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Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

MSeqDR Mitochondrial Disease Portal

*:HP: HPO terms, UMDF: 1= Disease, ND: NAMDC terms.
Most Studied CPEO, Complex I Deficiency, COXPD1, Leigh, LHON, MELAS, MERRF, Myopathy, SANDO

Disease Browser
Parent Node: Corneal Dystrophies, Hereditary (D003317)
..Starting node ..Corneal Dystrophy, Fleck (C563256)
Child Nodes:
Sister Nodes:
..Bietti Crystalline Dystrophy (C535440)
..Brachymesomelia renal syndrome (C537096)
..Chorioretinal atrophy, progressive bifocal (C535356)
..Congenital Corneal Opacities, Cornea Guttata, and Corectopia (C563921)
..Corneal cerebellar syndrome (C535472)
..Corneal Degeneration, Ribbonlike, with Deafness (C565157)
..Corneal dystrophy and perceptive deafness (C535473)
..Corneal dystrophy Avellino type (C535474)
..Corneal dystrophy of Bowman layer, type 1 (C535476)
..Corneal Dystrophy, Band-Shaped (C562399)
..Corneal Dystrophy, Central Type (C563262)
..Corneal Dystrophy, Congenital Stromal (C566452)
..Corneal Dystrophy, Crystalline, of Schnyder (C535475)
..Corneal Dystrophy, Endothelial, X-Linked (C567587)
..Corneal Dystrophy, Fleck (C563256)
..Corneal dystrophy, gelatinous drop-like (C535480)
..Corneal Dystrophy, Juvenile Epithelial of Meesmann (D053559)
..Corneal Dystrophy, Lattice Type IIIA (C563923)
..Corneal Dystrophy, Lisch Epithelial (C567588)
..Corneal Dystrophy, Posterior Amorphous (C567546)
..Corneal Dystrophy, Posterior Polymorphous, 1 (C562745)
..Corneal Dystrophy, Posterior Polymorphous, 2 (C565176)
..Corneal Dystrophy, Posterior Polymorphous, 3 (C563788)
..Corneal Dystrophy, Subepithelial Mucinous (C567547)
..Corneal dystrophy, Thiel-Behnke type (C535942)
..Corneal Endothelial Dystrophy 1 (C565156)
..Corneal endothelial dystrophy type 2 (C536439)
..Corneodermatoosseous syndrome (C536444)
..Dermochondrocorneal dystrophy of Fran莽ois (C535375)
..EDICT SYNDROME (OMIM:614303)
..Endothelial Dystrophy, Congenital Hereditary, with Nail Hypoplasia (C565591)
..Epithelial Recurrent Erosion Dystrophy (C565155)
..Fuchs' Endothelial Dystrophy (D005642) 10
..Groenouw type I corneal dystrophy (C537304)
..Ichthyosiform erythroderma, corneal involvement, deafness (C537363)
..Judge Misch Wright syndrome (C537692)
..Kuster Majewski Hammerstein syndrome (C538125)
..Lattice corneal dystrophy type 1 (C537881)
..Macular Corneal Dystrophy, Type II (C563270)
..Macular dystrophy, corneal type 1 (C537834)
..Macular Dystrophy, Fenestrated Sheen Type (C563607)
..Macular dystrophy, retinal, 1, North Carolina type (C537835)
..Macular Dystrophy, Retinal, 2 (C562746)
..Meretoja syndrome (C537459)
..MICROCORNEA, MYOPIC CHORIORETINAL ATROPHY, AND TELECANTHUS (OMIM:615458)
..Mousa Al din Al Nassar syndrome (C536989)
..O'Donnell Pappas syndrome (C537858)
..Oculodental syndrome Rutherfurd syndrome (C537732)
..Pseudoinflammatory fundus dystrophy, Finnish type (C535828)
..Sammartino De Crecchio Syndrome (C537229)
..Spondyloepiphyseal Dysplasia With Punctate Corneal Dystrophy (C566660)
..Sveinsson 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 :
Genes: PIKFYVE;

Phenotypes

1	HP:0000006	Autosomal dominant inheritance
2	HP:0000613	Photophobia
3	HP:0007962	Speckled corneal dystrophy

Disease Causing ClinVar Variants

Variation_Name	GeneID	GeneSymbol	ClinicalSignificance	dbSNP	RCVaccession	TestedInGTR	PhenotypeIDs	Chromosome	Start	Stop	HGVS_g	OtherIDs	Disease_ClinVar
NM_015040.4(PIKFYVE):c.-166A>T	200576	PIKFYVE	Likely benign	rs530975785	RCV000287642;	N	MONDO:MONDO:0007376,MedGen:C1562113,OMIM:121850, Orphanet:98970	2	209130983	209130983	2:g.209130983A>T	ClinGen:CA10654616	C1562113 121850 Fleck corneal dystrophy;
NM_015040.4(PIKFYVE):c.-160A>G	200576	PIKFYVE	Benign	rs34366347	RCV000344924;	N	MONDO:MONDO:0007376,MedGen:C1562113,OMIM:121850, Orphanet:98970	2	209130989	209130989	2:g.209130989A>G	ClinGen:CA10654617	C1562113 121850 Fleck corneal dystrophy;
NM_015040.4(PIKFYVE):c.-157A>T	200576	PIKFYVE	Uncertain significance	rs886055529	RCV000271310;	N	MONDO:MONDO:0007376,MedGen:C1562113,OMIM:121850, Orphanet:98970	2	209130992	209130992	2:g.209130992A>T	ClinGen:CA10612219	C1562113 121850 Fleck corneal dystrophy;
NM_015040.4(PIKFYVE):c.-153A>T	200576	PIKFYVE	Uncertain significance	rs1037223631	RCV001137412;	N	MONDO:MONDO:0007376,MedGen:C1562113,OMIM:121850, Orphanet:98970	2	209130996	209130996	2:g.209130996A>T	-
NM_015040.4(PIKFYVE):c.-134C>T	200576	PIKFYVE	Benign	rs115543378	RCV001137413;	N	MONDO:MONDO:0007376,MedGen:C1562113,OMIM:121850, Orphanet:98970	2	209131015	209131015	2:g.209131015C>T	-
NM_015040.4(PIKFYVE):c.-10+5G>A	200576	PIKFYVE	Likely benign	rs541362896	RCV000326456;	N	MONDO:MONDO:0007376,MedGen:C1562113,OMIM:121850, Orphanet:98970	2	209131144	209131144	2:g.209131144G>A	ClinGen:CA10612222	C1562113 121850 Fleck corneal dystrophy;
NM_015040.4(PIKFYVE):c.25C>T (p.Pro9Ser)	200576	PIKFYVE	Uncertain significance	rs1689422489	RCV001139647;	N	MONDO:MONDO:0007376,MedGen:C1562113,OMIM:121850, Orphanet:98970	2	209136268	209136268	2:g.209136268C>T	-
NM_015040.4(PIKFYVE):c.37T>C (p.Ser13Pro)	200576	PIKFYVE	Uncertain significance	rs749616889	RCV000362470;	N	MONDO:MONDO:0007376,MedGen:C1562113,OMIM:121850, Orphanet:98970	2	209136280	209136280	NC_000002.11:g.209136280T>C	ClinGen:CA2079157	C1562113 121850 Fleck corneal dystrophy;
NM_015040.4(PIKFYVE):c.64A>C (p.Thr22Pro)	200576	PIKFYVE	Likely benign	rs373802805	RCV000267920;	N	MONDO:MONDO:0007376,MedGen:C1562113,OMIM:121850, Orphanet:98970	2	209136307	209136307	NC_000002.11:g.209136307A>C	ClinGen:CA2079162	C1562113 121850 Fleck corneal dystrophy;
NM_015040.4(PIKFYVE):c.173-11C>T	200576	PIKFYVE	Benign	rs4675744	RCV000323054\|RCV002521370;	N	MONDO:MONDO:0007376,MedGen:C1562113,OMIM:121850, Orphanet:98970\|MedGen:CN517202	2	209138297	209138297	NC_000002.11:g.209138297C>T	ClinGen:CA2079192	C1562113 121850 Fleck corneal dystrophy;
NM_015040.4(PIKFYVE):c.235C>A (p.Leu79Ile)	200576	PIKFYVE	Uncertain significance	rs1689715018	RCV001139648;	N	MONDO:MONDO:0007376,MedGen:C1562113,OMIM:121850, Orphanet:98970	2	209138370	209138370	2:g.209138370C>A	-
