NUP133[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155660	GRCh38/hg38 1q32.2-44(chr1:207346642-248930485)x3	ABCB10, ACBD3 +1428 more	Copy number gain	See cases	GPathogenic
Select item 58116	GRCh38/hg38 1q32.2-44(chr1:209646207-248931113)x3	LOC120908923, LOC120947224 +1352 more	Copy number gain	See cases	GPathogenic
Select item 145652	GRCh38/hg38 1q32.2-44(chr1:209963625-248918469)x3	ABCB10, ACBD3 +1326 more	Copy number gain	See cases	GPathogenic
Select item 57302	GRCh38/hg38 1q32.3-44(chr1:214023812-248918469)x3	LOC129932855, LOC129932856 +1168 more	Copy number gain	See cases	GPathogenic
Select item 57010	GRCh38/hg38 1q41-44(chr1:223347693-248918469)x3	TARBP1, TBCE +968 more	Copy number gain	See cases	GPathogenic
Select item 146575	GRCh38/hg38 1q41-44(chr1:223815147-248918469)x3	LINC02765, LINC02768 +955 more	Copy number gain	See cases	GPathogenic
Select item 58133	GRCh38/hg38 1q41-44(chr1:223828500-248891309)x3	LOC440742, LYPD8 +955 more	Copy number gain	See cases	GPathogenic
Select item 58135	GRCh38/hg38 1q41-44(chr1:223887780-248891309)x3	ABCB10, ACBD3 +953 more	Copy number gain	See cases	GPathogenic
Select item 148701	GRCh38/hg38 1q42.11-44(chr1:224022862-248918469)x3	LOC129932825, LOC129932826 +952 more	Copy number gain	See cases	GPathogenic
Select item 58137	GRCh38/hg38 1q42.11-44(chr1:224096488-248918469)x3	LOC129932658, LOC129932659 +950 more	Copy number gain	See cases	GPathogenic
Select item 155156	GRCh38/hg38 1q42.12-42.13(chr1:225382172-230418801)x1	ABCB10, ACBD3 +309 more	Copy number loss	See cases	GPathogenic
Select item 154381	GRCh38/hg38 1q42.12-44(chr1:225438480-248787200)x3	LOC126806053, LOC126806054 +870 more	Copy number gain	See cases	GPathogenic
Select item 146517	GRCh38/hg38 1q42.12-42.2(chr1:226185124-232872488)x1	ABCB10, ACBD3 +313 more	Copy number loss	See cases	GPathogenic
Select item 147487	GRCh38/hg38 1q42.13-44(chr1:229022909-248918469)x3	ABCB10, ACTA1 +656 more	Copy number gain	See cases	GPathogenic
Select item 1958230	NM_018230.3(NUP133):c.3449A>G (p.Tyr1150Cys)	NUP133 (Y1150C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 100870	NM_018230.3(NUP133):c.3432G>C (p.Leu1144Phe)	NUP133 (L1144F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2640062	NM_018230.3(NUP133):c.3420C>T (p.Phe1140=)	NUP133	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3202953	NM_018230.3(NUP133):c.3410A>G (p.Asn1137Ser)	NUP133 (N1137S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2548501	NM_018230.3(NUP133):c.3405G>T (p.Lys1135Asn)	NUP133 (K1135N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2134563	NM_018230.3(NUP133):c.3404A>C (p.Lys1135Thr)	NUP133 (K1135T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2715206	NM_018230.3(NUP133):c.3399C>T (p.Ser1133=)	NUP133	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2214655	NM_018230.3(NUP133):c.3398G>T (p.Ser1133Ile)	NUP133 (S1133I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2072071	NM_018230.3(NUP133):c.3384G>A (p.Ala1128=)	NUP133	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2582872	NM_018230.3(NUP133):c.3383C>A (p.Ala1128Glu)	NUP133 (A1128E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2909814	NM_018230.3(NUP133):c.3363G>A (p.Glu1121=)	NUP133	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3023278	NM_018230.3(NUP133):c.3360G>A (p.Pro1120=)	NUP133	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1414917	NM_018230.3(NUP133):c.3359C>T (p.Pro1120Leu)	NUP133 (P1120L)	Single nucleotide variant (missense variant)	not specified +2 more	GUncertain significance
Select item 2170311	NM_018230.3(NUP133):c.3335-4A>G	NUP133	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 619944	NM_018230.3(NUP133):c.3335-11T>A	NUP133	Single nucleotide variant (intron variant)	Galloway-Mowat syndrome 8	GPathogenic
Select item 1990886	NM_018230.3(NUP133):c.3335-18T>G	NUP133	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3337412	NM_018230.3(NUP133):c.3334+1G>T	NUP133	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
Select item 1952753	NM_018230.3(NUP133):c.3309G>A (p.Lys1103=)	NUP133	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1029681	NM_018230.3(NUP133):c.3299T>C (p.Ile1100Thr)	NUP133 (I1100T)	Single nucleotide variant (missense variant)	Nephrotic syndrome, type 18	GUncertain significance
