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80 records found for search term Ehmt2
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RGD IDSymbolVariant TypeNameTraitClinical SignificanceChrStartStopSpeciesAnnotationsMatch
15186202CV775280single nucleotide variantNM_006709.5(EHMT2):c.865-7C>Tnot provided [RCV000931285]likely benign63188960931889609Humanname
150494052CV1226083single nucleotide variantNM_006709.5(EHMT2):c.329-11C>Tnot provided [RCV001619301]benign63189652731896527Humanname
405718229CV3241916single nucleotide variantNM_006709.5(EHMT2):c.49G>C (p.Ala17Pro)not specified [RCV004377653]uncertain significance63189698331896983Humanname
597746505CV3674329single nucleotide variantNM_006709.5(EHMT2):c.95G>A (p.Gly32Glu)not specified [RCV004922708]uncertain significance63189693731896937Humanname
15192583CV721959single nucleotide variantNM_006709.5(EHMT2):c.792G>A (p.Thr264=)not provided [RCV000888702]benign63189247931892479Humanname
15184019CV765630single nucleotide variantNM_006709.5(EHMT2):c.768C>T (p.Pro256=)not provided [RCV000930715]benign63189250331892503Humanname
150490352CV1267596single nucleotide variantNM_006709.5(EHMT2):c.1437G>A (p.Val479=)not provided [RCV001687620]benign63188843531888435Humanname
401756958CV2678153single nucleotide variantNM_006709.5(EHMT2):c.169G>A (p.Asp57Asn)not specified [RCV004296662]uncertain significance63189676531896765Humanname
401920508CV2822903single nucleotide variantNM_006709.5(EHMT2):c.2961C>T (p.Cys987=)not provided [RCV003431772]likely benign63188339531883395Humanname
405718133CV3241907single nucleotide variantNM_006709.5(EHMT2):c.160G>C (p.Ala54Pro)not specified [RCV004377644]uncertain significance63189677431896774Humanname
407498704CV3438048single nucleotide variantNM_006709.5(EHMT2):c.127G>T (p.Asp43Tyr)not specified [RCV004622535]uncertain significance63189680731896807Humanname
15114627CV710423single nucleotide variantNM_006709.5(EHMT2):c.2877G>A (p.Thr959=)not provided [RCV000961709]benign63188384531883845Humanname
15136834CV735599single nucleotide variantNM_006709.5(EHMT2):c.1878G>T (p.Gly626=)not provided [RCV000898696]benign63188782931887829Humanname
15184014CV765627single nucleotide variantNM_006709.5(EHMT2):c.1485G>C (p.Pro495=)not provided [RCV000930714]likely benign63188838731888387Humanname
15100349CV765628single nucleotide variantNM_006709.5(EHMT2):c.1329G>C (p.Gly443=)not provided [RCV000936620]likely benign63188863531888635Humanname
15100357CV765629single nucleotide variantNM_006709.5(EHMT2):c.1212C>T (p.His404=)not provided [RCV000936621]likely benign63188897331888973Humanname
156208789CV2304365single nucleotide variantNM_006709.5(EHMT2):c.733C>T (p.Arg245Cys)not specified [RCV004164476]uncertain significance63189253831892538Humanname
156279878CV2315929single nucleotide variantNM_006709.5(EHMT2):c.396G>A (p.Met132Ile)not specified [RCV004172007]uncertain significance63189644931896449Humanname
156284058CV2334732single nucleotide variantNM_006709.5(EHMT2):c.458G>C (p.Ser153Thr)not specified [RCV004188711]uncertain significance63189638731896387Humanname
156055006CV2344679single nucleotide variantNM_006709.5(EHMT2):c.847G>A (p.Val283Met)not specified [RCV004197446]uncertain significance63189242431892424Humanname
401774562CV2713545single nucleotide variantNM_006709.5(EHMT2):c.559A>G (p.Met187Val)not specified [RCV004319138]uncertain significance63189628631896286Humanname
405718237CV3241917single nucleotide variantNM_006709.5(EHMT2):c.515C>T (p.Thr172Met)not specified [RCV004377654]uncertain significance63189633031896330Humanname
405718245CV3241918single nucleotide variantNM_006709.5(EHMT2):c.587C>T (p.Pro196Leu)not specified [RCV004377655]uncertain significance63189290631892906Humanname
405718254CV3241919single nucleotide variantNM_006709.5(EHMT2):c.730C>T (p.Arg244Trp)not specified [RCV004377656]uncertain significance63189254131892541Humanname
407498707CV3438049single nucleotide variantNM_006709.5(EHMT2):c.662C>A (p.Thr221Asn)not specified [RCV004622536]uncertain significance63189283131892831Humanname
597663884CV3674322single nucleotide variantNM_006709.5(EHMT2):c.751C>G (p.Leu251Val)not specified [RCV004912232]uncertain significance63189252031892520Humanname
598178601CV3961260single nucleotide variantNM_006709.5(EHMT2):c.526G>C (p.Gly176Arg)not specified [RCV005332362]uncertain significance63189631931896319Humanname
