ClinVar for Gene (Select 91754) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3359233	NM_033116.6(NEK9):c.1183-93C>G	NEK9	Single nucleotide variant (intron variant)	Arthrogryposis, Perthes disease, and upward gaze palsy	GUncertain significance
Select item 3359232	NM_033116.6(NEK9):c.522T>G (p.His174Gln)	NEK9 (H174Q +1 more)	Single nucleotide variant (missense variant)	Arthrogryposis, Perthes disease, and upward gaze palsy	GUncertain significance
Select item 3336917	NM_033116.6(NEK9):c.2356C>T (p.Arg786Ter)	NEK9 (R668* +2 more)	Single nucleotide variant (nonsense)	not provided	GLikely pathogenic
Select item 3299242	NM_033116.6(NEK9):c.107A>G (p.Gln36Arg)	NEK9 (Q36R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3299241	NM_033116.6(NEK9):c.2707C>A (p.Gln903Lys)	NEK9 (Q915K +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3299240	NM_033116.6(NEK9):c.1532G>A (p.Arg511Gln)	NEK9 (R523Q +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3192613	NM_033116.6(NEK9):c.990G>A (p.Arg330=)	NEK9	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 3192600	NM_033116.6(NEK9):c.920T>G (p.Leu307Arg)	NEK9 (L189R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3192592	NM_033116.6(NEK9):c.790G>A (p.Val264Met)	NEK9 (V146M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3192573	NM_033116.6(NEK9):c.368C>T (p.Thr123Met)	NEK9 (T123M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3192567	NM_033116.6(NEK9):c.2854G>A (p.Glu952Lys)	NEK9 (E834K +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3192557	NM_033116.6(NEK9):c.2659C>A (p.Pro887Thr)	NEK9 (P887T +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3192527	NM_033116.6(NEK9):c.2275G>A (p.Gly759Ser)	NEK9 (G641S +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3192524	NM_033116.6(NEK9):c.2272G>A (p.Gly758Ser)	NEK9 (G758S +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3192521	NM_033116.6(NEK9):c.2212A>C (p.Ser738Arg)	NEK9 (S620R +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3192498	NM_033116.6(NEK9):c.1807G>T (p.Ala603Ser)	NEK9 (A485S +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3192496	NM_033116.6(NEK9):c.1784C>T (p.Ser595Phe)	NEK9 (S595F +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3192484	NM_033116.6(NEK9):c.1622G>C (p.Cys541Ser)	NEK9 (C541S +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3057288	NM_033116.6(NEK9):c.1326T>C (p.Thr442=)	NEK9	Single nucleotide variant (synonymous variant)	NEK9-related disorder	GLikely benign
Select item 3029481	NM_033116.6(NEK9):c.153C>T (p.His51=)	NEK9	Single nucleotide variant (synonymous variant +1 more)	NEK9-related disorder	GLikely benign
Select item 3029222	NM_033116.6(NEK9):c.360C>T (p.Asp120=)	NEK9	Single nucleotide variant (synonymous variant)	NEK9-related disorder	GLikely benign
Select item 2692321	NM_033116.6(NEK9):c.1327+2T>C	NEK9	Single nucleotide variant (splice donor variant)	NEK9-related lethal skeletal dysplasia +1 more	GLikely pathogenic
Select item 2692319	NM_033116.6(NEK9):c.1367G>A (p.Gly456Asp)	NEK9 (G338D +1 more)	Single nucleotide variant (missense variant)	NEK9-related lethal skeletal dysplasia +1 more	GLikely pathogenic
Select item 2689575	NM_033116.6(NEK9):c.2658_2659inv (p.Pro887Thr)	NEK9 (P769T +2 more)	Inversion (missense variant)	not provided	GUncertain significance
Select item 2685494	GRCh37/hg19 14q24.3(chr14:74883763-77219310)x1	NPC2, PGF +25 more	Copy number loss	not provided	GUncertain significance
Select item 2684728	GRCh37/hg19 14q23.1-32.33(chr14:58894502-107227240)x3	CCNK, MIR376A1 +353 more	Copy number gain	not provided	GPathogenic
Select item 2644374	NM_033116.6(NEK9):c.861G>A (p.Ser287=)	NEK9	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2621464	NM_033116.6(NEK9):c.2434C>T (p.Leu812Phe)	NEK9 (L824F +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2618334	NM_033116.6(NEK9):c.2423G>A (p.Cys808Tyr)	NEK9 (C808Y +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2613163	NM_033116.6(NEK9):c.2617A>G (p.Asn873Asp)	NEK9 (N885D +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2572518	NM_033116.6(NEK9):c.630G>A (p.Thr210=)	NEK9	Single nucleotide variant (synonymous variant)	Arthrogryposis, Perthes disease, and upward gaze palsy +1 more	GUncertain significance
