CPOX[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 154258	GRCh38/hg38 3q11.1-24(chr3:93800620-145695381)x3	AMOTL2, DNAJC13 +1343 more	Copy number gain	See cases	GPathogenic
Select item 155192	GRCh38/hg38 3q11.1-13.11(chr3:93819623-103888749)x3	ABI3BP, ADGRG7 +171 more	Copy number gain	See cases	GLikely pathogenic
Select item 145994	GRCh38/hg38 3q11.1-13.31(chr3:93819623-116887056)x1	ADGRG7, ABHD10 +430 more	Copy number loss	See cases	GPathogenic
Select item 57803	GRCh38/hg38 3q11.1-21.1(chr3:93886671-123216683)x1	ALCAM, BTLA +637 more	Copy number loss	See cases	GPathogenic
Select item 2579175	GRCh38/hg38 3q11.1-21.2(chr3:93979547-124774010)x1	ABHD10, ABI3BP +681 more	Copy number loss	Chromosome 3q13.31 deletion syndrome	GPathogenic
Select item 149128	GRCh38/hg38 3q11.2-13.31(chr3:97795369-115663349)x1	ABHD10, ABI3BP +397 more	Copy number loss	See cases	GPathogenic
Select item 151076	GRCh38/hg38 3q11.2-12.1(chr3:98567691-98609411)x3	CPOX, LOC129937121 +1 more	Copy number gain	See cases	GUncertain significance
Select item 346949	NM_000097.7(CPOX):c.*1174G>A	CPOX	Single nucleotide variant (3 prime UTR variant)	Hereditary coproporphyria	GUncertain significance
Select item 346950	NM_000097.7(CPOX):c.*1153G>C	CPOX	Single nucleotide variant (3 prime UTR variant)	Hereditary coproporphyria	GUncertain significance
Select item 346951	NM_000097.7(CPOX):c.*1105A>G	CPOX	Single nucleotide variant (3 prime UTR variant)	Hereditary coproporphyria	GBenign
Select item 346952	NM_000097.7(CPOX):c.*1076G>A	CPOX	Single nucleotide variant (3 prime UTR variant)	Hereditary coproporphyria	GUncertain significance
Select item 346953	NM_000097.7(CPOX):c.*1072C>T	CPOX	Single nucleotide variant (3 prime UTR variant)	Hereditary coproporphyria	GBenign
Select item 902612	NM_000097.7(CPOX):c.*1046A>G	CPOX	Single nucleotide variant (3 prime UTR variant)	Hereditary coproporphyria	GUncertain significance
Select item 346954	NM_000097.7(CPOX):c.*939A>G	CPOX	Single nucleotide variant (3 prime UTR variant)	Hereditary coproporphyria	GUncertain significance
Select item 346955	NM_000097.7(CPOX):c.*927G>A	CPOX	Single nucleotide variant (3 prime UTR variant)	Hereditary coproporphyria	GBenign
Select item 902613	NM_000097.7(CPOX):c.*745A>G	CPOX	Single nucleotide variant (3 prime UTR variant)	Hereditary coproporphyria	GUncertain significance
Select item 902614	NM_000097.7(CPOX):c.*712T>C	CPOX	Single nucleotide variant (3 prime UTR variant)	Hereditary coproporphyria	GUncertain significance
Select item 346956	NM_000097.7(CPOX):c.*679G>A	CPOX	Single nucleotide variant (3 prime UTR variant)	Hereditary coproporphyria	GBenign
Select item 346957	NM_000097.7(CPOX):c.*633A>C	CPOX	Single nucleotide variant (3 prime UTR variant)	Hereditary coproporphyria	GUncertain significance
Select item 903461	NM_000097.7(CPOX):c.*595C>A	CPOX	Single nucleotide variant (3 prime UTR variant)	Hereditary coproporphyria	GBenign
Select item 346958	NM_000097.7(CPOX):c.578_579insTTCTTA	CPOX	Insertion (3 prime UTR variant)	Hereditary coproporphyria	GBenign
Select item 903462	NM_000097.7(CPOX):c.*516A>C	CPOX	Single nucleotide variant (3 prime UTR variant)	Hereditary coproporphyria	GUncertain significance
Select item 346959	NM_000097.7(CPOX):c.*506C>T	CPOX	Single nucleotide variant (3 prime UTR variant)	Hereditary coproporphyria	GUncertain significance
