ClinVar for Gene (Select 4751) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3191914	NM_002497.4(NEK2):c.568C>T (p.Arg190Cys)	NEK2 (R190C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3191902	NM_002497.4(NEK2):c.388C>G (p.Arg130Gly)	NEK2 (R130G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3046446	NM_001204182.2(NEK2):c.1167G>A (p.Ter389=)	NEK2	Single nucleotide variant (synonymous variant)	NEK2-related condition	GLikely benign
Select item 3028628	NM_002497.4(NEK2):c.37A>C (p.Thr13Pro)	LOC129932452, NEK2 (T13P)	Single nucleotide variant (missense variant)	Retinal dystrophy	GUncertain significance
Select item 3028624	NM_002497.4(NEK2):c.344G>C (p.Arg115Pro)	NEK2 (R115P)	Single nucleotide variant (missense variant)	Retinal dystrophy	GUncertain significance
Select item 3028608	NM_002497.4(NEK2):c.534C>T (p.Gly178=)	NEK2	Single nucleotide variant (synonymous variant)	Retinal dystrophy	GLikely pathogenic
Select item 3028603	NM_002497.4(NEK2):c.617T>A (p.Leu206Gln)	NEK2 (L206Q)	Single nucleotide variant (missense variant)	Retinal dystrophy	GUncertain significance
Select item 3028597	NM_002497.4(NEK2):c.618_624del (p.Glu208fs)	NEK2 (E208fs)	Deletion (frameshift variant)	Retinal dystrophy	GLikely pathogenic
Select item 3028579	NM_002497.4(NEK2):c.1010G>C (p.Arg337Pro)	NEK2 (R337P)	Single nucleotide variant (missense variant)	Retinal dystrophy	GLikely pathogenic
Select item 3028575	NM_002497.4(NEK2):c.1027G>A (p.Asp343Asn)	NEK2 (D343N)	Single nucleotide variant (missense variant)	Retinal dystrophy	GLikely pathogenic
Select item 3028564	NM_002497.4(NEK2):c.1270del (p.Ala424fs)	NEK2 (A424fs)	Deletion (frameshift variant +1 more)	Retinal dystrophy	GLikely pathogenic
Select item 3012847	NM_002497.4(NEK2):c.859G>A (p.Gly287Arg)	NEK2 (G287R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3008179	NM_002497.4(NEK2):c.909G>T (p.Leu303Phe)	NEK2 (L303F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3005339	NM_002497.4(NEK2):c.504_505inv (p.Asp169Asn)	NEK2 (D169N)	Inversion (missense variant)	not provided	GUncertain significance
Select item 2988357	NM_002497.4(NEK2):c.1227G>A (p.Lys409=)	NEK2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2981874	NM_002497.4(NEK2):c.280C>T (p.Leu94=)	NEK2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2981873	NM_002497.4(NEK2):c.591A>G (p.Ser197=)	NEK2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2977504	NM_002497.4(NEK2):c.985+11A>C	NEK2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2976153	NM_002497.4(NEK2):c.1254C>T (p.His418=)	NEK2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2963466	NM_002497.4(NEK2):c.697T>C (p.Phe233Leu)	NEK2 (F233L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2856369	NM_002497.4(NEK2):c.817G>T (p.Asp273Tyr)	NEK2 (D273Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2855158	NM_002497.4(NEK2):c.413T>C (p.Leu138Ser)	NEK2 (L138S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2839593	NM_002497.4(NEK2):c.1300T>G (p.Tyr434Asp)	NEK2 (Y434D)	Single nucleotide variant (intron variant +1 more)	not provided	GUncertain significance
Select item 2839034	NM_002497.4(NEK2):c.361A>G (p.Thr121Ala)	NEK2 (T121A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2836699	NM_002497.4(NEK2):c.840A>G (p.Arg280=)	NEK2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2832884	NM_002497.4(NEK2):c.592G>A (p.Asp198Asn)	NEK2 (D198N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2830531	NM_002497.4(NEK2):c.639-19del	NEK2	Deletion (intron variant)	not provided	GLikely benign
