"GeneDx"[submitter] AND "NUP205"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 152912	GRCh38/hg38 7q31.2-36.3(chr7:115459015-159325817)x3	AASS, ABCB8 +1547 more	Copy number gain	See cases	GPathogenic
Select item 145837	GRCh38/hg38 7q33(chr7:135360779-135634426)x3	LOC129999425, CNOT4 +5 more	Copy number gain	See cases	GLikely benign
Select item 60297	GRCh38/hg38 7q33-35(chr7:135414108-144140219)x1	ADCK2, AGK +373 more	Copy number loss	See cases	GPathogenic
Select item 1317089	NC_000007.14:g.135557662CAT[1]	NUP205	Microsatellite	not provided	GLikely benign
Select item 1241342	NC_000007.14:g.135557703A>G	NUP205	Single nucleotide variant	not provided	GBenign
Select item 1266093	NM_015135.3(NUP205):c.-5C>T	NUP205	Single nucleotide variant (5 prime UTR variant)	not provided	GBenign
Select item 1316447	NM_015135.3(NUP205):c.28+27T>C	NUP205	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1258543	NM_015135.3(NUP205):c.28+190C>T	NUP205	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1289264	NM_015135.3(NUP205):c.28+253T>G	NUP205	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1316936	NM_015135.3(NUP205):c.28+292A>G	NUP205	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1245121	NM_015135.3(NUP205):c.29-266T>A	NUP205	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1317815	NM_015135.3(NUP205):c.29-247ATATAA[3]	NUP205	Microsatellite (intron variant)	not provided	GLikely benign
Select item 1245148	NM_015135.3(NUP205):c.29-228_29-200dup	NUP205	Duplication (intron variant)	not provided	GBenign
Select item 1226308	NM_015135.3(NUP205):c.29-153_29-152insGTTA	NUP205	Insertion (intron variant)	not provided	GBenign
Select item 1262162	NM_015135.3(NUP205):c.29-27G>A	NUP205	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1280600	NM_015135.3(NUP205):c.171+45del	NUP205	Deletion (intron variant)	not provided	GBenign
Select item 1241367	NM_015135.3(NUP205):c.171+51C>T	NUP205	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1316796	NM_015135.3(NUP205):c.171+59G>C	NUP205	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1317650	NM_015135.3(NUP205):c.171+121C>A	NUP205	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1318039	NM_015135.3(NUP205):c.171+179dup	NUP205	Duplication (intron variant)	not provided	GLikely benign
Select item 1252099	NM_015135.3(NUP205):c.171+179del	NUP205	Deletion (intron variant)	not provided	GBenign
Select item 1181088	NM_015135.3(NUP205):c.171+227C>T	NUP205	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1316376	NM_015135.3(NUP205):c.172-141G>C	NUP205	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1282087	NM_015135.3(NUP205):c.343+105C>A	NUP205	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1265390	NM_015135.3(NUP205):c.343+197G>T	NUP205	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1286524	NM_015135.3(NUP205):c.343+282A>G	NUP205	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1316507	NM_015135.3(NUP205):c.344-9C>G	NUP205	Single nucleotide variant (intron variant)	not provided	GBenign/Likely benign
Select item 1181707	NM_015135.3(NUP205):c.488+168T>C	NUP205	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1276504	NM_015135.3(NUP205):c.489-28G>A	NUP205	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1230047	NM_015135.3(NUP205):c.649-215T>C	NUP205	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1264849	NM_015135.3(NUP205):c.649-11T>C	NUP205	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 770377	NM_015135.3(NUP205):c.786C>T (p.Gly262=)	NUP205	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign/Likely benign
Select item 773397	NM_015135.3(NUP205):c.789A>G (p.Ser263=)	NUP205	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign/Likely benign
Select item 1231091	NM_015135.3(NUP205):c.1042+72A>G	NUP205	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1272976	NM_015135.3(NUP205):c.1042+269C>T	NUP205	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1264763	NM_015135.3(NUP205):c.1042+296dup	NUP205	Duplication (intron variant)	not provided	GBenign
Select item 1252669	NM_015135.3(NUP205):c.1042+295_1042+296dup	NUP205	Duplication (intron variant)	not provided	GBenign
Select item 1222005	NM_015135.3(NUP205):c.1042+285_1042+286insCTT	NUP205	Insertion (intron variant)	not provided	GBenign
Select item 1178538	NM_015135.3(NUP205):c.1118T>C (p.Met373Thr)	NUP205 (M15T +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1236909	NM_015135.3(NUP205):c.1119G>A (p.Met373Ile)	NUP205 (M15I +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1247618	NM_015135.3(NUP205):c.1218+82T>C	NUP205	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1290229	NM_015135.3(NUP205):c.1219-53T>C	NUP205	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1317579	NM_015135.3(NUP205):c.1219-16C>G	NUP205	Single nucleotide variant (intron variant)	not provided	GBenign/Likely benign
Select item 1317257	NM_015135.3(NUP205):c.1335+30C>G	NUP205	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1251891	NM_015135.3(NUP205):c.1473+200G>A	NUP205	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1259710	NM_015135.3(NUP205):c.1473+322T>C	NUP205	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1231865	NM_015135.3(NUP205):c.1474-325del	NUP205	Deletion (intron variant)	not provided	GBenign
Select item 1317853	NM_015135.3(NUP205):c.1474-223T>A	NUP205	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1221361	NM_015135.3(NUP205):c.1474-195_1474-193dup	NUP205	Duplication (intron variant)	not provided	GBenign
