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*:HP: HPO terms, UMDF: 1= Disease, ND: NAMDC terms.
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Parent Node:
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Corneal Dystrophies, Hereditary (D003317)
..Starting node
..expand
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:989702209130983209130983AT2:g.209130983A>TClinGen:CA10654616C1562113 121850 Fleck corneal dystrophy;
NM_015040.4(PIKFYVE):c.-160A>G200576PIKFYVEBenignrs34366347RCV000344924; NMONDO:MONDO:0007376,MedGen:C1562113,OMIM:121850, Orphanet:989702209130989209130989AG2:g.209130989A>GClinGen:CA10654617C1562113 121850 Fleck corneal dystrophy;
NM_015040.4(PIKFYVE):c.-157A>T200576PIKFYVEUncertain significancers886055529RCV000271310; NMONDO:MONDO:0007376,MedGen:C1562113,OMIM:121850, Orphanet:989702209130992209130992AT2:g.209130992A>TClinGen:CA10612219C1562113 121850 Fleck corneal dystrophy;
NM_015040.4(PIKFYVE):c.-153A>T200576PIKFYVEUncertain significance-1RCV001137412; NMONDO:MONDO:0007376,MedGen:C1562113,OMIM:121850, Orphanet:989702209130996209130996AT2:g.209130996A>T-
NM_015040.4(PIKFYVE):c.-134C>T200576PIKFYVEBenign-1RCV001137413; NMONDO:MONDO:0007376,MedGen:C1562113,OMIM:121850, Orphanet:989702209131015209131015CT2:g.209131015C>T-
NM_015040.4(PIKFYVE):c.-10+5G>A200576PIKFYVELikely benignrs541362896RCV000326456; NMONDO:MONDO:0007376,MedGen:C1562113,OMIM:121850, Orphanet:989702209131144209131144GA2:g.209131144G>AClinGen:CA10612222C1562113 121850 Fleck corneal dystrophy;
NM_015040.4(PIKFYVE):c.25C>T (p.Pro9Ser)200576PIKFYVEUncertain significance-1RCV001139647; NMONDO:MONDO:0007376,MedGen:C1562113,OMIM:121850, Orphanet:989702209136268209136268CT2:g.209136268C>T-
NM_015040.4(PIKFYVE):c.37T>C (p.Ser13Pro)200576PIKFYVEUncertain significancers749616889RCV000362470; NMONDO:MONDO:0007376,MedGen:C1562113,OMIM:121850, Orphanet:989702209136280209136280TC2:g.209136280T>CClinGen:CA2079157
NM_015040.4(PIKFYVE):c.64A>C (p.Thr22Pro)200576PIKFYVELikely benignrs373802805RCV000267920; NMONDO:MONDO:0007376,MedGen:C1562113,OMIM:121850, Orphanet:989702209136307209136307AC2:g.209136307A>CClinGen:CA2079162
NM_015040.4(PIKFYVE):c.173-11C>T200576PIKFYVEBenignrs4675744RCV000323054; NMONDO:MONDO:0007376,MedGen:C1562113,OMIM:121850, Orphanet:989702209138297209138297CT2:g.209138297C>TClinGen:CA2079192
NM_015040.4(PIKFYVE):c.235C>A (p.Leu79Ile)200576PIKFYVEUncertain significance-1RCV001139648; NMONDO:MONDO:0007376,MedGen:C1562113,OMIM:121850, Orphanet:989702209138370209138370CA2:g.209138370C>A-
NM_015040.4(PIKFYVE):c.279A>G (p.Lys93=)200576PIKFYVEBenignrs36031854RCV000377720|RCV000948617; NMONDO:MONDO:0007376,MedGen:C1562113,OMIM:121850, Orphanet:98970|MedGen:CN5172022209138414209138414AG2:g.209138414A>GClinGen:CA2079209
NM_015040.4(PIKFYVE):c.307C>T (p.Arg103Cys)200576PIKFYVEUncertain significancers778101021RCV000284516; NMONDO:MONDO:0007376,MedGen:C1562113,OMIM:121850, Orphanet:989702209138442209138442CT2:g.209138442C>TClinGen:CA2079215
NM_015040.4(PIKFYVE):c.308G>A (p.Arg103His)200576PIKFYVEUncertain significance-1RCV001140400; NMONDO:MONDO:0007376,MedGen:C1562113,OMIM:121850, Orphanet:989702209138443209138443GA2:g.209138443G>A-
NM_015040.4(PIKFYVE):c.1051-10G>T200576PIKFYVEBenignrs769292195RCV000318474; NMONDO:MONDO:0007376,MedGen:C1562113,OMIM:121850, Orphanet:989702209165651209165651GT2:g.209165651G>TClinGen:CA2079451
NM_015040.4(PIKFYVE):c.1140G>A (p.Thr380=)200576PIKFYVEUncertain significance-1RCV001140401; NMONDO:MONDO:0007376,MedGen:C1562113,OMIM:121850, Orphanet:989702209165750209165750GA2: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:989702209165816209165816AG2:g.209165816A>G-
NM_015040.4(PIKFYVE):c.1320+4C>T200576PIKFYVEUncertain significance-1RCV001140403; NMONDO:MONDO:0007376,MedGen:C1562113,OMIM:121850, Orphanet:989702209167081209167081CT2:g.209167081C>T-
NM_015040.4(PIKFYVE):c.1468+15C>T200576PIKFYVELikely benign-1RCV001140404; NMONDO:MONDO:0007376,MedGen:C1562113,OMIM:121850, Orphanet:989702209169057209169057CT2:g.209169057C>T-
NM_015040.4(PIKFYVE):c.1522G>C (p.Asp508His)200576PIKFYVEUncertain significancers886055530RCV000375394; NMONDO:MONDO:0007376,MedGen:C1562113,OMIM:121850, Orphanet:989702209169623209169623GC2:g.209169623G>CClinGen:CA10612227
NM_015040.4(PIKFYVE):c.1621C>A (p.Pro541Thr)200576PIKFYVEUncertain significancers886055531RCV000278477; NMONDO:MONDO:0007376,MedGen:C1562113,OMIM:121850, Orphanet:989702209169722209169722CA2:g.209169722C>AClinGen:CA10612636