NM_015040.4(PIKFYVE):c.279A>G (p.Lys93=)	200576	PIKFYVE	Benign	rs36031854	RCV000377720\|RCV000948617;	N	MONDO:MONDO:0007376,MedGen:C1562113,OMIM:121850, Orphanet:98970\|MedGen:CN517202	2	209138414	209138414	NC_000002.11:g.209138414A>G	ClinGen:CA2079209	C1562113 121850 Fleck corneal dystrophy;
NM_015040.4(PIKFYVE):c.307C>T (p.Arg103Cys)	200576	PIKFYVE	Uncertain significance	rs778101021	RCV000284516;	N	MONDO:MONDO:0007376,MedGen:C1562113,OMIM:121850, Orphanet:98970	2	209138442	209138442	NC_000002.11:g.209138442C>T	ClinGen:CA2079215	C1562113 121850 Fleck corneal dystrophy;
NM_015040.4(PIKFYVE):c.308G>A (p.Arg103His)	200576	PIKFYVE	Uncertain significance	rs891262232	RCV001140400;	N	MONDO:MONDO:0007376,MedGen:C1562113,OMIM:121850, Orphanet:98970	2	209138443	209138443	2:g.209138443G>A	-
NM_015040.4(PIKFYVE):c.904C>T (p.Arg302Ter)	200576	PIKFYVE	Likely pathogenic	rs1195336213	RCV002308500;	N	MONDO:MONDO:0007376,MedGen:C1562113,OMIM:121850, Orphanet:98970	2	209153535	209153535	209153535	-
NM_015040.4(PIKFYVE):c.935C>G (p.Ser312Ter)	200576	PIKFYVE	Likely pathogenic	-1	RCV001782632;	N	MONDO:MONDO:0007376,MedGen:C1562113,OMIM:121850, Orphanet:98970	2	209163388	209163388	209163388	-
NM_015040.4(PIKFYVE):c.1051-10G>T	200576	PIKFYVE	Benign	rs769292195	RCV000318474;	N	MONDO:MONDO:0007376,MedGen:C1562113,OMIM:121850, Orphanet:98970	2	209165651	209165651	NC_000002.11:g.209165651G>T	ClinGen:CA2079451	C1562113 121850 Fleck corneal dystrophy;
NM_015040.4(PIKFYVE):c.1140G>A (p.Thr380=)	200576	PIKFYVE	Uncertain significance	rs750959225	RCV001140401;	N	MONDO:MONDO:0007376,MedGen:C1562113,OMIM:121850, Orphanet:98970	2	209165750	209165750	2:g.209165750G>A	-
NM_015040.4(PIKFYVE):c.1206A>G (p.Thr402=)	200576	PIKFYVE	Likely benign	rs745795722	RCV000952504\|RCV001140402;	N	MedGen:CN517202\|MONDO:MONDO:0007376,MedGen:C1562113,OMIM:121850, Orphanet:98970	2	209165816	209165816	2:g.209165816A>G	-
NM_015040.4(PIKFYVE):c.1320+4C>T	200576	PIKFYVE	Uncertain significance	rs1693797581	RCV001140403;	N	MONDO:MONDO:0007376,MedGen:C1562113,OMIM:121850, Orphanet:98970	2	209167081	209167081	2:g.209167081C>T	-
NM_015040.4(PIKFYVE):c.1321-42C>T	200576	PIKFYVE	Benign	-1	RCV001788917;	N	MONDO:MONDO:0007376,MedGen:C1562113,OMIM:121850, Orphanet:98970	2	209168853	209168853	209168853	-
NM_015040.4(PIKFYVE):c.1468+15C>T	200576	PIKFYVE	Likely benign	rs781345811	RCV001140404;	N	MONDO:MONDO:0007376,MedGen:C1562113,OMIM:121850, Orphanet:98970	2	209169057	209169057	2:g.209169057C>T	-
NM_015040.4(PIKFYVE):c.1522G>C (p.Asp508His)	200576	PIKFYVE	Uncertain significance	rs886055530	RCV000375394;	N	MONDO:MONDO:0007376,MedGen:C1562113,OMIM:121850, Orphanet:98970	2	209169623	209169623	NC_000002.11:g.209169623G>C	ClinGen:CA10612227	C1562113 121850 Fleck corneal dystrophy;
NM_015040.4(PIKFYVE):c.1621C>A (p.Pro541Thr)	200576	PIKFYVE	Uncertain significance	rs886055531	RCV000278477;	N	MONDO:MONDO:0007376,MedGen:C1562113,OMIM:121850, Orphanet:98970	2	209169722	209169722	NC_000002.11:g.209169722C>A	ClinGen:CA10612636	C1562113 121850 Fleck corneal dystrophy;
NM_015040.4(PIKFYVE):c.1711C>T (p.Arg571Cys)	200576	PIKFYVE	Uncertain significance	rs771948901	RCV001140405;	N	MONDO:MONDO:0007376,MedGen:C1562113,OMIM:121850, Orphanet:98970	2	209179032	209179032	2:g.209179032C>T	-
NM_015040.4(PIKFYVE):c.1715G>A (p.Arg572Gln)	200576	PIKFYVE	Benign/Likely benign	rs146158348	RCV000335905\|RCV002521371;	N	MONDO:MONDO:0007376,MedGen:C1562113,OMIM:121850, Orphanet:98970\|MedGen:CN517202	2	209179036	209179036	NC_000002.11:g.209179036G>A	ClinGen:CA2079628	C1562113 121850 Fleck corneal dystrophy;
NM_015040.4(PIKFYVE):c.1746C>T (p.Phe582=)	200576	PIKFYVE	Uncertain significance	rs1259685306	RCV001142264;	N	MONDO:MONDO:0007376,MedGen:C1562113,OMIM:121850, Orphanet:98970	2	209179067	209179067	2:g.209179067C>T	-
NM_015040.4(PIKFYVE):c.1770C>T (p.Asn590=)	200576	PIKFYVE	Benign	rs61752185	RCV000405428\|RCV000879056;	N	MONDO:MONDO:0007376,MedGen:C1562113,OMIM:121850, Orphanet:98970\|MedGen:CN517202	2	209179091	209179091	NC_000002.11:g.209179091C>T	ClinGen:CA2079636	C1562113 121850 Fleck corneal dystrophy;
NM_015040.4(PIKFYVE):c.1849A>G (p.Met617Val)	200576	PIKFYVE	Benign	rs16840913	RCV000295958\|RCV002521372;	N	MONDO:MONDO:0007376,MedGen:C1562113,OMIM:121850, Orphanet:98970\|MedGen:CN517202	2	209179939	209179939	NC_000002.11:g.209179939A>G	ClinGen:CA2079668,UniProtKB:Q9Y2I7#VAR_057097	C1562113 121850 Fleck corneal dystrophy;
NM_015040.4(PIKFYVE):c.1928A>G (p.Gln643Arg)	200576	PIKFYVE	Uncertain significance	rs886055532	RCV000348639;	N	MONDO:MONDO:0007376,MedGen:C1562113,OMIM:121850, Orphanet:98970	2	209180018	209180018	NC_000002.11:g.209180018A>G	ClinGen:CA10612639	C1562113 121850 Fleck corneal dystrophy;
NM_015040.4(PIKFYVE):c.1946G>A (p.Arg649Gln)	200576	PIKFYVE	Conflicting interpretations of pathogenicity	rs377372888	RCV000396084\|RCV002521373;	N	MONDO:MONDO:0007376,MedGen:C1562113,OMIM:121850, Orphanet:98970\|MedGen:CN517202	2	209180036	209180036	NC_000002.11:g.209180036G>A	ClinGen:CA2079683	C1562113 121850 Fleck corneal dystrophy;
NM_015040.4(PIKFYVE):c.1954G>A (p.Val652Ile)	200576	PIKFYVE	Benign	rs145916346	RCV001142265;	N	MONDO:MONDO:0007376,MedGen:C1562113,OMIM:121850, Orphanet:98970	2	209180044	209180044	2:g.209180044G>A	-
NM_015040.4(PIKFYVE):c.1983C>A (p.Ile661=)	200576	PIKFYVE	Benign	rs41305979	RCV000308733\|RCV002521374;	N	MONDO:MONDO:0007376,MedGen:C1562113,OMIM:121850, Orphanet:98970\|MedGen:CN517202	2	209180073	209180073	NC_000002.11:g.209180073C>A	ClinGen:CA2079689	C1562113 121850 Fleck corneal dystrophy;
NM_015040.4(PIKFYVE):c.2016T>G (p.Gly672=)	200576	PIKFYVE	Benign	rs148810695	RCV001137527;	N	MONDO:MONDO:0007376,MedGen:C1562113,OMIM:121850, Orphanet:98970	2	209182599	209182599	2:g.209182599T>G	-
NM_015040.4(PIKFYVE):c.2087G>A (p.Ser696Asn)	200576	PIKFYVE	Benign	rs10932258	RCV000365792\|RCV002057640;	N	MONDO:MONDO:0007376,MedGen:C1562113,OMIM:121850, Orphanet:98970\|MedGen:CN517202	2	209184980	209184980	NC_000002.11:g.209184980G>A	ClinGen:CA2079746,UniProtKB:Q9Y2I7#VAR_063406	C1562113 121850 Fleck corneal dystrophy;
