NUP93[gene] - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 1 to 100 of 238

<< First< Prev

Page of 3

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1184380	Single allele	SLC38A7, SLC6A2 +519 more	Duplication	not provided	GPathogenic
Select item 155685	GRCh38/hg38 16q12.1-22.1(chr16:49685521-68401712)x3	LINC02168, LINC02169 +675 more	Copy number gain	See cases	GPathogenic
Select item 155358	GRCh38/hg38 16q12.2-24.3(chr16:52899183-90088654)x3	LOC130059466, LOC130059467 +1738 more	Copy number gain	See cases	GPathogenic
Select item 1696636	Single allele	IRX5, IRX6 +189 more	Deletion	not provided	GPathogenic
Select item 144256	GRCh38/hg38 16q12.2-21(chr16:55457477-63841622)x1	ADGRG1, ADGRG3 +244 more	Copy number loss	See cases	GPathogenic
Select item 1291690	NM_014669.5(NUP93):c.-14-316C>T	NUP93	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2579691	NM_014669.5(NUP93):c.-14-1G>A	NUP93	Single nucleotide variant (splice acceptor variant)	Nephrotic syndrome, type 12	GLikely pathogenic
Select item 2129636	NM_014669.5(NUP93):c.82C>A (p.His28Asn)	NUP93 (H28N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 778504	NM_014669.5(NUP93):c.117G>A (p.Ala39=)	NUP93	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 2253939	NM_014669.5(NUP93):c.136C>T (p.Arg46Cys)	NUP93 (R46C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2044893	NM_014669.5(NUP93):c.153G>A (p.Thr51=)	NUP93	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1961556	NM_014669.5(NUP93):c.179+1G>A	NUP93	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
Select item 1635121	NM_014669.5(NUP93):c.179+9T>G	NUP93	Single nucleotide variant (intron variant)	Nephrotic syndrome, type 12 +1 more	GBenign/Likely benign
Select item 1221846	NM_014669.5(NUP93):c.180-90C>G	NUP93	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1640265	NM_014669.5(NUP93):c.180-11T>A	NUP93	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1940757	NM_014669.5(NUP93):c.192C>T (p.Leu64=)	NUP93	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1960051	NM_014669.5(NUP93):c.210C>T (p.Asp70=)	NUP93	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2069893	NM_014669.5(NUP93):c.211A>G (p.Ile71Val)	NUP93 (I71V)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2153332	NM_014669.5(NUP93):c.229C>T (p.Arg77Ter)	NUP93 (R77*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2063116	NM_014669.5(NUP93):c.252C>T (p.Ala84=)	NUP93	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2286341	NM_014669.5(NUP93):c.281A>G (p.Lys94Arg)	NUP93 (K94R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1215493	NM_014669.5(NUP93):c.298-95T>C	NUP93	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1233605	NM_014669.5(NUP93):c.298-86C>T	NUP93	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1903467	NM_014669.5(NUP93):c.298-12C>A	NUP93	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2889087	NM_014669.5(NUP93):c.306G>A (p.Leu102=)	NUP93	Single nucleotide variant (5 prime UTR variant +1 more)	NUP93-related condition +1 more	GBenign/Likely benign
Select item 2297478	NM_014669.5(NUP93):c.325G>A (p.Ala109Thr)	NUP93 (A109T)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2959179	NM_014669.5(NUP93):c.360+20T>G	NUP93	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1197101	NM_014669.5(NUP93):c.360+141G>A	NUP93	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1203457	NM_014669.5(NUP93):c.360+203C>T	NUP93	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1218946	NM_014669.5(NUP93):c.361-70T>A	NUP93	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2280384	NM_014669.5(NUP93):c.367G>A (p.Gly123Ser)	NUP93 (G123S)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1258532	NM_014669.5(NUP93):c.384C>T (p.Tyr128=)	NUP93	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1331518	NM_014669.5(NUP93):c.397A>G (p.Met133Val)	NUP93 (M10V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2699008	NM_014669.5(NUP93):c.453A>G (p.Ser151=)	NUP93	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2593436	NM_014669.5(NUP93):c.463G>A (p.Ala155Thr)	NUP93 (A155T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1803559	NM_014669.5(NUP93):c.481_483del (p.Glu161del)	NUP93 (E161del +1 more)	Deletion (inframe_deletion)	not provided	GUncertain significance
