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Corneal Dystrophies, Hereditary (D003317)
..Starting node
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Corneal Dystrophy, Fleck (C563256)

       Child Nodes:



 Sister Nodes: 
..expandBietti Crystalline Dystrophy (C535440)
..expandBrachymesomelia renal syndrome (C537096)
..expandChorioretinal atrophy, progressive bifocal (C535356)
..expandCongenital Corneal Opacities, Cornea Guttata, and Corectopia (C563921)
..expandCorneal cerebellar syndrome (C535472)
..expandCorneal Degeneration, Ribbonlike, with Deafness (C565157)
..expandCorneal dystrophy and perceptive deafness (C535473)
..expandCorneal dystrophy Avellino type (C535474)
..expandCorneal dystrophy of Bowman layer, type 1 (C535476)
..expandCorneal Dystrophy, Band-Shaped (C562399)
..expandCorneal Dystrophy, Central Type (C563262)
..expandCorneal Dystrophy, Congenital Stromal (C566452)
..expandCorneal Dystrophy, Crystalline, of Schnyder (C535475)
..expandCorneal Dystrophy, Endothelial, X-Linked (C567587)
..expandCorneal Dystrophy, Fleck (C563256)
..expandCorneal dystrophy, gelatinous drop-like (C535480)
..expandCorneal Dystrophy, Juvenile Epithelial of Meesmann (D053559)
..expandCorneal Dystrophy, Lattice Type IIIA (C563923)
..expandCorneal Dystrophy, Lisch Epithelial (C567588)
..expandCorneal Dystrophy, Posterior Amorphous (C567546)
..expandCorneal Dystrophy, Posterior Polymorphous, 1 (C562745)
..expandCorneal Dystrophy, Posterior Polymorphous, 2 (C565176)
..expandCorneal Dystrophy, Posterior Polymorphous, 3 (C563788)
..expandCorneal Dystrophy, Subepithelial Mucinous (C567547)
..expandCorneal dystrophy, Thiel-Behnke type (C535942)
..expandCorneal Endothelial Dystrophy 1 (C565156)
..expandCorneal endothelial dystrophy type 2 (C536439)
..expandCorneodermatoosseous syndrome (C536444)
..expandDermochondrocorneal dystrophy of FrančŽ½ois (C535375)
..expandEDICT SYNDROME (OMIM:614303)
..expandEndothelial Dystrophy, Congenital Hereditary, with Nail Hypoplasia (C565591)
..expandEpithelial Recurrent Erosion Dystrophy (C565155)
..expandFuchs' Endothelial Dystrophy (D005642) Child10
..expandGroenouw type I corneal dystrophy (C537304)
..expandIchthyosiform erythroderma, corneal involvement, deafness (C537363)
..expandJudge Misch Wright syndrome (C537692)
..expandKuster Majewski Hammerstein syndrome (C538125)
..expandLattice corneal dystrophy type 1 (C537881)
..expandMacular Corneal Dystrophy, Type II (C563270)
..expandMacular dystrophy, corneal type 1 (C537834)
..expandMacular Dystrophy, Fenestrated Sheen Type (C563607)
..expandMacular dystrophy, retinal, 1, North Carolina type (C537835)
..expandMacular Dystrophy, Retinal, 2 (C562746)
..expandMeretoja syndrome (C537459)
..expandMICROCORNEA, MYOPIC CHORIORETINAL ATROPHY, AND TELECANTHUS (OMIM:615458)
..expandMousa Al din Al Nassar syndrome (C536989)
..expandO'Donnell Pappas syndrome (C537858)
..expandOculodental syndrome Rutherfurd syndrome (C537732)
..expandPseudoinflammatory fundus dystrophy, Finnish type (C535828)
..expandSammartino De Crecchio Syndrome (C537229)
..expandSpondyloepiphyseal Dysplasia With Punctate Corneal Dystrophy (C566660)
..expandSveinsson Chorioretinal Atrophy (C566236)
   

Human Disease MESH is developed by UMLS.
Further data from MedGen, OMIM,ClinVar, CTD
Term ID:3015
Name:Corneal Dystrophy, Fleck
Definition:
Alternative IDs:DO:DOID:0060448|OMIM:121850
ParentIDs:MESH:D003317
TreeNumbers:C11.204.236/C563256 |C11.270.162/C563256 |C16.320.290.162/C563256
Synonyms:CFD |Corneal Dystrophy, Francois-Neetens Speckled or Flecked |FCD |Fleck Corneal Dystrophy
Slim Mappings:Eye disease|Genetic disease (inborn)
Reference: MedGen: C563256
MeSH: C563256
OMIM: 121850;
MSeqDR LSDB:  
Genes: PIKFYVE;
Phenotypes
1 HP:0000006Autosomal dominant inheritance
2 HP:0000613Photophobia
3 HP:0007962Speckled corneal dystrophy
Disease Causing ClinVar Variants
Variation_NameGeneIDGeneSymbolClinicalSignificancedbSNPRCVaccessionTestedInGTRPhenotypeIDsChromosomeStartStopHGVS_cHGVS_pHGVS_gOtherIDsDisease_ClinVar
NM_015040.4(PIKFYVE):c.-166A>T200576PIKFYVELikely benignrs530975785RCV000287642; NMONDO:MONDO:0007376,MedGen:C1562113,OMIM:121850, Orphanet:9897022091309832091309832:g.209130983A>TClinGen:CA10654616C1562113 121850 Fleck corneal dystrophy;
NM_015040.4(PIKFYVE):c.-160A>G200576PIKFYVEBenignrs34366347RCV000344924; NMONDO:MONDO:0007376,MedGen:C1562113,OMIM:121850, Orphanet:9897022091309892091309892:g.209130989A>GClinGen:CA10654617C1562113 121850 Fleck corneal dystrophy;
NM_015040.4(PIKFYVE):c.-157A>T200576PIKFYVEUncertain significancers886055529RCV000271310; NMONDO:MONDO:0007376,MedGen:C1562113,OMIM:121850, Orphanet:9897022091309922091309922:g.209130992A>TClinGen:CA10612219C1562113 121850 Fleck corneal dystrophy;
NM_015040.4(PIKFYVE):c.-153A>T200576PIKFYVEUncertain significancers1037223631RCV001137412; NMONDO:MONDO:0007376,MedGen:C1562113,OMIM:121850, Orphanet:9897022091309962091309962:g.209130996A>T-
NM_015040.4(PIKFYVE):c.-134C>T200576PIKFYVEBenignrs115543378RCV001137413; NMONDO:MONDO:0007376,MedGen:C1562113,OMIM:121850, Orphanet:9897022091310152091310152:g.209131015C>T-
NM_015040.4(PIKFYVE):c.-10+5G>A200576PIKFYVELikely benignrs541362896RCV000326456; NMONDO:MONDO:0007376,MedGen:C1562113,OMIM:121850, Orphanet:9897022091311442091311442:g.209131144G>AClinGen:CA10612222C1562113 121850 Fleck corneal dystrophy;
NM_015040.4(PIKFYVE):c.25C>T (p.Pro9Ser)200576PIKFYVEUncertain significancers1689422489RCV001139647; NMONDO:MONDO:0007376,MedGen:C1562113,OMIM:121850, Orphanet:9897022091362682091362682:g.209136268C>T-
NM_015040.4(PIKFYVE):c.37T>C (p.Ser13Pro)200576PIKFYVEUncertain significancers749616889RCV000362470; NMONDO:MONDO:0007376,MedGen:C1562113,OMIM:121850, Orphanet:989702209136280209136280NC_000002.11:g.209136280T>CClinGen:CA2079157C1562113 121850 Fleck corneal dystrophy;
