NUP98[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 151263	GRCh38/hg38 11p15.5-15.4(chr11:61793-10727969)x3	DENND5A, DNHD1 +723 more	Copy number gain	See cases	GPathogenic
Select item 154823	GRCh38/hg38 11p15.5-15.4(chr11:196855-5321874)x3	A-GAMMA3'E, ANO9 +388 more	Copy number gain	See cases	GPathogenic
Select item 57258	GRCh38/hg38 11p15.5-15.4(chr11:196966-4435344)x3	LOC130005164, LOC130005165 +332 more	Copy number gain	See cases	GPathogenic
Select item 144515	GRCh38/hg38 11p15.5-15.1(chr11:446754-18904742)x3	TRIM22, TRIM3 +917 more	Copy number gain	See cases	GPathogenic
Select item 14445	NC_000011.10:g.(499700_4999400)_(5279346_5279697)del	ASCL2, BGLT3 +328 more	Deletion	Thalassemia, gamma-delta-beta	GPathogenic
Select item 2303124	NM_016320.5(NUP98):c.5389G>A (p.Val1797Ile)	NUP98 (V1723I +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3203311	NM_016320.5(NUP98):c.5378G>A (p.Arg1793Gln)	NUP98 (R1793Q +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2288826	NM_016320.5(NUP98):c.5353C>T (p.Arg1785Cys)	NUP98 (R1785C +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3301611	NM_016320.5(NUP98):c.5341A>G (p.Met1781Val)	NUP98 (M1773V +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3301612	NM_016320.5(NUP98):c.5315G>A (p.Arg1772Gln)	NUP98 (R1772Q +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3203310	NM_016320.5(NUP98):c.5279G>A (p.Arg1760Gln)	NUP98 (R1791Q +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 726791	NM_016320.5(NUP98):c.5229T>C (p.Ser1743=)	NUP98	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 2460497	NM_016320.5(NUP98):c.5215C>T (p.Arg1739Cys)	NUP98 (R1665C +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 375277	NM_016320.5(NUP98):c.5207A>G (p.Asn1736Ser)	NUP98 (N1662S +6 more)	Single nucleotide variant (missense variant +1 more)	Hirschsprung disease, susceptibility to, 1	GLikely pathogenic
Select item 732243	NM_016320.5(NUP98):c.5198G>A (p.Arg1733His)	NUP98 (R1716H +6 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 3203309	NM_016320.5(NUP98):c.5181G>C (p.Gln1727His)	NUP98 (Q1653H +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2369043	NM_016320.5(NUP98):c.5134C>T (p.Arg1712Trp)	NUP98 (R1638W +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3203307	NM_016320.5(NUP98):c.5107C>A (p.His1703Asn)	NUP98 (H1629N +7 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2371894	NM_016320.5(NUP98):c.5063A>G (p.His1688Arg)	NUP98 (H1671R +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2513735	NM_016320.5(NUP98):c.5045T>C (p.Val1682Ala)	NUP98 (V1682A +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2363428	NM_016320.5(NUP98):c.5041A>G (p.Arg1681Gly)	NUP98 (R1634G +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 992658	NM_016320.5(NUP98):c.5014T>C (p.Ser1672Pro)	NUP98 (S1598P +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GBenign
Select item 3203306	NM_016320.5(NUP98):c.4942G>A (p.Asp1648Asn)	NUP98 (D1601N +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 718546	NM_016320.5(NUP98):c.4904G>A (p.Arg1635Gln)	NUP98 (R1618Q +6 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 3301613	NM_016320.5(NUP98):c.4825A>G (p.Met1609Val)	NUP98 (M1535V +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3301609	NM_016320.5(NUP98):c.4712G>A (p.Arg1571Gln)	NUP98 (R1497Q +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 153706	GRCh38/hg38 11p15.4(chr11:3685244-4414881)x3	LINC02749, LOC106865369 +45 more	Copy number gain	See cases	GUncertain significance
Select item 2559631	NM_016320.5(NUP98):c.4651G>A (p.Val1551Ile)	NUP98 (V1543I +5 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3203304	NM_016320.5(NUP98):c.4469A>G (p.Asn1490Ser)	NUP98 (N1473S +5 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3203303	NM_016320.5(NUP98):c.4376G>A (p.Cys1459Tyr)	NUP98 (C1442Y +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 785886	NM_016320.5(NUP98):c.4283C>T (p.Ala1428Val)	NUP98 (A1445V +5 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 798039	NM_016320.5(NUP98):c.4236T>C (p.Ala1412=)	NUP98	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3203302	