"GeneDx"[submitter] AND "NUP107"[gene] - ClinVar

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

Search results

Items: 93

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1320404	NC_000012.12:g.68686678C>T	LOC100507250, NUP107	Single nucleotide variant	not provided	GLikely benign
Select item 1198391	NC_000012.12:g.68686813G>C	LOC100507250, NUP107	Single nucleotide variant (non-coding transcript variant)	not provided	GLikely benign
Select item 1222965	NC_000012.12:g.68686836A>G	LOC100507250, NUP107	Single nucleotide variant (non-coding transcript variant)	not provided	GBenign
Select item 1269166	NC_000012.12:g.68686948T>G	NUP107	Single nucleotide variant	not provided +1 more	GBenign
Select item 1260392	NM_020401.4(NUP107):c.9-146G>A	NUP107	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1201224	NM_020401.4(NUP107):c.9-91del	NUP107	Deletion (intron variant)	not provided	GLikely benign
Select item 1272631	NM_020401.4(NUP107):c.9-73A>G	NUP107	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1281812	NM_020401.4(NUP107):c.72G>A (p.Arg24=)	NUP107	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +3 more	GBenign
Select item 1269304	NM_020401.4(NUP107):c.101-76A>G	NUP107	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1247966	NM_020401.4(NUP107):c.188-285C>T	NUP107	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1271355	NM_020401.4(NUP107):c.188-139A>G	NUP107	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1288279	NM_020401.4(NUP107):c.303+15A>G	NUP107	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
Select item 1225451	NM_020401.4(NUP107):c.303+206T>C	NUP107	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1269559	NM_020401.4(NUP107):c.303+244G>A	NUP107	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1227616	NM_020401.4(NUP107):c.304-263G>A	NUP107	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1280348	NM_020401.4(NUP107):c.304-127dup	NUP107	Duplication (intron variant)	not provided	GBenign
Select item 1195786	NM_020401.4(NUP107):c.304-112dup	NUP107	Duplication (intron variant)	not provided	GLikely benign
Select item 1193360	NM_020401.4(NUP107):c.304-112del	NUP107	Deletion (intron variant)	not provided	GLikely benign
Select item 1693068	NM_020401.4(NUP107):c.305T>A (p.Val102Asp)	NUP107 (V102D +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 709091	NM_020401.4(NUP107):c.357C>T (p.Ser119=)	NUP107	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 1203885	NM_020401.4(NUP107):c.448+202C>T	NUP107	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1211573	NM_020401.4(NUP107):c.448+300C>G	NUP107	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1190841	NM_020401.4(NUP107):c.449-336C>T	NUP107	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1243225	NM_020401.4(NUP107):c.449-250T>C	NUP107	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1683922	NM_020401.4(NUP107):c.449-239G>A	NUP107	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1328665	NM_020401.4(NUP107):c.449-145T>C	NUP107	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1233029	NM_020401.4(NUP107):c.449-13dup	NUP107	Duplication (intron variant)	not specified +1 more	GBenign
Select item 1207608	NM_020401.4(NUP107):c.534A>G (p.Glu178=)	NUP107	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 1253550	NM_020401.4(NUP107):c.552+52A>G	NUP107	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1290679	NM_020401.4(NUP107):c.552+101G>C	NUP107	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1200611	NM_020401.4(NUP107):c.654A>G (p.Thr218=)	NUP107	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 1193317	NM_020401.4(NUP107):c.681-204T>C	NUP107	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1179459	NM_020401.4(NUP107):c.681-118A>G	NUP107	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1266429	NM_020401.4(NUP107):c.729+76dup	NUP107	Duplication (intron variant)	not provided	GBenign
Select item 1191422	NM_020401.4(NUP107):c.729+250C>T	NUP107	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1207090	NM_020401.4(NUP107):c.729+251G>A	NUP107	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1288480	NM_020401.4(NUP107):c.730-292T>C	NUP107	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1248954	NM_020401.4(NUP107):c.801+65A>G	NUP107	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1229392	NM_020401.4(NUP107):c.801+109C>G	NUP107	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1183746	NM_020401.4(NUP107):c.802-243G>A	NUP107	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1294525	NM_020401.4(NUP107):c.802-106dup	NUP107	Duplication (intron variant)	not provided	GBenign
Select item 1279458	NM_020401.4(NUP107):c.891-237G>A	NUP107	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2497918	NM_020401.4(NUP107):c.920G>A (p.Arg307Gln)	NUP107 (R278Q +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1280541	NM_020401.4(NUP107):c.929CTT[1] (p.Ser311del)	NUP107 (S282del +1 more)	Microsatellite (inframe_deletion)	not provided	GBenign
