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


118 records found for search term Ss18
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RGD IDSymbolVariant TypeNameTraitClinical SignificanceChrStartStopSpeciesAnnotationsMatch
156191385CV2356853single nucleotide variantNM_001007559.3(SS18):c.86A>G (p.Asn29Ser)not specified [RCV004204231]uncertain significance182608756126087561Humanname
401857068CV2766146single nucleotide variantNM_001007559.3(SS18):c.56C>T (p.Ala19Val)not specified [RCV004340596]uncertain significance182609051426090514Humanname
156170433CV2273536single nucleotide variantNM_001007559.3(SS18):c.238A>T (p.Thr80Ser)not specified [RCV004134067]uncertain significance182605773626057736Humanname
598174008CV3922842single nucleotide variantNM_001007559.3(SS18):c.190A>G (p.Ile64Val)not specified [RCV005285284]uncertain significance182607811726078117Humanname
156272080CV2247290single nucleotide variantNM_001007559.3(SS18):c.877G>A (p.Asp293Asn)not specified [RCV004115064]uncertain significance182603855826038558Humanname
156062476CV2277211single nucleotide variantNM_001007559.3(SS18):c.594G>T (p.Met198Ile)not specified [RCV004142839]likely benign182605263726052637Humanname
156188494CV2292549single nucleotide variantNM_001007559.3(SS18):c.694A>G (p.Met232Val)not specified [RCV004150321]uncertain significance182603937026039370Humanname
329349766CV2432231single nucleotide variantNM_001007559.3(SS18):c.588G>A (p.Met196Ile)not specified [RCV004251161]uncertain significance182605264326052643Humanname
401744073CV2680651single nucleotide variantNM_001007559.3(SS18):c.696G>A (p.Met232Ile)not specified [RCV004291269]uncertain significance182603936826039368Humanname
401744231CV2691879single nucleotide variantNM_001007559.3(SS18):c.847C>T (p.Pro283Ser)not specified [RCV004299619]uncertain significance182603858826038588Humanname
401745778CV2707543single nucleotide variantNM_001007559.3(SS18):c.649A>G (p.Met217Val)not specified [RCV004312911]uncertain significance182603941526039415Humanname
401856803CV2760888single nucleotide variantNM_001007559.3(SS18):c.613A>G (p.Met205Val)not specified [RCV004336523]uncertain significance182603945126039451Humanname
401858694CV2786317single nucleotide variantNM_001007559.3(SS18):c.836G>A (p.Gly279Glu)not specified [RCV004361927]uncertain significance182603859926038599Humanname
407516878CV3474900single nucleotide variantNM_001007559.3(SS18):c.809A>G (p.Tyr270Cys)not specified [RCV004675448]uncertain significance182603862626038626Humanname
407526029CV3474901single nucleotide variantNM_001007559.3(SS18):c.559A>G (p.Met187Val)not specified [RCV004679510]uncertain significance182605267226052672Humanname
407516881CV3474902single nucleotide variantNM_001007559.3(SS18):c.325A>C (p.Met109Leu)not specified [RCV004675449]uncertain significance182605764926057649Humanname
407526032CV3474903single nucleotide variantNM_001007559.3(SS18):c.925G>A (p.Gly309Ser)not specified [RCV004679511]uncertain significance182603587926035879Humanname
597681200CV3611720single nucleotide variantNM_001007559.3(SS18):c.836G>C (p.Gly279Ala)not specified [RCV004857506]uncertain significance182603859926038599Humanname
598174001CV3922841single nucleotide variantNM_001007559.3(SS18):c.858G>C (p.Met286Ile)not specified [RCV005285283]uncertain significance182603857726038577Humanname
598174023CV3922844single nucleotide variantNM_001007559.3(SS18):c.911C>T (p.Ser304Leu)not specified [RCV005285286]uncertain significance182603589326035893Humanname
151348132CV1322398single nucleotide variantNM_001007559.3(SS18):c.1051C>T (p.Gln351Ter)not provided [RCV001804203]uncertain significance182603505026035050Humanname