598178614CV3961262single nucleotide variantNM_006709.5(EHMT2):c.545G>C (p.Arg182Pro)not specified [RCV005332364]uncertain significance63189630031896300Humanname
598178622CV3961263single nucleotide variantNM_006709.5(EHMT2):c.422C>T (p.Pro141Leu)not specified [RCV005332365]uncertain significance63189642331896423Humanname
598178630CV3961264single nucleotide variantNM_006709.5(EHMT2):c.836T>C (p.Val279Ala)not specified [RCV005332366]uncertain significance63189243531892435Humanname
598178656CV3961268single nucleotide variantNM_006709.5(EHMT2):c.3060G>A (p.Ala1020=)not specified [RCV005332370]likely benign63188294431882944Humanname
15178029CV710424single nucleotide variantNM_006709.5(EHMT2):c.301G>A (p.Asp101Asn)not provided [RCV000973566]benign63189663331896633Humanname
156400523CV2199239single nucleotide variantNM_006709.5(EHMT2):c.2201C>T (p.Ala734Val)not specified [RCV004082599]uncertain significance63188681531886815Humanname
156330942CV2210731single nucleotide variantNM_006709.5(EHMT2):c.2018A>G (p.Asn673Ser)not specified [RCV004085829]uncertain significance63188709531887095Humanname
155946376CV2238115single nucleotide variantNM_006709.5(EHMT2):c.2452G>A (p.Glu818Lys)not specified [RCV004111130]uncertain significance63188479631884796Humanname
155915774CV2239559single nucleotide variantNM_006709.5(EHMT2):c.1763A>T (p.His588Leu)not specified [RCV004114555]uncertain significance63188794431887944Humanname
155914132CV2242618single nucleotide variantNM_006709.5(EHMT2):c.1460G>A (p.Arg487His)not specified [RCV004113677]uncertain significance63188841231888412Humanname
155921328CV2276286single nucleotide variantNM_006709.5(EHMT2):c.1456G>A (p.Ala486Thr)not specified [RCV004144042]uncertain significance63188841631888416Humanname
156171992CV2326749single nucleotide variantNM_006709.5(EHMT2):c.2735G>A (p.Gly912Glu)not specified [RCV004176593]uncertain significance63188442831884428Humanname
156077526CV2351046single nucleotide variantNM_006709.5(EHMT2):c.1198C>T (p.Leu400Phe)not specified [RCV004211868]uncertain significance63188898731888987Humanname
156286145CV2360879single nucleotide variantNM_006709.5(EHMT2):c.2719C>A (p.Leu907Ile)not specified [RCV004213649]uncertain significance63188444431884444Humanname
156053189CV2360980single nucleotide variantNM_006709.5(EHMT2):c.1675G>A (p.Gly559Ser)not specified [RCV004216178]uncertain significance63188811131888111Humanname
155928165CV2361872single nucleotide variantNM_006709.5(EHMT2):c.2159C>T (p.Thr720Met)not specified [RCV004207647]uncertain significance63188685731886857Humanname
156251014CV2368698single nucleotide variantNM_006709.5(EHMT2):c.1505C>T (p.Thr502Met)not specified [RCV004214589]uncertain significance63188836731888367Humanname
155931892CV2399922single nucleotide variantNM_006709.5(EHMT2):c.1732A>G (p.Thr578Ala)not specified [RCV004246861]uncertain significance63188805431888054Humanname
329398875CV2443046single nucleotide variantNM_006709.5(EHMT2):c.1649G>A (p.Arg550Gln)not specified [RCV004253634]uncertain significance63188813731888137Humanname
329365430CV2444864single nucleotide variantNM_006709.5(EHMT2):c.1778G>A (p.Arg593His)not specified [RCV004259101]uncertain significance63188792931887929Humanname
329371517CV2458154single nucleotide variantNM_006709.5(EHMT2):c.2207A>G (p.Tyr736Cys)not specified [RCV004271962]uncertain significance63188680931886809Humanname
401755123CV2682387single nucleotide variantNM_006709.5(EHMT2):c.1085G>A (p.Arg362Gln)not specified [RCV004290417]uncertain significance63188925731889257Humanname
401729295CV2683633single nucleotide variantNM_006709.5(EHMT2):c.2419C>T (p.Arg807Trp)not specified [RCV004282552]uncertain significance63188494131884941Humanname
401894300CV2780637single nucleotide variantNM_006709.5(EHMT2):c.1192G>T (p.Gly398Trp)not specified [RCV004351990]uncertain significance63188899331888993Humanname
401868233CV2784804single nucleotide variantNM_006709.5(EHMT2):c.2519C>T (p.Ala840Val)not specified [RCV004352594]uncertain significance63188472931884729Humanname
405718124CV3241906single nucleotide variantNM_006709.5(EHMT2):c.1075C>T (p.Arg359Trp)not specified [RCV004377643]uncertain significance63188926731889267Humanname
