"Illumina Laboratory Services, Illumina"[submitter] AND "PIKFYVE"[gene - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 333884	NM_015040.4(PIKFYVE):c.64A>C (p.Thr22Pro)	PIKFYVE (T22P)	Single nucleotide variant (missense variant)	Inborn genetic diseases +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 896769	NM_015040.4(PIKFYVE):c.235C>A (p.Leu79Ile)	PIKFYVE (L79I)	Single nucleotide variant (missense variant)	Fleck corneal dystrophy	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 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 333888	NM_015040.4(PIKFYVE):c.1051-10G>T	PIKFYVE	Single nucleotide variant (intron variant)	Fleck corneal dystrophy	GBenign
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 772857	NM_015040.4(PIKFYVE):c.1206A>G (p.Thr402=)	PIKFYVE	Single nucleotide variant (synonymous variant)	PIKFYVE-related condition +2 more	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 897242	NM_015040.4(PIKFYVE):c.1468+15C>T	PIKFYVE	Single nucleotide variant (intron variant)	Fleck corneal dystrophy	GLikely benign
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 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 condition +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 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 333896	NM_015040.4(PIKFYVE):c.1983C>A (p.Ile661=)	PIKFYVE	Single nucleotide variant (synonymous variant)	not provided +1 more	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 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 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 333900	NM_015040.4(PIKFYVE):c.2191-15A>T	PIKFYVE	Single nucleotide variant (intron variant)	not provided +1 more	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 896824	NM_015040.4(PIKFYVE):c.2458+10C>G	PIKFYVE	Single nucleotide variant (intron 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	GLikely benign
Select item 333902	NM_015040.4(PIKFYVE):c.2535T>C (p.Ser845=)	PIKFYVE	Single nucleotide variant (synonymous variant)	PIKFYVE-related condition +2 more	GBenign/Likely benign
Select item 333903	NM_015040.4(PIKFYVE):c.2549C>T (p.Ala850Val)	PIKFYVE (A850V)	Single nucleotide variant (missense variant)	Fleck corneal dystrophy +1 more	GConflicting classifications of pathogenicity
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 333904	NM_015040.4(PIKFYVE):c.2718C>T (p.Tyr906=)	PIKFYVE	Single nucleotide variant (synonymous variant)	Fleck corneal dystrophy +1 more	GBenign
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 333905	NM_015040.4(PIKFYVE):c.2795T>C (p.Leu932Ser)	PIKFYVE (L932S)	Single nucleotide variant (missense variant)	Fleck corneal dystrophy +1 more	GBenign
Select item 333906	NM_015040.4(PIKFYVE):c.2802T>A (p.Ile934=)	PIKFYVE	Single nucleotide variant (synonymous 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 897322	NM_015040.4(PIKFYVE):c.2881A>G (p.Thr961Ala)	PIKFYVE (T961A)	Single nucleotide variant (missense variant)	Fleck corneal dystrophy	GBenign
Select item 333907	NM_015040.4(PIKFYVE):c.2892G>A (p.Pro964=)	PIKFYVE	Single nucleotide variant (synonymous variant)	Fleck corneal dystrophy +2 more	GBenign/Likely benign
Select item 333908	NM_015040.4(PIKFYVE):c.2895G>A (p.Ala965=)	PIKFYVE	Single nucleotide variant (synonymous variant)	Fleck corneal dystrophy +1 more	GBenign
