SMC5[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 160862	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3	LOC130001539, LOC130001540 +3785 more	Copy number gain	See cases	GPathogenic
Select item 154945	GRCh38/hg38 9p24.3-q21.31(chr9:193412-79877816)x3	LOC130001810, LOC130001811 +1213 more	Copy number gain	See cases	GPathogenic
Select item 150340	GRCh38/hg38 9p11.2-q34.3(chr9:193412-138159073)x3	BSPRY, C5 +3784 more	Copy number gain	See cases	GPathogenic
Select item 150050	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138159073)x3	LOC113839508, LOC113839509 +3785 more	Copy number gain	See cases	GPathogenic
Select item 149828	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138124524)x3	FKBP15, FKTN +3785 more	Copy number gain	See cases	GPathogenic
Select item 146931	GRCh38/hg38 9p24.3-q21.12(chr9:193412-70630731)x3	ACER2, ACO1 +1061 more	Copy number gain	See cases	GPathogenic
Select item 146703	GRCh38/hg38 9p24.3-q21.13(chr9:193412-74615913)x3	LOC113839555, LOC113839556 +1119 more	Copy number gain	See cases	GPathogenic
Select item 59875	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138114463)x3	LOC130001667, LOC130001668 +3785 more	Copy number gain	See cases	GPathogenic
Select item 33205	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3	ABCA1, ABCA2 +3785 more	Copy number gain	See cases	GPathogenic
Select item 153561	GRCh38/hg38 9p24.3-q22.1(chr9:203861-88130444)x4	PUM3, QNG1 +1366 more	Copy number gain	See cases	GPathogenic
Select item 153518	GRCh38/hg38 9p24.3-q34.3(chr9:203861-138125937)x3	LOC116186942, LOC116186943 +3785 more	Copy number gain	See cases	GPathogenic
Select item 155409	GRCh38/hg38 9p24.3-q34.3(chr9:203862-138125937)x3	ABCA1, ABCA2 +3785 more	Copy number gain	See cases	GPathogenic
Select item 144309	GRCh38/hg38 9p24.3-q34.3(chr9:204193-138179445)	LOC121366033, LOC121366034 +3785 more	Copy number gain	See cases	GPathogenic
Select item 148455	GRCh38/hg38 9q21.11-21.12(chr9:68420349-70939579)x1	LOC130001865, LOC130001866 +70 more	Copy number loss	See cases	GLikely pathogenic
Select item 147624	GRCh38/hg38 9q21.11-31.2(chr9:68420430-106579493)x3	ABCA1, ABHD17B +1072 more	Copy number gain	See cases	GPathogenic
Select item 144150	GRCh38/hg38 9q21.11-21.13(chr9:68454847-76252863)x1	ABHD17B, ALDH1A1 +148 more	Copy number loss	See cases	GPathogenic
Select item 148901	GRCh38/hg38 9q21.11-21.32(chr9:68499530-83670227)x1	LOC130001938, LOC130001939 +263 more	Copy number loss	See cases	GPathogenic
Select item 155686	GRCh38/hg38 9q21.11-21.13(chr9:68624483-72028837)x3	ABHD17B, APBA1 +79 more	Copy number gain	See cases	GLikely pathogenic
Select item 151006	GRCh38/hg38 9q21.12-31.3(chr9:69627642-111454304)x3	ABCA1, ABHD17B +1188 more	Copy number gain	See cases	GPathogenic
Select item 3166400	NM_015110.4(SMC5):c.29C>T (p.Thr10Ile)	LOC130001875, SMC5 (T10I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2443267	NM_015110.4(SMC5):c.58C>G (p.Leu20Val)	LOC130001875, SMC5 (L20V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2255256	NM_015110.4(SMC5):c.65G>C (p.Arg22Thr)	LOC130001875, SMC5 (R22T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2481145	NM_015110.4(SMC5):c.74C>T (p.Ser25Leu)	LOC130001875, SMC5 (S25L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2254710	NM_015110.4(SMC5):c.137G>C (p.Gly46Ala)	LOC130001875, SMC5 (G46A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2619006	NM_015110.4(SMC5):c.217C>T (p.Pro73Ser)	SMC5 (P73S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2336970	NM_015110.4(SMC5):c.235G>A (p.Val79Ile)	SMC5 (V79I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 791299	NM_015110.4(SMC5):c.270G>A (p.Val90=)	SMC5	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3166402	NM_015110.4(SMC5):c.450C>G (p.Phe150Leu)	SMC5 (F150L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3166403	NM_015110.4(SMC5):c.629A>G (p.Lys210Arg)	SMC5 (K210R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2532672	NM_015110.4(SMC5):c.719T>C (p.Val240Ala)	SMC5 (V240A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2353033	NM_015110.4(SMC5):c.731A>G (p.Glu244Gly)	SMC5 (E244G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3166404	