Select item 1202820	NM_014669.5(NUP93):c.489+41A>G	NUP93	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1205314	NM_014669.5(NUP93):c.489+276C>T	NUP93	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1196425	NM_014669.5(NUP93):c.490-284A>G	NUP93	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1227160	NM_014669.5(NUP93):c.490-265A>C	NUP93	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1240519	NM_014669.5(NUP93):c.490-187T>C	NUP93	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1987239	NM_014669.5(NUP93):c.490-10_490-7dup	NUP93	Duplication (intron variant)	not provided	GBenign
Select item 3036740	NM_014669.5(NUP93):c.490-3C>T	NUP93	Single nucleotide variant (intron variant)	NUP93-related condition	GLikely benign
Select item 1971833	NM_014669.5(NUP93):c.508G>T (p.Val170Leu)	NUP93 (V47L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2606670	NM_014669.5(NUP93):c.524G>A (p.Arg175Gln)	NUP93 (R175Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2219941	NM_014669.5(NUP93):c.554A>G (p.Tyr185Cys)	NUP93 (Y62C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1200371	NM_014669.5(NUP93):c.558G>A (p.Ala186=)	NUP93	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 2062679	NM_014669.5(NUP93):c.559C>T (p.Arg187Trp)	NUP93 (R64W +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1288542	NM_014669.5(NUP93):c.564+172G>T	NUP93	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1221782	NM_014669.5(NUP93):c.565-224C>T	NUP93	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1344649	NM_014669.5(NUP93):c.575A>G (p.Tyr192Cys)	NUP93 (Y192C +1 more)	Single nucleotide variant (missense variant)	Nephrotic syndrome	GLikely pathogenic
Select item 2050514	NM_014669.5(NUP93):c.585A>G (p.Lys195=)	NUP93	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2523643	NM_014669.5(NUP93):c.595G>A (p.Gly199Arg)	NUP93 (G199R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 829938	NM_014669.5(NUP93):c.621C>G (p.Asp207Glu)	NUP93 (D84E +1 more)	Single nucleotide variant (missense variant)	Nephrotic syndrome, type 12 +1 more	GUncertain significance
Select item 3058579	NM_014669.5(NUP93):c.633C>T (p.Ser211=)	NUP93	Single nucleotide variant (synonymous variant)	NUP93-related condition	GLikely benign
Select item 735184	NM_014669.5(NUP93):c.636C>T (p.Val212=)	NUP93	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 1266081	NM_014669.5(NUP93):c.645C>G (p.Leu215=)	NUP93	Single nucleotide variant (synonymous variant)	Nephrotic syndrome, type 12 +1 more	GBenign
Select item 1193049	NM_014669.5(NUP93):c.655-179A>C	NUP93	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1208203	NM_014669.5(NUP93):c.655-29T>C	NUP93	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1986853	NM_014669.5(NUP93):c.655-4G>T	NUP93	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2636151	NM_014669.5(NUP93):c.660T>G (p.Ile220Met)	NUP93 (I220M +1 more)	Single nucleotide variant (missense variant)	NUP93-related condition	GUncertain significance
Select item 2397045	NM_014669.5(NUP93):c.664G>A (p.Asp222Asn)	NUP93 (D222N +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2047603	NM_014669.5(NUP93):c.696C>T (p.Asp232=)	NUP93	Single nucleotide variant (synonymous variant)	NUP93-related condition +1 more	GBenign/Likely benign
Select item 3019507	NM_014669.5(NUP93):c.714A>G (p.Ala238=)	NUP93	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2283775	NM_014669.5(NUP93):c.715A>G (p.Thr239Ala)	NUP93 (T239A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 720509	NM_014669.5(NUP93):c.716C>T (p.Thr239Met)	NUP93 (T116M +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign/Likely benign
