NUP160[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 148316	GRCh38/hg38 11p12-11.12(chr11:39179252-49135735)x1	ACCS, ACCSL +265 more	Copy number loss	See cases	GPathogenic
Select item 146079	GRCh38/hg38 11p12-11.2(chr11:41118322-48643003)x1	ACCS, ACCSL +259 more	Copy number loss	See cases	GPathogenic
Select item 150595	GRCh38/hg38 11p12-11.12(chr11:42727555-49135735)x3	ACCS, ACCSL +255 more	Copy number gain	See cases	GLikely pathogenic
Select item 57329	GRCh38/hg38 11p11.2(chr11:46840454-48643003)x1	ACP2, AGBL2 +88 more	Copy number loss	See cases	GPathogenic
Select item 58161	GRCh38/hg38 11p11.2(chr11:47743903-48643003)x3	FNBP4, LOC111464990 +29 more	Copy number gain	See cases	GUncertain significance
Select item 2152720	NM_015231.3(NUP160):c.4168G>C (p.Asp1390His)	NUP160 (D1390H)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3203026	NM_015231.3(NUP160):c.4164A>C (p.Lys1388Asn)	NUP160 (K1388N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1077025	NM_015231.3(NUP160):c.4148_4149del (p.Glu1383fs)	NUP160 (E1417fs +1 more)	Deletion (frameshift variant +1 more)	Nephrotic syndrome, type 19	GPathogenic
Select item 790091	NM_015231.3(NUP160):c.4143A>G (p.Lys1381=)	NUP160	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 2188854	NM_015231.3(NUP160):c.4120-3T>C	NUP160	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2122865	NM_015231.3(NUP160):c.4119+15del	NUP160	Deletion (intron variant)	not provided	GLikely benign
Select item 2204595	NM_015231.3(NUP160):c.4117G>A (p.Ala1373Thr)	NUP160 (A1373T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2017530	NM_015231.3(NUP160):c.4083T>C (p.Ala1361=)	NUP160	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2793626	NM_015231.3(NUP160):c.4080A>G (p.Gln1360=)	NUP160	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2352867	NM_015231.3(NUP160):c.4063A>G (p.Ile1355Val)	NUP160 (I1355V)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 2617561	NM_015231.3(NUP160):c.4061C>T (p.Ser1354Phe)	NUP160 (S1354F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 730008	NM_015231.3(NUP160):c.4056C>T (p.Tyr1352=)	NUP160	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 2957607	NM_015231.3(NUP160):c.4053A>G (p.Pro1351=)	NUP160	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2362999	NM_015231.3(NUP160):c.4039A>G (p.Met1347Val)	NUP160 (M1347V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1953903	NM_015231.3(NUP160):c.4036C>G (p.Pro1346Ala)	NUP160 (P1346A)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1989381	NM_015231.3(NUP160):c.4014+14A>G	NUP160	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1934170	NM_015231.3(NUP160):c.4014+8_4014+9insATGT	NUP160	Insertion (intron variant)	not provided	GLikely benign
Select item 2024975	NM_015231.3(NUP160):c.4012G>A (p.Glu1338Lys)	NUP160 (E1338K)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 1926747	NM_015231.3(NUP160):c.3974A>G (p.Asp1325Gly)	NUP160 (D1325G)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3203024	NM_015231.3(NUP160):c.3946G>A (p.Ala1316Thr)	NUP160 (A1316T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2387714	NM_015231.3(NUP160):c.3926A>C (p.Asn1309Thr)	NUP160 (N1309T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3026879	NM_015231.3(NUP160):c.3908T>G (p.Leu1303Trp)	NUP160 (L1303W)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2857072	NM_015231.3(NUP160):c.3889-14C>T	NUP160	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2993259	NM_015231.3(NUP160):c.3888+7G>C	NUP160	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1960486	NM_015231.3(NUP160):c.3888+6C>T	NUP160	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 3026027	NM_015231.3(NUP160):c.3885C>T (p.Tyr1295=)	NUP160	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2211766	NM_015231.3(NUP160):c.3856C>A (p.Pro1286Thr)	NUP160 (P1286T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2282938	NM_015231.3(NUP160):c.3821A>G (p.His1274Arg)	NUP160 (H1274R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2318446	