Select item 346960	NM_000097.7(CPOX):c.498_499insCA	CPOX	Insertion (3 prime UTR variant)	Hereditary coproporphyria	GUncertain significance
Select item 346961	NM_000097.7(CPOX):c.*475T>A	CPOX	Single nucleotide variant (3 prime UTR variant)	Hereditary coproporphyria	GBenign
Select item 346962	NM_000097.7(CPOX):c.*381C>T	CPOX	Single nucleotide variant (3 prime UTR variant)	Hereditary coproporphyria	GBenign
Select item 903463	NM_000097.7(CPOX):c.*351A>G	CPOX	Single nucleotide variant (3 prime UTR variant)	Hereditary coproporphyria	GUncertain significance
Select item 346963	NM_000097.7(CPOX):c.*340A>G	CPOX	Single nucleotide variant (3 prime UTR variant)	Hereditary coproporphyria	GUncertain significance
Select item 346964	NM_000097.7(CPOX):c.*329G>C	CPOX	Single nucleotide variant (3 prime UTR variant)	Hereditary coproporphyria	GBenign
Select item 346965	NM_000097.7(CPOX):c.*227G>A	CPOX	Single nucleotide variant (3 prime UTR variant)	Hereditary coproporphyria	GBenign
Select item 899847	NM_000097.7(CPOX):c.*195T>C	CPOX	Single nucleotide variant (3 prime UTR variant)	Hereditary coproporphyria	GBenign
Select item 346966	NM_000097.7(CPOX):c.*194G>T	CPOX	Single nucleotide variant (3 prime UTR variant)	Hereditary coproporphyria	GUncertain significance
Select item 899848	NM_000097.7(CPOX):c.*183A>G	CPOX	Single nucleotide variant (3 prime UTR variant)	Hereditary coproporphyria	GUncertain significance
Select item 346967	NM_000097.7(CPOX):c.*162A>C	CPOX	Single nucleotide variant (3 prime UTR variant)	Hereditary coproporphyria +1 more	GBenign
Select item 346968	NM_000097.7(CPOX):c.*136G>C	CPOX	Single nucleotide variant (3 prime UTR variant)	Hereditary coproporphyria	GBenign
Select item 346969	NM_000097.7(CPOX):c.*95G>A	CPOX	Single nucleotide variant (3 prime UTR variant)	Hereditary coproporphyria	GBenign
Select item 346970	NM_000097.7(CPOX):c.*73T>C	CPOX	Single nucleotide variant (3 prime UTR variant)	Hereditary coproporphyria	GBenign
Select item 346971	NM_000097.7(CPOX):c.*66G>A	CPOX	Single nucleotide variant (3 prime UTR variant)	Hereditary coproporphyria	GUncertain significance
Select item 346972	NM_000097.7(CPOX):c.*28del	CPOX	Deletion (3 prime UTR variant)	Hereditary coproporphyria	GLikely benign
Select item 2629606	NM_000097.7(CPOX):c.1345C>T (p.Pro449Ser)	CPOX (P449S)	Single nucleotide variant (missense variant)	CPOX-related condition	GUncertain significance
Select item 2961116	NM_000097.7(CPOX):c.1340G>A (p.Arg447His)	CPOX (R447H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 459	NM_000097.7(CPOX):c.1339C>T (p.Arg447Cys)	CPOX (R447C)	Single nucleotide variant (missense variant)	Hereditary coproporphyria +1 more	GConflicting classifications of pathogenicity
Select item 3031862	NM_000097.7(CPOX):c.1336C>A (p.Leu446Ile)	CPOX (L446I)	Single nucleotide variant (missense variant)	CPOX-related condition	GUncertain significance
