ClinVar for Gene (Select 200576) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3062601	GRCh37/hg19 2q33.3-34(chr2:208965515-209383510)x3	C2orf80, CRYGA +6 more	Copy number gain	not specified	GUncertain significance
Select item 3062594	GRCh37/hg19 2q32.3-34(chr2:194305623-215261531)x1	ABI2, ACADL +95 more	Copy number loss	not specified	GPathogenic
Select item 3062536	GRCh37/hg19 2q34(chr2:209188164-209274799)x1	PIKFYVE, PTH2R	Copy number loss	not specified	GUncertain significance
Select item 3062481	GRCh37/hg19 2q33.2-34(chr2:204110688-211638554)x1	ABI2, ACADL +38 more	Copy number loss	not specified	GPathogenic
Select item 3057607	NM_015040.4(PIKFYVE):c.4863G>A (p.Lys1621=)	PIKFYVE	Single nucleotide variant (synonymous variant)	PIKFYVE-related condition	GLikely benign
Select item 3052575	NM_015040.4(PIKFYVE):c.1908C>T (p.Ile636=)	PIKFYVE	Single nucleotide variant (synonymous variant)	PIKFYVE-related condition	GLikely benign
Select item 3051607	NM_015040.4(PIKFYVE):c.1917A>G (p.Ser639=)	PIKFYVE	Single nucleotide variant (synonymous variant)	PIKFYVE-related condition	GLikely benign
Select item 3042499	NM_015040.4(PIKFYVE):c.4257-3T>C	PIKFYVE	Single nucleotide variant (intron variant)	PIKFYVE-related condition	GLikely benign
Select item 3040859	NM_015040.4(PIKFYVE):c.5724G>A (p.Thr1908=)	PIKFYVE	Single nucleotide variant (synonymous variant)	PIKFYVE-related condition	GLikely benign
Select item 3039931	NM_015040.4(PIKFYVE):c.4870A>G (p.Met1624Val)	PIKFYVE (M1624V)	Single nucleotide variant (missense variant)	PIKFYVE-related condition	GBenign
Select item 3035245	NM_015040.4(PIKFYVE):c.3166A>G (p.Ile1056Val)	PIKFYVE (I1056V)	Single nucleotide variant (missense variant)	PIKFYVE-related condition	GLikely benign
Select item 3034420	NM_015040.4(PIKFYVE):c.5844+10T>G	PIKFYVE	Single nucleotide variant (intron variant)	PIKFYVE-related condition	GLikely benign
Select item 3026768	NM_015040.4(PIKFYVE):c.257T>G (p.Val86Gly)	PIKFYVE (V86G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2958788	NM_015040.4(PIKFYVE):c.3357T>C (p.Ser1119=)	PIKFYVE	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2958582	NM_015040.4(PIKFYVE):c.2332-20A>C	PIKFYVE	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2954669	NM_015040.4(PIKFYVE):c.6106+9A>G	PIKFYVE	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2902444	NM_015040.4(PIKFYVE):c.2958C>T (p.Asp986=)	PIKFYVE	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2891638	NM_015040.4(PIKFYVE):c.4633C>G (p.Pro1545Ala)	PIKFYVE (P1545A)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2879912	NM_015040.4(PIKFYVE):c.3618+3G>A	PIKFYVE	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2833757	NM_015040.4(PIKFYVE):c.2082+6G>A	PIKFYVE	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2728180	NM_015040.4(PIKFYVE):c.2045A>G (p.Asn682Ser)	PIKFYVE (N682S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2713422	NM_015040.4(PIKFYVE):c.5435-4A>G	PIKFYVE	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2713256	NM_015040.4(PIKFYVE):c.2191-10_2191-6del	PIKFYVE	Deletion (intron variant)	not provided	GBenign
Select item 2698288	NM_015040.4(PIKFYVE):c.2452C>T (p.Pro818Ser)	PIKFYVE (P818S)	Single nucleotide variant (missense variant)	PIKFYVE-related condition +1 more	GBenign
Select item 2651853	NM_015040.4(PIKFYVE):c.6068G>A (p.Arg2023Gln)	PIKFYVE (R2023Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2651852	NM_015040.4(PIKFYVE):c.1275C>T (p.His425=)	PIKFYVE	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2651851	NM_015040.4(PIKFYVE):c.747T>C (p.Ser249=)	PIKFYVE	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2651850	NM_015040.4(PIKFYVE):c.178G>A (p.Ala60Thr)	PIKFYVE (A60T)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2636706	NM_015040.4(PIKFYVE):c.3112C>T (p.Arg1038Ter)	PIKFYVE (R1038*)	Single nucleotide variant (nonsense)	PIKFYVE-related condition	GPathogenic
Select item 2632925	NM_015040.4(PIKFYVE):c.5682C>G (p.Tyr1894Ter)	PIKFYVE (Y1894*)	Single nucleotide variant (nonsense)	PIKFYVE-related condition	GUncertain significance
Select item 2630113	NM_015040.4(PIKFYVE):c.1510C>T (p.Gln504Ter)	PIKFYVE (Q407* +1 more)	Single nucleotide variant (nonsense)	PIKFYVE-related condition	GLikely pathogenic