156000559CV2257760single nucleotide variantNM_001007559.3(SS18):c.1097G>C (p.Gly366Ala)not specified [RCV004127827]uncertain significance182603253226032532Humanname
329350394CV2469453single nucleotide variantNM_001007559.3(SS18):c.1174C>T (p.Pro392Ser)not specified [RCV004282910]uncertain significance182603245526032455Humanname
405703370CV3326936single nucleotide variantNM_001007559.3(SS18):c.1070G>A (p.Gly357Asp)not specified [RCV004460718]uncertain significance182603503126035031Humanname
598174015CV3922843single nucleotide variantNM_001007559.3(SS18):c.1094A>G (p.Tyr365Cys)not specified [RCV005285285]uncertain significance182603500726035007Humanname
598174030CV3922845single nucleotide variantNM_001007559.3(SS18):c.1019C>T (p.Pro340Leu)not specified [RCV005285287]uncertain significance182603508226035082Humanname
150335798CV1173374single nucleotide variantNM_198935.3(SS18L1):c.70-89A>Gnot provided [RCV001540710]benign206215858362158583Humanname
150465511CV1268622single nucleotide variantNM_198935.3(SS18L1):c.70-56C>Tnot provided [RCV001694318]benign206215861662158616Humanname
15202905CV778587deletionNM_198935.3(SS18L1):c.824-7delSS18L1-related disorder [RCV003903318]|not provided [RCV000958101]benign206216541562165415Humanname , trait , alternate_id
150504018CV1212599single nucleotide variantNM_198935.3(SS18L1):c.722-23C>Gnot provided [RCV001595474]benign206216412262164122Humanname
150511784CV1212835single nucleotide variantNM_198935.3(SS18L1):c.232-25C>Tnot provided [RCV001598067]benign206216141162161411Humanname
150514441CV1228221single nucleotide variantNM_198935.3(SS18L1):c.824-31C>Tnot provided [RCV001638499]benign206216539162165391Humanname
150452150CV1231666single nucleotide variantNM_198935.3(SS18L1):c.916+15T>Cnot provided [RCV001647972]benign206216552962165529Humanname
150473477CV1234286single nucleotide variantNM_198935.3(SS18L1):c.232-43G>Anot provided [RCV001651605]benign206216139362161393Humanname
150473309CV1252386single nucleotide variantNM_198935.3(SS18L1):c.556+83C>Tnot provided [RCV001671588]benign206216301462163014Humanname
150464587CV1252720single nucleotide variantNM_198935.3(SS18L1):c.147-35G>Anot provided [RCV001670044]benign206215984262159842Humanname
150501629CV1256347single nucleotide variantNM_198935.3(SS18L1):c.916+61C>Tnot provided [RCV001676971]benign206216557562165575Humanname
150463585CV1263827single nucleotide variantNM_198935.3(SS18L1):c.556+91C>Tnot provided [RCV001682528]benign206216302262163022Humanname
150488252CV1265219single nucleotide variantNM_198935.3(SS18L1):c.231+81T>Cnot provided [RCV001687255]benign206216004262160042Humanname
150454718CV1266059single nucleotide variantNM_198935.3(SS18L1):c.146+62C>Anot provided [RCV001692636]benign206215881062158810Humanname
405294118CV3203467single nucleotide variantNM_198935.3(SS18L1):c.721+10G>ASS18L1-related disorder [RCV003934000]likely benign206216363262163632Humanname , trait , alternate_id
150339852CV1168449single nucleotide variantNM_198935.3(SS18L1):c.1036+98T>Cnot provided [RCV001534668]benign206217289962172899Humanname
150514377CV1211977single nucleotide variantNM_198935.3(SS18L1):c.557-175C>Anot provided [RCV001599046]benign206216328362163283Humanname
150503377CV1212470single nucleotide variantNM_198935.3(SS18L1):c.376+175C>Anot provided [RCV001595345]benign206216175562161755Humanname
150512554CV1213003single nucleotide variantNM_198935.3(SS18L1):c.917-301C>Tnot provided [RCV001598235]benign206217238162172381Humanname
150506374CV1213764single nucleotide variantNM_198935.3(SS18L1):c.722-122G>Anot provided [RCV001596021]benign206216402362164023Humanname
150479046CV1221440single nucleotide variantNM_198935.3(SS18L1):c.147-180A>Gnot provided [RCV001616519]benign206215969762159697Humanname
150516950CV1227389single nucleotide variantNM_198935.3(SS18L1):c.147-183C>Gnot provided [RCV001639490]benign206215969462159694Humanname
