ClinVar for MedGen (Select 287065) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3367109	NM_015040.4(PIKFYVE):c.4142+1del	PIKFYVE	Deletion (splice donor variant)	Fleck corneal dystrophy	GLikely pathogenic
Select item 3362368	NM_015040.4(PIKFYVE):c.577A>G (p.Asn193Asp)	PIKFYVE (N193D)	Single nucleotide variant (missense variant +1 more)	Fleck corneal dystrophy	GUncertain significance
Select item 1723222	NM_015040.4(PIKFYVE):c.904C>T (p.Arg302Ter)	PIKFYVE (R302* +1 more)	Single nucleotide variant (nonsense)	Fleck corneal dystrophy	GLikely pathogenic
Select item 1327038	NM_015040.4(PIKFYVE):c.5435-47A>G	PIKFYVE	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1327036	NM_015040.4(PIKFYVE):c.1321-42C>T	PIKFYVE	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1324912	NM_015040.4(PIKFYVE):c.935C>G (p.Ser312Ter)	PIKFYVE (S215* +1 more)	Single nucleotide variant (nonsense)	Fleck corneal dystrophy	GLikely pathogenic
Select item 1300208	NM_015040.4(PIKFYVE):c.4511G>A (p.Trp1504Ter)	PIKFYVE (W1504*)	Single nucleotide variant (nonsense)	Fleck corneal dystrophy	GPathogenic
Select item 1300207	NM_015040.4(PIKFYVE):c.2344C>T (p.Arg782Ter)	PIKFYVE (R782*)	Single nucleotide variant (nonsense)	Fleck corneal dystrophy	GPathogenic
Select item 898681	NM_015040.4(PIKFYVE):c.*1624A>T	PIKFYVE	Single nucleotide variant (3 prime UTR variant)	Fleck corneal dystrophy	GUncertain significance
Select item 898680	NM_015040.4(PIKFYVE):c.*1621A>G	PIKFYVE	Single nucleotide variant (3 prime UTR variant)	Fleck corneal dystrophy	GUncertain significance
Select item 898618	NM_015040.4(PIKFYVE):c.*519G>A	PIKFYVE	Single nucleotide variant (3 prime UTR variant)	Fleck corneal dystrophy	GUncertain significance
Select item 898617	NM_015040.4(PIKFYVE):c.*518C>T	PIKFYVE	Single nucleotide variant (3 prime UTR variant)	Fleck corneal dystrophy	GUncertain significance
Select item 898558	NM_015040.4(PIKFYVE):c.5296C>T (p.Arg1766Cys)	PIKFYVE (R1766C)	Single nucleotide variant (missense variant)	Fleck corneal dystrophy	GUncertain significance
Select item 898557	NM_015040.4(PIKFYVE):c.5137A>G (p.Ser1713Gly)	PIKFYVE (S1713G)	Single nucleotide variant (missense variant)	Fleck corneal dystrophy +1 more	GConflicting classifications of pathogenicity
Select item 898556	NM_015040.4(PIKFYVE):c.5088C>T (p.Ala1696=)	PIKFYVE	Single nucleotide variant (synonymous variant)	Fleck corneal dystrophy	GUncertain significance
Select item 898420	NM_015040.4(PIKFYVE):c.1954G>A (p.Val652Ile)	PIKFYVE (V652I)	Single nucleotide variant (missense variant)	Fleck corneal dystrophy +1 more	GBenign
Select item 898419	NM_015040.4(PIKFYVE):c.1746C>T (p.Phe582=)	PIKFYVE	Single nucleotide variant (synonymous variant)	Fleck corneal dystrophy	GUncertain significance
Select item 897585	NM_015040.4(PIKFYVE):c.*3100T>G	PIKFYVE	Single nucleotide variant (3 prime UTR variant)	Fleck corneal dystrophy	GBenign
Select item 897584	NM_015040.4(PIKFYVE):c.*3074A>C	PIKFYVE	Single nucleotide variant (3 prime UTR variant)	Fleck corneal dystrophy	GUncertain significance
