Pikfyve Variant Search Result - Rat Genome Database

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383 records found for search term Pikfyve

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RGD ID	Symbol	Variant Type	Name	Trait	Clinical Significance	Chr	Start	Stop	Species	Annotations	Match
11595143	CV285026	single nucleotide variant	NM_015040.4(PIKFYVE):c.*78T>C	Fleck corneal dystrophy [RCV000367108]	benign\|likely benign	2	208355383	208355383	Human	1	name
11646547	CV284270	single nucleotide variant	NM_015040.4(PIKFYVE):c.-157A>T	Fleck corneal dystrophy [RCV000271310]	uncertain significance	2	208266268	208266268	Human	1	name
11595051	CV284345	single nucleotide variant	NM_015040.4(PIKFYVE):c.*240C>T	Fleck corneal dystrophy [RCV000365972]	likely benign\|uncertain significance	2	208355545	208355545	Human	1	name
11577849	CV285028	single nucleotide variant	NM_015040.4(PIKFYVE):c.*518C>A	Fleck corneal dystrophy [RCV000268778]	uncertain significance	2	208355823	208355823	Human	1	name
11590588	CV285032	single nucleotide variant	NM_015040.4(PIKFYVE):c.*729T>C	Fleck corneal dystrophy [RCV000320473]	likely benign\|uncertain significance	2	208356034	208356034	Human	1	name
11597773	CV287029	single nucleotide variant	NM_015040.4(PIKFYVE):c.*128G>T	Fleck corneal dystrophy [RCV000397699]\|not provided [RCV004708487]	benign	2	208355433	208355433	Human	1	name
11594493	CV287030	single nucleotide variant	NM_015040.4(PIKFYVE):c.*615T>A	Fleck corneal dystrophy [RCV000359835]	likely benign\|uncertain significance	2	208355920	208355920	Human	1	name
11645860	CV287032	single nucleotide variant	NM_015040.4(PIKFYVE):c.*720A>G	Fleck corneal dystrophy [RCV000267522]	uncertain significance	2	208356025	208356025	Human	1	name
11661582	CV287040	duplication	NM_015040.4(PIKFYVE):c.*772dup	Fleck corneal dystrophy [RCV000377464]	uncertain significance	2	208356071	208356072	Human	1	name
11648226	CV287041	single nucleotide variant	NM_015040.4(PIKFYVE):c.*777A>G	Fleck corneal dystrophy [RCV000280674]	uncertain significance	2	208356082	208356082	Human	1	name
11589184	CV287467	single nucleotide variant	NM_015040.4(PIKFYVE):c.*209G>C	Fleck corneal dystrophy [RCV000308950]\|not provided [RCV004708488]	benign	2	208355514	208355514	Human	1	name
11655510	CV287468	single nucleotide variant	NM_015040.4(PIKFYVE):c.*552T>G	Fleck corneal dystrophy [RCV000326136]	uncertain significance	2	208355857	208355857	Human	1	name
11654656	CV287469	single nucleotide variant	NM_015040.4(PIKFYVE):c.*798A>G	Fleck corneal dystrophy [RCV000319295]	uncertain significance	2	208356103	208356103	Human	1	name
11665688	CV353555	single nucleotide variant	NM_015040.4(PIKFYVE):c.-166A>T	Fleck corneal dystrophy [RCV000287642]	likely benign	2	208266259	208266259	Human	1	name
11666486	CV353556	single nucleotide variant	NM_015040.4(PIKFYVE):c.-160A>G	Fleck corneal dystrophy [RCV000344924]\|not provided [RCV004709967]	benign	2	208266265	208266265	Human	1	name
28885082	CV883543	single nucleotide variant	NM_015040.4(PIKFYVE):c.-153A>T	Fleck corneal dystrophy [RCV001137412]	uncertain significance	2	208266272	208266272	Human	1	name
28885086	CV883544	single nucleotide variant	NM_015040.4(PIKFYVE):c.-134C>T	Fleck corneal dystrophy [RCV001137413]	benign	2	208266291	208266291	Human	1	name
28895026	CV883572	single nucleotide variant	NM_015040.4(PIKFYVE):c.*210G>A	Fleck corneal dystrophy [RCV001140721]\|not provided [RCV004709031]	benign	2	208355515	208355515	Human	1	name
28895030	CV883573	single nucleotide variant	NM_015040.4(PIKFYVE):c.*492T>A	Fleck corneal dystrophy [RCV001140722]	uncertain significance	2	208355797	208355797	Human	1	name
28900002	CV883574	single nucleotide variant	NM_015040.4(PIKFYVE):c.*518C>T	Fleck corneal dystrophy [RCV001142589]	uncertain significance	2	208355823	208355823	Human	1	name
28900004	CV883575	single nucleotide variant	NM_015040.4(PIKFYVE):c.*519G>A	Fleck corneal dystrophy [RCV001142590]	uncertain significance	2	208355824	208355824	Human	1	name
28886550	CV883576	single nucleotide variant	NM_015040.4(PIKFYVE):c.*814T>G	Fleck corneal dystrophy [RCV001137841]	uncertain significance	2	208356119	208356119	Human	1	name
28886553	CV883577	single nucleotide variant	NM_015040.4(PIKFYVE):c.*868T>C	Fleck corneal dystrophy [RCV001137842]	uncertain significance	2	208356173	208356173	Human	1	name
28893319	CV883578	single nucleotide variant	NM_015040.4(PIKFYVE):c.*968G>T	Fleck corneal dystrophy [RCV001140085]	uncertain significance	2	208356273	208356273	Human	1	name
11580211	CV284273	single nucleotide variant	NM_015040.4(PIKFYVE):c.-10+5G>A	Fleck corneal dystrophy [RCV000326456]	likely benign	2	208266420	208266420	Human	1	name
11661008	CV284346	single nucleotide variant	NM_015040.4(PIKFYVE):c.*1001G>T	Fleck corneal dystrophy [RCV000372335]	uncertain significance	2	208356306	208356306	Human	1	name
11587136	CV284352	single nucleotide variant	NM_015040.4(PIKFYVE):c.*1262T>G	Fleck corneal dystrophy [RCV000292840]\|not provided [RCV004709897]	benign	2	208356567	208356567	Human	1	name
11594135	CV284359	single nucleotide variant	NM_015040.4(PIKFYVE):c.*2143G>C	Fleck corneal dystrophy [RCV000356127]	benign\|likely benign	2	208357448	208357448	Human	1	name
11590222	CV284360	single nucleotide variant	NM_015040.4(PIKFYVE):c.*2185C>G	Fleck corneal dystrophy [RCV000316914]\|not provided [RCV004708491]	benign	2	208357490	208357490	Human	1	name
11662627	CV284364	single nucleotide variant	NM_015040.4(PIKFYVE):c.*2218A>T	Fleck corneal dystrophy [RCV000387705]	uncertain significance	2	208357523	208357523	Human	1	name
11591515	CV284366	deletion	NM_015040.4(PIKFYVE):c.*2281del	Fleck corneal dystrophy [RCV000329637]	benign	2	208357586	208357586	Human	1	name
11594244	CV284369	single nucleotide variant	NM_015040.4(PIKFYVE):c.*3324A>G	Fleck corneal dystrophy [RCV000357007]	benign\|likely benign	2	208358629	208358629	Human	1	name
11653372	CV285036	deletion	NM_015040.4(PIKFYVE):c.*1638del	Fleck corneal dystrophy [RCV000310373]	uncertain significance	2	208356942	208356942	Human	1	name
11660020	CV285038	single nucleotide variant	NM_015040.4(PIKFYVE):c.*1826A>G	Fleck corneal dystrophy [RCV000363214]	uncertain significance	2	208357131	208357131	Human	1	name
11583182	CV285039	single nucleotide variant	NM_015040.4(PIKFYVE):c.*1978T>C	Fleck corneal dystrophy [RCV000264824]\|not provided [RCV004708489]	benign\|likely benign	2	208357283	208357283	Human	1	name
11590785	CV285040	single nucleotide variant	NM_015040.4(PIKFYVE):c.*2027C>T	Fleck corneal dystrophy [RCV000322322]	likely benign\|uncertain significance	2	208357332	208357332	Human	1	name
11593295	CV285042	single nucleotide variant	NM_015040.4(PIKFYVE):c.*2549G>A	Fleck corneal dystrophy [RCV000347332]	benign	2	208357854	208357854	Human	1	name
11586589	CV285043	single nucleotide variant	NM_015040.4(PIKFYVE):c.*2738A>G	Fleck corneal dystrophy [RCV000288887]	benign\|likely benign	2	208358043	208358043	Human	1	name
11580702	CV285046	single nucleotide variant	NM_015040.4(PIKFYVE):c.*3027A>C	Fleck corneal dystrophy [RCV000341608]	uncertain significance	2	208358332	208358332	Human	1	name
11597564	CV285047	single nucleotide variant	NM_015040.4(PIKFYVE):c.*3186A>T	Fleck corneal dystrophy [RCV000395415]	uncertain significance	2	208358491	208358491	Human	1	name
11582744	CV285050	single nucleotide variant	NM_015040.4(PIKFYVE):c.*3329G>T	Fleck corneal dystrophy [RCV000262057]	uncertain significance	2	208358634	208358634	Human	1	name
11585327	CV287053	single nucleotide variant	NM_015040.4(PIKFYVE):c.*1090A>G	Fleck corneal dystrophy [RCV000280154]	likely benign\|uncertain significance	2	208356395	208356395	Human	1	name
11593720	CV287055	single nucleotide variant	NM_015040.4(PIKFYVE):c.*1098A>G	Fleck corneal dystrophy [RCV000351498]	benign\|likely benign	2	208356403	208356403	Human	1	name
11664284	CV287075	single nucleotide variant	NM_015040.4(PIKFYVE):c.*1196A>G	Fleck corneal dystrophy [RCV000404250]	uncertain significance	2	208356501	208356501	Human	1	name
11658588	CV287080	single nucleotide variant	NM_015040.4(PIKFYVE):c.*1429G>C	Fleck corneal dystrophy [RCV000350061]	uncertain significance	2	208356734	208356734	Human	1	name
11598277	CV287083	single nucleotide variant	NM_015040.4(PIKFYVE):c.*1499T>G	Fleck corneal dystrophy [RCV000403431]	benign\|likely benign	2	208356804	208356804	Human	1	name
11597692	CV287084	single nucleotide variant	NM_015040.4(PIKFYVE):c.*1923A>G	Fleck corneal dystrophy [RCV000396804]	benign\|likely benign	2	208357228	208357228	Human	1	name
11583050	CV287101	single nucleotide variant	NM_015040.4(PIKFYVE):c.*2173C>T	Fleck corneal dystrophy [RCV000263761]\|not provided [RCV004708490]	benign	2	208357478	208357478	Human	1	name
11586754	CV287110	single nucleotide variant	NM_015040.4(PIKFYVE):c.*2548C>T	Fleck corneal dystrophy [RCV000289913]	uncertain significance	2	208357853	208357853	Human	1	name
