ClinVar for Gene (Select 259307) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3301583	NM_016553.5(NUP62):c.895C>T (p.Pro299Ser)	IL4I1, NUP62 (P299S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3301582	NM_016553.5(NUP62):c.122G>A (p.Gly41Glu)	IL4I1, NUP62 (G41E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3285891	NM_152899.2(IL4I1):c.322T>C (p.Trp108Arg)	IL4I1 (W108R +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3285890	NM_152899.2(IL4I1):c.576A>C (p.Lys192Asn)	IL4I1 (K155N +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3285889	NM_152899.2(IL4I1):c.1309G>C (p.Gly437Arg)	IL4I1 (G459R +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3285888	NM_152899.2(IL4I1):c.1508A>G (p.Lys503Arg)	IL4I1 (K466R +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3285887	NM_152899.2(IL4I1):c.656G>C (p.Gly219Ala)	IL4I1 (G241A +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3248486	NC_000019.9:g.(?_49713446)_(50413064_?)dup	ADM5, AKT1S1 +35 more	Duplication	Developmental and epileptic encephalopathy, 12	GUncertain significance
Select item 3242730	NC_000019.9:g.(?_50411496)_(50413064_?)dup	IL4I1, NUP62	Duplication	not provided	GUncertain significance
Select item 3203231	NM_016553.5(NUP62):c.992C>T (p.Ala331Val)	IL4I1, NUP62 (A331V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3203230	NM_016553.5(NUP62):c.1520A>T (p.Glu507Val)	IL4I1, NUP62 (E507V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3203229	NM_016553.5(NUP62):c.1503G>C (p.Glu501Asp)	IL4I1, NUP62 (E501D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3203227	NM_016553.5(NUP62):c.1412T>C (p.Leu471Pro)	IL4I1, NUP62 (L471P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3203226	NM_016553.5(NUP62):c.1259C>T (p.Thr420Ile)	IL4I1, NUP62 (T420I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3203225	NM_016553.5(NUP62):c.1111A>G (p.Lys371Glu)	IL4I1, NUP62 (K371E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3109434	NM_152899.2(IL4I1):c.402C>A (p.Asn134Lys)	IL4I1 (N97K +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3109433	NM_152899.2(IL4I1):c.161A>G (p.Asn54Ser)	IL4I1 (N76S +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3109432	NM_152899.2(IL4I1):c.1529C>A (p.Pro510His)	IL4I1 (P473H +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3109431	NM_152899.2(IL4I1):c.1525G>C (p.Gly509Arg)	IL4I1 (G531R +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3109430	NM_152899.2(IL4I1):c.82C>T (p.Arg28Cys)	IL4I1 (R50C +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3109429	NM_152899.2(IL4I1):c.1415C>T (p.Pro472Leu)	IL4I1 (P494L +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3109428	NM_152899.2(IL4I1):c.51C>A (p.Ser17Arg)	IL4I1 (S39R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3109427	NM_152899.2(IL4I1):c.1112G>A (p.Gly371Asp)	IL4I1 (G371D +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3062398	GRCh37/hg19 19q13.33-13.41(chr19:48905537-51614930)x3	ACP4, ADM5 +118 more	Copy number gain	not specified	GLikely pathogenic
Select item 3047740	NM_016553.5(NUP62):c.1146G>A (p.Val382=)	IL4I1, NUP62	Single nucleotide variant (synonymous variant +1 more)	NUP62-related disorder	GLikely benign
Select item 3037998	NM_016553.5(NUP62):c.561G>A (p.Thr187=)	IL4I1, NUP62	Single nucleotide variant (synonymous variant +1 more)	NUP62-related disorder	GLikely benign
Select item 2994345	NM_016553.5(NUP62):c.1387G>A (p.Ala463Thr)	IL4I1, NUP62 (A463T)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2992040	NM_016553.5(NUP62):c.457A>G (p.Thr153Ala)	IL4I1, NUP62 (T153A)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2974959	NM_016553.5(NUP62):c.770G>T (p.Ser257Ile)	IL4I1, NUP62 (S257I)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2906312	NM_016553.5(NUP62):c.1544G>A (p.Arg515His)	IL4I1, NUP62 (R515H)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2897345	NM_016553.5(NUP62):c.1029G>A (p.Glu343=)	IL4I1, NUP62	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2892282	NM_016553.5(NUP62):c.1130G>A (p.Arg377His)	IL4I1, NUP62 (R377H)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 2888565	NM_016553.5(NUP62):c.1254C>T (p.Ser418=)	IL4I1, NUP62	