Select item 2093077	NM_000097.7(CPOX):c.1334T>A (p.Val445Asp)	CPOX (V445D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1036864	NM_000097.7(CPOX):c.1312A>G (p.Lys438Glu)	CPOX (K438E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 798192	NM_000097.7(CPOX):c.1292A>G (p.His431Arg)	CPOX (H431R)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1128728	NM_000097.7(CPOX):c.1278-6G>T	CPOX	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1983687	NM_000097.7(CPOX):c.1277+16A>G	CPOX	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1450525	NM_000097.7(CPOX):c.1277+9A>G	CPOX	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 457	NM_000097.7(CPOX):c.1277+3A>G	CPOX	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1362597	NM_000097.7(CPOX):c.1277+1G>A	CPOX	Single nucleotide variant (splice donor variant)	not provided	GUncertain significance
Select item 452	NM_000097.7(CPOX):c.1277G>A (p.Arg426Gln)	CPOX (R426Q)	Single nucleotide variant (missense variant)	Coproporphyria	GPathogenic
Select item 1457857	NM_000097.7(CPOX):c.1268dup (p.Thr424fs)	CPOX (T424fs)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 346973	NM_000097.7(CPOX):c.1266T>A (p.Pro422=)	CPOX	Single nucleotide variant (synonymous variant)	Hereditary coproporphyria +1 more	GLikely benign
Select item 1335535	NM_000097.7(CPOX):c.1253T>C (p.Leu418Ser)	CPOX (L418S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 901020	NM_000097.7(CPOX):c.1230A>G (p.Pro410=)	CPOX	Single nucleotide variant (synonymous variant)	Hereditary coproporphyria	GUncertain significance
Select item 453	NM_000097.7(CPOX):c.1210A>G (p.Lys404Glu)	CPOX (K404E)	Single nucleotide variant (missense variant)	Harderoporphyria +2 more	GPathogenic/Likely pathogenic
Select item 1431929	NM_000097.7(CPOX):c.1196A>G (p.Tyr399Cys)	CPOX (Y399C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1129461	NM_000097.7(CPOX):c.1176T>C (p.Tyr392=)	CPOX	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 901021	NM_000097.7(CPOX):c.1173G>T (p.Arg391=)	CPOX	Single nucleotide variant (synonymous variant)	Hereditary coproporphyria	GUncertain significance
Select item 1609448	NM_000097.7(CPOX):c.1173-16G>T	CPOX	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1287194	NM_000097.7(CPOX):c.1172+213G>A	CPOX	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1536879	NM_000097.7(CPOX):c.1172+20A>G	CPOX	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1601251	NM_000097.7(CPOX):c.1172+17C>T	CPOX	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 346974	NM_000097.7(CPOX):c.1172+14A>G	CPOX	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 901022	NM_000097.7(CPOX):c.1172+7G>A	CPOX	Single nucleotide variant (intron variant)	Hereditary coproporphyria	GLikely benign
Select item 2682840	NM_000097.7(CPOX):c.1172+5G>T	CPOX	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1444082	NM_000097.7(CPOX):c.1172G>A (p.Arg391Gln)	CPOX (R391Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1473462	NM_000097.7(CPOX):c.1171C>T (p.Arg391Trp)	CPOX (R391W)	Single nucleotide variant (missense variant)	CPOX-related disorders +1 more	GConflicting classifications of pathogenicity
Select item 901023	NM_000097.7(CPOX):c.1149G>A (p.Leu383=)	CPOX	Single nucleotide variant (synonymous variant)	CPOX-related condition +2 more	GBenign/Likely benign
Select item 901024	NM_000097.7(CPOX):c.1138C>G (p.Gln380Glu)	CPOX (Q380E)	Single nucleotide variant (missense variant)	Hereditary coproporphyria +1 more	GConflicting classifications of pathogenicity
Select item 2977152	NM_000097.7(CPOX):c.1134C>T (p.Thr378=)	CPOX	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1691675	NM_000097.7(CPOX):c.1133C>T (p.Thr378Ile)	CPOX (T378I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 346975	NM_000097.7(CPOX):c.1108A>G (p.Lys370Glu)	CPOX (K370E)	Single nucleotide variant (missense variant)	Hereditary coproporphyria	GBenign