NM_015040.4(PIKFYVE):c.2106C>T (p.Pro702=)	200576	PIKFYVE	Benign	rs10932259	RCV000396210\|RCV002057641;	N	MONDO:MONDO:0007376,MedGen:C1562113,OMIM:121850, Orphanet:98970\|MedGen:CN517202	2	209184999	209184999	NC_000002.11:g.209184999C>T	ClinGen:CA2079750	C1562113 121850 Fleck corneal dystrophy;
NM_015040.4(PIKFYVE):c.2164A>G (p.Thr722Ala)	200576	PIKFYVE	Benign	rs566701537	RCV000307427;	N	MONDO:MONDO:0007376,MedGen:C1562113,OMIM:121850, Orphanet:98970	2	209185057	209185057	NC_000002.11:g.209185057A>G	ClinGen:CA2079755	C1562113 121850 Fleck corneal dystrophy;
NM_015040.4(PIKFYVE):c.2191-15A>T	200576	PIKFYVE	Benign	rs16840942	RCV000360080\|RCV002521375;	N	MONDO:MONDO:0007376,MedGen:C1562113,OMIM:121850, Orphanet:98970\|MedGen:CN517202	2	209188851	209188851	NC_000002.11:g.209188851A>T	ClinGen:CA2079775	C1562113 121850 Fleck corneal dystrophy;
NM_015040.4(PIKFYVE):c.2191-6A>T	200576	PIKFYVE	Benign	rs758552809	RCV001137528;	N	MONDO:MONDO:0007376,MedGen:C1562113,OMIM:121850, Orphanet:98970	2	209188860	209188860	2:g.209188860A>T	-
NM_015040.4(PIKFYVE):c.2331+12T>A	200576	PIKFYVE	Benign	rs188586992	RCV000267739;	N	MONDO:MONDO:0007376,MedGen:C1562113,OMIM:121850, Orphanet:98970	2	209189018	209189018	NC_000002.11:g.209189018T>A	ClinGen:CA2079797	C1562113 121850 Fleck corneal dystrophy;
NM_015040.4(PIKFYVE):c.2344C>T (p.Arg782Ter)	200576	PIKFYVE	Pathogenic	-1	RCV001731226;	N	MONDO:MONDO:0007376,MedGen:C1562113,OMIM:121850, Orphanet:98970	2	209189647	209189647	209189647	-
NM_015040.4(PIKFYVE):c.2458+10C>G	200576	PIKFYVE	Uncertain significance	rs751563395	RCV001139733;	N	MONDO:MONDO:0007376,MedGen:C1562113,OMIM:121850, Orphanet:98970	2	209189771	209189771	2:g.209189771C>G	-
NM_015040.4(PIKFYVE):c.2459-10T>C	200576	PIKFYVE	Likely benign	rs751439088	RCV001139734;	N	MONDO:MONDO:0007376,MedGen:C1562113,OMIM:121850, Orphanet:98970	2	209189984	209189984	2:g.209189984T>C	-
NM_015040.4(PIKFYVE):c.2535T>C (p.Ser845=)	200576	PIKFYVE	Benign	rs138885638	RCV000301705;	N	MONDO:MONDO:0007376,MedGen:C1562113,OMIM:121850, Orphanet:98970	2	209190070	209190070	NC_000002.11:g.209190070T>C	ClinGen:CA2079873	C1562113 121850 Fleck corneal dystrophy;
NM_015040.4(PIKFYVE):c.2549C>T (p.Ala850Val)	200576	PIKFYVE	Conflicting interpretations of pathogenicity	rs144852646	RCV000358860\|RCV002521376;	N	MONDO:MONDO:0007376,MedGen:C1562113,OMIM:121850, Orphanet:98970\|MeSH:D030342,MedGen:C0950123	2	209190084	209190084	NC_000002.11:g.209190084C>T	ClinGen:CA2079874	C1562113 121850 Fleck corneal dystrophy;
NM_015040.4(PIKFYVE):c.2641C>A (p.Pro881Thr)	200576	PIKFYVE	Uncertain significance	rs1338276014	RCV001139735;	N	MONDO:MONDO:0007376,MedGen:C1562113,OMIM:121850, Orphanet:98970	2	209190176	209190176	2:g.209190176C>A	-
NM_015040.4(PIKFYVE):c.2718C>T (p.Tyr906=)	200576	PIKFYVE	Benign	rs61752187	RCV000263665\|RCV000910931;	N	MONDO:MONDO:0007376,MedGen:C1562113,OMIM:121850, Orphanet:98970\|MedGen:CN517202	2	209190253	209190253	NC_000002.11:g.209190253C>T	ClinGen:CA2079906	C1562113 121850 Fleck corneal dystrophy;
NM_015040.4(PIKFYVE):c.2733C>T (p.Ile911=)	200576	PIKFYVE	Uncertain significance	rs755202351	RCV001139736;	N	MONDO:MONDO:0007376,MedGen:C1562113,OMIM:121850, Orphanet:98970	2	209190268	209190268	2:g.209190268C>T	-
NM_015040.4(PIKFYVE):c.2795T>C (p.Leu932Ser)	200576	PIKFYVE	Benign	rs2363468	RCV000316508\|RCV002057642;	N	MONDO:MONDO:0007376,MedGen:C1562113,OMIM:121850, Orphanet:98970\|MedGen:CN517202	2	209190330	209190330	NC_000002.11:g.209190330T>C	ClinGen:CA2079919,UniProtKB:Q9Y2I7#VAR_063407	C1562113 121850 Fleck corneal dystrophy;
NM_015040.4(PIKFYVE):c.2802T>A (p.Ile934=)	200576	PIKFYVE	Benign	rs61752188	RCV000373564;	N	MONDO:MONDO:0007376,MedGen:C1562113,OMIM:121850, Orphanet:98970	2	209190337	209190337	NC_000002.11:g.209190337T>A	ClinGen:CA2079922	C1562113 121850 Fleck corneal dystrophy;
NM_015040.4(PIKFYVE):c.2873A>T (p.His958Leu)	200576	PIKFYVE	Uncertain significance	rs371918240	RCV001140515;	N	MONDO:MONDO:0007376,MedGen:C1562113,OMIM:121850, Orphanet:98970	2	209190408	209190408	2:g.209190408A>T	-
NM_015040.4(PIKFYVE):c.2881A>G (p.Thr961Ala)	200576	PIKFYVE	Benign	rs139991374	RCV001140516;	N	MONDO:MONDO:0007376,MedGen:C1562113,OMIM:121850, Orphanet:98970	2	209190416	209190416	2:g.209190416A>G	-
NM_015040.4(PIKFYVE):c.2892G>A (p.Pro964=)	200576	PIKFYVE	Benign	rs146556775	RCV000276699\|RCV002523102;	N	MONDO:MONDO:0007376,MedGen:C1562113,OMIM:121850, Orphanet:98970\|MedGen:CN517202	2	209190427	209190427	NC_000002.11:g.209190427G>A	ClinGen:CA2079949	C1562113 121850 Fleck corneal dystrophy;
NM_015040.4(PIKFYVE):c.2895G>A (p.Ala965=)	200576	PIKFYVE	Benign	rs149763308	RCV000334153\|RCV000909696;	N	MONDO:MONDO:0007376,MedGen:C1562113,OMIM:121850, Orphanet:98970\|MedGen:CN517202	2	209190430	209190430	NC_000002.11:g.209190430G>A	ClinGen:CA2079951	C1562113 121850 Fleck corneal dystrophy;
NM_015040.4(PIKFYVE):c.2954A>G (p.Asp985Gly)	200576	PIKFYVE	Uncertain significance	rs1346610853	RCV001140517;	N	MONDO:MONDO:0007376,MedGen:C1562113,OMIM:121850, Orphanet:98970	2	209190489	209190489	2:g.209190489A>G	-
NM_015040.4(PIKFYVE):c.2959C>T (p.Gln987Ter)	200576	PIKFYVE	Uncertain significance	rs1559130873	RCV000779298;	N	MONDO:MONDO:0007376,MedGen:C1562113,OMIM:121850, Orphanet:98970	2	209190494	209190494	NC_000002.11:g.209190494C>T	-
NM_015040.4(PIKFYVE):c.2962C>T (p.Gln988Ter)	200576	PIKFYVE	Pathogenic	rs121918337	RCV000001767;	N	MONDO:MONDO:0007376,MedGen:C1562113,OMIM:121850, Orphanet:98970	2	209190497	209190497	2:g.209190497C>T	ClinGen:CA115150,OMIM:609414.0002	C1562113 121850 Fleck corneal dystrophy;
NM_015040.4(PIKFYVE):c.2984A>T (p.Gln995Leu)	200576	PIKFYVE	Benign	rs893254	RCV000386356\|RCV002051842;	N	MONDO:MONDO:0007376,MedGen:C1562113,OMIM:121850, Orphanet:98970\|MedGen:CN517202	2	209190519	209190519	NC_000002.11:g.209190519A>T	ClinGen:CA2079970,UniProtKB:Q9Y2I7#VAR_063408	C1562113 121850 Fleck corneal dystrophy;
