865,MedGen:C1859486,OMIM:210370, Orphanet:41751|MedGen:CN5172024187131740187131740GA4:g.187131740G>AClinGen:CA339956,UniProtKB:Q6ZWL3#VAR_023091,OMIM:608614.0003C1859486 210370 Bietti crystalline corneoretinal dystrophy;
NM_207352.4(CYP4V2):c.1526C>T (p.Pro509Leu)285440CYP4V2Pathogenicrs199476205RCV000032535; NMONDO:MONDO:0008865,MedGen:C1859486,OMIM:210370, Orphanet:417514187131743187131743CT4:g.187131743C>TClinGen:CA343721C1859486 210370 Bietti crystalline corneoretinal dystrophy;
NM_207352.4(CYP4V2):c.1536C>T (p.Gly512=)285440CYP4V2Benign/Likely benignrs72646298RCV000283245|RCV000384580|RCV000968047; NMONDO:MONDO:0008865,MedGen:C1859486,OMIM:210370, Orphanet:41751|Human Phenotype Ontology:HP:0001131,Human Phenotype Ontology:HP:0007775,MONDO:MONDO:0018102,MedGen:C0010036, Orphanet:34533|MedGen:CN5172024187131753187131753CT4:g.187131753C>TClinGen:CA3162890
NM_207352.4(CYP4V2):c.*4T>C285440CYP4V2Conflicting interpretations of pathogenicityrs76978024RCV000153135|RCV000321446|RCV000378377; NMedGen:CN169374|Human Phenotype Ontology:HP:0001131,Human Phenotype Ontology:HP:0007775,MONDO:MONDO:0018102,MedGen:C0010036, Orphanet:34533|MONDO:MONDO:0008865,MedGen:C1859486,OMIM:210370, Orphanet:417514187131799187131799TC4:g.187131799T>CClinGen:CA179962C1859486 210370 Bietti crystalline corneoretinal dystrophy;
NM_207352.4(CYP4V2):c.*160A>G285440CYP4V2Uncertain significance-1RCV001146162|RCV001146163; NHuman Phenotype Ontology:HP:0001131,Human Phenotype Ontology:HP:0007775,MONDO:MONDO:0018102,MedGen:C0010036, Orphanet:34533|MONDO:MONDO:0008865,MedGen:C1859486,OMIM:210370, Orphanet:417514187131955187131955AG4:g.187131955A>G-
NM_207352.4(CYP4V2):c.*172T>C285440CYP4V2Uncertain significance-1RCV001146164|RCV001146165; NMONDO:MONDO:0008865,MedGen:C1859486,OMIM:210370, Orphanet:41751|Human Phenotype Ontology:HP:0001131,Human Phenotype Ontology:HP:0007775,MONDO:MONDO:0018102,MedGen:C0010036, Orphanet:345334187131967187131967TC4:g.187131967T>C-
NM_207352.4(CYP4V2):c.*175A>G285440CYP4V2Uncertain significancers192122143RCV000286343|RCV000334385; NMONDO:MONDO:0008865,MedGen:C1859486,OMIM:210370, Orphanet:41751|Human Phenotype Ontology:HP:0001131,Human Phenotype Ontology:HP:0007775,MONDO:MONDO:0018102,MedGen:C0010036, Orphanet:345334187131970187131970AG4:g.187131970A>GClinGen:CA10620659
NM_207352.4(CYP4V2):c.*210dup285440CYP4V2Likely benignrs199938898RCV000280770|RCV000393558; NMedGen:CN239343|MONDO:MONDO:0008865,MedGen:C1859486,OMIM:210370, Orphanet:417514187131993187131994AAT4:g.187131993_187131994insTClinGen:CA10620623
NM_207352.4(CYP4V2):c.*198A>T285440CYP4V2Uncertain significance-1RCV001148969|RCV001148970; NMONDO:MONDO:0008865,MedGen:C1859486,OMIM:210370, Orphanet:41751|Human Phenotype Ontology:HP:0001131,Human Phenotype Ontology:HP:0007775,MONDO:MONDO:0018102,MedGen:C0010036, Orphanet:345334187131993187131993AT4:g.187131993A>T-
NM_207352.4(CYP4V2):c.*204T>C285440CYP4V2Uncertain significance-1RCV001148971|RCV001148972; NHuman Phenotype Ontology:HP:0001131,Human Phenotype Ontology:HP:0007775,MONDO:MONDO:0018102,MedGen:C0010036, Orphanet:34533|MONDO:MONDO:0008865,MedGen:C1859486,OMIM:210370, Orphanet:417514187131999187131999TC4:g.187131999T>C-
NM_207352.4(CYP4V2):c.*232G>A285440CYP4V2Uncertain significance-1RCV001148973|RCV001148974; NHuman Phenotype Ontology:HP:0001131,Human Phenotype Ontology:HP:0007775,MONDO:MONDO:0018102,MedGen:C0010036, Orphanet:34533|MONDO:MONDO:0008865,MedGen:C1859486,OMIM:210370, Orphanet:417514187132027187132027GA4:g.187132027G>A-
NM_207352.4(CYP4V2):c.*282A>C285440CYP4V2Uncertain significance-1RCV001148975|RCV001150485; NMONDO:MONDO:0008865,MedGen:C1859486,OMIM:210370, Orphanet:41751|Human Phenotype Ontology:HP:0001131,Human Phenotype Ontology:HP:0007775,MONDO:MONDO:0018102,MedGen:C0010036, Orphanet:345334187132077187132077AC4:g.187132077A>C-