Select item 897583	NM_015040.4(PIKFYVE):c.*2861C>G	PIKFYVE	Single nucleotide variant (3 prime UTR variant)	Fleck corneal dystrophy	GUncertain significance
Select item 897527	NM_015040.4(PIKFYVE):c.*1552G>A	PIKFYVE	Single nucleotide variant (3 prime UTR variant)	Fleck corneal dystrophy	GUncertain significance
Select item 897526	NM_015040.4(PIKFYVE):c.*1382T>C	PIKFYVE	Single nucleotide variant (3 prime UTR variant)	Fleck corneal dystrophy	GUncertain significance
Select item 897525	NM_015040.4(PIKFYVE):c.*1358C>T	PIKFYVE	Single nucleotide variant (3 prime UTR variant)	Fleck corneal dystrophy	GUncertain significance
Select item 897457	NM_015040.4(PIKFYVE):c.*492T>A	PIKFYVE	Single nucleotide variant (3 prime UTR variant)	Fleck corneal dystrophy	GUncertain significance
Select item 897456	NM_015040.4(PIKFYVE):c.*210G>A	PIKFYVE	Single nucleotide variant (3 prime UTR variant)	Fleck corneal dystrophy +1 more	GBenign
Select item 897401	NM_015040.4(PIKFYVE):c.4932-13A>C	PIKFYVE	Single nucleotide variant (intron variant)	Fleck corneal dystrophy	GBenign
Select item 897400	NM_015040.4(PIKFYVE):c.4811-9T>C	PIKFYVE	Single nucleotide variant (intron variant)	Fleck corneal dystrophy	GBenign
Select item 897399	NM_015040.4(PIKFYVE):c.4640A>G (p.Asn1547Ser)	PIKFYVE (N1547S)	Single nucleotide variant (missense variant)	Fleck corneal dystrophy	GUncertain significance
Select item 897323	NM_015040.4(PIKFYVE):c.2954A>G (p.Asp985Gly)	PIKFYVE (D985G)	Single nucleotide variant (missense variant)	Fleck corneal dystrophy	GUncertain significance
Select item 897322	NM_015040.4(PIKFYVE):c.2881A>G (p.Thr961Ala)	PIKFYVE (T961A)	Single nucleotide variant (missense variant)	Fleck corneal dystrophy	GBenign
Select item 897321	NM_015040.4(PIKFYVE):c.2873A>T (p.His958Leu)	PIKFYVE (H958L)	Single nucleotide variant (missense variant)	Fleck corneal dystrophy	GUncertain significance
Select item 897243	NM_015040.4(PIKFYVE):c.1711C>T (p.Arg571Cys)	PIKFYVE (R571C)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 897242	NM_015040.4(PIKFYVE):c.1468+15C>T	PIKFYVE	Single nucleotide variant (intron variant)	Fleck corneal dystrophy	GLikely benign
Select item 897241	NM_015040.4(PIKFYVE):c.1320+4C>T	PIKFYVE	Single nucleotide variant (intron variant)	Fleck corneal dystrophy	GUncertain significance
Select item 897240	NM_015040.4(PIKFYVE):c.1140G>A (p.Thr380=)	PIKFYVE	Single nucleotide variant (synonymous variant)	Fleck corneal dystrophy	GUncertain significance
Select item 897239	NM_015040.4(PIKFYVE):c.308G>A (p.Arg103His)	PIKFYVE (R103H)	Single nucleotide variant (missense variant)	Fleck corneal dystrophy	GUncertain significance
Select item 897044	NM_015040.4(PIKFYVE):c.*968G>T	PIKFYVE	Single nucleotide variant (3 prime UTR variant)	Fleck corneal dystrophy	GUncertain significance
Select item 896975	NM_015040.4(PIKFYVE):c.6243C>T (p.Asp2081=)	PIKFYVE	Single nucleotide variant (synonymous variant)	Fleck corneal dystrophy	GLikely benign
Select item 896974	NM_015040.4(PIKFYVE):c.6165A>C (p.Gly2055=)	PIKFYVE	Single nucleotide variant (synonymous variant)	Fleck corneal dystrophy	GUncertain significance