NM_015040.4(PIKFYVE):c.2993C>G (p.Thr998Ser)	200576	PIKFYVE	Benign	rs893253	RCV000293929\|RCV002051843;	N	MONDO:MONDO:0007376,MedGen:C1562113,OMIM:121850, Orphanet:98970\|MedGen:CN517202	2	209190528	209190528	NC_000002.11:g.209190528C>G	ClinGen:CA2079972,UniProtKB:Q9Y2I7#VAR_063409	C1562113 121850 Fleck corneal dystrophy;
NM_015040.4(PIKFYVE):c.3097T>G (p.Ser1033Ala)	200576	PIKFYVE	Benign	rs999890	RCV000346500\|RCV002523103;	N	MONDO:MONDO:0007376,MedGen:C1562113,OMIM:121850, Orphanet:98970\|MedGen:CN517202	2	209190632	209190632	NC_000002.11:g.209190632T>G	ClinGen:CA2079986,UniProtKB:Q9Y2I7#VAR_057098	C1562113 121850 Fleck corneal dystrophy;
NM_015040.4(PIKFYVE):c.3114A>G (p.Arg1038=)	200576	PIKFYVE	Benign	rs999891	RCV000385242\|RCV002523104;	N	MONDO:MONDO:0007376,MedGen:C1562113,OMIM:121850, Orphanet:98970\|MedGen:CN517202	2	209190649	209190649	NC_000002.11:g.209190649A>G	ClinGen:CA2079991	C1562113 121850 Fleck corneal dystrophy;
NM_015040.4(PIKFYVE):c.3122A>G (p.Tyr1041Cys)	200576	PIKFYVE	Uncertain significance	rs886055533	RCV000288578;	N	MONDO:MONDO:0007376,MedGen:C1562113,OMIM:121850, Orphanet:98970	2	209190657	209190657	NC_000002.11:g.209190657A>G	ClinGen:CA10613810	C1562113 121850 Fleck corneal dystrophy;
NM_015040.4(PIKFYVE):c.3150dup (p.Asp1051fs)	200576	PIKFYVE	Pathogenic	rs869312464	RCV000209630;	N	MONDO:MONDO:0007376,MedGen:C1562113,OMIM:121850, Orphanet:98970	2	209190681	209190682	2:g.209190681_209190682insA	ClinGen:CA353353,OMIM:609414.0004	C1562113 121850 Fleck corneal dystrophy;
NM_015040.4(PIKFYVE):c.3270C>G (p.Leu1090=)	200576	PIKFYVE	Uncertain significance	rs766037305	RCV000345785;	N	MONDO:MONDO:0007376,MedGen:C1562113,OMIM:121850, Orphanet:98970	2	209190805	209190805	NC_000002.11:g.209190805C>G	ClinGen:CA10614034	C1562113 121850 Fleck corneal dystrophy;
NM_015040.4(PIKFYVE):c.3308A>G (p.Lys1103Arg)	200576	PIKFYVE	Pathogenic	rs121918336	RCV000001766;	N	MONDO:MONDO:0007376,MedGen:C1562113,OMIM:121850, Orphanet:98970	2	209190843	209190843	2:g.209190843A>G	ClinGen:CA115149,UniProtKB:Q9Y2I7#VAR_025309,OMIM:609414.0001	C1562113 121850 Fleck corneal dystrophy;
NM_015040.4(PIKFYVE):c.3354A>G (p.Gly1118=)	200576	PIKFYVE	Benign	rs149005796	RCV000404992;	N	MONDO:MONDO:0007376,MedGen:C1562113,OMIM:121850, Orphanet:98970	2	209190889	209190889	NC_000002.11:g.209190889A>G	ClinGen:CA2080025	C1562113 121850 Fleck corneal dystrophy;
NM_015040.4(PIKFYVE):c.3459C>T (p.Ala1153=)	200576	PIKFYVE	Benign	rs147976705	RCV001137609;	N	MONDO:MONDO:0007376,MedGen:C1562113,OMIM:121850, Orphanet:98970	2	209190994	209190994	2:g.209190994C>T	-
NM_015040.4(PIKFYVE):c.3500C>G (p.Ser1167Ter)	200576	PIKFYVE	Likely pathogenic	rs780579562	RCV000490347;	N	MONDO:MONDO:0007376,MedGen:C1562113,OMIM:121850, Orphanet:98970	2	209191035	209191035	2:g.209191035C>G	ClinGen:CA2080046	C1562113 121850 Fleck corneal dystrophy;
NM_015040.4(PIKFYVE):c.3511G>A (p.Ala1171Thr)	200576	PIKFYVE	Uncertain significance	rs748235174	RCV000306008;	N	MONDO:MONDO:0007376,MedGen:C1562113,OMIM:121850, Orphanet:98970	2	209191046	209191046	NC_000002.11:g.209191046G>A	ClinGen:CA2080050	C1562113 121850 Fleck corneal dystrophy;
NM_015040.4(PIKFYVE):c.3547C>A (p.Gln1183Lys)	200576	PIKFYVE	Benign	rs1529979	RCV000339815\|RCV002057643;	N	MONDO:MONDO:0007376,MedGen:C1562113,OMIM:121850, Orphanet:98970\|MedGen:CN517202	2	209191082	209191082	NC_000002.11:g.209191082C>A	ClinGen:CA2080059,UniProtKB:Q9Y2I7#VAR_063410	C1562113 121850 Fleck corneal dystrophy;
NM_015040.4(PIKFYVE):c.3564T>C (p.Asn1188=)	200576	PIKFYVE	Benign	rs1529978	RCV000395304\|RCV002057644;	N	MONDO:MONDO:0007376,MedGen:C1562113,OMIM:121850, Orphanet:98970\|MedGen:CN517202	2	209191099	209191099	NC_000002.11:g.209191099T>C	ClinGen:CA2080062	C1562113 121850 Fleck corneal dystrophy;
NM_015040.4(PIKFYVE):c.3719+14C>A	200576	PIKFYVE	Benign	rs765598840	RCV001137610;	N	MONDO:MONDO:0007376,MedGen:C1562113,OMIM:121850, Orphanet:98970	2	209193018	209193018	2:g.209193018C>A	-
NM_015040.4(PIKFYVE):c.3804G>C (p.Gln1268His)	200576	PIKFYVE	Likely benign	rs767989671	RCV001137611;	N	MONDO:MONDO:0007376,MedGen:C1562113,OMIM:121850, Orphanet:98970	2	209195259	209195259	2:g.209195259G>C	-
NM_015040.4(PIKFYVE):c.4156C>T (p.Arg1386Trp)	200576	PIKFYVE	Benign	rs188498825	RCV001137612;	N	MONDO:MONDO:0007376,MedGen:C1562113,OMIM:121850, Orphanet:98970	2	209200043	209200043	2:g.209200043C>T	-
NM_015040.4(PIKFYVE):c.4167_4170del (p.Glu1389fs)	200576	PIKFYVE	Pathogenic	rs387907335	RCV000034837;	N	MONDO:MONDO:0007376,MedGen:C1562113,OMIM:121850, Orphanet:98970	2	209200054	209200057	2:g.209200053_209200056del	ClinGen:CA130917,OMIM:609414.0003	C1562113 121850 Fleck corneal dystrophy;
NM_015040.4(PIKFYVE):c.4215A>G (p.Leu1405=)	200576	PIKFYVE	Benign	rs35944808	RCV000300186\|RCV000966145;	N	MONDO:MONDO:0007376,MedGen:C1562113,OMIM:121850, Orphanet:98970\|MedGen:CN517202	2	209200102	209200102	NC_000002.11:g.209200102A>G	ClinGen:CA2080250	C1562113 121850 Fleck corneal dystrophy;
NM_015040.4(PIKFYVE):c.4436C>G (p.Thr1479Ser)	200576	PIKFYVE	Benign	rs144573813	RCV000356539;	N	MONDO:MONDO:0007376,MedGen:C1562113,OMIM:121850, Orphanet:98970	2	209200840	209200840	NC_000002.11:g.209200840C>G	ClinGen:CA2080319	C1562113 121850 Fleck corneal dystrophy;
NM_015040.4(PIKFYVE):c.4455G>A (p.Ser1485=)	200576	PIKFYVE	Benign	rs145498570	RCV000259284\|RCV000916339;	N	MONDO:MONDO:0007376,MedGen:C1562113,OMIM:121850, Orphanet:98970\|MedGen:CN517202	2	209200859	209200859	NC_000002.11:g.209200859G>A	ClinGen:CA2080323	C1562113 121850 Fleck corneal dystrophy;
NM_015040.4(PIKFYVE):c.4511G>A (p.Trp1504Ter)	200576	PIKFYVE	Pathogenic	-1	RCV001731227;	N	MONDO:MONDO:0007376,MedGen:C1562113,OMIM:121850, Orphanet:98970	2	209200915	209200915	209200915	-
NM_015040.4(PIKFYVE):c.4559G>T (p.Arg1520Ile)	200576	PIKFYVE	Uncertain significance	rs1698191316	RCV001139837;	N	MONDO:MONDO:0007376,MedGen:C1562113,OMIM:121850, Orphanet:98970	2	209201600	209201600	2:g.209201600G>T	-
NM_015040.4(PIKFYVE):c.4567G>A (p.Val1523Ile)	200576	PIKFYVE	Uncertain significance	rs368783060	RCV001139838;	N	MONDO:MONDO:0007376,MedGen:C1562113,OMIM:121850, Orphanet:98970	2	209201608	209201608	2:g.209201608G>A	-