NM_207352.4(CYP4V2):c.*364T>A285440CYP4V2Uncertain significancers7697077RCV000338093|RCV000403319; NMONDO:MONDO:0008865,MedGen:C1859486,OMIM:210370, Orphanet:41751|Human Phenotype Ontology:HP:0001131,Human Phenotype Ontology:HP:0007775,MONDO:MONDO:0018102,MedGen:C0010036, Orphanet:345334187132159187132159TA4:g.187132159T>AClinGen:CA10617511
NM_207352.4(CYP4V2):c.*364T>G285440CYP4V2Benignrs7697077RCV000314055|RCV000371084; NHuman Phenotype Ontology:HP:0001131,Human Phenotype Ontology:HP:0007775,MONDO:MONDO:0018102,MedGen:C0010036, Orphanet:34533|MONDO:MONDO:0008865,MedGen:C1859486,OMIM:210370, Orphanet:417514187132159187132159TG4:g.187132159T>GClinGen:CA10620660
NM_207352.4(CYP4V2):c.*392G>A285440CYP4V2Uncertain significancers185369023RCV000308230|RCV000404407; NHuman Phenotype Ontology:HP:0001131,Human Phenotype Ontology:HP:0007775,MONDO:MONDO:0018102,MedGen:C0010036, Orphanet:34533|MONDO:MONDO:0008865,MedGen:C1859486,OMIM:210370, Orphanet:417514187132187187132187GA4:g.187132187G>AClinGen:CA10618429
NM_207352.4(CYP4V2):c.*449C>T285440CYP4V2Uncertain significance-1RCV001144392|RCV001144393; NMONDO:MONDO:0008865,MedGen:C1859486,OMIM:210370, Orphanet:41751|Human Phenotype Ontology:HP:0001131,Human Phenotype Ontology:HP:0007775,MONDO:MONDO:0018102,MedGen:C0010036, Orphanet:345334187132244187132244CT4:g.187132244C>T-
NM_207352.4(CYP4V2):c.*452C>T285440CYP4V2Uncertain significancers564129543RCV000272803|RCV000365059; NMONDO:MONDO:0008865,MedGen:C1859486,OMIM:210370, Orphanet:41751|Human Phenotype Ontology:HP:0001131,Human Phenotype Ontology:HP:0007775,MONDO:MONDO:0018102,MedGen:C0010036, Orphanet:345334187132247187132247CT4:g.187132247C>TClinGen:CA10618430
NM_207352.4(CYP4V2):c.*636A>G285440CYP4V2Uncertain significance-1RCV001144394|RCV001144395; NMONDO:MONDO:0008865,MedGen:C1859486,OMIM:210370, Orphanet:41751|Human Phenotype Ontology:HP:0001131,Human Phenotype Ontology:HP:0007775,MONDO:MONDO:0018102,MedGen:C0010036, Orphanet:345334187132431187132431AG4:g.187132431A>G-
NM_207352.4(CYP4V2):c.*659A>G285440CYP4V2Uncertain significancers886059284RCV000302235|RCV000359358; NHuman Phenotype Ontology:HP:0001131,Human Phenotype Ontology:HP:0007775,MONDO:MONDO:0018102,MedGen:C0010036, Orphanet:34533|MONDO:MONDO:0008865,MedGen:C1859486,OMIM:210370, Orphanet:417514187132454187132454AG4:g.187132454A>GClinGen:CA10620664
NM_207352.4(CYP4V2):c.*715C>T285440CYP4V2Uncertain significancers770372165RCV000267297|RCV000324782; NHuman Phenotype Ontology:HP:0001131,Human Phenotype Ontology:HP:0007775,MONDO:MONDO:0018102,MedGen:C0010036, Orphanet:34533|MONDO:MONDO:0008865,MedGen:C1859486,OMIM:210370, Orphanet:417514187132510187132510CT4:g.187132510C>TClinGen:CA10617514C1859486 210370 Bietti crystalline corneoretinal dystrophy;
NM_207352.4(CYP4V2):c.*725C>T285440CYP4V2Benignrs10033577RCV000261289|RCV000372346; NMONDO:MONDO:0008865,MedGen:C1859486,OMIM:210370, Orphanet:41751|Human Phenotype Ontology:HP:0001131,Human Phenotype Ontology:HP:0007775,MONDO:MONDO:0018102,MedGen:C0010036, Orphanet:345334187132520187132520CT4:g.187132520C>TClinGen:CA10618433C1859486 210370 Bietti crystalline corneoretinal dystrophy;
NM_207352.4(CYP4V2):c.*741C>T285440CYP4V2Benignrs10033581RCV000319021|RCV000376007; NHuman Phenotype Ontology:HP:0001131,Human Phenotype Ontology:HP:0007775,MONDO:MONDO:0018102,MedGen:C0010036, Orphanet:34533|MONDO:MONDO:0008865,MedGen:C1859486,OMIM:210370, Orphanet:417514187132536187132536CT4:g.187132536C>TClinGen:CA10620667C1859486 210370 Bietti crystalline corneoretinal dystrophy;
NM_207352.4(CYP4V2):c.*810C>G285440CYP4V2Uncertain significance-1RCV001149085|RCV001149086; NHuman Phenotype Ontology:HP:0001131,Human Phenotype Ontology:HP:0007775,MONDO:MONDO:0018102,MedGen:C0010036, Orphanet:34533|MONDO:MONDO:0008865,MedGen:C1859486,OMIM:210370, Orphanet:417514187132605187132605CG4:g.187132605C>G-