NM_015040.4(PIKFYVE):c.64A>C (p.Thr22Pro)200576PIKFYVELikely benignrs373802805RCV000267920; NMONDO:MONDO:0007376,MedGen:C1562113,OMIM:121850, Orphanet:989702209136307209136307NC_000002.11:g.209136307A>CClinGen:CA2079162C1562113 121850 Fleck corneal dystrophy;
NM_015040.4(PIKFYVE):c.173-11C>T200576PIKFYVEBenignrs4675744RCV000323054|RCV002521370; NMONDO:MONDO:0007376,MedGen:C1562113,OMIM:121850, Orphanet:98970|MedGen:CN5172022209138297209138297NC_000002.11:g.209138297C>TClinGen:CA2079192C1562113 121850 Fleck corneal dystrophy;
NM_015040.4(PIKFYVE):c.235C>A (p.Leu79Ile)200576PIKFYVEUncertain significancers1689715018RCV001139648; NMONDO:MONDO:0007376,MedGen:C1562113,OMIM:121850, Orphanet:9897022091383702091383702:g.209138370C>A-
NM_015040.4(PIKFYVE):c.279A>G (p.Lys93=)200576PIKFYVEBenignrs36031854RCV000377720|RCV000948617; NMONDO:MONDO:0007376,MedGen:C1562113,OMIM:121850, Orphanet:98970|MedGen:CN5172022209138414209138414NC_000002.11:g.209138414A>GClinGen:CA2079209C1562113 121850 Fleck corneal dystrophy;
NM_015040.4(PIKFYVE):c.307C>T (p.Arg103Cys)200576PIKFYVEUncertain significancers778101021RCV000284516; NMONDO:MONDO:0007376,MedGen:C1562113,OMIM:121850, Orphanet:989702209138442209138442NC_000002.11:g.209138442C>TClinGen:CA2079215C1562113 121850 Fleck corneal dystrophy;
NM_015040.4(PIKFYVE):c.308G>A (p.Arg103His)200576PIKFYVEUncertain significancers891262232RCV001140400; NMONDO:MONDO:0007376,MedGen:C1562113,OMIM:121850, Orphanet:9897022091384432091384432:g.209138443G>A-
NM_015040.4(PIKFYVE):c.904C>T (p.Arg302Ter)200576PIKFYVELikely pathogenicrs1195336213RCV002308500; NMONDO:MONDO:0007376,MedGen:C1562113,OMIM:121850, Orphanet:989702209153535209153535209153535-
NM_015040.4(PIKFYVE):c.935C>G (p.Ser312Ter)200576PIKFYVELikely pathogenic-1RCV001782632; NMONDO:MONDO:0007376,MedGen:C1562113,OMIM:121850, Orphanet:989702209163388209163388209163388-
NM_015040.4(PIKFYVE):c.1051-10G>T200576PIKFYVEBenignrs769292195RCV000318474; NMONDO:MONDO:0007376,MedGen:C1562113,OMIM:121850, Orphanet:989702209165651209165651NC_000002.11:g.209165651G>TClinGen:CA2079451C1562113 121850 Fleck corneal dystrophy;
NM_015040.4(PIKFYVE):c.1140G>A (p.Thr380=)200576PIKFYVEUncertain significancers750959225RCV001140401; NMONDO:MONDO:0007376,MedGen:C1562113,OMIM:121850, Orphanet:9897022091657502091657502:g.209165750G>A-
NM_015040.4(PIKFYVE):c.1206A>G (p.Thr402=)200576PIKFYVELikely benignrs745795722RCV000952504|RCV001140402; NMedGen:CN517202|MONDO:MONDO:0007376,MedGen:C1562113,OMIM:121850, Orphanet:9897022091658162091658162:g.209165816A>G-
NM_015040.4(PIKFYVE):c.1320+4C>T200576PIKFYVEUncertain significancers1693797581RCV001140403; NMONDO:MONDO:0007376,MedGen:C1562113,OMIM:121850, Orphanet:9897022091670812091670812:g.209167081C>T-
NM_015040.4(PIKFYVE):c.1321-42C>T200576PIKFYVEBenign-1RCV001788917; NMONDO:MONDO:0007376,MedGen:C1562113,OMIM:121850, Orphanet:989702209168853209168853209168853-
NM_015040.4(PIKFYVE):c.1468+15C>T200576PIKFYVELikely benignrs781345811RCV001140404; NMONDO:MONDO:0007376,MedGen:C1562113,OMIM:121850, Orphanet:9897022091690572091690572:g.209169057C>T-
NM_015040.4(PIKFYVE):c.1522G>C (p.Asp508His)200576PIKFYVEUncertain significancers886055530RCV000375394; NMONDO:MONDO:0007376,MedGen:C1562113,OMIM:121850, Orphanet:989702209169623209169623NC_000002.11:g.209169623G>CClinGen:CA10612227C1562113 121850 Fleck corneal dystrophy;
NM_015040.4(PIKFYVE):c.1621C>A (p.Pro541Thr)200576PIKFYVEUncertain significancers886055531RCV000278477; NMONDO:MONDO:0007376,MedGen:C1562113,OMIM:121850, Orphanet:989702209169722209169722NC_000002.11:g.209169722C>AClinGen:CA10612636C1562113 121850 Fleck corneal dystrophy;
NM_015040.4(PIKFYVE):c.1711C>T (p.Arg571Cys)200576PIKFYVEUncertain significancers771948901RCV001140405; NMONDO:MONDO:0007376,MedGen:C1562113,OMIM:121850, Orphanet:9897022091790322091790322:g.209179032C>T-
NM_015040.4(PIKFYVE):c.1715G>A (p.Arg572Gln)200576PIKFYVEBenign/Likely benignrs146158348RCV000335905|RCV002521371; NMONDO:MONDO:0007376,MedGen:C1562113,OMIM:121850, Orphanet:98970|MedGen:CN5172022209179036209179036NC_000002.11:g.209179036G>AClinGen:CA2079628C1562113 121850 Fleck corneal dystrophy;
NM_015040.4(PIKFYVE):c.1746C>T (p.Phe582=)200576PIKFYVEUncertain significancers1259685306RCV001142264; NMONDO:MONDO:0007376,MedGen:C1562113,OMIM:121850, Orphanet:9897022091790672091790672:g.209179067C>T-
NM_015040.4(PIKFYVE):c.1770C>T (p.Asn590=)200576PIKFYVEBenignrs61752185RCV000405428|RCV000879056; NMONDO:MONDO:0007376,MedGen:C1562113,OMIM:121850, Orphanet:98970|MedGen:CN5172022209179091209179091NC_000002.11:g.209179091C>TClinGen:CA2079636C1562113 121850 Fleck corneal dystrophy;
NM_015040.4(PIKFYVE):c.1849A>G (p.Met617Val)200576PIKFYVEBenignrs16840913RCV000295958|RCV002521372; NMONDO:MONDO:0007376,MedGen:C1562113,OMIM:121850, Orphanet:98970|MedGen:CN5172022209179939209179939NC_000002.11:g.209179939A>GClinGen:CA2079668,UniProtKB:Q9Y2I7#VAR_057097C1562113 121850 Fleck corneal dystrophy;
NM_015040.4(PIKFYVE):c.1928A>G (p.Gln643Arg)200576PIKFYVEUncertain significancers886055532RCV000348639; NMONDO:MONDO:0007376,MedGen:C1562113,OMIM:121850, Orphanet:989702209180018209180018NC_000002.11:g.209180018A>GClinGen:CA10612639C1562113 121850 Fleck corneal dystrophy;
NM_015040.4(PIKFYVE):c.1946G>A (p.Arg649Gln)200576PIKFYVEConflicting interpretations of pathogenicityrs377372888RCV000396084|RCV002521373; NMONDO:MONDO:0007376,MedGen:C1562113,OMIM:121850, Orphanet:98970|MedGen:CN5172022209180036209180036NC_000002.11:g.209180036G>AClinGen:CA2079683C1562113 121850 Fleck corneal dystrophy;
NM_015040.4(PIKFYVE):c.1954G>A (p.Val652Ile)200576PIKFYVEBenignrs145916346RCV001142265; NMONDO:MONDO:0007376,MedGen:C1562113,OMIM:121850, Orphanet:9897022091800442091800442:g.209180044G>A-
NM_015040.4(PIKFYVE):c.1983C>A (p.Ile661=)200576PIKFYVEBenignrs41305979RCV000308733|RCV002521374; NMONDO:MONDO:0007376,MedGen:C1562113,OMIM:121850, Orphanet:98970|MedGen:CN5172022209180073209180073NC_000002.11:g.209180073C>AClinGen:CA2079689C1562113 121850 Fleck corneal dystrophy;
