ClinVar for Gene (Select 4927) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3301595	NM_002532.6(NUP88):c.713C>A (p.Ala238Glu)	NUP88 (A238E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3301594	NM_002532.6(NUP88):c.99C>G (p.Asn33Lys)	NUP88 (N33K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3301593	NM_002532.6(NUP88):c.1589A>G (p.Glu530Gly)	NUP88 (E530G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3243205	NC_000017.10:g.(?_422368)_(8285628_?)dup	FBXO39, FGF11 +209 more	Duplication	not provided	GUncertain significance
Select item 3243138	NC_000017.10:g.(?_5289526)_(5342393_?)del	C1QBP, NUP88 +1 more	Deletion	not provided	GPathogenic
Select item 3203264	NM_002532.6(NUP88):c.755C>T (p.Thr252Ile)	NUP88 (T252I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3203263	NM_002532.6(NUP88):c.674A>G (p.Asn225Ser)	NUP88 (N225S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3203262	NM_002532.6(NUP88):c.614C>T (p.Pro205Leu)	NUP88 (P205L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3203261	NM_002532.6(NUP88):c.541A>T (p.Ser181Cys)	LOC126862474, NUP88 (S181C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3203260	NM_002532.6(NUP88):c.316C>G (p.Pro106Ala)	NUP88 (P106A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3203259	NM_002532.6(NUP88):c.247C>T (p.Leu83Phe)	NUP88 (L83F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3203258	NM_002532.6(NUP88):c.20C>T (p.Pro7Leu)	NUP88 (P7L)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3203257	NM_002532.6(NUP88):c.2072A>C (p.Gln691Pro)	NUP88 (Q691P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3203256	NM_002532.6(NUP88):c.2040A>C (p.Lys680Asn)	NUP88 (K680N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3203255	NM_002532.6(NUP88):c.1944C>G (p.His648Gln)	NUP88 (H648Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3203254	NM_002532.6(NUP88):c.193G>T (p.Gly65Cys)	NUP88 (G65C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3203253	NM_002532.6(NUP88):c.1862G>C (p.Arg621Pro)	NUP88 (R637P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3203251	NM_002532.6(NUP88):c.1738C>G (p.Gln580Glu)	NUP88 (Q580E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3203250	NM_002532.6(NUP88):c.1691T>G (p.Leu564Arg)	NUP88 (L564R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3203249	NM_002532.6(NUP88):c.1669C>T (p.Pro557Ser)	NUP88 (P557S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3203248	NM_002532.6(NUP88):c.1502C>T (p.Ala501Val)	NUP88 (A501V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3203247	NM_002532.6(NUP88):c.1418C>T (p.Pro473Leu)	NUP88 (P473L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3203246	NM_002532.6(NUP88):c.1264C>T (p.His422Tyr)	NUP88 (H422Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3203245	NM_002532.6(NUP88):c.1160C>G (p.Ser387Cys)	NUP88 (S387C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3203244	NM_002532.6(NUP88):c.1145A>G (p.Asp382Gly)	NUP88 (D382G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3203243	NM_002532.6(NUP88):c.1096T>G (p.Phe366Val)	NUP88 (F366V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3063503	GRCh37/hg19 17p13.2(chr17:5308495-5619495)x3	C1QBP, DERL2 +5 more	Copy number gain	not specified	GUncertain significance
Select item 3063486	GRCh37/hg19 17p13.3-11.2(chr17:525-21510992)x3	ABR, ACADVL +329 more	Copy number gain	not specified	GPathogenic
Select item 3063485	GRCh37/hg19 17p13.3-13.2(chr17:9474-6017500)x1	ABR, ALOX15 +116 more	Copy number loss	not specified	GPathogenic
Select item 3055961	NM_002532.6(NUP88):c.1503G>A (p.Ala501=)	NUP88	Single nucleotide variant (synonymous variant)	NUP88-related disorder	GBenign
Select item 3055069	NM_002532.6(NUP88):c.1490C>T (p.Thr497Ile)	NUP88 (T497I)	Single nucleotide variant (missense variant)	NUP88-related disorder	GLikely benign
Select item 3054856	NM_002532.6(NUP88):c.1574C>T (p.Thr525Ile)	NUP88 (T525I)	Single nucleotide variant (missense variant)	NUP88-related disorder	GLikely benign
Select item 3050296	NM_002532.6(NUP88):c.857+7T>A	NUP88	Single nucleotide variant (intron variant)	NUP88-related disorder	GLikely benign
Select item 3049070	NM_002532.6(NUP88):c.1305G>A (p.Lys435=)	NUP88	Single nucleotide variant (synonymous variant)	NUP88-related disorder	GLikely benign
Select item 3046057	NM_002532.6(NUP88):c.1382+8C>G	NUP88	Single nucleotide variant (intron variant)	NUP88-related disorder	GLikely benign