Select item 896973	NM_015040.4(PIKFYVE):c.6060G>A (p.Leu2020=)	PIKFYVE	Single nucleotide variant (synonymous variant)	Fleck corneal dystrophy +1 more	GBenign
Select item 896972	NM_015040.4(PIKFYVE):c.5716-4T>C	PIKFYVE	Single nucleotide variant (intron variant)	Fleck corneal dystrophy	GUncertain significance
Select item 896895	NM_015040.4(PIKFYVE):c.4607G>A (p.Ser1536Asn)	PIKFYVE (S1536N)	Single nucleotide variant (missense variant)	Fleck corneal dystrophy	GUncertain significance
Select item 896894	NM_015040.4(PIKFYVE):c.4585A>C (p.Arg1529=)	PIKFYVE	Single nucleotide variant (synonymous variant)	Fleck corneal dystrophy	GBenign
Select item 896893	NM_015040.4(PIKFYVE):c.4567G>A (p.Val1523Ile)	PIKFYVE (V1523I)	Single nucleotide variant (missense variant)	Fleck corneal dystrophy +1 more	GUncertain significance
Select item 896892	NM_015040.4(PIKFYVE):c.4559G>T (p.Arg1520Ile)	PIKFYVE (R1520I)	Single nucleotide variant (missense variant)	Fleck corneal dystrophy	GUncertain significance
Select item 896827	NM_015040.4(PIKFYVE):c.2733C>T (p.Ile911=)	PIKFYVE	Single nucleotide variant (synonymous variant)	Fleck corneal dystrophy	GUncertain significance
Select item 896826	NM_015040.4(PIKFYVE):c.2641C>A (p.Pro881Thr)	PIKFYVE (P881T)	Single nucleotide variant (missense variant)	Fleck corneal dystrophy	GUncertain significance
Select item 896825	NM_015040.4(PIKFYVE):c.2459-10T>C	PIKFYVE	Single nucleotide variant (intron variant)	Fleck corneal dystrophy +1 more	GLikely benign
Select item 896824	NM_015040.4(PIKFYVE):c.2458+10C>G	PIKFYVE	Single nucleotide variant (intron variant)	Fleck corneal dystrophy	GUncertain significance
Select item 896769	NM_015040.4(PIKFYVE):c.235C>A (p.Leu79Ile)	PIKFYVE (L79I)	Single nucleotide variant (missense variant)	Fleck corneal dystrophy	GUncertain significance
Select item 896768	NM_015040.4(PIKFYVE):c.25C>T (p.Pro9Ser)	PIKFYVE (P9S)	Single nucleotide variant (missense variant)	Fleck corneal dystrophy	GUncertain significance
Select item 895982	NM_015040.4(PIKFYVE):c.*2763C>T	PIKFYVE	Single nucleotide variant (3 prime UTR variant)	Fleck corneal dystrophy	GUncertain significance
Select item 895981	NM_015040.4(PIKFYVE):c.*2739A>C	PIKFYVE	Single nucleotide variant (3 prime UTR variant)	Fleck corneal dystrophy	GUncertain significance
Select item 895980	NM_015040.4(PIKFYVE):c.*2520T>C	PIKFYVE	Single nucleotide variant (3 prime UTR variant)	Fleck corneal dystrophy	GUncertain significance
Select item 895979	NM_015040.4(PIKFYVE):c.*2520T>A	PIKFYVE	Single nucleotide variant (3 prime UTR variant)	Fleck corneal dystrophy	GUncertain significance
Select item 895698	NM_015040.4(PIKFYVE):c.*2238A>G	PIKFYVE	Single nucleotide variant (3 prime UTR variant)	Fleck corneal dystrophy	GUncertain significance
Select item 895697	NM_015040.4(PIKFYVE):c.*2030G>C	PIKFYVE	Single nucleotide variant (3 prime UTR variant)	Fleck corneal dystrophy	GUncertain significance
Select item 895631	NM_015040.4(PIKFYVE):c.*868T>C	PIKFYVE	Single nucleotide variant (3 prime UTR variant)	Fleck corneal dystrophy	GUncertain significance