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 632338	NM_015040.4(PIKFYVE):c.2959C>T (p.Gln987Ter)	PIKFYVE (Q987*)	Single nucleotide variant (nonsense)	Fleck corneal dystrophy	GUncertain significance
Select item 333909	NM_015040.4(PIKFYVE):c.2984A>T (p.Gln995Leu)	PIKFYVE (Q995L)	Single nucleotide variant (missense variant)	Fleck corneal dystrophy +1 more	GBenign
Select item 333910	NM_015040.4(PIKFYVE):c.2993C>G (p.Thr998Ser)	PIKFYVE (T998S)	Single nucleotide variant (missense variant)	Fleck corneal dystrophy +1 more	GBenign
Select item 333911	NM_015040.4(PIKFYVE):c.3097T>G (p.Ser1033Ala)	PIKFYVE (S1033A)	Single nucleotide variant (missense variant)	Fleck corneal dystrophy +1 more	GBenign
Select item 333912	NM_015040.4(PIKFYVE):c.3114A>G (p.Arg1038=)	PIKFYVE	Single nucleotide variant (synonymous variant)	Fleck corneal dystrophy +1 more	GBenign
Select item 333913	NM_015040.4(PIKFYVE):c.3122A>G (p.Tyr1041Cys)	PIKFYVE (Y1041C)	Single nucleotide variant (missense variant)	Fleck corneal dystrophy	GUncertain significance
Select item 333914	NM_015040.4(PIKFYVE):c.3270C>G (p.Leu1090=)	PIKFYVE	Single nucleotide variant (synonymous variant)	Fleck corneal dystrophy	GUncertain significance
Select item 333915	NM_015040.4(PIKFYVE):c.3354A>G (p.Gly1118=)	PIKFYVE	Single nucleotide variant (synonymous variant)	PIKFYVE-related condition +1 more	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 333916	NM_015040.4(PIKFYVE):c.3511G>A (p.Ala1171Thr)	PIKFYVE (A1171T)	Single nucleotide variant (missense variant)	Fleck corneal dystrophy	GUncertain significance
Select item 333917	NM_015040.4(PIKFYVE):c.3547C>A (p.Gln1183Lys)	PIKFYVE (Q1183K)	Single nucleotide variant (missense variant)	Fleck corneal dystrophy +1 more	GBenign
Select item 333918	NM_015040.4(PIKFYVE):c.3564T>C (p.Asn1188=)	PIKFYVE	Single nucleotide variant (synonymous variant)	Fleck corneal dystrophy +1 more	GBenign
Select item 895487	NM_015040.4(PIKFYVE):c.3719+14C>A	PIKFYVE	Single nucleotide variant (intron variant)	Fleck corneal dystrophy	GBenign
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 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 333919	NM_015040.4(PIKFYVE):c.4215A>G (p.Leu1405=)	PIKFYVE	Single nucleotide variant (synonymous variant)	Fleck corneal dystrophy +1 more	GBenign
Select item 333920	NM_015040.4(PIKFYVE):c.4436C>G (p.Thr1479Ser)	PIKFYVE (T1479S)	Single nucleotide variant (missense variant)	Fleck corneal dystrophy	GBenign
Select item 333921	NM_015040.4(PIKFYVE):c.4455G>A (p.Ser1485=)	PIKFYVE	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
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 896893	NM_015040.4(PIKFYVE):c.4567G>A (p.Val1523Ile)	PIKFYVE (V1523I)	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 896895	NM_015040.4(PIKFYVE):c.4607G>A (p.Ser1536Asn)	PIKFYVE (S1536N)	Single nucleotide variant (missense variant)	Fleck corneal dystrophy	GUncertain significance
Select item 333922	NM_015040.4(PIKFYVE):c.4629A>G (p.Ala1543=)	PIKFYVE	Single nucleotide variant (synonymous variant)	Fleck corneal dystrophy +1 more	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 333923	NM_015040.4(PIKFYVE):c.4731A>G (p.Gln1577=)	PIKFYVE	Single nucleotide variant (synonymous variant)	Fleck corneal dystrophy +1 more	GBenign