NM_015040.4(PIKFYVE):c.2016T>G (p.Gly672=)200576PIKFYVEBenignrs148810695RCV001137527; NMONDO:MONDO:0007376,MedGen:C1562113,OMIM:121850, Orphanet:9897022091825992091825992:g.209182599T>G-
NM_015040.4(PIKFYVE):c.2087G>A (p.Ser696Asn)200576PIKFYVEBenignrs10932258RCV000365792|RCV002057640; NMONDO:MONDO:0007376,MedGen:C1562113,OMIM:121850, Orphanet:98970|MedGen:CN5172022209184980209184980NC_000002.11:g.209184980G>AClinGen:CA2079746,UniProtKB:Q9Y2I7#VAR_063406C1562113 121850 Fleck corneal dystrophy;
NM_015040.4(PIKFYVE):c.2106C>T (p.Pro702=)200576PIKFYVEBenignrs10932259RCV000396210|RCV002057641; NMONDO:MONDO:0007376,MedGen:C1562113,OMIM:121850, Orphanet:98970|MedGen:CN5172022209184999209184999NC_000002.11:g.209184999C>TClinGen:CA2079750C1562113 121850 Fleck corneal dystrophy;
NM_015040.4(PIKFYVE):c.2164A>G (p.Thr722Ala)200576PIKFYVEBenignrs566701537RCV000307427; NMONDO:MONDO:0007376,MedGen:C1562113,OMIM:121850, Orphanet:989702209185057209185057NC_000002.11:g.209185057A>GClinGen:CA2079755C1562113 121850 Fleck corneal dystrophy;
NM_015040.4(PIKFYVE):c.2191-15A>T200576PIKFYVEBenignrs16840942RCV000360080|RCV002521375; NMONDO:MONDO:0007376,MedGen:C1562113,OMIM:121850, Orphanet:98970|MedGen:CN5172022209188851209188851NC_000002.11:g.209188851A>TClinGen:CA2079775C1562113 121850 Fleck corneal dystrophy;
NM_015040.4(PIKFYVE):c.2191-6A>T200576PIKFYVEBenignrs758552809RCV001137528; NMONDO:MONDO:0007376,MedGen:C1562113,OMIM:121850, Orphanet:9897022091888602091888602:g.209188860A>T-
NM_015040.4(PIKFYVE):c.2331+12T>A200576PIKFYVEBenignrs188586992RCV000267739; NMONDO:MONDO:0007376,MedGen:C1562113,OMIM:121850, Orphanet:989702209189018209189018NC_000002.11:g.209189018T>AClinGen:CA2079797C1562113 121850 Fleck corneal dystrophy;
NM_015040.4(PIKFYVE):c.2344C>T (p.Arg782Ter)200576PIKFYVEPathogenic-1RCV001731226; NMONDO:MONDO:0007376,MedGen:C1562113,OMIM:121850, Orphanet:989702209189647209189647209189647-
NM_015040.4(PIKFYVE):c.2458+10C>G200576PIKFYVEUncertain significancers751563395RCV001139733; NMONDO:MONDO:0007376,MedGen:C1562113,OMIM:121850, Orphanet:9897022091897712091897712:g.209189771C>G-
NM_015040.4(PIKFYVE):c.2459-10T>C200576PIKFYVELikely benignrs751439088RCV001139734; NMONDO:MONDO:0007376,MedGen:C1562113,OMIM:121850, Orphanet:9897022091899842091899842:g.209189984T>C-
NM_015040.4(PIKFYVE):c.2535T>C (p.Ser845=)200576PIKFYVEBenignrs138885638RCV000301705; NMONDO:MONDO:0007376,MedGen:C1562113,OMIM:121850, Orphanet:989702209190070209190070NC_000002.11:g.209190070T>CClinGen:CA2079873C1562113 121850 Fleck corneal dystrophy;
NM_015040.4(PIKFYVE):c.2549C>T (p.Ala850Val)200576PIKFYVEConflicting interpretations of pathogenicityrs144852646RCV000358860|RCV002521376; NMONDO:MONDO:0007376,MedGen:C1562113,OMIM:121850, Orphanet:98970|MeSH:D030342,MedGen:C09501232209190084209190084NC_000002.11:g.209190084C>TClinGen:CA2079874C1562113 121850 Fleck corneal dystrophy;
NM_015040.4(PIKFYVE):c.2641C>A (p.Pro881Thr)200576PIKFYVEUncertain significancers1338276014RCV001139735; NMONDO:MONDO:0007376,MedGen:C1562113,OMIM:121850, Orphanet:9897022091901762091901762:g.209190176C>A-
NM_015040.4(PIKFYVE):c.2718C>T (p.Tyr906=)200576PIKFYVEBenignrs61752187RCV000263665|RCV000910931; NMONDO:MONDO:0007376,MedGen:C1562113,OMIM:121850, Orphanet:98970|MedGen:CN5172022209190253209190253NC_000002.11:g.209190253C>TClinGen:CA2079906C1562113 121850 Fleck corneal dystrophy;
NM_015040.4(PIKFYVE):c.2733C>T (p.Ile911=)200576PIKFYVEUncertain significancers755202351RCV001139736; NMONDO:MONDO:0007376,MedGen:C1562113,OMIM:121850, Orphanet:9897022091902682091902682:g.209190268C>T-
NM_015040.4(PIKFYVE):c.2795T>C (p.Leu932Ser)200576PIKFYVEBenignrs2363468RCV000316508|RCV002057642; NMONDO:MONDO:0007376,MedGen:C1562113,OMIM:121850, Orphanet:98970|MedGen:CN5172022209190330209190330NC_000002.11:g.209190330T>CClinGen:CA2079919,UniProtKB:Q9Y2I7#VAR_063407C1562113 121850 Fleck corneal dystrophy;
NM_015040.4(PIKFYVE):c.2802T>A (p.Ile934=)200576PIKFYVEBenignrs61752188RCV000373564; NMONDO:MONDO:0007376,MedGen:C1562113,OMIM:121850, Orphanet:989702209190337209190337NC_000002.11:g.209190337T>AClinGen:CA2079922C1562113 121850 Fleck corneal dystrophy;
NM_015040.4(PIKFYVE):c.2873A>T (p.His958Leu)200576PIKFYVEUncertain significancers371918240RCV001140515; NMONDO:MONDO:0007376,MedGen:C1562113,OMIM:121850, Orphanet:9897022091904082091904082:g.209190408A>T-
NM_015040.4(PIKFYVE):c.2881A>G (p.Thr961Ala)200576PIKFYVEBenignrs139991374RCV001140516; NMONDO:MONDO:0007376,MedGen:C1562113,OMIM:121850, Orphanet:9897022091904162091904162:g.209190416A>G-
NM_015040.4(PIKFYVE):c.2892G>A (p.Pro964=)200576PIKFYVEBenignrs146556775RCV000276699|RCV002523102; NMONDO:MONDO:0007376,MedGen:C1562113,OMIM:121850, Orphanet:98970|MedGen:CN5172022209190427209190427NC_000002.11:g.209190427G>AClinGen:CA2079949C1562113 121850 Fleck corneal dystrophy;
NM_015040.4(PIKFYVE):c.2895G>A (p.Ala965=)200576PIKFYVEBenignrs149763308RCV000334153|RCV000909696; NMONDO:MONDO:0007376,MedGen:C1562113,OMIM:121850, Orphanet:98970|MedGen:CN5172022209190430209190430NC_000002.11:g.209190430G>AClinGen:CA2079951C1562113 121850 Fleck corneal dystrophy;
NM_015040.4(PIKFYVE):c.2954A>G (p.Asp985Gly)200576PIKFYVEUncertain significancers1346610853RCV001140517; NMONDO:MONDO:0007376,MedGen:C1562113,OMIM:121850, Orphanet:9897022091904892091904892:g.209190489A>G-
NM_015040.4(PIKFYVE):c.2959C>T (p.Gln987Ter)200576PIKFYVEUncertain significancers1559130873RCV000779298; NMONDO:MONDO:0007376,MedGen:C1562113,OMIM:121850, Orphanet:989702209190494209190494NC_000002.11:g.209190494C>T-
NM_015040.4(PIKFYVE):c.2962C>T (p.Gln988Ter)200576PIKFYVEPathogenicrs121918337RCV000001767; NMONDO:MONDO:0007376,MedGen:C1562113,OMIM:121850, Orphanet:9897022091904972091904972:g.209190497C>TClinGen:CA115150,OMIM:609414.0002C1562113 121850 Fleck corneal dystrophy;