NM_207352.4(CYP4V2):c.*829C>T285440CYP4V2Uncertain significancers886059285RCV000293289|RCV000350529; NMONDO:MONDO:0008865,MedGen:C1859486,OMIM:210370, Orphanet:41751|Human Phenotype Ontology:HP:0001131,Human Phenotype Ontology:HP:0007775,MONDO:MONDO:0018102,MedGen:C0010036, Orphanet:345334187132624187132624CT4:g.187132624C>TClinGen:CA10620675C1859486 210370 Bietti crystalline corneoretinal dystrophy;
NM_207352.4(CYP4V2):c.*836C>A285440CYP4V2Uncertain significance-1RCV001149087|RCV001150596; NHuman Phenotype Ontology:HP:0001131,Human Phenotype Ontology:HP:0007775,MONDO:MONDO:0018102,MedGen:C0010036, Orphanet:34533|MONDO:MONDO:0008865,MedGen:C1859486,OMIM:210370, Orphanet:417514187132631187132631CA4:g.187132631C>A-
NM_207352.4(CYP4V2):c.*888G>A285440CYP4V2Uncertain significancers769774997RCV000295716|RCV000387655; NMONDO:MONDO:0008865,MedGen:C1859486,OMIM:210370, Orphanet:41751|Human Phenotype Ontology:HP:0001131,Human Phenotype Ontology:HP:0007775,MONDO:MONDO:0018102,MedGen:C0010036, Orphanet:345334187132683187132683GA4:g.187132683G>AClinGen:CA10620683C1859486 210370 Bietti crystalline corneoretinal dystrophy;
NM_207352.4(CYP4V2):c.*923G>A285440CYP4V2Uncertain significance-1RCV001150597|RCV001150598; NHuman Phenotype Ontology:HP:0001131,Human Phenotype Ontology:HP:0007775,MONDO:MONDO:0018102,MedGen:C0010036, Orphanet:34533|MONDO:MONDO:0008865,MedGen:C1859486,OMIM:210370, Orphanet:417514187132718187132718GA4:g.187132718G>A-
NM_207352.4(CYP4V2):c.*999C>T285440CYP4V2Uncertain significance-1RCV001150599|RCV001150600; NMONDO:MONDO:0008865,MedGen:C1859486,OMIM:210370, Orphanet:41751|Human Phenotype Ontology:HP:0001131,Human Phenotype Ontology:HP:0007775,MONDO:MONDO:0018102,MedGen:C0010036, Orphanet:345334187132794187132794CT4:g.187132794C>T-
NM_207352.4(CYP4V2):c.*1023_*1026del285440CYP4V2Uncertain significancers886059286RCV000343653|RCV000407547; NMedGen:CN239343|MONDO:MONDO:0008865,MedGen:C1859486,OMIM:210370, Orphanet:417514187132815187132818CACATC4:g.187132815_187132818delClinGen:CA10620624C1859486 210370 Bietti crystalline corneoretinal dystrophy;
NM_207352.4(CYP4V2):c.*1023_*1024del285440CYP4V2Uncertain significancers886059287RCV000309556|RCV000348016; NMONDO:MONDO:0008865,MedGen:C1859486,OMIM:210370, Orphanet:41751|MedGen:CN2393434187132817187132818CATC4:g.187132817_187132818delClinGen:CA10620684C1859486 210370 Bietti crystalline corneoretinal dystrophy;
NM_207352.4(CYP4V2):c.*1025_*1026CA[19]285440CYP4V2Uncertain significancers60425964RCV000297708|RCV000354873; NMedGen:CN239343|MONDO:MONDO:0008865,MedGen:C1859486,OMIM:210370, Orphanet:417514187132818187132819TTACACAC4:g.187132818_187132819insACACACClinGen:CA10617517C1859486 210370 Bietti crystalline corneoretinal dystrophy;
NM_207352.4(CYP4V2):c.*1023T>C285440CYP4V2Uncertain significancers62348764RCV000303628|RCV000402673; NHuman Phenotype Ontology:HP:0001131,Human Phenotype Ontology:HP:0007775,MONDO:MONDO:0018102,MedGen:C0010036, Orphanet:34533|MONDO:MONDO:0008865,MedGen:C1859486,OMIM:210370, Orphanet:417514187132818187132818TC4:g.187132818T>CClinGen:CA10618435C1859486 210370 Bietti crystalline corneoretinal dystrophy;
NM_207352.4(CYP4V2):c.*1025_*1026CA[18]285440CYP4V2Uncertain significancers60425964RCV000268220|RCV000360613; NMONDO:MONDO:0008865,MedGen:C1859486,OMIM:210370, Orphanet:41751|MedGen:CN2393434187132818187132819TTACAC4:g.187132818_187132819insACACClinGen:CA10618437C1859486 210370 Bietti crystalline corneoretinal dystrophy;
NM_207352.4(CYP4V2):c.*1027C>T285440CYP4V2Conflicting interpretations of pathogenicityrs541778964RCV000262151|RCV000319706; NHuman Phenotype Ontology:HP:0001131,Human Phenotype Ontology:HP:0007775,MONDO:MONDO:0018102,MedGen:C0010036, Orphanet:34533|MONDO:MONDO:0008865,MedGen:C1859486,OMIM:210370, Orphanet:417514187132822187132822CT4:g.187132822C>TClinGen:CA10618436C1859486 210370 Bietti crystalline corneoretinal dystrophy;