11588740	CV287475	single nucleotide variant	NM_015040.4(PIKFYVE):c.*1938G>C	Fleck corneal dystrophy [RCV000305040]	benign\|likely benign	2	208357243	208357243	Human	1	name
11587526	CV287476	single nucleotide variant	NM_015040.4(PIKFYVE):c.*2247A>G	Fleck corneal dystrophy [RCV000295653]	benign\|likely benign	2	208357552	208357552	Human	1	name
11596835	CV287480	single nucleotide variant	NM_015040.4(PIKFYVE):c.*2495A>G	Fleck corneal dystrophy [RCV000386662]	uncertain significance	2	208357800	208357800	Human	1	name
11598458	CV287490	single nucleotide variant	NM_015040.4(PIKFYVE):c.*2693A>G	Fleck corneal dystrophy [RCV000405813]	benign\|likely benign	2	208357998	208357998	Human	1	name
597889727	CV3856124	single nucleotide variant	NM_015040.4(PIKFYVE):c.322+5A>G	not provided [RCV005200369]	uncertain significance	2	208273738	208273738	Human		name
26918533	CV851392	single nucleotide variant	NM_015040.4(PIKFYVE):c.322+1G>A	not provided [RCV001043885]	likely pathogenic	2	208273734	208273734	Human		name
28895375	CV883579	single nucleotide variant	NM_015040.4(PIKFYVE):c.*1358C>T	Fleck corneal dystrophy [RCV001140848]	uncertain significance	2	208356663	208356663	Human	1	name
28895379	CV883580	single nucleotide variant	NM_015040.4(PIKFYVE):c.*1382T>C	Fleck corneal dystrophy [RCV001140849]	uncertain significance	2	208356687	208356687	Human	1	name
28895382	CV883581	single nucleotide variant	NM_015040.4(PIKFYVE):c.*1552G>A	Fleck corneal dystrophy [RCV001140850]	uncertain significance	2	208356857	208356857	Human	1	name
28900265	CV883582	single nucleotide variant	NM_015040.4(PIKFYVE):c.*1621A>G	Fleck corneal dystrophy [RCV001142696]	uncertain significance	2	208356926	208356926	Human	1	name
28900267	CV883583	single nucleotide variant	NM_015040.4(PIKFYVE):c.*1624A>T	Fleck corneal dystrophy [RCV001142697]	uncertain significance	2	208356929	208356929	Human	1	name
28886931	CV883584	single nucleotide variant	NM_015040.4(PIKFYVE):c.*2030G>C	Fleck corneal dystrophy [RCV001137954]	uncertain significance	2	208357335	208357335	Human	1	name
28886935	CV883585	single nucleotide variant	NM_015040.4(PIKFYVE):c.*2238A>G	Fleck corneal dystrophy [RCV001137955]	uncertain significance	2	208357543	208357543	Human	1	name
28888394	CV883586	single nucleotide variant	NM_015040.4(PIKFYVE):c.*2520T>A	Fleck corneal dystrophy [RCV001138369]	uncertain significance	2	208357825	208357825	Human	1	name
28888397	CV883587	single nucleotide variant	NM_015040.4(PIKFYVE):c.*2520T>C	Fleck corneal dystrophy [RCV001138370]	uncertain significance	2	208357825	208357825	Human	1	name
28888401	CV883588	single nucleotide variant	NM_015040.4(PIKFYVE):c.*2739A>C	Fleck corneal dystrophy [RCV001138371]	uncertain significance	2	208358044	208358044	Human	1	name
28888406	CV883589	single nucleotide variant	NM_015040.4(PIKFYVE):c.*2763C>T	Fleck corneal dystrophy [RCV001138372]	uncertain significance	2	208358068	208358068	Human	1	name
28895651	CV883590	single nucleotide variant	NM_015040.4(PIKFYVE):c.*2861C>G	Fleck corneal dystrophy [RCV001140956]	uncertain significance	2	208358166	208358166	Human	1	name
28895654	CV883591	single nucleotide variant	NM_015040.4(PIKFYVE):c.*3074A>C	Fleck corneal dystrophy [RCV001140957]	uncertain significance	2	208358379	208358379	Human	1	name
28895658	CV883592	single nucleotide variant	NM_015040.4(PIKFYVE):c.*3100T>G	Fleck corneal dystrophy [RCV001140958]	benign	2	208358405	208358405	Human	1	name
150543300	CV1315174	single nucleotide variant	NM_015040.4(PIKFYVE):c.1827-1G>C	Fleck corneal dystrophy [RCV001782631]	likely pathogenic	2	208315192	208315192	Human		name
11580112	CV284996	single nucleotide variant	NM_015040.4(PIKFYVE):c.173-11C>T	Fleck corneal dystrophy [RCV000323054]\|not provided [RCV002521370]	benign	2	208273573	208273573	Human	1	name
11580284	CV285022	single nucleotide variant	NM_015040.4(PIKFYVE):c.5028-8G>A	Fleck corneal dystrophy [RCV000328743]\|not provided [RCV002057645]	benign	2	208345103	208345103	Human	1	name
405069211	CV2875720	single nucleotide variant	NM_015040.4(PIKFYVE):c.5435-4A>G	not provided [RCV003548402]	benign	2	208350767	208350767	Human		name
404989557	CV2998697	single nucleotide variant	NM_015040.4(PIKFYVE):c.2082+6G>A	not provided [RCV003692156]	uncertain significance	2	208317947	208317947	Human		name
402482732	CV3036572	single nucleotide variant	NM_015040.4(PIKFYVE):c.3618+3G>A	not provided [RCV003713012]	uncertain significance	2	208326432	208326432	Human		name
405130581	CV3115023	single nucleotide variant	NM_015040.4(PIKFYVE):c.6106+9A>G	not provided [RCV003815868]	likely benign	2	208354168	208354168	Human		name
405287781	CV3207977	single nucleotide variant	NM_015040.4(PIKFYVE):c.4257-3T>C	PIKFYVE-related disorder [RCV003924551]	likely benign	2	208335790	208335790	Human		name , trait , alternate_id
408393978	CV3526310	deletion	NM_015040.4(PIKFYVE):c.4142+1del	Fleck corneal dystrophy [RCV004771742]	likely pathogenic	2	208333493	208333493	Human	1	name
597848273	CV3792936	single nucleotide variant	NM_015040.4(PIKFYVE):c.4810+1G>A	not provided [RCV005145072]	likely pathogenic	2	208339556	208339556	Human		name
598228062	CV3896088	single nucleotide variant	NM_015040.4(PIKFYVE):c.2331+1G>C	Fleck corneal dystrophy [RCV005362338]	likely pathogenic	2	208324283	208324283	Human	1	name
15138168	CV787258	single nucleotide variant	NM_015040.4(PIKFYVE):c.1051-4G>T	not provided [RCV000982427]	likely benign	2	208300933	208300933	Human		name
26887821	CV850876	single nucleotide variant	NM_015040.4(PIKFYVE):c.5845-2A>T	not provided [RCV001056840]	likely pathogenic	2	208353896	208353896	Human		name
28894164	CV887247	single nucleotide variant	NM_015040.4(PIKFYVE):c.1320+4C>T	Fleck corneal dystrophy [RCV001140403]	uncertain significance	2	208302357	208302357	Human	1	name
28885481	CV887249	single nucleotide variant	NM_015040.4(PIKFYVE):c.2191-6A>T	Fleck corneal dystrophy [RCV001137528]	benign	2	208324136	208324136	Human	1	name
28894767	CV887253	single nucleotide variant	NM_015040.4(PIKFYVE):c.4811-9T>C	Fleck corneal dystrophy [RCV001140623]	benign	2	208340002	208340002	Human	1	name
28892987	CV887256	single nucleotide variant	NM_015040.4(PIKFYVE):c.5716-4T>C	Fleck corneal dystrophy [RCV001139965]	uncertain significance	2	208352650	208352650	Human	1	name
38471230	CV939871	single nucleotide variant	NM_015040.4(PIKFYVE):c.3618+1G>A	not provided [RCV001213728]	likely pathogenic	2	208326430	208326430	Human		name
151233883	CV1317536	single nucleotide variant	NM_015040.4(PIKFYVE):c.1321-42C>T	Fleck corneal dystrophy [RCV001788917]\|not provided [RCV004709164]	benign	2	208304129	208304129	Human	1	name
151233885	CV1317538	single nucleotide variant	NM_015040.4(PIKFYVE):c.5435-47A>G	Fleck corneal dystrophy [RCV001788919]\|not provided [RCV004710355]	benign	2	208350724	208350724	Human	1	name
156372359	CV2017794	single nucleotide variant	NM_015040.4(PIKFYVE):c.4142+10C>A	not provided [RCV002677011]	likely benign	2	208333503	208333503	Human		name
155955152	CV2040081	single nucleotide variant	NM_015040.4(PIKFYVE):c.3963+17A>C	not provided [RCV002775981]	benign	2	208330711	208330711	Human		name
155957378	CV2040227	single nucleotide variant	NM_015040.4(PIKFYVE):c.1637-17G>A	not provided [RCV002776088]	benign	2	208312219	208312219	Human		name
11579968	CV285003	single nucleotide variant	NM_015040.4(PIKFYVE):c.1051-10G>T	Fleck corneal dystrophy [RCV000318474]	benign\|uncertain significance	2	208300927	208300927	Human	1	name
11581197	CV285013	single nucleotide variant	NM_015040.4(PIKFYVE):c.2191-15A>T	Fleck corneal dystrophy [RCV000360080]\|not provided [RCV002521375]	benign	2	208324127	208324127	Human	1	name
11583565	CV287363	single nucleotide variant	NM_015040.4(PIKFYVE):c.2331+12T>A	Fleck corneal dystrophy [RCV000267739]\|not provided [RCV003765931]	benign\|likely benign	2	208324294	208324294	Human	1	name
11656767	CV287461	single nucleotide variant	NM_015040.4(PIKFYVE):c.5716-11C>A	Fleck corneal dystrophy [RCV000336019]	uncertain significance	2	208352643	208352643	Human	1	name
405142278	CV3125890	single nucleotide variant	NM_015040.4(PIKFYVE):c.2332-20A>C	not provided [RCV003816805]	benign	2	208324891	208324891	Human		name
405280550	CV3195561	single nucleotide variant	NM_015040.4(PIKFYVE):c.5844+10T>G	PIKFYVE-related disorder [RCV003906805]	likely benign	2	208352792	208352792	Human		name , trait , alternate_id
597847991	CV3746424	single nucleotide variant	NM_015040.4(PIKFYVE):c.5027+19T>G	not provided [RCV005060242]	benign	2	208342668	208342668	Human		name
28894169	CV887248	single nucleotide variant	NM_015040.4(PIKFYVE):c.1468+15C>T	Fleck corneal dystrophy [RCV001140404]	likely benign	2	208304333	208304333	Human	1	name
28892343	CV887250	single nucleotide variant	NM_015040.4(PIKFYVE):c.2458+10C>G	Fleck corneal dystrophy [RCV001139733]	uncertain significance	2	208325047	208325047	Human	1	name
28892345	CV887251	single nucleotide variant	NM_015040.4(PIKFYVE):c.2459-10T>C	Fleck corneal dystrophy [RCV001139734]\|not provided [RCV004711529]	likely benign	2	208325260	208325260	Human	1	name