Select item 2628581	NM_015040.4(PIKFYVE):c.1031del (p.Asp344fs)	PIKFYVE (D247fs +1 more)	Deletion (frameshift variant)	PIKFYVE-related condition	GLikely pathogenic
Select item 2623542	NM_015040.4(PIKFYVE):c.3641A>G (p.Asn1214Ser)	PIKFYVE (N1214S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2607383	NM_015040.4(PIKFYVE):c.3503A>G (p.Asp1168Gly)	PIKFYVE (D1168G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2603364	NM_015040.4(PIKFYVE):c.4763A>C (p.Gln1588Pro)	PIKFYVE (Q1588P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2600525	NM_015040.4(PIKFYVE):c.3385C>G (p.Pro1129Ala)	PIKFYVE (P1129A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2599910	NM_015040.4(PIKFYVE):c.889G>C (p.Gly297Arg)	PIKFYVE (G200R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2580353	GRCh37/hg19 2q32.1-36.1(chr2:186698504-223918111)x3	AAMP, ABCA12 +208 more	Copy number gain	See cases	GPathogenic
Select item 2575595	NM_015040.4(PIKFYVE):c.4021C>G (p.Leu1341Val)	PIKFYVE (L1341V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2547965	NM_015040.4(PIKFYVE):c.4192T>C (p.Phe1398Leu)	PIKFYVE (F1398L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2532437	NM_015040.4(PIKFYVE):c.5999C>T (p.Thr2000Ile)	PIKFYVE (T2000I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2521543	NM_015040.4(PIKFYVE):c.5218G>C (p.Ala1740Pro)	PIKFYVE (A1740P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2497997	NM_015040.4(PIKFYVE):c.4521G>T (p.Arg1507Ser)	PIKFYVE (R1507S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2495605	NM_015040.4(PIKFYVE):c.5704G>C (p.Val1902Leu)	PIKFYVE (V1902L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2494168	NM_015040.4(PIKFYVE):c.20C>T (p.Thr7Met)	PIKFYVE (T7M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2493332	NM_015040.4(PIKFYVE):c.2095A>G (p.Ile699Val)	PIKFYVE (I699V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2490707	NM_015040.4(PIKFYVE):c.3581G>A (p.Arg1194Lys)	PIKFYVE (R1194K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2472713	NM_015040.4(PIKFYVE):c.4054C>T (p.Arg1352Cys)	PIKFYVE (R1352C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2471493	NM_015040.4(PIKFYVE):c.2345G>A (p.Arg782Gln)	PIKFYVE (R782Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2471338	NM_015040.4(PIKFYVE):c.3341A>G (p.Gln1114Arg)	PIKFYVE (Q1114R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2461245	NM_015040.4(PIKFYVE):c.2719G>A (p.Gly907Ser)	PIKFYVE (G907S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2460319	NM_015040.4(PIKFYVE):c.1219A>G (p.Ile407Val)	PIKFYVE (I310V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2426036	NC_000002.11:g.(?_209136244)_(209220029_?)dup	PIKFYVE	Duplication	not provided	GUncertain significance
Select item 2426035	NC_000002.11:g.(?_208986397)_(209220029_?)del	C2orf80, CRYGA +5 more	Deletion	not provided	GPathogenic
Select item 2410856	NM_015040.4(PIKFYVE):c.3565G>C (p.Glu1189Gln)	PIKFYVE (E1189Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2400613	NM_015040.4(PIKFYVE):c.3907G>A (p.Val1303Ile)	PIKFYVE (V1303I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2387562	NM_015040.4(PIKFYVE):c.3437A>G (p.Gln1146Arg)	PIKFYVE (Q1146R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2386135	NM_015040.4(PIKFYVE):c.4042C>T (p.His1348Tyr)	PIKFYVE (H1348Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2375689	NM_015040.4(PIKFYVE):c.5279A>G (p.Gln1760Arg)	PIKFYVE (Q1760R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2375508	NM_015040.4(PIKFYVE):c.5828G>A (p.Gly1943Glu)	PIKFYVE (G1943E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2372892	NM_015040.4(PIKFYVE):c.4727T>C (p.Leu1576Pro)	PIKFYVE (L1576P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2365680	NM_015040.4(PIKFYVE):c.2834A>G (p.Asn945Ser)	PIKFYVE (N945S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2364929	NM_015040.4(PIKFYVE):c.1275C>G (p.His425Gln)	PIKFYVE (H425Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2360565	NM_015040.4(PIKFYVE):c.2873A>G (p.His958Arg)	PIKFYVE (H958R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2340929	NM_015040.4(PIKFYVE):c.1340C>G (p.Thr447Arg)	PIKFYVE (T350R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2340594	