Select item 2824332	NM_002497.4(NEK2):c.289G>T (p.Val97Leu)	NEK2 (V97L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2821329	NM_002497.4(NEK2):c.18G>A (p.Glu6=)	LOC129932452, NEK2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2812430	NM_002497.4(NEK2):c.65G>A (p.Cys22Tyr)	LOC129932452, NEK2 (C22Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2806998	NM_002497.4(NEK2):c.232A>T (p.Thr78Ser)	NEK2 (T78S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2802570	NM_002497.4(NEK2):c.1199C>G (p.Ser400Cys)	NEK2 (S400C)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2799087	NM_002497.4(NEK2):c.886T>C (p.Ser296Pro)	NEK2 (S296P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2796496	NM_002497.4(NEK2):c.1214C>T (p.Thr405Ile)	NEK2 (T405I)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2794239	NM_002497.4(NEK2):c.662del (p.Gln221fs)	NEK2 (Q221fs)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 2787380	NM_002497.4(NEK2):c.1117C>T (p.Leu373Phe)	NEK2 (L373F)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2783240	NM_002497.4(NEK2):c.715C>A (p.Arg239Ser)	NEK2 (R239S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2777086	NM_002497.4(NEK2):c.845A>G (p.Asn282Ser)	NEK2 (N282S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2767649	NM_002497.4(NEK2):c.787G>A (p.Glu263Lys)	NEK2 (E263K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2750209	NM_002497.4(NEK2):c.257T>C (p.Met86Thr)	NEK2 (M86T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2746932	NM_002497.4(NEK2):c.711A>G (p.Pro237=)	NEK2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2530683	NM_002497.4(NEK2):c.122A>G (p.Tyr41Cys)	NEK2 (Y41C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2422080	NM_002497.4(NEK2):c.1119T>C (p.Leu373=)	NEK2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2406513	NM_002497.4(NEK2):c.1270G>C (p.Ala424Pro)	NEK2 (A424P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2280070	NM_002497.4(NEK2):c.1135G>C (p.Val379Leu)	NEK2 (V379L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2265549	NM_002497.4(NEK2):c.116T>G (p.Leu39Arg)	NEK2 (L39R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2261879	NM_002497.4(NEK2):c.145A>C (p.Lys49Gln)	NEK2 (K49Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2177588	NM_002497.4(NEK2):c.716G>A (p.Arg239His)	NEK2 (R239H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2170220	NM_002497.4(NEK2):c.892G>T (p.Asp298Tyr)	NEK2 (D298Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2163149	NM_002497.4(NEK2):c.153G>A (p.Met51Ile)	NEK2 (M51I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2133732	NM_002497.4(NEK2):c.986-15A>G	NEK2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2130877	NM_002497.4(NEK2):c.191A>T (p.His64Leu)	NEK2 (H64L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2121839	NM_002497.4(NEK2):c.1056G>A (p.Leu352=)	NEK2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2114473	NM_002497.4(NEK2):c.507C>T (p.Asp169=)	NEK2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2114091	NM_002497.4(NEK2):c.582T>C (p.Asn194=)	NEK2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2111292	NM_002497.4(NEK2):c.194C>T (p.Pro65Leu)	NEK2 (P65L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2100351	NM_002497.4(NEK2):c.703C>T (p.Arg235Ter)	NEK2 (R235*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 2097139	NM_002497.4(NEK2):c.996G>A (p.Gln332=)	NEK2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2094588	NM_002497.4(NEK2):c.765+8T>C	NEK2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2086652	NM_002497.4(NEK2):c.556-20T>C	NEK2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2082834	NM_002497.4(NEK2):c.660C>A (p.Ser220Arg)	NEK2 (S220R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2082061	NM_002497.4(NEK2):c.205C>A (p.Arg69Ser)	NEK2 (R69S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2077911	NM_002497.4(NEK2):c.990A>G (p.Lys330=)	NEK2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2068681	NM_002497.4(NEK2):c.1315A>G (p.Arg439Gly)	NEK2 (R439G)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2065506	NM_002497.4(NEK2):c.1112-2del	NEK2	Deletion (intron variant +1 more)	not provided	GUncertain significance
Select item 2059304	NM_002497.4(NEK2):c.638+1G>A	NEK2	Single nucleotide variant (splice donor variant)	not provided	GUncertain significance