28885783	CV887252	single nucleotide variant	NM_015040.4(PIKFYVE):c.3719+14C>A	Fleck corneal dystrophy [RCV001137610]	benign	2	208328294	208328294	Human	1	name
28894770	CV887254	single nucleotide variant	NM_015040.4(PIKFYVE):c.4932-13A>C	Fleck corneal dystrophy [RCV001140624]	benign	2	208342541	208342541	Human	1	name
28886208	CV887255	single nucleotide variant	NM_015040.4(PIKFYVE):c.5434+12A>T	Fleck corneal dystrophy [RCV001137732]	benign	2	208350095	208350095	Human	1	name
11651206	CV285048	microsatellite	NM_015040.4(PIKFYVE):c.*3304TGTAT[1]	Fleck corneal dystrophy [RCV000297453]	benign	2	208358609	208358613	Human		name
11598406	CV287492	duplication	NM_015040.4(PIKFYVE):c.3102_3104dup	Fleck corneal dystrophy [RCV000405020]	benign	2	208358399	208358400	Human	1	name
11594740	CV284354	insertion	NM_015040.4(PIKFYVE):c.1973_1974insA	Fleck corneal dystrophy [RCV000362053]	likely benign	2	208357278	208357279	Human	1	name
156394740	CV2015847	single nucleotide variant	NM_015040.4(PIKFYVE):c.54T>A (p.Pro18=)	not provided [RCV002725431]	likely benign	2	208271573	208271573	Human		name
329399078	CV2471886	single nucleotide variant	NM_015040.4(PIKFYVE):c.20C>T (p.Thr7Met)	Inborn genetic diseases [RCV003220761]	uncertain significance	2	208271539	208271539	Human	1	name
11596026	CV286984	single nucleotide variant	NM_015040.4(PIKFYVE):c.279A>G (p.Lys93=)	Fleck corneal dystrophy [RCV000377720]\|not provided [RCV000948617]	benign	2	208273690	208273690	Human	1	name
11657539	CV287119	insertion	NM_015040.4(PIKFYVE):c.3099_3100insGTT	Fleck corneal dystrophy [RCV000341960]	uncertain significance	2	208358402	208358403	Human	1	name
405067724	CV2875554	deletion	NM_015040.4(PIKFYVE):c.2191-10_2191-6del	not provided [RCV003548342]	benign	2	208324129	208324133	Human		name
28892043	CV883545	single nucleotide variant	NM_015040.4(PIKFYVE):c.25C>T (p.Pro9Ser)	Fleck corneal dystrophy [RCV001139647]	uncertain significance	2	208271544	208271544	Human	1	name
156206058	CV2040123	deletion	NM_015040.4(PIKFYVE):c.2459-20_2459-19del	not provided [RCV002790059]	benign	2	208325249	208325250	Human		name
155900853	CV2043555	deletion	NM_015040.4(PIKFYVE):c.2082+22_2082+34del	not provided [RCV002770960]	benign	2	208317954	208317966	Human		name
401917777	CV2819527	single nucleotide variant	NM_015040.4(PIKFYVE):c.747T>C (p.Ser249=)	not provided [RCV003429520]	likely benign	2	208285859	208285859	Human		name
11581246	CV284274	single nucleotide variant	NM_015040.4(PIKFYVE):c.37T>C (p.Ser13Pro)	Fleck corneal dystrophy [RCV000362470]	uncertain significance	2	208271556	208271556	Human	1	name
11583626	CV286979	single nucleotide variant	NM_015040.4(PIKFYVE):c.64A>C (p.Thr22Pro)	Fleck corneal dystrophy [RCV000267920]\|Inborn genetic diseases [RCV004021791]	likely benign\|uncertain significance	2	208271583	208271583	Human	2	name
597836165	CV3739815	single nucleotide variant	NM_015040.4(PIKFYVE):c.906A>C (p.Arg302=)	not provided [RCV005064035]	likely benign	2	208288813	208288813	Human		name
598272823	CV4006718	single nucleotide variant	NM_015040.4(PIKFYVE):c.68G>T (p.Ser23Ile)	Inborn genetic diseases [RCV005389489]	uncertain significance	2	208271587	208271587	Human	1	name
156126533	CV2005400	single nucleotide variant	NM_015040.4(PIKFYVE):c.242C>T (p.Ser81Leu)	not provided [RCV002663058]	uncertain significance	2	208273653	208273653	Human		name
156034689	CV2246573	single nucleotide variant	NM_015040.4(PIKFYVE):c.292G>A (p.Glu98Lys)	Inborn genetic diseases [RCV002758320]	uncertain significance	2	208273703	208273703	Human	1	name
401917578	CV2819526	single nucleotide variant	NM_015040.4(PIKFYVE):c.178G>A (p.Ala60Thr)	not provided [RCV003429519]	likely benign	2	208273589	208273589	Human		name
401930064	CV2819528	single nucleotide variant	NM_015040.4(PIKFYVE):c.1275C>T (p.His425=)	not provided [RCV003440145]	likely benign	2	208302308	208302308	Human		name
11582277	CV284283	single nucleotide variant	NM_015040.4(PIKFYVE):c.1770C>T (p.Asn590=)	Fleck corneal dystrophy [RCV000405428]\|not provided [RCV000879056]	benign\|likely benign	2	208314367	208314367	Human	1	name
11579639	CV284314	single nucleotide variant	NM_015040.4(PIKFYVE):c.1983C>A (p.Ile661=)	Fleck corneal dystrophy [RCV000308733]\|not provided [RCV002521374]	benign\|likely benign	2	208315349	208315349	Human	1	name
11580463	CV284319	single nucleotide variant	NM_015040.4(PIKFYVE):c.2895G>A (p.Ala965=)	Fleck corneal dystrophy [RCV000334153]\|not provided [RCV000909696]	benign\|likely benign	2	208325706	208325706	Human	1	name
11582059	CV285012	single nucleotide variant	NM_015040.4(PIKFYVE):c.2106C>T (p.Pro702=)	Fleck corneal dystrophy [RCV000396210]\|not provided [RCV002057641]	benign	2	208320275	208320275	Human	1	name
11578223	CV285014	single nucleotide variant	NM_015040.4(PIKFYVE):c.2892G>A (p.Pro964=)	Fleck corneal dystrophy [RCV000276699]\|PIKFYVE-related disorder [RCV003969960]\|not provided [RCV002523102]	benign\|likely benign	2	208325703	208325703	Human	1	name , trait , alternate_id
11588262	CV286994	single nucleotide variant	NM_015040.4(PIKFYVE):c.2535T>C (p.Ser845=)	Fleck corneal dystrophy [RCV000301705]\|PIKFYVE-related disorder [RCV003969959]\|not provided [RCV003546535]	benign\|likely benign	2	208325346	208325346	Human	1	name , trait , alternate_id
11582989	CV287005	single nucleotide variant	NM_015040.4(PIKFYVE):c.2718C>T (p.Tyr906=)	Fleck corneal dystrophy [RCV000263665]\|not provided [RCV000910931]	benign\|likely benign	2	208325529	208325529	Human	1	name
11595700	CV287365	single nucleotide variant	NM_015040.4(PIKFYVE):c.2802T>A (p.Ile934=)	Fleck corneal dystrophy [RCV000373564]\|not provided [RCV004708486]	benign\|likely benign	2	208325613	208325613	Human	1	name
405223977	CV3061489	single nucleotide variant	NM_015040.4(PIKFYVE):c.2958C>T (p.Asp986=)	not provided [RCV003733741]	likely benign	2	208325769	208325769	Human		name
405268587	CV3187078	single nucleotide variant	NM_015040.4(PIKFYVE):c.257T>G (p.Val86Gly)	not provided [RCV003887161]	uncertain significance	2	208273668	208273668	Human		name
405267329	CV3205375	single nucleotide variant	NM_015040.4(PIKFYVE):c.1917A>G (p.Ser639=)	PIKFYVE-related disorder [RCV003947342]	likely benign	2	208315283	208315283	Human		name , trait , alternate_id
405289755	CV3213252	single nucleotide variant	NM_015040.4(PIKFYVE):c.1908C>T (p.Ile636=)	PIKFYVE-related disorder [RCV003961938]	likely benign	2	208315274	208315274	Human		name , trait , alternate_id
597873798	CV3747382	single nucleotide variant	NM_015040.4(PIKFYVE):c.2388C>T (p.Asp796=)	not provided [RCV005069066]	likely benign	2	208324967	208324967	Human		name
598228067	CV3896089	duplication	NM_015040.4(PIKFYVE):c.353dup (p.Gly119fs)	Fleck corneal dystrophy [RCV005362339]	likely pathogenic	2	208276740	208276741	Human	1	name
15183607	CV697274	single nucleotide variant	NM_015040.4(PIKFYVE):c.1206A>G (p.Thr402=)	Fleck corneal dystrophy [RCV001140402]\|PIKFYVE-related disorder [RCV003960638]\|not provided [RCV000952504]	likely benign	2	208301092	208301092	Human	1	name , trait , alternate_id
15193375	CV719544	single nucleotide variant	NM_015040.4(PIKFYVE):c.233A>T (p.Gln78Leu)	not provided [RCV000888929]	benign	2	208273644	208273644	Human		name
15193379	CV719545	single nucleotide variant	NM_015040.4(PIKFYVE):c.2184G>A (p.Val728=)	not provided [RCV000888930]	benign	2	208320353	208320353	Human		name
15108295	CV762802	single nucleotide variant	NM_015040.4(PIKFYVE):c.2796G>A (p.Leu932=)	not provided [RCV000938127]	benign	2	208325607	208325607	Human		name
28892110	CV883546	single nucleotide variant	NM_015040.4(PIKFYVE):c.235C>A (p.Leu79Ile)	Fleck corneal dystrophy [RCV001139648]	uncertain significance	2	208273646	208273646	Human	1	name
28894161	CV883548	single nucleotide variant	NM_015040.4(PIKFYVE):c.1140G>A (p.Thr380=)	Fleck corneal dystrophy [RCV001140401]	uncertain significance	2	208301026	208301026	Human	1	name
28899195	CV883550	single nucleotide variant	NM_015040.4(PIKFYVE):c.1746C>T (p.Phe582=)	Fleck corneal dystrophy [RCV001142264]	uncertain significance	2	208314343	208314343	Human	1	name
28885475	CV883552	single nucleotide variant	NM_015040.4(PIKFYVE):c.2016T>G (p.Gly672=)	Fleck corneal dystrophy [RCV001137527]	benign	2	208317875	208317875	Human	1	name
28892352	CV883554	single nucleotide variant	NM_015040.4(PIKFYVE):c.2733C>T (p.Ile911=)	Fleck corneal dystrophy [RCV001139736]	uncertain significance	2	208325544	208325544	Human	1	name
126745140	CV1015966	single nucleotide variant	NM_015040.4(PIKFYVE):c.904C>T (p.Arg302Ter)	Fleck corneal dystrophy [RCV002308500]	pathogenic\|likely pathogenic	2	208288811	208288811	Human	1	name
150543302	CV1315175	single nucleotide variant	NM_015040.4(PIKFYVE):c.935C>G (p.Ser312Ter)	Fleck corneal dystrophy [RCV001782632]	likely pathogenic	2	208298664	208298664	Human	1	name
