91754[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155306	GRCh38/hg38 14q11.2-32.33(chr14:20043514-106877229)x3	LOC125048431, LOC125048432 +3280 more	Copy number gain	See cases	GPathogenic
Select item 146230	GRCh38/hg38 14q11.2-32.33(chr14:20151149-106855263)x3	FSCB, FUT8 +3275 more	Copy number gain	See cases	GPathogenic
Select item 144734	GRCh38/hg38 14q24.1-31.1(chr14:69562099-81975384)x1	LOC130056152, LOC130056153 +503 more	Copy number loss	See cases	GPathogenic
Select item 155198	GRCh38/hg38 14q24.3-31.1(chr14:73343213-78835059)x1	ABCD4, ACOT1 +299 more	Copy number loss	See cases	GLikely pathogenic
Select item 144518	GRCh38/hg38 14q24.3-32.33(chr14:73655772-106879298)x3	ABCD4, ACYP1 +1421 more	Copy number gain	See cases	GPathogenic
Select item 57808	GRCh38/hg38 14q24.3(chr14:73877072-78042422)x1	ABCD4, ACYP1 +227 more	Copy number loss	See cases	GPathogenic
Select item 148020	GRCh38/hg38 14q24.3(chr14:74986195-76399258)x1	ACYP1, BATF +71 more	Copy number loss	See cases	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 +1 more	GBenign
Select item 710039	NM_033116.6(NEK9):c.2886A>C (p.Leu962Phe)	NEK9 (L974F +2 more)	Single nucleotide variant (missense variant)	not provided	GBenign
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 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 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 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 1270600	NM_033116.6(NEK9):c.2818-53T>G	NEK9	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1244909	NM_033116.6(NEK9):c.2817+66A>G	NEK9	Single nucleotide variant (intron variant)	not provided	GBenign
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 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 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 2689575	NM_033116.6(NEK9):c.2658_2659inv (p.Pro887Thr)	NEK9 (P769T +2 more)	Inversion (missense variant)	not provided	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 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 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 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 726845	NM_033116.6(NEK9):c.2482C>A (p.Pro828Thr)	NEK9 (P828T +2 more)	Single nucleotide variant (missense 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 710224	NM_033116.6(NEK9):c.2442+4A>G	NEK9	Single nucleotide variant (intron variant)	NEK9-related condition +1 more	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 713005	NM_033116.6(NEK9):c.2385A>G (p.Thr795=)	NEK9	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 717455	NM_033116.6(NEK9):c.2357G>A (p.Arg786Gln)	NEK9 (R668Q +2 more)	Single nucleotide variant (missense variant)	not provided	GBenign/Likely benign
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 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 724771	NM_033116.6(NEK9):c.2271C>T (p.Gly757=)	NEK9	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1220713	NM_033116.6(NEK9):c.2263G>A (p.Gly755Ser)	NEK9 (G637S +2 more)	Single nucleotide variant (missense variant)	not provided	GBenign
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 1270792	NM_033116.6(NEK9):c.2234-50T>G	NEK9	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1282285	NM_033116.6(NEK9):c.2233+204T>G	NEK9	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 712149	NM_033116.6(NEK9):c.2232T>C (p.Thr744=)	NEK9	Single nucleotide variant (synonymous variant)	Arthrogryposis, Perthes disease, and upward gaze palsy +1 more	GConflicting classifications of pathogenicity
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 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 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 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 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 242930	NM_033116.6(NEK9):c.2042G>A (p.Arg681His)	NEK9 (R681H +2 more)	Single nucleotide variant (missense variant)	NEK9-related lethal skeletal dysplasia	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 1279273	NM_033116.6(NEK9):c.2002+166C>G	NEK9	Single nucleotide variant (intron variant)	not provided	GBenign
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 2138572	NM_033116.6(NEK9):c.1934del (p.Gly645fs)	NEK9 (G645fs +2 more)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2507642	NM_033116.6(NEK9):c.1850G>A (p.Arg617Gln)	NEK9 (R617Q +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
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 1278898	NM_033116.6(NEK9):c.1840+222T>C	NEK9	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2038281	NM_033116.6(NEK9):c.1840+2T>C	NEK9	Single nucleotide variant (splice donor variant)	not provided +1 more	GLikely pathogenic
