8066[HGNC] - 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 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 3408851	NM_016553.5(NUP62):c.1465G>A (p.Asp489Asn)	IL4I1, NUP62 (D489N)	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 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)	IL4I1, NUP62 (N479S)	Single nucleotide variant (missense variant +1 more)	not provided +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 3408849	NM_016553.5(NUP62):c.1393G>A (p.Ala465Thr)	IL4I1, NUP62 (A465T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
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 provided +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 (intron variant +1 more)	not provided	GBenign
Select item 3408850	NM_016553.5(NUP62):c.1324G>A (p.Ala442Thr)	IL4I1, NUP62 (A442T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
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 provided +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 3408854	NM_016553.5(NUP62):c.1190T>C (p.Leu397Pro)	IL4I1, NUP62 (L397P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
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 +1 more	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=)	NUP62, IL4I1	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)	IL4I1, NUP62 (A331T)	Single nucleotide variant (missense variant +1 more)	not specified +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 3408853	NM_016553.5(NUP62):c.977C>T (p.Ser326Phe)	IL4I1, NUP62 (S326F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1984767	NM_016553.5(NUP62):c.965C>T (p.Ala322Val)	IL4I1, NUP62 (A322V)	Single nucleotide variant (missense variant +1 more)	not provided +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 provided +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
Select item 1566591	NM_016553.5(NUP62):c.864C>T (p.Thr288=)	IL4I1, NUP62	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 708003	NM_016553.5(NUP62):c.848GCA[5] (p.Ser286_Thr287insSer)	IL4I1, NUP62	Microsatellite (intron variant)	not provided	GBenign
Select item 1942351	NM_016553.5(NUP62):c.858C>T (p.Ser286=)	IL4I1, NUP62	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1930728	NM_016553.5(NUP62):c.851CCA[3] (p.Ser283_Ser284insThrThrThr)	IL4I1, NUP62	Microsatellite (intron variant)	not provided	GUncertain significance
Select item 129849	NM_016553.5(NUP62):c.848G>C (p.Ser283Thr)	IL4I1, NUP62 (S283T)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GBenign
Select item 1912394	NM_016553.5(NUP62):c.836CCA[3] (p.Thr282del)	IL4I1, NUP62 (T282del)	Microsatellite (intron variant)	not provided	GUncertain significance
Select item 1403233	NM_016553.5(NUP62):c.836CCA[2] (p.Thr281_Thr282del)	IL4I1, NUP62	Microsatellite (intron variant)	not provided	GUncertain significance
Select item 1376174	NM_016553.5(NUP62):c.842C>G (p.Thr281Ser)	IL4I1, NUP62 (T281S)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1525726	NM_016553.5(NUP62):c.841A>G (p.Thr281Ala)	IL4I1, NUP62 (T281A)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1437654	NM_016553.5(NUP62):c.823GCCACC[4] (p.Thr280_Thr281insAlaThr)	IL4I1, NUP62	Microsatellite (intron variant)	not provided	GUncertain significance
Select item 2172876	NM_016553.5(NUP62):c.823GCCACC[1] (p.275AT[1])	IL4I1, NUP62	Microsatellite (intron variant)	not provided	GUncertain significance
Select item 1347814	NM_016553.5(NUP62):c.823GCCACC[2] (p.275AT[2])	IL4I1, NUP62	Microsatellite (intron variant)	not provided	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 2050471	NM_016553.5(NUP62):c.838A>C (p.Thr280Pro)	NUP62, IL4I1 (T280P)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 728901	NM_016553.5(NUP62):c.835G>A (p.Ala279Thr)	IL4I1, NUP62 (A279T)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
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 1510962	NM_016553.5(NUP62):c.822_830del (p.Ala275_Ala277del)	IL4I1, NUP62	Deletion (intron variant)	not provided	GUncertain significance
Select item 1601465	NM_016553.5(NUP62):c.828C>T (p.Thr276=)	IL4I1, NUP62	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 1591960	NM_016553.5(NUP62):c.828C>G (p.Thr276=)	IL4I1, NUP62	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
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 1947335	NM_016553.5(NUP62):c.813_821del (p.Ser272_Ala274del)	NUP62, IL4I1	Deletion (intron variant)	not provided	GUncertain significance
Select item 2040770	NM_016553.5(NUP62):c.820G>A (p.Ala274Thr)	IL4I1, NUP62 (A274T)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1933380	NM_016553.5(NUP62):c.819C>T (p.Thr273=)	IL4I1, NUP62	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1924939	NM_016553.5(NUP62):c.814T>C (p.Ser272Pro)	IL4I1, NUP62 (S272P)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 928830	NM_016553.5(NUP62):c.811A>T (p.Thr271Ser)	IL4I1, NUP62 (T271S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2195180	NM_016553.5(NUP62):c.802_804del (p.Ser268del)	NUP62, IL4I1 (S268del)	Deletion (intron variant)	not provided	GUncertain significance
Select item 928829	NM_016553.5(NUP62):c.796G>A (p.Gly266Ser)	IL4I1, NUP62 (G266S)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GUncertain significance
Select item 750243	NM_016553.5(NUP62):c.795C>T (p.Ser265=)	IL4I1, NUP62	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
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

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