NM_015040.4(PIKFYVE):c.2984A>T (p.Gln995Leu)200576PIKFYVEBenignrs893254RCV000386356|RCV002051842; NMONDO:MONDO:0007376,MedGen:C1562113,OMIM:121850, Orphanet:98970|MedGen:CN5172022209190519209190519NC_000002.11:g.209190519A>TClinGen:CA2079970,UniProtKB:Q9Y2I7#VAR_063408C1562113 121850 Fleck corneal dystrophy;
NM_015040.4(PIKFYVE):c.2993C>G (p.Thr998Ser)200576PIKFYVEBenignrs893253RCV000293929|RCV002051843; NMONDO:MONDO:0007376,MedGen:C1562113,OMIM:121850, Orphanet:98970|MedGen:CN5172022209190528209190528NC_000002.11:g.209190528C>GClinGen:CA2079972,UniProtKB:Q9Y2I7#VAR_063409C1562113 121850 Fleck corneal dystrophy;
NM_015040.4(PIKFYVE):c.3097T>G (p.Ser1033Ala)200576PIKFYVEBenignrs999890RCV000346500|RCV002523103; NMONDO:MONDO:0007376,MedGen:C1562113,OMIM:121850, Orphanet:98970|MedGen:CN5172022209190632209190632NC_000002.11:g.209190632T>GClinGen:CA2079986,UniProtKB:Q9Y2I7#VAR_057098C1562113 121850 Fleck corneal dystrophy;
NM_015040.4(PIKFYVE):c.3114A>G (p.Arg1038=)200576PIKFYVEBenignrs999891RCV000385242|RCV002523104; NMONDO:MONDO:0007376,MedGen:C1562113,OMIM:121850, Orphanet:98970|MedGen:CN5172022209190649209190649NC_000002.11:g.209190649A>GClinGen:CA2079991C1562113 121850 Fleck corneal dystrophy;
NM_015040.4(PIKFYVE):c.3122A>G (p.Tyr1041Cys)200576PIKFYVEUncertain significancers886055533RCV000288578; NMONDO:MONDO:0007376,MedGen:C1562113,OMIM:121850, Orphanet:989702209190657209190657NC_000002.11:g.209190657A>GClinGen:CA10613810C1562113 121850 Fleck corneal dystrophy;
NM_015040.4(PIKFYVE):c.3150dup (p.Asp1051fs)200576PIKFYVEPathogenicrs869312464RCV000209630; NMONDO:MONDO:0007376,MedGen:C1562113,OMIM:121850, Orphanet:9897022091906812091906822:g.209190681_209190682insAClinGen:CA353353,OMIM:609414.0004C1562113 121850 Fleck corneal dystrophy;
NM_015040.4(PIKFYVE):c.3270C>G (p.Leu1090=)200576PIKFYVEUncertain significancers766037305RCV000345785; NMONDO:MONDO:0007376,MedGen:C1562113,OMIM:121850, Orphanet:989702209190805209190805NC_000002.11:g.209190805C>GClinGen:CA10614034C1562113 121850 Fleck corneal dystrophy;
NM_015040.4(PIKFYVE):c.3308A>G (p.Lys1103Arg)200576PIKFYVEPathogenicrs121918336RCV000001766; NMONDO:MONDO:0007376,MedGen:C1562113,OMIM:121850, Orphanet:9897022091908432091908432:g.209190843A>GClinGen:CA115149,UniProtKB:Q9Y2I7#VAR_025309,OMIM:609414.0001C1562113 121850 Fleck corneal dystrophy;
NM_015040.4(PIKFYVE):c.3354A>G (p.Gly1118=)200576PIKFYVEBenignrs149005796RCV000404992; NMONDO:MONDO:0007376,MedGen:C1562113,OMIM:121850, Orphanet:989702209190889209190889NC_000002.11:g.209190889A>GClinGen:CA2080025C1562113 121850 Fleck corneal dystrophy;
NM_015040.4(PIKFYVE):c.3459C>T (p.Ala1153=)200576PIKFYVEBenignrs147976705RCV001137609; NMONDO:MONDO:0007376,MedGen:C1562113,OMIM:121850, Orphanet:9897022091909942091909942:g.209190994C>T-
NM_015040.4(PIKFYVE):c.3500C>G (p.Ser1167Ter)200576PIKFYVELikely pathogenicrs780579562RCV000490347; NMONDO:MONDO:0007376,MedGen:C1562113,OMIM:121850, Orphanet:9897022091910352091910352:g.209191035C>GClinGen:CA2080046C1562113 121850 Fleck corneal dystrophy;
NM_015040.4(PIKFYVE):c.3511G>A (p.Ala1171Thr)200576PIKFYVEUncertain significancers748235174RCV000306008; NMONDO:MONDO:0007376,MedGen:C1562113,OMIM:121850, Orphanet:989702209191046209191046NC_000002.11:g.209191046G>AClinGen:CA2080050C1562113 121850 Fleck corneal dystrophy;
NM_015040.4(PIKFYVE):c.3547C>A (p.Gln1183Lys)200576PIKFYVEBenignrs1529979RCV000339815|RCV002057643; NMONDO:MONDO:0007376,MedGen:C1562113,OMIM:121850, Orphanet:98970|MedGen:CN5172022209191082209191082NC_000002.11:g.209191082C>AClinGen:CA2080059,UniProtKB:Q9Y2I7#VAR_063410C1562113 121850 Fleck corneal dystrophy;
NM_015040.4(PIKFYVE):c.3564T>C (p.Asn1188=)200576PIKFYVEBenignrs1529978RCV000395304|RCV002057644; NMONDO:MONDO:0007376,MedGen:C1562113,OMIM:121850, Orphanet:98970|MedGen:CN5172022209191099209191099NC_000002.11:g.209191099T>CClinGen:CA2080062C1562113 121850 Fleck corneal dystrophy;
NM_015040.4(PIKFYVE):c.3719+14C>A200576PIKFYVEBenignrs765598840RCV001137610; NMONDO:MONDO:0007376,MedGen:C1562113,OMIM:121850, Orphanet:9897022091930182091930182:g.209193018C>A-
NM_015040.4(PIKFYVE):c.3804G>C (p.Gln1268His)200576PIKFYVELikely benignrs767989671RCV001137611; NMONDO:MONDO:0007376,MedGen:C1562113,OMIM:121850, Orphanet:9897022091952592091952592:g.209195259G>C-
NM_015040.4(PIKFYVE):c.4156C>T (p.Arg1386Trp)200576PIKFYVEBenignrs188498825RCV001137612; NMONDO:MONDO:0007376,MedGen:C1562113,OMIM:121850, Orphanet:9897022092000432092000432:g.209200043C>T-
NM_015040.4(PIKFYVE):c.4167_4170del (p.Glu1389fs)200576PIKFYVEPathogenicrs387907335RCV000034837; NMONDO:MONDO:0007376,MedGen:C1562113,OMIM:121850, Orphanet:9897022092000542092000572:g.209200053_209200056delClinGen:CA130917,OMIM:609414.0003C1562113 121850 Fleck corneal dystrophy;
NM_015040.4(PIKFYVE):c.4215A>G (p.Leu1405=)200576PIKFYVEBenignrs35944808RCV000300186|RCV000966145; NMONDO:MONDO:0007376,MedGen:C1562113,OMIM:121850, Orphanet:98970|MedGen:CN5172022209200102209200102NC_000002.11:g.209200102A>GClinGen:CA2080250C1562113 121850 Fleck corneal dystrophy;
NM_015040.4(PIKFYVE):c.4436C>G (p.Thr1479Ser)200576PIKFYVEBenignrs144573813RCV000356539; NMONDO:MONDO:0007376,MedGen:C1562113,OMIM:121850, Orphanet:989702209200840209200840NC_000002.11:g.209200840C>GClinGen:CA2080319C1562113 121850 Fleck corneal dystrophy;
NM_015040.4(PIKFYVE):c.4455G>A (p.Ser1485=)200576PIKFYVEBenignrs145498570RCV000259284|RCV000916339; NMONDO:MONDO:0007376,MedGen:C1562113,OMIM:121850, Orphanet:98970|MedGen:CN5172022209200859209200859NC_000002.11:g.209200859G>AClinGen:CA2080323C1562113 121850 Fleck corneal dystrophy;
NM_015040.4(PIKFYVE):c.4511G>A (p.Trp1504Ter)200576PIKFYVEPathogenic-1RCV001731227; NMONDO:MONDO:0007376,MedGen:C1562113,OMIM:121850, Orphanet:989702209200915209200915209200915-