NM_015040.4(PIKFYVE):c.1259A>G (p.Asp420Gly)	PIKFYVE (D420G +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2337647	NM_015040.4(PIKFYVE):c.376G>A (p.Val126Ile)	PIKFYVE (V126I)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2335299	NM_015040.4(PIKFYVE):c.3482G>A (p.Arg1161Lys)	PIKFYVE (R1161K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2331832	NM_015040.4(PIKFYVE):c.1123C>T (p.Arg375Cys)	PIKFYVE (R278C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2326906	NM_015040.4(PIKFYVE):c.2682G>C (p.Glu894Asp)	PIKFYVE (E894D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2322170	NM_015040.4(PIKFYVE):c.5333C>T (p.Thr1778Met)	PIKFYVE (T1778M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2299448	NM_015040.4(PIKFYVE):c.5138G>A (p.Ser1713Asn)	PIKFYVE (S1713N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2295742	NM_015040.4(PIKFYVE):c.5667C>G (p.Asp1889Glu)	PIKFYVE (D1889E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2291649	NM_015040.4(PIKFYVE):c.569G>A (p.Arg190His)	PIKFYVE (R190H)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2287196	NM_015040.4(PIKFYVE):c.4757C>A (p.Ser1586Tyr)	PIKFYVE (S1586Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2286547	NM_015040.4(PIKFYVE):c.2572T>C (p.Phe858Leu)	PIKFYVE (F858L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2261089	NM_015040.4(PIKFYVE):c.3941C>G (p.Ser1314Cys)	PIKFYVE (S1314C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2259077	NM_015040.4(PIKFYVE):c.6010A>G (p.Ser2004Gly)	PIKFYVE (S2004G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2254568	NM_015040.4(PIKFYVE):c.292G>A (p.Glu98Lys)	PIKFYVE (E98K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2249949	NM_015040.4(PIKFYVE):c.3407C>G (p.Thr1136Ser)	PIKFYVE (T1136S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2237153	NM_015040.4(PIKFYVE):c.4681T>C (p.Phe1561Leu)	PIKFYVE (F1561L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2226923	NM_015040.4(PIKFYVE):c.5723C>T (p.Thr1908Met)	PIKFYVE (T1908M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2223854	NM_015040.4(PIKFYVE):c.5837T>C (p.Met1946Thr)	PIKFYVE (M1946T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2214094	NM_015040.4(PIKFYVE):c.2843A>C (p.Gln948Pro)	PIKFYVE (Q948P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2210668	NM_015040.4(PIKFYVE):c.985A>G (p.Ser329Gly)	PIKFYVE (S329G +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2182847	NM_015040.4(PIKFYVE):c.1984C>G (p.Arg662Gly)	PIKFYVE (R662G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2144880	NM_015040.4(PIKFYVE):c.3297G>A (p.Glu1099=)	PIKFYVE	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2120722	NM_015040.4(PIKFYVE):c.4491C>G (p.Leu1497=)	PIKFYVE	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2061050	NM_015040.4(PIKFYVE):c.3096CTC[1] (p.Ser1034del)	PIKFYVE (S1034del)	Microsatellite (inframe_deletion)	not provided	GUncertain significance
Select item 1987579	NM_015040.4(PIKFYVE):c.1637-17G>A	PIKFYVE	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1987475	NM_015040.4(PIKFYVE):c.2459-20_2459-19del	PIKFYVE	Deletion (intron variant)	not provided	GBenign
Select item 1987433	NM_015040.4(PIKFYVE):c.3963+17A>C	PIKFYVE	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1987013	NM_015040.4(PIKFYVE):c.2082+22_2082+34del	PIKFYVE	Deletion (intron variant)	not provided	GBenign
Select item 1958297	NM_015040.4(PIKFYVE):c.54T>A (p.Pro18=)	PIKFYVE	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1952484	NM_015040.4(PIKFYVE):c.4142+10C>A	PIKFYVE	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1943962	NM_015040.4(PIKFYVE):c.242C>T (p.Ser81Leu)	PIKFYVE (S81L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1909112	NM_015040.4(PIKFYVE):c.4160T>G (p.Leu1387Arg)	PIKFYVE (L1387R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1808483	GRCh37/hg19 2q32.2-34(chr2:189909904-209468383)x1	ABI2, ADAM23 +107 more	Copy number loss	not provided	GPathogenic
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 1703543	GRCh37/hg19 2p25.3-q37.3(chr2:1-243199373)	ABCA12, ABCB11 +1216 more	Copy number gain	Mosaic trisomy 2	GPathogenic

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