SENP5[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 145614	GRCh38/hg38 3q13.11-29(chr3:103426882-198110178)x3	BPESC1, BTLA +2645 more	Copy number gain	See cases	GPathogenic
Select item 57983	GRCh38/hg38 3q24-29(chr3:147521892-198096565)x3	BDH1, C3orf33 +1449 more	Copy number gain	See cases	GPathogenic
Select item 150609	GRCh38/hg38 3q25.1-29(chr3:152100512-198118383)x3	LINC00578, LINC00880 +1317 more	Copy number gain	See cases	GPathogenic
Select item 154213	GRCh38/hg38 3q25.31-29(chr3:156118441-198125115)x3	PAK2, PARL +1246 more	Copy number gain	See cases	GPathogenic
Select item 152257	GRCh38/hg38 3q25.31-29(chr3:156321878-198113452)x3	LOC129937828, LOC129937829 +1244 more	Copy number gain	See cases	GPathogenic
Select item 57984	GRCh38/hg38 3q25.31-29(chr3:157293378-198134727)x3	LOC129938023, LOC129938024 +1200 more	Copy number gain	See cases	GPathogenic
Select item 155627	GRCh38/hg38 3q26.1-29(chr3:166137209-198125115)x3	ABCC5, ABCC5-AS1 +1064 more	Copy number gain	See cases	GPathogenic
Select item 148012	GRCh38/hg38 3q26.2-29(chr3:168167568-198110178)x3	ABCC5, ABCC5-AS1 +1041 more	Copy number gain	See cases	GPathogenic
Select item 149685	GRCh38/hg38 3q26.32-29(chr3:176168525-198118383)x3	ALG3, AP2M1 +867 more	Copy number gain	See cases	GPathogenic
Select item 148947	GRCh38/hg38 3q26.32-29(chr3:176439911-198118383)x3	ABCC5, ABCC5-AS1 +866 more	Copy number gain	See cases	GPathogenic
Select item 57868	GRCh38/hg38 3q27.2-29(chr3:185485849-198110178)x1	LOC110121069, LOC110121110 +557 more	Copy number loss	See cases	GPathogenic
Select item 57997	GRCh38/hg38 3q28-29(chr3:189265371-198110178)x3	ACAP2, APOD +411 more	Copy number gain	See cases	GPathogenic
Select item 57998	GRCh38/hg38 3q28-29(chr3:190667663-198110178)x3	ACAP2, APOD +375 more	Copy number gain	See cases	GPathogenic
Select item 148761	GRCh38/hg38 3q29(chr3:192752937-198118383)x3	ACAP2, APOD +337 more	Copy number gain	See cases	GPathogenic
Select item 155434	GRCh38/hg38 3q29(chr3:193704605-198125115)x3	ACAP2, APOD +313 more	Copy number gain	See cases	GPathogenic
Select item 149477	GRCh38/hg38 3q29(chr3:194296197-198110198)x3	SENP5, XXYLT1 +273 more	Copy number gain	See cases	GPathogenic
Select item 147306	GRCh38/hg38 3q29(chr3:194338534-197693741)x1	ACAP2, APOD +239 more	Copy number loss	See cases	GPathogenic
Select item 58000	GRCh38/hg38 3q29(chr3:194424496-198168758)x3	ACAP2, APOD +264 more	Copy number gain	See cases	GPathogenic
Select item 148016	GRCh38/hg38 3q29(chr3:195711798-198110178)x3	BDH1, CEP19 +169 more	Copy number gain	See cases	GPathogenic
Select item 59685	GRCh38/hg38 3q29(chr3:195711798-197976152)x3	MELTF-AS1, MIR4797 +166 more	Copy number gain	See cases	GUncertain significance
Select item 59981	GRCh38/hg38 3q29(chr3:195755702-197583580)x3	BDH1, CEP19 +133 more	Copy number gain	See cases	GPathogenic
Select item 1679598	Single allele	LOC115995538, LOC121048736 +114 more	Deletion	Chromosome 3q29 microdeletion syndrome	GPathogenic
Select item 59686	GRCh38/hg38 3q29(chr3:195896948-198110178)x3	BDH1, CEP19 +155 more	Copy number gain	See cases	GUncertain significance
Select item 545293	Single allele	LOC123464499, LOC123464500 +114 more	Duplication	Autism	GLikely pathogenic