156322360	CV1873282	single nucleotide variant	NM_015040.4(PIKFYVE):c.3297G>A (p.Glu1099=)	not provided [RCV003063159]	likely benign	2	208326108	208326108	Human		name
156237048	CV2183774	single nucleotide variant	NM_015040.4(PIKFYVE):c.4491C>G (p.Leu1497=)	not provided [RCV003059524]	likely benign	2	208336171	208336171	Human		name
156151812	CV2198003	single nucleotide variant	NM_015040.4(PIKFYVE):c.985A>G (p.Ser329Gly)	Inborn genetic diseases [RCV002641906]	uncertain significance	2	208298714	208298714	Human	1	name
155992482	CV2286202	single nucleotide variant	NM_015040.4(PIKFYVE):c.569G>A (p.Arg190His)	Inborn genetic diseases [RCV002864628]	uncertain significance	2	208277664	208277664	Human	1	name
156296832	CV2319186	single nucleotide variant	NM_015040.4(PIKFYVE):c.376G>A (p.Val126Ile)	Inborn genetic diseases [RCV002936031]	uncertain significance	2	208276765	208276765	Human	1	name
401875784	CV2767007	single nucleotide variant	NM_015040.4(PIKFYVE):c.889G>C (p.Gly297Arg)	Inborn genetic diseases [RCV003347824]	uncertain significance	2	208288796	208288796	Human	1	name
401911406	CV2800298	deletion	NM_015040.4(PIKFYVE):c.1031del (p.Asp344fs)	PIKFYVE-related disorder [RCV003399537]	likely pathogenic	2	208298760	208298760	Human		name , trait , alternate_id
11581812	CV284323	single nucleotide variant	NM_015040.4(PIKFYVE):c.3114A>G (p.Arg1038=)	Fleck corneal dystrophy [RCV000385242]\|not provided [RCV002523104]	benign	2	208325925	208325925	Human	1	name
11582043	CV284328	single nucleotide variant	NM_015040.4(PIKFYVE):c.3564T>C (p.Asn1188=)	Fleck corneal dystrophy [RCV000395304]\|not provided [RCV002057644]	benign	2	208326375	208326375	Human	1	name
11578775	CV284331	single nucleotide variant	NM_015040.4(PIKFYVE):c.5334G>A (p.Thr1778=)	Fleck corneal dystrophy [RCV000288994]\|not provided [RCV002057646]	benign	2	208347983	208347983	Human	1	name
11581673	CV284336	single nucleotide variant	NM_015040.4(PIKFYVE):c.5397A>G (p.Thr1799=)	Fleck corneal dystrophy [RCV000379957]\|not provided [RCV002057647]	benign	2	208350046	208350046	Human	1	name
11578525	CV284338	single nucleotide variant	NM_015040.4(PIKFYVE):c.5511T>C (p.Ile1837=)	Fleck corneal dystrophy [RCV000283380]\|not provided [RCV002523105]	benign	2	208350847	208350847	Human	1	name
11580669	CV284342	single nucleotide variant	NM_015040.4(PIKFYVE):c.5526A>G (p.Glu1842=)	Fleck corneal dystrophy [RCV000340728]\|not provided [RCV001594967]	benign	2	208350862	208350862	Human	1	name
11598377	CV287010	single nucleotide variant	NM_015040.4(PIKFYVE):c.3354A>G (p.Gly1118=)	Fleck corneal dystrophy [RCV000404992]\|PIKFYVE-related disorder [RCV003912404]	benign\|likely benign	2	208326165	208326165	Human	1	name , trait , alternate_id
11588069	CV287015	single nucleotide variant	NM_015040.4(PIKFYVE):c.4215A>G (p.Leu1405=)	Fleck corneal dystrophy [RCV000300186]\|not provided [RCV000966145]	benign\|likely benign	2	208335378	208335378	Human	1	name
11587811	CV287022	single nucleotide variant	NM_015040.4(PIKFYVE):c.4629A>G (p.Ala1543=)	Fleck corneal dystrophy [RCV000298050]\|not provided [RCV000951242]	benign\|likely benign	2	208338525	208338525	Human	1	name
11597746	CV287025	single nucleotide variant	NM_015040.4(PIKFYVE):c.5727G>A (p.Ala1909=)	Fleck corneal dystrophy [RCV000397687]\|not provided [RCV004710875]	likely benign	2	208352665	208352665	Human	1	name
11585950	CV287349	single nucleotide variant	NM_015040.4(PIKFYVE):c.307C>T (p.Arg103Cys)	Fleck corneal dystrophy [RCV000284516]\|Inborn genetic diseases [RCV003243089]	uncertain significance	2	208273718	208273718	Human	2	name
11593147	CV287369	single nucleotide variant	NM_015040.4(PIKFYVE):c.3270C>G (p.Leu1090=)	Fleck corneal dystrophy [RCV000345785]	uncertain significance	2	208326081	208326081	Human	1	name
11582373	CV287373	single nucleotide variant	NM_015040.4(PIKFYVE):c.4455G>A (p.Ser1485=)	Fleck corneal dystrophy [RCV000259284]\|not provided [RCV000916339]	benign\|likely benign	2	208336135	208336135	Human	1	name
11595325	CV287376	single nucleotide variant	NM_015040.4(PIKFYVE):c.4731A>G (p.Gln1577=)	Fleck corneal dystrophy [RCV000369116]\|not provided [RCV000948618]	benign	2	208339476	208339476	Human	1	name
11584060	CV287398	single nucleotide variant	NM_015040.4(PIKFYVE):c.4989C>T (p.Cys1663=)	Fleck corneal dystrophy [RCV000271233]\|not provided [RCV002521378]	benign\|likely benign	2	208342611	208342611	Human	1	name
11592711	CV287399	single nucleotide variant	NM_015040.4(PIKFYVE):c.5343G>A (p.Glu1781=)	Fleck corneal dystrophy [RCV000341665]\|not provided [RCV004709896]	benign\|likely benign	2	208347992	208347992	Human	1	name
11589979	CV287466	single nucleotide variant	NM_015040.4(PIKFYVE):c.5727G>T (p.Ala1909=)	Fleck corneal dystrophy [RCV000314967]\|PIKFYVE-related disorder [RCV003940347]\|not provided [RCV000903892]	benign\|likely benign	2	208352665	208352665	Human	1	name , trait , alternate_id
405145036	CV3126095	single nucleotide variant	NM_015040.4(PIKFYVE):c.3357T>C (p.Ser1119=)	not provided [RCV003817011]	likely benign	2	208326168	208326168	Human		name
405286200	CV3192721	single nucleotide variant	NM_015040.4(PIKFYVE):c.4863G>A (p.Lys1621=)	PIKFYVE-related disorder [RCV003981476]	likely benign	2	208340063	208340063	Human		name , trait , alternate_id
405290920	CV3207633	single nucleotide variant	NM_015040.4(PIKFYVE):c.5724G>A (p.Thr1908=)	PIKFYVE-related disorder [RCV003927199]	likely benign	2	208352662	208352662	Human		name , trait , alternate_id
405791061	CV3372707	single nucleotide variant	NM_015040.4(PIKFYVE):c.625G>T (p.Ala209Ser)	Inborn genetic diseases [RCV004505959]	uncertain significance	2	208285737	208285737	Human	1	name
405791064	CV3372708	single nucleotide variant	NM_015040.4(PIKFYVE):c.727G>C (p.Val243Leu)	Inborn genetic diseases [RCV004505960]	uncertain significance	2	208285839	208285839	Human	1	name
405791069	CV3372709	single nucleotide variant	NM_015040.4(PIKFYVE):c.784C>T (p.Arg262Cys)	Inborn genetic diseases [RCV004505961]	uncertain significance	2	208285896	208285896	Human	1	name
405791257	CV3372710	single nucleotide variant	NM_015040.4(PIKFYVE):c.893A>G (p.Lys298Arg)	Inborn genetic diseases [RCV004505962]	uncertain significance	2	208288800	208288800	Human	1	name
407512092	CV3463644	single nucleotide variant	NM_015040.4(PIKFYVE):c.718G>A (p.Ala240Thr)	Inborn genetic diseases [RCV004648276]	uncertain significance	2	208285830	208285830	Human	1	name
408374544	CV3517115	single nucleotide variant	NM_015040.4(PIKFYVE):c.526C>T (p.Arg176Cys)	Inborn genetic diseases [RCV004953737]\|PIKFYVE-related disorder [RCV004746877]	uncertain significance	2	208277621	208277621	Human	2	name , trait , alternate_id
408394656	CV3521578	single nucleotide variant	NM_015040.4(PIKFYVE):c.577A>G (p.Asn193Asp)	Fleck corneal dystrophy [RCV004764376]	uncertain significance	2	208277672	208277672	Human	1	name
597723787	CV3575966	single nucleotide variant	NM_015040.4(PIKFYVE):c.929A>C (p.Asn310Thr)	Inborn genetic diseases [RCV004961833]	uncertain significance	2	208298658	208298658	Human	1	name
597723827	CV3575971	single nucleotide variant	NM_015040.4(PIKFYVE):c.618C>A (p.Asp206Glu)	Inborn genetic diseases [RCV004961838]	uncertain significance	2	208285730	208285730	Human	1	name
597723998	CV3575991	single nucleotide variant	NM_015040.4(PIKFYVE):c.410G>A (p.Arg137His)	Inborn genetic diseases [RCV004961858]	uncertain significance	2	208276799	208276799	Human	1	name
597931827	CV3742577	single nucleotide variant	NM_015040.4(PIKFYVE):c.4296A>G (p.Ala1432=)	not provided [RCV005076016]	likely benign	2	208335832	208335832	Human		name
597910112	CV3770326	single nucleotide variant	NM_015040.4(PIKFYVE):c.5712A>G (p.Gln1904=)	not provided [RCV005113627]	benign	2	208351452	208351452	Human		name
597960453	CV3843663	single nucleotide variant	NM_015040.4(PIKFYVE):c.883G>A (p.Asp295Asn)	not provided [RCV005192700]	uncertain significance	2	208288790	208288790	Human		name
597967729	CV3853249	single nucleotide variant	NM_015040.4(PIKFYVE):c.3993G>A (p.Glu1331=)	not provided [RCV005194891]	likely benign	2	208333344	208333344	Human		name
598272811	CV4006714	single nucleotide variant	NM_015040.4(PIKFYVE):c.779C>T (p.Ala260Val)	Inborn genetic diseases [RCV005389485]	uncertain significance	2	208285891	208285891	Human	1	name
598272829	CV4006720	single nucleotide variant	NM_015040.4(PIKFYVE):c.772A>G (p.Arg258Gly)	Inborn genetic diseases [RCV005389491]	uncertain significance	2	208285884	208285884	Human	1	name
598205213	CV4006727	single nucleotide variant	NM_015040.4(PIKFYVE):c.950G>A (p.Gly317Asp)	Inborn genetic diseases [RCV005399431]	uncertain significance	2	208298679	208298679	Human	1	name
15153426	CV747189	single nucleotide variant	NM_015040.4(PIKFYVE):c.3066C>T (p.Asp1022=)	not provided [RCV000924057]	likely benign	2	208325877	208325877	Human		name
28894159	CV883547	single nucleotide variant	NM_015040.4(PIKFYVE):c.308G>A (p.Arg103His)	Fleck corneal dystrophy [RCV001140400]	uncertain significance	2	208273719	208273719	Human	1	name