NM_207352.4(CYP4V2):c.*1052A>T285440CYP4V2Uncertain significance-1RCV001144504|RCV001144505; NMONDO:MONDO:0008865,MedGen:C1859486,OMIM:210370, Orphanet:41751|Human Phenotype Ontology:HP:0001131,Human Phenotype Ontology:HP:0007775,MONDO:MONDO:0018102,MedGen:C0010036, Orphanet:345334187132847187132847AT4:g.187132847A>T-
NM_207352.4(CYP4V2):c.*1053C>T285440CYP4V2Uncertain significancers62348765RCV000283161|RCV000384651; NMONDO:MONDO:0008865,MedGen:C1859486,OMIM:210370, Orphanet:41751|Human Phenotype Ontology:HP:0001131,Human Phenotype Ontology:HP:0007775,MONDO:MONDO:0018102,MedGen:C0010036, Orphanet:345334187132848187132848CT4:g.187132848C>TClinGen:CA10617518C1859486 210370 Bietti crystalline corneoretinal dystrophy;
NM_207352.4(CYP4V2):c.*1056_*1057insCATACA285440CYP4V2Uncertain significancers1554075269RCV000333528|RCV000381066; NMONDO:MONDO:0008865,MedGen:C1859486,OMIM:210370, Orphanet:41751|MedGen:CN2393434187132848187132849CCACACAT4:g.187132848_187132849insACACATClinGen:CA10617519C1859486 210370 Bietti crystalline corneoretinal dystrophy;
NM_207352.4(CYP4V2):c.*1054_*1055insTA285440CYP4V2Uncertain significancers144125100RCV000288905|RCV000346230; NMONDO:MONDO:0008865,MedGen:C1859486,OMIM:210370, Orphanet:41751|MedGen:CN2393434187132848187132849CCAT4:g.187132848_187132849insATClinGen:CA10620625C1859486 210370 Bietti crystalline corneoretinal dystrophy;
NM_207352.4(CYP4V2):c.*1056_*1057insCACACATACA285440CYP4V2Uncertain significancers1554075269RCV000275244|RCV000385954; NMONDO:MONDO:0008865,MedGen:C1859486,OMIM:210370, Orphanet:41751|MedGen:CN2393434187132848187132849CCACACACACAT4:g.187132848_187132849insACACACACATClinGen:CA10620695C1859486 210370 Bietti crystalline corneoretinal dystrophy;
NM_207352.4(CYP4V2):c.*1057delinsCACACACACATACAC285440CYP4V2Uncertain significancers869178465RCV000277649|RCV000325652; NMedGen:CN239343|MONDO:MONDO:0008865,MedGen:C1859486,OMIM:210370, Orphanet:417514187132852187132852TCACACACACATACAC4:g.187132852_187132853insACACACACATACACClinGen:CA10618440
NM_207352.4(CYP4V2):c.*1057delinsCACACACACAC285440CYP4V2Uncertain significancers869178465RCV000305076|RCV000334310; NMONDO:MONDO:0008865,MedGen:C1859486,OMIM:210370, Orphanet:41751|MedGen:CN2393434187132852187132852TCACACACACAC4:g.187132852_187132853insACACACACACClinGen:CA10620626
NM_207352.4(CYP4V2):c.*1057delinsCACACACACACACAC285440CYP4V2Uncertain significancers869178465RCV000299629|RCV000405099; NMONDO:MONDO:0008865,MedGen:C1859486,OMIM:210370, Orphanet:41751|MedGen:CN2393434187132852187132852TCACACACACACACAC4:g.187132852_187132853insACACACACACACACClinGen:CA10620627
NM_207352.4(CYP4V2):c.*1057delinsCACACACACACACACACACACATACAC285440CYP4V2Uncertain significancers869178465RCV000312380|RCV000369445; NMedGen:CN239343|MONDO:MONDO:0008865,MedGen:C1859486,OMIM:210370, Orphanet:417514187132852187132852TCACACACACACACACACACACATACAC4:g.187132852_187132853insACACACACACACACACACACATACACClinGen:CA10620628
NM_207352.4(CYP4V2):c.*1059_*1060CA[5]285440CYP4V2Uncertain significancers58524374RCV000284688|RCV000323312; NMedGen:CN239343|MONDO:MONDO:0008865,MedGen:C1859486,OMIM:210370, Orphanet:417514187132852187132853TTACAC4:g.187132852_187132853insACACClinGen:CA10620639
NM_207352.4(CYP4V2):c.*1057T>C285440CYP4V2Uncertain significancers62348766RCV000279040|RCV000380500; NMONDO:MONDO:0008865,MedGen:C1859486,OMIM:210370, Orphanet:41751|Human Phenotype Ontology:HP:0001131,Human Phenotype Ontology:HP:0007775,MONDO:MONDO:0018102,MedGen:C0010036, Orphanet:345334187132852187132852TC4:g.187132852T>CClinGen:CA10620696C1859486 210370 Bietti crystalline corneoretinal dystrophy;