Select item 3044917	NM_002532.6(NUP88):c.1045-5dup	NUP88	Duplication (intron variant)	NUP88-related disorder	GLikely benign
Select item 3043635	NM_002532.6(NUP88):c.1644-36G>A	NUP88	Single nucleotide variant (synonymous variant +1 more)	NUP88-related disorder	GLikely benign
Select item 3041989	NM_002532.6(NUP88):c.1010T>C (p.Val337Ala)	NUP88 (V337A)	Single nucleotide variant (missense variant)	NUP88-related disorder	GBenign
Select item 3041907	NM_002532.6(NUP88):c.1742A>G (p.Asp581Gly)	NUP88 (D581G +1 more)	Single nucleotide variant (missense variant)	NUP88-related disorder	GLikely benign
Select item 3041777	NM_002532.6(NUP88):c.1044+8C>A	NUP88	Single nucleotide variant (intron variant)	NUP88-related disorder	GBenign
Select item 3037544	NM_002532.6(NUP88):c.1836-10A>G	NUP88	Single nucleotide variant (intron variant)	NUP88-related disorder	GLikely benign
Select item 3035708	NM_002532.6(NUP88):c.179T>C (p.Val60Ala)	NUP88 (V60A)	Single nucleotide variant (missense variant)	NUP88-related disorder	GLikely benign
Select item 2647298	NM_002532.6(NUP88):c.1617T>C (p.Arg539=)	NUP88	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2647297	NM_002532.6(NUP88):c.1933C>T (p.His645Tyr)	NUP88 (H645Y +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2647296	NM_002532.6(NUP88):c.2010T>A (p.Asp670Glu)	NUP88 (D670E +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2647295	NM_002532.6(NUP88):c.2198A>G (p.Asn733Ser)	NUP88, RABEP1 (N733S +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 2622131	NM_002532.6(NUP88):c.854A>C (p.His285Pro)	NUP88 (H285P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2621822	NM_002532.6(NUP88):c.694G>A (p.Ala232Thr)	NUP88 (A232T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2611883	NM_002532.6(NUP88):c.431C>G (p.Ser144Cys)	NUP88 (S144C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2579287	GRCh38/hg38 17p13.3-12(chr17:165730-11404096)x3	SAT2, SCARF1 +911 more	Copy number gain	Chromosome 17p13.3 duplication syndrome	GPathogenic
Select item 2565013	NM_002532.6(NUP88):c.562G>A (p.Val188Ile)	LOC126862474, NUP88 (V188I)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2548460	NM_002532.6(NUP88):c.2219A>T (p.Asn740Ile)	NUP88, RABEP1 (N740I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2528739	NM_002532.6(NUP88):c.239T>C (p.Val80Ala)	NUP88 (V80A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2525187	NM_002532.6(NUP88):c.1849G>A (p.Glu617Lys)	NUP88 (E617K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2476721	NM_002532.6(NUP88):c.686C>T (p.Ala229Val)	NUP88 (A229V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2474497	NM_002532.6(NUP88):c.1172G>C (p.Cys391Ser)	NUP88 (C391S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2442042	NM_002532.6(NUP88):c.1117C>T (p.Leu373Phe)	NUP88 (L373F)	Single nucleotide variant (missense variant)	Fetal akinesia deformation sequence 4 +1 more	GUncertain significance
Select item 2434474	NM_002532.6(NUP88):c.16G>A (p.Gly6Arg)	NUP88 (G6R)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 2434473	NM_002532.6(NUP88):c.585C>T (p.Asn195=)	LOC126862474, NUP88	Single nucleotide variant (synonymous variant)	not provided +1 more	GUncertain significance
Select item 2427557	NC_000017.10:g.(?_5289526)_(6616652_?)dup	AIPL1, C17orf100 +14 more	Duplication	Developmental and epileptic encephalopathy, 25	GUncertain significance
Select item 2404206	NM_002532.6(NUP88):c.1616G>A (p.Arg539His)	NUP88 (R539H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2398498	NM_002532.6(NUP88):c.958G>A (p.Val320Ile)	NUP88 (V320I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2387051	NM_002532.6(NUP88):c.127G>A (p.Ala43Thr)	NUP88 (A43T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2355389	NM_002532.6(NUP88):c.1558C>T (p.Arg520Cys)	NUP88 (R520C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2355221	NM_002532.6(NUP88):c.1672C>G (p.Pro558Ala)	NUP88 (P574A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2350781	NM_002532.6(NUP88):c.983C>T (p.Thr328Ile)	NUP88 (T328I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2343761	NM_002532.6(NUP88):c.101A>G (p.Gln34Arg)	NUP88 (Q34R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2327859	NM_002532.6(NUP88):c.1976G>A (p.Arg659Gln)	NUP88 (R659Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2309364	NM_002532.6(NUP88):c.505A>G (p.Thr169Ala)	LOC126862474, NUP88 (T169A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2296789	NM_002532.6(NUP88):c.125C>T (p.Pro42Leu)	NUP88 (P42L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2285756	NM_002532.6(NUP88):c.1615C>T (p.Arg539Cys)	NUP88 (R539C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2277824	NM_002532.6(NUP88):c.1822T>C (p.Cys608Arg)	NUP88 (C608R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2277168	NM_002532.6(NUP88):c.625A>T (p.Thr209Ser)	NUP88 (T209S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2248080	NM_002532.6(NUP88):c.1888A>G (p.Lys630Glu)	NUP88 (K630E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2247933	NM_002532.6(NUP88):c.569T>G (p.Leu190Arg)	LOC126862474, NUP88 (L190R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2237970	NM_002532.6(NUP88):c.455C>T (p.Thr152Ile)	NUP88 (T152I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2223481	NM_002532.6(NUP88):c.193G>A (p.Gly65Ser)	NUP88 (G65S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2211754	NM_002532.6(NUP88):c.2132G>A (p.Arg711Gln)	NUP88 (R711Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1327052	NM_002532.6(NUP88):c.468-38G>T	LOC126862474, NUP88	Single nucleotide variant (intron variant)	Fetal akinesia deformation sequence 4 +1 more	GBenign
Select item 1327051	NM_002532.6(NUP88):c.1292-19G>A	NUP88	Single nucleotide variant (intron variant)	Fetal akinesia deformation sequence 4 +1 more	GBenign
Select item 1327050	NM_002532.6(NUP88):c.1389A>T (p.Pro463=)	NUP88	Single nucleotide variant (synonymous variant)	Fetal akinesia deformation sequence 4 +1 more	GBenign
Select item 1327049	NM_002532.6(NUP88):c.1836-38G>T	NUP88	Single nucleotide variant (intron variant)	Fetal akinesia deformation sequence 4 +1 more	GBenign
Select item 1327048	NM_002532.6(NUP88):c.1916+3C>T	NUP88	Single nucleotide variant (intron variant)	Fetal akinesia deformation sequence 4 +1 more	GBenign
Select item 1327047	NM_002532.6(NUP88):c.1916+25T>G	NUP88	Single nucleotide variant (intron variant)	Fetal akinesia deformation sequence 4 +1 more	GBenign
Select item 1327043	NM_002532.6(NUP88):c.2157A>G (p.Lys719=)	NUP88	Single nucleotide variant (synonymous variant)	Fetal akinesia deformation sequence 4 +1 more	GBenign
Select item 1327042	NM_002532.6(NUP88):c.2172T>C (p.His724=)	NUP88, RABEP1	Single nucleotide variant (synonymous variant +1 more)	Fetal akinesia deformation sequence 4 +1 more	GBenign
Select item 1029454	NM_002532.6(NUP88):c.1510C>T (p.Pro504Ser)	NUP88 (P504S)	Single nucleotide variant (missense variant)	Fetal akinesia deformation sequence 4	GUncertain significance
Select item 980143	GRCh37/hg19 17p13.2(chr17:5143295-5850209)x3	RABEP1, RPAIN +6 more	Copy number gain	not provided	GUncertain significance
Select item 816504	GRCh37/hg19 17p13.3-13.2(chr17:8547-5627408)x1	ABR, ALOX15 +115 more	Copy number loss	See cases	GPathogenic
Select item 688934	GRCh37/hg19 17p13.2(chr17:3759126-6128911)x1	ALOX15, ANKFY1 +48 more	Copy number loss	not provided	GUncertain significance
Select item 625578	GRCh37/hg19 17p13.3-13.2(chr17:47546-6287620)	ABR, ALOX15 +115 more	Copy number gain	Chromosome 17P13.3, telomeric, duplication syndrome	GPathogenic
Select item 625470	NM_002532.6(NUP88):c.1899_1901del (p.Glu634del)	NUP88 (E634del +1 more)	Deletion (inframe_deletion)	Fetal akinesia deformation sequence 4	GPathogenic
Select item 625469	NM_002532.6(NUP88):c.1525C>T (p.Arg509Ter)	NUP88 (R509*)	Single nucleotide variant (nonsense)	Fetal akinesia deformation sequence 4	GPathogenic
Select item 625468	NM_002532.6(NUP88):c.1300G>T (p.Asp434Tyr)	NUP88 (D434Y)	Single nucleotide variant (missense variant)	Fetal akinesia deformation sequence 4	GPathogenic
Select item 564377	GRCh37/hg19 17p13.3-12(chr17:525-11186432)x3	ABR, ACADVL +240 more	Copy number gain	not provided	GPathogenic
Select item 443659	GRCh37/hg19 17p13.3-12(chr17:525-15027737)x3	ABR, ACADVL +250 more	Copy number gain	See cases	GPathogenic
Select item 441816	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)x3	ALOX12, ALOX12B +1143 more	Copy number gain	See cases	GPathogenic
Select item 441815	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)	SPEM2, TBCD +1143 more	Copy number gain	See cases	GPathogenic
Select item 395716	GRCh37/hg19 17p13.3-13.1(chr17:1113102-6742486)	AIPL1, ALOX15 +115 more	Copy number gain	See cases	GPathogenic
Select item 154089	GRCh38/hg38 17p13.3-12(chr17:150732-14764202)x3	ABR, ABR-AS1 +962 more	Copy number gain	See cases	GPathogenic

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