Select item 2499658	GRCh38/hg38 3q29(chr3:195950438-197629463)	FBXO45, LOC129938278 +113 more	Copy number loss	See cases	GPathogenic
Select item 149940	GRCh38/hg38 3q29(chr3:195955711-197597912)x1	BDH1, CEP19 +111 more	Copy number loss	See cases	GPathogenic
Select item 155422	GRCh38/hg38 3q29(chr3:195963356-197629463)x3	BDH1, CEP19 +110 more	Copy number gain	See cases	GUncertain significance
Select item 59982	GRCh38/hg38 3q29(chr3:195965316-197625573)x3	BDH1, CEP19 +109 more	Copy number gain	See cases	GPathogenic
Select item 59983	GRCh38/hg38 3q29(chr3:195972720-197658495)x3	BDH1, CEP19 +113 more	Copy number gain	See cases	GPathogenic
Select item 148628	GRCh38/hg38 3q29(chr3:195974291-197597912)x1	LOC112935924, LOC115995537 +109 more	Copy number loss	See cases	GPathogenic
Select item 153972	GRCh38/hg38 3q29(chr3:195976744-197629463)x1	BDH1, CEP19 +110 more	Copy number loss	See cases	GPathogenic
Select item 545294	NC_000003.12:g.(?_195990063)_(197617301_?)del	BDH1, CEP19 +108 more	Deletion	Schizophrenia	GPathogenic
Select item 59984	GRCh38/hg38 3q29(chr3:195997494-197662231)x3	BDH1, CEP19 +111 more	Copy number gain	See cases	GPathogenic
Select item 153314	GRCh38/hg38 3q29(chr3:195998419-197629463)x3	BDH1, CEP19 +108 more	Copy number gain	See cases	Gconflicting data from submitters
Select item 160933	GRCh38/hg38 3q29(chr3:196013486-197590232)x3	BDH1, CEP19 +107 more	Copy number gain	See cases	GPathogenic
Select item 160885	GRCh38/hg38 3q29(chr3:196013486-197590232)x1	LINC00885, LOC126806932 +107 more	Copy number loss	See cases	GPathogenic
Select item 154986	GRCh38/hg38 3q29(chr3:196013486-197597912)x1	BDH1, CEP19 +107 more	Copy number loss	See cases	GPathogenic
Select item 152467	GRCh38/hg38 3q29(chr3:196013486-197612399)x1	BDH1, CEP19 +107 more	Copy number loss	See cases	GPathogenic
Select item 57328	GRCh38/hg38 3q29(chr3:196013486-197503306)x3	CEP19, DLG1 +102 more	Copy number gain	See cases	GPathogenic
Select item 34369	GRCh38/hg38 3q29(chr3:196013486-197590232)x1	BDH1, CEP19 +107 more	Copy number loss	See cases	GPathogenic
Select item 149576	GRCh38/hg38 3q29(chr3:196013531-197590232)x1	LOC105374308, LOC126806932 +107 more	Copy number loss	See cases	GPathogenic
Select item 59986	GRCh38/hg38 3q29(chr3:196035777-197662231)x3	BDH1, CEP19 +111 more	Copy number gain	See cases	GPathogenic
Select item 59985	GRCh38/hg38 3q29(chr3:196035777-197606438)x3	BDH1, CEP19 +107 more	Copy number gain	See cases	GPathogenic
Select item 59289	GRCh38/hg38 3q29(chr3:196035777-197625573)x1	BDH1, CEP19 +107 more	Copy number loss	See cases	GPathogenic
Select item 59288	GRCh38/hg38 3q29(chr3:196035777-197658540)x1	BDH1, CEP19 +111 more	Copy number loss	See cases	GPathogenic
Select item 57492	GRCh38/hg38 3q29(chr3:196077857-197165715)x1	CEP19, DLG1 +89 more	Copy number loss	See cases	GPathogenic
Select item 545295	NC_000003.12:g.(?_196154147)_(197376501_?)del	CEP19, DLG1 +85 more	Deletion	Schizophrenia	GPathogenic
Select item 153416	GRCh38/hg38 3q29(chr3:196418334-198125115)x3	BDH1, CEP19 +102 more	Copy number gain	See cases	GUncertain significance