Select item 333924	NM_015040.4(PIKFYVE):c.4774G>A (p.Gly1592Arg)	PIKFYVE (G1592R)	Single nucleotide variant (missense variant)	Fleck corneal dystrophy +1 more	GBenign
Select item 897400	NM_015040.4(PIKFYVE):c.4811-9T>C	PIKFYVE	Single nucleotide variant (intron variant)	Fleck corneal dystrophy	GBenign
Select item 333925	NM_015040.4(PIKFYVE):c.4814T>G (p.Val1605Gly)	PIKFYVE (V1605G)	Single nucleotide variant (missense variant)	Fleck corneal dystrophy +2 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 333926	NM_015040.4(PIKFYVE):c.4958A>G (p.Tyr1653Cys)	PIKFYVE (Y1653C)	Single nucleotide variant (missense variant)	Fleck corneal dystrophy	GUncertain significance
Select item 333927	NM_015040.4(PIKFYVE):c.4989C>T (p.Cys1663=)	PIKFYVE	Single nucleotide variant (synonymous variant)	Fleck corneal dystrophy +1 more	GBenign
Select item 333928	NM_015040.4(PIKFYVE):c.5028-8G>A	PIKFYVE	Single nucleotide variant (intron variant)	Fleck corneal dystrophy +1 more	GBenign
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 898557	NM_015040.4(PIKFYVE):c.5137A>G (p.Ser1713Gly)	PIKFYVE (S1713G)	Single nucleotide variant (missense variant)	Fleck corneal dystrophy	GLikely benign
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 333929	NM_015040.4(PIKFYVE):c.5322G>C (p.Gln1774His)	PIKFYVE (Q1774H)	Single nucleotide variant (missense variant)	Fleck corneal dystrophy +1 more	GConflicting classifications of pathogenicity
Select item 333930	NM_015040.4(PIKFYVE):c.5334G>A (p.Thr1778=)	PIKFYVE	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 333931	NM_015040.4(PIKFYVE):c.5343G>A (p.Glu1781=)	PIKFYVE	Single nucleotide variant (synonymous variant)	Fleck corneal dystrophy	GBenign
Select item 333932	NM_015040.4(PIKFYVE):c.5397A>G (p.Thr1799=)	PIKFYVE	Single nucleotide variant (synonymous variant)	Fleck corneal dystrophy +1 more	GBenign
Select item 895568	NM_015040.4(PIKFYVE):c.5434+12A>T	PIKFYVE	Single nucleotide variant (intron variant)	Fleck corneal dystrophy	GBenign
Select item 333933	NM_015040.4(PIKFYVE):c.5511T>C (p.Ile1837=)	PIKFYVE	Single nucleotide variant (synonymous variant)	Fleck corneal dystrophy +1 more	GBenign
Select item 333934	NM_015040.4(PIKFYVE):c.5526A>G (p.Glu1842=)	PIKFYVE	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 333935	NM_015040.4(PIKFYVE):c.5573G>A (p.Arg1858Gln)	PIKFYVE (R1858Q)	Single nucleotide variant (missense variant)	Fleck corneal dystrophy	GBenign
Select item 333936	NM_015040.4(PIKFYVE):c.5594C>T (p.Ala1865Val)	PIKFYVE (A1865V)	Single nucleotide variant (missense variant)	Fleck corneal dystrophy	GBenign
Select item 333937	NM_015040.4(PIKFYVE):c.5716-11C>A	PIKFYVE	Single nucleotide variant (intron variant)	Fleck corneal dystrophy	GUncertain significance
Select item 896972	NM_015040.4(PIKFYVE):c.5716-4T>C	PIKFYVE	Single nucleotide variant (intron variant)	Fleck corneal dystrophy	GUncertain significance
Select item 333939	NM_015040.4(PIKFYVE):c.5727G>T (p.Ala1909=)	PIKFYVE	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign
Select item 333938	NM_015040.4(PIKFYVE):c.5727G>A (p.Ala1909=)	PIKFYVE	Single nucleotide variant (synonymous variant)	Fleck corneal dystrophy	GLikely benign
Select item 896973	NM_015040.4(PIKFYVE):c.6060G>A (p.Leu2020=)	PIKFYVE	Single nucleotide variant (synonymous variant)	Fleck corneal dystrophy +1 more	GBenign

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