ClinVar for Gene (Select 205564) - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Links from Gene

Items: 1 to 100 of 148

<< First< Prev

Page of 2

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3317440	NM_152699.5(SENP5):c.395G>C (p.Arg132Thr)	SENP5 (R132T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3317439	NM_152699.5(SENP5):c.1136A>G (p.Glu379Gly)	SENP5 (E379G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3317438	NM_152699.5(SENP5):c.814A>G (p.Thr272Ala)	SENP5 (T272A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3242309	GRCh37/hg19 3q29(chr3:195106447-197846145)x3	ACAP2, APOD +33 more	Copy number gain	not provided	GPathogenic
Select item 3159968	NM_152699.5(SENP5):c.985A>C (p.Lys329Gln)	SENP5 (K329Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3159967	NM_152699.5(SENP5):c.768G>C (p.Lys256Asn)	SENP5 (K256N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3159966	NM_152699.5(SENP5):c.664C>T (p.His222Tyr)	SENP5 (H222Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3159965	NM_152699.5(SENP5):c.431C>A (p.Pro144Gln)	SENP5 (P144Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3159964	NM_152699.5(SENP5):c.2225A>G (p.Lys742Arg)	SENP5 (K696R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3159963	NM_152699.5(SENP5):c.1891T>G (p.Leu631Val)	SENP5 (L631V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3159962	NM_152699.5(SENP5):c.1724C>T (p.Ala575Val)	SENP5 (A575V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3148910	GRCh37/hg19 3q26.33-29(chr3:179313373-197851444)x3	ABCC5, ABCF3 +136 more	Copy number gain	See cases	GPathogenic
Select item 3148878	GRCh37/hg19 3q29(chr3:195739427-197340833)x1	BDH1, CEP19 +19 more	Copy number loss	not provided	GPathogenic
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	MUC20, MUC4 +286 more	Duplication	not provided	GPathogenic
Select item 2607855	NM_152699.5(SENP5):c.502A>T (p.Met168Leu)	SENP5 (M168L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2589905	NM_152699.5(SENP5):c.335T>G (p.Leu112Arg)	SENP5 (L112R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2570473	NM_152699.5(SENP5):c.301G>A (p.Ala101Thr)	SENP5 (A101T)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2565169	NM_152699.5(SENP5):c.1265T>G (p.Val422Gly)	SENP5 (V422G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2518751	NM_152699.5(SENP5):c.592G>A (p.Gly198Ser)	SENP5 (G198S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2517946	NM_152699.5(SENP5):c.1381C>G (p.Pro461Ala)	SENP5 (P461A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2515399	NM_152699.5(SENP5):c.904C>T (p.Arg302Trp)	SENP5 (R302W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2499658	GRCh38/hg38 3q29(chr3:195950438-197629463)	BDH1, CEP19 +113 more	Copy number loss	See cases	GPathogenic
Select item 2493828	NM_152699.5(SENP5):c.625G>C (p.Gly209Arg)	SENP5 (G209R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2445506	NC_000003.11:g.(?_195591052)_(197682644_?)dup	BDH1, CEP19 +26 more	Duplication	not provided	GUncertain significance
Select item 2407662	NM_152699.5(SENP5):c.2121G>C (p.Gln707His)	SENP5 (Q707H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2394639	NM_152699.5(SENP5):c.2125A>C (p.Asn709His)	SENP5 (N663H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2388835	NM_152699.5(SENP5):c.1264G>A (p.Val422Met)	SENP5 (V422M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2380101	NM_152699.5(SENP5):c.847G>A (p.Gly283Ser)	SENP5 (G283S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2362591	NM_152699.5(SENP5):c.977G>C (p.Cys326Ser)	SENP5 (C326S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2358548	NM_152699.5(SENP5):c.41A>C (p.His14Pro)	SENP5 (H14P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2345716	NM_152699.5(SENP5):c.512A>G (p.Asn171Ser)	SENP5 (N171S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2330364	NM_152699.5(SENP5):c.904C>G (p.Arg302Gly)	SENP5 (R302G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2325909	NM_152699.5(SENP5):c.356T>C (p.Leu119Pro)	SENP5 (L119P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2324500	NM_152699.5(SENP5):c.889A>G (p.Lys297Glu)	SENP5 (K297E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2324499	NM_152699.5(SENP5):c.1207A>T (p.Thr403Ser)	SENP5 (T403S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2316308	NM_152699.5(SENP5):c.437A>G (p.Asn146Ser)	SENP5 (N146S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2314933	NM_152699.5(SENP5):c.1583G>A (p.Arg528Lys)	SENP5 (R528K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2313170	NM_152699.5(SENP5):c.457A>C (p.Asn153His)	SENP5 (N153H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2289714	NM_152699.5(SENP5):c.206C>T (p.Thr69Met)	SENP5 (T69M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2285518	NM_152699.5(SENP5):c.482C>T (p.Pro161Leu)	SENP5 (P161L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2278630	NM_152699.5(SENP5):c.1138C>T (p.His380Tyr)	SENP5 (H380Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2251747	NM_152699.5(SENP5):c.1153A>G (p.Met385Val)	SENP5 (M385V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2249683	NM_152699.5(SENP5):c.1163C>T (p.Ser388Leu)	SENP5 (S388L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2246550	NM_152699.5(SENP5):c.1296G>C (p.Lys432Asn)	SENP5 (K432N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2227903	NM_152699.5(SENP5):c.992G>A (p.Ser331Asn)	SENP5 (S331N)	Single nucleotide variant (missense variant)	not specified	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 1679598	Single allele	SENP5, SLC51A +114 more	Deletion	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
Select item 1217224	GRCh37/hg19 3q29(chr3:196539700-196612739)x1	PAK2, SENP5	Copy number loss	del3q29	GUncertain significance
Select item 1172568	GRCh37/hg19 3q29(chr3:195693872-197376871)x3	BDH1, CEP19 +19 more	Copy number gain	See cases	Grisk factor
Select item 997056	GRCh37/hg19 3q29(chr3:195419168-197387258)	UBXN7, BDH1 +24 more	Copy number gain	Delayed speech and language development +1 more	GPathogenic
Select item 997046	GRCh37/hg19 3q29(chr3:195747856-197387258)	SENP5, SLC51A +19 more	Copy number gain	Motor delay +1 more	GPathogenic
Select item 980657	GRCh37/hg19 3q29(chr3:196552734-197498996)x3	RUBCN, BDH1 +7 more	Copy number gain	not provided	GUncertain significance
Select item 980655	GRCh37/hg19 3q29(chr3:195068028-197851986)x3	DLG1, PPP1R2 +33 more	Copy number gain	not provided	GPathogenic
Select item 973078	GRCh37/hg19 3q29(chr3:196381502-196771786)x3	CEP19, DLG1 +7 more	Copy number gain	not provided	Gnot provided
Select item 816511	GRCh37/hg19 3q29(chr3:195652973-197346971)x1	BDH1, WDR53 +19 more	Copy number loss	See cases	GPathogenic
Select item 814514	GRCh37/hg19 3q29(chr3:196592131-196919105)x3	PIGZ, MELTF +3 more	Copy number gain	not provided	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 787266	NM_152699.5(SENP5):c.141A>G (p.Pro47=)	SENP5	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 777589	NM_152699.5(SENP5):c.1049G>A (p.Gly350Asp)	SENP5 (G350D)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 710922	NM_152699.5(SENP5):c.2158-8T>C	SENP5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 686190	GRCh37/hg19 3q29(chr3:195700698-197386180)x3	BDH1, CEP19 +19 more	Copy number gain	not provided	GPathogenic