Select item 895630	NM_015040.4(PIKFYVE):c.*814T>G	PIKFYVE	Single nucleotide variant (3 prime UTR variant)	Fleck corneal dystrophy	GUncertain significance
Select item 895568	NM_015040.4(PIKFYVE):c.5434+12A>T	PIKFYVE	Single nucleotide variant (intron variant)	Fleck corneal dystrophy	GBenign
Select item 895489	NM_015040.4(PIKFYVE):c.4156C>T (p.Arg1386Trp)	PIKFYVE (R1386W)	Single nucleotide variant (missense variant)	Fleck corneal dystrophy +1 more	GBenign/Likely benign
Select item 895488	NM_015040.4(PIKFYVE):c.3804G>C (p.Gln1268His)	PIKFYVE (Q1268H)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 895487	NM_015040.4(PIKFYVE):c.3719+14C>A	PIKFYVE	Single nucleotide variant (intron variant)	Fleck corneal dystrophy	GBenign
Select item 895486	NM_015040.4(PIKFYVE):c.3459C>T (p.Ala1153=)	PIKFYVE	Single nucleotide variant (synonymous variant)	Fleck corneal dystrophy	GBenign
Select item 895429	NM_015040.4(PIKFYVE):c.2191-6A>T	PIKFYVE	Single nucleotide variant (intron variant)	Fleck corneal dystrophy	GBenign
Select item 895428	NM_015040.4(PIKFYVE):c.2016T>G (p.Gly672=)	PIKFYVE	Single nucleotide variant (synonymous variant)	Fleck corneal dystrophy	GBenign
Select item 895357	NM_015040.4(PIKFYVE):c.-134C>T	LOC129935518, PIKFYVE	Single nucleotide variant (5 prime UTR variant)	Fleck corneal dystrophy	GBenign
Select item 895356	NM_015040.4(PIKFYVE):c.-153A>T	LOC129935518, PIKFYVE	Single nucleotide variant (5 prime UTR variant)	Fleck corneal dystrophy	GUncertain significance
Select item 772857	NM_015040.4(PIKFYVE):c.1206A>G (p.Thr402=)	PIKFYVE	Single nucleotide variant (synonymous variant)	Fleck corneal dystrophy +1 more	GLikely benign
Select item 632338	NM_015040.4(PIKFYVE):c.2959C>T (p.Gln987Ter)	PIKFYVE (Q987*)	Single nucleotide variant (nonsense)	Fleck corneal dystrophy	GUncertain significance
Select item 369327	NM_015040.4(PIKFYVE):c.-160A>G	PIKFYVE	Single nucleotide variant (5 prime UTR variant)	Fleck corneal dystrophy +1 more	GBenign
Select item 369326	NM_015040.4(PIKFYVE):c.-166A>T	PIKFYVE	Single nucleotide variant (5 prime UTR variant)	Fleck corneal dystrophy	GLikely benign
Select item 333984	NM_015040.4(PIKFYVE):c.*3329G>T	PIKFYVE	Single nucleotide variant (3 prime UTR variant)	Fleck corneal dystrophy	GUncertain significance
Select item 333983	NM_015040.4(PIKFYVE):c.*3324A>G	PIKFYVE	Single nucleotide variant (3 prime UTR variant)	Fleck corneal dystrophy	GBenign
Select item 333982	NM_015040.4(PIKFYVE):c.*3304TGTAT[1]	PIKFYVE	Microsatellite (3 prime UTR variant)	Fleck corneal dystrophy	GBenign
Select item 333981	NM_015040.4(PIKFYVE):c.*3186A>T	PIKFYVE	Single nucleotide variant (3 prime UTR variant)	Fleck corneal dystrophy	GUncertain significance
Select item 333980	NM_015040.4(PIKFYVE):c.3099_3100insGTT	PIKFYVE	Insertion (3 prime UTR variant)	Fleck corneal dystrophy	GUncertain significance
Select item 333979	NM_015040.4(PIKFYVE):c.3099_3100insGTTTTTTTT	PIKFYVE	Insertion (3 prime UTR variant)	Fleck corneal dystrophy	GUncertain significance
Select item 333978	NM_015040.4(PIKFYVE):c.3102_3104dup	PIKFYVE	Duplication (3 prime UTR variant)	Fleck corneal dystrophy	GBenign
