"Ambry Genetics"[submitter] AND "NUP210"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2293093	NM_024923.4(NUP210):c.5624C>T (p.Pro1875Leu)	NUP210 (P1875L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2469306	NM_024923.4(NUP210):c.5591C>T (p.Pro1864Leu)	NUP210 (P1864L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2517914	NM_024923.4(NUP210):c.5576C>T (p.Ser1859Leu)	NUP210 (S1859L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3203107	NM_024923.4(NUP210):c.5543G>A (p.Ser1848Asn)	NUP210 (S1848N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2611118	NM_024923.4(NUP210):c.5519C>T (p.Pro1840Leu)	NUP210 (P1840L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2653569	NM_024923.4(NUP210):c.5504G>A (p.Arg1835Gln)	NUP210 (R1835Q)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2253034	NM_024923.4(NUP210):c.5465C>T (p.Ala1822Val)	NUP210 (A1822V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3203106	NM_024923.4(NUP210):c.5438C>T (p.Thr1813Met)	NUP210 (T1813M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2400532	NM_024923.4(NUP210):c.5365C>T (p.Arg1789Cys)	NUP210 (R1789C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2307165	NM_024923.4(NUP210):c.5206G>A (p.Glu1736Lys)	NUP210 (E1736K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2316754	NM_024923.4(NUP210):c.5200G>A (p.Ala1734Thr)	NUP210 (A1734T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2319216	NM_024923.4(NUP210):c.5144C>T (p.Pro1715Leu)	NUP210 (P1715L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2495600	NM_024923.4(NUP210):c.5015C>G (p.Ser1672Cys)	NUP210 (S1672C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2400793	NM_024923.4(NUP210):c.4964G>A (p.Arg1655Gln)	NUP210 (R1655Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2525044	NM_024923.4(NUP210):c.4933A>G (p.Ile1645Val)	NUP210 (I1645V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2298647	NM_024923.4(NUP210):c.4930T>G (p.Ser1644Ala)	NUP210 (S1644A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2475236	NM_024923.4(NUP210):c.4825A>G (p.Ile1609Val)	NUP210 (I1609V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3203105	NM_024923.4(NUP210):c.4793A>G (p.Glu1598Gly)	NUP210 (E1598G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2246900	NM_024923.4(NUP210):c.4684C>T (p.Leu1562Phe)	NUP210 (L1562F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2363942	NM_024923.4(NUP210):c.4624C>T (p.His1542Tyr)	NUP210 (H1542Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2239108	NM_024923.4(NUP210):c.4597G>A (p.Val1533Met)	NUP210 (V1533M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2228024	NM_024923.4(NUP210):c.4583G>A (p.Arg1528Gln)	NUP210 (R1528Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3203104	NM_024923.4(NUP210):c.4567G>A (p.Gly1523Ser)	NUP210 (G1523S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3203103	NM_024923.4(NUP210):c.4565C>T (p.Thr1522Met)	NUP210 (T1522M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2409367	NM_024923.4(NUP210):c.4555G>A (p.Asp1519Asn)	NUP210 (D1519N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2457993	NM_024923.4(NUP210):c.4538A>G (p.Asn1513Ser)	NUP210 (N1513S)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3203102	NM_024923.4(NUP210):c.4489G>C (p.Val1497Leu)	NUP210 (V1497L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2524110	NM_024923.4(NUP210):c.4409T>C (p.Met1470Thr)	NUP210 (M1470T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2366926	NM_024923.4(NUP210):c.4391C>T (p.Pro1464Leu)	NUP210 (P1464L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2346174	NM_024923.4(NUP210):c.4381G>A (p.Ala1461Thr)	NUP210 (A1461T)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3203101	NM_024923.4(NUP210):c.4340G>A (p.Arg1447His)	NUP210 (R1447H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3203100	NM_024923.4(NUP210):c.4291G>A (p.Asp1431Asn)	NUP210 (D1431N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2556878	NM_024923.4(NUP210):c.4228G>A (p.Asp1410Asn)	NUP210 (D1410N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2603314	