28885778	CV883558	single nucleotide variant	NM_015040.4(PIKFYVE):c.3459C>T (p.Ala1153=)	Fleck corneal dystrophy [RCV001137609]	benign	2	208326270	208326270	Human	1	name
28892632	CV883563	single nucleotide variant	NM_015040.4(PIKFYVE):c.4585A>C (p.Arg1529=)	Fleck corneal dystrophy [RCV001139839]	benign	2	208336902	208336902	Human	1	name
28899745	CV883566	single nucleotide variant	NM_015040.4(PIKFYVE):c.5088C>T (p.Ala1696=)	Fleck corneal dystrophy [RCV001142483]	uncertain significance	2	208345171	208345171	Human	1	name
28892991	CV883569	single nucleotide variant	NM_015040.4(PIKFYVE):c.6060G>A (p.Leu2020=)	Fleck corneal dystrophy [RCV001139966]\|not provided [RCV002559351]	benign	2	208354113	208354113	Human	1	name
28892993	CV883570	single nucleotide variant	NM_015040.4(PIKFYVE):c.6165A>C (p.Gly2055=)	Fleck corneal dystrophy [RCV001139967]	uncertain significance	2	208354629	208354629	Human	1	name
28892997	CV883571	single nucleotide variant	NM_015040.4(PIKFYVE):c.6243C>T (p.Asp2081=)	Fleck corneal dystrophy [RCV001139968]	likely benign	2	208355251	208355251	Human	1	name
127251439	CV1059139	duplication	NM_015040.4(PIKFYVE):c.4428dup (p.Val1477fs)	not provided [RCV001385493]	pathogenic	2	208336107	208336108	Human		name
150520665	CV1290492	single nucleotide variant	NM_015040.4(PIKFYVE):c.2344C>T (p.Arg782Ter)	Fleck corneal dystrophy [RCV001731226]	pathogenic	2	208324923	208324923	Human	1	name
8556392	CV16738	single nucleotide variant	NM_015040.4(PIKFYVE):c.2962C>T (p.Gln988Ter)	Fleck corneal dystrophy [RCV000001767]	pathogenic	2	208325773	208325773	Human	1	name
153348013	CV1695062	single nucleotide variant	NM_015040.4(PIKFYVE):c.1958A>G (p.Lys653Arg)	not provided [RCV002278993]	uncertain significance	2	208315324	208315324	Human		name
156099634	CV1920652	single nucleotide variant	NM_015040.4(PIKFYVE):c.1984C>G (p.Arg662Gly)	not provided [RCV002592226]	uncertain significance	2	208315350	208315350	Human		name
156267595	CV2198831	single nucleotide variant	NM_015040.4(PIKFYVE):c.2843A>C (p.Gln948Pro)	Inborn genetic diseases [RCV002669342]	uncertain significance	2	208325654	208325654	Human	1	name
11051228	CV224980	duplication	NM_015040.4(PIKFYVE):c.3150dup (p.Asp1051fs)	Fleck corneal dystrophy [RCV000209630]	pathogenic	2	208325957	208325958	Human	1	name
156032925	CV2275062	single nucleotide variant	NM_015040.4(PIKFYVE):c.2572T>C (p.Phe858Leu)	Inborn genetic diseases [RCV002845514]	uncertain significance	2	208325383	208325383	Human	1	name
156048767	CV2315795	single nucleotide variant	NM_015040.4(PIKFYVE):c.2682G>C (p.Glu894Asp)	Inborn genetic diseases [RCV002924341]\|PIKFYVE-related disorder [RCV004747248]	likely benign\|uncertain significance	2	208325493	208325493	Human	2	name , trait , alternate_id
156356075	CV2320719	single nucleotide variant	NM_015040.4(PIKFYVE):c.1123C>T (p.Arg375Cys)	Inborn genetic diseases [RCV002940632]	uncertain significance	2	208301009	208301009	Human	1	name
156362018	CV2322993	single nucleotide variant	NM_015040.4(PIKFYVE):c.1259A>G (p.Asp420Gly)	Inborn genetic diseases [RCV002941486]	uncertain significance	2	208302292	208302292	Human	1	name
156396747	CV2330248	single nucleotide variant	NM_015040.4(PIKFYVE):c.1340C>G (p.Thr447Arg)	Inborn genetic diseases [RCV002945067]	uncertain significance	2	208304190	208304190	Human	1	name
156283855	CV2348974	single nucleotide variant	NM_015040.4(PIKFYVE):c.2873A>G (p.His958Arg)	Inborn genetic diseases [RCV002989557]	uncertain significance	2	208325684	208325684	Human	1	name
156132381	CV2350121	single nucleotide variant	NM_015040.4(PIKFYVE):c.2834A>G (p.Asn945Ser)	Inborn genetic diseases [RCV003003421]	likely benign	2	208325645	208325645	Human	1	name
155929473	CV2356845	single nucleotide variant	NM_015040.4(PIKFYVE):c.1275C>G (p.His425Gln)	Inborn genetic diseases [RCV002970500]	uncertain significance	2	208302308	208302308	Human	1	name
329386744	CV2428436	single nucleotide variant	NM_015040.4(PIKFYVE):c.1219A>G (p.Ile407Val)	Inborn genetic diseases [RCV003189774]	uncertain significance	2	208302252	208302252	Human	1	name
329360155	CV2446616	single nucleotide variant	NM_015040.4(PIKFYVE):c.2719G>A (p.Gly907Ser)	Inborn genetic diseases [RCV003179777]	likely benign	2	208325530	208325530	Human	1	name
329400822	CV2448939	single nucleotide variant	NM_015040.4(PIKFYVE):c.2345G>A (p.Arg782Gln)	Inborn genetic diseases [RCV003197824]	uncertain significance	2	208324924	208324924	Human	1	name
329362694	CV2467100	single nucleotide variant	NM_015040.4(PIKFYVE):c.2095A>G (p.Ile699Val)	Inborn genetic diseases [RCV003206152]	uncertain significance	2	208320264	208320264	Human	1	name
401931360	CV2800951	single nucleotide variant	NM_015040.4(PIKFYVE):c.1510C>T (p.Gln504Ter)	PIKFYVE-related disorder [RCV003391331]	likely pathogenic	2	208304887	208304887	Human		name , trait , alternate_id
11661321	CV284282	single nucleotide variant	NM_015040.4(PIKFYVE):c.1522G>C (p.Asp508His)	Fleck corneal dystrophy [RCV000375394]	uncertain significance	2	208304899	208304899	Human	1	name
11579125	CV284288	single nucleotide variant	NM_015040.4(PIKFYVE):c.1849A>G (p.Met617Val)	Fleck corneal dystrophy [RCV000295958]\|not provided [RCV002521372]	benign	2	208315215	208315215	Human	4	name
11579125	CV284288	single nucleotide variant	NM_015040.4(PIKFYVE):c.1849A>G (p.Met617Val)	Fleck corneal dystrophy [RCV000295958]\|not provided [RCV002521372]	benign	2	208315215	208315216	Human	4	name
11582058	CV284302	single nucleotide variant	NM_015040.4(PIKFYVE):c.1946G>A (p.Arg649Gln)	Fleck corneal dystrophy [RCV000396084]\|not provided [RCV002521373]	likely benign\|uncertain significance	2	208315312	208315312	Human	1	name
11581328	CV284315	single nucleotide variant	NM_015040.4(PIKFYVE):c.2087G>A (p.Ser696Asn)	Fleck corneal dystrophy [RCV000365792]\|not provided [RCV002057640]	benign	2	208320256	208320256	Human	1	name
11647777	CV285005	single nucleotide variant	NM_015040.4(PIKFYVE):c.1621C>A (p.Pro541Thr)	Fleck corneal dystrophy [RCV000278477]	uncertain significance	2	208304998	208304998	Human	1	name
11658374	CV285011	single nucleotide variant	NM_015040.4(PIKFYVE):c.1928A>G (p.Gln643Arg)	Fleck corneal dystrophy [RCV000348639]	uncertain significance	2	208315294	208315294	Human	1	name
405203740	CV2858428	single nucleotide variant	NM_015040.4(PIKFYVE):c.2452C>T (p.Pro818Ser)	PIKFYVE-related disorder [RCV003954230]\|not provided [RCV003551678]	benign	2	208325031	208325031	Human	1	name , trait , alternate_id
11594374	CV287000	single nucleotide variant	NM_015040.4(PIKFYVE):c.2549C>T (p.Ala850Val)	Fleck corneal dystrophy [RCV000358860]\|Inborn genetic diseases [RCV002521376]	benign\|uncertain significance	2	208325360	208325360	Human	2	name
11596782	CV287006	single nucleotide variant	NM_015040.4(PIKFYVE):c.2984A>T (p.Gln995Leu)	Fleck corneal dystrophy [RCV000386356]\|not provided [RCV002051842]	benign	2	208325795	208325795	Human	1	name
11587264	CV287007	single nucleotide variant	NM_015040.4(PIKFYVE):c.2993C>G (p.Thr998Ser)	Fleck corneal dystrophy [RCV000293929]\|not provided [RCV002051843]	benign	2	208325804	208325804	Human	1	name
11592162	CV287351	single nucleotide variant	NM_015040.4(PIKFYVE):c.1715G>A (p.Arg572Gln)	Fleck corneal dystrophy [RCV000335905]\|PIKFYVE-related disorder [RCV003969958]\|not provided [RCV002521371]	benign\|likely benign	2	208314312	208314312	Human	1	name , trait , alternate_id
11589039	CV287352	single nucleotide variant	NM_015040.4(PIKFYVE):c.2164A>G (p.Thr722Ala)	Fleck corneal dystrophy [RCV000307427]	benign\|likely benign	2	208320333	208320333	Human	1	name
11590144	CV287364	single nucleotide variant	NM_015040.4(PIKFYVE):c.2795T>C (p.Leu932Ser)	Fleck corneal dystrophy [RCV000316508]\|not provided [RCV002057642]	benign	2	208325606	208325606	Human	1	name
405124232	CV2889518	single nucleotide variant	NM_015040.4(PIKFYVE):c.2045A>G (p.Asn682Ser)	not provided [RCV003559411]	uncertain significance	2	208317904	208317904	Human		name
405790983	CV3372686	single nucleotide variant	NM_015040.4(PIKFYVE):c.1067A>T (p.Lys356Ile)	Inborn genetic diseases [RCV004505938]	uncertain significance	2	208300953	208300953	Human	1	name
405790987	CV3372687	single nucleotide variant	NM_015040.4(PIKFYVE):c.1228G>A (p.Gly410Arg)	Inborn genetic diseases [RCV004505939]	uncertain significance	2	208302261	208302261	Human	1	name
405790991	CV3372688	single nucleotide variant	NM_015040.4(PIKFYVE):c.2083A>G (p.Met695Val)	Inborn genetic diseases [RCV004505940]	uncertain significance	2	208320252	208320252	Human	1	name
405790995	CV3372689	single nucleotide variant	NM_015040.4(PIKFYVE):c.2170A>G (p.Ile724Val)	Inborn genetic diseases [RCV004505941]	uncertain significance	2	208320339	208320339	Human	1	name
405790998	CV3372690	single nucleotide variant	NM_015040.4(PIKFYVE):c.2395C>T (p.Leu799Phe)	Inborn genetic diseases [RCV004505942]	uncertain significance	2	208324974	208324974	Human	1	name