Select item 686054	GRCh37/hg19 3q29(chr3:195701149-197348561)x3	BDH1, CEP19 +19 more	Copy number gain	not provided	GPathogenic
Select item 685483	GRCh37/hg19 3q29(chr3:196596728-196634731)x1	SENP5	Copy number loss	not provided	GUncertain significance
Select item 638098	GRCh37/hg19 3q28-29(chr3:188386566-197838262)x3	GMNC, GP5 +62 more	Copy number gain	See cases	GPathogenic
Select item 562870	GRCh37/hg19 3q29(chr3:196586363-196952733)x3	PIGZ, MELTF +3 more	Copy number gain	not provided	GUncertain significance
Select item 562868	GRCh37/hg19 3q29(chr3:195725290-197356334)x3	RNF168, NRROS +19 more	Copy number gain	not provided	GPathogenic
Select item 562867	GRCh37/hg19 3q29(chr3:195725290-197339848)x3	DYNLT2B, MELTF +19 more	Copy number gain	not provided	GPathogenic
Select item 562866	GRCh37/hg19 3q29(chr3:195725290-197015654)x1	SLC51A, PCYT1A +18 more	Copy number loss	not provided	GPathogenic
Select item 562865	GRCh37/hg19 3q29(chr3:195703615-197356334)x3	CEP19, DLG1 +19 more	Copy number gain	not provided	GPathogenic
Select item 562864	GRCh37/hg19 3q29(chr3:195703615-197348575)x1	SENP5, SLC51A +19 more	Copy number loss	not provided	GPathogenic
Select item 562857	GRCh37/hg19 3q28-29(chr3:191593619-197851986)x3	MB21D2, MUC4 +48 more	Copy number gain	not provided	GPathogenic
Select item 562855	GRCh37/hg19 3q28-29(chr3:187913567-197851986)x3	TMEM44, GP5 +62 more	Copy number gain	not provided	GPathogenic
Select item 562852	GRCh37/hg19 3q27.3-29(chr3:186374365-197851986)x3	PCYT1A, TNK2-AS1 +77 more	Copy number gain	not provided	GPathogenic
Select item 562850	GRCh37/hg19 3q27.1-29(chr3:184003967-197851986)x3	FYTTD1, FAM43A +103 more	Copy number gain	not provided	GPathogenic
Select item 562847	GRCh37/hg19 3q26.33-29(chr3:182539234-197851986)x3	PPP1R2, TBCCD1 +126 more	Copy number gain	not provided	GPathogenic
Select item 545295	NC_000003.12:g.(?_196154147)_(197376501_?)del	CEP19, DLG1 +85 more	Deletion	Schizophrenia	GPathogenic
Select item 545294	NC_000003.12:g.(?_195990063)_(197617301_?)del	LOC123464504, LOC123464505 +108 more	Deletion	Schizophrenia	GPathogenic
Select item 545293	Single allele	LOC123464504, LOC129938307 +114 more	Duplication	Autism	GLikely pathogenic
Select item 443988	GRCh37/hg19 3q29(chr3:195690227-197356334)x1	BDH1, CEP19 +19 more	Copy number loss	See cases	GPathogenic
Select item 443479	GRCh37/hg19 3q29(chr3:195677309-197356334)x3	BDH1, CEP19 +19 more	Copy number gain	See cases	GUncertain significance
Select item 443234	GRCh37/hg19 3q29(chr3:195725290-197344176)x1	BDH1, CEP19 +19 more	Copy number loss	See cases	GPathogenic
Select item 442401	GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)x3	HHLA2, HIGD1A +1054 more	Copy number gain	See cases	GPathogenic
Select item 442400	GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)	A4GNT, AADAC +1054 more	Copy number gain	See cases	GPathogenic
Select item 442134	GRCh37/hg19 3q29(chr3:195456034-197356334)x3	BDH1, CEP19 +23 more	Copy number gain	See cases	GUncertain significance
Select item 394253	GRCh37/hg19 3q29(chr3:195780280-197299752)x1	BDH1, CEP19 +19 more	Copy number loss	See cases	GPathogenic
Select item 393885	GRCh37/hg19 3q25.32-29(chr3:158980631-197766890)x3	ABCC5, ABCF3 +198 more	Copy number gain	See cases	GPathogenic
Select item 267260	GRCh37/hg19 3q29(chr3:195756054-197344665)x1	DYNLT2B, FBXO45 +19 more	Copy number loss	Chromosome 3q29 microdeletion syndrome	GPathogenic

<< First< Prev

Page of 2