Select item 3202952	NM_018230.3(NUP133):c.3254G>A (p.Ser1085Asn)	NUP133 (S1085N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1630526	NM_018230.3(NUP133):c.3207A>G (p.Leu1069=)	NUP133	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1961245	NM_018230.3(NUP133):c.3205C>G (p.Leu1069Val)	NUP133 (L1069V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3052321	NM_018230.3(NUP133):c.3181-7T>C	NUP133	Single nucleotide variant (intron variant)	NUP133-related disorder	GLikely benign
Select item 2975381	NM_018230.3(NUP133):c.3180+9A>C	NUP133	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2087014	NM_018230.3(NUP133):c.3175G>A (p.Asp1059Asn)	NUP133 (D1059N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2167876	NM_018230.3(NUP133):c.3170A>G (p.Tyr1057Cys)	NUP133 (Y1057C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 590320	NM_018230.3(NUP133):c.3164T>C (p.Leu1055Ser)	NUP133 (L1055S)	Single nucleotide variant (missense variant)	Nephrotic syndrome, type 18 +1 more	GConflicting classifications of pathogenicity
Select item 2059809	NM_018230.3(NUP133):c.3100C>T (p.Leu1034=)	NUP133	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2819908	NM_018230.3(NUP133):c.3100-17A>T	NUP133	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2972888	NM_018230.3(NUP133):c.3099+8del	NUP133	Deletion (intron variant)	not provided	GLikely benign
Select item 2081637	NM_018230.3(NUP133):c.3098G>A (p.Gly1033Asp)	NUP133 (G1033D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1333502	NM_018230.3(NUP133):c.3095T>C (p.Ile1032Thr)	NUP133 (I1032T)	Single nucleotide variant (missense variant)	Nephrotic syndrome, type 18	GUncertain significance
Select item 2359018	NM_018230.3(NUP133):c.3080C>G (p.Thr1027Ser)	NUP133 (T1027S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2913302	NM_018230.3(NUP133):c.3079A>G (p.Thr1027Ala)	NUP133 (T1027A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2079068	NM_018230.3(NUP133):c.3072A>G (p.Pro1024=)	NUP133	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 2055462	NM_018230.3(NUP133):c.3066G>A (p.Ala1022=)	NUP133	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1049290	NM_018230.3(NUP133):c.3065C>T (p.Ala1022Val)	NUP133 (A1022V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3301453	NM_018230.3(NUP133):c.3045G>C (p.Glu1015Asp)	NUP133 (E1015D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2974975	NM_018230.3(NUP133):c.3042G>A (p.Ala1014=)	NUP133	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3301452	NM_018230.3(NUP133):c.3041C>T (p.Ala1014Val)	NUP133 (A1014V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2204156	NM_018230.3(NUP133):c.2999G>A (p.Arg1000His)	NUP133 (R1000H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2747269	NM_018230.3(NUP133):c.2997G>A (p.Glu999=)	NUP133	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 996957	NM_018230.3(NUP133):c.2992dup (p.Gln998fs)	NUP133 (Q998fs)	Duplication (frameshift variant)	Galloway-Mowat syndrome 8	GLikely pathogenic
Select item 1916452	NM_018230.3(NUP133):c.2981-17C>T	NUP133	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1900349	NM_018230.3(NUP133):c.2981-19C>T	NUP133	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 590321	NM_018230.3(NUP133):c.2922T>G (p.Ser974Arg)	NUP133 (S974R)	Single nucleotide variant (missense variant)	Nephrotic syndrome, type 18	GLikely pathogenic
Select item 1626466	NM_018230.3(NUP133):c.2885G>A (p.Arg962His)	NUP133 (R962H)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2789503	NM_018230.3(NUP133):c.2854A>G (p.Thr952Ala)	NUP133 (T952A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1524905	NM_018230.3(NUP133):c.2848C>T (p.His950Tyr)	NUP133 (H950Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2241287	NM_018230.3(NUP133):c.2840A>G (p.Glu947Gly)	NUP133 (E947G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2478877	NM_018230.3(NUP133):c.2819A>G (p.Glu940Gly)	NUP133 (E940G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1945440	NM_018230.3(NUP133):c.2793T>C (p.Ala931=)	NUP133	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2843950	NM_018230.3(NUP133):c.2735_2737del (p.Gly912_Lys913delinsGlu)	NUP133	Deletion (inframe_indel)	not provided	GUncertain significance