NM_015040.4(PIKFYVE):c.4559G>T (p.Arg1520Ile)200576PIKFYVEUncertain significancers1698191316RCV001139837; NMONDO:MONDO:0007376,MedGen:C1562113,OMIM:121850, Orphanet:9897022092016002092016002:g.209201600G>T-
NM_015040.4(PIKFYVE):c.4567G>A (p.Val1523Ile)200576PIKFYVEUncertain significancers368783060RCV001139838; NMONDO:MONDO:0007376,MedGen:C1562113,OMIM:121850, Orphanet:9897022092016082092016082:g.209201608G>A-
NM_015040.4(PIKFYVE):c.4585A>C (p.Arg1529=)200576PIKFYVEBenignrs199542979RCV001139839; NMONDO:MONDO:0007376,MedGen:C1562113,OMIM:121850, Orphanet:9897022092016262092016262:g.209201626A>C-
NM_015040.4(PIKFYVE):c.4607G>A (p.Ser1536Asn)200576PIKFYVEUncertain significancers1698195187RCV001139840; NMONDO:MONDO:0007376,MedGen:C1562113,OMIM:121850, Orphanet:9897022092016482092016482:g.209201648G>A-
NM_015040.4(PIKFYVE):c.4629A>G (p.Ala1543=)200576PIKFYVEBenignrs61752190RCV000298050|RCV000951242; NMONDO:MONDO:0007376,MedGen:C1562113,OMIM:121850, Orphanet:98970|MedGen:CN5172022209203249209203249NC_000002.11:g.209203249A>GClinGen:CA2080373C1562113 121850 Fleck corneal dystrophy;
NM_015040.4(PIKFYVE):c.4640A>G (p.Asn1547Ser)200576PIKFYVEUncertain significancers1698393358RCV001140622; NMONDO:MONDO:0007376,MedGen:C1562113,OMIM:121850, Orphanet:9897022092032602092032602:g.209203260A>G-
NM_015040.4(PIKFYVE):c.4731A>G (p.Gln1577=)200576PIKFYVEBenignrs35066043RCV000369116|RCV000948618; NMONDO:MONDO:0007376,MedGen:C1562113,OMIM:121850, Orphanet:98970|MedGen:CN5172022209204200209204200NC_000002.11:g.209204200A>GClinGen:CA2080423C1562113 121850 Fleck corneal dystrophy;
NM_015040.4(PIKFYVE):c.4774G>A (p.Gly1592Arg)200576PIKFYVEBenignrs148994064RCV000277100|RCV000950645; NMONDO:MONDO:0007376,MedGen:C1562113,OMIM:121850, Orphanet:98970|MedGen:CN5172022209204243209204243NC_000002.11:g.209204243G>AClinGen:CA2080434C1562113 121850 Fleck corneal dystrophy;
NM_015040.4(PIKFYVE):c.4811-9T>C200576PIKFYVEBenignrs148173811RCV001140623; NMONDO:MONDO:0007376,MedGen:C1562113,OMIM:121850, Orphanet:9897022092047262092047262:g.209204726T>C-
NM_015040.4(PIKFYVE):c.4814T>G (p.Val1605Gly)200576PIKFYVEBenignrs61752191RCV000329856|RCV002521377; NMONDO:MONDO:0007376,MedGen:C1562113,OMIM:121850, Orphanet:98970|MedGen:CN5172022209204738209204738NC_000002.11:g.209204738T>GClinGen:CA2080466C1562113 121850 Fleck corneal dystrophy;
NM_015040.4(PIKFYVE):c.4932-13A>C200576PIKFYVEBenignrs186801100RCV001140624; NMONDO:MONDO:0007376,MedGen:C1562113,OMIM:121850, Orphanet:9897022092072652092072652:g.209207265A>C-
NM_015040.4(PIKFYVE):c.4958A>G (p.Tyr1653Cys)200576PIKFYVEUncertain significancers886055534RCV000386604; NMONDO:MONDO:0007376,MedGen:C1562113,OMIM:121850, Orphanet:989702209207304209207304NC_000002.11:g.209207304A>GClinGen:CA10614052C1562113 121850 Fleck corneal dystrophy;
NM_015040.4(PIKFYVE):c.4989C>T (p.Cys1663=)200576PIKFYVEBenignrs35784095RCV000271233|RCV002521378; NMONDO:MONDO:0007376,MedGen:C1562113,OMIM:121850, Orphanet:98970|MedGen:CN5172022209207335209207335NC_000002.11:g.209207335C>TClinGen:CA2080490C1562113 121850 Fleck corneal dystrophy;
NM_015040.4(PIKFYVE):c.5028-8G>A200576PIKFYVEBenignrs2304544RCV000328743|RCV002057645; NMONDO:MONDO:0007376,MedGen:C1562113,OMIM:121850, Orphanet:98970|MedGen:CN5172022209209827209209827NC_000002.11:g.209209827G>AClinGen:CA2080513C1562113 121850 Fleck corneal dystrophy;
NM_015040.4(PIKFYVE):c.5088C>T (p.Ala1696=)200576PIKFYVEUncertain significancers753209769RCV001142483; NMONDO:MONDO:0007376,MedGen:C1562113,OMIM:121850, Orphanet:9897022092098952092098952:g.209209895C>T-
NM_015040.4(PIKFYVE):c.5137A>G (p.Ser1713Gly)200576PIKFYVELikely benignrs376604887RCV001142484; NMONDO:MONDO:0007376,MedGen:C1562113,OMIM:121850, Orphanet:9897022092107992092107992:g.209210799A>G-
NM_015040.4(PIKFYVE):c.5296C>T (p.Arg1766Cys)200576PIKFYVEUncertain significancers776997681RCV001142485; NMONDO:MONDO:0007376,MedGen:C1562113,OMIM:121850, Orphanet:9897022092126692092126692:g.209212669C>T-
NM_015040.4(PIKFYVE):c.5322G>C (p.Gln1774His)200576PIKFYVEConflicting interpretations of pathogenicityrs146673873RCV000380983|RCV002521379; NMONDO:MONDO:0007376,MedGen:C1562113,OMIM:121850, Orphanet:98970|MeSH:D030342,MedGen:C09501232209212695209212695NC_000002.11:g.209212695G>CClinGen:CA2080595C1562113 121850 Fleck corneal dystrophy;
NM_015040.4(PIKFYVE):c.5334G>A (p.Thr1778=)200576PIKFYVEBenignrs2304545RCV000288994|RCV002057646; NMONDO:MONDO:0007376,MedGen:C1562113,OMIM:121850, Orphanet:98970|MedGen:CN5172022209212707209212707NC_000002.11:g.209212707G>AClinGen:CA2080597C1562113 121850 Fleck corneal dystrophy;
NM_015040.4(PIKFYVE):c.5343G>A (p.Glu1781=)200576PIKFYVEBenignrs140774753RCV000341665; NMONDO:MONDO:0007376,MedGen:C1562113,OMIM:121850, Orphanet:989702209212716209212716NC_000002.11:g.209212716G>AClinGen:CA2080598C1562113 121850 Fleck corneal dystrophy;
NM_015040.4(PIKFYVE):c.5397A>G (p.Thr1799=)200576PIKFYVEBenignrs2118297RCV000379957|RCV002057647; NMONDO:MONDO:0007376,MedGen:C1562113,OMIM:121850, Orphanet:98970|MedGen:CN5172022209214770209214770NC_000002.11:g.209214770A>GClinGen:CA2080624C1562113 121850 Fleck corneal dystrophy;
NM_015040.4(PIKFYVE):c.5434+12A>T200576PIKFYVEBenignrs182134444RCV001137732; NMONDO:MONDO:0007376,MedGen:C1562113,OMIM:121850, Orphanet:9897022092148192092148192:g.209214819A>T-
NM_015040.4(PIKFYVE):c.5435-47A>G200576PIKFYVEBenign-1RCV001788919; NMONDO:MONDO:0007376,MedGen:C1562113,OMIM:121850, Orphanet:989702209215448209215448209215448-
NM_015040.4(PIKFYVE):c.5511T>C (p.Ile1837=)200576PIKFYVEBenignrs13020468RCV000283380|RCV002523105; NMONDO:MONDO:0007376,MedGen:C1562113,OMIM:121850, Orphanet:98970|MedGen:CN5172022209215571209215571NC_000002.11:g.209215571T>CClinGen:CA2080665C1562113 121850 Fleck corneal dystrophy;
NM_015040.4(PIKFYVE):c.5526A>G (p.Glu1842=)200576PIKFYVEBenignrs994697RCV000340728|RCV001594967; NMONDO:MONDO:0007376,MedGen:C1562113,OMIM:121850, Orphanet:98970|MedGen:CN5172022209215586209215586NC_000002.11:g.209215586A>GClinGen:CA2080666C1562113 121850 Fleck corneal dystrophy;