405791001	CV3372691	single nucleotide variant	NM_015040.4(PIKFYVE):c.2787G>T (p.Leu929Phe)	Inborn genetic diseases [RCV004505943]	uncertain significance	2	208325598	208325598	Human	1	name
405791006	CV3372692	single nucleotide variant	NM_015040.4(PIKFYVE):c.2891C>A (p.Pro964Gln)	Inborn genetic diseases [RCV004505944]	uncertain significance	2	208325702	208325702	Human	1	name
405791009	CV3372693	single nucleotide variant	NM_015040.4(PIKFYVE):c.2891C>T (p.Pro964Leu)	Inborn genetic diseases [RCV004505945]	uncertain significance	2	208325702	208325702	Human	1	name
407530793	CV3463641	single nucleotide variant	NM_015040.4(PIKFYVE):c.2865T>G (p.His955Gln)	Inborn genetic diseases [RCV004657239]	uncertain significance	2	208325676	208325676	Human	1	name
407512089	CV3463643	single nucleotide variant	NM_015040.4(PIKFYVE):c.2624A>G (p.Asp875Gly)	Inborn genetic diseases [RCV004648275]	uncertain significance	2	208325435	208325435	Human	1	name
407512094	CV3463645	single nucleotide variant	NM_015040.4(PIKFYVE):c.1154T>C (p.Ile385Thr)	Inborn genetic diseases [RCV004648277]	uncertain significance	2	208301040	208301040	Human	1	name
407506223	CV3496121	single nucleotide variant	NM_015040.4(PIKFYVE):c.1657G>A (p.Gly553Arg)	not provided [RCV004697961]	uncertain significance	2	208312256	208312256	Human		name
597723793	CV3575967	single nucleotide variant	NM_015040.4(PIKFYVE):c.1037G>A (p.Arg346His)	Inborn genetic diseases [RCV004961834]	uncertain significance	2	208298766	208298766	Human	1	name
597723803	CV3575968	single nucleotide variant	NM_015040.4(PIKFYVE):c.2846C>G (p.Ala949Gly)	Inborn genetic diseases [RCV004961835]	uncertain significance	2	208325657	208325657	Human	1	name
597723834	CV3575972	single nucleotide variant	NM_015040.4(PIKFYVE):c.2300A>G (p.His767Arg)	Inborn genetic diseases [RCV004961839]\|not provided [RCV005107700]	uncertain significance	2	208324251	208324251	Human	1	name
597723900	CV3575979	single nucleotide variant	NM_015040.4(PIKFYVE):c.1322G>A (p.Ser441Asn)	Inborn genetic diseases [RCV004961846]	uncertain significance	2	208304172	208304172	Human	1	name
597723920	CV3575981	single nucleotide variant	NM_015040.4(PIKFYVE):c.2272C>T (p.Arg758Trp)	Inborn genetic diseases [RCV004961848]	uncertain significance	2	208324223	208324223	Human	1	name
597723983	CV3575989	single nucleotide variant	NM_015040.4(PIKFYVE):c.1211C>T (p.Ala404Val)	Inborn genetic diseases [RCV004961856]	uncertain significance	2	208302244	208302244	Human	1	name
597723991	CV3575990	single nucleotide variant	NM_015040.4(PIKFYVE):c.1612C>T (p.Pro538Ser)	Inborn genetic diseases [RCV004961857]	uncertain significance	2	208304989	208304989	Human	1	name
597882796	CV3741212	single nucleotide variant	NM_015040.4(PIKFYVE):c.2616T>A (p.Phe872Leu)	not provided [RCV005070119]	uncertain significance	2	208325427	208325427	Human		name
597944156	CV3782768	single nucleotide variant	NM_015040.4(PIKFYVE):c.1638G>T (p.Glu546Asp)	not provided [RCV005134308]	uncertain significance	2	208312237	208312237	Human		name
597848170	CV3792920	single nucleotide variant	NM_015040.4(PIKFYVE):c.2575A>G (p.Met859Val)	not provided [RCV005145056]	benign	2	208325386	208325386	Human		name
598272815	CV4006715	single nucleotide variant	NM_015040.4(PIKFYVE):c.1565A>G (p.Asp522Gly)	Inborn genetic diseases [RCV005389486]	uncertain significance	2	208304942	208304942	Human	1	name
598272817	CV4006716	single nucleotide variant	NM_015040.4(PIKFYVE):c.1684G>A (p.Ala562Thr)	Inborn genetic diseases [RCV005389487]	uncertain significance	2	208312283	208312283	Human	1	name
598272827	CV4006719	single nucleotide variant	NM_015040.4(PIKFYVE):c.2926C>T (p.Pro976Ser)	Inborn genetic diseases [RCV005389490]	uncertain significance	2	208325737	208325737	Human	1	name
598205199	CV4006721	single nucleotide variant	NM_015040.4(PIKFYVE):c.2753C>T (p.Pro918Leu)	Inborn genetic diseases [RCV005399428]	uncertain significance	2	208325564	208325564	Human	1	name
598272833	CV4006722	single nucleotide variant	NM_015040.4(PIKFYVE):c.1003A>C (p.Thr335Pro)	Inborn genetic diseases [RCV005389492]	uncertain significance	2	208298732	208298732	Human	1	name
598272835	CV4006723	single nucleotide variant	NM_015040.4(PIKFYVE):c.2969C>A (p.Ala990Asp)	Inborn genetic diseases [RCV005389493]	uncertain significance	2	208325780	208325780	Human	1	name
598205210	CV4006726	single nucleotide variant	NM_015040.4(PIKFYVE):c.1637A>C (p.Glu546Ala)	Inborn genetic diseases [RCV005399430]	uncertain significance	2	208312236	208312236	Human	1	name
14693644	CV620051	single nucleotide variant	NM_015040.4(PIKFYVE):c.2959C>T (p.Gln987Ter)	Fleck corneal dystrophy [RCV000779298]	uncertain significance	2	208325770	208325770	Human		name
15186626	CV697275	single nucleotide variant	NM_015040.4(PIKFYVE):c.1348C>T (p.Pro450Ser)	not provided [RCV000953341]	benign	2	208304198	208304198	Human		name
8630152	CV85299	single nucleotide variant	NM_015040.3(PIKFYVE):c.1370C>T (p.Ser457Phe)	Malignant melanoma [RCV000065381]	not provided	2	208304220	208304220	Human		name
28894171	CV883549	single nucleotide variant	NM_015040.4(PIKFYVE):c.1711C>T (p.Arg571Cys)	Fleck corneal dystrophy [RCV001140405]\|not provided [RCV003769670]	uncertain significance	2	208314308	208314308	Human	1	name
28899199	CV883551	single nucleotide variant	NM_015040.4(PIKFYVE):c.1954G>A (p.Val652Ile)	Fleck corneal dystrophy [RCV001142265]\|not provided [RCV004709033]	benign	2	208315320	208315320	Human	1	name
28892350	CV883553	single nucleotide variant	NM_015040.4(PIKFYVE):c.2641C>A (p.Pro881Thr)	Fleck corneal dystrophy [RCV001139735]	uncertain significance	2	208325452	208325452	Human	1	name
28894450	CV883555	single nucleotide variant	NM_015040.4(PIKFYVE):c.2873A>T (p.His958Leu)	Fleck corneal dystrophy [RCV001140515]	uncertain significance	2	208325684	208325684	Human	1	name
28894453	CV883556	single nucleotide variant	NM_015040.4(PIKFYVE):c.2881A>G (p.Thr961Ala)	Fleck corneal dystrophy [RCV001140516]	benign	2	208325692	208325692	Human	1	name
28894455	CV883557	single nucleotide variant	NM_015040.4(PIKFYVE):c.2954A>G (p.Asp985Gly)	Fleck corneal dystrophy [RCV001140517]	uncertain significance	2	208325765	208325765	Human	1	name
150520668	CV1290493	single nucleotide variant	NM_015040.4(PIKFYVE):c.4511G>A (p.Trp1504Ter)	Fleck corneal dystrophy [RCV001731227]	pathogenic	2	208336191	208336191	Human	1	name
8556391	CV16737	single nucleotide variant	NM_015040.4(PIKFYVE):c.3308A>G (p.Lys1103Arg)	Fleck corneal dystrophy [RCV000001766]	pathogenic	2	208326119	208326119	Human	1	name
156318619	CV1965886	single nucleotide variant	NM_015040.4(PIKFYVE):c.4160T>G (p.Leu1387Arg)	not provided [RCV002600094]	uncertain significance	2	208335323	208335323	Human		name
156033191	CV2214605	single nucleotide variant	NM_015040.4(PIKFYVE):c.5837T>C (p.Met1946Thr)	Inborn genetic diseases [RCV002691731]	uncertain significance	2	208352775	208352775	Human	1	name
156380797	CV2218953	single nucleotide variant	NM_015040.4(PIKFYVE):c.5723C>T (p.Thr1908Met)	Inborn genetic diseases [RCV002678660]	uncertain significance	2	208352661	208352661	Human	1	name
156387105	CV2221403	single nucleotide variant	NM_015040.4(PIKFYVE):c.4681T>C (p.Phe1561Leu)	Inborn genetic diseases [RCV002723806]	uncertain significance	2	208339426	208339426	Human	1	name
156073446	CV2240710	single nucleotide variant	NM_015040.4(PIKFYVE):c.6010A>G (p.Ser2004Gly)	Inborn genetic diseases [RCV002797531]	uncertain significance	2	208354063	208354063	Human	1	name
156026813	CV2242391	single nucleotide variant	NM_015040.4(PIKFYVE):c.3407C>G (p.Thr1136Ser)	Inborn genetic diseases [RCV002757771]	uncertain significance	2	208326218	208326218	Human	1	name
156182606	CV2255250	single nucleotide variant	NM_015040.4(PIKFYVE):c.3941C>G (p.Ser1314Cys)	Inborn genetic diseases [RCV002788705]	uncertain significance	2	208330672	208330672	Human	1	name
12907352	CV227233	single nucleotide variant	NM_015040.4(PIKFYVE):c.3500C>G (p.Ser1167Ter)	Fleck corneal dystrophy [RCV000490347]	likely pathogenic	2	208326311	208326311	Human	1	name
155903244	CV2274844	single nucleotide variant	NM_015040.4(PIKFYVE):c.4757C>A (p.Ser1586Tyr)	Inborn genetic diseases [RCV002836820]	uncertain significance	2	208339502	208339502	Human	1	name
156005194	CV2281465	single nucleotide variant	NM_015040.4(PIKFYVE):c.5138G>A (p.Ser1713Asn)	Inborn genetic diseases [RCV002865710]	uncertain significance	2	208346076	208346076	Human	1	name
156134590	CV2284674	single nucleotide variant	NM_015040.4(PIKFYVE):c.5667C>G (p.Asp1889Glu)	Inborn genetic diseases [RCV002849913]	uncertain significance	2	208351407	208351407	Human	1	name
155961620	CV2311934	single nucleotide variant	NM_015040.4(PIKFYVE):c.5333C>T (p.Thr1778Met)	Inborn genetic diseases [RCV002906086]	uncertain significance	2	208347982	208347982	Human	1	name
156147804	CV2321591	single nucleotide variant	NM_015040.4(PIKFYVE):c.3482G>A (p.Arg1161Lys)	Inborn genetic diseases [RCV002954468]	uncertain significance	2	208326293	208326293	Human	1	name