NM_015110.4(SMC5):c.737A>G (p.Tyr246Cys)	SMC5 (Y246C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2299944	NM_015110.4(SMC5):c.817G>T (p.Val273Leu)	SMC5 (V273L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2373294	NM_015110.4(SMC5):c.874G>C (p.Val292Leu)	SMC5 (V292L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3166405	NM_015110.4(SMC5):c.917T>C (p.Val306Ala)	SMC5 (V306A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2348017	NM_015110.4(SMC5):c.923G>A (p.Cys308Tyr)	SMC5 (C308Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2281805	NM_015110.4(SMC5):c.949C>T (p.Arg317Cys)	SMC5 (R317C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3166406	NM_015110.4(SMC5):c.977A>G (p.Glu326Gly)	SMC5 (E326G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3320895	NM_015110.4(SMC5):c.1051C>A (p.His351Asn)	SMC5 (H351N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3166389	NM_015110.4(SMC5):c.1081G>A (p.Val361Ile)	SMC5 (V361I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2443706	NM_015110.4(SMC5):c.1110GAG[1] (p.Arg372del)	SMC5 (R372del)	Microsatellite (inframe_deletion)	Atelis syndrome 2	GPathogenic
Select item 3166390	NM_015110.4(SMC5):c.1159C>G (p.Leu387Val)	SMC5 (L387V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3320892	NM_015110.4(SMC5):c.1178G>A (p.Cys393Tyr)	SMC5 (C393Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2681560	NM_015110.4(SMC5):c.1179C>T (p.Cys393=)	SMC5	Single nucleotide variant (synonymous variant)	EBV-positive nodal T- and NK-cell lymphoma	GLikely benign
Select item 2599443	NM_015110.4(SMC5):c.1183A>G (p.Asn395Asp)	SMC5 (N395D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2592983	NM_015110.4(SMC5):c.1225C>T (p.Arg409Trp)	SMC5 (R409W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2443707	NM_015110.4(SMC5):c.1273C>T (p.Arg425Ter)	SMC5	Single nucleotide variant (nonsense)	Atelis syndrome 2	GPathogenic
Select item 2457029	NM_015110.4(SMC5):c.1283G>A (p.Arg428Lys)	SMC5 (R428K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3166391	NM_015110.4(SMC5):c.1363A>G (p.Lys455Glu)	SMC5 (K455E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2268474	NM_015110.4(SMC5):c.1363A>C (p.Lys455Gln)	SMC5 (K455Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2462913	NM_015110.4(SMC5):c.1382G>A (p.Arg461His)	SMC5 (R461H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3320893	NM_015110.4(SMC5):c.1405T>A (p.Trp469Arg)	SMC5 (W469R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3166392	NM_015110.4(SMC5):c.1433A>G (p.Lys478Arg)	SMC5 (K478R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3166393	NM_015110.4(SMC5):c.1463C>T (p.Thr488Met)	SMC5 (T488M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3166394	NM_015110.4(SMC5):c.1559T>G (p.Met520Arg)	SMC5 (M520R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2469271	NM_015110.4(SMC5):c.1621C>T (p.Pro541Ser)	SMC5 (P541S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2297042	NM_015110.4(SMC5):c.1625A>G (p.Lys542Arg)	SMC5 (K542R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2455949	NM_015110.4(SMC5):c.1789A>G (p.Arg597Gly)	SMC5 (R597G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2605766	NM_015110.4(SMC5):c.1805G>A (p.Arg602Gln)	SMC5 (R602Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3166395	NM_015110.4(SMC5):c.1823G>A (p.Arg608Gln)	SMC5 (R608Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2486639	NM_015110.4(SMC5):c.1858G>A (p.Val620Met)	SMC5 (V620M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2316205	NM_015110.4(SMC5):c.1949A>G (p.Glu650Gly)	SMC5 (E650G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 783548	NM_015110.4(SMC5):c.1975C>T (p.Leu659=)	SMC5	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 785287	NM_015110.4(SMC5):c.2076A>G (p.Gln692=)	SMC5	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2324193	NM_015110.4(SMC5):c.2086G>A (p.Glu696Lys)	SMC5 (E696K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 768302	NM_015110.4(SMC5):c.2198G>A (p.Arg733Gln)	SMC5 (R733Q)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 785288	NM_015110.4(SMC5):c.2274+6G>A	SMC5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3166396	NM_015110.4(SMC5):c.2312T>C (p.Ile771Thr)	SMC5 (I771T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2332452	NM_015110.4(SMC5):c.2343G>T (p.Lys781Asn)	SMC5 (K781N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3166397	NM_015110.4(SMC5):c.2436A>T (p.Leu812Phe)	SMC5 (L812F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3320894	NM_015110.4(SMC5):c.2473C>G (p.Gln825Glu)	SMC5 (Q825E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2615237	NM_015110.4(SMC5):c.2525A>T (p.Gln842Leu)	SMC5 (Q842L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2239573	NM_015110.4(SMC5):c.2674G>A (p.Glu892Lys)	SMC5 (E892K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3320897	NM_015110.4(SMC5):c.2681C>T (p.Thr894Ile)	SMC5 (T894I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2205583	NM_015110.4(SMC5):c.2687G>A (p.Arg896Lys)	SMC5 (R896K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2258770	NM_015110.4(SMC5):c.2699T>A (p.Ile900Lys)	SMC5 (I900K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2528425	NM_015110.4(SMC5):c.2834A>G (p.Asn945Ser)	SMC5 (N945S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2610029	NM_015110.4(SMC5):c.2885A>C (p.Asn962Thr)	SMC5 (N962T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2558704	NM_015110.4(SMC5):c.2896T>C (p.Tyr966His)	SMC5 (Y966H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2443708	NM_015110.4(SMC5):c.2968C>G (p.His990Asp)	SMC5	Single nucleotide variant (missense variant)	Atelis syndrome 2	GPathogenic
Select item 2476733	NM_015110.4(SMC5):c.2980G>A (p.Gly994Ser)	SMC5 (G994S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3166401	NM_015110.4(SMC5):c.3097G>A (p.Val1033Met)	SMC5 (V1033M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2543363	NM_015110.4(SMC5):c.3272G>A (p.Arg1091Gln)	SMC5 (R1091Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3320896	NM_015110.4(SMC5):c.3280C>T (p.Arg1094Cys)	SMC5 (R1094C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2308850	NM_015110.4(SMC5):c.3281G>A (p.Arg1094His)	SMC5 (R1094H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3063071	GRCh37/hg19 9p24.3-q34.3(chr9:203861-141020389)x3	DMAC1, DMRT1 +769 more	Copy number gain	not specified	GPathogenic
Select item 2684578	GRCh37/hg19 9q21.12(chr9:72519172-73192366)x3	CFAP95, KLF9 +3 more	Copy number gain	not provided	GUncertain significance
Select item 1809319	GRCh37/hg19 9q21.11-21.13(chr9:70966262-76901382)x3	ABHD17B, ALDH1A1 +24 more	Copy number gain	not provided	GUncertain significance
Select item 1711101	GRCh37/hg19 9p24.3-q34.11(chr9:203861-131603223)x3	ADAMTSL1, CEP78 +596 more	Copy number gain	See cases	GPathogenic
Select item 1703688	GRCh37/hg19 9p22.1-q33.1(chr9:19356861-119513311)	ATOSB, ATP6V1G1 +417 more	Copy number loss	Distal tetrasomy 15q	GUncertain significance
Select item 1527521	GRCh37/hg19 9q21.11-33.2(chr9:71349994-122603410)	ABCA1, ABHD17B +261 more	Copy number gain	not specified	GLikely pathogenic
Select item 1527491	GRCh37/hg19 9p24.3-q34.3(chr9:353349-141020389)	ANKRD18A, ANKRD18B +768 more	Copy number gain	not specified	GPathogenic
Select item 1527488	GRCh37/hg19 9p24.3-q21.32(chr9:203861-84155399)	SPATA31A5, SPATA31A6 +257 more	Copy number gain	not specified	GPathogenic
Select item 694460	NC_000009.11:g.12246100_101559378inv	ANKS6, ANP32B +326 more	Inversion	Abnormal chromosome morphology +1 more	GLikely pathogenic
Select item 687100	GRCh37/hg19 9q21.11-34.3(chr9:71416475-141020389)x3	AMBP, ANAPC2 +552 more	Copy number gain	not provided	GPathogenic
Select item 685659	GRCh37/hg19 9q21.11-21.31(chr9:70974661-81829792)x1	ABHD17B, ALDH1A1 +42 more	Copy number loss	not provided	GPathogenic
Select item 685192	GRCh37/hg19 9p24.3-q34.3(chr9:203861-141020388)x3	MSMP, OR13D1 +769 more	Copy number gain	not provided	GPathogenic
Select item 685094	GRCh37/hg19 9q21.12(chr9:72519550-73191986)x3	KLF9, SMC5 +3 more	Copy number gain	not provided	GUncertain significance
Select item 617751	Single allele	APBA1, APTX +185 more	Complex	Glioma	GLikely pathogenic
Select item 563680	GRCh37/hg19 9q21.11-21.32(chr9:68999534-84656998)x1	ABHD17B, ALDH1A1 +54 more	Copy number loss	not provided	GPathogenic

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