NM_207352.4(CYP4V2):c.*1057delinsCACACACAC285440CYP4V2Uncertain significancers869178465RCV000340628|RCV000390978; NMedGen:CN239343|MONDO:MONDO:0008865,MedGen:C1859486,OMIM:210370, Orphanet:417514187132852187132852TCACACACAC4:g.187132852_187132853insACACACACClinGen:CA10620701
NM_207352.4(CYP4V2):c.*1057delinsCACACACACACACACACACAC285440CYP4V2Uncertain significancers869178465RCV000356771|RCV000403070; NMONDO:MONDO:0008865,MedGen:C1859486,OMIM:210370, Orphanet:41751|MedGen:CN2393434187132852187132852TCACACACACACACACACACAC4:g.187132852_187132853insACACACACACACACACACACClinGen:CA10620702
NM_207352.4(CYP4V2):c.*1057delinsCACACATACAC285440CYP4V2Uncertain significancers869178465RCV000271858|RCV000364101; NMedGen:CN239343|MONDO:MONDO:0008865,MedGen:C1859486,OMIM:210370, Orphanet:417514187132852187132852TCACACATACAC4:g.187132852_187132853insACACATACACClinGen:CA10620706
NM_207352.4(CYP4V2):c.*1057delinsCACATACAC285440CYP4V2Uncertain significancers869178465RCV000329024|RCV000376669; NMedGen:CN239343|MONDO:MONDO:0008865,MedGen:C1859486,OMIM:210370, Orphanet:417514187132852187132852TCACATACAC4:g.187132852_187132853insACATACACClinGen:CA10620707
NM_207352.4(CYP4V2):c.*1123_*1127del285440CYP4V2Uncertain significancers574084304RCV000336314|RCV000393774; NMedGen:CN239343|MONDO:MONDO:0008865,MedGen:C1859486,OMIM:210370, Orphanet:417514187132914187132918AATTATA4:g.187132914_187132918delClinGen:CA10617522
NM_207352.4(CYP4V2):c.*1148A>G285440CYP4V2Benignrs10011736RCV000282669|RCV000349258; NMONDO:MONDO:0008865,MedGen:C1859486,OMIM:210370, Orphanet:41751|Human Phenotype Ontology:HP:0001131,Human Phenotype Ontology:HP:0007775,MONDO:MONDO:0018102,MedGen:C0010036, Orphanet:345334187132943187132943AG4:g.187132943A>GClinGen:CA10620640
NM_207352.4(CYP4V2):c.*1159T>A285440CYP4V2Uncertain significancers565805219RCV000314396|RCV000393783; NMONDO:MONDO:0008865,MedGen:C1859486,OMIM:210370, Orphanet:41751|Human Phenotype Ontology:HP:0001131,Human Phenotype Ontology:HP:0007775,MONDO:MONDO:0018102,MedGen:C0010036, Orphanet:345334187132954187132954TA4:g.187132954T>AClinGen:CA10617524
NM_207352.4(CYP4V2):c.*1236A>T285440CYP4V2Benignrs1053094RCV000362119|RCV000405427; NMONDO:MONDO:0008865,MedGen:C1859486,OMIM:210370, Orphanet:41751|Human Phenotype Ontology:HP:0001131,Human Phenotype Ontology:HP:0007775,MONDO:MONDO:0018102,MedGen:C0010036, Orphanet:345334187133031187133031AT4:g.187133031A>TClinGen:CA10617527
NM_207352.4(CYP4V2):c.*1238C>T285440CYP4V2Uncertain significance-1RCV001149210|RCV001149211; NMONDO:MONDO:0008865,MedGen:C1859486,OMIM:210370, Orphanet:41751|Human Phenotype Ontology:HP:0001131,Human Phenotype Ontology:HP:0007775,MONDO:MONDO:0018102,MedGen:C0010036, Orphanet:345334187133033187133033CT4:g.187133033C>T-
NM_207352.4(CYP4V2):c.*1317T>C285440CYP4V2Uncertain significancers886059291RCV000313156|RCV000367772; NMONDO:MONDO:0008865,MedGen:C1859486,OMIM:210370, Orphanet:41751|Human Phenotype Ontology:HP:0001131,Human Phenotype Ontology:HP:0007775,MONDO:MONDO:0018102,MedGen:C0010036, Orphanet:345334187133112187133112TC4:g.187133112T>CClinGen:CA10618443
NM_207352.4(CYP4V2):c.*1417T>A285440CYP4V2Uncertain significancers886059292RCV000263697|RCV000318941; NMONDO:MONDO:0008865,MedGen:C1859486,OMIM:210370, Orphanet:41751|Human Phenotype Ontology:HP:0001131,Human Phenotype Ontology:HP:0007775,MONDO:MONDO:0018102,MedGen:C0010036, Orphanet:345334187133212187133212TA4:g.187133212T>AClinGen:CA10620710
NM_207352.4(CYP4V2):c.*1463G>C285440CYP4V2Uncertain significance-1RCV001149212|RCV001150709; NMONDO:MONDO:0008865,MedGen:C1859486,OMIM:210370, Orphanet:41751|Human Phenotype Ontology:HP:0001131,Human Phenotype Ontology:HP:0007775,MONDO:MONDO:0018102,MedGen:C0010036, Orphanet:345334187133258187133258GC4:g.187133258G>C-
NM_207352.4(CYP4V2):c.*1474G>T285440CYP4V2Conflicting interpretations of pathogenicity-1RCV001150710|RCV001150711; NHuman Phenotype Ontology:HP:0001131,Human Phenotype Ontology:HP:0007775,MONDO:MONDO:0018102,MedGen:C0010036, Orphanet:34533|MONDO:MONDO:0008865,MedGen:C1859486,OMIM:210370, Orphanet:417514187133269187133269GT4:g.187133269G>T-