NM_015040.4(PIKFYVE):c.5573G>A (p.Arg1858Gln)200576PIKFYVEBenignrs2289170RCV000402868; NMONDO:MONDO:0007376,MedGen:C1562113,OMIM:121850, Orphanet:989702209215633209215633NC_000002.11:g.209215633G>AClinGen:CA2080674,UniProtKB:Q9Y2I7#VAR_057099C1562113 121850 Fleck corneal dystrophy;
NM_015040.4(PIKFYVE):c.5594C>T (p.Ala1865Val)200576PIKFYVEBenignrs137922460RCV000297361; NMONDO:MONDO:0007376,MedGen:C1562113,OMIM:121850, Orphanet:989702209215654209215654NC_000002.11:g.209215654C>TClinGen:CA2080676C1562113 121850 Fleck corneal dystrophy;
NM_015040.4(PIKFYVE):c.5716-11C>A200576PIKFYVEUncertain significancers886055535RCV000336019; NMONDO:MONDO:0007376,MedGen:C1562113,OMIM:121850, Orphanet:989702209217367209217367NC_000002.11:g.209217367C>AClinGen:CA10614094C1562113 121850 Fleck corneal dystrophy;
NM_015040.4(PIKFYVE):c.5716-4T>C200576PIKFYVEUncertain significancers1214631493RCV001139965; NMONDO:MONDO:0007376,MedGen:C1562113,OMIM:121850, Orphanet:9897022092173742092173742:g.209217374T>C-
NM_015040.4(PIKFYVE):c.5727G>A (p.Ala1909=)200576PIKFYVELikely benignrs147789704RCV000397687; NMONDO:MONDO:0007376,MedGen:C1562113,OMIM:121850, Orphanet:989702209217389209217389NC_000002.11:g.209217389G>AClinGen:CA2080729C1562113 121850 Fleck corneal dystrophy;
NM_015040.4(PIKFYVE):c.5727G>T (p.Ala1909=)200576PIKFYVEBenignrs147789704RCV000314967|RCV000903892; NMONDO:MONDO:0007376,MedGen:C1562113,OMIM:121850, Orphanet:98970|MedGen:CN5172022209217389209217389NC_000002.11:g.209217389G>TClinGen:CA2080728C1562113 121850 Fleck corneal dystrophy;
NM_015040.4(PIKFYVE):c.6060G>A (p.Leu2020=)200576PIKFYVEBenignrs146239645RCV001139966|RCV002559351; NMONDO:MONDO:0007376,MedGen:C1562113,OMIM:121850, Orphanet:98970|MedGen:CN51720222092188372092188372:g.209218837G>A-
NM_015040.4(PIKFYVE):c.6165A>C (p.Gly2055=)200576PIKFYVEUncertain significancers748688653RCV001139967; NMONDO:MONDO:0007376,MedGen:C1562113,OMIM:121850, Orphanet:9897022092193532092193532:g.209219353A>C-
NM_015040.4(PIKFYVE):c.6243C>T (p.Asp2081=)200576PIKFYVELikely benignrs746132026RCV001139968; NMONDO:MONDO:0007376,MedGen:C1562113,OMIM:121850, Orphanet:9897022092199752092199752:g.209219975C>T-
NM_015040.4(PIKFYVE):c.*78T>C200576PIKFYVEBenignrs115754381RCV000367108; NMONDO:MONDO:0007376,MedGen:C1562113,OMIM:121850, Orphanet:989702209220107209220107NC_000002.11:g.209220107T>CClinGen:CA10612645C1562113 121850 Fleck corneal dystrophy;
NM_015040.4(PIKFYVE):c.*128G>T200576PIKFYVEBenignrs10208191RCV000397699; NMONDO:MONDO:0007376,MedGen:C1562113,OMIM:121850, Orphanet:989702209220157209220157NC_000002.11:g.209220157G>TClinGen:CA10613825C1562113 121850 Fleck corneal dystrophy;
NM_015040.4(PIKFYVE):c.*209G>C200576PIKFYVEBenignrs10208295RCV000308950; NMONDO:MONDO:0007376,MedGen:C1562113,OMIM:121850, Orphanet:989702209220238209220238NC_000002.11:g.209220238G>CClinGen:CA10614095C1562113 121850 Fleck corneal dystrophy;
NM_015040.4(PIKFYVE):c.*210G>A200576PIKFYVEBenignrs77542967RCV001140721; NMONDO:MONDO:0007376,MedGen:C1562113,OMIM:121850, Orphanet:9897022092202392092202392:g.209220239G>A-
NM_015040.4(PIKFYVE):c.*240C>T200576PIKFYVEUncertain significancers567925149RCV000365972; NMONDO:MONDO:0007376,MedGen:C1562113,OMIM:121850, Orphanet:989702209220269209220269NC_000002.11:g.209220269C>TClinGen:CA10612257C1562113 121850 Fleck corneal dystrophy;
NM_015040.4(PIKFYVE):c.*492T>A200576PIKFYVEUncertain significancers1454811692RCV001140722; NMONDO:MONDO:0007376,MedGen:C1562113,OMIM:121850, Orphanet:9897022092205212092205212:g.209220521T>A-
NM_015040.4(PIKFYVE):c.*518C>A200576PIKFYVEUncertain significancers148739344RCV000268778; NMONDO:MONDO:0007376,MedGen:C1562113,OMIM:121850, Orphanet:989702209220547209220547NC_000002.11:g.209220547C>AClinGen:CA10612647C1562113 121850 Fleck corneal dystrophy;
NM_015040.4(PIKFYVE):c.*518C>T200576PIKFYVEUncertain significancers148739344RCV001142589; NMONDO:MONDO:0007376,MedGen:C1562113,OMIM:121850, Orphanet:9897022092205472092205472:g.209220547C>T-
NM_015040.4(PIKFYVE):c.*519G>A200576PIKFYVEUncertain significancers551218307RCV001142590; NMONDO:MONDO:0007376,MedGen:C1562113,OMIM:121850, Orphanet:9897022092205482092205482:g.209220548G>A-
NM_015040.4(PIKFYVE):c.*552T>G200576PIKFYVEUncertain significancers886055536RCV000326136; NMONDO:MONDO:0007376,MedGen:C1562113,OMIM:121850, Orphanet:989702209220581209220581NC_000002.11:g.209220581T>GClinGen:CA10614096C1562113 121850 Fleck corneal dystrophy;
NM_015040.4(PIKFYVE):c.*615T>A200576PIKFYVEUncertain significancers182741783RCV000359835; NMONDO:MONDO:0007376,MedGen:C1562113,OMIM:121850, Orphanet:989702209220644209220644NC_000002.11:g.209220644T>AClinGen:CA10613826C1562113 121850 Fleck corneal dystrophy;
NM_015040.4(PIKFYVE):c.*720A>G200576PIKFYVEUncertain significancers886055537RCV000267522; NMONDO:MONDO:0007376,MedGen:C1562113,OMIM:121850, Orphanet:989702209220749209220749NC_000002.11:g.209220749A>GClinGen:CA10613827C1562113 121850 Fleck corneal dystrophy;
NM_015040.4(PIKFYVE):c.*729T>C200576PIKFYVEUncertain significancers144852130RCV000320473; NMONDO:MONDO:0007376,MedGen:C1562113,OMIM:121850, Orphanet:989702209220758209220758NC_000002.11:g.209220758T>CClinGen:CA10612648C1562113 121850 Fleck corneal dystrophy;
NM_015040.4(PIKFYVE):c.*772dup200576PIKFYVEUncertain significancers886055538RCV000377464; NMONDO:MONDO:0007376,MedGen:C1562113,OMIM:121850, Orphanet:9897022092207952092207962:g.209220795_209220796insTClinGen:CA10613835C1562113 121850 Fleck corneal dystrophy;
NM_015040.4(PIKFYVE):c.*777A>G200576PIKFYVEUncertain significancers886055539RCV000280674; NMONDO:MONDO:0007376,MedGen:C1562113,OMIM:121850, Orphanet:9897022092208062092208062:g.209220806A>GClinGen:CA10613836C1562113 121850 Fleck corneal dystrophy;