156304041	CV2359512	single nucleotide variant	NM_015040.4(PIKFYVE):c.4727T>C (p.Leu1576Pro)	Inborn genetic diseases [RCV003010546]	uncertain significance	2	208339472	208339472	Human	1	name
156206915	CV2360367	single nucleotide variant	NM_015040.4(PIKFYVE):c.5828G>A (p.Gly1943Glu)	Inborn genetic diseases [RCV003006537]	uncertain significance	2	208352766	208352766	Human	1	name
156208535	CV2370003	single nucleotide variant	NM_015040.4(PIKFYVE):c.5279A>G (p.Gln1760Arg)	Inborn genetic diseases [RCV003006638]	uncertain significance	2	208347928	208347928	Human	1	name
155999161	CV2373386	single nucleotide variant	NM_015040.4(PIKFYVE):c.4042C>T (p.His1348Tyr)	Fleck corneal dystrophy [RCV005399228]\|Inborn genetic diseases [RCV002689899]	uncertain significance	2	208333393	208333393	Human	2	name
156165432	CV2373491	single nucleotide variant	NM_015040.4(PIKFYVE):c.3437A>G (p.Gln1146Arg)	Inborn genetic diseases [RCV002698522]	uncertain significance	2	208326248	208326248	Human	1	name
156006628	CV2394204	single nucleotide variant	NM_015040.4(PIKFYVE):c.3907G>A (p.Val1303Ile)	Inborn genetic diseases [RCV002734622]	uncertain significance	2	208330638	208330638	Human	1	name
155932466	CV2400029	single nucleotide variant	NM_015040.4(PIKFYVE):c.3565G>C (p.Glu1189Gln)	Inborn genetic diseases [RCV002774503]	uncertain significance	2	208326376	208326376	Human	1	name
329400710	CV2438687	single nucleotide variant	NM_015040.4(PIKFYVE):c.3341A>G (p.Gln1114Arg)	Inborn genetic diseases [RCV003197711]	uncertain significance	2	208326152	208326152	Human	1	name
329362500	CV2442094	single nucleotide variant	NM_015040.4(PIKFYVE):c.4054C>T (p.Arg1352Cys)	Inborn genetic diseases [RCV003180964]	uncertain significance	2	208333405	208333405	Human	1	name
329387862	CV2471053	single nucleotide variant	NM_015040.4(PIKFYVE):c.3581G>A (p.Arg1194Lys)	Inborn genetic diseases [RCV003215474]	likely benign	2	208326392	208326392	Human	1	name
329393623	CV2472007	single nucleotide variant	NM_015040.4(PIKFYVE):c.5704G>C (p.Val1902Leu)	Inborn genetic diseases [RCV003218378]	uncertain significance	2	208351444	208351444	Human	1	name
329395292	CV2473079	single nucleotide variant	NM_015040.4(PIKFYVE):c.4521G>T (p.Arg1507Ser)	not provided [RCV003219063]	uncertain significance	2	208336838	208336838	Human		name
401747400	CV2696688	single nucleotide variant	NM_015040.4(PIKFYVE):c.5218G>C (p.Ala1740Pro)	Inborn genetic diseases [RCV003252814]	uncertain significance	2	208347867	208347867	Human	1	name
401737054	CV2699660	single nucleotide variant	NM_015040.4(PIKFYVE):c.5999C>T (p.Thr2000Ile)	Inborn genetic diseases [RCV003250185]	uncertain significance	2	208354052	208354052	Human	1	name
401762851	CV2710345	single nucleotide variant	NM_015040.4(PIKFYVE):c.4192T>C (p.Phe1398Leu)	Inborn genetic diseases [RCV003258021]	uncertain significance	2	208335355	208335355	Human	1	name
401796309	CV2740491	single nucleotide variant	NM_015040.4(PIKFYVE):c.4021C>G (p.Leu1341Val)	not provided [RCV003321161]	uncertain significance	2	208333372	208333372	Human		name
401878449	CV2774361	single nucleotide variant	NM_015040.4(PIKFYVE):c.3385C>G (p.Pro1129Ala)	Inborn genetic diseases [RCV003363909]	uncertain significance	2	208326196	208326196	Human	1	name
401892126	CV2775950	single nucleotide variant	NM_015040.4(PIKFYVE):c.3503A>G (p.Asp1168Gly)	Inborn genetic diseases [RCV003355260]	uncertain significance	2	208326314	208326314	Human	1	name
401890777	CV2778344	single nucleotide variant	NM_015040.4(PIKFYVE):c.4763A>C (p.Gln1588Pro)	Inborn genetic diseases [RCV003354571]	uncertain significance	2	208339508	208339508	Human	1	name
401877892	CV2786846	single nucleotide variant	NM_015040.4(PIKFYVE):c.3641A>G (p.Asn1214Ser)	Inborn genetic diseases [RCV003383950]	uncertain significance	2	208328202	208328202	Human	1	name
401906060	CV2802287	single nucleotide variant	NM_015040.4(PIKFYVE):c.3112C>T (p.Arg1038Ter)	PIKFYVE-related disorder [RCV003420996]	pathogenic	2	208325923	208325923	Human		name , trait , alternate_id
401908957	CV2803757	single nucleotide variant	NM_015040.4(PIKFYVE):c.5682C>G (p.Tyr1894Ter)	PIKFYVE-related disorder [RCV003397733]	uncertain significance	2	208351422	208351422	Human		name , trait , alternate_id
401917776	CV2819529	single nucleotide variant	NM_015040.4(PIKFYVE):c.6068G>A (p.Arg2023Gln)	not provided [RCV003429521]	uncertain significance	2	208354121	208354121	Human		name
11579519	CV284324	single nucleotide variant	NM_015040.4(PIKFYVE):c.3511G>A (p.Ala1171Thr)	Fleck corneal dystrophy [RCV000306008]	uncertain significance	2	208326322	208326322	Human	1	name
11580646	CV284327	single nucleotide variant	NM_015040.4(PIKFYVE):c.3547C>A (p.Gln1183Lys)	Fleck corneal dystrophy [RCV000339815]\|not provided [RCV002057643]	benign	2	208326358	208326358	Human	1	name
11578238	CV284329	single nucleotide variant	NM_015040.4(PIKFYVE):c.4774G>A (p.Gly1592Arg)	Fleck corneal dystrophy [RCV000277100]\|not provided [RCV000950645]	benign\|likely benign	2	208339519	208339519	Human	1	name
11580848	CV285016	single nucleotide variant	NM_015040.4(PIKFYVE):c.3097T>G (p.Ser1033Ala)	Fleck corneal dystrophy [RCV000346500]\|not provided [RCV002523103]	benign	2	208325908	208325908	Human	1	name
11581114	CV285020	single nucleotide variant	NM_015040.4(PIKFYVE):c.4436C>G (p.Thr1479Ser)	Fleck corneal dystrophy [RCV000356539]	benign\|uncertain significance	2	208336116	208336116	Human	1	name
11581695	CV285023	single nucleotide variant	NM_015040.4(PIKFYVE):c.5322G>C (p.Gln1774His)	Fleck corneal dystrophy [RCV000380983]\|Inborn genetic diseases [RCV002521379]	benign\|likely benign\|uncertain significance	2	208347971	208347971	Human	2	name
11579184	CV285024	single nucleotide variant	NM_015040.4(PIKFYVE):c.5594C>T (p.Ala1865Val)	Fleck corneal dystrophy [RCV000297361]	benign\|likely benign	2	208350930	208350930	Human	1	name
11649614	CV287009	single nucleotide variant	NM_015040.4(PIKFYVE):c.3122A>G (p.Tyr1041Cys)	Fleck corneal dystrophy [RCV000288578]	uncertain significance	2	208325933	208325933	Human	1	name
11598226	CV287023	single nucleotide variant	NM_015040.4(PIKFYVE):c.5573G>A (p.Arg1858Gln)	Fleck corneal dystrophy [RCV000402868]	benign\|likely benign	2	208350909	208350909	Human	1	name
11591506	CV287392	single nucleotide variant	NM_015040.4(PIKFYVE):c.4814T>G (p.Val1605Gly)	Fleck corneal dystrophy [RCV000329856]\|PIKFYVE-related disorder [RCV003940346]\|not provided [RCV002521377]	benign\|likely benign	2	208340014	208340014	Human	1	name , trait , alternate_id
11662484	CV287396	single nucleotide variant	NM_015040.4(PIKFYVE):c.4958A>G (p.Tyr1653Cys)	Fleck corneal dystrophy [RCV000386604]	uncertain significance	2	208342580	208342580	Human	1	name
405254533	CV3055447	single nucleotide variant	NM_015040.4(PIKFYVE):c.4633C>G (p.Pro1545Ala)	not provided [RCV003723054]	likely benign	2	208338529	208338529	Human		name
405286052	CV3191963	single nucleotide variant	NM_015040.4(PIKFYVE):c.4870A>G (p.Met1624Val)	PIKFYVE-related disorder [RCV003923897]	benign	2	208340070	208340070	Human		name , trait , alternate_id
405265328	CV3202460	single nucleotide variant	NM_015040.4(PIKFYVE):c.3166A>G (p.Ile1056Val)	PIKFYVE-related disorder [RCV003897366]	likely benign	2	208325977	208325977	Human		name , trait , alternate_id
405791013	CV3372694	single nucleotide variant	NM_015040.4(PIKFYVE):c.3036A>G (p.Ile1012Met)	Inborn genetic diseases [RCV004505946]	likely benign	2	208325847	208325847	Human	1	name
405791017	CV3372695	single nucleotide variant	NM_015040.4(PIKFYVE):c.3532A>G (p.Ser1178Gly)	Inborn genetic diseases [RCV004505947]	likely benign	2	208326343	208326343	Human	1	name
405791023	CV3372697	single nucleotide variant	NM_015040.4(PIKFYVE):c.3851G>A (p.Arg1284His)	Inborn genetic diseases [RCV004505949]	uncertain significance	2	208330582	208330582	Human	1	name
405791028	CV3372698	single nucleotide variant	NM_015040.4(PIKFYVE):c.3989A>G (p.Asn1330Ser)	Inborn genetic diseases [RCV004505950]	uncertain significance	2	208333340	208333340	Human	1	name
405791031	CV3372699	single nucleotide variant	NM_015040.4(PIKFYVE):c.4150C>T (p.Pro1384Ser)	Inborn genetic diseases [RCV004505951]	uncertain significance	2	208335313	208335313	Human	1	name
405791036	CV3372700	single nucleotide variant	NM_015040.4(PIKFYVE):c.4413G>T (p.Arg1471Ser)	Inborn genetic diseases [RCV004505952]	uncertain significance	2	208336093	208336093	Human	1	name
405791039	CV3372701	single nucleotide variant	NM_015040.4(PIKFYVE):c.4739C>T (p.Thr1580Met)	Inborn genetic diseases [RCV004505953]	uncertain significance	2	208339484	208339484	Human	1	name
405791042	CV3372702	single nucleotide variant	NM_015040.4(PIKFYVE):c.4757C>T (p.Ser1586Phe)	Inborn genetic diseases [RCV004505954]	uncertain significance	2	208339502	208339502	Human	1	name
405791047	CV3372703	single nucleotide variant	NM_015040.4(PIKFYVE):c.4996G>A (p.Glu1666Lys)	Inborn genetic diseases [RCV004505955]	uncertain significance	2	208342618	208342618	Human	1	name
