NUP107[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 150740	GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3	LOC130008916, LOC130008917 +4836 more	Copy number gain	See cases	GPathogenic
Select item 154378	GRCh38/hg38 12q14.3-15(chr12:65445176-71026337)x1	BEST3, CAND1 +163 more	Copy number loss	See cases	GPathogenic
Select item 146282	GRCh38/hg38 12q15-21.2(chr12:68011417-75383054)x1	ATXN7L3B, BEST3 +141 more	Copy number loss	See cases	GLikely pathogenic
Select item 1320404	NC_000012.12:g.68686678C>T	LOC100507250, NUP107	Single nucleotide variant	not provided	GLikely benign
Select item 1198391	NR_038930.1(LOC100507250):n.47C>G	LOC100507250, NUP107	Single nucleotide variant (non-coding transcript variant)	not provided	GLikely benign
Select item 1222965	NR_038930.1(LOC100507250):n.24T>C	LOC100507250, NUP107	Single nucleotide variant (non-coding transcript variant)	not provided	GBenign
Select item 1269166	NC_000012.12:g.68686948T>G	NUP107	Single nucleotide variant	not specified +1 more	GBenign
Select item 3029331	NM_020401.4(NUP107):c.8+10G>A	NUP107	Single nucleotide variant (intron variant)	NUP107-related disorder	GLikely benign
Select item 1260392	NM_020401.4(NUP107):c.9-146G>A	NUP107	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1201224	NM_020401.4(NUP107):c.9-91del	NUP107	Deletion (intron variant)	not provided	GLikely benign
Select item 1272631	NM_020401.4(NUP107):c.9-73A>G	NUP107	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
Select item 619059	NM_020401.4(NUP107):c.61C>T (p.Arg21Trp)	NUP107 (R21W)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2337393	NM_020401.4(NUP107):c.62G>A (p.Arg21Gln)	NUP107 (R21Q)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2975648	NM_020401.4(NUP107):c.63G>T (p.Arg21=)	NUP107	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1281812	NM_020401.4(NUP107):c.72G>A (p.Arg24=)	NUP107	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +3 more	GBenign
Select item 734342	NM_020401.4(NUP107):c.91A>G (p.Arg31Gly)	NUP107 (R31G)	Single nucleotide variant (5 prime UTR variant +1 more)	NUP107-related disorder +2 more	GBenign/Likely benign
Select item 1269304	NM_020401.4(NUP107):c.101-76A>G	NUP107	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
Select item 2976030	NM_020401.4(NUP107):c.101-18T>C	NUP107	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1911577	NM_020401.4(NUP107):c.101-18T>G	NUP107	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3202930	NM_020401.4(NUP107):c.110C>T (p.Ser37Phe)	NUP107 (S37F)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2259015	NM_020401.4(NUP107):c.142A>G (p.Arg48Gly)	NUP107 (R48G)	Single nucleotide variant (synonymous variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2198280	NM_020401.4(NUP107):c.161G>A (p.Arg54Gln)	NUP107 (R54Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2273069	NM_020401.4(NUP107):c.166C>T (p.Pro56Ser)	NUP107 (P56S)	Single nucleotide variant (synonymous variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2082844	NM_020401.4(NUP107):c.178C>T (p.Arg60Ter)	NUP107 (R60*)	Single nucleotide variant (nonsense +1 more)	not provided	GPathogenic
Select item 2834123	NM_020401.4(NUP107):c.187+13G>T	NUP107	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1629594	NM_020401.4(NUP107):c.187+19A>T	NUP107	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1247966	NM_020401.4(NUP107):c.188-285C>T	NUP107	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1271355	NM_020401.4(NUP107):c.188-139A>G	NUP107	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3031601	NM_020401.4(NUP107):c.188-37G>T	NUP107	Single nucleotide variant (intron variant)	NUP107-related disorder	GLikely benign