NM_015040.4(PIKFYVE):c.*798A>G200576PIKFYVEUncertain significancers886055540RCV000319295; NMONDO:MONDO:0007376,MedGen:C1562113,OMIM:121850, Orphanet:9897022092208272092208272:g.209220827A>GClinGen:CA10614097C1562113 121850 Fleck corneal dystrophy;
NM_015040.4(PIKFYVE):c.*814T>G200576PIKFYVEUncertain significancers1265056669RCV001137841; NMONDO:MONDO:0007376,MedGen:C1562113,OMIM:121850, Orphanet:9897022092208432092208432:g.209220843T>G-
NM_015040.4(PIKFYVE):c.*868T>C200576PIKFYVEUncertain significancers1167656721RCV001137842; NMONDO:MONDO:0007376,MedGen:C1562113,OMIM:121850, Orphanet:9897022092208972092208972:g.209220897T>C-
NM_015040.4(PIKFYVE):c.*968G>T200576PIKFYVEUncertain significancers1700155137RCV001140085; NMONDO:MONDO:0007376,MedGen:C1562113,OMIM:121850, Orphanet:9897022092209972092209972:g.209220997G>T-
NM_015040.4(PIKFYVE):c.*1001G>T200576PIKFYVEUncertain significancers886055541RCV000372335; NMONDO:MONDO:0007376,MedGen:C1562113,OMIM:121850, Orphanet:9897022092210302092210302:g.209221030G>TClinGen:CA10612258C1562113 121850 Fleck corneal dystrophy;
NM_015040.4(PIKFYVE):c.*1090A>G200576PIKFYVEUncertain significancers41305981RCV000280154; NMONDO:MONDO:0007376,MedGen:C1562113,OMIM:121850, Orphanet:9897022092211192092211192:g.209221119A>GClinGen:CA10613847C1562113 121850 Fleck corneal dystrophy;
NM_015040.4(PIKFYVE):c.*1098A>G200576PIKFYVEBenignrs147936107RCV000351498; NMONDO:MONDO:0007376,MedGen:C1562113,OMIM:121850, Orphanet:9897022092211272092211272:g.209221127A>GClinGen:CA10613849C1562113 121850 Fleck corneal dystrophy;
NM_015040.4(PIKFYVE):c.*1196A>G200576PIKFYVEUncertain significancers886055542RCV000404250; NMONDO:MONDO:0007376,MedGen:C1562113,OMIM:121850, Orphanet:9897022092212252092212252:g.209221225A>GClinGen:CA10613862C1562113 121850 Fleck corneal dystrophy;
NM_015040.4(PIKFYVE):c.*1262T>G200576PIKFYVEBenignrs6725527RCV000292840; NMONDO:MONDO:0007376,MedGen:C1562113,OMIM:121850, Orphanet:9897022092212912092212912:g.209221291T>GClinGen:CA10612261C1562113 121850 Fleck corneal dystrophy;
NM_015040.4(PIKFYVE):c.*1358C>T200576PIKFYVEUncertain significancers777999576RCV001140848; NMONDO:MONDO:0007376,MedGen:C1562113,OMIM:121850, Orphanet:9897022092213872092213872:g.209221387C>T-
NM_015040.4(PIKFYVE):c.*1382T>C200576PIKFYVEUncertain significancers892979377RCV001140849; NMONDO:MONDO:0007376,MedGen:C1562113,OMIM:121850, Orphanet:9897022092214112092214112:g.209221411T>C-
NM_015040.4(PIKFYVE):c.*1429G>C200576PIKFYVEUncertain significancers886055543RCV000350061; NMONDO:MONDO:0007376,MedGen:C1562113,OMIM:121850, Orphanet:9897022092214582092214582:g.209221458G>CClinGen:CA10613864C1562113 121850 Fleck corneal dystrophy;
NM_015040.4(PIKFYVE):c.*1499T>G200576PIKFYVEBenignrs41295956RCV000403431; NMONDO:MONDO:0007376,MedGen:C1562113,OMIM:121850, Orphanet:9897022092215282092215282:g.209221528T>GClinGen:CA10613867C1562113 121850 Fleck corneal dystrophy;
NM_015040.4(PIKFYVE):c.*1552G>A200576PIKFYVEUncertain significancers1382245964RCV001140850; NMONDO:MONDO:0007376,MedGen:C1562113,OMIM:121850, Orphanet:9897022092215812092215812:g.209221581G>A-
NM_015040.4(PIKFYVE):c.*1621A>G200576PIKFYVEUncertain significancers1046507081RCV001142696; NMONDO:MONDO:0007376,MedGen:C1562113,OMIM:121850, Orphanet:9897022092216502092216502:g.209221650A>G-
NM_015040.4(PIKFYVE):c.*1624A>T200576PIKFYVEUncertain significancers1435627063RCV001142697; NMONDO:MONDO:0007376,MedGen:C1562113,OMIM:121850, Orphanet:9897022092216532092216532:g.209221653A>T-
NM_015040.4(PIKFYVE):c.*1638del200576PIKFYVEUncertain significancers886055544RCV000310373; NMONDO:MONDO:0007376,MedGen:C1562113,OMIM:121850, Orphanet:9897022092216662092216662:g.209221666_209221666delClinGen:CA10612649C1562113 121850 Fleck corneal dystrophy;
NM_015040.4(PIKFYVE):c.*1826A>G200576PIKFYVEUncertain significancers886055545RCV000363214; NMONDO:MONDO:0007376,MedGen:C1562113,OMIM:121850, Orphanet:9897022092218552092218552:g.209221855A>GClinGen:CA10612650C1562113 121850 Fleck corneal dystrophy;
NM_015040.4(PIKFYVE):c.*1923A>G200576PIKFYVEBenignrs151104146RCV000396804; NMONDO:MONDO:0007376,MedGen:C1562113,OMIM:121850, Orphanet:9897022092219522092219522:g.209221952A>GClinGen:CA10613868C1562113 121850 Fleck corneal dystrophy;
NM_015040.4(PIKFYVE):c.*1938G>C200576PIKFYVEBenignrs140749141RCV000305040; NMONDO:MONDO:0007376,MedGen:C1562113,OMIM:121850, Orphanet:9897022092219672092219672:g.209221967G>CClinGen:CA10614099C1562113 121850 Fleck corneal dystrophy;
NM_015040.4(PIKFYVE):c.*1973_*1974insA200576PIKFYVELikely benignrs199859183RCV000362053; NMONDO:MONDO:0007376,MedGen:C1562113,OMIM:121850, Orphanet:9897022092220022092220032:g.209222002_209222003insAClinGen:CA10612262C1562113 121850 Fleck corneal dystrophy;
NM_015040.4(PIKFYVE):c.*1978T>C200576PIKFYVEBenignrs535013196RCV000264824; NMONDO:MONDO:0007376,MedGen:C1562113,OMIM:121850, Orphanet:9897022092220072092220072:g.209222007T>CClinGen:CA10612651C1562113 121850 Fleck corneal dystrophy;
NM_015040.4(PIKFYVE):c.*2027C>T200576PIKFYVEUncertain significancers551912289RCV000322322; NMONDO:MONDO:0007376,MedGen:C1562113,OMIM:121850, Orphanet:989702209222056209222056NC_000002.11:g.209222056C>TClinGen:CA10612652C1562113 121850 Fleck corneal dystrophy;
NM_015040.4(PIKFYVE):c.*2030G>C200576PIKFYVEUncertain significancers571740486RCV001137954; NMONDO:MONDO:0007376,MedGen:C1562113,OMIM:121850, Orphanet:9897022092220592092220592:g.209222059G>C-
NM_015040.4(PIKFYVE):c.*2143G>C200576PIKFYVEBenignrs184529823RCV000356127; NMONDO:MONDO:0007376,MedGen:C1562113,OMIM:121850, Orphanet:989702209222172209222172NC_000002.11:g.209222172G>CClinGen:CA10612266C1562113 121850 Fleck corneal dystrophy;
NM_015040.4(PIKFYVE):c.*2173C>T200576PIKFYVEBenignrs11538998RCV000263761; NMONDO:MONDO:0007376,MedGen:C1562113,OMIM:121850, Orphanet:989702209222202209222202NC_000002.11:g.209222202C>TClinGen:CA10613880C1562113 121850 Fleck corneal dystrophy;