405791050	CV3372704	single nucleotide variant	NM_015040.4(PIKFYVE):c.5291C>T (p.Thr1764Ile)	Inborn genetic diseases [RCV004505956]	uncertain significance	2	208347940	208347940	Human	1	name
405791053	CV3372705	single nucleotide variant	NM_015040.4(PIKFYVE):c.5297G>A (p.Arg1766His)	Inborn genetic diseases [RCV004505957]	uncertain significance	2	208347946	208347946	Human	1	name
405791058	CV3372706	single nucleotide variant	NM_015040.4(PIKFYVE):c.5302G>A (p.Ala1768Thr)	Inborn genetic diseases [RCV004505958]	uncertain significance	2	208347951	208347951	Human	1	name
407512087	CV3463642	single nucleotide variant	NM_015040.4(PIKFYVE):c.3252G>T (p.Gln1084His)	Inborn genetic diseases [RCV004648274]	uncertain significance	2	208326063	208326063	Human	1	name
407512096	CV3463646	single nucleotide variant	NM_015040.4(PIKFYVE):c.4201C>T (p.Arg1401Cys)	Inborn genetic diseases [RCV004648278]	uncertain significance	2	208335364	208335364	Human	1	name
407530795	CV3463647	single nucleotide variant	NM_015040.4(PIKFYVE):c.4451A>C (p.Gln1484Pro)	Inborn genetic diseases [RCV004657240]	uncertain significance	2	208336131	208336131	Human	1	name
407512099	CV3463648	single nucleotide variant	NM_015040.4(PIKFYVE):c.5959C>G (p.Pro1987Ala)	Inborn genetic diseases [RCV004648279]	uncertain significance	2	208354012	208354012	Human	1	name
597723813	CV3575969	single nucleotide variant	NM_015040.4(PIKFYVE):c.5138G>C (p.Ser1713Thr)	Inborn genetic diseases [RCV004961836]	uncertain significance	2	208346076	208346076	Human	1	name
597723818	CV3575970	single nucleotide variant	NM_015040.4(PIKFYVE):c.4588C>A (p.Leu1530Met)	Inborn genetic diseases [RCV004961837]	uncertain significance	2	208336905	208336905	Human	1	name
597723856	CV3575974	single nucleotide variant	NM_015040.4(PIKFYVE):c.5117C>T (p.Ser1706Leu)	Inborn genetic diseases [RCV004961841]	likely benign	2	208346055	208346055	Human	1	name
597723862	CV3575975	single nucleotide variant	NM_015040.4(PIKFYVE):c.3440G>A (p.Ser1147Asn)	Inborn genetic diseases [RCV004961842]	uncertain significance	2	208326251	208326251	Human	1	name
597723872	CV3575976	single nucleotide variant	NM_015040.4(PIKFYVE):c.3698C>T (p.Pro1233Leu)	Inborn genetic diseases [RCV004961843]	uncertain significance	2	208328259	208328259	Human	1	name
597723881	CV3575977	single nucleotide variant	NM_015040.4(PIKFYVE):c.3346A>G (p.Met1116Val)	Inborn genetic diseases [RCV004961844]	uncertain significance	2	208326157	208326157	Human	1	name
597723889	CV3575978	single nucleotide variant	NM_015040.4(PIKFYVE):c.3847C>T (p.Arg1283Trp)	Inborn genetic diseases [RCV004961845]	uncertain significance	2	208330578	208330578	Human	1	name
597723910	CV3575980	single nucleotide variant	NM_015040.4(PIKFYVE):c.3688A>G (p.Ser1230Gly)	Inborn genetic diseases [RCV004961847]	uncertain significance	2	208328249	208328249	Human	1	name
597723930	CV3575982	single nucleotide variant	NM_015040.4(PIKFYVE):c.5183G>A (p.Arg1728His)	Inborn genetic diseases [RCV004961849]	uncertain significance	2	208346121	208346121	Human	1	name
597723939	CV3575983	single nucleotide variant	NM_015040.4(PIKFYVE):c.5362G>A (p.Val1788Ile)	Inborn genetic diseases [RCV004961850]	likely benign	2	208348011	208348011	Human	1	name
597723953	CV3575985	single nucleotide variant	NM_015040.4(PIKFYVE):c.3832A>G (p.Met1278Val)	Inborn genetic diseases [RCV004961852]	uncertain significance	2	208330563	208330563	Human	1	name
597723961	CV3575986	single nucleotide variant	NM_015040.4(PIKFYVE):c.3452T>A (p.Met1151Lys)	Inborn genetic diseases [RCV004961853]	uncertain significance	2	208326263	208326263	Human	1	name
597723969	CV3575987	single nucleotide variant	NM_015040.4(PIKFYVE):c.5843A>G (p.Gln1948Arg)	Inborn genetic diseases [RCV004961854]	uncertain significance	2	208352781	208352781	Human	1	name
597723976	CV3575988	single nucleotide variant	NM_015040.4(PIKFYVE):c.4061C>T (p.Ala1354Val)	Inborn genetic diseases [RCV004961855]	uncertain significance	2	208333412	208333412	Human	1	name
597724017	CV3575993	single nucleotide variant	NM_015040.4(PIKFYVE):c.4122C>G (p.Asn1374Lys)	Inborn genetic diseases [RCV004961860]	uncertain significance	2	208333473	208333473	Human	1	name
597724027	CV3575994	single nucleotide variant	NM_015040.4(PIKFYVE):c.3172C>T (p.Pro1058Ser)	Inborn genetic diseases [RCV004961861]	uncertain significance	2	208325983	208325983	Human	1	name
597881086	CV3744896	single nucleotide variant	NM_015040.4(PIKFYVE):c.4254A>C (p.Gln1418His)	not provided [RCV005069921]	uncertain significance	2	208335417	208335417	Human		name
598198962	CV3892502	single nucleotide variant	NM_015040.4(PIKFYVE):c.5486A>G (p.Glu1829Gly)	not provided [RCV005254335]	uncertain significance	2	208350822	208350822	Human		name
598272808	CV4006713	single nucleotide variant	NM_015040.4(PIKFYVE):c.5452G>A (p.Ala1818Thr)	Inborn genetic diseases [RCV005389484]	uncertain significance	2	208350788	208350788	Human	1	name
598272839	CV4006724	single nucleotide variant	NM_015040.4(PIKFYVE):c.5482G>A (p.Gly1828Arg)	Inborn genetic diseases [RCV005389494]	uncertain significance	2	208350818	208350818	Human	1	name
598205204	CV4006725	single nucleotide variant	NM_015040.4(PIKFYVE):c.5244A>T (p.Arg1748Ser)	Inborn genetic diseases [RCV005399429]	uncertain significance	2	208347893	208347893	Human	1	name
598209292	CV4007855	single nucleotide variant	NM_015040.4(PIKFYVE):c.3453G>A (p.Met1151Ile)	Fleck corneal dystrophy [RCV005400169]	uncertain significance	2	208326264	208326264	Human	1	name
598209296	CV4007856	single nucleotide variant	NM_015040.4(PIKFYVE):c.5444A>G (p.Asp1815Gly)	Fleck corneal dystrophy [RCV005400170]	uncertain significance	2	208350780	208350780	Human	1	name
13509143	CV481638	single nucleotide variant	NM_015040.4(PIKFYVE):c.4441C>T (p.Gln1481Ter)	not provided [RCV000578987]	likely pathogenic	2	208336121	208336121	Human		name
15193132	CV733093	single nucleotide variant	NM_015040.4(PIKFYVE):c.4157G>A (p.Arg1386Gln)	PIKFYVE-related disorder [RCV003958316]\|not provided [RCV000910753]	likely benign	2	208335320	208335320	Human	1	name , trait , alternate_id
8625276	CV80395	single nucleotide variant	NM_015040.3(PIKFYVE):c.5018T>A (p.Phe1673Tyr)	Malignant melanoma [RCV000060472]	not provided	2	208342640	208342640	Human		name
28885787	CV883559	single nucleotide variant	NM_015040.4(PIKFYVE):c.3804G>C (p.Gln1268His)	Fleck corneal dystrophy [RCV001137611]\|Inborn genetic diseases [RCV003163299]	likely benign\|uncertain significance	2	208330535	208330535	Human	2	name
28885791	CV883560	single nucleotide variant	NM_015040.4(PIKFYVE):c.4156C>T (p.Arg1386Trp)	Fleck corneal dystrophy [RCV001137612]\|not provided [RCV003433022]	benign\|likely benign	2	208335319	208335319	Human	1	name
28892625	CV883561	single nucleotide variant	NM_015040.4(PIKFYVE):c.4559G>T (p.Arg1520Ile)	Fleck corneal dystrophy [RCV001139837]	uncertain significance	2	208336876	208336876	Human	1	name
28892629	CV883562	single nucleotide variant	NM_015040.4(PIKFYVE):c.4567G>A (p.Val1523Ile)	Fleck corneal dystrophy [RCV001139838]\|Inborn genetic diseases [RCV004960485]	uncertain significance	2	208336884	208336884	Human	2	name
28892635	CV883564	single nucleotide variant	NM_015040.4(PIKFYVE):c.4607G>A (p.Ser1536Asn)	Fleck corneal dystrophy [RCV001139840]	uncertain significance	2	208336924	208336924	Human	1	name
28894763	CV883565	single nucleotide variant	NM_015040.4(PIKFYVE):c.4640A>G (p.Asn1547Ser)	Fleck corneal dystrophy [RCV001140622]	uncertain significance	2	208338536	208338536	Human	1	name
28899748	CV883567	single nucleotide variant	NM_015040.4(PIKFYVE):c.5137A>G (p.Ser1713Gly)	Fleck corneal dystrophy [RCV001142484]\|Inborn genetic diseases [RCV004960489]	likely benign\|uncertain significance	2	208346075	208346075	Human	2	name
28899750	CV883568	single nucleotide variant	NM_015040.4(PIKFYVE):c.5296C>T (p.Arg1766Cys)	Fleck corneal dystrophy [RCV001142485]	uncertain significance	2	208347945	208347945	Human	1	name
11652552	CV284367	insertion	NM_015040.4(PIKFYVE):c.3099_3100insGTTTTTTTT	Fleck corneal dystrophy [RCV000305804]	uncertain significance	2	208358399	208358400	Human	1	name
38483229	CV931084	microsatellite	NM_015040.4(PIKFYVE):c.853_854del (p.Leu285fs)	not provided [RCV001207567]	pathogenic	2	208288758	208288759	Human		name
156341910	CV2127617	microsatellite	NM_015040.4(PIKFYVE):c.3096CTC[1] (p.Ser1034del)	not provided [RCV002938944]	uncertain significance	2	208325906	208325908	Human		name
150543304	CV1315176	deletion	NM_015040.4(PIKFYVE):c.4308_4309del (p.Asp1437fs)	Fleck corneal dystrophy [RCV001782633]	likely pathogenic	2	208335844	208335845	Human		name
8571236	CV51092	deletion	NM_015040.4(PIKFYVE):c.4167_4170del (p.Glu1389fs)	Fleck corneal dystrophy [RCV000034837]	pathogenic	2	208335329	208335332	Human	1	name
11049639	CV224981	deletion	NM_015040.3(PIKFYVE):c.2008_2190del (p.Ile670_Gln730del)	Fleck corneal dystrophy [RCV000208999]	pathogenic				Human	1	name

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