Select item 2054414	NM_002497.4(NEK2):c.282G>A (p.Leu94=)	NEK2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2052992	NM_002497.4(NEK2):c.273A>T (p.Gly91=)	NEK2	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 2051305	NM_002497.4(NEK2):c.1050_1057dup (p.Lys353delinsIleCysTer)	NEK2	Duplication (nonsense)	not provided	GUncertain significance
Select item 2041586	NM_002497.4(NEK2):c.356A>G (p.Gln119Arg)	NEK2 (Q119R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2019824	NM_002497.4(NEK2):c.483G>A (p.Gly161=)	NEK2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2017298	NM_002497.4(NEK2):c.315-16dup	NEK2	Duplication (intron variant)	not provided	GLikely benign
Select item 2013304	NM_002497.4(NEK2):c.807T>C (p.Pro269=)	NEK2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2012823	NM_002497.4(NEK2):c.435C>A (p.Ala145=)	NEK2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2011967	NM_002497.4(NEK2):c.1112-6C>G	NEK2	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2004915	NM_002497.4(NEK2):c.85A>T (p.Ser29Cys)	LOC129932452, NEK2 (S29C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2003028	NM_002497.4(NEK2):c.735T>C (p.Asn245=)	NEK2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1999894	NM_002497.4(NEK2):c.638T>C (p.Met213Thr)	NEK2 (M213T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1999555	NM_002497.4(NEK2):c.178C>T (p.Arg60Cys)	NEK2 (R60C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1997520	NM_002497.4(NEK2):c.185T>G (p.Leu62Arg)	NEK2 (L62R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1995687	NM_002497.4(NEK2):c.805C>A (p.Pro269Thr)	NEK2 (P269T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1982743	NM_002497.4(NEK2):c.1113A>G (p.Glu371=)	NEK2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1978822	NM_002497.4(NEK2):c.583_589del (p.Glu195fs)	NEK2 (E195fs)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 1977633	NM_002497.4(NEK2):c.1300T>C (p.Tyr434His)	NEK2 (Y434H)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1975955	NM_002497.4(NEK2):c.606G>A (p.Leu202=)	NEK2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1973960	NM_002497.4(NEK2):c.1223C>A (p.Ser408Tyr)	NEK2 (S408Y)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1972495	NM_002497.4(NEK2):c.96G>T (p.Lys32Asn)	LOC129932452, NEK2 (K32N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1971341	NM_002497.4(NEK2):c.549G>T (p.Met183Ile)	NEK2 (M183I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1966657	NM_002497.4(NEK2):c.1276G>A (p.Ala426Thr)	NEK2 (A426T)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1966233	NM_002497.4(NEK2):c.77G>T (p.Arg26Leu)	LOC129932452, NEK2 (R26L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1964196	NM_002497.4(NEK2):c.1160G>A (p.Ser387Asn)	NEK2 (S387N)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1962402	NM_002497.4(NEK2):c.747G>A (p.Thr249=)	NEK2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1961655	NM_002497.4(NEK2):c.803del (p.Asn268fs)	NEK2 (N268fs)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 1956981	NM_002497.4(NEK2):c.932T>A (p.Ile311Asn)	NEK2 (I311N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1953315	NM_002497.4(NEK2):c.286A>G (p.Ser96Gly)	NEK2 (S96G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1950110	NM_002497.4(NEK2):c.639-6C>T	NEK2	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1945208	NM_002497.4(NEK2):c.1226A>G (p.Lys409Arg)	NEK2 (K409R)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1945157	NM_002497.4(NEK2):c.212A>G (p.Tyr71Cys)	NEK2 (Y71C)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1935143	NM_002497.4(NEK2):c.715C>T (p.Arg239Cys)	NEK2 (R239C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1934718	NM_002497.4(NEK2):c.907T>C (p.Leu303=)	NEK2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign

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