IL4I1[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59116	GRCh38/hg38 19q13.33-13.43(chr19:47908540-58539965)x3	LOC130064925, LOC130064926 +1081 more	Copy number gain	See cases	GPathogenic
Select item 59117	GRCh38/hg38 19q13.33-13.43(chr19:47929575-58572206)x3	LOC130064903, LOC130064904 +1093 more	Copy number gain	See cases	GPathogenic
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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 59126	GRCh38/hg38 19q13.33-13.43(chr19:49907832-58557889)x3	LOC130065082, LOC130065083 +806 more	Copy number gain	See cases	GPathogenic
Select item 2070957	NM_016553.5(NUP62):c.1547G>C (p.Ser516Thr)	IL4I1, NUP62 (S516T)	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 1435101	NM_016553.5(NUP62):c.1525C>T (p.Arg509Trp)	IL4I1, NUP62 (R509W)	Single nucleotide variant (missense variant +1 more)	not provided	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 719935	NM_016553.5(NUP62):c.1518C>T (p.Cys506=)	IL4I1, NUP62	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
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 730074	NM_016553.5(NUP62):c.1483C>T (p.Leu495=)	IL4I1, NUP62	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 721062	NM_016553.5(NUP62):c.1482G>C (p.Leu494=)	IL4I1, NUP62	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
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 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 1358508	NM_016553.5(NUP62):c.1436A>G (p.Asn479Ser)	NUP62, IL4I1 (N479S)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	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 2023998	NM_016553.5(NUP62):c.1404dup (p.Asp469Ter)	IL4I1, NUP62 (D469*)	Duplication (nonsense +1 more)	not provided	GUncertain significance
Select item 1562818	NM_016553.5(NUP62):c.1395C>T (p.Ala465=)	IL4I1, NUP62	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2071546	NM_016553.5(NUP62):c.1388C>T (p.Ala463Val)	IL4I1, NUP62 (A463V)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
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 718364	NM_016553.5(NUP62):c.1383C>T (p.Ser461=)	IL4I1, NUP62	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1386549	NM_016553.5(NUP62):c.1366G>A (p.Glu456Lys)	IL4I1, NUP62 (E456K)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GUncertain significance
Select item 1374884	NM_016553.5(NUP62):c.1357G>A (p.Asp453Asn)	IL4I1, NUP62 (D453N)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 727035	NM_016553.5(NUP62):c.1338C>T (p.Arg446=)	IL4I1, NUP62	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 129846	NM_016553.5(NUP62):c.1323T>C (p.Asp441=)	IL4I1, NUP62	Single nucleotide variant (synonymous variant +1 more)	Infantile bilateral striatal necrosis +2 more	GBenign
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 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 1515150	NM_016553.5(NUP62):c.1279G>A (p.Asp427Asn)	IL4I1, NUP62 (D427N)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	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 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 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 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 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 739478	NM_016553.5(NUP62):c.1209G>A (p.Leu403=)	IL4I1, NUP62	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1943158	NM_016553.5(NUP62):c.1176G>C (p.Glu392Asp)	IL4I1, NUP62 (E392D)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 4752	NM_016553.5(NUP62):c.1172A>C (p.Gln391Pro)	IL4I1, NUP62 (Q391P)	Single nucleotide variant (missense variant +1 more)	Infantile bilateral striatal necrosis	GPathogenic
Select item 2065867	NM_016553.5(NUP62):c.1170C>T (p.Asp390=)	IL4I1, NUP62	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
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 1575813	NM_016553.5(NUP62):c.1134G>A (p.Glu378=)	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 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 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 1378602	NM_016553.5(NUP62):c.1098C>G (p.Ile366Met)	IL4I1, NUP62 (I366M)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
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 1480787	NM_016553.5(NUP62):c.1088G>A (p.Arg363His)	IL4I1, NUP62 (R363H)	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 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 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 1346784	NM_016553.5(NUP62):c.1045C>T (p.Arg349Trp)	IL4I1, NUP62 (R349W)	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 1946587	NM_016553.5(NUP62):c.993G>A (p.Ala331=)	IL4I1, NUP62	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
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 1435922	NM_016553.5(NUP62):c.991G>A (p.Ala331Thr)	NUP62, IL4I1 (A331T)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 732310	NM_016553.5(NUP62):c.990C>T (p.Tyr330=)	IL4I1, NUP62	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1984767	NM_016553.5(NUP62):c.965C>T (p.Ala322Val)	IL4I1, NUP62 (A322V)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GConflicting classifications of pathogenicity
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 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 2008052	NM_016553.5(NUP62):c.939A>T (p.Pro313=)	IL4I1, NUP62	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1381767	NM_016553.5(NUP62):c.935C>T (p.Ala312Val)	IL4I1, NUP62 (A312V)	Single nucleotide variant (missense variant +1 more)	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 1582500	NM_016553.5(NUP62):c.927C>T (p.Ala309=)	IL4I1, NUP62	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1919495	NM_016553.5(NUP62):c.901G>A (p.Gly301Arg)	IL4I1, NUP62 (G301R)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 756934	NM_016553.5(NUP62):c.900C>T (p.Ala300=)	IL4I1, NUP62	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
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 734246	NM_016553.5(NUP62):c.894G>A (p.Ala298=)	IL4I1, NUP62	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2059924	NM_016553.5(NUP62):c.893C>T (p.Ala298Val)	IL4I1, NUP62 (A298V)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GUncertain significance
Select item 1927771	NM_016553.5(NUP62):c.889C>T (p.Leu297=)	IL4I1, NUP62	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign

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