NM_015040.4(PIKFYVE):c.1711C>T (p.Arg571Cys)200576PIKFYVEUncertain significance-1RCV001140405; NMONDO:MONDO:0007376,MedGen:C1562113,OMIM:121850, Orphanet:989702209179032209179032CT2:g.209179032C>T-
NM_015040.4(PIKFYVE):c.1715G>A (p.Arg572Gln)200576PIKFYVEBenignrs146158348RCV000335905; NMONDO:MONDO:0007376,MedGen:C1562113,OMIM:121850, Orphanet:989702209179036209179036GA2:g.209179036G>AClinGen:CA2079628
NM_015040.4(PIKFYVE):c.1746C>T (p.Phe582=)200576PIKFYVEUncertain significance-1RCV001142264; NMONDO:MONDO:0007376,MedGen:C1562113,OMIM:121850, Orphanet:989702209179067209179067CT2:g.209179067C>T-
NM_015040.4(PIKFYVE):c.1770C>T (p.Asn590=)200576PIKFYVEBenignrs61752185RCV000405428|RCV000879056; NMONDO:MONDO:0007376,MedGen:C1562113,OMIM:121850, Orphanet:98970|MedGen:CN5172022209179091209179091CT2:g.209179091C>TClinGen:CA2079636
NM_015040.4(PIKFYVE):c.1849A>G (p.Met617Val)200576PIKFYVEBenignrs16840913RCV000295958; NMONDO:MONDO:0007376,MedGen:C1562113,OMIM:121850, Orphanet:989702209179939209179939AG2:g.209179939A>GClinGen:CA2079668,UniProtKB:Q9Y2I7#VAR_057097
NM_015040.4(PIKFYVE):c.1928A>G (p.Gln643Arg)200576PIKFYVEUncertain significancers886055532RCV000348639; NMONDO:MONDO:0007376,MedGen:C1562113,OMIM:121850, Orphanet:989702209180018209180018AG2:g.209180018A>GClinGen:CA10612639
NM_015040.4(PIKFYVE):c.1946G>A (p.Arg649Gln)200576PIKFYVELikely benignrs377372888RCV000396084; NMONDO:MONDO:0007376,MedGen:C1562113,OMIM:121850, Orphanet:989702209180036209180036GA2:g.209180036G>AClinGen:CA2079683
NM_015040.4(PIKFYVE):c.1954G>A (p.Val652Ile)200576PIKFYVEBenign-1RCV001142265; NMONDO:MONDO:0007376,MedGen:C1562113,OMIM:121850, Orphanet:989702209180044209180044GA2:g.209180044G>A-
NM_015040.4(PIKFYVE):c.1983C>A (p.Ile661=)200576PIKFYVEBenignrs41305979RCV000308733; NMONDO:MONDO:0007376,MedGen:C1562113,OMIM:121850, Orphanet:989702209180073209180073CA2:g.209180073C>AClinGen:CA2079689
NM_015040.4(PIKFYVE):c.2016T>G (p.Gly672=)200576PIKFYVEBenign-1RCV001137527; NMONDO:MONDO:0007376,MedGen:C1562113,OMIM:121850, Orphanet:989702209182599209182599TG2:g.209182599T>G-
NM_015040.4(PIKFYVE):c.2087G>A (p.Ser696Asn)200576PIKFYVEBenignrs10932258RCV000365792; NMONDO:MONDO:0007376,MedGen:C1562113,OMIM:121850, Orphanet:989702209184980209184980GA2:g.209184980G>AClinGen:CA2079746,UniProtKB:Q9Y2I7#VAR_063406
NM_015040.4(PIKFYVE):c.2106C>T (p.Pro702=)200576PIKFYVEBenignrs10932259RCV000396210; NMONDO:MONDO:0007376,MedGen:C1562113,OMIM:121850, Orphanet:989702209184999209184999CT2:g.209184999C>TClinGen:CA2079750
NM_015040.4(PIKFYVE):c.2164A>G (p.Thr722Ala)200576PIKFYVEBenignrs566701537RCV000307427; NMONDO:MONDO:0007376,MedGen:C1562113,OMIM:121850, Orphanet:989702209185057209185057AG2:g.209185057A>GClinGen:CA2079755
NM_015040.4(PIKFYVE):c.2191-15A>T200576PIKFYVEBenignrs16840942RCV000360080; NMONDO:MONDO:0007376,MedGen:C1562113,OMIM:121850, Orphanet:989702209188851209188851AT2:g.209188851A>TClinGen:CA2079775
NM_015040.4(PIKFYVE):c.2191-6A>T200576PIKFYVEBenign-1RCV001137528; NMONDO:MONDO:0007376,MedGen:C1562113,OMIM:121850, Orphanet:989702209188860209188860AT2:g.209188860A>T-
NM_015040.4(PIKFYVE):c.2331+12T>A200576PIKFYVEBenignrs188586992RCV000267739; NMONDO:MONDO:0007376,MedGen:C1562113,OMIM:121850, Orphanet:989702209189018209189018TA2:g.209189018T>AClinGen:CA2079797
NM_015040.4(PIKFYVE):c.2458+10C>G200576PIKFYVEUncertain significance-1RCV001139733; NMONDO:MONDO:0007376,MedGen:C1562113,OMIM:121850, Orphanet:989702209189771209189771CG2:g.209189771C>G-
NM_015040.4(PIKFYVE):c.2459-10T>C200576PIKFYVELikely benign-1RCV001139734; NMONDO:MONDO:0007376,MedGen:C1562113,OMIM:121850, Orphanet:989702209189984209189984TC2:g.209189984T>C-
NM_015040.4(PIKFYVE):c.2535T>C (p.Ser845=)200576PIKFYVEBenignrs138885638RCV000301705; NMONDO:MONDO:0007376,MedGen:C1562113,OMIM:121850, Orphanet:989702209190070209190070TC2:g.209190070T>CClinGen:CA2079873
NM_015040.4(PIKFYVE):c.2549C>T (p.Ala850Val)200576PIKFYVEBenignrs144852646RCV000358860; NMONDO:MONDO:0007376,MedGen:C1562113,OMIM:121850, Orphanet:989702209190084209190084CT2:g.209190084C>TClinGen:CA2079874
NM_015040.4(PIKFYVE):c.2641C>A (p.Pro881Thr)200576PIKFYVEUncertain significance-1RCV001139735; NMONDO:MONDO:0007376,MedGen:C1562113,OMIM:121850, Orphanet:989702209190176209190176CA2:g.209190176C>A-
NM_015040.4(PIKFYVE):c.2718C>T (p.Tyr906=)200576PIKFYVEBenignrs61752187RCV000263665|RCV000910931; NMONDO:MONDO:0007376,MedGen:C1562113,OMIM:121850, Orphanet:98970|MedGen:CN5172022209190253209190253CT2:g.209190253C>TClinGen:CA2079906
