PIKFYVE[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 150620	GRCh38/hg38 2q31.3-36.2(chr2:180513793-224302848)x3	INPP1, ITGA4 +1097 more	Copy number gain	See cases	GPathogenic
Select item 59158	GRCh38/hg38 2q32.2-37.3(chr2:188818195-242065208)x3	AAMP, ABCA12 +1703 more	Copy number gain	See cases	GPathogenic
Select item 154206	GRCh38/hg38 2q32.2-37.3(chr2:189436149-241841232)x3	LOC129935343, LOC129935344 +1687 more	Copy number gain	See cases	GPathogenic
Select item 59159	GRCh38/hg38 2q32.2-37.3(chr2:190310736-241892770)x3	AAMP, ABCA12 +1665 more	Copy number gain	See cases	GPathogenic
Select item 152738	GRCh38/hg38 2q32.3-35(chr2:192938826-215705052)x1	ABCA12, ABI2 +509 more	Copy number loss	See cases	GPathogenic
Select item 57419	GRCh38/hg38 2q32.3-37.3(chr2:194898783-236473913)x3	LOC129935480, LOC129935481 +1299 more	Copy number gain	See cases	GPathogenic
Select item 155234	GRCh38/hg38 2q33.1-34(chr2:199937273-210031924)x1	ABI2, ADAM23 +298 more	Copy number loss	See cases	GPathogenic
Select item 152538	GRCh38/hg38 2q33.1-34(chr2:199946494-209985195)x1	ABI2, ADAM23 +293 more	Copy number loss	See cases	GPathogenic
Select item 150829	GRCh38/hg38 2q33.3-34(chr2:204906843-210031449)x1	ADAM23, C2orf80 +131 more	Copy number loss	See cases	GPathogenic
Select item 150477	GRCh38/hg38 2q33.3-34(chr2:207058886-211245603)x1	ACADL, C2orf80 +96 more	Copy number loss	See cases	GPathogenic
Select item 147983	GRCh38/hg38 2q33.3-34(chr2:207949648-208438066)x1	C2orf80, CRYGA +17 more	Copy number loss	See cases	GUncertain significance
Select item 58819	GRCh38/hg38 2q33.3-34(chr2:208179265-209331482)x1	C2orf80, IDH1 +11 more	Copy number loss	See cases	GPathogenic
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 369327	NM_015040.4(PIKFYVE):c.-160A>G	PIKFYVE	Single nucleotide variant (5 prime UTR variant)	Fleck corneal dystrophy	GBenign
Select item 333881	NM_015040.4(PIKFYVE):c.-157A>T	PIKFYVE	Single nucleotide variant (5 prime UTR variant)	Fleck corneal dystrophy	GUncertain significance
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 895357	NM_015040.4(PIKFYVE):c.-134C>T	LOC129935518, PIKFYVE	Single nucleotide variant (5 prime UTR variant)	Fleck corneal dystrophy	GBenign
Select item 333882	NM_015040.4(PIKFYVE):c.-10+5G>A	LOC129935518, PIKFYVE	Single nucleotide variant (intron variant)	Fleck corneal dystrophy	GLikely benign
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 896768	NM_015040.4(PIKFYVE):c.25C>T (p.Pro9Ser)	PIKFYVE (P9S)	Single nucleotide variant (missense variant)	Fleck corneal dystrophy	GUncertain significance
Select item 333883	NM_015040.4(PIKFYVE):c.37T>C (p.Ser13Pro)	PIKFYVE (S13P)	Single nucleotide variant (missense variant)	Fleck corneal dystrophy	GUncertain significance
Select item 1958297	NM_015040.4(PIKFYVE):c.54T>A (p.Pro18=)	PIKFYVE	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 333884	NM_015040.4(PIKFYVE):c.64A>C (p.Thr22Pro)	PIKFYVE (T22P)	Single nucleotide variant (missense variant)	Fleck corneal dystrophy +1 more	GConflicting classifications of pathogenicity
Select item 333885	NM_015040.4(PIKFYVE):c.173-11C>T	PIKFYVE	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
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 716300	NM_015040.4(PIKFYVE):c.233A>T (p.Gln78Leu)	PIKFYVE (Q78L)	Single nucleotide variant (missense variant)	not provided	GBenign
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 1943962	NM_015040.4(PIKFYVE):c.242C>T (p.Ser81Leu)	PIKFYVE (S81L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 333886	NM_015040.4(PIKFYVE):c.279A>G (p.Lys93=)	PIKFYVE	Single nucleotide variant (synonymous variant)	Fleck corneal dystrophy +1 more	GBenign
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 333887	NM_015040.4(PIKFYVE):c.307C>T (p.Arg103Cys)	PIKFYVE (R103C)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	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 841625	NM_015040.4(PIKFYVE):c.322+1G>A	PIKFYVE	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