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2885519	NM_016553.5(NUP62):c.7G>A (p.Gly3Arg)	IL4I1, NUP62 (G3R)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2878030	NM_016553.5(NUP62):c.371C>G (p.Ala124Gly)	IL4I1, NUP62 (A124G)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2841176	NM_016553.5(NUP62):c.1232A>G (p.Glu411Gly)	IL4I1, NUP62 (E411G)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2807802	NM_016553.5(NUP62):c.436A>T (p.Thr146Ser)	IL4I1, NUP62 (T146S)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2797835	NM_016553.5(NUP62):c.832A>G (p.Thr278Ala)	IL4I1, NUP62 (T278A)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2795028	NM_016553.5(NUP62):c.827C>T (p.Thr276Ile)	IL4I1, NUP62 (T276I)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2790709	NM_016553.5(NUP62):c.1077C>T (p.Asn359=)	IL4I1, NUP62	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2782225	NM_016553.5(NUP62):c.765C>T (p.Gly255=)	IL4I1, NUP62	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2748867	NM_016553.5(NUP62):c.271G>A (p.Gly91Arg)	IL4I1, NUP62 (G91R)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2744338	NM_016553.5(NUP62):c.507C>T (p.Ser169=)	IL4I1, NUP62	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 2719986	NM_016553.5(NUP62):c.254G>A (p.Gly85Glu)	IL4I1, NUP62 (G85E)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2716587	NM_016553.5(NUP62):c.402C>A (p.Gly134=)	IL4I1, NUP62	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2712156	NM_016553.5(NUP62):c.1235A>G (p.Glu412Gly)	IL4I1, NUP62 (E412G)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2684892	GRCh37/hg19 19q13.33-13.43(chr19:49625130-57647352)x3	ACP4, ADM5 +261 more	Copy number gain	not provided	GLikely pathogenic
Select item 2650292	NM_016553.5(NUP62):c.249G>T (p.Ser83=)	IL4I1, NUP62	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2603225	NM_152899.2(IL4I1):c.289C>T (p.Arg97Cys)	IL4I1 (R119C +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2554845	NM_016553.5(NUP62):c.1048C>T (p.His350Tyr)	IL4I1, NUP62 (H350Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2554462	NM_152899.2(IL4I1):c.79G>C (p.Glu27Gln)	IL4I1 (E27Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2534909	NM_016553.5(NUP62):c.59C>T (p.Thr20Ile)	IL4I1, NUP62 (T20I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2533099	NM_016553.5(NUP62):c.1444A>T (p.Met482Leu)	IL4I1, NUP62 (M482L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2532985	NM_016553.5(NUP62):c.184C>A (p.Leu62Ile)	IL4I1, NUP62 (L62I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2464864	NM_016553.5(NUP62):c.704C>G (p.Thr235Ser)	IL4I1, NUP62 (T235S)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GUncertain significance
Select item 2464863	NM_016553.5(NUP62):c.413C>G (p.Thr138Ser)	IL4I1, NUP62 (T138S)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 2434472	NM_016553.5(NUP62):c.296T>C (p.Leu99Ser)	IL4I1, NUP62 (L99S)	Single nucleotide variant (missense variant +1 more)	Familial infantile bilateral striatal necrosis	GUncertain significance
Select item 2426877	NC_000019.9:g.(?_50411496)_(50766697_?)dup	ATF5, IL4I1 +6 more	Duplication	not provided	GUncertain significance
Select item 2420537	NM_016553.5(NUP62):c.933C>T (p.Thr311=)	IL4I1, NUP62	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2419335	NM_016553.5(NUP62):c.1089C>T (p.Arg363=)	IL4I1, NUP62	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2418597	NM_016553.5(NUP62):c.1132G>A (p.Glu378Lys)	IL4I1, NUP62 (E378K)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2369212	NM_152899.2(IL4I1):c.1612T>G (p.Ser538Ala)	IL4I1 (S560A +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2364511	NM_152899.2(IL4I1):c.1665A>C (p.Leu555Phe)	IL4I1 (L577F +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2355220	NM_016553.5(NUP62):c.1236G>T (p.Glu412Asp)	IL4I1, NUP62 (E412D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2355143	NM_016553.5(NUP62):c.188C>T (p.Ala63Val)	IL4I1, NUP62 (A63V)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 2349260	NM_152899.2(IL4I1):c.652G>A (p.Glu218Lys)	IL4I1 (E240K +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2335353	