Select item 333977	NM_015040.4(PIKFYVE):c.*3027A>C	PIKFYVE	Single nucleotide variant (3 prime UTR variant)	Fleck corneal dystrophy	GUncertain significance
Select item 333976	NM_015040.4(PIKFYVE):c.*2738A>G	PIKFYVE	Single nucleotide variant (3 prime UTR variant)	Fleck corneal dystrophy	GBenign
Select item 333975	NM_015040.4(PIKFYVE):c.*2693A>G	PIKFYVE	Single nucleotide variant (3 prime UTR variant)	Fleck corneal dystrophy	GBenign
Select item 333974	NM_015040.4(PIKFYVE):c.*2549G>A	PIKFYVE	Single nucleotide variant (3 prime UTR variant)	Fleck corneal dystrophy	GBenign
Select item 333973	NM_015040.4(PIKFYVE):c.*2548C>T	PIKFYVE	Single nucleotide variant (3 prime UTR variant)	Fleck corneal dystrophy	GUncertain significance
Select item 333972	NM_015040.4(PIKFYVE):c.*2495A>G	PIKFYVE	Single nucleotide variant (3 prime UTR variant)	Fleck corneal dystrophy	GUncertain significance
Select item 333971	NM_015040.4(PIKFYVE):c.*2281del	PIKFYVE	Deletion (3 prime UTR variant)	Fleck corneal dystrophy	GBenign
Select item 333970	NM_015040.4(PIKFYVE):c.*2247A>G	PIKFYVE	Single nucleotide variant (3 prime UTR variant)	Fleck corneal dystrophy	GBenign
Select item 333969	NM_015040.4(PIKFYVE):c.*2218A>T	PIKFYVE	Single nucleotide variant (3 prime UTR variant)	Fleck corneal dystrophy	GUncertain significance
Select item 333968	NM_015040.4(PIKFYVE):c.*2185C>G	PIKFYVE	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign
Select item 333967	NM_015040.4(PIKFYVE):c.*2173C>T	PIKFYVE	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign
Select item 333966	NM_015040.4(PIKFYVE):c.*2143G>C	PIKFYVE	Single nucleotide variant (3 prime UTR variant)	Fleck corneal dystrophy	GBenign
Select item 333965	NM_015040.4(PIKFYVE):c.*2027C>T	PIKFYVE	Single nucleotide variant (3 prime UTR variant)	Fleck corneal dystrophy	GUncertain significance
Select item 333964	NM_015040.4(PIKFYVE):c.*1978T>C	PIKFYVE	Single nucleotide variant (3 prime UTR variant)	Fleck corneal dystrophy +1 more	GBenign
Select item 333963	NM_015040.4(PIKFYVE):c.1973_1974insA	PIKFYVE	Insertion (3 prime UTR variant)	Fleck corneal dystrophy	GLikely benign
Select item 333962	NM_015040.4(PIKFYVE):c.*1938G>C	PIKFYVE	Single nucleotide variant (3 prime UTR variant)	Fleck corneal dystrophy	GBenign
Select item 333961	NM_015040.4(PIKFYVE):c.*1923A>G	PIKFYVE	Single nucleotide variant (3 prime UTR variant)	Fleck corneal dystrophy	GBenign
Select item 333960	NM_015040.4(PIKFYVE):c.*1826A>G	PIKFYVE	Single nucleotide variant (3 prime UTR variant)	Fleck corneal dystrophy	GUncertain significance
Select item 333959	NM_015040.4(PIKFYVE):c.*1638del	PIKFYVE	Deletion (3 prime UTR variant)	Fleck corneal dystrophy	GUncertain significance
Select item 333958	NM_015040.4(PIKFYVE):c.*1499T>G	PIKFYVE	Single nucleotide variant (3 prime UTR variant)	Fleck corneal dystrophy	GBenign
Select item 333957	NM_015040.4(PIKFYVE):c.*1429G>C	PIKFYVE	Single nucleotide variant (3 prime UTR variant)	Fleck corneal dystrophy	GUncertain significance

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