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 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 3213056	NM_015040.4(PIKFYVE):c.625G>T (p.Ala209Ser)	PIKFYVE (A209S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3306650	NM_015040.4(PIKFYVE):c.718G>A (p.Ala240Thr)	PIKFYVE (A240T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3213057	NM_015040.4(PIKFYVE):c.727G>C (p.Val243Leu)	PIKFYVE (V243L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2651851	NM_015040.4(PIKFYVE):c.747T>C (p.Ser249=)	PIKFYVE	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3213058	NM_015040.4(PIKFYVE):c.784C>T (p.Arg262Cys)	PIKFYVE (R262C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 938366	NM_015040.4(PIKFYVE):c.853_854del (p.Leu285fs)	PIKFYVE (L285fs +1 more)	Microsatellite (frameshift variant)	not provided	GPathogenic
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 3213059	NM_015040.4(PIKFYVE):c.893A>G (p.Lys298Arg)	PIKFYVE (K201R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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 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 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 2628581	NM_015040.4(PIKFYVE):c.1031del (p.Asp344fs)	PIKFYVE (D247fs +1 more)	Deletion (frameshift variant)	PIKFYVE-related disorder	GLikely pathogenic
Select item 333888	NM_015040.4(PIKFYVE):c.1051-10G>T	PIKFYVE	Single nucleotide variant (intron variant)	Fleck corneal dystrophy	GBenign
Select item 798858	NM_015040.4(PIKFYVE):c.1051-4G>T	PIKFYVE	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3213035	NM_015040.4(PIKFYVE):c.1067A>T (p.Lys356Ile)	PIKFYVE (K356I +1 more)	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 897240	NM_015040.4(PIKFYVE):c.1140G>A (p.Thr380=)	PIKFYVE	Single nucleotide variant (synonymous variant)	Fleck corneal dystrophy	GUncertain significance
Select item 3306651	NM_015040.4(PIKFYVE):c.1154T>C (p.Ile385Thr)	PIKFYVE (I288T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 772857	NM_015040.4(PIKFYVE):c.1206A>G (p.Thr402=)	PIKFYVE	Single nucleotide variant (synonymous variant)	Fleck corneal dystrophy +2 more	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 3213036	NM_015040.4(PIKFYVE):c.1228G>A (p.Gly410Arg)	PIKFYVE (G313R +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 2651852	NM_015040.4(PIKFYVE):c.1275C>T (p.His425=)	PIKFYVE	Single nucleotide variant (synonymous variant)	not provided	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 897241	NM_015040.4(PIKFYVE):c.1320+4C>T	PIKFYVE	Single nucleotide variant (intron variant)	Fleck corneal dystrophy	GUncertain significance
Select item 1327036	NM_015040.4(PIKFYVE):c.1321-42C>T	PIKFYVE	Single nucleotide variant (intron variant)	Fleck corneal dystrophy	GBenign
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 773565	NM_015040.4(PIKFYVE):c.1348C>T (p.Pro450Ser)	PIKFYVE (P353S +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 897242	NM_015040.4(PIKFYVE):c.1468+15C>T	PIKFYVE	Single nucleotide variant (intron variant)	Fleck corneal dystrophy	GLikely benign
Select item 2630113	NM_015040.4(PIKFYVE):c.1510C>T (p.Gln504Ter)	PIKFYVE (Q407* +1 more)	Single nucleotide variant (nonsense)	PIKFYVE-related disorder	GLikely pathogenic
Select item 333889	NM_015040.4(PIKFYVE):c.1522G>C (p.Asp508His)	PIKFYVE (D508H +1 more)	Single nucleotide variant (missense variant)	Fleck corneal dystrophy	GUncertain significance
Select item 333890	NM_015040.4(PIKFYVE):c.1621C>A (p.Pro541Thr)	PIKFYVE (P541T +1 more)	Single nucleotide variant (missense variant)	Fleck corneal dystrophy	GUncertain significance
Select item 1987579	NM_015040.4(PIKFYVE):c.1637-17G>A	PIKFYVE	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 897243	NM_015040.4(PIKFYVE):c.1711C>T (p.Arg571Cys)	PIKFYVE (R571C)	Single nucleotide variant (missense variant)	Fleck corneal dystrophy +1 more	GUncertain significance