NM_015040.4(PIKFYVE):c.4585A>C (p.Arg1529=)	200576	PIKFYVE	Benign	rs199542979	RCV001139839;	N	MONDO:MONDO:0007376,MedGen:C1562113,OMIM:121850, Orphanet:98970	2	209201626	209201626	2:g.209201626A>C	-
NM_015040.4(PIKFYVE):c.4607G>A (p.Ser1536Asn)	200576	PIKFYVE	Uncertain significance	rs1698195187	RCV001139840;	N	MONDO:MONDO:0007376,MedGen:C1562113,OMIM:121850, Orphanet:98970	2	209201648	209201648	2:g.209201648G>A	-
NM_015040.4(PIKFYVE):c.4629A>G (p.Ala1543=)	200576	PIKFYVE	Benign	rs61752190	RCV000298050\|RCV000951242;	N	MONDO:MONDO:0007376,MedGen:C1562113,OMIM:121850, Orphanet:98970\|MedGen:CN517202	2	209203249	209203249	NC_000002.11:g.209203249A>G	ClinGen:CA2080373	C1562113 121850 Fleck corneal dystrophy;
NM_015040.4(PIKFYVE):c.4640A>G (p.Asn1547Ser)	200576	PIKFYVE	Uncertain significance	rs1698393358	RCV001140622;	N	MONDO:MONDO:0007376,MedGen:C1562113,OMIM:121850, Orphanet:98970	2	209203260	209203260	2:g.209203260A>G	-
NM_015040.4(PIKFYVE):c.4731A>G (p.Gln1577=)	200576	PIKFYVE	Benign	rs35066043	RCV000369116\|RCV000948618;	N	MONDO:MONDO:0007376,MedGen:C1562113,OMIM:121850, Orphanet:98970\|MedGen:CN517202	2	209204200	209204200	NC_000002.11:g.209204200A>G	ClinGen:CA2080423	C1562113 121850 Fleck corneal dystrophy;
NM_015040.4(PIKFYVE):c.4774G>A (p.Gly1592Arg)	200576	PIKFYVE	Benign	rs148994064	RCV000277100\|RCV000950645;	N	MONDO:MONDO:0007376,MedGen:C1562113,OMIM:121850, Orphanet:98970\|MedGen:CN517202	2	209204243	209204243	NC_000002.11:g.209204243G>A	ClinGen:CA2080434	C1562113 121850 Fleck corneal dystrophy;
NM_015040.4(PIKFYVE):c.4811-9T>C	200576	PIKFYVE	Benign	rs148173811	RCV001140623;	N	MONDO:MONDO:0007376,MedGen:C1562113,OMIM:121850, Orphanet:98970	2	209204726	209204726	2:g.209204726T>C	-
NM_015040.4(PIKFYVE):c.4814T>G (p.Val1605Gly)	200576	PIKFYVE	Benign	rs61752191	RCV000329856\|RCV002521377;	N	MONDO:MONDO:0007376,MedGen:C1562113,OMIM:121850, Orphanet:98970\|MedGen:CN517202	2	209204738	209204738	NC_000002.11:g.209204738T>G	ClinGen:CA2080466	C1562113 121850 Fleck corneal dystrophy;
NM_015040.4(PIKFYVE):c.4932-13A>C	200576	PIKFYVE	Benign	rs186801100	RCV001140624;	N	MONDO:MONDO:0007376,MedGen:C1562113,OMIM:121850, Orphanet:98970	2	209207265	209207265	2:g.209207265A>C	-
NM_015040.4(PIKFYVE):c.4958A>G (p.Tyr1653Cys)	200576	PIKFYVE	Uncertain significance	rs886055534	RCV000386604;	N	MONDO:MONDO:0007376,MedGen:C1562113,OMIM:121850, Orphanet:98970	2	209207304	209207304	NC_000002.11:g.209207304A>G	ClinGen:CA10614052	C1562113 121850 Fleck corneal dystrophy;
NM_015040.4(PIKFYVE):c.4989C>T (p.Cys1663=)	200576	PIKFYVE	Benign	rs35784095	RCV000271233\|RCV002521378;	N	MONDO:MONDO:0007376,MedGen:C1562113,OMIM:121850, Orphanet:98970\|MedGen:CN517202	2	209207335	209207335	NC_000002.11:g.209207335C>T	ClinGen:CA2080490	C1562113 121850 Fleck corneal dystrophy;
NM_015040.4(PIKFYVE):c.5028-8G>A	200576	PIKFYVE	Benign	rs2304544	RCV000328743\|RCV002057645;	N	MONDO:MONDO:0007376,MedGen:C1562113,OMIM:121850, Orphanet:98970\|MedGen:CN517202	2	209209827	209209827	NC_000002.11:g.209209827G>A	ClinGen:CA2080513	C1562113 121850 Fleck corneal dystrophy;
NM_015040.4(PIKFYVE):c.5088C>T (p.Ala1696=)	200576	PIKFYVE	Uncertain significance	rs753209769	RCV001142483;	N	MONDO:MONDO:0007376,MedGen:C1562113,OMIM:121850, Orphanet:98970	2	209209895	209209895	2:g.209209895C>T	-
NM_015040.4(PIKFYVE):c.5137A>G (p.Ser1713Gly)	200576	PIKFYVE	Likely benign	rs376604887	RCV001142484;	N	MONDO:MONDO:0007376,MedGen:C1562113,OMIM:121850, Orphanet:98970	2	209210799	209210799	2:g.209210799A>G	-
NM_015040.4(PIKFYVE):c.5296C>T (p.Arg1766Cys)	200576	PIKFYVE	Uncertain significance	rs776997681	RCV001142485;	N	MONDO:MONDO:0007376,MedGen:C1562113,OMIM:121850, Orphanet:98970	2	209212669	209212669	2:g.209212669C>T	-
NM_015040.4(PIKFYVE):c.5322G>C (p.Gln1774His)	200576	PIKFYVE	Conflicting interpretations of pathogenicity	rs146673873	RCV000380983\|RCV002521379;	N	MONDO:MONDO:0007376,MedGen:C1562113,OMIM:121850, Orphanet:98970\|MeSH:D030342,MedGen:C0950123	2	209212695	209212695	NC_000002.11:g.209212695G>C	ClinGen:CA2080595	C1562113 121850 Fleck corneal dystrophy;
NM_015040.4(PIKFYVE):c.5334G>A (p.Thr1778=)	200576	PIKFYVE	Benign	rs2304545	RCV000288994\|RCV002057646;	N	MONDO:MONDO:0007376,MedGen:C1562113,OMIM:121850, Orphanet:98970\|MedGen:CN517202	2	209212707	209212707	NC_000002.11:g.209212707G>A	ClinGen:CA2080597	C1562113 121850 Fleck corneal dystrophy;
NM_015040.4(PIKFYVE):c.5343G>A (p.Glu1781=)	200576	PIKFYVE	Benign	rs140774753	RCV000341665;	N	MONDO:MONDO:0007376,MedGen:C1562113,OMIM:121850, Orphanet:98970	2	209212716	209212716	NC_000002.11:g.209212716G>A	ClinGen:CA2080598	C1562113 121850 Fleck corneal dystrophy;
NM_015040.4(PIKFYVE):c.5397A>G (p.Thr1799=)	200576	PIKFYVE	Benign	rs2118297	RCV000379957\|RCV002057647;	N	MONDO:MONDO:0007376,MedGen:C1562113,OMIM:121850, Orphanet:98970\|MedGen:CN517202	2	209214770	209214770	NC_000002.11:g.209214770A>G	ClinGen:CA2080624	C1562113 121850 Fleck corneal dystrophy;
NM_015040.4(PIKFYVE):c.5434+12A>T	200576	PIKFYVE	Benign	rs182134444	RCV001137732;	N	MONDO:MONDO:0007376,MedGen:C1562113,OMIM:121850, Orphanet:98970	2	209214819	209214819	2:g.209214819A>T	-
NM_015040.4(PIKFYVE):c.5435-47A>G	200576	PIKFYVE	Benign	-1	RCV001788919;	N	MONDO:MONDO:0007376,MedGen:C1562113,OMIM:121850, Orphanet:98970	2	209215448	209215448	209215448	-
NM_015040.4(PIKFYVE):c.5511T>C (p.Ile1837=)	200576	PIKFYVE	Benign	rs13020468	RCV000283380\|RCV002523105;	N	MONDO:MONDO:0007376,MedGen:C1562113,OMIM:121850, Orphanet:98970\|MedGen:CN517202	2	209215571	209215571	NC_000002.11:g.209215571T>C	ClinGen:CA2080665	C1562113 121850 Fleck corneal dystrophy;
NM_015040.4(PIKFYVE):c.5526A>G (p.Glu1842=)	200576	PIKFYVE	Benign	rs994697	RCV000340728\|RCV001594967;	N	MONDO:MONDO:0007376,MedGen:C1562113,OMIM:121850, Orphanet:98970\|MedGen:CN517202	2	209215586	209215586	NC_000002.11:g.209215586A>G	ClinGen:CA2080666	C1562113 121850 Fleck corneal dystrophy;
NM_015040.4(PIKFYVE):c.5573G>A (p.Arg1858Gln)	200576	PIKFYVE	Benign	rs2289170	RCV000402868;	N	MONDO:MONDO:0007376,MedGen:C1562113,OMIM:121850, Orphanet:98970	2	209215633	209215633	NC_000002.11:g.209215633G>A	ClinGen:CA2080674,UniProtKB:Q9Y2I7#VAR_057099	C1562113 121850 Fleck corneal dystrophy;