NM_207352.4(CYP4V2):c.*1496G>C285440CYP4V2Uncertain significance-1RCV001150712|RCV001150713; NMONDO:MONDO:0008865,MedGen:C1859486,OMIM:210370, Orphanet:41751|Human Phenotype Ontology:HP:0001131,Human Phenotype Ontology:HP:0007775,MONDO:MONDO:0018102,MedGen:C0010036, Orphanet:345334187133291187133291GC4:g.187133291G>C-
NM_207352.4(CYP4V2):c.*1503A>C285440CYP4V2Uncertain significance-1RCV001150714; NMONDO:MONDO:0008865,MedGen:C1859486,OMIM:210370, Orphanet:417514187133298187133298AC4:g.187133298A>C-
NM_207352.4(CYP4V2):c.*1589C>T285440CYP4V2Uncertain significance-1RCV001150715|RCV001150716; NMONDO:MONDO:0008865,MedGen:C1859486,OMIM:210370, Orphanet:41751|Human Phenotype Ontology:HP:0001131,Human Phenotype Ontology:HP:0007775,MONDO:MONDO:0018102,MedGen:C0010036, Orphanet:345334187133384187133384CT4:g.187133384C>T-
NM_207352.4(CYP4V2):c.*1638G>A285440CYP4V2Likely benignrs72646300RCV000260161|RCV000354947; NHuman Phenotype Ontology:HP:0001131,Human Phenotype Ontology:HP:0007775,MONDO:MONDO:0018102,MedGen:C0010036, Orphanet:34533|MONDO:MONDO:0008865,MedGen:C1859486,OMIM:210370, Orphanet:417514187133433187133433GA4:g.187133433G>AClinGen:CA10620642
NM_207352.4(CYP4V2):c.*1690C>T285440CYP4V2Uncertain significance-1RCV001144615|RCV001144616; NMONDO:MONDO:0008865,MedGen:C1859486,OMIM:210370, Orphanet:41751|Human Phenotype Ontology:HP:0001131,Human Phenotype Ontology:HP:0007775,MONDO:MONDO:0018102,MedGen:C0010036, Orphanet:345334187133485187133485CT4:g.187133485C>T-
NM_207352.4(CYP4V2):c.*1705C>T285440CYP4V2Uncertain significance-1RCV001144617|RCV001144618; NHuman Phenotype Ontology:HP:0001131,Human Phenotype Ontology:HP:0007775,MONDO:MONDO:0018102,MedGen:C0010036, Orphanet:34533|MONDO:MONDO:0008865,MedGen:C1859486,OMIM:210370, Orphanet:417514187133500187133500CT4:g.187133500C>T-
NM_207352.4(CYP4V2):c.*1721A>G285440CYP4V2Uncertain significance-1RCV001144619|RCV001144620; NMONDO:MONDO:0008865,MedGen:C1859486,OMIM:210370, Orphanet:41751|Human Phenotype Ontology:HP:0001131,Human Phenotype Ontology:HP:0007775,MONDO:MONDO:0018102,MedGen:C0010036, Orphanet:345334187133516187133516AG4:g.187133516A>G-
NM_207352.4(CYP4V2):c.*1722T>C285440CYP4V2Uncertain significance-1RCV001146551|RCV001146552; NMONDO:MONDO:0008865,MedGen:C1859486,OMIM:210370, Orphanet:41751|Human Phenotype Ontology:HP:0001131,Human Phenotype Ontology:HP:0007775,MONDO:MONDO:0018102,MedGen:C0010036, Orphanet:345334187133517187133517TC4:g.187133517T>C-
NM_207352.4(CYP4V2):c.*1737A>G285440CYP4V2Conflicting interpretations of pathogenicityrs78965616RCV000324587|RCV000379092; NHuman Phenotype Ontology:HP:0001131,Human Phenotype Ontology:HP:0007775,MONDO:MONDO:0018102,MedGen:C0010036, Orphanet:34533|MONDO:MONDO:0008865,MedGen:C1859486,OMIM:210370, Orphanet:417514187133532187133532AG4:g.187133532A>GClinGen:CA10620648
NM_207352.4(CYP4V2):c.*1756T>C285440CYP4V2Uncertain significance-1RCV001146553|RCV001146554; NHuman Phenotype Ontology:HP:0001131,Human Phenotype Ontology:HP:0007775,MONDO:MONDO:0018102,MedGen:C0010036, Orphanet:34533|MONDO:MONDO:0008865,MedGen:C1859486,OMIM:210370, Orphanet:417514187133551187133551TC4:g.187133551T>C-
NM_207352.4(CYP4V2):c.*1774C>T285440CYP4V2Uncertain significancers779828762RCV000284732|RCV000321078; NHuman Phenotype Ontology:HP:0001131,Human Phenotype Ontology:HP:0007775,MONDO:MONDO:0018102,MedGen:C0010036, Orphanet:34533|MONDO:MONDO:0008865,MedGen:C1859486,OMIM:210370, Orphanet:417514187133569187133569CT4:g.187133569C>TClinGen:CA10618444
NM_207352.4(CYP4V2):c.*1781A>C285440CYP4V2Benignrs6842047RCV000290603|RCV000384730; NHuman Phenotype Ontology:HP:0001131,Human Phenotype Ontology:HP:0007775,MONDO:MONDO:0018102,MedGen:C0010036, Orphanet:34533|MONDO:MONDO:0008865,MedGen:C1859486,OMIM:210370, Orphanet:417514187133576187133576AC4:g.187133576A>CClinGen:CA10618446