NM_015231.3(NUP160):c.3813G>T (p.Leu1271Phe)	NUP160 (L1271F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1543512	NM_015231.3(NUP160):c.3789G>A (p.Glu1263=)	NUP160	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2541214	NM_015231.3(NUP160):c.3775T>C (p.Ser1259Pro)	NUP160 (S1259P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3301479	NM_015231.3(NUP160):c.3767G>A (p.Arg1256Gln)	NUP160 (R1256Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2056310	NM_015231.3(NUP160):c.3754G>A (p.Asp1252Asn)	NUP160 (D1252N)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2248015	NM_015231.3(NUP160):c.3748G>A (p.Ala1250Thr)	NUP160 (A1250T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2418607	NM_015231.3(NUP160):c.3747-5del	NUP160	Deletion (intron variant)	not provided	GBenign
Select item 2967030	NM_015231.3(NUP160):c.3747-19C>G	NUP160	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1896012	NM_015231.3(NUP160):c.3747-19C>A	NUP160	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2957058	NM_015231.3(NUP160):c.3747-20T>G	NUP160	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1898761	NM_015231.3(NUP160):c.3746+19A>G	NUP160	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2005474	NM_015231.3(NUP160):c.3746+9C>G	NUP160	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3203023	NM_015231.3(NUP160):c.3739G>A (p.Glu1247Lys)	NUP160 (E1247K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2127446	NM_015231.3(NUP160):c.3717C>A (p.Leu1239=)	NUP160	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2273528	NM_015231.3(NUP160):c.3661T>C (p.Phe1221Leu)	NUP160 (F1221L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3203022	NM_015231.3(NUP160):c.3649A>G (p.Ile1217Val)	NUP160 (I1217V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1988590	NM_015231.3(NUP160):c.3644+15del	NUP160	Deletion (intron variant)	not provided	GBenign
Select item 1638163	NM_015231.3(NUP160):c.3644+15A>T	NUP160	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1908585	NM_015231.3(NUP160):c.3617C>T (p.Thr1206Met)	NUP160 (T1206M)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1394864	NM_015231.3(NUP160):c.3608T>A (p.Leu1203His)	NUP160 (L1203H)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GUncertain significance
Select item 2271627	NM_015231.3(NUP160):c.3584T>C (p.Ile1195Thr)	NUP160 (I1195T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2097608	NM_015231.3(NUP160):c.3574G>C (p.Asp1192His)	NUP160 (D1192H)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2179768	NM_015231.3(NUP160):c.3554T>G (p.Leu1185Trp)	NUP160 (L1185W)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2641769	NM_015231.3(NUP160):c.3546C>A (p.Val1182=)	NUP160	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3203021	NM_015231.3(NUP160):c.3529T>G (p.Ser1177Ala)	NUP160 (S1177A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1943204	NM_015231.3(NUP160):c.3521-15T>C	NUP160	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2603032	NM_015231.3(NUP160):c.3514G>C (p.Val1172Leu)	NUP160 (V1172L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3036144	NM_015231.3(NUP160):c.3510T>G (p.Val1170=)	NUP160	Single nucleotide variant (synonymous variant +1 more)	NUP160-related disorder	GLikely benign
Select item 2543229	NM_015231.3(NUP160):c.3503C>T (p.Ser1168Leu)	NUP160 (S1168L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2043944	NM_015231.3(NUP160):c.3499C>T (p.Pro1167Ser)	NUP160 (P1167S)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2455287	NM_015231.3(NUP160):c.3465G>C (p.Leu1155Phe)	NUP160 (L1155F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3203020	NM_015231.3(NUP160):c.3415C>G (p.Arg1139Gly)	NUP160 (R1139G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3054899	NM_015231.3(NUP160):c.3410-4A>G	NUP160	Single nucleotide variant (intron variant)	NUP160-related disorder	GLikely benign