NM_024923.4(NUP210):c.4224C>G (p.Phe1408Leu)	NUP210 (F1408L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3203099	NM_024923.4(NUP210):c.4183G>A (p.Ala1395Thr)	NUP210 (A1395T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2218095	NM_024923.4(NUP210):c.4166A>T (p.Asn1389Ile)	NUP210 (N1389I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3203098	NM_024923.4(NUP210):c.4126T>C (p.Tyr1376His)	NUP210 (Y1376H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2384454	NM_024923.4(NUP210):c.4121T>A (p.Val1374Asp)	NUP210 (V1374D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3203097	NM_024923.4(NUP210):c.4054G>C (p.Glu1352Gln)	NUP210 (E1352Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2468906	NM_024923.4(NUP210):c.4039G>A (p.Gly1347Arg)	NUP210 (G1347R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2257601	NM_024923.4(NUP210):c.4033A>G (p.Met1345Val)	NUP210 (M1345V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2354611	NM_024923.4(NUP210):c.3979G>A (p.Glu1327Lys)	NUP210 (E1327K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2325986	NM_024923.4(NUP210):c.3977C>T (p.Pro1326Leu)	NUP210 (P1326L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2543421	NM_024923.4(NUP210):c.3967C>G (p.Leu1323Val)	NUP210 (L1323V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2379538	NM_024923.4(NUP210):c.3964G>A (p.Val1322Ile)	NUP210 (V1322I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3203096	NM_024923.4(NUP210):c.3961C>T (p.Arg1321Cys)	NUP210 (R1321C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2341012	NM_024923.4(NUP210):c.3931A>G (p.Asn1311Asp)	LOC129936227, NUP210 (N1311D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2597134	NM_024923.4(NUP210):c.3913T>C (p.Tyr1305His)	LOC129936227, NUP210 (Y1305H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2374180	NM_024923.4(NUP210):c.3898A>G (p.Met1300Val)	LOC129936227, NUP210 (M1300V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3203095	NM_024923.4(NUP210):c.3824C>G (p.Ser1275Trp)	NUP210 (S1275W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2408318	NM_024923.4(NUP210):c.3775G>C (p.Ala1259Pro)	NUP210 (A1259P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2547472	NM_024923.4(NUP210):c.3746G>T (p.Gly1249Val)	NUP210 (G1249V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2551535	NM_024923.4(NUP210):c.3736C>T (p.Arg1246Trp)	NUP210 (R1246W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2257535	NM_024923.4(NUP210):c.3695G>A (p.Arg1232Gln)	NUP210 (R1232Q)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2364889	NM_024923.4(NUP210):c.3655G>A (p.Val1219Ile)	NUP210 (V1219I)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2284272	NM_024923.4(NUP210):c.3520G>A (p.Ala1174Thr)	NUP210 (A1174T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3203094	NM_024923.4(NUP210):c.3400G>A (p.Gly1134Arg)	NUP210 (G1134R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2595800	NM_024923.4(NUP210):c.3398T>C (p.Ile1133Thr)	NUP210 (I1133T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3203093	NM_024923.4(NUP210):c.3374C>T (p.Ala1125Val)	NUP210 (A1125V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3203092	NM_024923.4(NUP210):c.3370G>A (p.Ala1124Thr)	NUP210 (A1124T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2377724	NM_024923.4(NUP210):c.3359C>T (p.Ala1120Val)	NUP210 (A1120V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2547477	NM_024923.4(NUP210):c.3277G>A (p.Gly1093Arg)	NUP210 (G1093R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2411905	NM_024923.4(NUP210):c.3248T>G (p.Leu1083Arg)	NUP210 (L1083R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2301625	NM_024923.4(NUP210):c.3189A>C (p.Lys1063Asn)	NUP210 (K1063N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2568706	NM_024923.4(NUP210):c.3139C>T (p.Arg1047Cys)	NUP210 (R1047C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3203091	NM_024923.4(NUP210):c.3042C>G (p.Phe1014Leu)	NUP210 (F1014L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2598212	NM_024923.4(NUP210):c.2949C>G (p.Ile983Met)	NUP210 (I983M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2461106	NM_024923.4(NUP210):c.2917G>A (p.Val973Ile)	NUP210 (V973I)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2511027	NM_024923.4(NUP210):c.2906C>G (p.Ala969Gly)	NUP210 (A969G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2319259	NM_024923.4(NUP210):c.2866A>G (p.Ile956Val)	NUP210 (I956V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3203089	NM_024923.4(NUP210):c.2788G>A (p.Ala930Thr)	NUP210 (A930T)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2276625	NM_024923.4(NUP210):c.2651C>T (p.Ser884Leu)	NUP210 (S884L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2220301	NM_024923.4(NUP210):c.2635C>T (p.Pro879Ser)	NUP210 (P879S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2209132	NM_024923.4(NUP210):c.2627C>T (p.Pro876Leu)	NUP210 (P876L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2455920	NM_024923.4(NUP210):c.2606G>C (p.Ser869Thr)	NUP210 (S869T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2367506	NM_024923.4(NUP210):c.2585G>A (p.Gly862Asp)	NUP210 (G862D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2341362	NM_024923.4(NUP210):c.2503G>A (p.Gly835Ser)	NUP210 (G835S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2387886	NM_024923.4(NUP210):c.2494G>A (p.Asp832Asn)	NUP210 (D832N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3203088	NM_024923.4(NUP210):c.2490G>C (p.Gln830His)	NUP210 (Q830H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2276020	NM_024923.4(NUP210):c.2458G>A (p.Glu820Lys)	NUP210 (E820K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2352056	NM_024923.4(NUP210):c.2450C>T (p.Ala817Val)	NUP210 (A817V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2386382	NM_024923.4(NUP210):c.2402A>G (p.Asn801Ser)	NUP210 (N801S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2294476	NM_024923.4(NUP210):c.2390G>A (p.Arg797His)	NUP210 (R797H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2383916	NM_024923.4(NUP210):c.2347C>T (p.Arg783Cys)	NUP210 (R783C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2457018	NM_024923.4(NUP210):c.2344C>T (p.His782Tyr)	NUP210 (H782Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2548795	NM_024923.4(NUP210):c.2301T>G (p.Cys767Trp)	NUP210 (C767W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2284545	NM_024923.4(NUP210):c.2232C>G (p.Phe744Leu)	NUP210 (F744L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2321008	NM_024923.4(NUP210):c.2221G>T (p.Val741Leu)	NUP210 (V741L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2404168	NM_024923.4(NUP210):c.2218G>A (p.Ala740Thr)	NUP210 (A740T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2312504	NM_024923.4(NUP210):c.2207C>T (p.Ala736Val)	NUP210 (A736V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3203087	NM_024923.4(NUP210):c.2192C>T (p.Thr731Ile)	NUP210 (T731I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3203086	NM_024923.4(NUP210):c.2102G>A (p.Arg701Gln)	NUP210 (R701Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2242723	NM_024923.4(NUP210):c.2080C>G (p.Leu694Val)	NUP210 (L694V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3203085	NM_024923.4(NUP210):c.2071G>A (p.Gly691Ser)	NUP210 (G691S)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2258845	NM_024923.4(NUP210):c.2000G>C (p.Gly667Ala)	NUP210 (G667A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2278622	NM_024923.4(NUP210):c.1942C>T (p.Pro648Ser)	NUP210 (P648S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3203084	NM_024923.4(NUP210):c.1909A>G (p.Ile637Val)	NUP210 (I637V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2402044	NM_024923.4(NUP210):c.1886T>G (p.Val629Gly)	NUP210 (V629G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2517372	NM_024923.4(NUP210):c.1879G>A (p.Gly627Ser)	NUP210 (G627S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2350631	NM_024923.4(NUP210):c.1862T>C (p.Leu621Pro)	NUP210 (L621P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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