NM_207352.4(CYP4V2):c.*1851A>G285440CYP4V2Uncertain significancers886059293RCV000345533|RCV000381406; NHuman Phenotype Ontology:HP:0001131,Human Phenotype Ontology:HP:0007775,MONDO:MONDO:0018102,MedGen:C0010036, Orphanet:34533|MONDO:MONDO:0008865,MedGen:C1859486,OMIM:210370, Orphanet:417514187133646187133646AG4:g.187133646A>GClinGen:CA10618449
NM_207352.4(CYP4V2):c.*1967C>T285440CYP4V2Uncertain significancers886059294RCV000296044|RCV000350968; NMedGen:CN239343|MONDO:MONDO:0008865,MedGen:C1859486,OMIM:210370, Orphanet:417514187133762187133762CT4:g.187133762C>TClinGen:CA10618455
NM_207352.4(CYP4V2):c.*1986G>A285440CYP4V2Uncertain significance-1RCV001149317|RCV001149318; NMONDO:MONDO:0008865,MedGen:C1859486,OMIM:210370, Orphanet:41751|Human Phenotype Ontology:HP:0001131,Human Phenotype Ontology:HP:0007775,MONDO:MONDO:0018102,MedGen:C0010036, Orphanet:345334187133781187133781GA4:g.187133781G>A-
NM_207352.4(CYP4V2):c.*2010G>A285440CYP4V2Uncertain significance-1RCV001150820|RCV001150821; NHuman Phenotype Ontology:HP:0001131,Human Phenotype Ontology:HP:0007775,MONDO:MONDO:0018102,MedGen:C0010036, Orphanet:34533|MONDO:MONDO:0008865,MedGen:C1859486,OMIM:210370, Orphanet:417514187133805187133805GA4:g.187133805G>A-
NM_207352.4(CYP4V2):c.*2017T>C285440CYP4V2Uncertain significancers886059295RCV000311285|RCV000393019; NHuman Phenotype Ontology:HP:0001131,Human Phenotype Ontology:HP:0007775,MONDO:MONDO:0018102,MedGen:C0010036, Orphanet:34533|MONDO:MONDO:0008865,MedGen:C1859486,OMIM:210370, Orphanet:417514187133812187133812TC4:g.187133812T>CClinGen:CA10618458
NM_207352.4(CYP4V2):c.*2078T>C285440CYP4V2Uncertain significance-1RCV001150822|RCV001150823; NHuman Phenotype Ontology:HP:0001131,Human Phenotype Ontology:HP:0007775,MONDO:MONDO:0018102,MedGen:C0010036, Orphanet:34533|MONDO:MONDO:0008865,MedGen:C1859486,OMIM:210370, Orphanet:417514187133873187133873TC4:g.187133873T>C-
NM_207352.4(CYP4V2):c.*2106G>T285440CYP4V2Benign/Likely benignrs72646302RCV000338240|RCV000403840; NHuman Phenotype Ontology:HP:0001131,Human Phenotype Ontology:HP:0007775,MONDO:MONDO:0018102,MedGen:C0010036, Orphanet:34533|MONDO:MONDO:0008865,MedGen:C1859486,OMIM:210370, Orphanet:417514187133901187133901GT4:g.187133901G>TClinGen:CA10620654
NM_207352.4(CYP4V2):c.*2116A>C285440CYP4V2Uncertain significance-1RCV001144707|RCV001144708; NMONDO:MONDO:0008865,MedGen:C1859486,OMIM:210370, Orphanet:41751|Human Phenotype Ontology:HP:0001131,Human Phenotype Ontology:HP:0007775,MONDO:MONDO:0018102,MedGen:C0010036, Orphanet:345334187133911187133911AC4:g.187133911A>C-
NM_207352.4(CYP4V2):c.*2139G>A285440CYP4V2Uncertain significance-1RCV001144709|RCV001144710; NMONDO:MONDO:0008865,MedGen:C1859486,OMIM:210370, Orphanet:41751|Human Phenotype Ontology:HP:0001131,Human Phenotype Ontology:HP:0007775,MONDO:MONDO:0018102,MedGen:C0010036, Orphanet:345334187133934187133934GA4:g.187133934G>A-
NM_207352.4(CYP4V2):c.*2163G>A285440CYP4V2Uncertain significance-1RCV001144711|RCV001144712; NHuman Phenotype Ontology:HP:0001131,Human Phenotype Ontology:HP:0007775,MONDO:MONDO:0018102,MedGen:C0010036, Orphanet:34533|MONDO:MONDO:0008865,MedGen:C1859486,OMIM:210370, Orphanet:417514187133958187133958GA4:g.187133958G>A-
NM_207352.4(CYP4V2):c.*2166C>G285440CYP4V2Conflicting interpretations of pathogenicity-1RCV001144713|RCV001144714; NHuman Phenotype Ontology:HP:0001131,Human Phenotype Ontology:HP:0007775,MONDO:MONDO:0018102,MedGen:C0010036, Orphanet:34533|MONDO:MONDO:0008865,MedGen:C1859486,OMIM:210370, Orphanet:417514187133961187133961CG4:g.187133961C>G-