Select item 2972032	NM_020401.4(NUP107):c.188-13C>A	NUP107 (L30I)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 1634479	NM_020401.4(NUP107):c.195A>G (p.Pro65=)	NUP107	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1905086	NM_020401.4(NUP107):c.203G>A (p.Arg68Gln)	NUP107 (R68Q +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2077024	NM_020401.4(NUP107):c.219G>C (p.Gln73His)	NUP107 (Q44H +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2568269	NM_020401.4(NUP107):c.257C>T (p.Ser86Leu)	NUP107 (S57L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1942304	NM_020401.4(NUP107):c.262C>T (p.Arg88Ter)	NUP107 (R59* +1 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2401174	NM_020401.4(NUP107):c.269C>T (p.Thr90Met)	NUP107 (T90M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2184709	NM_020401.4(NUP107):c.270G>A (p.Thr90=)	NUP107	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2858873	NM_020401.4(NUP107):c.273G>A (p.Gln91=)	NUP107	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 183304	NM_020401.4(NUP107):c.303G>A (p.Met101Ile)	NUP107 (M101I +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic
Select item 2788258	NM_020401.4(NUP107):c.303+2T>C	NUP107	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
Select item 1288279	NM_020401.4(NUP107):c.303+15A>G	NUP107	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
Select item 1225451	NM_020401.4(NUP107):c.303+206T>C	NUP107	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1269559	NM_020401.4(NUP107):c.303+244G>A	NUP107	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1227616	NM_020401.4(NUP107):c.304-263G>A	NUP107	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1280348	NM_020401.4(NUP107):c.304-127dup	NUP107	Duplication (intron variant)	not provided	GBenign
Select item 1195786	NM_020401.4(NUP107):c.304-112dup	NUP107	Duplication (intron variant)	not provided	GLikely benign
Select item 1193360	NM_020401.4(NUP107):c.304-112del	NUP107	Deletion (intron variant)	not provided	GLikely benign
Select item 3023882	NM_020401.4(NUP107):c.304-4dup	NUP107	Duplication (intron variant)	not provided	GBenign
Select item 1902879	NM_020401.4(NUP107):c.304-13G>A	NUP107	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2046824	NM_020401.4(NUP107):c.304-10T>G	NUP107	Single nucleotide variant (intron variant)	not provided +1 more	GLikely benign
Select item 1693068	NM_020401.4(NUP107):c.305T>A (p.Val102Asp)	NUP107 (V102D +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1500731	NM_020401.4(NUP107):c.352C>T (p.Arg118Cys)	NUP107 (R118C +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 774484	NM_020401.4(NUP107):c.353G>A (p.Arg118His)	NUP107 (R118H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +5 more	GLikely benign
Select item 709091	NM_020401.4(NUP107):c.357C>T (p.Ser119=)	NUP107	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 2068943	NM_020401.4(NUP107):c.368C>G (p.Thr123Arg)	NUP107 (T123R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 3031733	NM_020401.4(NUP107):c.387T>C (p.Ser129=)	NUP107	Single nucleotide variant (synonymous variant)	NUP107-related disorder	GLikely benign
Select item 1335113	NM_020401.4(NUP107):c.415G>A (p.Val139Ile)	NUP107 (V110I +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2053998	NM_020401.4(NUP107):c.424C>T (p.Arg142Cys)	NUP107 (R113C +1 more)	Single nucleotide variant (missense variant)	NUP107-related disorder +1 more	GConflicting classifications of pathogenicity
Select item 3202942	NM_020401.4(NUP107):c.425G>A (p.Arg142His)	NUP107 (R142H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3234285	NM_020401.4(NUP107):c.426T>C (p.Arg142=)	NUP107	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1962924	NM_020401.4(NUP107):c.438T>C (p.Pro146=)	NUP107	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2703287	NM_020401.4(NUP107):c.448+16G>A	NUP107	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1203885	NM_020401.4(NUP107):c.448+202C>T	NUP107	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1211573	NM_020401.4(NUP107):c.448+300C>G	NUP107	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1190841	NM_020401.4(NUP107):c.449-336C>T	NUP107	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1243225	NM_020401.4(NUP107):c.449-250T>C	NUP107	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1683922	NM_020401.4(NUP107):c.449-239G>A	NUP107	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1328665	NM_020401.4(NUP107):c.449-145T>C	NUP107	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1233029	NM_020401.4(NUP107):c.449-13dup	NUP107	Duplication (intron variant)	not specified +1 more	GBenign