NM_015040.4(PIKFYVE):c.*2185C>G200576PIKFYVEBenignrs59149007RCV000316914; NMONDO:MONDO:0007376,MedGen:C1562113,OMIM:121850, Orphanet:989702209222214209222214NC_000002.11:g.209222214C>GClinGen:CA10612267C1562113 121850 Fleck corneal dystrophy;
NM_015040.4(PIKFYVE):c.*2218A>T200576PIKFYVEUncertain significancers886055546RCV000387705; NMONDO:MONDO:0007376,MedGen:C1562113,OMIM:121850, Orphanet:989702209222247209222247NC_000002.11:g.209222247A>TClinGen:CA10612269C1562113 121850 Fleck corneal dystrophy;
NM_015040.4(PIKFYVE):c.*2238A>G200576PIKFYVEUncertain significancers1403001936RCV001137955; NMONDO:MONDO:0007376,MedGen:C1562113,OMIM:121850, Orphanet:9897022092222672092222672:g.209222267A>G-
NM_015040.4(PIKFYVE):c.*2247A>G200576PIKFYVEBenignrs13391849RCV000295653; NMONDO:MONDO:0007376,MedGen:C1562113,OMIM:121850, Orphanet:989702209222276209222276NC_000002.11:g.209222276A>GClinGen:CA10614100C1562113 121850 Fleck corneal dystrophy;
NM_015040.4(PIKFYVE):c.*2281del200576PIKFYVEBenignrs56993638RCV000329637; NMONDO:MONDO:0007376,MedGen:C1562113,OMIM:121850, Orphanet:989702209222310209222310NC_000002.11:g.209222310delClinGen:CA10612270C1562113 121850 Fleck corneal dystrophy;
NM_015040.4(PIKFYVE):c.*2495A>G200576PIKFYVEUncertain significancers548954146RCV000386662; NMONDO:MONDO:0007376,MedGen:C1562113,OMIM:121850, Orphanet:989702209222524209222524NC_000002.11:g.209222524A>GClinGen:CA10614102C1562113 121850 Fleck corneal dystrophy;
NM_015040.4(PIKFYVE):c.*2520T>A200576PIKFYVEUncertain significancers1296543469RCV001138369; NMONDO:MONDO:0007376,MedGen:C1562113,OMIM:121850, Orphanet:9897022092225492092225492:g.209222549T>A-
NM_015040.4(PIKFYVE):c.*2520T>C200576PIKFYVEUncertain significancers1296543469RCV001138370; NMONDO:MONDO:0007376,MedGen:C1562113,OMIM:121850, Orphanet:9897022092225492092225492:g.209222549T>C-
NM_015040.4(PIKFYVE):c.*2548C>T200576PIKFYVEUncertain significancers755578829RCV000289913; NMONDO:MONDO:0007376,MedGen:C1562113,OMIM:121850, Orphanet:989702209222577209222577NC_000002.11:g.209222577C>TClinGen:CA10613886C1562113 121850 Fleck corneal dystrophy;
NM_015040.4(PIKFYVE):c.*2549G>A200576PIKFYVEBenignrs16841092RCV000347332; NMONDO:MONDO:0007376,MedGen:C1562113,OMIM:121850, Orphanet:989702209222578209222578NC_000002.11:g.209222578G>AClinGen:CA10612653C1562113 121850 Fleck corneal dystrophy;
NM_015040.4(PIKFYVE):c.*2693A>G200576PIKFYVEBenignrs564043919RCV000405813; NMONDO:MONDO:0007376,MedGen:C1562113,OMIM:121850, Orphanet:989702209222722209222722NC_000002.11:g.209222722A>GClinGen:CA10614111C1562113 121850 Fleck corneal dystrophy;
NM_015040.4(PIKFYVE):c.*2738A>G200576PIKFYVEBenignrs553290241RCV000288887; NMONDO:MONDO:0007376,MedGen:C1562113,OMIM:121850, Orphanet:989702209222767209222767NC_000002.11:g.209222767A>GClinGen:CA10612654C1562113 121850 Fleck corneal dystrophy;
NM_015040.4(PIKFYVE):c.*2739A>C200576PIKFYVEUncertain significancers1208320222RCV001138371; NMONDO:MONDO:0007376,MedGen:C1562113,OMIM:121850, Orphanet:9897022092227682092227682:g.209222768A>C-
NM_015040.4(PIKFYVE):c.*2763C>T200576PIKFYVEUncertain significancers1700260174RCV001138372; NMONDO:MONDO:0007376,MedGen:C1562113,OMIM:121850, Orphanet:9897022092227922092227922:g.209222792C>T-
NM_015040.4(PIKFYVE):c.*2861C>G200576PIKFYVEUncertain significancers1164636943RCV001140956; NMONDO:MONDO:0007376,MedGen:C1562113,OMIM:121850, Orphanet:9897022092228902092228902:g.209222890C>G-
NM_015040.4(PIKFYVE):c.*3027A>C200576PIKFYVEUncertain significancers573143426RCV000341608; NMONDO:MONDO:0007376,MedGen:C1562113,OMIM:121850, Orphanet:989702209223056209223056NC_000002.11:g.209223056A>CClinGen:CA10612656C1562113 121850 Fleck corneal dystrophy;
NM_015040.4(PIKFYVE):c.*3074A>C200576PIKFYVEUncertain significancers749165043RCV001140957; NMONDO:MONDO:0007376,MedGen:C1562113,OMIM:121850, Orphanet:9897022092231032092231032:g.209223103A>C-
NM_015040.4(PIKFYVE):c.*3099_*3100insGTTTTTTTT200576PIKFYVEUncertain significancers1553538567RCV000305804; NMONDO:MONDO:0007376,MedGen:C1562113,OMIM:121850, Orphanet:989702209223123209223124NC_000002.11:g.209223128_209223129insGTTTTTTTTClinGen:CA10612271C1562113 121850 Fleck corneal dystrophy;
NM_015040.4(PIKFYVE):c.*3102_*3104dup200576PIKFYVEBenignrs10622340RCV000405020; NMONDO:MONDO:0007376,MedGen:C1562113,OMIM:121850, Orphanet:989702209223123209223124NC_000002.11:g.209223131_209223133dupClinGen:CA10614113C1562113 121850 Fleck corneal dystrophy;
NM_015040.4(PIKFYVE):c.*3099_*3100insGTT200576PIKFYVEUncertain significancers567074655RCV000341960; NMONDO:MONDO:0007376,MedGen:C1562113,OMIM:121850, Orphanet:989702209223126209223127NC_000002.11:g.209223128_209223129insGTTClinGen:CA10613891C1562113 121850 Fleck corneal dystrophy;
NM_015040.4(PIKFYVE):c.*3100T>G200576PIKFYVEBenignrs539067320RCV001140958; NMONDO:MONDO:0007376,MedGen:C1562113,OMIM:121850, Orphanet:9897022092231292092231292:g.209223129T>G-
NM_015040.4(PIKFYVE):c.*3186A>T200576PIKFYVEUncertain significancers753724076RCV000395415; NMONDO:MONDO:0007376,MedGen:C1562113,OMIM:121850, Orphanet:989702209223215209223215NC_000002.11:g.209223215A>TClinGen:CA10612657C1562113 121850 Fleck corneal dystrophy;
NM_015040.4(PIKFYVE):c.*3304TGTAT[1]200576PIKFYVEBenignrs71968755RCV000297453; NMONDO:MONDO:0007376,MedGen:C1562113,OMIM:121850, Orphanet:989702209223333209223337NC_000002.11:g.209223333TGTAT[1]ClinGen:CA10612658C1562113 121850 Fleck corneal dystrophy;
NM_015040.4(PIKFYVE):c.*3324A>G200576PIKFYVEBenignrs114476866RCV000357007; NMONDO:MONDO:0007376,MedGen:C1562113,OMIM:121850, Orphanet:989702209223353209223353NC_000002.11:g.209223353A>GClinGen:CA10612273C1562113 121850 Fleck corneal dystrophy;
NM_015040.4(PIKFYVE):c.*3329G>T200576PIKFYVEUncertain significancers778853940RCV000262057; NMONDO:MONDO:0007376,MedGen:C1562113,OMIM:121850, Orphanet:989702209223358209223358NC_000002.11:g.209223358G>TClinGen:CA10612659C1562113 121850 Fleck corneal dystrophy;
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