NM_016320.5(NUP98):c.4201G>A (p.Val1401Met)	NUP98 (V1418M +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3203301	NM_016320.5(NUP98):c.4139G>A (p.Arg1380His)	NUP98 (R1333H +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3203300	NM_016320.5(NUP98):c.4124A>C (p.Gln1375Pro)	NUP98 (Q1406P +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 749867	NM_016320.5(NUP98):c.4035A>G (p.Leu1345=)	NUP98	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2455403	NM_016320.5(NUP98):c.3892A>G (p.Thr1298Ala)	NUP98 (T1251A +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2235162	NM_016320.5(NUP98):c.3871C>T (p.Arg1291Cys)	NUP98 (R1244C +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3301610	NM_016320.5(NUP98):c.3810C>G (p.Asp1270Glu)	NUP98 (D1223E +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3203299	NM_016320.5(NUP98):c.3753C>G (p.His1251Gln)	NUP98 (H1234Q +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2490698	NM_016320.5(NUP98):c.3502G>A (p.Ala1168Thr)	NUP98 (A1121T +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3203298	NM_016320.5(NUP98):c.3497C>T (p.Pro1166Leu)	NUP98 (P1197L +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3203297	NM_016320.5(NUP98):c.3455A>C (p.His1152Pro)	NUP98 (H1105P +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2621662	NM_016320.5(NUP98):c.3453T>A (p.Asn1151Lys)	NUP98 (N1104K +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2394025	NM_016320.5(NUP98):c.3451A>G (p.Asn1151Asp)	NUP98 (N1104D +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2350362	NM_016320.5(NUP98):c.3409G>T (p.Ala1137Ser)	NUP98 (A1090S +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2527413	NM_016320.5(NUP98):c.3364A>G (p.Met1122Val)	NUP98 (M1075V +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2333308	NM_016320.5(NUP98):c.3344T>G (p.Leu1115Trp)	NUP98 (L1098W +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3203295	NM_016320.5(NUP98):c.3326A>G (p.Tyr1109Cys)	NUP98 (Y1062C +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3203294	NM_016320.5(NUP98):c.3248C>T (p.Pro1083Leu)	NUP98 (P1075L +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2606827	NM_016320.5(NUP98):c.3217C>T (p.Pro1073Ser)	NUP98 (P1056S +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3203293	NM_016320.5(NUP98):c.3200C>T (p.Ser1067Phe)	NUP98 (S1067F +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3203292	NM_016320.5(NUP98):c.3173C>T (p.Ser1058Phe)	NUP98 (S1011F +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3203290	NM_016320.5(NUP98):c.3155G>A (p.Arg1052His)	NUP98 (R1005H +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2251280	NM_016320.5(NUP98):c.3118G>A (p.Ala1040Thr)	NUP98 (A1071T +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2476023	NM_016320.5(NUP98):c.3073C>T (p.Arg1025Cys)	NUP98 (R1025C +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 710736	NM_016320.5(NUP98):c.3065C>T (p.Ser1022Leu)	NUP98 (S1022L +4 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 2382622	NM_016320.5(NUP98):c.3062C>T (p.Ser1021Leu)	NUP98 (S1013L +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2533477	NM_016320.5(NUP98):c.3031T>C (p.Ser1011Pro)	NUP98 (S994P +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3203289	NM_016320.5(NUP98):c.3020A>C (p.Gln1007Pro)	NUP98 (Q1007P +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2330737	NM_016320.5(NUP98):c.3019C>G (p.Gln1007Glu)	NUP98 (Q1007E +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2250317	NM_016320.5(NUP98):c.2983C>T (p.Arg995Cys)	NUP98 (R978C +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2466932	NM_016320.5(NUP98):c.2926A>G (p.Ile976Val)	NUP98 (I993V +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2243040	NM_016320.5(NUP98):c.2890G>T (p.Ala964Ser)	NUP98 (A947S +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3301620	NM_016320.5(NUP98):c.2888T>C (p.Ile963Thr)	NUP98 (I916T +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3203287	NM_016320.5(NUP98):c.2866C>G (p.Pro956Ala)	NUP98 (P948A +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2306209	NM_016320.5(NUP98):c.2761G>A (p.Glu921Lys)	NUP98 (E913K +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2337345	NM_016320.5(NUP98):c.2711C>T (p.Ala904Val)	NUP98 (A921V +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2600558	NM_016320.5(NUP98):c.2698C>T (p.Pro900Ser)	NUP98 (P853S +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2641516	NM_016320.5(NUP98):c.2640T>C (p.Ser880=)	NUP98	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 691483	NM_016320.5(NUP98):c.2637G>A (p.Pro879=)	NUP98	Single nucleotide variant (synonymous variant +1 more)	Aganglionic megacolon	GUncertain significance