Select item 333891	NM_015040.4(PIKFYVE):c.1715G>A (p.Arg572Gln)	PIKFYVE (R572Q)	Single nucleotide variant (missense variant)	PIKFYVE-related disorder +2 more	GBenign/Likely benign
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 333892	NM_015040.4(PIKFYVE):c.1770C>T (p.Asn590=)	PIKFYVE	Single nucleotide variant (synonymous variant)	Fleck corneal dystrophy +1 more	GBenign
Select item 333893	NM_015040.4(PIKFYVE):c.1849A>G (p.Met617Val)	PIKFYVE (M617V)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 3052575	NM_015040.4(PIKFYVE):c.1908C>T (p.Ile636=)	PIKFYVE	Single nucleotide variant (synonymous variant)	PIKFYVE-related disorder	GLikely benign
Select item 3051607	NM_015040.4(PIKFYVE):c.1917A>G (p.Ser639=)	PIKFYVE	Single nucleotide variant (synonymous variant)	PIKFYVE-related disorder	GLikely benign
Select item 333894	NM_015040.4(PIKFYVE):c.1928A>G (p.Gln643Arg)	PIKFYVE (Q643R)	Single nucleotide variant (missense variant)	Fleck corneal dystrophy	GUncertain significance
Select item 333895	NM_015040.4(PIKFYVE):c.1946G>A (p.Arg649Gln)	PIKFYVE (R649Q)	Single nucleotide variant (missense variant)	Fleck corneal dystrophy +1 more	GConflicting classifications of pathogenicity
Select item 898420	NM_015040.4(PIKFYVE):c.1954G>A (p.Val652Ile)	PIKFYVE (V652I)	Single nucleotide variant (missense variant)	Fleck corneal dystrophy	GBenign
Select item 1702675	NM_015040.4(PIKFYVE):c.1958A>G (p.Lys653Arg)	PIKFYVE (K653R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 333896	NM_015040.4(PIKFYVE):c.1983C>A (p.Ile661=)	PIKFYVE	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
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 895428	NM_015040.4(PIKFYVE):c.2016T>G (p.Gly672=)	PIKFYVE	Single nucleotide variant (synonymous variant)	Fleck corneal dystrophy	GBenign
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 2833757	NM_015040.4(PIKFYVE):c.2082+6G>A	PIKFYVE	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1987013	NM_015040.4(PIKFYVE):c.2082+22_2082+34del	PIKFYVE	Deletion (intron variant)	not provided	GBenign
Select item 3213037	NM_015040.4(PIKFYVE):c.2083A>G (p.Met695Val)	PIKFYVE (M695V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 333897	NM_015040.4(PIKFYVE):c.2087G>A (p.Ser696Asn)	PIKFYVE (S696N)	Single nucleotide variant (missense variant)	Fleck corneal dystrophy +1 more	GBenign
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 333898	NM_015040.4(PIKFYVE):c.2106C>T (p.Pro702=)	PIKFYVE	Single nucleotide variant (synonymous variant)	Fleck corneal dystrophy +1 more	GBenign
Select item 333899	NM_015040.4(PIKFYVE):c.2164A>G (p.Thr722Ala)	PIKFYVE (T722A)	Single nucleotide variant (missense variant)	Fleck corneal dystrophy	GBenign
Select item 3213038	NM_015040.4(PIKFYVE):c.2170A>G (p.Ile724Val)	PIKFYVE (I724V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 716301	NM_015040.4(PIKFYVE):c.2184G>A (p.Val728=)	PIKFYVE	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 333900	NM_015040.4(PIKFYVE):c.2191-15A>T	PIKFYVE	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 2713256	NM_015040.4(PIKFYVE):c.2191-10_2191-6del	PIKFYVE	Deletion (intron variant)	not provided	GBenign
Select item 895429	NM_015040.4(PIKFYVE):c.2191-6A>T	PIKFYVE	Single nucleotide variant (intron variant)	Fleck corneal dystrophy	GBenign
Select item 333901	NM_015040.4(PIKFYVE):c.2331+12T>A	PIKFYVE	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 2958582	NM_015040.4(PIKFYVE):c.2332-20A>C	PIKFYVE	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1300207	NM_015040.4(PIKFYVE):c.2344C>T (p.Arg782Ter)	PIKFYVE (R782*)	Single nucleotide variant (nonsense)	Fleck corneal dystrophy	GPathogenic
Select item 2471493	NM_015040.4(PIKFYVE):c.2345G>A (p.Arg782Gln)	PIKFYVE (R782Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance

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