Select item 1225582	NM_020401.4(NUP107):c.969+191G>C	NUP107	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1227735	NM_020401.4(NUP107):c.970-322T>C	NUP107	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1215486	NM_020401.4(NUP107):c.970-176G>A	NUP107	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1212626	NM_020401.4(NUP107):c.970-63G>T	NUP107	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1243975	NM_020401.4(NUP107):c.1083+97T>C	NUP107	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
Select item 1260532	NM_020401.4(NUP107):c.1084-89A>G	NUP107	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 773026	NM_020401.4(NUP107):c.1147C>T (p.Leu383=)	NUP107	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 1579642	NM_020401.4(NUP107):c.1174+17del	NUP107	Deletion (intron variant)	not provided	GBenign/Likely benign
Select item 1320903	NM_020401.4(NUP107):c.1178C>A (p.Thr393Lys)	NUP107 (T364K +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2497916	NM_020401.4(NUP107):c.1181A>G (p.Glu394Gly)	NUP107 (E365G +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1187596	NM_020401.4(NUP107):c.1252-27A>G	NUP107	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1183004	NM_020401.4(NUP107):c.1311+298A>G	NUP107	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1181233	NM_020401.4(NUP107):c.1312-125T>A	NUP107	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1234651	NM_020401.4(NUP107):c.1389G>A (p.Gln463=)	NUP107	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign
Select item 1212801	NM_020401.4(NUP107):c.1506+123T>C	NUP107	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1233911	NM_020401.4(NUP107):c.1506+251A>G	NUP107	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1269501	NM_020401.4(NUP107):c.1507-254A>C	NUP107	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1233182	NM_020401.4(NUP107):c.1576+42T>G	NUP107	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1193123	NM_020401.4(NUP107):c.1576+42_1576+43insG	NUP107	Insertion (intron variant)	not provided	GLikely benign
Select item 1219013	NM_020401.4(NUP107):c.1576+43T>G	NUP107	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1277767	NM_020401.4(NUP107):c.1576+49_1576+50insGTT	NUP107	Insertion (intron variant)	not provided	GBenign
Select item 1239208	NM_020401.4(NUP107):c.1576+49_1576+50insGT	NUP107	Insertion (intron variant)	not provided	GBenign
Select item 1213311	NM_020401.4(NUP107):c.1695+16C>T	NUP107	Single nucleotide variant (intron variant)	not provided	GBenign/Likely benign
Select item 1236150	NM_020401.4(NUP107):c.1695+244G>A	NUP107	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1185879	NM_020401.4(NUP107):c.1696-289C>T	NUP107	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1269408	NM_020401.4(NUP107):c.1734+177C>T	NUP107	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1269005	NM_020401.4(NUP107):c.1734+223A>C	NUP107	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3377832	NM_020401.4(NUP107):c.1817C>G (p.Ala606Gly)	NUP107 (A577G +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1203961	NM_020401.4(NUP107):c.1886-107T>G	NUP107	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1286822	NM_020401.4(NUP107):c.1998+14G>T	NUP107	Single nucleotide variant (intron variant)	Galloway-Mowat syndrome 7 +3 more	GBenign
Select item 1261514	NM_020401.4(NUP107):c.1998+15G>T	NUP107	Single nucleotide variant (intron variant)	Galloway-Mowat syndrome 7 +3 more	GBenign
Select item 1273634	NM_020401.4(NUP107):c.1998+79C>T	NUP107	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
Select item 1253027	NM_020401.4(NUP107):c.1998+178G>A	NUP107	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1236092	NM_020401.4(NUP107):c.1998+339A>G	NUP107	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1704953	NM_020401.4(NUP107):c.2101+1G>T	NUP107	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
Select item 1317450	NM_020401.4(NUP107):c.2101+39C>T	NUP107	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1266013	NM_020401.4(NUP107):c.2101+136G>T	NUP107	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1215506	NM_020401.4(NUP107):c.2115C>T (p.His705=)	NUP107	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 2579980	NM_020401.4(NUP107):c.2219A>G (p.Asp740Gly)	NUP107 (D711G +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1204831	NM_020401.4(NUP107):c.2262+105C>T	NUP107	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1237920	NM_020401.4(NUP107):c.2262+108C>T	NUP107	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1187580	NM_020401.4(NUP107):c.2262+152C>T	NUP107	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1279119	NM_020401.4(NUP107):c.2263-21T>C	NUP107	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1260243	NM_020401.4(NUP107):c.2388+71G>A	NUP107	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1265903	NM_020401.4(NUP107):c.2388+150G>A	NUP107	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1328605	NM_020401.4(NUP107):c.2389-41G>T	NUP107	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3343788	NM_020401.4(NUP107):c.2572T>G (p.Cys858Gly)	NUP107 (C829G +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1260722	NM_020401.4(NUP107):c.*10T>C	NUP107	Single nucleotide variant (3 prime UTR variant)	not provided	GLikely benign
Select item 1262427	NM_020401.4(NUP107):c.*245T>A	NUP107	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 93