NM_152899.2(IL4I1):c.1256C>T (p.Ala419Val)	IL4I1 (A419V +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2318110	NM_152899.2(IL4I1):c.238G>A (p.Asp80Asn)	IL4I1 (D102N +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2307812	NM_152899.2(IL4I1):c.1489G>A (p.Ala497Thr)	IL4I1 (A460T +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2306970	NM_152899.2(IL4I1):c.1237G>A (p.Glu413Lys)	IL4I1 (E376K +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2299100	NM_152899.2(IL4I1):c.1393G>A (p.Glu465Lys)	IL4I1 (E428K +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2294189	NM_152899.2(IL4I1):c.1085C>T (p.Pro362Leu)	IL4I1 (P384L +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2291993	NM_152899.2(IL4I1):c.1108G>A (p.Glu370Lys)	IL4I1 (E333K +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2290432	NM_152899.2(IL4I1):c.766A>G (p.Arg256Gly)	IL4I1 (R256G +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2289320	NM_016553.5(NUP62):c.1445T>A (p.Met482Lys)	IL4I1, NUP62 (M482K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2286793	NM_152899.2(IL4I1):c.1186G>A (p.Ala396Thr)	IL4I1 (A396T +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2268012	NM_152899.2(IL4I1):c.517C>G (p.Gln173Glu)	IL4I1 (Q136E +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2266291	NM_016553.5(NUP62):c.454G>A (p.Ala152Thr)	IL4I1, NUP62 (A152T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2257583	NM_152899.2(IL4I1):c.1094G>T (p.Arg365Leu)	IL4I1 (R365L +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2256720	NM_016553.5(NUP62):c.838A>G (p.Thr280Ala)	IL4I1, NUP62 (T280A)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2247207	NM_016553.5(NUP62):c.1046G>A (p.Arg349Gln)	IL4I1, NUP62 (R349Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2245736	NM_016553.5(NUP62):c.955G>A (p.Ala319Thr)	IL4I1, NUP62 (A319T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2244690	NM_016553.5(NUP62):c.589G>A (p.Ala197Thr)	IL4I1, NUP62 (A197T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2237812	NM_152899.2(IL4I1):c.455T>G (p.Val152Gly)	IL4I1 (V174G +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2216809	NM_152899.2(IL4I1):c.637G>A (p.Glu213Lys)	IL4I1 (E213K +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2216220	NM_152899.2(IL4I1):c.1645C>T (p.Pro549Ser)	IL4I1 (P512S +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2215331	NM_152899.2(IL4I1):c.538G>C (p.Glu180Gln)	IL4I1 (E143Q +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2215203	NM_172374.3(IL4I1):c.44T>G (p.Met15Arg)	IL4I1 (M15R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2195180	NM_016553.5(NUP62):c.802_804del (p.Ser268del)	IL4I1, NUP62 (S268del)	Deletion (intron variant)	not provided	GUncertain significance
Select item 2181920	NM_016553.5(NUP62):c.1288C>T (p.Arg430Cys)	IL4I1, NUP62 (R430C)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2179438	NM_016553.5(NUP62):c.778G>T (p.Ala260Ser)	IL4I1, NUP62 (A260S)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2175297	NM_016553.5(NUP62):c.1321G>A (p.Asp441Asn)	IL4I1, NUP62 (D441N)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2175165	NM_016553.5(NUP62):c.738G>A (p.Ala246=)	IL4I1, NUP62	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2174490	NM_016553.5(NUP62):c.673A>G (p.Ile225Val)	IL4I1, NUP62 (I225V)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2172876	NM_016553.5(NUP62):c.823GCCACC[1] (p.275AT[1])	NUP62, IL4I1	Microsatellite (intron variant)	not provided	GUncertain significance
Select item 2162464	NM_016553.5(NUP62):c.363C>T (p.Leu121=)	NUP62, IL4I1	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 2139891	NM_016553.5(NUP62):c.952G>A (p.Ala318Thr)	IL4I1, NUP62 (A318T)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2120502	NM_016553.5(NUP62):c.757A>T (p.Thr253Ser)	IL4I1, NUP62 (T253S)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2117677	NM_016553.5(NUP62):c.654G>A (p.Gly218=)	IL4I1, NUP62	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2097929	NM_016553.5(NUP62):c.731C>A (p.Thr244Asn)	IL4I1, NUP62 (T244N)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance

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