NM_015040.4(PIKFYVE):c.2733C>T (p.Ile911=)200576PIKFYVEUncertain significance-1RCV001139736; NMONDO:MONDO:0007376,MedGen:C1562113,OMIM:121850, Orphanet:989702209190268209190268CT2:g.209190268C>T-
NM_015040.4(PIKFYVE):c.2795T>C (p.Leu932Ser)200576PIKFYVEBenignrs2363468RCV000316508; NMONDO:MONDO:0007376,MedGen:C1562113,OMIM:121850, Orphanet:989702209190330209190330TC2:g.209190330T>CClinGen:CA2079919,UniProtKB:Q9Y2I7#VAR_063407
NM_015040.4(PIKFYVE):c.2802T>A (p.Ile934=)200576PIKFYVEBenignrs61752188RCV000373564; NMONDO:MONDO:0007376,MedGen:C1562113,OMIM:121850, Orphanet:989702209190337209190337TA2:g.209190337T>AClinGen:CA2079922
NM_015040.4(PIKFYVE):c.2873A>T (p.His958Leu)200576PIKFYVEUncertain significance-1RCV001140515; NMONDO:MONDO:0007376,MedGen:C1562113,OMIM:121850, Orphanet:989702209190408209190408AT2:g.209190408A>T-
NM_015040.4(PIKFYVE):c.2881A>G (p.Thr961Ala)200576PIKFYVEBenign-1RCV001140516; NMONDO:MONDO:0007376,MedGen:C1562113,OMIM:121850, Orphanet:989702209190416209190416AG2:g.209190416A>G-
NM_015040.4(PIKFYVE):c.2892G>A (p.Pro964=)200576PIKFYVEBenignrs146556775RCV000276699; NMONDO:MONDO:0007376,MedGen:C1562113,OMIM:121850, Orphanet:989702209190427209190427GA2:g.209190427G>AClinGen:CA2079949
NM_015040.4(PIKFYVE):c.2895G>A (p.Ala965=)200576PIKFYVEBenignrs149763308RCV000334153|RCV000909696; NMONDO:MONDO:0007376,MedGen:C1562113,OMIM:121850, Orphanet:98970|MedGen:CN5172022209190430209190430GA2:g.209190430G>AClinGen:CA2079951
NM_015040.4(PIKFYVE):c.2954A>G (p.Asp985Gly)200576PIKFYVEUncertain significance-1RCV001140517; NMONDO:MONDO:0007376,MedGen:C1562113,OMIM:121850, Orphanet:989702209190489209190489AG2:g.209190489A>G-
NM_015040.4(PIKFYVE):c.2959C>T (p.Gln987Ter)200576PIKFYVEUncertain significancers1559130873RCV000779298; NMONDO:MONDO:0007376,MedGen:C1562113,OMIM:121850, Orphanet:989702209190494209190494CT2:g.209190494C>T-
NM_015040.4(PIKFYVE):c.2962C>T (p.Gln988Ter)200576PIKFYVEPathogenicrs121918337RCV000001767; NMONDO:MONDO:0007376,MedGen:C1562113,OMIM:121850, Orphanet:989702209190497209190497CT2:g.209190497C>TClinGen:CA115150,OMIM:609414.0002C1562113 121850 Fleck corneal dystrophy;
NM_015040.4(PIKFYVE):c.2984A>T (p.Gln995Leu)200576PIKFYVEBenignrs893254RCV000386356; NMONDO:MONDO:0007376,MedGen:C1562113,OMIM:121850, Orphanet:989702209190519209190519AT2:g.209190519A>TClinGen:CA2079970,UniProtKB:Q9Y2I7#VAR_063408
NM_015040.4(PIKFYVE):c.2993C>G (p.Thr998Ser)200576PIKFYVEBenignrs893253RCV000293929; NMONDO:MONDO:0007376,MedGen:C1562113,OMIM:121850, Orphanet:989702209190528209190528CG2:g.209190528C>GClinGen:CA2079972,UniProtKB:Q9Y2I7#VAR_063409
NM_015040.4(PIKFYVE):c.3097T>G (p.Ser1033Ala)200576PIKFYVEBenignrs999890RCV000346500; NMONDO:MONDO:0007376,MedGen:C1562113,OMIM:121850, Orphanet:989702209190632209190632TG2:g.209190632T>GClinGen:CA2079986,UniProtKB:Q9Y2I7#VAR_057098
NM_015040.4(PIKFYVE):c.3114A>G (p.Arg1038=)200576PIKFYVEBenignrs999891RCV000385242; NMONDO:MONDO:0007376,MedGen:C1562113,OMIM:121850, Orphanet:989702209190649209190649AG2:g.209190649A>GClinGen:CA2079991
NM_015040.4(PIKFYVE):c.3122A>G (p.Tyr1041Cys)200576PIKFYVEUncertain significancers886055533RCV000288578; NMONDO:MONDO:0007376,MedGen:C1562113,OMIM:121850, Orphanet:989702209190657209190657AG2:g.209190657A>GClinGen:CA10613810
NM_015040.4(PIKFYVE):c.3150dup (p.Asp1051fs)200576PIKFYVEPathogenicrs869312464RCV000209630; NMONDO:MONDO:0007376,MedGen:C1562113,OMIM:121850, Orphanet:989702209190681209190682TTA2: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:989702209190805209190805CG2:g.209190805C>GClinGen:CA10614034
NM_015040.4(PIKFYVE):c.3308A>G (p.Lys1103Arg)200576PIKFYVEPathogenicrs121918336RCV000001766; NMONDO:MONDO:0007376,MedGen:C1562113,OMIM:121850, Orphanet:989702209190843209190843AG2: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:989702209190889209190889AG2:g.209190889A>GClinGen:CA2080025
NM_015040.4(PIKFYVE):c.3459C>T (p.Ala1153=)200576PIKFYVEBenign-1RCV001137609; NMONDO:MONDO:0007376,MedGen:C1562113,OMIM:121850, Orphanet:989702209190994209190994CT2:g.209190994C>T-
NM_015040.4(PIKFYVE):c.3500C>G (p.Ser1167Ter)200576PIKFYVELikely pathogenicrs780579562RCV000490347; NMONDO:MONDO:0007376,MedGen:C1562113,OMIM:121850, Orphanet:989702209191035209191035CG2: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:989702209191046209191046GA2:g.209191046G>AClinGen:CA2080050