Select item 2459082	NM_018230.3(NUP133):c.2708G>A (p.Arg903His)	NUP133 (R903H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1949978	NM_018230.3(NUP133):c.2687A>G (p.Asn896Ser)	NUP133 (N896S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2510110	NM_018230.3(NUP133):c.2659C>T (p.Arg887Cys)	NUP133 (R887C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1944007	NM_018230.3(NUP133):c.2651G>A (p.Arg884Gln)	NUP133 (R884Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1960534	NM_018230.3(NUP133):c.2593A>G (p.Lys865Glu)	NUP133 (K865E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2622466	NM_018230.3(NUP133):c.2590G>C (p.Glu864Gln)	NUP133 (E864Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2212226	NM_018230.3(NUP133):c.2581T>G (p.Ser861Ala)	NUP133 (S861A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1575600	NM_018230.3(NUP133):c.2561G>A (p.Gly854Asp)	NUP133 (G854D)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1579317	NM_018230.3(NUP133):c.2552-16T>G	NUP133	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2356395	NM_018230.3(NUP133):c.2486G>A (p.Arg829Gln)	NUP133 (R829Q)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2265620	NM_018230.3(NUP133):c.2485C>T (p.Arg829Trp)	NUP133 (R829W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2597824	NM_018230.3(NUP133):c.2479A>G (p.Ser827Gly)	NUP133 (S827G)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2621015	NM_018230.3(NUP133):c.2425A>T (p.Ile809Phe)	NUP133 (I809F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2222219	NM_018230.3(NUP133):c.2416G>A (p.Val806Ile)	NUP133 (V806I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2061079	NM_018230.3(NUP133):c.2415G>C (p.Leu805=)	NUP133	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2210528	NM_018230.3(NUP133):c.2412G>C (p.Gln804His)	NUP133 (Q804H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2074331	NM_018230.3(NUP133):c.2406C>T (p.Thr802=)	NUP133	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2077928	NM_018230.3(NUP133):c.2401G>A (p.Val801Met)	NUP133 (V801M)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 1899230	NM_018230.3(NUP133):c.2366C>G (p.Ala789Gly)	NUP133 (A789G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1352523	NM_018230.3(NUP133):c.2362G>T (p.Val788Leu)	NUP133 (V788L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2507431	NM_018230.3(NUP133):c.2360A>G (p.Lys787Arg)	NUP133 (K787R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3054052	NM_018230.3(NUP133):c.2355C>T (p.Val785=)	NUP133	Single nucleotide variant (synonymous variant)	NUP133-related disorder	GLikely benign
Select item 2080638	NM_018230.3(NUP133):c.2328G>A (p.Thr776=)	NUP133	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1606198	NM_018230.3(NUP133):c.2300-5C>T	NUP133	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1913412	NM_018230.3(NUP133):c.2299+14TTA[3]	NUP133	Microsatellite (intron variant)	not provided	GLikely benign
Select item 2192928	NM_018230.3(NUP133):c.2299+5T>C	NUP133	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1905313	NM_018230.3(NUP133):c.2297C>T (p.Thr766Met)	NUP133 (T766M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1567867	NM_018230.3(NUP133):c.2292A>G (p.Pro764=)	NUP133	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3202951	NM_018230.3(NUP133):c.2245T>G (p.Leu749Val)	NUP133 (L749V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2058247	NM_018230.3(NUP133):c.2210A>G (p.Gln737Arg)	NUP133 (Q737R)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1900972	NM_018230.3(NUP133):c.2199+20G>T	NUP133	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2286495	NM_018230.3(NUP133):c.2163G>C (p.Trp721Cys)	NUP133 (W721C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3053071	NM_018230.3(NUP133):c.2157T>C (p.Ile719=)	NUP133	Single nucleotide variant (synonymous variant)	NUP133-related disorder	GLikely benign

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