Select item 2360625	NM_016320.5(NUP98):c.2636C>T (p.Pro879Leu)	NUP98 (P871L +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3301615	NM_016320.5(NUP98):c.2581T>G (p.Ser861Ala)	NUP98 (S844A +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2538829	NM_016320.5(NUP98):c.2552C>G (p.Pro851Arg)	NUP98 (P843R +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2618989	NM_016320.5(NUP98):c.2458A>G (p.Ile820Val)	NUP98 (I812V +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2460857	NM_016320.5(NUP98):c.2281G>A (p.Glu761Lys)	NUP98 (E714K +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3203286	NM_016320.5(NUP98):c.2230A>G (p.Ile744Val)	NUP98 (I727V +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2347494	NM_016320.5(NUP98):c.2213A>G (p.Asn738Ser)	NUP98 (N738S +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3301614	NM_016320.5(NUP98):c.2201C>T (p.Ala734Val)	NUP98 (A717V +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3203285	NM_016320.5(NUP98):c.2131C>A (p.His711Asn)	NUP98 (H664N +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2490588	NM_016320.5(NUP98):c.2126C>T (p.Ser709Phe)	NUP98 (S692F +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2339325	NM_016320.5(NUP98):c.2114T>C (p.Ile705Thr)	NUP98 (I705T +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2411593	NM_016320.5(NUP98):c.2093T>C (p.Leu698Pro)	NUP98 (L681P +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 773242	NM_016320.5(NUP98):c.2029C>T (p.Arg677Cys)	NUP98 (R669C +4 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 2533866	NM_016320.5(NUP98):c.2022A>C (p.Leu674Phe)	NUP98 (L627F +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3301616	NM_016320.5(NUP98):c.1988A>C (p.Asn663Thr)	NUP98 (N616T +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3301617	NM_016320.5(NUP98):c.1976A>G (p.Asn659Ser)	NUP98 (N642S +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2397414	NM_016320.5(NUP98):c.1936A>G (p.Ile646Val)	NUP98 (I599V +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2356923	NM_016320.5(NUP98):c.1928C>G (p.Thr643Ser)	NUP98 (T635S +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2559812	NM_016320.5(NUP98):c.1927A>G (p.Thr643Ala)	NUP98 (T626A +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3203284	NM_016320.5(NUP98):c.1899T>A (p.Asp633Glu)	NUP98 (D625E +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3203282	NM_016320.5(NUP98):c.1867C>G (p.Pro623Ala)	NUP98 (P606A +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2268758	NM_016320.5(NUP98):c.1679A>G (p.Asp560Gly)	NUP98 (D552G +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2275996	NM_016320.5(NUP98):c.1532A>C (p.Lys511Thr)	LOC106865369, NUP98 (K464T +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3301619	NM_016320.5(NUP98):c.1469G>A (p.Ser490Asn)	LOC106865369, NUP98 (S473N +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2262515	NM_016320.5(NUP98):c.1409C>G (p.Ala470Gly)	LOC106865369, NUP98 (A462G +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 770595	NM_016320.5(NUP98):c.1409-6del	LOC106865369, NUP98	Deletion (intron variant)	not provided	GBenign
Select item 2491563	NM_016320.5(NUP98):c.1393C>T (p.Pro465Ser)	LOC106865369, NUP98 (P457S +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 729175	NM_016320.5(NUP98):c.1368G>A (p.Thr456=)	LOC106865369, NUP98	Single nucleotide variant (synonymous variant +2 more)	not provided	GBenign
Select item 2294124	NM_016320.5(NUP98):c.1349C>T (p.Ala450Val)	LOC106865369, NUP98 (A433V +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance

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