NM_015040.4(PIKFYVE):c.3547C>A (p.Gln1183Lys)200576PIKFYVEBenignrs1529979RCV000339815; NMONDO:MONDO:0007376,MedGen:C1562113,OMIM:121850, Orphanet:989702209191082209191082CA2:g.209191082C>AClinGen:CA2080059,UniProtKB:Q9Y2I7#VAR_063410
NM_015040.4(PIKFYVE):c.3564T>C (p.Asn1188=)200576PIKFYVEBenignrs1529978RCV000395304; NMONDO:MONDO:0007376,MedGen:C1562113,OMIM:121850, Orphanet:989702209191099209191099TC2:g.209191099T>CClinGen:CA2080062
NM_015040.4(PIKFYVE):c.3719+14C>A200576PIKFYVEBenign-1RCV001137610; NMONDO:MONDO:0007376,MedGen:C1562113,OMIM:121850, Orphanet:989702209193018209193018CA2:g.209193018C>A-
NM_015040.4(PIKFYVE):c.3804G>C (p.Gln1268His)200576PIKFYVELikely benign-1RCV001137611; NMONDO:MONDO:0007376,MedGen:C1562113,OMIM:121850, Orphanet:989702209195259209195259GC2:g.209195259G>C-
NM_015040.4(PIKFYVE):c.4156C>T (p.Arg1386Trp)200576PIKFYVEBenign-1RCV001137612; NMONDO:MONDO:0007376,MedGen:C1562113,OMIM:121850, Orphanet:989702209200043209200043CT2:g.209200043C>T-
NM_015040.4(PIKFYVE):c.4167_4170del (p.Glu1389fs)200576PIKFYVEPathogenicrs387907335RCV000034837; NMONDO:MONDO:0007376,MedGen:C1562113,OMIM:121850, Orphanet:989702209200054209200057GAAGTG2: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:CN5172022209200102209200102AG2:g.209200102A>GClinGen:CA2080250
NM_015040.4(PIKFYVE):c.4436C>G (p.Thr1479Ser)200576PIKFYVEBenignrs144573813RCV000356539; NMONDO:MONDO:0007376,MedGen:C1562113,OMIM:121850, Orphanet:989702209200840209200840CG2:g.209200840C>GClinGen:CA2080319
NM_015040.4(PIKFYVE):c.4455G>A (p.Ser1485=)200576PIKFYVEBenignrs145498570RCV000259284|RCV000916339; NMONDO:MONDO:0007376,MedGen:C1562113,OMIM:121850, Orphanet:98970|MedGen:CN5172022209200859209200859GA2:g.209200859G>AClinGen:CA2080323
NM_015040.4(PIKFYVE):c.4559G>T (p.Arg1520Ile)200576PIKFYVEUncertain significance-1RCV001139837; NMONDO:MONDO:0007376,MedGen:C1562113,OMIM:121850, Orphanet:989702209201600209201600GT2:g.209201600G>T-
NM_015040.4(PIKFYVE):c.4567G>A (p.Val1523Ile)200576PIKFYVEUncertain significance-1RCV001139838; NMONDO:MONDO:0007376,MedGen:C1562113,OMIM:121850, Orphanet:989702209201608209201608GA2:g.209201608G>A-
NM_015040.4(PIKFYVE):c.4585A>C (p.Arg1529=)200576PIKFYVEBenign-1RCV001139839; NMONDO:MONDO:0007376,MedGen:C1562113,OMIM:121850, Orphanet:989702209201626209201626AC2:g.209201626A>C-
NM_015040.4(PIKFYVE):c.4607G>A (p.Ser1536Asn)200576PIKFYVEUncertain significance-1RCV001139840; NMONDO:MONDO:0007376,MedGen:C1562113,OMIM:121850, Orphanet:989702209201648209201648GA2:g.209201648G>A-
NM_015040.4(PIKFYVE):c.4629A>G (p.Ala1543=)200576PIKFYVEBenignrs61752190RCV000298050|RCV000951242; NMONDO:MONDO:0007376,MedGen:C1562113,OMIM:121850, Orphanet:98970|MedGen:CN5172022209203249209203249AG2:g.209203249A>GClinGen:CA2080373
NM_015040.4(PIKFYVE):c.4640A>G (p.Asn1547Ser)200576PIKFYVEUncertain significance-1RCV001140622; NMONDO:MONDO:0007376,MedGen:C1562113,OMIM:121850, Orphanet:989702209203260209203260AG2:g.209203260A>G-
NM_015040.4(PIKFYVE):c.4731A>G (p.Gln1577=)200576PIKFYVEBenignrs35066043RCV000369116|RCV000948618; NMONDO:MONDO:0007376,MedGen:C1562113,OMIM:121850, Orphanet:98970|MedGen:CN5172022209204200209204200AG2:g.209204200A>GClinGen:CA2080423
NM_015040.4(PIKFYVE):c.4774G>A (p.Gly1592Arg)200576PIKFYVEBenignrs148994064RCV000277100|RCV000950645; NMONDO:MONDO:0007376,MedGen:C1562113,OMIM:121850, Orphanet:98970|MedGen:CN5172022209204243209204243GA2:g.209204243G>AClinGen:CA2080434
NM_015040.4(PIKFYVE):c.4811-9T>C200576PIKFYVEBenign-1RCV001140623; NMONDO:MONDO:0007376,MedGen:C1562113,OMIM:121850, Orphanet:989702209204726209204726TC2:g.209204726T>C-
NM_015040.4(PIKFYVE):c.4814T>G (p.Val1605Gly)200576PIKFYVEBenignrs61752191RCV000329856; NMONDO:MONDO:0007376,MedGen:C1562113,OMIM:121850, Orphanet:989702209204738209204738TG2:g.209204738T>GClinGen:CA2080466
NM_015040.4(PIKFYVE):c.4932-13A>C200576PIKFYVEBenign-1RCV001140624; NMONDO:MONDO:0007376,MedGen:C1562113,OMIM:121850, Orphanet:989702209207265209207265AC2:g.209207265A>C-
NM_015040.4(PIKFYVE):c.4958A>G (p.Tyr1653Cys)200576PIKFYVEUncertain significancers886055534RCV000386604; NMONDO:MONDO:0007376,MedGen:C1562113,OMIM:121850, Orphanet:989702209207304209207304AG2:g.209207304A>GClinGen:CA10614052
NM_015040.4(PIKFYVE):c.4989C>T (p.Cys1663=)200576PIKFYVEBenignrs35784095RCV000271233; NMONDO:MONDO:0007376,MedGen:C1562113,OMIM:121850, Orphanet:989702209207335209207335CT2:g.209207335C>TClinGen:CA2080490
NM_015040.4(PIKFYVE):c.5028-8G>A200576PIKFYVEBenignrs2304544RCV000328743; NMONDO:MONDO:0007376,MedGen:C1562113,OMIM:121850, Orphanet:989702209209827209209827GA2:g.209209827G>AClinGen:CA2080513