Select item 2456572	NM_014669.5(NUP93):c.724C>G (p.Leu242Val)	NUP93 (L242V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2646549	NM_014669.5(NUP93):c.744G>T (p.Val248=)	NUP93	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2204250	NM_014669.5(NUP93):c.752G>A (p.Arg251His)	NUP93 (R251H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 829939	NM_014669.5(NUP93):c.755T>A (p.Met252Lys)	NUP93 (M129K +1 more)	Single nucleotide variant (missense variant)	Nephrotic syndrome, type 12	GUncertain significance
Select item 710087	NM_014669.5(NUP93):c.789G>A (p.Glu263=)	NUP93	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 749780	NM_014669.5(NUP93):c.790C>G (p.Gln264Glu)	NUP93 (Q264E +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 2710773	NM_014669.5(NUP93):c.874T>C (p.Leu292=)	NUP93	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1310508	NM_014669.5(NUP93):c.910C>T (p.Pro304Ser)	NUP93 (P181S +1 more)	Single nucleotide variant (missense variant)	Nephrotic syndrome, type 12 +1 more	GUncertain significance
Select item 2167198	NM_014669.5(NUP93):c.923T>C (p.Leu308Pro)	NUP93 (L308P +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1246999	NM_014669.5(NUP93):c.927+6G>A	NUP93	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3055178	NM_014669.5(NUP93):c.927+10A>G	NUP93	Single nucleotide variant (intron variant)	NUP93-related condition	GLikely benign
Select item 1230299	NM_014669.5(NUP93):c.927+51C>T	NUP93	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1237602	NM_014669.5(NUP93):c.927+194C>T	NUP93	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1177773	NM_014669.5(NUP93):c.927+208T>C	NUP93	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1321712	NM_014669.5(NUP93):c.928-146G>A	NUP93	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1248901	NM_014669.5(NUP93):c.928-42C>T	NUP93	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1206495	NM_014669.5(NUP93):c.928-41T>C	NUP93	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1374683	NM_014669.5(NUP93):c.944G>A (p.Gly315Asp)	NUP93 (G315D +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3053725	NM_014669.5(NUP93):c.960G>A (p.Ala320=)	NUP93	Single nucleotide variant (synonymous variant)	NUP93-related condition	GLikely benign
Select item 2176007	NM_014669.5(NUP93):c.990C>A (p.Asp330Glu)	NUP93 (D207E +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2025847	NM_014669.5(NUP93):c.997G>A (p.Ala333Thr)	NUP93 (A210T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1599533	NM_014669.5(NUP93):c.999C>T (p.Ala333=)	NUP93	Single nucleotide variant (synonymous variant)	NUP93-related condition +1 more	GBenign/Likely benign
Select item 3035470	NM_014669.5(NUP93):c.1000G>A (p.Ala334Thr)	NUP93 (A211T +1 more)	Single nucleotide variant (missense variant)	NUP93-related condition	GLikely benign
Select item 1700459	NM_014669.5(NUP93):c.1001C>T (p.Ala334Val)	NUP93 (A211V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 744334	NM_014669.5(NUP93):c.1002T>C (p.Ala334=)	NUP93	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 744335	NM_014669.5(NUP93):c.1011A>G (p.Val337=)	NUP93	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2237823	NM_014669.5(NUP93):c.1074C>A (p.Ser358Arg)	NUP93 (S235R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1250567	NM_014669.5(NUP93):c.1085+21C>T	NUP93	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1254588	NM_014669.5(NUP93):c.1085+215C>T	NUP93	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1206970	NM_014669.5(NUP93):c.1086-49G>T	NUP93	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1433779	NM_014669.5(NUP93):c.1100C>T (p.Thr367Met)	NUP93 (T244M +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3023299	NM_014669.5(NUP93):c.1126C>T (p.Arg376Cys)	NUP93 (R376C +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2966135	NM_014669.5(NUP93):c.1142A>G (p.Asn381Ser)	NUP93 (N258S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 224968	NM_014669.5(NUP93):c.1162C>T (p.Arg388Trp)	NUP93 (R388W +1 more)	Single nucleotide variant (missense variant)	Nephrotic syndrome, type 12 +2 more	GConflicting classifications of pathogenicity

<< First< Prev

Page of 3