Select item 1663652	NM_020401.4(NUP107):c.449-11A>T	NUP107	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1205995	NM_020401.4(NUP107):c.449-4C>T	NUP107	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 219130	NM_020401.4(NUP107):c.469G>T (p.Asp157Tyr)	NUP107 (D157Y +1 more)	Single nucleotide variant (missense variant)	Nephrotic syndrome, type 11	GLikely pathogenic
Select item 763983	NM_020401.4(NUP107):c.486T>C (p.Phe162=)	NUP107	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 732382	NM_020401.4(NUP107):c.496T>C (p.Ser166Pro)	NUP107 (S137P +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2964616	NM_020401.4(NUP107):c.501G>A (p.Ser167=)	NUP107	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1049513	NM_020401.4(NUP107):c.503G>A (p.Ser168Asn)	NUP107 (S139N +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3202943	NM_020401.4(NUP107):c.514G>C (p.Asp172His)	NUP107 (D143H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 747319	NM_020401.4(NUP107):c.519T>C (p.Leu173=)	NUP107	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1938781	NM_020401.4(NUP107):c.528G>A (p.Glu176=)	NUP107	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1207608	NM_020401.4(NUP107):c.534A>G (p.Glu178=)	NUP107	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 2266465	NM_020401.4(NUP107):c.541T>C (p.Cys181Arg)	NUP107 (C152R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1253550	NM_020401.4(NUP107):c.552+52A>G	NUP107	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
Select item 1290679	NM_020401.4(NUP107):c.552+101G>C	NUP107	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3202944	NM_020401.4(NUP107):c.553-5T>C	NUP107	Single nucleotide variant (intron variant)	Inborn genetic diseases	GUncertain significance
Select item 1964591	NM_020401.4(NUP107):c.553-2A>C	NUP107	Single nucleotide variant (splice acceptor variant)	not provided	GLikely pathogenic
Select item 2039673	NM_020401.4(NUP107):c.566G>A (p.Ser189Asn)	NUP107 (S189N +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1687223	NM_020401.4(NUP107):c.580C>T (p.Arg194Ter)	NUP107 (R165* +1 more)	Single nucleotide variant (nonsense)	Nephrotic syndrome, type 11	GLikely pathogenic
Select item 591842	NM_020401.4(NUP107):c.608dup (p.Thr205fs)	NUP107 (T205fs +1 more)	Duplication (frameshift variant)	not provided	GUncertain significance
Select item 1991220	NM_020401.4(NUP107):c.619A>G (p.Ser207Gly)	NUP107 (S207G +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2538260	NM_020401.4(NUP107):c.626T>C (p.Leu209Pro)	NUP107 (L180P +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1200611	NM_020401.4(NUP107):c.654A>G (p.Thr218=)	NUP107	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 2345774	NM_020401.4(NUP107):c.676T>C (p.Tyr226His)	NUP107 (Y226H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2075730	NM_020401.4(NUP107):c.680+5T>C	NUP107	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 782564	NM_020401.4(NUP107):c.680+9G>A	NUP107	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1193317	NM_020401.4(NUP107):c.681-204T>C	NUP107	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1179459	NM_020401.4(NUP107):c.681-118A>G	NUP107	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1989373	NM_020401.4(NUP107):c.681-12A>G	NUP107	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1392650	NM_020401.4(NUP107):c.709G>A (p.Glu237Lys)	NUP107 (E237K +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2681772	NM_020401.4(NUP107):c.727A>G (p.Thr243Ala)	NUP107 (T214A +1 more)	Single nucleotide variant (missense variant)	Nephrotic syndrome, type 11	GUncertain significance
Select item 3023178	NM_020401.4(NUP107):c.729+11T>C	NUP107	Single nucleotide variant (intron variant)	not provided	GBenign

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