NM_015040.4(PIKFYVE):c.5088C>T (p.Ala1696=)200576PIKFYVEUncertain significance-1RCV001142483; NMONDO:MONDO:0007376,MedGen:C1562113,OMIM:121850, Orphanet:989702209209895209209895CT2:g.209209895C>T-
NM_015040.4(PIKFYVE):c.5137A>G (p.Ser1713Gly)200576PIKFYVELikely benign-1RCV001142484; NMONDO:MONDO:0007376,MedGen:C1562113,OMIM:121850, Orphanet:989702209210799209210799AG2:g.209210799A>G-
NM_015040.4(PIKFYVE):c.5296C>T (p.Arg1766Cys)200576PIKFYVEUncertain significance-1RCV001142485; NMONDO:MONDO:0007376,MedGen:C1562113,OMIM:121850, Orphanet:989702209212669209212669CT2:g.209212669C>T-
NM_015040.4(PIKFYVE):c.5322G>C (p.Gln1774His)200576PIKFYVEBenignrs146673873RCV000380983; NMONDO:MONDO:0007376,MedGen:C1562113,OMIM:121850, Orphanet:989702209212695209212695GC2:g.209212695G>CClinGen:CA2080595
NM_015040.4(PIKFYVE):c.5334G>A (p.Thr1778=)200576PIKFYVEBenignrs2304545RCV000288994; NMONDO:MONDO:0007376,MedGen:C1562113,OMIM:121850, Orphanet:989702209212707209212707GA2:g.209212707G>AClinGen:CA2080597
NM_015040.4(PIKFYVE):c.5343G>A (p.Glu1781=)200576PIKFYVEBenignrs140774753RCV000341665; NMONDO:MONDO:0007376,MedGen:C1562113,OMIM:121850, Orphanet:989702209212716209212716GA2:g.209212716G>AClinGen:CA2080598
NM_015040.4(PIKFYVE):c.5397A>G (p.Thr1799=)200576PIKFYVEBenignrs2118297RCV000379957; NMONDO:MONDO:0007376,MedGen:C1562113,OMIM:121850, Orphanet:989702209214770209214770AG2:g.209214770A>GClinGen:CA2080624
NM_015040.4(PIKFYVE):c.5434+12A>T200576PIKFYVEBenign-1RCV001137732; NMONDO:MONDO:0007376,MedGen:C1562113,OMIM:121850, Orphanet:989702209214819209214819AT2:g.209214819A>T-
NM_015040.4(PIKFYVE):c.5511T>C (p.Ile1837=)200576PIKFYVEBenignrs13020468RCV000283380; NMONDO:MONDO:0007376,MedGen:C1562113,OMIM:121850, Orphanet:989702209215571209215571TC2:g.209215571T>CClinGen:CA2080665
NM_015040.4(PIKFYVE):c.5526A>G (p.Glu1842=)200576PIKFYVEBenignrs994697RCV000340728; NMONDO:MONDO:0007376,MedGen:C1562113,OMIM:121850, Orphanet:989702209215586209215586AG2:g.209215586A>GClinGen:CA2080666
NM_015040.4(PIKFYVE):c.5573G>A (p.Arg1858Gln)200576PIKFYVEBenignrs2289170RCV000402868; NMONDO:MONDO:0007376,MedGen:C1562113,OMIM:121850, Orphanet:989702209215633209215633GA2:g.209215633G>AClinGen:CA2080674,UniProtKB:Q9Y2I7#VAR_057099
NM_015040.4(PIKFYVE):c.5594C>T (p.Ala1865Val)200576PIKFYVEBenignrs137922460RCV000297361; NMONDO:MONDO:0007376,MedGen:C1562113,OMIM:121850, Orphanet:989702209215654209215654CT2:g.209215654C>TClinGen:CA2080676
NM_015040.4(PIKFYVE):c.5716-11C>A200576PIKFYVEUncertain significancers886055535RCV000336019; NMONDO:MONDO:0007376,MedGen:C1562113,OMIM:121850, Orphanet:989702209217367209217367CA2:g.209217367C>AClinGen:CA10614094
NM_015040.4(PIKFYVE):c.5716-4T>C200576PIKFYVEUncertain significance-1RCV001139965; NMONDO:MONDO:0007376,MedGen:C1562113,OMIM:121850, Orphanet:989702209217374209217374TC2:g.209217374T>C-
NM_015040.4(PIKFYVE):c.5727G>A (p.Ala1909=)200576PIKFYVELikely benignrs147789704RCV000397687; NMONDO:MONDO:0007376,MedGen:C1562113,OMIM:121850, Orphanet:989702209217389209217389GA2:g.209217389G>AClinGen:CA2080729
NM_015040.4(PIKFYVE):c.5727G>T (p.Ala1909=)200576PIKFYVEBenignrs147789704RCV000314967|RCV000903892; NMONDO:MONDO:0007376,MedGen:C1562113,OMIM:121850, Orphanet:98970|MedGen:CN5172022209217389209217389GT2:g.209217389G>TClinGen:CA2080728
NM_015040.4(PIKFYVE):c.6060G>A (p.Leu2020=)200576PIKFYVEBenign-1RCV001139966; NMONDO:MONDO:0007376,MedGen:C1562113,OMIM:121850, Orphanet:989702209218837209218837GA2:g.209218837G>A-
NM_015040.4(PIKFYVE):c.6165A>C (p.Gly2055=)200576PIKFYVEUncertain significance-1RCV001139967; NMONDO:MONDO:0007376,MedGen:C1562113,OMIM:121850, Orphanet:989702209219353209219353AC2:g.209219353A>C-
NM_015040.4(PIKFYVE):c.6243C>T (p.Asp2081=)200576PIKFYVELikely benign-1RCV001139968; NMONDO:MONDO:0007376,MedGen:C1562113,OMIM:121850, Orphanet:989702209219975209219975CT2:g.209219975C>T-
NM_015040.4(PIKFYVE):c.*78T>C200576PIKFYVEBenignrs115754381RCV000367108; NMONDO:MONDO:0007376,MedGen:C1562113,OMIM:121850, Orphanet:989702209220107209220107TC2:g.209220107T>CClinGen:CA10612645
NM_015040.4(PIKFYVE):c.*128G>T200576PIKFYVEBenignrs10208191RCV000397699; NMONDO:MONDO:0007376,MedGen:C1562113,OMIM:121850, Orphanet:989702209220157209220157GT2:g.209220157G>TClinGen:CA10613825
NM_015040.4(PIKFYVE):c.*209G>C200576PIKFYVEBenignrs10208295RCV000308950; NMONDO:MONDO:0007376,MedGen:C1562113,OMIM:121850, Orphanet:989702209220238209220238GC2:g.209220238G>CClinGen:CA10614095
