NUP153[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58124	GRCh38/hg38 6p25.3-22.3(chr6:106431-18360595)x3	ADTRP, ATXN1 +823 more	Copy number gain	See cases	GPathogenic
Select item 155430	GRCh38/hg38 6p25.3-12.3(chr6:156974-46789291)x3	LOC110121220, LOC110121246 +2579 more	Copy number gain	See cases	GPathogenic
Select item 150044	GRCh38/hg38 6p25.2-21.33(chr6:3224310-30657190)x3	ABCF1, ABT1 +1340 more	Copy number gain	See cases	GPathogenic
Select item 152197	GRCh38/hg38 6p23-22.3(chr6:14958760-18580908)x3	ATXN1, ATXN1-AS1 +162 more	Copy number gain	See cases	GUncertain significance
Select item 57174	GRCh38/hg38 6p22.3(chr6:17397932-17966557)x3	CAP2, FAM8A1 +17 more	Copy number gain	See cases	GUncertain significance
Select item 2656257	NM_005124.4(NUP153):c.4392T>G (p.Gly1464=)	NUP153	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2596316	NM_005124.4(NUP153):c.4361T>C (p.Val1454Ala)	NUP153 (V1412A +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2271165	NM_005124.4(NUP153):c.4351G>T (p.Gly1451Trp)	NUP153 (G1409W +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3202982	NM_005124.4(NUP153):c.4271C>T (p.Pro1424Leu)	NUP153 (P1382L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3202981	NM_005124.4(NUP153):c.4255G>A (p.Ala1419Thr)	NUP153 (A1419T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2473059	NM_005124.4(NUP153):c.4214A>G (p.Asn1405Ser)	NUP153 (N1363S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 777401	NM_005124.4(NUP153):c.4162A>G (p.Thr1388Ala)	NUP153 (T1388A +2 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3202980	NM_005124.4(NUP153):c.4117G>A (p.Val1373Met)	NUP153 (V1373M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3202979	NM_005124.4(NUP153):c.4018G>T (p.Gly1340Cys)	NUP153 (G1340C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2495516	NM_005124.4(NUP153):c.3965A>G (p.Asn1322Ser)	NUP153 (N1322S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2359915	NM_005124.4(NUP153):c.3962C>T (p.Ala1321Val)	NUP153 (A1352V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2372013	NM_005124.4(NUP153):c.3883A>G (p.Thr1295Ala)	NUP153 (T1326A +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3202978	NM_005124.4(NUP153):c.3851C>T (p.Thr1284Ile)	NUP153 (T1242I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3202977	NM_005124.4(NUP153):c.3848A>G (p.Asn1283Ser)	NUP153 (N1241S +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2227647	NM_005124.4(NUP153):c.3833G>A (p.Gly1278Glu)	NUP153 (G1309E +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2260953	NM_005124.4(NUP153):c.3774C>G (p.Ser1258Arg)	NUP153 (S1289R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2601177	NM_005124.4(NUP153):c.3703G>A (p.Val1235Met)	NUP153 (V1193M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2349772	NM_005124.4(NUP153):c.3659A>G (p.Asn1220Ser)	NUP153 (N1251S +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3202976	NM_005124.4(NUP153):c.3556G>A (p.Ala1186Thr)	NUP153 (A1144T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 774864	NM_005124.4(NUP153):c.3426A>G (p.Lys1142=)	NUP153	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2656258	NM_005124.4(NUP153):c.3371A>G (p.Asn1124Ser)	NUP153 (N1082S +2 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 770724	NM_005124.4(NUP153):c.3339T>C (p.Ser1113=)	NUP153	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2342868	NM_005124.4(NUP153):c.3289G>A (p.Val1097Met)	NUP153 (V1097M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3202974	NM_005124.4(NUP153):c.3287C>T (p.Ser1096Leu)	NUP153 (S1054L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 777402	NM_005124.4(NUP153):c.3258C>T (p.Asn1086=)	NUP153	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2556092	NM_005124.4(NUP153):c.3232A>C (p.Thr1078Pro)	NUP153 (T1036P +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3202973	NM_005124.4(NUP153):c.3229G>T (p.Ala1077Ser)	NUP153 (A1077S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2274385	NM_005124.4(NUP153):c.3190A>G (p.Thr1064Ala)	NUP153 (T1022A +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3202972	NM_005124.4(NUP153):c.3158T>G (p.Ile1053Arg)	NUP153 (I1011R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2384103	NM_005124.4(NUP153):c.3158T>C (p.Ile1053Thr)	NUP153 (I1053T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2316819	NM_005124.4(NUP153):c.3047A>G (p.Lys1016Arg)	NUP153 (K974R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2322281	NM_005124.4(NUP153):c.3037G>A (p.Glu1013Lys)	NUP153 (E1013K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2310785	NM_005124.4(NUP153):c.3034G>C (p.Glu1012Gln)	NUP153 (E970Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3202971	NM_005124.4(NUP153):c.3017G>A (p.Gly1006Glu)	NUP153 (G1037E +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3202969	NM_005124.4(NUP153):c.2981C>G (p.Ser994Cys)	NUP153 (S1025C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3202968	NM_005124.4(NUP153):c.2876T>G (p.Phe959Cys)	NUP153 (F990C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2300460	NM_005124.4(NUP153):c.2813C>T (p.Ser938Phe)	NUP153 (S896F +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 782704	NM_005124.4(NUP153):c.2801T>C (p.Ile934Thr)	NUP153 (I892T +2 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2324846	NM_005124.4(NUP153):c.2667C>G (p.Asp889Glu)	NUP153 (D920E +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2456190	NM_005124.4(NUP153):c.2636C>G (p.Pro879Arg)	NUP153 (P837R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2362735	NM_005124.4(NUP153):c.2554G>A (p.Glu852Lys)	NUP153 (E810K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2303942	NM_005124.4(NUP153):c.2447G>A (p.Cys816Tyr)	NUP153 (C774Y +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2656259	NM_005124.4(NUP153):c.2433T>C (p.Asn811=)	NUP153	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3202967	NM_005124.4(NUP153):c.2387C>A (p.Ser796Tyr)	NUP153 (S754Y +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2379693	NM_005124.4(NUP153):c.2372A>G (p.Lys791Arg)	NUP153 (K822R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2368889	NM_005124.4(NUP153):c.2282C>G (p.Thr761Arg)	NUP153 (T719R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3202965	NM_005124.4(NUP153):c.2267G>A (p.Arg756Gln)	NUP153 (R714Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2270095	NM_005124.4(NUP153):c.2258G>C (p.Cys753Ser)	NUP153 (C784S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2314466	NM_005124.4(NUP153):c.2218A>G (p.Ile740Val)	NUP153 (I740V +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3202964	NM_005124.4(NUP153):c.2160A>T (p.Lys720Asn)	NUP153 (K678N +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2322509	NM_005124.4(NUP153):c.2111G>T (p.Gly704Val)	NUP153 (G662V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2278621	NM_005124.4(NUP153):c.2083A>G (p.Thr695Ala)	NUP153 (T653A +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2381827	NM_005124.4(NUP153):c.2074G>A (p.Ala692Thr)	NUP153 (A692T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2462472	NM_005124.4(NUP153):c.2039C>G (p.Ala680Gly)	NUP153 (A711G +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2361702	NM_005124.4(NUP153):c.1948A>G (p.Ile650Val)	NUP153 (I608V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2334131	NM_005124.4(NUP153):c.1929T>G (p.Ser643Arg)	NUP153 (S601R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2334141	NM_005124.4(NUP153):c.1901C>G (p.Pro634Arg)	NUP153 (P634R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2300085	NM_005124.4(NUP153):c.1873G>T (p.Val625Phe)	NUP153 (V583F +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 775229	NM_005124.4(NUP153):c.1869T>G (p.Asp623Glu)	NUP153 (D623E +2 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2602551	NM_005124.4(NUP153):c.1862A>G (p.Lys621Arg)	NUP153 (K621R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3202963	NM_005124.4(NUP153):c.1852G>C (p.Ala618Pro)	NUP153 (A576P +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3202962	NM_005124.4(NUP153):c.1852G>A (p.Ala618Thr)	NUP153 (A576T +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 719708	NM_005124.4(NUP153):c.1829A>C (p.Asp610Ala)	NUP153 (D610A +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 3202961	NM_005124.4(NUP153):c.1828G>T (p.Asp610Tyr)	NUP153 (D610Y +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2324420	NM_005124.4(NUP153):c.1733C>T (p.Thr578Ile)	NUP153 (T578I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2315014	NM_005124.4(NUP153):c.1705A>G (p.Ile569Val)	NUP153 (I600V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 736838	NM_005124.4(NUP153):c.1658T>C (p.Val553Ala)	NUP153 (V553A +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2598428	NM_005124.4(NUP153):c.1603A>G (p.Thr535Ala)	NUP153 (T535A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 769677	NM_005124.4(NUP153):c.1533+10C>T	NUP153	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2215257	NM_005124.4(NUP153):c.1508A>G (p.Asn503Ser)	NUP153 (N503S +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2378640	NM_005124.4(NUP153):c.1454C>T (p.Pro485Leu)	NUP153 (P485L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3234120	NM_005124.4(NUP153):c.1433C>T (p.Pro478Leu)	NUP153 (P478L +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3202960	NM_005124.4(NUP153):c.1426T>C (p.Ser476Pro)	NUP153 (S476P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3202959	NM_005124.4(NUP153):c.1369G>T (p.Val457Phe)	NUP153 (V457F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2361156	NM_005124.4(NUP153):c.1256A>C (p.Glu419Ala)	NUP153 (E419A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2251941	NM_005124.4(NUP153):c.1240C>A (p.Pro414Thr)	NUP153 (P414T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2266573	NM_005124.4(NUP153):c.1169C>T (p.Ser390Phe)	LOC123620063, NUP153 (S390F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1696858	NM_005124.4(NUP153):c.938A>T (p.Gln313Leu)	NUP153 (Q313L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2270333	NM_005124.4(NUP153):c.860T>C (p.Val287Ala)	NUP153 (V287A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2557878	NM_005124.4(NUP153):c.848A>G (p.Tyr283Cys)	NUP153 (Y283C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3202987	NM_005124.4(NUP153):c.772C>A (p.Pro258Thr)	NUP153 (P258T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2557877	NM_005124.4(NUP153):c.746T>G (p.Leu249Arg)	NUP153 (L249R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3202984	NM_005124.4(NUP153):c.628C>G (p.Pro210Ala)	NUP153 (P210A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2487758	NM_005124.4(NUP153):c.586A>G (p.Ile196Val)	NUP153 (I196V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2623610	NM_005124.4(NUP153):c.433G>A (p.Ala145Thr)	NUP153 (A145T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2494774	NM_005124.4(NUP153):c.410A>G (p.Asn137Ser)	NUP153 (N137S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2299101	NM_005124.4(NUP153):c.407T>A (p.Leu136Gln)	NUP153 (L136Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2296591	NM_005124.4(NUP153):c.395A>G (p.His132Arg)	NUP153 (H132R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2566713	NM_005124.4(NUP153):c.380C>G (p.Thr127Arg)	NUP153 (T127R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2279215	NM_005124.4(NUP153):c.380C>T (p.Thr127Ile)	NUP153 (T127I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2380437	NM_005124.4(NUP153):c.276G>C (p.Glu92Asp)	NUP153 (E92D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2333453	NM_005124.4(NUP153):c.272A>G (p.Glu91Gly)	NUP153 (E91G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 771390	NM_005124.4(NUP153):c.267C>T (p.Ala89=)	NUP153	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 773466	NM_005124.4(NUP153):c.95G>A (p.Gly32Glu)	NUP153, NUP153-AS1 (G32E)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GBenign/Likely benign
Select item 3202988	NM_005124.4(NUP153):c.83C>T (p.Pro28Leu)	NUP153, NUP153-AS1 (P28L)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance

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