NM_015040.4(PIKFYVE):c.5594C>T (p.Ala1865Val)	200576	PIKFYVE	Benign	rs137922460	RCV000297361;	N	MONDO:MONDO:0007376,MedGen:C1562113,OMIM:121850, Orphanet:98970	2	209215654	209215654	NC_000002.11:g.209215654C>T	ClinGen:CA2080676	C1562113 121850 Fleck corneal dystrophy;
NM_015040.4(PIKFYVE):c.5716-11C>A	200576	PIKFYVE	Uncertain significance	rs886055535	RCV000336019;	N	MONDO:MONDO:0007376,MedGen:C1562113,OMIM:121850, Orphanet:98970	2	209217367	209217367	NC_000002.11:g.209217367C>A	ClinGen:CA10614094	C1562113 121850 Fleck corneal dystrophy;
NM_015040.4(PIKFYVE):c.5716-4T>C	200576	PIKFYVE	Uncertain significance	rs1214631493	RCV001139965;	N	MONDO:MONDO:0007376,MedGen:C1562113,OMIM:121850, Orphanet:98970	2	209217374	209217374	2:g.209217374T>C	-
NM_015040.4(PIKFYVE):c.5727G>A (p.Ala1909=)	200576	PIKFYVE	Likely benign	rs147789704	RCV000397687;	N	MONDO:MONDO:0007376,MedGen:C1562113,OMIM:121850, Orphanet:98970	2	209217389	209217389	NC_000002.11:g.209217389G>A	ClinGen:CA2080729	C1562113 121850 Fleck corneal dystrophy;
NM_015040.4(PIKFYVE):c.5727G>T (p.Ala1909=)	200576	PIKFYVE	Benign	rs147789704	RCV000314967\|RCV000903892;	N	MONDO:MONDO:0007376,MedGen:C1562113,OMIM:121850, Orphanet:98970\|MedGen:CN517202	2	209217389	209217389	NC_000002.11:g.209217389G>T	ClinGen:CA2080728	C1562113 121850 Fleck corneal dystrophy;
NM_015040.4(PIKFYVE):c.6060G>A (p.Leu2020=)	200576	PIKFYVE	Benign	rs146239645	RCV001139966\|RCV002559351;	N	MONDO:MONDO:0007376,MedGen:C1562113,OMIM:121850, Orphanet:98970\|MedGen:CN517202	2	209218837	209218837	2:g.209218837G>A	-
NM_015040.4(PIKFYVE):c.6165A>C (p.Gly2055=)	200576	PIKFYVE	Uncertain significance	rs748688653	RCV001139967;	N	MONDO:MONDO:0007376,MedGen:C1562113,OMIM:121850, Orphanet:98970	2	209219353	209219353	2:g.209219353A>C	-
NM_015040.4(PIKFYVE):c.6243C>T (p.Asp2081=)	200576	PIKFYVE	Likely benign	rs746132026	RCV001139968;	N	MONDO:MONDO:0007376,MedGen:C1562113,OMIM:121850, Orphanet:98970	2	209219975	209219975	2:g.209219975C>T	-
NM_015040.4(PIKFYVE):c.*78T>C	200576	PIKFYVE	Benign	rs115754381	RCV000367108;	N	MONDO:MONDO:0007376,MedGen:C1562113,OMIM:121850, Orphanet:98970	2	209220107	209220107	NC_000002.11:g.209220107T>C	ClinGen:CA10612645	C1562113 121850 Fleck corneal dystrophy;
NM_015040.4(PIKFYVE):c.*128G>T	200576	PIKFYVE	Benign	rs10208191	RCV000397699;	N	MONDO:MONDO:0007376,MedGen:C1562113,OMIM:121850, Orphanet:98970	2	209220157	209220157	NC_000002.11:g.209220157G>T	ClinGen:CA10613825	C1562113 121850 Fleck corneal dystrophy;
NM_015040.4(PIKFYVE):c.*209G>C	200576	PIKFYVE	Benign	rs10208295	RCV000308950;	N	MONDO:MONDO:0007376,MedGen:C1562113,OMIM:121850, Orphanet:98970	2	209220238	209220238	NC_000002.11:g.209220238G>C	ClinGen:CA10614095	C1562113 121850 Fleck corneal dystrophy;
NM_015040.4(PIKFYVE):c.*210G>A	200576	PIKFYVE	Benign	rs77542967	RCV001140721;	N	MONDO:MONDO:0007376,MedGen:C1562113,OMIM:121850, Orphanet:98970	2	209220239	209220239	2:g.209220239G>A	-
NM_015040.4(PIKFYVE):c.*240C>T	200576	PIKFYVE	Uncertain significance	rs567925149	RCV000365972;	N	MONDO:MONDO:0007376,MedGen:C1562113,OMIM:121850, Orphanet:98970	2	209220269	209220269	NC_000002.11:g.209220269C>T	ClinGen:CA10612257	C1562113 121850 Fleck corneal dystrophy;
NM_015040.4(PIKFYVE):c.*492T>A	200576	PIKFYVE	Uncertain significance	rs1454811692	RCV001140722;	N	MONDO:MONDO:0007376,MedGen:C1562113,OMIM:121850, Orphanet:98970	2	209220521	209220521	2:g.209220521T>A	-
NM_015040.4(PIKFYVE):c.*518C>A	200576	PIKFYVE	Uncertain significance	rs148739344	RCV000268778;	N	MONDO:MONDO:0007376,MedGen:C1562113,OMIM:121850, Orphanet:98970	2	209220547	209220547	NC_000002.11:g.209220547C>A	ClinGen:CA10612647	C1562113 121850 Fleck corneal dystrophy;
NM_015040.4(PIKFYVE):c.*518C>T	200576	PIKFYVE	Uncertain significance	rs148739344	RCV001142589;	N	MONDO:MONDO:0007376,MedGen:C1562113,OMIM:121850, Orphanet:98970	2	209220547	209220547	2:g.209220547C>T	-
NM_015040.4(PIKFYVE):c.*519G>A	200576	PIKFYVE	Uncertain significance	rs551218307	RCV001142590;	N	MONDO:MONDO:0007376,MedGen:C1562113,OMIM:121850, Orphanet:98970	2	209220548	209220548	2:g.209220548G>A	-
NM_015040.4(PIKFYVE):c.*552T>G	200576	PIKFYVE	Uncertain significance	rs886055536	RCV000326136;	N	MONDO:MONDO:0007376,MedGen:C1562113,OMIM:121850, Orphanet:98970	2	209220581	209220581	NC_000002.11:g.209220581T>G	ClinGen:CA10614096	C1562113 121850 Fleck corneal dystrophy;
NM_015040.4(PIKFYVE):c.*615T>A	200576	PIKFYVE	Uncertain significance	rs182741783	RCV000359835;	N	MONDO:MONDO:0007376,MedGen:C1562113,OMIM:121850, Orphanet:98970	2	209220644	209220644	NC_000002.11:g.209220644T>A	ClinGen:CA10613826	C1562113 121850 Fleck corneal dystrophy;
NM_015040.4(PIKFYVE):c.*720A>G	200576	PIKFYVE	Uncertain significance	rs886055537	RCV000267522;	N	MONDO:MONDO:0007376,MedGen:C1562113,OMIM:121850, Orphanet:98970	2	209220749	209220749	NC_000002.11:g.209220749A>G	ClinGen:CA10613827	C1562113 121850 Fleck corneal dystrophy;
NM_015040.4(PIKFYVE):c.*729T>C	200576	PIKFYVE	Uncertain significance	rs144852130	RCV000320473;	N	MONDO:MONDO:0007376,MedGen:C1562113,OMIM:121850, Orphanet:98970	2	209220758	209220758	NC_000002.11:g.209220758T>C	ClinGen:CA10612648	C1562113 121850 Fleck corneal dystrophy;
NM_015040.4(PIKFYVE):c.*772dup	200576	PIKFYVE	Uncertain significance	rs886055538	RCV000377464;	N	MONDO:MONDO:0007376,MedGen:C1562113,OMIM:121850, Orphanet:98970	2	209220795	209220796	2:g.209220795_209220796insT	ClinGen:CA10613835	C1562113 121850 Fleck corneal dystrophy;
NM_015040.4(PIKFYVE):c.*777A>G	200576	PIKFYVE	Uncertain significance	rs886055539	RCV000280674;	N	MONDO:MONDO:0007376,MedGen:C1562113,OMIM:121850, Orphanet:98970	2	209220806	209220806	2:g.209220806A>G	ClinGen:CA10613836	C1562113 121850 Fleck corneal dystrophy;
NM_015040.4(PIKFYVE):c.*798A>G	200576	PIKFYVE	Uncertain significance	rs886055540	RCV000319295;	N	MONDO:MONDO:0007376,MedGen:C1562113,OMIM:121850, Orphanet:98970	2	209220827	209220827	2:g.209220827A>G	ClinGen:CA10614097	C1562113 121850 Fleck corneal dystrophy;