NM_015040.4(PIKFYVE):c.*210G>A200576PIKFYVEBenign-1RCV001140721; NMONDO:MONDO:0007376,MedGen:C1562113,OMIM:121850, Orphanet:989702209220239209220239GA2:g.209220239G>A-
NM_015040.4(PIKFYVE):c.*240C>T200576PIKFYVEUncertain significancers567925149RCV000365972; NMONDO:MONDO:0007376,MedGen:C1562113,OMIM:121850, Orphanet:989702209220269209220269CT2:g.209220269C>TClinGen:CA10612257
NM_015040.4(PIKFYVE):c.*492T>A200576PIKFYVEUncertain significance-1RCV001140722; NMONDO:MONDO:0007376,MedGen:C1562113,OMIM:121850, Orphanet:989702209220521209220521TA2:g.209220521T>A-
NM_015040.4(PIKFYVE):c.*518C>A200576PIKFYVEUncertain significancers148739344RCV000268778; NMONDO:MONDO:0007376,MedGen:C1562113,OMIM:121850, Orphanet:989702209220547209220547CA2:g.209220547C>AClinGen:CA10612647
NM_015040.4(PIKFYVE):c.*518C>T200576PIKFYVEUncertain significance-1RCV001142589; NMONDO:MONDO:0007376,MedGen:C1562113,OMIM:121850, Orphanet:989702209220547209220547CT2:g.209220547C>T-
NM_015040.4(PIKFYVE):c.*519G>A200576PIKFYVEUncertain significance-1RCV001142590; NMONDO:MONDO:0007376,MedGen:C1562113,OMIM:121850, Orphanet:989702209220548209220548GA2:g.209220548G>A-
NM_015040.4(PIKFYVE):c.*552T>G200576PIKFYVEUncertain significancers886055536RCV000326136; NMONDO:MONDO:0007376,MedGen:C1562113,OMIM:121850, Orphanet:989702209220581209220581TG2:g.209220581T>GClinGen:CA10614096
NM_015040.4(PIKFYVE):c.*615T>A200576PIKFYVEUncertain significancers182741783RCV000359835; NMONDO:MONDO:0007376,MedGen:C1562113,OMIM:121850, Orphanet:989702209220644209220644TA2:g.209220644T>AClinGen:CA10613826
NM_015040.4(PIKFYVE):c.*720A>G200576PIKFYVEUncertain significancers886055537RCV000267522; NMONDO:MONDO:0007376,MedGen:C1562113,OMIM:121850, Orphanet:989702209220749209220749AG2:g.209220749A>GClinGen:CA10613827
NM_015040.4(PIKFYVE):c.*729T>C200576PIKFYVEUncertain significancers144852130RCV000320473; NMONDO:MONDO:0007376,MedGen:C1562113,OMIM:121850, Orphanet:989702209220758209220758TC2:g.209220758T>CClinGen:CA10612648
NM_015040.4(PIKFYVE):c.*772dup200576PIKFYVEUncertain significancers886055538RCV000377464; NMONDO:MONDO:0007376,MedGen:C1562113,OMIM:121850, Orphanet:989702209220795209220796GGT2:g.209220795_209220796insTClinGen:CA10613835C1562113 121850 Fleck corneal dystrophy;
NM_015040.4(PIKFYVE):c.*777A>G200576PIKFYVEUncertain significancers886055539RCV000280674; NMONDO:MONDO:0007376,MedGen:C1562113,OMIM:121850, Orphanet:989702209220806209220806AG2:g.209220806A>GClinGen:CA10613836C1562113 121850 Fleck corneal dystrophy;
NM_015040.4(PIKFYVE):c.*798A>G200576PIKFYVEUncertain significancers886055540RCV000319295; NMONDO:MONDO:0007376,MedGen:C1562113,OMIM:121850, Orphanet:989702209220827209220827AG2:g.209220827A>GClinGen:CA10614097C1562113 121850 Fleck corneal dystrophy;
NM_015040.4(PIKFYVE):c.*814T>G200576PIKFYVEUncertain significance-1RCV001137841; NMONDO:MONDO:0007376,MedGen:C1562113,OMIM:121850, Orphanet:989702209220843209220843TG2:g.209220843T>G-
NM_015040.4(PIKFYVE):c.*868T>C200576PIKFYVEUncertain significance-1RCV001137842; NMONDO:MONDO:0007376,MedGen:C1562113,OMIM:121850, Orphanet:989702209220897209220897TC2:g.209220897T>C-
NM_015040.4(PIKFYVE):c.*968G>T200576PIKFYVEUncertain significance-1RCV001140085; NMONDO:MONDO:0007376,MedGen:C1562113,OMIM:121850, Orphanet:989702209220997209220997GT2:g.209220997G>T-
NM_015040.4(PIKFYVE):c.*1001G>T200576PIKFYVEUncertain significancers886055541RCV000372335; NMONDO:MONDO:0007376,MedGen:C1562113,OMIM:121850, Orphanet:989702209221030209221030GT2:g.209221030G>TClinGen:CA10612258C1562113 121850 Fleck corneal dystrophy;
NM_015040.4(PIKFYVE):c.*1090A>G200576PIKFYVEUncertain significancers41305981RCV000280154; NMONDO:MONDO:0007376,MedGen:C1562113,OMIM:121850, Orphanet:989702209221119209221119AG2:g.209221119A>GClinGen:CA10613847C1562113 121850 Fleck corneal dystrophy;
NM_015040.4(PIKFYVE):c.*1098A>G200576PIKFYVEBenignrs147936107RCV000351498; NMONDO:MONDO:0007376,MedGen:C1562113,OMIM:121850, Orphanet:989702209221127209221127AG2:g.209221127A>GClinGen:CA10613849C1562113 121850 Fleck corneal dystrophy;
NM_015040.4(PIKFYVE):c.*1196A>G200576PIKFYVEUncertain significancers886055542RCV000404250; NMONDO:MONDO:0007376,MedGen:C1562113,OMIM:121850, Orphanet:989702209221225209221225AG2:g.209221225A>GClinGen:CA10613862C1562113 121850 Fleck corneal dystrophy;