Select item 1224115	NM_015135.3(NUP205):c.1624+137G>A	NUP205	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1316361	NM_015135.3(NUP205):c.1625-277A>G	NUP205	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1276975	NM_015135.3(NUP205):c.1625-109C>G	NUP205	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1247290	NM_015135.3(NUP205):c.1625-88T>C	NUP205	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1317284	NM_015135.3(NUP205):c.1625-71A>G	NUP205	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 787870	NM_015135.3(NUP205):c.1818C>T (p.Thr606=)	NUP205	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 1224632	NM_015135.3(NUP205):c.1851A>C (p.Ala617=)	NUP205	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 1318099	NM_015135.3(NUP205):c.2013+106A>G	NUP205	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1271237	NM_015135.3(NUP205):c.2014-207C>T	NUP205	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1232716	NM_015135.3(NUP205):c.2064+219A>G	NUP205	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1277204	NM_015135.3(NUP205):c.2065-48A>G	NUP205	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1318282	NM_015135.3(NUP205):c.2275-205del	NUP205	Deletion (intron variant)	not provided	GLikely benign
Select item 1317258	NM_015135.3(NUP205):c.2275-134T>C	NUP205	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1318091	NM_015135.3(NUP205):c.2275-39C>A	NUP205	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1248700	NM_015135.3(NUP205):c.2374+71T>C	NUP205	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1179435	NM_015135.3(NUP205):c.2427G>A (p.Leu809=)	NUP205	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1174412	NM_015135.3(NUP205):c.2512+226C>G	NUP205	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1317804	NM_015135.3(NUP205):c.2702+100del	NUP205	Deletion (intron variant)	not provided	GLikely benign
Select item 1286111	NM_015135.3(NUP205):c.2823+220T>C	NUP205	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1246477	NM_015135.3(NUP205):c.2824-276del	NUP205	Deletion (intron variant)	not provided	GBenign
Select item 1258091	NM_015135.3(NUP205):c.2905+27C>T	NUP205	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1251311	NM_015135.3(NUP205):c.2905+182A>G	NUP205	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1317555	NM_015135.3(NUP205):c.2906-49G>A	NUP205	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1316511	NM_015135.3(NUP205):c.3156G>A (p.Ala1052=)	NUP205	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 1282260	NM_015135.3(NUP205):c.3174G>A (p.Gln1058=)	NUP205	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1239189	NM_015135.3(NUP205):c.3195+160A>G	NUP205	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1317259	NM_015135.3(NUP205):c.3196-262A>G	NUP205	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1317246	NM_015135.3(NUP205):c.3196-101C>T	NUP205	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1259302	NM_015135.3(NUP205):c.3196-49G>A	NUP205	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1277863	NM_015135.3(NUP205):c.3310+307G>A	NUP205	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1316510	NM_015135.3(NUP205):c.3311-293C>T	NUP205	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1316768	NM_015135.3(NUP205):c.3311-208C>T	NUP205	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1316667	NM_015135.3(NUP205):c.3311-69C>G	NUP205	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 713473	NM_015135.3(NUP205):c.3430C>G (p.Leu1144Val)	NUP205 (L786V +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign/Likely benign
Select item 1183082	NM_015135.3(NUP205):c.3460+5G>C	NUP205	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1239975	NM_015135.3(NUP205):c.3460+89T>C	NUP205	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1222023	NM_015135.3(NUP205):c.3460+202A>G	NUP205	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1251454	NM_015135.3(NUP205):c.3460+248T>C	NUP205	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1283334	NM_015135.3(NUP205):c.3532+60dup	NUP205	Duplication (intron variant)	not provided	GBenign
Select item 1227695	NM_015135.3(NUP205):c.3532+60del	NUP205	Deletion (intron variant)	not provided	GBenign
Select item 1316938	NM_015135.3(NUP205):c.3691-170A>G	NUP205	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1316388	NM_015135.3(NUP205):c.3691-135A>G	NUP205	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1266563	NM_015135.3(NUP205):c.3771+245T>G	LOC123956231, NUP205	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1317499	NM_015135.3(NUP205):c.3772-183C>T	NUP205	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1316509	NM_015135.3(NUP205):c.4008C>T (p.Ala1336=)	NUP205	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 1316668	NM_015135.3(NUP205):c.4231+21C>G	NUP205	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1316544	NM_015135.3(NUP205):c.4232-11A>C	NUP205	Single nucleotide variant (intron variant)	not provided	GBenign/Likely benign
Select item 1174225	NM_015135.3(NUP205):c.4330+194C>T	NUP205	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1222919	NM_015135.3(NUP205):c.4331-232A>G	NUP205	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1276839	NM_015135.3(NUP205):c.4671+23T>C	NUP205	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1317261	NM_015135.3(NUP205):c.4671+55T>C	NUP205	Single nucleotide variant (intron variant)	not provided	GLikely benign

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