Select item 149972	GRCh38/hg38 3q29(chr3:196812829-197938552)x3	BDH1, DLG1 +62 more	Copy number gain	See cases	GUncertain significance
Select item 152924	GRCh38/hg38 3q29(chr3:196832991-197182319)x3	DLG1, LOC121048736 +18 more	Copy number gain	See cases	GUncertain significance
Select item 152925	GRCh38/hg38 3q29(chr3:196841258-197590173)x3	BDH1, DLG1 +35 more	Copy number gain	See cases	GUncertain significance
Select item 2358548	NM_152699.5(SENP5):c.41A>C (p.His14Pro)	SENP5 (H14P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 787266	NM_152699.5(SENP5):c.141A>G (p.Pro47=)	SENP5	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2289714	NM_152699.5(SENP5):c.206C>T (p.Thr69Met)	SENP5 (T69M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 787267	NM_152699.5(SENP5):c.248A>G (p.Asn83Ser)	SENP5 (N83S)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2570473	NM_152699.5(SENP5):c.301G>A (p.Ala101Thr)	SENP5 (A101T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2589905	NM_152699.5(SENP5):c.335T>G (p.Leu112Arg)	SENP5 (L112R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2325909	NM_152699.5(SENP5):c.356T>C (p.Leu119Pro)	SENP5 (L119P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2316308	NM_152699.5(SENP5):c.437A>G (p.Asn146Ser)	SENP5 (N146S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2313170	NM_152699.5(SENP5):c.457A>C (p.Asn153His)	SENP5 (N153H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2285518	NM_152699.5(SENP5):c.482C>T (p.Pro161Leu)	SENP5 (P161L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2607855	NM_152699.5(SENP5):c.502A>T (p.Met168Leu)	SENP5 (M168L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2345716	NM_152699.5(SENP5):c.512A>G (p.Asn171Ser)	SENP5 (N171S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2518751	NM_152699.5(SENP5):c.592G>A (p.Gly198Ser)	SENP5 (G198S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2493828	NM_152699.5(SENP5):c.625G>C (p.Gly209Arg)	SENP5 (G209R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2380101	NM_152699.5(SENP5):c.847G>A (p.Gly283Ser)	SENP5 (G283S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2324500	NM_152699.5(SENP5):c.889A>G (p.Lys297Glu)	SENP5 (K297E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2515399	NM_152699.5(SENP5):c.904C>T (p.Arg302Trp)	SENP5 (R302W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2330364	NM_152699.5(SENP5):c.904C>G (p.Arg302Gly)	SENP5 (R302G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2362591	NM_152699.5(SENP5):c.977G>C (p.Cys326Ser)	SENP5 (C326S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2227903	NM_152699.5(SENP5):c.992G>A (p.Ser331Asn)	SENP5 (S331N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 777589	NM_152699.5(SENP5):c.1049G>A (p.Gly350Asp)	SENP5 (G350D)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2278630	NM_152699.5(SENP5):c.1138C>T (p.His380Tyr)	SENP5 (H380Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2251747	NM_152699.5(SENP5):c.1153A>G (p.Met385Val)	SENP5 (M385V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2249683	NM_152699.5(SENP5):c.1163C>T (p.Ser388Leu)	SENP5 (S388L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2324499	NM_152699.5(SENP5):c.1207A>T (p.Thr403Ser)	SENP5 (T403S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2388835	NM_152699.5(SENP5):c.1264G>A (p.Val422Met)	SENP5 (V422M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2565169	NM_152699.5(SENP5):c.1265T>G (p.Val422Gly)	SENP5 (V422G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2246550	NM_152699.5(SENP5):c.1296G>C (p.Lys432Asn)	SENP5 (K432N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2517946	NM_152699.5(SENP5):c.1381C>G (p.Pro461Ala)	SENP5 (P461A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2314933	NM_152699.5(SENP5):c.1583G>A (p.Arg528Lys)	SENP5 (R528K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2407662	NM_152699.5(SENP5):c.2121G>C (p.Gln707His)	SENP5 (Q707H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2394639	NM_152699.5(SENP5):c.2125A>C (p.Asn709His)	SENP5 (N663H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 710922	NM_152699.5(SENP5):c.2158-8T>C	SENP5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3062702	GRCh37/hg19 3q29(chr3:196657995-197656512)x1	BDH1, DLG1 +8 more	Copy number loss	not specified	GUncertain significance
Select item 2685951	GRCh37/hg19 3q29(chr3:196190723-197605588)x3	BDH1, CEP19 +15 more	Copy number gain	not provided	GPathogenic
Select item 2671619	Single allele	ABCC5, ABCF3 +145 more	Duplication	not provided	GPathogenic
Select item 2671595	Single allele	AADAC, AADACL2 +286 more	Duplication	not provided	GPathogenic
Select item 2445506	NC_000003.11:g.(?_195591052)_(197682644_?)dup	PIGX, SENP5 +26 more	Duplication	not provided	GUncertain significance
Select item 1808944	GRCh37/hg19 3q29(chr3:196519209-196651853)x3	PAK2, SENP5	Copy number gain	not provided	GUncertain significance
Select item 1808666	GRCh37/hg19 3q29(chr3:195690228-197356334)x1	BDH1, CEP19 +19 more	Copy number loss	not provided	GPathogenic
Select item 1707630	GRCh37/hg19 3q26.31-29(chr3:171558472-197871052)x3	CCDC50, MELTF +155 more	Copy number gain	Isolated anorectal malformation	GLikely pathogenic
Select item 1707428	GRCh37/hg19 3q27.1-29(chr3:183498520-197851986)x3	ABCC5, ABCF3 +118 more	Copy number gain	See cases	GPathogenic
Select item 1703655	GRCh37/hg19 3q29(chr3:195703615-197386180)	BDH1, CEP19 +19 more	Copy number loss	Chromosome 3q29 microdeletion syndrome	GPathogenic
Select item 1340993	GRCh37/hg19 3q29(chr3:196517809-196651853)x3	PAK2, SENP5	Copy number gain	not provided	GLikely benign
Select item 1340723	GRCh37/hg19 3q29(chr3:195914129-196804639)x1	CEP19, DLG1 +17 more	Copy number loss	not provided	GPathogenic
Select item 1340518	GRCh37/hg19 3q29(chr3:195993691-197851986)x3	BDH1, CEP19 +22 more	Copy number gain	not provided	GUncertain significance
Select item 1330171	GRCh37/hg19 3q29(chr3:194790394-197961930)x3	ACAP2, APOD +35 more	Copy number gain	Chromosome 3q29 microdeletion syndrome	GUncertain significance
Select item 1328450	GRCh37/hg19 3q28-29(chr3:191866466-197842171)x1	ACAP2, APOD +48 more	Copy number loss	not provided	GPathogenic
Select item 1326307	GRCh37/hg19 3q28-29(chr3:189608636-197532175)x1	OPA1, OSTN +56 more	Copy number loss	3q28q29 deletion syndrome	GPathogenic

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