NM_015040.4(PIKFYVE):c.*1262T>G200576PIKFYVEBenignrs6725527RCV000292840; NMONDO:MONDO:0007376,MedGen:C1562113,OMIM:121850, Orphanet:989702209221291209221291TG2:g.209221291T>GClinGen:CA10612261C1562113 121850 Fleck corneal dystrophy;
NM_015040.4(PIKFYVE):c.*1358C>T200576PIKFYVEUncertain significance-1RCV001140848; NMONDO:MONDO:0007376,MedGen:C1562113,OMIM:121850, Orphanet:989702209221387209221387CT2:g.209221387C>T-
NM_015040.4(PIKFYVE):c.*1382T>C200576PIKFYVEUncertain significance-1RCV001140849; NMONDO:MONDO:0007376,MedGen:C1562113,OMIM:121850, Orphanet:989702209221411209221411TC2:g.209221411T>C-
NM_015040.4(PIKFYVE):c.*1429G>C200576PIKFYVEUncertain significancers886055543RCV000350061; NMONDO:MONDO:0007376,MedGen:C1562113,OMIM:121850, Orphanet:989702209221458209221458GC2:g.209221458G>CClinGen:CA10613864C1562113 121850 Fleck corneal dystrophy;
NM_015040.4(PIKFYVE):c.*1499T>G200576PIKFYVEBenignrs41295956RCV000403431; NMONDO:MONDO:0007376,MedGen:C1562113,OMIM:121850, Orphanet:989702209221528209221528TG2:g.209221528T>GClinGen:CA10613867C1562113 121850 Fleck corneal dystrophy;
NM_015040.4(PIKFYVE):c.*1552G>A200576PIKFYVEUncertain significance-1RCV001140850; NMONDO:MONDO:0007376,MedGen:C1562113,OMIM:121850, Orphanet:989702209221581209221581GA2:g.209221581G>A-
NM_015040.4(PIKFYVE):c.*1621A>G200576PIKFYVEUncertain significance-1RCV001142696; NMONDO:MONDO:0007376,MedGen:C1562113,OMIM:121850, Orphanet:989702209221650209221650AG2:g.209221650A>G-
NM_015040.4(PIKFYVE):c.*1624A>T200576PIKFYVEUncertain significance-1RCV001142697; NMONDO:MONDO:0007376,MedGen:C1562113,OMIM:121850, Orphanet:989702209221653209221653AT2:g.209221653A>T-
NM_015040.4(PIKFYVE):c.*1638del200576PIKFYVEUncertain significancers886055544RCV000310373; NMONDO:MONDO:0007376,MedGen:C1562113,OMIM:121850, Orphanet:989702209221666209221666ATA2:g.209221666_209221666delClinGen:CA10612649C1562113 121850 Fleck corneal dystrophy;
NM_015040.4(PIKFYVE):c.*1826A>G200576PIKFYVEUncertain significancers886055545RCV000363214; NMONDO:MONDO:0007376,MedGen:C1562113,OMIM:121850, Orphanet:989702209221855209221855AG2:g.209221855A>GClinGen:CA10612650C1562113 121850 Fleck corneal dystrophy;
NM_015040.4(PIKFYVE):c.*1923A>G200576PIKFYVEBenignrs151104146RCV000396804; NMONDO:MONDO:0007376,MedGen:C1562113,OMIM:121850, Orphanet:989702209221952209221952AG2:g.209221952A>GClinGen:CA10613868C1562113 121850 Fleck corneal dystrophy;
NM_015040.4(PIKFYVE):c.*1938G>C200576PIKFYVEBenignrs140749141RCV000305040; NMONDO:MONDO:0007376,MedGen:C1562113,OMIM:121850, Orphanet:989702209221967209221967GC2:g.209221967G>CClinGen:CA10614099C1562113 121850 Fleck corneal dystrophy;
NM_015040.4(PIKFYVE):c.*1973_*1974insA200576PIKFYVELikely benignrs199859183RCV000362053; NMONDO:MONDO:0007376,MedGen:C1562113,OMIM:121850, Orphanet:989702209222002209222003TTA2:g.209222002_209222003insAClinGen:CA10612262C1562113 121850 Fleck corneal dystrophy;
NM_015040.4(PIKFYVE):c.*1978T>C200576PIKFYVEBenignrs535013196RCV000264824; NMONDO:MONDO:0007376,MedGen:C1562113,OMIM:121850, Orphanet:989702209222007209222007TC2:g.209222007T>CClinGen:CA10612651C1562113 121850 Fleck corneal dystrophy;
NM_015040.4(PIKFYVE):c.*2027C>T200576PIKFYVEUncertain significancers551912289RCV000322322; NMONDO:MONDO:0007376,MedGen:C1562113,OMIM:121850, Orphanet:989702209222056209222056CT2:g.209222056C>TClinGen:CA10612652
NM_015040.4(PIKFYVE):c.*2030G>C200576PIKFYVEUncertain significance-1RCV001137954; NMONDO:MONDO:0007376,MedGen:C1562113,OMIM:121850, Orphanet:989702209222059209222059GC2:g.209222059G>C-
NM_015040.4(PIKFYVE):c.*2143G>C200576PIKFYVEBenignrs184529823RCV000356127; NMONDO:MONDO:0007376,MedGen:C1562113,OMIM:121850, Orphanet:989702209222172209222172GC2:g.209222172G>CClinGen:CA10612266
NM_015040.4(PIKFYVE):c.*2173C>T200576PIKFYVEBenignrs11538998RCV000263761; NMONDO:MONDO:0007376,MedGen:C1562113,OMIM:121850, Orphanet:989702209222202209222202CT2:g.209222202C>TClinGen:CA10613880
NM_015040.4(PIKFYVE):c.*2185C>G200576PIKFYVEBenignrs59149007RCV000316914; NMONDO:MONDO:0007376,MedGen:C1562113,OMIM:121850, Orphanet:989702209222214209222214CG2:g.209222214C>GClinGen:CA10612267
NM_015040.4(PIKFYVE):c.*2218A>T200576PIKFYVEUncertain significancers886055546RCV000387705; NMONDO:MONDO:0007376,MedGen:C1562113,OMIM:121850, Orphanet:989702209222247209222247AT2:g.209222247A>TClinGen:CA10612269
NM_015040.4(PIKFYVE):c.*2238A>G200576PIKFYVEUncertain significance-1RCV001137955; NMONDO:MONDO:0007376,MedGen:C1562113,OMIM:121850, Orphanet:989702209222267209222267AG2:g.209222267A>G-