Select item 1716081	NM_000097.7(CPOX):c.1077G>C (p.Arg359Ser)	CPOX (R359S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2971443	NM_000097.7(CPOX):c.1070G>A (p.Cys357Tyr)	CPOX (C357Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1353614	NM_000097.7(CPOX):c.1063C>T (p.Gln355Ter)	CPOX (Q355*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 346976	NM_000097.7(CPOX):c.1054C>T (p.Arg352Cys)	CPOX (R352C)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 901578	NM_000097.7(CPOX):c.1028A>T (p.Asp343Val)	CPOX (D343V)	Single nucleotide variant (missense variant)	Hereditary coproporphyria	GLikely benign
Select item 650106	NM_000097.7(CPOX):c.1009A>G (p.Ile337Val)	CPOX (I337V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 712438	NM_000097.7(CPOX):c.1002T>C (p.Ile334=)	CPOX	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 449558	NM_000097.7(CPOX):c.995G>A (p.Arg332Gln)	CPOX (R332Q)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 451	NM_000097.7(CPOX):c.991C>T (p.Arg331Trp)	CPOX (R331W)	Single nucleotide variant (missense variant)	Hereditary coproporphyria	GUncertain significance
Select item 346977	NM_000097.7(CPOX):c.990A>G (p.Glu330=)	CPOX	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 461	NM_000097.7(CPOX):c.982C>T (p.Arg328Cys)	CPOX (R328C)	Single nucleotide variant (missense variant)	Coproporphyria	GPathogenic
Select item 126445	NM_000097.7(CPOX):c.980A>G (p.His327Arg)	CPOX (H327R)	Single nucleotide variant (missense variant)	Harderoporphyria	GPathogenic
Select item 2476864	NM_000097.7(CPOX):c.973A>G (p.Ile325Val)	CPOX (I325V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 901579	NM_000097.7(CPOX):c.954-15C>T	CPOX	Single nucleotide variant (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 1923161	NM_000097.7(CPOX):c.954-17G>A	CPOX	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1266620	NM_000097.7(CPOX):c.954-222A>G	CPOX	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1248269	NM_000097.7(CPOX):c.954-282A>G	CPOX	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1175575	NM_000097.7(CPOX):c.954-284T>C	CPOX	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1252313	NM_000097.7(CPOX):c.954-285T>G	CPOX	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1322158	NM_000097.7(CPOX):c.953+2T>C	CPOX	Single nucleotide variant (splice donor variant)	not provided	GPathogenic
Select item 1709963	NM_000097.7(CPOX):c.946A>T (p.Lys316Ter)	CPOX (K316*)	Single nucleotide variant (nonsense)	Hereditary coproporphyria	GLikely pathogenic
Select item 422712	NM_000097.7(CPOX):c.939dup (p.Lys314fs)	CPOX (K314fs)	Duplication (frameshift variant)	not provided	GPathogenic/Likely pathogenic
Select item 1693874	NM_000097.7(CPOX):c.938C>G (p.Pro313Arg)	CPOX (P313R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1306846	NM_000097.7(CPOX):c.937C>A (p.Pro313Thr)	CPOX (P313T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1188556	NM_000097.7(CPOX):c.923G>A (p.Gly308Asp)	CPOX (G308D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1408242	NM_000097.7(CPOX):c.920A>G (p.His307Arg)	CPOX (H307R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

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