NM_207352.4(CYP4V2):c.*2176T>C285440CYP4V2Uncertain significancers543284486RCV000298538|RCV000353437; NHuman Phenotype Ontology:HP:0001131,Human Phenotype Ontology:HP:0007775,MONDO:MONDO:0018102,MedGen:C0010036, Orphanet:34533|MONDO:MONDO:0008865,MedGen:C1859486,OMIM:210370, Orphanet:417514187133971187133971TC4:g.187133971T>CClinGen:CA10617533
NM_207352.4(CYP4V2):c.*2189A>G285440CYP4V2Uncertain significance-1RCV001146670|RCV001146671; NHuman Phenotype Ontology:HP:0001131,Human Phenotype Ontology:HP:0007775,MONDO:MONDO:0018102,MedGen:C0010036, Orphanet:34533|MONDO:MONDO:0008865,MedGen:C1859486,OMIM:210370, Orphanet:417514187133984187133984AG4:g.187133984A>G-
NM_207352.4(CYP4V2):c.*2266A>G285440CYP4V2Uncertain significance-1RCV001146672|RCV001146673; NMONDO:MONDO:0008865,MedGen:C1859486,OMIM:210370, Orphanet:41751|Human Phenotype Ontology:HP:0001131,Human Phenotype Ontology:HP:0007775,MONDO:MONDO:0018102,MedGen:C0010036, Orphanet:345334187134061187134061AG4:g.187134061A>G-
NM_207352.4(CYP4V2):c.*2281A>G285440CYP4V2Uncertain significance-1RCV001146674|RCV001146675; NHuman Phenotype Ontology:HP:0001131,Human Phenotype Ontology:HP:0007775,MONDO:MONDO:0018102,MedGen:C0010036, Orphanet:34533|MONDO:MONDO:0008865,MedGen:C1859486,OMIM:210370, Orphanet:417514187134076187134076AG4:g.187134076A>G-
NM_207352.4(CYP4V2):c.*2303G>C285440CYP4V2Benign/Likely benignrs576134216RCV000268042|RCV000304411; NMONDO:MONDO:0008865,MedGen:C1859486,OMIM:210370, Orphanet:41751|Human Phenotype Ontology:HP:0001131,Human Phenotype Ontology:HP:0007775,MONDO:MONDO:0018102,MedGen:C0010036, Orphanet:345334187134098187134098GC4:g.187134098G>CClinGen:CA10617534
NM_207352.4(CYP4V2):c.*2373G>C285440CYP4V2Uncertain significance-1RCV001147579|RCV001147580; NMONDO:MONDO:0008865,MedGen:C1859486,OMIM:210370, Orphanet:41751|Human Phenotype Ontology:HP:0001131,Human Phenotype Ontology:HP:0007775,MONDO:MONDO:0018102,MedGen:C0010036, Orphanet:345334187134168187134168GC4:g.187134168G>C-
NM_207352.4(CYP4V2):c.*2399C>T285440CYP4V2Benignrs56413992RCV000264412|RCV000359163; NHuman Phenotype Ontology:HP:0001131,Human Phenotype Ontology:HP:0007775,MONDO:MONDO:0018102,MedGen:C0010036, Orphanet:34533|MONDO:MONDO:0008865,MedGen:C1859486,OMIM:210370, Orphanet:417514187134194187134194CT4:g.187134194C>TClinGen:CA10620725
NM_207352.4(CYP4V2):c.*2590T>C285440CYP4V2Uncertain significance-1RCV001147581|RCV001147582; NHuman Phenotype Ontology:HP:0001131,Human Phenotype Ontology:HP:0007775,MONDO:MONDO:0018102,MedGen:C0010036, Orphanet:34533|MONDO:MONDO:0008865,MedGen:C1859486,OMIM:210370, Orphanet:417514187134385187134385TC4:g.187134385T>C-
NM_207352.4(CYP4V2):c.*2622A>T285440CYP4V2Uncertain significancers561265305RCV000328778|RCV000383422; NHuman Phenotype Ontology:HP:0001131,Human Phenotype Ontology:HP:0007775,MONDO:MONDO:0018102,MedGen:C0010036, Orphanet:34533|MONDO:MONDO:0008865,MedGen:C1859486,OMIM:210370, Orphanet:417514187134417187134417AT4:g.187134417A>TClinGen:CA10617536
NM_207352.4(CYP4V2):c.*2708A>G285440CYP4V2Uncertain significance-1RCV001150905|RCV001150906; NHuman Phenotype Ontology:HP:0001131,Human Phenotype Ontology:HP:0007775,MONDO:MONDO:0018102,MedGen:C0010036, Orphanet:34533|MONDO:MONDO:0008865,MedGen:C1859486,OMIM:210370, Orphanet:417514187134503187134503AG4:g.187134503A>G-
NM_207352.4(CYP4V2):c.*2748A>G285440CYP4V2Uncertain significancers111816209RCV000270237|RCV000325295; NMONDO:MONDO:0008865,MedGen:C1859486,OMIM:210370, Orphanet:41751|Human Phenotype Ontology:HP:0001131,Human Phenotype Ontology:HP:0007775,MONDO:MONDO:0018102,MedGen:C0010036, Orphanet:345334187134543187134543AG4:g.187134543A>GClinGen:CA10620671
NM_207352.4(CYP4V2):c.*2751A>G285440CYP4V2Uncertain significance-1RCV001150907|RCV001150908; NHuman Phenotype Ontology:HP:0001131,Human Phenotype Ontology:HP:0007775,MONDO:MONDO:0018102,MedGen:C0010036, Orphanet:34533|MONDO:MONDO:0008865,MedGen:C1859486,OMIM:210370, Orphanet:417514187134546187134546AG4:g.187134546A>G-
MSeqDR Portal