Select item 2569410	NM_033116.6(NEK9):c.98G>A (p.Ser33Asn)	NEK9 (S33N)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2558271	NM_033116.6(NEK9):c.1799G>A (p.Arg600His)	NEK9 (R482H +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2556630	NM_033116.6(NEK9):c.2276G>A (p.Gly759Asp)	NEK9 (G641D +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2553998	NM_033116.6(NEK9):c.70G>A (p.Gly24Ser)	NEK9 (G24S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2544988	NM_033116.6(NEK9):c.2709G>C (p.Gln903His)	NEK9 (Q903H +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2534325	NM_033116.6(NEK9):c.85A>G (p.Ser29Gly)	NEK9 (S29G)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 2534324	NM_033116.6(NEK9):c.82T>G (p.Ser28Ala)	NEK9 (S28A)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2534323	NM_033116.6(NEK9):c.73T>G (p.Cys25Gly)	NEK9 (C25G)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 2534322	NM_033116.6(NEK9):c.40A>C (p.Ile14Leu)	NEK9 (I14L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2515919	NM_033116.6(NEK9):c.2608C>A (p.Pro870Thr)	NEK9 (P882T +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2507642	NM_033116.6(NEK9):c.1850G>A (p.Arg617Gln)	NEK9 (R617Q +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2493547	NM_033116.6(NEK9):c.2068C>A (p.Pro690Thr)	NEK9 (P572T +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2482207	NM_033116.6(NEK9):c.2881G>A (p.Asp961Asn)	NEK9 (D961N +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2475153	NM_033116.6(NEK9):c.1959C>G (p.Ile653Met)	NEK9 (I535M +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2469604	NM_033116.6(NEK9):c.1114C>T (p.Arg372Trp)	NEK9 (R372W +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2463925	NM_033116.6(NEK9):c.134C>T (p.Ala45Val)	NEK9 (A45V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2456525	NM_033116.6(NEK9):c.2041C>T (p.Arg681Cys)	NEK9 (R563C +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2432183	NM_033116.6(NEK9):c.664del (p.Leu222fs)	NEK9 (L104fs +1 more)	Deletion (frameshift variant)	not provided	GLikely pathogenic
Select item 2432174	NM_033116.6(NEK9):c.207C>G (p.Tyr69Ter)	NEK9 (Y69*)	Single nucleotide variant (nonsense +1 more)	not provided	GLikely pathogenic
Select item 2400430	NM_033116.6(NEK9):c.1528+2T>C	NEK9	Single nucleotide variant (synonymous variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2373368	NM_033116.6(NEK9):c.202C>G (p.Leu68Val)	NEK9 (L68V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2370745	NM_033116.6(NEK9):c.2171T>C (p.Val724Ala)	NEK9 (V724A +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2368117	NM_033116.6(NEK9):c.1739A>T (p.His580Leu)	NEK9 (H462L +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2367626	NM_033116.6(NEK9):c.2881G>T (p.Asp961Tyr)	NEK9 (D843Y +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2323936	NM_033116.6(NEK9):c.1387G>C (p.Val463Leu)	NEK9 (V345L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2308656	NM_033116.6(NEK9):c.2239C>T (p.Gln747Ter)	NEK9 (Q629* +2 more)	Single nucleotide variant (nonsense)	Inborn genetic diseases	GPathogenic
Select item 2308454	NM_033116.6(NEK9):c.530T>C (p.Ile177Thr)	NEK9 (I59T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2301543	NM_033116.6(NEK9):c.1766C>T (p.Thr589Ile)	NEK9 (T601I +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2299066	NM_033116.6(NEK9):c.1513G>A (p.Gly505Ser)	NEK9 (G505S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2278774	NM_033116.6(NEK9):c.68G>A (p.Gly23Glu)	NEK9 (G23E)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2276847	NM_033116.6(NEK9):c.828G>C (p.Gln276His)	NEK9 (Q276H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2252694	NM_033116.6(NEK9):c.2826G>A (p.Met942Ile)	NEK9 (M942I +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2237822	NM_033116.6(NEK9):c.986C>T (p.Pro329Leu)	NEK9 (P211L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2231328	NM_033116.6(NEK9):c.2773A>G (p.Thr925Ala)	NEK9 (T807A +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2216429	