NM_015040.4(PIKFYVE):c.*2247A>G200576PIKFYVEBenignrs13391849RCV000295653; NMONDO:MONDO:0007376,MedGen:C1562113,OMIM:121850, Orphanet:989702209222276209222276AG2:g.209222276A>GClinGen:CA10614100
NM_015040.4(PIKFYVE):c.*2281del200576PIKFYVEBenignrs56993638RCV000329637; NMONDO:MONDO:0007376,MedGen:C1562113,OMIM:121850, Orphanet:989702209222310209222310TGT2:g.209222310_209222310delClinGen:CA10612270
NM_015040.4(PIKFYVE):c.*2495A>G200576PIKFYVEUncertain significancers548954146RCV000386662; NMONDO:MONDO:0007376,MedGen:C1562113,OMIM:121850, Orphanet:989702209222524209222524AG2:g.209222524A>GClinGen:CA10614102
NM_015040.4(PIKFYVE):c.*2520T>A200576PIKFYVEUncertain significance-1RCV001138369; NMONDO:MONDO:0007376,MedGen:C1562113,OMIM:121850, Orphanet:989702209222549209222549TA2:g.209222549T>A-
NM_015040.4(PIKFYVE):c.*2520T>C200576PIKFYVEUncertain significance-1RCV001138370; NMONDO:MONDO:0007376,MedGen:C1562113,OMIM:121850, Orphanet:989702209222549209222549TC2:g.209222549T>C-
NM_015040.4(PIKFYVE):c.*2548C>T200576PIKFYVEUncertain significancers755578829RCV000289913; NMONDO:MONDO:0007376,MedGen:C1562113,OMIM:121850, Orphanet:989702209222577209222577CT2:g.209222577C>TClinGen:CA10613886
NM_015040.4(PIKFYVE):c.*2549G>A200576PIKFYVEBenignrs16841092RCV000347332; NMONDO:MONDO:0007376,MedGen:C1562113,OMIM:121850, Orphanet:989702209222578209222578GA2:g.209222578G>AClinGen:CA10612653
NM_015040.4(PIKFYVE):c.*2693A>G200576PIKFYVEBenignrs564043919RCV000405813; NMONDO:MONDO:0007376,MedGen:C1562113,OMIM:121850, Orphanet:989702209222722209222722AG2:g.209222722A>GClinGen:CA10614111
NM_015040.4(PIKFYVE):c.*2738A>G200576PIKFYVEBenignrs553290241RCV000288887; NMONDO:MONDO:0007376,MedGen:C1562113,OMIM:121850, Orphanet:989702209222767209222767AG2:g.209222767A>GClinGen:CA10612654
NM_015040.4(PIKFYVE):c.*2739A>C200576PIKFYVEUncertain significance-1RCV001138371; NMONDO:MONDO:0007376,MedGen:C1562113,OMIM:121850, Orphanet:989702209222768209222768AC2:g.209222768A>C-
NM_015040.4(PIKFYVE):c.*2763C>T200576PIKFYVEUncertain significance-1RCV001138372; NMONDO:MONDO:0007376,MedGen:C1562113,OMIM:121850, Orphanet:989702209222792209222792CT2:g.209222792C>T-
NM_015040.4(PIKFYVE):c.*2861C>G200576PIKFYVEUncertain significance-1RCV001140956; NMONDO:MONDO:0007376,MedGen:C1562113,OMIM:121850, Orphanet:989702209222890209222890CG2:g.209222890C>G-
NM_015040.4(PIKFYVE):c.*3027A>C200576PIKFYVEUncertain significancers573143426RCV000341608; NMONDO:MONDO:0007376,MedGen:C1562113,OMIM:121850, Orphanet:989702209223056209223056AC2:g.209223056A>CClinGen:CA10612656
NM_015040.4(PIKFYVE):c.*3074A>C200576PIKFYVEUncertain significance-1RCV001140957; NMONDO:MONDO:0007376,MedGen:C1562113,OMIM:121850, Orphanet:989702209223103209223103AC2:g.209223103A>C-
NM_015040.4(PIKFYVE):c.*3099_*3100insGTTTTTTTT200576PIKFYVEUncertain significancers1553538567RCV000305804; NMONDO:MONDO:0007376,MedGen:C1562113,OMIM:121850, Orphanet:989702209223123209223124GGTTTTTGTTT2:g.209223123_209223124insTTTTTGTTTClinGen:CA10612271
NM_015040.4(PIKFYVE):c.*3102_*3104dup200576PIKFYVEBenignrs10622340RCV000405020; NMONDO:MONDO:0007376,MedGen:C1562113,OMIM:121850, Orphanet:989702209223123209223124GGTTT2:g.209223123_209223124insTTTClinGen:CA10614113
NM_015040.4(PIKFYVE):c.*3099_*3100insGTT200576PIKFYVEUncertain significancers567074655RCV000341960; NMONDO:MONDO:0007376,MedGen:C1562113,OMIM:121850, Orphanet:989702209223126209223127TTTTG2:g.209223126_209223127insTTGClinGen:CA10613891
NM_015040.4(PIKFYVE):c.*3100T>G200576PIKFYVEBenign-1RCV001140958; NMONDO:MONDO:0007376,MedGen:C1562113,OMIM:121850, Orphanet:989702209223129209223129TG2:g.209223129T>G-
NM_015040.4(PIKFYVE):c.*3186A>T200576PIKFYVEUncertain significancers753724076RCV000395415; NMONDO:MONDO:0007376,MedGen:C1562113,OMIM:121850, Orphanet:989702209223215209223215AT2:g.209223215A>TClinGen:CA10612657
NM_015040.4(PIKFYVE):c.*3304_*3308TGTAT[1]200576PIKFYVEBenignrs71968755RCV000297453; NMONDO:MONDO:0007376,MedGen:C1562113,OMIM:121850, Orphanet:989702209223333209223337ATGTATA2:g.209223333_209223337delClinGen:CA10612658
NM_015040.4(PIKFYVE):c.*3324A>G200576PIKFYVEBenignrs114476866RCV000357007; NMONDO:MONDO:0007376,MedGen:C1562113,OMIM:121850, Orphanet:989702209223353209223353AG2:g.209223353A>GClinGen:CA10612273
NM_015040.4(PIKFYVE):c.*3329G>T200576PIKFYVEUncertain significancers778853940RCV000262057; NMONDO:MONDO:0007376,MedGen:C1562113,OMIM:121850, Orphanet:989702209223358209223358GT2:g.209223358G>TClinGen:CA10612659
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