150500922CV1238278single nucleotide variantNM_198935.3(SS18L1):c.232-192C>Anot provided [RCV001656708]benign206216124462161244Humanname
150476948CV1239959single nucleotide variantNM_198935.3(SS18L1):c.556+156G>Anot provided [RCV001652137]benign206216308762163087Humanname
150466978CV1240500single nucleotide variantNM_198935.3(SS18L1):c.722-228C>Tnot provided [RCV001650261]benign206216391762163917Humanname
150506599CV1242254single nucleotide variantNM_198935.3(SS18L1):c.917-241G>Anot provided [RCV001658608]benign206217244162172441Humanname
150465721CV1255080single nucleotide variantNM_198935.3(SS18L1):c.823+140T>Cnot provided [RCV001670253]benign206216438662164386Humanname
150454873CV1261054single nucleotide variantNM_198935.3(SS18L1):c.377-163C>Tnot provided [RCV001681251]benign206216258962162589Humanname
150439630CV1266800single nucleotide variantNM_198935.3(SS18L1):c.917-165G>Cnot provided [RCV001690235]benign206217251762172517Humanname
150468369CV1267926single nucleotide variantNM_198935.3(SS18L1):c.557-170C>Tnot provided [RCV001694789]benign206216328862163288Humanname
150492563CV1268269single nucleotide variantNM_198935.3(SS18L1):c.1037-73A>Tnot provided [RCV001688000]benign206217444462174444Humanname
150465652CV1268645single nucleotide variantNM_198935.3(SS18L1):c.824-116G>Anot provided [RCV001694341]benign206216530662165306Humanname
150497879CV1271415single nucleotide variantNM_198935.3(SS18L1):c.557-161A>Gnot provided [RCV001689105]benign206216329762163297Humanname
150461573CV1272899single nucleotide variantNM_198935.3(SS18L1):c.557-165G>Tnot provided [RCV001693654]benign206216329362163293Humanname
150475419CV1279053single nucleotide variantNM_198935.3(SS18L1):c.722-109C>Tnot provided [RCV001713838]benign206216403662164036Humanname
150436116CV1249643single nucleotide variantNM_198935.3(SS18L1):c.1165-225G>Anot provided [RCV001665557]benign206217895762178957Humanname
150462768CV1253708deletionNM_198935.3(SS18L1):c.1037-164delnot provided [RCV001669750]benign206217435262174352Humanname
150454937CV1266101single nucleotide variantNM_198935.3(SS18L1):c.1036+146C>Tnot provided [RCV001692678]benign206217294762172947Humanname
150473737CV1252456deletionNM_198935.3(SS18L1):c.916+19_916+31delnot provided [RCV001671658]benign206216553262165544Humanname
150463509CV1263816deletionNM_198935.3(SS18L1):c.916+15_916+16delnot provided [RCV001682517]benign206216552962165530Humanname
150517244CV1226692single nucleotide variantNM_198935.3(SS18L1):c.609C>T (p.Gly203=)SS18L1-related disorder [RCV003968413]|not provided [RCV001639786]benign206216351062163510Humanname , trait , alternate_id
150508896CV1229757single nucleotide variantNM_198935.3(SS18L1):c.663C>T (p.Ser221=)SS18L1-related disorder [RCV003910937]|not provided [RCV001636336]benign206216356462163564Humanname , trait , alternate_id
150489386CV1236356single nucleotide variantNM_198935.3(SS18L1):c.477G>A (p.Ser159=)SS18L1-related disorder [RCV003975777]|not provided [RCV001654497]benign206216285262162852Humanname , trait , alternate_id
405277259CV3195425single nucleotide variantNM_198935.3(SS18L1):c.144G>A (p.Thr48=)SS18L1-related disorder [RCV003904211]likely benign206215874662158746Humanname , trait , alternate_id
405270436CV3211385single nucleotide variantNM_198935.3(SS18L1):c.945C>T (p.Ala315=)SS18L1-related disorder [RCV003949283]likely benign206217271062172710Humanname , trait , alternate_id
405293536CV3214264single nucleotide variantNM_198935.3(SS18L1):c.792G>A (p.Ala264=)SS18L1-related disorder [RCV003931966]likely benign206216421562164215Humanname , trait , alternate_id