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 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 2060841	NM_033116.6(NEK9):c.1794dup (p.Ile599fs)	NEK9 (I481fs +2 more)	Duplication (frameshift variant)	not provided	GPathogenic
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 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 161787	NM_033116.6(NEK9):c.1756dup (p.Thr586fs)	NEK9 (T468fs +2 more)	Duplication (frameshift variant)	Malignant tumor of prostate	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 1262128	NM_033116.6(NEK9):c.1732-31T>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 264658	NM_033116.6(NEK9):c.1731+1G>T	NEK9	Single nucleotide variant (splice donor variant)	Not Specified	Gno classification for the single variant Sno classification for the single variant Ono classification for the single variant
Select item 242987	NM_033116.4(NEK9):c.[1715G>T;1731+1G>T]	NEK9 (G572V +2 more)	Single nucleotide variant (splice donor variant +1 more)	Nevus comedonicus syndrome	GPathogenic
Select item 242988	NM_033116.4(NEK9):c.1817T>C (p.Ile573Thr)	NEK9 (I573T +2 more)	Single nucleotide variant (missense variant)	Nevus comedonicus syndrome	GPathogenic
Select item 264672	NM_033116.6(NEK9):c.1715G>T (p.Gly572Val)	NEK9 (G572V +2 more)	Single nucleotide variant (missense variant)	Not Specified	Gno classification for the single variant Sno classification for the single variant Ono classification for the single variant
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 1231789	NM_033116.6(NEK9):c.1576-171del	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 1267045	NM_033116.6(NEK9):c.1528+140del	NEK9	Deletion (intron variant)	not provided	GBenign
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 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 619170	NM_033116.6(NEK9):c.1505A>G (p.Tyr502Cys)	NEK9 (Y502C +1 more)	Single nucleotide variant (missense variant)	Retinopathy +1 more	GLikely benign
Select item 242929	NM_033116.6(NEK9):c.1489C>T (p.Arg497Ter)	NEK9 (R497* +1 more)	Single nucleotide variant (nonsense)	NEK9-related lethal skeletal dysplasia	GPathogenic
Select item 987459	NM_033116.6(NEK9):c.1432del (p.Leu478fs)	NEK9 (L360fs +1 more)	Deletion (frameshift variant)	not provided	GPathogenic
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 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 1279353	NM_033116.6(NEK9):c.1328-120A>G	NEK9	Single nucleotide variant (intron variant)	not provided	GBenign
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 1031033	NM_033116.6(NEK9):c.1327+1G>T	NEK9	Single nucleotide variant (splice donor variant)	Arthrogryposis, Perthes disease, and upward gaze palsy	GLikely pathogenic
Select item 3057288	NM_033116.6(NEK9):c.1326T>C (p.Thr442=)	NEK9	Single nucleotide variant (synonymous variant)	NEK9-related condition	GLikely benign
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 721955	NM_033116.6(NEK9):c.1236C>T (p.Ala412=)	NEK9	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 982714	NM_033116.6(NEK9):c.1126G>A (p.Ala376Thr)	NEK9 (A258T +1 more)	Single nucleotide variant (missense variant)	NEK9-related lethal skeletal dysplasia	GLikely benign
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 779690	NM_033116.6(NEK9):c.1050T>C (p.Tyr350=)	NEK9	Single nucleotide variant (synonymous variant)	not provided	GBenign
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 3192613	NM_033116.6(NEK9):c.990G>A (p.Arg330=)	NEK9	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 1182712	NM_033116.6(NEK9):c.990-82_990-80del	NEK9	Microsatellite (intron variant)	not provided	GBenign
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 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 373374	NM_033116.6(NEK9):c.908T>C (p.Leu303Pro)	NEK9 (L303P +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 987460	NM_033116.6(NEK9):c.874-2A>G	NEK9	Single nucleotide variant (splice acceptor variant)	not provided	GLikely pathogenic
Select item 1241923	NM_033116.6(NEK9):c.874-46C>T	NEK9	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2644374	NM_033116.6(NEK9):c.861G>A (p.Ser287=)	NEK9	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
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 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 1031552	NM_033116.6(NEK9):c.762+10C>T	NEK9	Single nucleotide variant (intron variant)	Arthrogryposis, Perthes disease, and upward gaze palsy	GUncertain significance
Select item 373375	NM_033116.6(NEK9):c.727G>T (p.Glu243Ter)	NEK9 (E243* +1 more)	Single nucleotide variant (nonsense)	not provided	GLikely pathogenic
Select item 2432183	NM_033116.6(NEK9):c.664del (p.Leu222fs)	NEK9 (L104fs +1 more)	Deletion (frameshift variant)	not provided	GLikely pathogenic

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