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Pathways
Variants search result for Homo sapiens
(View Results for all Objects and Ontologies)


60 records found for search term Sv2b
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RGD IDSymbolVariant TypeNameTraitClinical SignificanceChrStartStopSpeciesAnnotationsMatch
8627728CV82872single nucleotide variantNM_014848.4(SV2B):c.172G>A (p.Asp58Asn)Malignant melanoma [RCV000062952]not provided159122643591226435Humanname
8635643CV90865single nucleotide variantNM_014848.4(SV2B):c.206C>T (p.Ser69Phe)Malignant melanoma [RCV000070963]not provided159122646991226469Humanname
8627729CV82873single nucleotide variantNM_001167580.1(SV2B):c.234G>A (p.Arg78=)Malignant melanoma [RCV000062953]not provided159125242391252423Humanname
156023326CV2223463single nucleotide variantNM_001323032.3(SV2B):c.85G>C (p.Glu29Gln)not specified [RCV004106037]uncertain significance159122634891226348Humanname
405707513CV3323847single nucleotide variantNM_001323032.3(SV2B):c.40G>A (p.Ala14Thr)not specified [RCV004461277]uncertain significance159122630391226303Humanname
405707523CV3323848single nucleotide variantNM_001323032.3(SV2B):c.61C>T (p.Arg21Cys)not specified [RCV004461278]uncertain significance159122632491226324Humanname
405707531CV3323849single nucleotide variantNM_001323032.3(SV2B):c.62G>A (p.Arg21His)not specified [RCV004461279]uncertain significance159122632591226325Humanname
405707538CV3323850single nucleotide variantNM_001323032.3(SV2B):c.68A>G (p.Asn23Ser)not specified [RCV004461280]uncertain significance159122633191226331Humanname
407530227CV3481981single nucleotide variantNM_001323032.3(SV2B):c.32G>C (p.Gly11Ala)not specified [RCV004681774]uncertain significance159122629591226295Humanname
598222390CV3912617single nucleotide variantNM_001323032.3(SV2B):c.41C>T (p.Ala14Val)not specified [RCV005293788]uncertain significance159122630491226304Humanname
150438198CV1264790single nucleotide variantNM_001323032.3(SV2B):c.1287G>A (p.Val429=)not provided [RCV001678783]benign159126851991268519Human2name
150438198CV1264790single nucleotide variantNM_001323032.3(SV2B):c.1287G>A (p.Val429=)not provided [RCV001678783]benign159126851991268520Human2name
156183931CV2239079single nucleotide variantNM_001323032.3(SV2B):c.270G>C (p.Gln90His)not specified [RCV004112084]uncertain significance159122653391226533Humanname
156340245CV2268085single nucleotide variantNM_001323032.3(SV2B):c.133A>G (p.Ile45Val)not specified [RCV004138414]uncertain significance159122639691226396Humanname
156169279CV2345534single nucleotide variantNM_001323032.3(SV2B):c.157A>G (p.Ile53Val)not specified [RCV004198295]uncertain significance159122642091226420Humanname
401896039CV2777300single nucleotide variantNM_001323032.3(SV2B):c.237C>A (p.Asp79Glu)not specified [RCV004354315]uncertain significance159122650091226500Humanname
407504967CV3481984single nucleotide variantNM_001323032.3(SV2B):c.155G>A (p.Gly52Asp)not specified [RCV004670726]uncertain significance159122641891226418Humanname
597769732CV3608825single nucleotide variantNM_001323032.3(SV2B):c.109G>A (p.Glu37Lys)not specified [RCV004871310]uncertain significance159122637291226372Humanname
156221854CV2208860single nucleotide variantNM_001323032.3(SV2B):c.755C>T (p.Ala252Val)not specified [RCV004085238]uncertain significance159125249191252491Humanname
156331071CV2224364single nucleotide variantNM_001323032.3(SV2B):c.316C>T (p.Arg106Cys)not specified [RCV004097706]uncertain significance159122657991226579Humanname
156251354CV2273397single nucleotide variantNM_001323032.3(SV2B):c.347G>A (p.Gly116Asp)not specified [RCV004132163]uncertain significance159122661091226610Humanname
155991792CV2276633single nucleotide variantNM_001323032.3(SV2B):c.538A>T (p.Met180Leu)not specified [RCV004146113]uncertain significance159125190591251905Humanname
156062399CV2351411single nucleotide variantNM_001323032.3(SV2B):c.635T>C (p.Ile212Thr)not specified [RCV004193100]uncertain significance159125237191252371Humanname
155930992CV2399761single nucleotide variantNM_001323032.3(SV2B):c.685C>T (p.Arg229Trp)not specified [RCV004245575]uncertain significance159125242191252421Humanname
329351737CV2459348single nucleotide variantNM_001323032.3(SV2B):c.340G>A (p.Val114Ile)not specified [RCV004274758]uncertain significance159122660391226603Humanname
401759582CV2687377single nucleotide variantNM_001323032.3(SV2B):c.550G>A (p.Val184Ile)not specified [RCV004298630]likely benign159125191791251917Humanname
401864479CV2781780single nucleotide variantNM_001323032.3(SV2B):c.814C>T (p.His272Tyr)not specified [RCV004356743]uncertain significance159125845091258450Humanname
405707543CV3323851single nucleotide variantNM_001323032.3(SV2B):c.821A>G (p.His274Arg)not specified [RCV004461281]uncertain significance159125845791258457Humanname
407504958CV3481979single nucleotide variantNM_001323032.3(SV2B):c.779A>G (p.His260Arg)not specified [RCV004670723]uncertain significance159125251591252515Humanname