15112460CV728763single nucleotide variantNM_198935.3(SS18L1):c.24C>T (p.Ala8=)SS18L1-related disorder [RCV003920820]|not provided [RCV000894473]benign206214384462143844Humanname , trait , alternate_id
15153609CV728764single nucleotide variantNM_198935.3(SS18L1):c.1056G>A (p.Pro352=)SS18L1-related disorder [RCV003920497]|not provided [RCV000880043]benign206217453662174536Humanname , trait , alternate_id
40818065CV969106single nucleotide variantNM_198935.3(SS18L1):c.961G>A (p.Ala321Thr)Amyotrophic lateral sclerosis [RCV001260222]|SS18L1-related disorder [RCV003963161]|not provided [RCV001673040]benign|uncertain significance206217272662172726Human2name , trait , alternate_id
156338537CV2224953single nucleotide variantNM_198935.3(SS18L1):c.7G>A (p.Val3Met)not specified [RCV004094803]uncertain significance206214382762143827Humanname
597779440CV3611723single nucleotide variantNM_198935.3(SS18L1):c.25C>T (p.Arg9Trp)not specified [RCV004873563]uncertain significance206214384562143845Humanname
405703392CV3326939single nucleotide variantNM_198935.3(SS18L1):c.57A>C (p.Gln19His)not specified [RCV004460721]uncertain significance206214387762143877Humanname
15113111CV757640single nucleotide variantNM_198935.3(SS18L1):c.510C>T (p.Ile170=)not provided [RCV000917034]likely benign206216288562162885Humanname
15137945CV757641single nucleotide variantNM_198935.3(SS18L1):c.786C>A (p.Gly262=)not provided [RCV000921253]likely benign206216420962164209Humanname
329356932CV2431197single nucleotide variantNM_198935.3(SS18L1):c.233C>T (p.Pro78Leu)not specified [RCV004250544]uncertain significance206216143762161437Humanname
401919851CV2824553single nucleotide variantNM_198935.3(SS18L1):c.1128G>A (p.Pro376=)not provided [RCV003431393]likely benign206217460862174608Humanname
597779436CV3611721single nucleotide variantNM_198935.3(SS18L1):c.247A>T (p.Met83Leu)not specified [RCV004873562]uncertain significance206216145162161451Humanname
597681216CV3611724single nucleotide variantNM_198935.3(SS18L1):c.131C>T (p.Thr44Met)not specified [RCV004857508]uncertain significance206215873362158733Humanname
597681223CV3611725single nucleotide variantNM_198935.3(SS18L1):c.229G>A (p.Ala77Thr)not specified [RCV004857509]uncertain significance206215995962159959Humanname
598174045CV3922847single nucleotide variantNM_198935.3(SS18L1):c.101G>A (p.Cys34Tyr)not specified [RCV005285289]uncertain significance206215870362158703Humanname
8637421CV92647single nucleotide variantNM_198935.2(SS18L1):c.1089C>T (p.Gly363=)Malignant melanoma [RCV000072745]not provided206217456962174569Humanname
9481090CV153740single nucleotide variantNM_198935.3(SS18L1):c.369T>G (p.Ile123Met)not provided [RCV000133518]uncertain significance206216157362161573Humanname
156312355CV2196352single nucleotide variantNM_198935.3(SS18L1):c.838G>A (p.Ala280Thr)not specified [RCV004072527]uncertain significance206216543662165436Humanname
156389975CV2222905single nucleotide variantNM_198935.3(SS18L1):c.472G>A (p.Ala158Thr)not specified [RCV004101721]uncertain significance206216284762162847Humanname
155932095CV2293883single nucleotide variantNM_198935.3(SS18L1):c.965C>T (p.Ala322Val)not specified [RCV004155140]uncertain significance206217273062172730Humanname
155906048CV2303235single nucleotide variantNM_198935.3(SS18L1):c.335G>T (p.Gly112Val)not specified [RCV004156988]uncertain significance206216153962161539Humanname
155973258CV2335896single nucleotide variantNM_198935.3(SS18L1):c.614G>C (p.Ser205Thr)not specified [RCV004196115]uncertain significance206216351562163515Humanname
156092665CV2381921single nucleotide variantNM_198935.3(SS18L1):c.610G>A (p.Gly204Ser)not specified [RCV004225859]uncertain significance206216351162163511Humanname
329377456CV2453312single nucleotide variantNM_198935.3(SS18L1):c.678G>A (p.Met226Ile)not specified [RCV004266942]uncertain significance206216357962163579Humanname
