"GeneDx"[submitter] AND "NUP93"[gene] - ClinVar

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Search results

Items: 72

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1291690	NM_014669.5(NUP93):c.-14-316C>T	NUP93	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1221846	NM_014669.5(NUP93):c.180-90C>G	NUP93	Single nucleotide variant (intron variant)	not provided	GBenign
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 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 1258532	NM_014669.5(NUP93):c.384C>T (p.Tyr128=)	NUP93	Single nucleotide variant (synonymous variant)	not provided	GBenign
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 1200371	NM_014669.5(NUP93):c.558G>A (p.Ala186=)	NUP93	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
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 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)	not provided +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 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 710087	NM_014669.5(NUP93):c.789G>A (p.Glu263=)	NUP93	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely 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 1246999	NM_014669.5(NUP93):c.927+6G>A	NUP93	Single nucleotide variant (intron variant)	not provided	GBenign
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)	Nephrotic syndrome, type 12 +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 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 1250567	NM_014669.5(NUP93):c.1085+21C>T	NUP93	Single nucleotide variant (intron variant)	Nephrotic syndrome, type 12 +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 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
Select item 1296809	NM_014669.5(NUP93):c.1252-11T>C	NUP93	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1182649	NM_014669.5(NUP93):c.1345+202T>C	NUP93	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1203027	NM_014669.5(NUP93):c.1346-63G>A	NUP93	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1230991	NM_014669.5(NUP93):c.1538-263A>C	NUP93	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1227092	NM_014669.5(NUP93):c.1538-236C>T	NUP93	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1218472	NM_014669.5(NUP93):c.1737+116T>C	NUP93	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 736204	NM_014669.5(NUP93):c.1749T>G (p.Ile583Met)	NUP93 (I583M +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 224964	NM_014669.5(NUP93):c.1772G>T (p.Gly591Val)	NUP93 (G591V +1 more)	Single nucleotide variant (missense variant)	Nephrotic syndrome, type 12 +1 more	GPathogenic/Likely pathogenic
Select item 1244143	NM_014669.5(NUP93):c.1782+10A>G	NUP93	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1198652	NM_014669.5(NUP93):c.1783-124G>A	NUP93	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1254456	NM_014669.5(NUP93):c.1783-39G>A	NUP93	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1209076	NM_014669.5(NUP93):c.1899+238A>C	NUP93	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1194578	NM_014669.5(NUP93):c.1899+287G>T	NUP93	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1208506	NM_014669.5(NUP93):c.1900-251G>A	NUP93	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1188546	NM_014669.5(NUP93):c.1900-137G>A	NUP93	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1321681	NM_014669.5(NUP93):c.1985G>A (p.Arg662Lys)	NUP93 (R539K +1 more)	Single nucleotide variant (missense variant)	Nephrotic syndrome, type 12 +1 more	GUncertain significance
Select item 1707175	NM_014669.5(NUP93):c.2018+167C>T	NUP93	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1265955	NM_014669.5(NUP93):c.2019-142C>T	NUP93	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1220062	NM_014669.5(NUP93):c.2019-101G>C	NUP93	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1707184	NM_014669.5(NUP93):c.2019-86T>G	NUP93	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1233732	NM_014669.5(NUP93):c.2019-40G>A	NUP93	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2444723	NM_014669.5(NUP93):c.2150T>C (p.Leu717Ser)	NUP93 (L594S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1264949	NM_014669.5(NUP93):c.2199C>T (p.Ala733=)	NUP93	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1268119	NM_014669.5(NUP93):c.2220+98dup	NUP93	Duplication (intron variant)	not provided	GBenign
Select item 1296815	NM_014669.5(NUP93):c.2220+273T>C	NUP93	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1286663	NM_014669.5(NUP93):c.2221-322G>A	NUP93	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 784341	NM_014669.5(NUP93):c.2335G>A (p.Glu779Lys)	NUP93 (E779K +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign/Likely benign
Select item 1254198	NM_014669.5(NUP93):c.2349+64C>T	NUP93	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1277983	NM_014669.5(NUP93):c.2350-338T>A	NUP93	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1328623	NM_014669.5(NUP93):c.2350-196G>A	NUP93	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1269207	NM_014669.5(NUP93):c.2350-33C>T	NUP93	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1201989	NM_014669.5(NUP93):c.*14T>G	NUP93	Single nucleotide variant (3 prime UTR variant)	not provided	GLikely benign
Select item 1240841	NM_014669.5(NUP93):c.*21C>G	NUP93	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 1190482	NM_014669.5(NUP93):c.*28G>A	NUP93	Single nucleotide variant (3 prime UTR variant)	not provided	GLikely benign
Select item 1277667	NM_014669.5(NUP93):c.*194dup	NUP93	Duplication (3 prime UTR variant)	not provided	GBenign
Select item 1706843	NM_014669.5(NUP93):c.*214T>C	NUP93	Single nucleotide variant (3 prime UTR variant)	not provided	GLikely benign

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Items: 72