405718143CV3241908single nucleotide variantNM_006709.5(EHMT2):c.1847G>T (p.Gly616Val)not specified [RCV004377645]uncertain significance63188786031887860Humanname
405718156CV3241909single nucleotide variantNM_006709.5(EHMT2):c.1948C>T (p.His650Tyr)not specified [RCV004377646]uncertain significance63188764031887640Humanname
405718177CV3241911single nucleotide variantNM_006709.5(EHMT2):c.2209A>G (p.Met737Val)not specified [RCV004377648]uncertain significance63188680731886807Humanname
405718187CV3241912single nucleotide variantNM_006709.5(EHMT2):c.2534A>G (p.His845Arg)not specified [RCV004377649]uncertain significance63188471431884714Humanname
405718198CV3241913single nucleotide variantNM_006709.5(EHMT2):c.2681G>A (p.Arg894His)not specified [RCV004377650]uncertain significance63188448231884482Humanname
405718206CV3241914single nucleotide variantNM_006709.5(EHMT2):c.2897G>T (p.Arg966Leu)not specified [RCV004377651]uncertain significance63188382531883825Humanname
407498700CV3438047single nucleotide variantNM_006709.5(EHMT2):c.1397G>A (p.Arg466Gln)not specified [RCV004622534]uncertain significance63188847531888475Humanname
407498710CV3438050single nucleotide variantNM_006709.5(EHMT2):c.1426G>C (p.Ala476Pro)not specified [RCV004622537]uncertain significance63188844631888446Humanname
407498713CV3438051single nucleotide variantNM_006709.5(EHMT2):c.2906C>G (p.Thr969Ser)not specified [RCV004622538]uncertain significance63188381631883816Humanname
597663860CV3674319single nucleotide variantNM_006709.5(EHMT2):c.1541G>A (p.Arg514His)not specified [RCV004912229]uncertain significance63188824531888245Humanname
597663868CV3674320single nucleotide variantNM_006709.5(EHMT2):c.1727C>T (p.Ala576Val)not specified [RCV004912230]uncertain significance63188805931888059Humanname
597663876CV3674321single nucleotide variantNM_006709.5(EHMT2):c.1421G>A (p.Arg474His)not specified [RCV004912231]uncertain significance63188845131888451Humanname
597663892CV3674323single nucleotide variantNM_006709.5(EHMT2):c.2642A>G (p.Asn881Ser)not specified [RCV004912233]uncertain significance63188452131884521Humanname
597663902CV3674324single nucleotide variantNM_006709.5(EHMT2):c.1350G>C (p.Glu450Asp)not specified [RCV004912234]uncertain significance63188861431888614Humanname
597663909CV3674325single nucleotide variantNM_006709.5(EHMT2):c.2204G>A (p.Arg735His)not specified [RCV004912235]uncertain significance63188681231886812Humanname
597663928CV3674328single nucleotide variantNM_006709.5(EHMT2):c.1787G>A (p.Cys596Tyr)not specified [RCV004912237]uncertain significance63188792031887920Humanname
598178608CV3961261single nucleotide variantNM_006709.5(EHMT2):c.1351A>C (p.Ser451Arg)not specified [RCV005332363]uncertain significance63188861331888613Humanname
598178635CV3961265single nucleotide variantNM_006709.5(EHMT2):c.1774C>T (p.Arg592Trp)not specified [RCV005332367]uncertain significance63188793331887933Humanname
598178644CV3961266single nucleotide variantNM_006709.5(EHMT2):c.2743G>A (p.Ala915Thr)not specified [RCV005332368]uncertain significance63188442031884420Humanname
156279867CV2315928single nucleotide variantNM_006709.5(EHMT2):c.3142A>T (p.Met1048Leu)not specified [RCV004172006]uncertain significance63188275431882754Humanname
401965377CV2848767single nucleotide variantNM_006709.5(EHMT2):c.3229G>T (p.Ala1077Ser)Kleefstra-like syndrome [RCV003484975]pathogenic63188106131881061Humanname
405718217CV3241915single nucleotide variantNM_006709.5(EHMT2):c.3346G>A (p.Asp1116Asn)not specified [RCV004377652]uncertain significance63188077931880779Humanname
407498716CV3438052single nucleotide variantNM_006709.5(EHMT2):c.3560G>A (p.Ser1187Asn)not specified [RCV004622539]uncertain significance63188015731880157Humanname
597746500CV3674326single nucleotide variantNM_006709.5(EHMT2):c.3611C>T (p.Ser1204Phe)not specified [RCV004922707]uncertain significance63188010631880106Humanname
597663919CV3674327single nucleotide variantNM_006709.5(EHMT2):c.3364G>A (p.Val1122Ile)not specified [RCV004912236]uncertain significance63188076131880761Humanname
597663937CV3674330single nucleotide variantNM_006709.5(EHMT2):c.3281G>A (p.Gly1094Glu)not specified [RCV004912238]uncertain significance63188084431880844Humanname
596947906CV3547495deletionNM_006709.5(EHMT2):c.1735_1737del (p.Ser579del)not provided [RCV004811799]likely benign63188804931888051Humanname