401745849CV2693362single nucleotide variantNM_198935.3(SS18L1):c.578C>T (p.Ala193Val)not specified [RCV004295323]uncertain significance206216347962163479Humanname
401887116CV2775619single nucleotide variantNM_198935.3(SS18L1):c.763G>A (p.Glu255Lys)not specified [RCV004350770]uncertain significance206216418662164186Humanname
405703386CV3326938single nucleotide variantNM_198935.3(SS18L1):c.388G>A (p.Val130Met)not specified [RCV004460720]uncertain significance206216276362162763Humanname
405703399CV3326940single nucleotide variantNM_198935.3(SS18L1):c.681G>A (p.Met227Ile)not specified [RCV004460722]uncertain significance206216358262163582Humanname
407526034CV3474905single nucleotide variantNM_198935.3(SS18L1):c.946G>A (p.Gly316Arg)not specified [RCV004679512]uncertain significance206217271162172711Humanname
597681207CV3611722single nucleotide variantNM_198935.3(SS18L1):c.912G>T (p.Glu304Asp)not specified [RCV004857507]uncertain significance206216551062165510Humanname
597681231CV3611726single nucleotide variantNM_198935.3(SS18L1):c.466G>C (p.Gly156Arg)not specified [RCV004857510]uncertain significance206216284162162841Humanname
597687559CV3611727single nucleotide variantNM_001370300.1(SS18L2):c.24C>A (p.Asp8Glu)not specified [RCV004857511]uncertain significance34259092142590921Humanname
597688982CV3611728single nucleotide variantNM_001370300.1(SS18L2):c.20C>T (p.Pro7Leu)not specified [RCV004873564]uncertain significance34259091742590917Humanname
598174038CV3922846single nucleotide variantNM_198935.3(SS18L1):c.433A>G (p.Met145Val)not specified [RCV005285288]uncertain significance206216280862162808Humanname
598174051CV3922848single nucleotide variantNM_198935.3(SS18L1):c.428C>T (p.Thr143Ile)not specified [RCV005285290]uncertain significance206216280362162803Humanname
598213012CV3922849single nucleotide variantNM_198935.3(SS18L1):c.665A>C (p.Gln222Pro)not specified [RCV005271048]uncertain significance206216356662163566Humanname
598174063CV3922851single nucleotide variantNM_001370300.1(SS18L2):c.14T>A (p.Phe5Tyr)not specified [RCV005285292]uncertain significance34259091142590911Humanname
15182243CV742494single nucleotide variantNM_198935.3(SS18L1):c.463G>A (p.Ala155Thr)not provided [RCV000907776]likely benign206216283862162838Humanname
9481089CV153739single nucleotide variantNM_198935.3(SS18L1):c.1162C>T (p.Gln388Ter)not provided [RCV000133517]uncertain significance206217464262174642Humanname
155948538CV2273504single nucleotide variantNM_198935.3(SS18L1):c.1129T>G (p.Ser377Ala)not specified [RCV004132248]uncertain significance206217460962174609Humanname
155963272CV2282723single nucleotide variantNM_001370300.1(SS18L2):c.90G>T (p.Gln30His)not specified [RCV004141585]uncertain significance34259154542591545Humanname
405703417CV3326942single nucleotide variantNM_001370300.1(SS18L2):c.35G>C (p.Gly12Ala)not specified [RCV004460724]uncertain significance34259093242590932Humanname
407516884CV3474904single nucleotide variantNM_198935.3(SS18L1):c.1069G>A (p.Gly357Ser)not specified [RCV004675450]likely benign206217454962174549Humanname
598174059CV3922850single nucleotide variantNM_001370300.1(SS18L2):c.86A>G (p.Asp29Gly)not specified [RCV005285291]uncertain significance34259154142591541Humanname
156007178CV2394328single nucleotide variantNM_001370300.1(SS18L2):c.109G>A (p.Glu37Lys)not specified [RCV004238549]uncertain significance34259156442591564Humanname
401749129CV2734247single nucleotide variantNM_001370300.1(SS18L2):c.142G>A (p.Val48Met)not specified [RCV004332518]uncertain significance34259159742591597Humanname
9481091CV153741deletionNM_198935.3(SS18L1):c.660_668del (p.219QGS[1])not provided [RCV000133519]uncertain significance206216355662163564Humanname