NM_015040.4(PIKFYVE):c.*814T>G	200576	PIKFYVE	Uncertain significance	rs1265056669	RCV001137841;	N	MONDO:MONDO:0007376,MedGen:C1562113,OMIM:121850, Orphanet:98970	2	209220843	209220843	2:g.209220843T>G	-
NM_015040.4(PIKFYVE):c.*868T>C	200576	PIKFYVE	Uncertain significance	rs1167656721	RCV001137842;	N	MONDO:MONDO:0007376,MedGen:C1562113,OMIM:121850, Orphanet:98970	2	209220897	209220897	2:g.209220897T>C	-
NM_015040.4(PIKFYVE):c.*968G>T	200576	PIKFYVE	Uncertain significance	rs1700155137	RCV001140085;	N	MONDO:MONDO:0007376,MedGen:C1562113,OMIM:121850, Orphanet:98970	2	209220997	209220997	2:g.209220997G>T	-
NM_015040.4(PIKFYVE):c.*1001G>T	200576	PIKFYVE	Uncertain significance	rs886055541	RCV000372335;	N	MONDO:MONDO:0007376,MedGen:C1562113,OMIM:121850, Orphanet:98970	2	209221030	209221030	2:g.209221030G>T	ClinGen:CA10612258	C1562113 121850 Fleck corneal dystrophy;
NM_015040.4(PIKFYVE):c.*1090A>G	200576	PIKFYVE	Uncertain significance	rs41305981	RCV000280154;	N	MONDO:MONDO:0007376,MedGen:C1562113,OMIM:121850, Orphanet:98970	2	209221119	209221119	2:g.209221119A>G	ClinGen:CA10613847	C1562113 121850 Fleck corneal dystrophy;
NM_015040.4(PIKFYVE):c.*1098A>G	200576	PIKFYVE	Benign	rs147936107	RCV000351498;	N	MONDO:MONDO:0007376,MedGen:C1562113,OMIM:121850, Orphanet:98970	2	209221127	209221127	2:g.209221127A>G	ClinGen:CA10613849	C1562113 121850 Fleck corneal dystrophy;
NM_015040.4(PIKFYVE):c.*1196A>G	200576	PIKFYVE	Uncertain significance	rs886055542	RCV000404250;	N	MONDO:MONDO:0007376,MedGen:C1562113,OMIM:121850, Orphanet:98970	2	209221225	209221225	2:g.209221225A>G	ClinGen:CA10613862	C1562113 121850 Fleck corneal dystrophy;
NM_015040.4(PIKFYVE):c.*1262T>G	200576	PIKFYVE	Benign	rs6725527	RCV000292840;	N	MONDO:MONDO:0007376,MedGen:C1562113,OMIM:121850, Orphanet:98970	2	209221291	209221291	2:g.209221291T>G	ClinGen:CA10612261	C1562113 121850 Fleck corneal dystrophy;
NM_015040.4(PIKFYVE):c.*1358C>T	200576	PIKFYVE	Uncertain significance	rs777999576	RCV001140848;	N	MONDO:MONDO:0007376,MedGen:C1562113,OMIM:121850, Orphanet:98970	2	209221387	209221387	2:g.209221387C>T	-
NM_015040.4(PIKFYVE):c.*1382T>C	200576	PIKFYVE	Uncertain significance	rs892979377	RCV001140849;	N	MONDO:MONDO:0007376,MedGen:C1562113,OMIM:121850, Orphanet:98970	2	209221411	209221411	2:g.209221411T>C	-
NM_015040.4(PIKFYVE):c.*1429G>C	200576	PIKFYVE	Uncertain significance	rs886055543	RCV000350061;	N	MONDO:MONDO:0007376,MedGen:C1562113,OMIM:121850, Orphanet:98970	2	209221458	209221458	2:g.209221458G>C	ClinGen:CA10613864	C1562113 121850 Fleck corneal dystrophy;
NM_015040.4(PIKFYVE):c.*1499T>G	200576	PIKFYVE	Benign	rs41295956	RCV000403431;	N	MONDO:MONDO:0007376,MedGen:C1562113,OMIM:121850, Orphanet:98970	2	209221528	209221528	2:g.209221528T>G	ClinGen:CA10613867	C1562113 121850 Fleck corneal dystrophy;
NM_015040.4(PIKFYVE):c.*1552G>A	200576	PIKFYVE	Uncertain significance	rs1382245964	RCV001140850;	N	MONDO:MONDO:0007376,MedGen:C1562113,OMIM:121850, Orphanet:98970	2	209221581	209221581	2:g.209221581G>A	-
NM_015040.4(PIKFYVE):c.*1621A>G	200576	PIKFYVE	Uncertain significance	rs1046507081	RCV001142696;	N	MONDO:MONDO:0007376,MedGen:C1562113,OMIM:121850, Orphanet:98970	2	209221650	209221650	2:g.209221650A>G	-
NM_015040.4(PIKFYVE):c.*1624A>T	200576	PIKFYVE	Uncertain significance	rs1435627063	RCV001142697;	N	MONDO:MONDO:0007376,MedGen:C1562113,OMIM:121850, Orphanet:98970	2	209221653	209221653	2:g.209221653A>T	-
NM_015040.4(PIKFYVE):c.*1638del	200576	PIKFYVE	Uncertain significance	rs886055544	RCV000310373;	N	MONDO:MONDO:0007376,MedGen:C1562113,OMIM:121850, Orphanet:98970	2	209221666	209221666	2:g.209221666_209221666del	ClinGen:CA10612649	C1562113 121850 Fleck corneal dystrophy;
NM_015040.4(PIKFYVE):c.*1826A>G	200576	PIKFYVE	Uncertain significance	rs886055545	RCV000363214;	N	MONDO:MONDO:0007376,MedGen:C1562113,OMIM:121850, Orphanet:98970	2	209221855	209221855	2:g.209221855A>G	ClinGen:CA10612650	C1562113 121850 Fleck corneal dystrophy;
NM_015040.4(PIKFYVE):c.*1923A>G	200576	PIKFYVE	Benign	rs151104146	RCV000396804;	N	MONDO:MONDO:0007376,MedGen:C1562113,OMIM:121850, Orphanet:98970	2	209221952	209221952	2:g.209221952A>G	ClinGen:CA10613868	C1562113 121850 Fleck corneal dystrophy;
NM_015040.4(PIKFYVE):c.*1938G>C	200576	PIKFYVE	Benign	rs140749141	RCV000305040;	N	MONDO:MONDO:0007376,MedGen:C1562113,OMIM:121850, Orphanet:98970	2	209221967	209221967	2:g.209221967G>C	ClinGen:CA10614099	C1562113 121850 Fleck corneal dystrophy;
NM_015040.4(PIKFYVE):c.1973_1974insA	200576	PIKFYVE	Likely benign	rs199859183	RCV000362053;	N	MONDO:MONDO:0007376,MedGen:C1562113,OMIM:121850, Orphanet:98970	2	209222002	209222003	2:g.209222002_209222003insA	ClinGen:CA10612262	C1562113 121850 Fleck corneal dystrophy;
NM_015040.4(PIKFYVE):c.*1978T>C	200576	PIKFYVE	Benign	rs535013196	RCV000264824;	N	MONDO:MONDO:0007376,MedGen:C1562113,OMIM:121850, Orphanet:98970	2	209222007	209222007	2:g.209222007T>C	ClinGen:CA10612651	C1562113 121850 Fleck corneal dystrophy;
NM_015040.4(PIKFYVE):c.*2027C>T	200576	PIKFYVE	Uncertain significance	rs551912289	RCV000322322;	N	MONDO:MONDO:0007376,MedGen:C1562113,OMIM:121850, Orphanet:98970	2	209222056	209222056	NC_000002.11:g.209222056C>T	ClinGen:CA10612652	C1562113 121850 Fleck corneal dystrophy;
NM_015040.4(PIKFYVE):c.*2030G>C	200576	PIKFYVE	Uncertain significance	rs571740486	RCV001137954;	N	MONDO:MONDO:0007376,MedGen:C1562113,OMIM:121850, Orphanet:98970	2	209222059	209222059	2:g.209222059G>C	-
NM_015040.4(PIKFYVE):c.*2143G>C	200576	PIKFYVE	Benign	rs184529823	RCV000356127;	N	MONDO:MONDO:0007376,MedGen:C1562113,OMIM:121850, Orphanet:98970	2	209222172	209222172	NC_000002.11:g.209222172G>C	ClinGen:CA10612266	C1562113 121850 Fleck corneal dystrophy;
NM_015040.4(PIKFYVE):c.*2173C>T	200576	PIKFYVE	Benign	rs11538998	RCV000263761;	N	MONDO:MONDO:0007376,MedGen:C1562113,OMIM:121850, Orphanet:98970	2	209222202	209222202	NC_000002.11:g.209222202C>T	ClinGen:CA10613880	C1562113 121850 Fleck corneal dystrophy;
NM_015040.4(PIKFYVE):c.*2185C>G	200576	PIKFYVE	Benign	rs59149007	RCV000316914;	N	MONDO:MONDO:0007376,MedGen:C1562113,OMIM:121850, Orphanet:98970	2	209222214	209222214	NC_000002.11:g.209222214C>G	ClinGen:CA10612267	C1562113 121850 Fleck corneal dystrophy;