Select item 3203018	NM_015231.3(NUP160):c.3407C>G (p.Pro1136Arg)	NUP160 (P1136R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1905008	NM_015231.3(NUP160):c.3404C>T (p.Ala1135Val)	NUP160 (A1135V)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2328672	NM_015231.3(NUP160):c.3370C>T (p.Pro1124Ser)	NUP160 (P1124S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3203017	NM_015231.3(NUP160):c.3359C>T (p.Pro1120Leu)	NUP160 (P1120L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2357240	NM_015231.3(NUP160):c.3325G>T (p.Val1109Leu)	NUP160 (V1109L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2471418	NM_015231.3(NUP160):c.3317C>T (p.Ala1106Val)	NUP160 (A1106V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2890837	NM_015231.3(NUP160):c.3305G>A (p.Arg1102His)	NUP160 (R1102H)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2899074	NM_015231.3(NUP160):c.3273T>C (p.Tyr1091=)	NUP160	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2547959	NM_015231.3(NUP160):c.3272A>T (p.Tyr1091Phe)	NUP160 (Y1091F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2821210	NM_015231.3(NUP160):c.3219G>T (p.Arg1073=)	NUP160	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2723203	NM_015231.3(NUP160):c.3219G>C (p.Arg1073=)	NUP160	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2548637	NM_015231.3(NUP160):c.3197T>C (p.Val1066Ala)	NUP160 (V1066A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2908265	NM_015231.3(NUP160):c.3187+9T>C	NUP160	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2478138	NM_015231.3(NUP160):c.3170G>A (p.Arg1057His)	NUP160 (R1057H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2683149	NM_015231.3(NUP160):c.3169C>T (p.Arg1057Cys)	NUP160 (R1057C)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2315902	NM_015231.3(NUP160):c.3132C>A (p.His1044Gln)	NUP160 (H1044Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2326943	NM_015231.3(NUP160):c.3092T>C (p.Ile1031Thr)	NUP160 (I1031T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2886441	NM_015231.3(NUP160):c.3087G>A (p.Val1029=)	NUP160	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3203016	NM_015231.3(NUP160):c.3068A>C (p.Asn1023Thr)	NUP160 (N1023T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2616860	NM_015231.3(NUP160):c.3054G>C (p.Glu1018Asp)	NUP160 (E1018D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2612498	NM_015231.3(NUP160):c.3049G>C (p.Val1017Leu)	NUP160 (V1017L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2397168	NM_015231.3(NUP160):c.3002G>A (p.Arg1001Gln)	NUP160 (R1001Q)	Single nucleotide variant (missense variant +1 more)	NUP160-related disorder +1 more	GUncertain significance
Select item 2176841	NM_015231.3(NUP160):c.2977T>A (p.Ser993Thr)	NUP160 (S993T)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1029371	NM_015231.3(NUP160):c.2968A>G (p.Ile990Val)	NUP160 (I990V)	Single nucleotide variant (missense variant +1 more)	Nephrotic syndrome, type 19	GUncertain significance
Select item 3203015	NM_015231.3(NUP160):c.2951A>G (p.Tyr984Cys)	NUP160 (Y984C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1367562	NM_015231.3(NUP160):c.2918A>G (p.His973Arg)	NUP160 (H973R)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1920123	NM_015231.3(NUP160):c.2889+17A>C	NUP160	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1629717	NM_015231.3(NUP160):c.2869G>A (p.Gly957Ser)	NUP160 (G957S)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 1348166	NM_015231.3(NUP160):c.2861C>T (p.Thr954Ile)	NUP160 (T954I)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2301624	NM_015231.3(NUP160):c.2848A>G (p.Thr950Ala)	NUP160 (T950A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3203014	NM_015231.3(NUP160):c.2840A>G (p.Gln947Arg)	NUP160 (Q947R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1976670	NM_015231.3(NUP160):c.2838T>G (p.Ile946Met)	NUP160 (I946M)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2067914	NM_015231.3(NUP160):c.2794-5G>A	NUP160	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1943041	NM_015231.3(NUP160):c.2793+16G>A	NUP160	Single nucleotide variant (intron variant)	not provided	GLikely benign

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