407504962CV3481982single nucleotide variantNM_001323032.3(SV2B):c.337T>C (p.Phe113Leu)not specified [RCV004670724]uncertain significance159122660091226600Humanname
597769723CV3608823single nucleotide variantNM_001323032.3(SV2B):c.682T>A (p.Ser228Thr)not specified [RCV004871308]uncertain significance159125241891252418Humanname
598222378CV3912614single nucleotide variantNM_001323032.3(SV2B):c.967A>G (p.Thr323Ala)not specified [RCV005293786]uncertain significance159126036891260368Humanname
598222385CV3912616single nucleotide variantNM_001323032.3(SV2B):c.758T>C (p.Met253Thr)not specified [RCV005293787]uncertain significance159125249491252494Humanname
9686863CV171566single nucleotide variantNM_001323032.3(SV2B):c.1537C>T (p.Arg513Trp)Prostate cancer [RCV000149081]uncertain significance159128405091284050Human2name
156147928CV2196993single nucleotide variantNM_001323032.3(SV2B):c.1484A>C (p.Glu495Ala)not specified [RCV004071448]uncertain significance159128183891281838Humanname
155961207CV2285497single nucleotide variantNM_001323032.3(SV2B):c.1870G>A (p.Ala624Thr)not specified [RCV004139346]uncertain significance159129237091292370Humanname
155931470CV2293526single nucleotide variantNM_001323032.3(SV2B):c.1774A>G (p.Met592Val)not specified [RCV004153059]uncertain significance159128958691289586Humanname
156240105CV2302530single nucleotide variantNM_001323032.3(SV2B):c.1603G>A (p.Asp535Asn)not specified [RCV004161250]uncertain significance159128411691284116Humanname
156122483CV2354332single nucleotide variantNM_001323032.3(SV2B):c.1742T>G (p.Phe581Cys)not specified [RCV004206749]uncertain significance159128955491289554Humanname
155938226CV2380643single nucleotide variantNM_001323032.3(SV2B):c.1804A>T (p.Thr602Ser)not specified [RCV004218232]uncertain significance159128961691289616Humanname
156089551CV2392087single nucleotide variantNM_001323032.3(SV2B):c.1144G>A (p.Val382Met)not specified [RCV004237982]uncertain significance159126757991267579Humanname
156229079CV2400183single nucleotide variantNM_001323032.3(SV2B):c.1780G>A (p.Gly594Ser)not specified [RCV004242980]uncertain significance159128959291289592Humanname
329400468CV2438363single nucleotide variantNM_001323032.3(SV2B):c.1342A>G (p.Ile448Val)not specified [RCV004259525]uncertain significance159126857491268574Humanname
329385318CV2451229single nucleotide variantNM_001323032.3(SV2B):c.1153C>A (p.Pro385Thr)not specified [RCV004270142]uncertain significance159126758891267588Humanname
401899758CV2762171single nucleotide variantNM_001323032.3(SV2B):c.1141T>A (p.Cys381Ser)not specified [RCV004341984]uncertain significance159126757691267576Humanname
401888187CV2788101single nucleotide variantNM_001323032.3(SV2B):c.1148T>C (p.Met383Thr)not specified [RCV004352730]uncertain significance159126758391267583Humanname
405285725CV3191874single nucleotide variantNM_001323032.3(SV2B):c.1085G>A (p.Arg362His)SV2B-related disorder [RCV003923822]likely benign159126665891266658Humanname , trait , alternate_id
405707494CV3323845single nucleotide variantNM_001323032.3(SV2B):c.1067C>T (p.Thr356Ile)not specified [RCV004461275]uncertain significance159126664091266640Humanname
405707503CV3323846single nucleotide variantNM_001323032.3(SV2B):c.1190G>C (p.Trp397Ser)not specified [RCV004461276]uncertain significance159126762591267625Humanname
407504954CV3481978single nucleotide variantNM_001323032.3(SV2B):c.1598A>C (p.Asp533Ala)not specified [RCV004670722]uncertain significance159128411191284111Humanname
407530226CV3481980single nucleotide variantNM_001323032.3(SV2B):c.1912G>A (p.Ala638Thr)not specified [RCV004681773]uncertain significance159129241291292412Humanname
407504965CV3481983single nucleotide variantNM_001323032.3(SV2B):c.1309G>A (p.Gly437Ser)not specified [RCV004670725]uncertain significance159126854191268541Humanname
407504971CV3481985single nucleotide variantNM_001323032.3(SV2B):c.1312G>T (p.Ala438Ser)not specified [RCV004670727]uncertain significance159126854491268544Humanname
597769708CV3608820single nucleotide variantNM_001323032.3(SV2B):c.1779C>G (p.Ile593Met)not specified [RCV004871305]uncertain significance159128959191289591Humanname
597769713CV3608821single nucleotide variantNM_001323032.3(SV2B):c.1157A>G (p.Tyr386Cys)not specified [RCV004871306]uncertain significance159126759291267592Humanname
597769718CV3608822single nucleotide variantNM_001323032.3(SV2B):c.2018G>T (p.Arg673Leu)not specified [RCV004871307]uncertain significance159129251891292518Humanname
597769727CV3608824single nucleotide variantNM_001323032.3(SV2B):c.1198A>G (p.Met400Val)not specified [RCV004871309]uncertain significance159126763391267633Humanname
597769737CV3608827single nucleotide variantNM_001323032.3(SV2B):c.1073C>T (p.Thr358Ile)not specified [RCV004871311]uncertain significance159126664691266646Humanname
598263638CV3912615single nucleotide variantNM_001323032.3(SV2B):c.1519C>T (p.His507Tyr)not specified [RCV005280567]uncertain significance159128403291284032Humanname
598263642CV3912619single nucleotide variantNM_001323032.3(SV2B):c.1543A>C (p.Ile515Leu)not specified [RCV005280568]uncertain significance159128405691284056Humanname