NM_015040.4(PIKFYVE):c.*2218A>T	200576	PIKFYVE	Uncertain significance	rs886055546	RCV000387705;	N	MONDO:MONDO:0007376,MedGen:C1562113,OMIM:121850, Orphanet:98970	2	209222247	209222247	NC_000002.11:g.209222247A>T	ClinGen:CA10612269	C1562113 121850 Fleck corneal dystrophy;
NM_015040.4(PIKFYVE):c.*2238A>G	200576	PIKFYVE	Uncertain significance	rs1403001936	RCV001137955;	N	MONDO:MONDO:0007376,MedGen:C1562113,OMIM:121850, Orphanet:98970	2	209222267	209222267	2:g.209222267A>G	-
NM_015040.4(PIKFYVE):c.*2247A>G	200576	PIKFYVE	Benign	rs13391849	RCV000295653;	N	MONDO:MONDO:0007376,MedGen:C1562113,OMIM:121850, Orphanet:98970	2	209222276	209222276	NC_000002.11:g.209222276A>G	ClinGen:CA10614100	C1562113 121850 Fleck corneal dystrophy;
NM_015040.4(PIKFYVE):c.*2281del	200576	PIKFYVE	Benign	rs56993638	RCV000329637;	N	MONDO:MONDO:0007376,MedGen:C1562113,OMIM:121850, Orphanet:98970	2	209222310	209222310	NC_000002.11:g.209222310del	ClinGen:CA10612270	C1562113 121850 Fleck corneal dystrophy;
NM_015040.4(PIKFYVE):c.*2495A>G	200576	PIKFYVE	Uncertain significance	rs548954146	RCV000386662;	N	MONDO:MONDO:0007376,MedGen:C1562113,OMIM:121850, Orphanet:98970	2	209222524	209222524	NC_000002.11:g.209222524A>G	ClinGen:CA10614102	C1562113 121850 Fleck corneal dystrophy;
NM_015040.4(PIKFYVE):c.*2520T>A	200576	PIKFYVE	Uncertain significance	rs1296543469	RCV001138369;	N	MONDO:MONDO:0007376,MedGen:C1562113,OMIM:121850, Orphanet:98970	2	209222549	209222549	2:g.209222549T>A	-
NM_015040.4(PIKFYVE):c.*2520T>C	200576	PIKFYVE	Uncertain significance	rs1296543469	RCV001138370;	N	MONDO:MONDO:0007376,MedGen:C1562113,OMIM:121850, Orphanet:98970	2	209222549	209222549	2:g.209222549T>C	-
NM_015040.4(PIKFYVE):c.*2548C>T	200576	PIKFYVE	Uncertain significance	rs755578829	RCV000289913;	N	MONDO:MONDO:0007376,MedGen:C1562113,OMIM:121850, Orphanet:98970	2	209222577	209222577	NC_000002.11:g.209222577C>T	ClinGen:CA10613886	C1562113 121850 Fleck corneal dystrophy;
NM_015040.4(PIKFYVE):c.*2549G>A	200576	PIKFYVE	Benign	rs16841092	RCV000347332;	N	MONDO:MONDO:0007376,MedGen:C1562113,OMIM:121850, Orphanet:98970	2	209222578	209222578	NC_000002.11:g.209222578G>A	ClinGen:CA10612653	C1562113 121850 Fleck corneal dystrophy;
NM_015040.4(PIKFYVE):c.*2693A>G	200576	PIKFYVE	Benign	rs564043919	RCV000405813;	N	MONDO:MONDO:0007376,MedGen:C1562113,OMIM:121850, Orphanet:98970	2	209222722	209222722	NC_000002.11:g.209222722A>G	ClinGen:CA10614111	C1562113 121850 Fleck corneal dystrophy;
NM_015040.4(PIKFYVE):c.*2738A>G	200576	PIKFYVE	Benign	rs553290241	RCV000288887;	N	MONDO:MONDO:0007376,MedGen:C1562113,OMIM:121850, Orphanet:98970	2	209222767	209222767	NC_000002.11:g.209222767A>G	ClinGen:CA10612654	C1562113 121850 Fleck corneal dystrophy;
NM_015040.4(PIKFYVE):c.*2739A>C	200576	PIKFYVE	Uncertain significance	rs1208320222	RCV001138371;	N	MONDO:MONDO:0007376,MedGen:C1562113,OMIM:121850, Orphanet:98970	2	209222768	209222768	2:g.209222768A>C	-
NM_015040.4(PIKFYVE):c.*2763C>T	200576	PIKFYVE	Uncertain significance	rs1700260174	RCV001138372;	N	MONDO:MONDO:0007376,MedGen:C1562113,OMIM:121850, Orphanet:98970	2	209222792	209222792	2:g.209222792C>T	-
NM_015040.4(PIKFYVE):c.*2861C>G	200576	PIKFYVE	Uncertain significance	rs1164636943	RCV001140956;	N	MONDO:MONDO:0007376,MedGen:C1562113,OMIM:121850, Orphanet:98970	2	209222890	209222890	2:g.209222890C>G	-
NM_015040.4(PIKFYVE):c.*3027A>C	200576	PIKFYVE	Uncertain significance	rs573143426	RCV000341608;	N	MONDO:MONDO:0007376,MedGen:C1562113,OMIM:121850, Orphanet:98970	2	209223056	209223056	NC_000002.11:g.209223056A>C	ClinGen:CA10612656	C1562113 121850 Fleck corneal dystrophy;
NM_015040.4(PIKFYVE):c.*3074A>C	200576	PIKFYVE	Uncertain significance	rs749165043	RCV001140957;	N	MONDO:MONDO:0007376,MedGen:C1562113,OMIM:121850, Orphanet:98970	2	209223103	209223103	2:g.209223103A>C	-
NM_015040.4(PIKFYVE):c.3099_3100insGTTTTTTTT	200576	PIKFYVE	Uncertain significance	rs1553538567	RCV000305804;	N	MONDO:MONDO:0007376,MedGen:C1562113,OMIM:121850, Orphanet:98970	2	209223123	209223124	NC_000002.11:g.209223128_209223129insGTTTTTTTT	ClinGen:CA10612271	C1562113 121850 Fleck corneal dystrophy;
NM_015040.4(PIKFYVE):c.3102_3104dup	200576	PIKFYVE	Benign	rs10622340	RCV000405020;	N	MONDO:MONDO:0007376,MedGen:C1562113,OMIM:121850, Orphanet:98970	2	209223123	209223124	NC_000002.11:g.209223131_209223133dup	ClinGen:CA10614113	C1562113 121850 Fleck corneal dystrophy;
NM_015040.4(PIKFYVE):c.3099_3100insGTT	200576	PIKFYVE	Uncertain significance	rs567074655	RCV000341960;	N	MONDO:MONDO:0007376,MedGen:C1562113,OMIM:121850, Orphanet:98970	2	209223126	209223127	NC_000002.11:g.209223128_209223129insGTT	ClinGen:CA10613891	C1562113 121850 Fleck corneal dystrophy;
NM_015040.4(PIKFYVE):c.*3100T>G	200576	PIKFYVE	Benign	rs539067320	RCV001140958;	N	MONDO:MONDO:0007376,MedGen:C1562113,OMIM:121850, Orphanet:98970	2	209223129	209223129	2:g.209223129T>G	-
NM_015040.4(PIKFYVE):c.*3186A>T	200576	PIKFYVE	Uncertain significance	rs753724076	RCV000395415;	N	MONDO:MONDO:0007376,MedGen:C1562113,OMIM:121850, Orphanet:98970	2	209223215	209223215	NC_000002.11:g.209223215A>T	ClinGen:CA10612657	C1562113 121850 Fleck corneal dystrophy;
NM_015040.4(PIKFYVE):c.*3304TGTAT[1]	200576	PIKFYVE	Benign	rs71968755	RCV000297453;	N	MONDO:MONDO:0007376,MedGen:C1562113,OMIM:121850, Orphanet:98970	2	209223333	209223337	NC_000002.11:g.209223333TGTAT[1]	ClinGen:CA10612658	C1562113 121850 Fleck corneal dystrophy;
NM_015040.4(PIKFYVE):c.*3324A>G	200576	PIKFYVE	Benign	rs114476866	RCV000357007;	N	MONDO:MONDO:0007376,MedGen:C1562113,OMIM:121850, Orphanet:98970	2	209223353	209223353	NC_000002.11:g.209223353A>G	ClinGen:CA10612273	C1562113 121850 Fleck corneal dystrophy;
NM_015040.4(PIKFYVE):c.*3329G>T	200576	PIKFYVE	Uncertain significance	rs778853940	RCV000262057;	N	MONDO:MONDO:0007376,MedGen:C1562113,OMIM:121850, Orphanet:98970	2	209223358	209223358	NC_000002.11:g.209223358G>T	ClinGen:CA10612659	C1562113 121850 Fleck corneal dystrophy;

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