NM_033116.6(NEK9):c.2615T>C (p.Leu872Pro)	NEK9 (L884P +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2208712	NM_033116.6(NEK9):c.2146C>T (p.Arg716Cys)	NEK9 (R716C +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2207040	NM_033116.6(NEK9):c.2516A>G (p.Glu839Gly)	NEK9 (E721G +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2138572	NM_033116.6(NEK9):c.1934del (p.Gly645fs)	NEK9 (G645fs +2 more)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2060841	NM_033116.6(NEK9):c.1794dup (p.Ile599fs)	NEK9 (I481fs +2 more)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 2054772	NM_033116.6(NEK9):c.1033C>T (p.Arg345Ter)	NEK9 (R345* +1 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2038281	NM_033116.6(NEK9):c.1840+2T>C	NEK9	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
Select item 1707441	GRCh37/hg19 14q13.3-32.33(chr14:37671058-106985955)x2	AREL1, ARF6 +447 more	Copy number gain	See cases	GPathogenic
Select item 1686761	NM_033116.6(NEK9):c.1843C>T (p.Arg615Ter)	NEK9 (R497* +2 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 1683733	NM_033116.6(NEK9):c.326ACA[1] (p.Asn110del)	NEK9 (N110del)	Microsatellite (inframe_deletion +1 more)	Congenital omphalocele +1 more	GUncertain significance
Select item 1675543	NM_033116.6(NEK9):c.405C>A (p.Asn135Lys)	NEK9 (N135K +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1325899	NM_033116.6(NEK9):c.*13G>A	NEK9	Single nucleotide variant (3 prime UTR variant)	NEK9-related lethal skeletal dysplasia +2 more	GBenign
Select item 1299544	NM_033116.6(NEK9):c.2101C>T (p.Arg701Trp)	NEK9 (R583W +2 more)	Single nucleotide variant (missense variant)	Goldberg-Shprintzen syndrome	GLikely pathogenic
Select item 1299543	NM_033116.6(NEK9):c.219G>C (p.Glu73Asp)	NEK9 (E73D)	Single nucleotide variant (missense variant +1 more)	Goldberg-Shprintzen syndrome	GLikely pathogenic
Select item 1282285	NM_033116.6(NEK9):c.2233+204T>G	NEK9	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1281771	NM_033116.6(NEK9):c.2443-146G>T	NEK9	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1280566	NM_033116.6(NEK9):c.220-145C>T	NEK9	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1279353	NM_033116.6(NEK9):c.1328-120A>G	NEK9	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1279273	NM_033116.6(NEK9):c.2002+166C>G	NEK9	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1278898	NM_033116.6(NEK9):c.1840+222T>C	NEK9	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1277083	NM_033116.6(NEK9):c.1731+17G>T	NEK9	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1273929	NM_033116.6(NEK9):c.524+199T>C	NEK9	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1270792	NM_033116.6(NEK9):c.2234-50T>G	NEK9	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1270600	NM_033116.6(NEK9):c.2818-53T>G	NEK9	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1267045	NM_033116.6(NEK9):c.1528+140del	NEK9	Deletion (intron variant)	not provided	GBenign
Select item 1266925	NM_033116.6(NEK9):c.1575+94A>G	NEK9	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1262128	NM_033116.6(NEK9):c.1732-31T>C	NEK9	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1261282	NM_033116.6(NEK9):c.1286G>A (p.Arg429His)	NEK9 (R311H +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1257727	NM_033116.6(NEK9):c.454-56A>G	NEK9	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1253709	NM_033116.6(NEK9):c.300T>A (p.Ile100=)	NEK9	Single nucleotide variant (synonymous variant +1 more)	NEK9-related lethal skeletal dysplasia +2 more	GBenign
Select item 1244909	NM_033116.6(NEK9):c.2817+66A>G	NEK9	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1241923	NM_033116.6(NEK9):c.874-46C>T	NEK9	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1236663	NC_000014.9:g.75127199C>T	NEK9	Single nucleotide variant (genic upstream transcript variant)	not provided	GBenign
Select item 1231789	NM_033116.6(NEK9):c.1576-171del	NEK9	Deletion (intron variant)	not provided	GBenign
Select item 1228004	NC_000014.9:g.75127136T>C	NEK9	Single nucleotide variant (genic upstream transcript variant)	not provided	GBenign

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