NUP210L[gene] - ClinVar

Search results

Items: 87

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155448	GRCh38/hg38 1q21.2-25.2(chr1:149854269-180267197)x3	LOC129931453, LOC129931454 +1585 more	Copy number gain	See cases	GPathogenic
Select item 60011	GRCh38/hg38 1q21.3(chr1:153759563-154219803)x1	C1orf43, CFAP141 +35 more	Copy number loss	See cases	GPathogenic
Select item 560045	Single allele	CREB3L4, CRTC2 +26 more	Deletion	Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome	GLikely pathogenic
Select item 2527298	NM_207308.3(NUP210L):c.5632C>T (p.Arg1878Trp)	NUP210L (R1878W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2473045	NM_207308.3(NUP210L):c.5631T>A (p.Ser1877Arg)	NUP210L (S1877R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2280516	NM_207308.3(NUP210L):c.5567G>A (p.Gly1856Asp)	NUP210L (G1856D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2540645	NM_207308.3(NUP210L):c.5416C>T (p.Arg1806Trp)	NUP210L (R1654W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2286299	NM_207308.3(NUP210L):c.5335A>C (p.Ser1779Arg)	NUP210L (S1779R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2207100	NM_207308.3(NUP210L):c.5315A>G (p.Asn1772Ser)	NUP210L (N1772S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2322598	NM_207308.3(NUP210L):c.5296G>T (p.Ala1766Ser)	NUP210L (A1766S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2367044	NM_207308.3(NUP210L):c.5273A>G (p.Asn1758Ser)	NUP210L (N1758S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3203131	NM_207308.3(NUP210L):c.5225A>G (p.His1742Arg)	NUP210L (H1742R)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2205460	NM_207308.3(NUP210L):c.5224C>A (p.His1742Asn)	NUP210L (H1742N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2303853	NM_207308.3(NUP210L):c.5206G>A (p.Val1736Met)	NUP210L (V1736M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2247624	NM_207308.3(NUP210L):c.5084C>T (p.Ala1695Val)	NUP210L (A1695V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2495006	NM_207308.3(NUP210L):c.4958G>T (p.Arg1653Leu)	NUP210L (R1653L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3203130	NM_207308.3(NUP210L):c.4919G>C (p.Ser1640Thr)	NUP210L (S1640T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2347321	NM_207308.3(NUP210L):c.4842G>A (p.Met1614Ile)	NUP210L (M1614I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3203129	NM_207308.3(NUP210L):c.4610T>C (p.Met1537Thr)	NUP210L (M1537T)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2212844	NM_207308.3(NUP210L):c.4574C>G (p.Thr1525Ser)	NUP210L (T1525S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2216991	NM_207308.3(NUP210L):c.4370T>C (p.Leu1457Pro)	NUP210L (L1457P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2639366	NM_207308.3(NUP210L):c.4239T>C (p.Tyr1413=)	NUP210L	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2315976	NM_207308.3(NUP210L):c.4219A>G (p.Thr1407Ala)	NUP210L (T1407A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2403410	NM_207308.3(NUP210L):c.4187C>A (p.Thr1396Asn)	NUP210L (T1396N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2411746	NM_207308.3(NUP210L):c.4034A>C (p.Lys1345Thr)	NUP210L (K1345T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2351830	NM_207308.3(NUP210L):c.3964G>A (p.Val1322Met)	NUP210L (V1322M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2206180	NM_207308.3(NUP210L):c.3880T>A (p.Tyr1294Asn)	NUP210L (Y1294N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2275907	NM_207308.3(NUP210L):c.3797G>C (p.Ser1266Thr)	NUP210L (S1266T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2355314	NM_207308.3(NUP210L):c.3790A>G (p.Met1264Val)	NUP210L (M1264V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3203126	NM_207308.3(NUP210L):c.3778A>G (p.Thr1260Ala)	NUP210L (T1260A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2477826	NM_207308.3(NUP210L):c.3662G>A (p.Arg1221Lys)	NUP210L (R1221K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2312626	NM_207308.3(NUP210L):c.3658A>C (p.Lys1220Gln)	NUP210L (K1220Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3203125	NM_207308.3(NUP210L):c.3505G>T (p.Val1169Phe)	NUP210L (V1169F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2323096	NM_207308.3(NUP210L):c.3443C>T (p.Thr1148Ile)	NUP210L (T1148I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3203124	NM_207308.3(NUP210L):c.3305T>A (p.Val1102Glu)	NUP210L (V1102E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2287673	NM_207308.3(NUP210L):c.3182T>A (p.Val1061Glu)	NUP210L (V1061E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3203122	NM_207308.3(NUP210L):c.3052T>C (p.Tyr1018His)	NUP210L (Y1018H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2390201	NM_207308.3(NUP210L):c.3034C>T (p.Arg1012Cys)	NUP210L (R1012C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2508292	NM_207308.3(NUP210L):c.2879C>T (p.Thr960Ile)	NUP210L (T960I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2288996	NM_207308.3(NUP210L):c.2810T>C (p.Val937Ala)	NUP210L (V937A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2292340	NM_207308.3(NUP210L):c.2803C>A (p.Gln935Lys)	NUP210L (Q935K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3203120	NM_207308.3(NUP210L):c.2737C>T (p.Pro913Ser)	NUP210L (P913S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3203119	NM_207308.3(NUP210L):c.2695G>A (p.Asp899Asn)	NUP210L (D899N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3203118	NM_207308.3(NUP210L):c.2615T>C (p.Val872Ala)	NUP210L (V872A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3203117	NM_207308.3(NUP210L):c.2347C>T (p.His783Tyr)	NUP210L (H783Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3203116	NM_207308.3(NUP210L):c.2321G>T (p.Gly774Val)	NUP210L (G774V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2612562	NM_207308.3(NUP210L):c.2257G>C (p.Val753Leu)	NUP210L (V753L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2509599	NM_207308.3(NUP210L):c.2159G>A (p.Arg720Gln)	NUP210L (R720Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2215961	NM_207308.3(NUP210L):c.2105G>A (p.Gly702Glu)	NUP210L (G702E)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2511288	NM_207308.3(NUP210L):c.2063G>A (p.Arg688Gln)	NUP210L (R688Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3203115	NM_207308.3(NUP210L):c.2019G>A (p.Met673Ile)	NUP210L (M673I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2298998	NM_207308.3(NUP210L):c.1954G>C (p.Glu652Gln)	NUP210L (E652Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2385876	NM_207308.3(NUP210L):c.1784T>C (p.Met595Thr)	NUP210L (M595T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3203114	NM_207308.3(NUP210L):c.1725A>C (p.Lys575Asn)	NUP210L (K575N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2493328	NM_207308.3(NUP210L):c.1546G>T (p.Ala516Ser)	NUP210L (A516S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2241707	NM_207308.3(NUP210L):c.1468G>A (p.Glu490Lys)	NUP210L (E490K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2316533	NM_207308.3(NUP210L):c.1417G>T (p.Ala473Ser)	NUP210L (A473S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3203112	NM_207308.3(NUP210L):c.1367A>G (p.Gln456Arg)	NUP210L (Q456R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2623093	NM_207308.3(NUP210L):c.1358T>A (p.Ile453Asn)	NUP210L (I453N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2291442	NM_207308.3(NUP210L):c.1310C>G (p.Thr437Ser)	NUP210L (T437S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3203135	NM_207308.3(NUP210L):c.958A>G (p.Met320Val)	NUP210L (M320V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2565585	NM_207308.3(NUP210L):c.913G>A (p.Gly305Arg)	NUP210L (G305R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3203133	NM_207308.3(NUP210L):c.740G>A (p.Arg247His)	NUP210L (R247H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2523288	NM_207308.3(NUP210L):c.695G>A (p.Arg232Gln)	NUP210L (R232Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3203132	NM_207308.3(NUP210L):c.619A>C (p.Met207Leu)	NUP210L (M207L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3203128	NM_207308.3(NUP210L):c.449T>C (p.Met150Thr)	NUP210L (M150T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2356451	NM_207308.3(NUP210L):c.425T>C (p.Val142Ala)	NUP210L (V142A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2273767	NM_207308.3(NUP210L):c.413G>A (p.Arg138Gln)	NUP210L (R138Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2290737	NM_207308.3(NUP210L):c.407G>A (p.Arg136Gln)	NUP210L (R136Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3203123	NM_207308.3(NUP210L):c.321T>G (p.Ile107Met)	NUP210L (I107M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2454567	NM_207308.3(NUP210L):c.253G>T (p.Gly85Cys)	NUP210L (G85C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3203134	NM_207308.3(NUP210L):c.88G>A (p.Val30Ile)	NUP210L (V30I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3247808	NC_000001.10:g.(?_153782653)_(154580482_?)dup	DENND4B, C1orf43 +20 more	Duplication	Aicardi-Goutieres syndrome 6 +1 more	GUncertain significance
Select item 3063532	GRCh37/hg19 1q21.1-23.1(chr1:146577511-157155587)x3	ACP6, ADAM15 +263 more	Copy number gain	not specified	GPathogenic
Select item 3062988	GRCh37/hg19 1q21.1-23.1(chr1:144368497-158992086)x3	ACP6, ADAM15 +315 more	Copy number gain	not specified	GPathogenic
Select item 3062900	GRCh37/hg19 1q21.3(chr1:154089394-154912611)x3	ADAR, AQP10 +14 more	Copy number gain	not specified	GUncertain significance
Select item 2580317	GRCh37/hg19 1q12-23.1(chr1:142535935-157648813)x3	ACP6, ADAM15 +293 more	Copy number gain	Chromosome 1q21.1 duplication syndrome	GPathogenic
Select item 2425513	NC_000001.10:g.(?_153963273)_(154580482_?)del	ADAR, AQP10 +13 more	Deletion	Kostmann syndrome	GPathogenic
Select item 1445481	NC_000001.10:g.(?_149895434)_(156851434_?)dup	CDC42SE1, CELF3 +228 more	Duplication	Kostmann syndrome +3 more	GUncertain significance
Select item 1003645	NC_000001.10:g.(?_130980840)_(248900000_?)dup	ATP8B2, AVPR1B +956 more	Duplication	Parathyroid carcinoma +2 more	GUncertain significance
Select item 979296	GRCh37/hg19 1q21.3(chr1:153866956-154000766)x1	JTB, CREB3L4 +7 more	Copy number loss	not provided	GUncertain significance
Select item 814130	GRCh37/hg19 1q21.3(chr1:153659094-154307972)x3	JTB, RPS27 +17 more	Copy number gain	not provided	GUncertain significance
Select item 625770	GRCh37/hg19 1q21.3(chr1:153701504-154218584)	JTB, NUP210L +13 more	Copy number loss	Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome	GPathogenic
Select item 565180	GRCh37/hg19 1q21.3(chr1:150853044-154647786)x3	LCE2A, S100A2 +125 more	Copy number gain	not provided	GPathogenic
Select item 493594	GRCh37/hg19 1q21.3-23.1(chr1:153751465-156660462)x3	ADAR, PYGO2 +91 more	Copy number gain	not provided	GLikely pathogenic
Select item 442387	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)	BCAS2, CNTN2 +2014 more	Copy number gain	See cases	GPathogenic
Select item 442386	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3	FAM76A, FAM78B +2014 more	Copy number gain	See cases	GPathogenic

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Items: 87