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


51 records found for search term Rabep1
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RGD IDSymbolVariant TypeNameTraitClinical SignificanceChrStartStopSpeciesAnnotationsMatch
15174990CV778278single nucleotide variantNM_004703.6(RABEP1):c.2371-4T>Cnot provided [RCV000950470]benign1753813855381385Humanname
156289753CV2309745single nucleotide variantNM_004703.6(RABEP1):c.5C>A (p.Ala2Glu)not specified [RCV004160871]uncertain significance1752824915282491Humanname
401756746CV2696466single nucleotide variantNM_004703.6(RABEP1):c.22T>C (p.Ser8Pro)not specified [RCV004312542]likely benign1752825085282508Humanname
156381891CV2227096single nucleotide variantNM_004703.6(RABEP1):c.69A>C (p.Lys23Asn)not specified [RCV004091727]uncertain significance1753087285308728Humanname
597751864CV3589182single nucleotide variantNM_004703.6(RABEP1):c.49C>T (p.Arg17Trp)not specified [RCV004846750]uncertain significance1753087085308708Humanname
597751879CV3589185single nucleotide variantNM_004703.6(RABEP1):c.38C>G (p.Ser13Cys)not specified [RCV004846753]uncertain significance1753086975308697Humanname
401935642CV2814772single nucleotide variantNM_004703.6(RABEP1):c.1179G>A (p.Ser393=)not provided [RCV003413099]likely benign1753612915361291Humanname
597775470CV3589178single nucleotide variantNM_004703.6(RABEP1):c.2272T>C (p.Leu758=)not specified [RCV004852258]likely benign1753803645380364Humanname
597751857CV3589179single nucleotide variantNM_004703.6(RABEP1):c.2376C>T (p.Thr792=)not specified [RCV004846748]likely benign1753813945381394Humanname
15172406CV727293single nucleotide variantNM_004703.6(RABEP1):c.1206C>T (p.Leu402=)not provided [RCV000883835]likely benign1753613185361318Humanname
156188282CV2226754single nucleotide variantNM_004703.6(RABEP1):c.589G>A (p.Ala197Thr)not specified [RCV004101973]uncertain significance1753380795338079Humanname
155913895CV2242535single nucleotide variantNM_004703.6(RABEP1):c.397C>T (p.His133Tyr)not specified [RCV004113605]uncertain significance1753352135335213Humanname
155981951CV2244134single nucleotide variantNM_004703.6(RABEP1):c.623A>C (p.Lys208Thr)not specified [RCV004108592]uncertain significance1753381135338113Humanname
156212529CV2259962single nucleotide variantNM_004703.6(RABEP1):c.569C>T (p.Pro190Leu)not specified [RCV004118984]uncertain significance1753380595338059Humanname
155926281CV2284846single nucleotide variantNM_004703.6(RABEP1):c.328T>G (p.Trp110Gly)not specified [RCV004143306]uncertain significance1753321135332113Humanname
156178881CV2327618single nucleotide variantNM_004703.6(RABEP1):c.485C>G (p.Ser162Cys)not specified [RCV004177202]uncertain significance1753353015335301Humanname
155927066CV2395961single nucleotide variantNM_004703.6(RABEP1):c.448G>A (p.Ala150Thr)not specified [RCV004237511]uncertain significance1753352645335264Humanname
329400101CV2440577single nucleotide variantNM_004703.6(RABEP1):c.655G>A (p.Glu219Lys)not specified [RCV004256490]uncertain significance1753467965346796Humanname
401746004CV2695481single nucleotide variantNM_004703.6(RABEP1):c.664C>A (p.His222Asn)not specified [RCV004305667]uncertain significance1753468055346805Humanname
401744054CV2696926single nucleotide variantNM_004703.6(RABEP1):c.485C>A (p.Ser162Tyr)not specified [RCV004292926]uncertain significance1753353015335301Humanname
401878909CV2773782single nucleotide variantNM_004703.6(RABEP1):c.633G>C (p.Glu211Asp)not specified [RCV004358237]uncertain significance1753381235338123Humanname
401890769CV2778939single nucleotide variantNM_004703.6(RABEP1):c.920C>T (p.Ser307Leu)not specified [RCV004348602]uncertain significance1753505865350586Humanname
405680748CV3318806single nucleotide variantNM_004703.6(RABEP1):c.473G>C (p.Arg158Thr)not specified [RCV004443265]uncertain significance1753352895335289Humanname
597751874CV3589184single nucleotide variantNM_004703.6(RABEP1):c.473G>A (p.Arg158Lys)not specified [RCV004846752]uncertain significance1753352895335289Humanname
598164771CV3908609single nucleotide variantNM_004703.6(RABEP1):c.766C>T (p.Arg256Trp)not specified [RCV005261766]uncertain significance1753469075346907Humanname
598164798CV3908613single nucleotide variantNM_004703.6(RABEP1):c.650T>A (p.Val217Asp)not specified [RCV005261770]uncertain significance1753467915346791Humanname
156174816CV2194466single nucleotide variantNM_004703.6(RABEP1):c.1798G>A (p.Val600Ile)not specified [RCV004079560]uncertain significance1753683825368382Humanname
156069320CV2320613single nucleotide variantNM_004703.6(RABEP1):c.1361C>T (p.Thr454Ile)not specified [RCV004172230]uncertain significance1753614735361473Humanname
156334012CV2333325single nucleotide variantNM_004703.6(RABEP1):c.1979T>G (p.Val660Gly)not specified [RCV004197066]uncertain significance1753734085373408Humanname
156226480CV2352748single nucleotide variantNM_004703.6(RABEP1):c.2020A>G (p.Thr674Ala)not specified [RCV004198770]uncertain significance1753734495373449Humanname
156342374CV2368539single nucleotide variantNM_004703.6(RABEP1):c.2092G>A (p.Val698Ile)not specified [RCV004221330]uncertain significance1753771825377182Humanname
329387404CV2436441single nucleotide variantNM_004703.6(RABEP1):c.2534G>A (p.Arg845Gln)not specified [RCV004251824]uncertain significance1753831685383168Humanname
329354968CV2473340single nucleotide variantNM_004703.6(RABEP1):c.1768G>A (p.Glu590Lys)Teratoma [RCV003221383]uncertain significance1753652215365221Human2name
401749413CV2693124single nucleotide variantNM_004703.6(RABEP1):c.1782C>A (p.His594Gln)not specified [RCV004308657]uncertain significance1753652355365235Humanname
401759072CV2694412single nucleotide variantNM_004703.6(RABEP1):c.2080G>A (p.Ala694Thr)not specified [RCV004304592]uncertain significance1753771705377170Humanname
401735499CV2702790single nucleotide variantNM_004703.6(RABEP1):c.1748A>G (p.Asp583Gly)not specified [RCV004319357]uncertain significance1753652015365201Humanname
401762550CV2719970single nucleotide variantNM_004703.6(RABEP1):c.1605G>A (p.Met535Ile)not specified [RCV004323556]uncertain significance1753629535362953Humanname
405680712CV3318798single nucleotide variantNM_004703.6(RABEP1):c.1102T>G (p.Leu368Val)not specified [RCV004443257]uncertain significance1753612145361214Humanname
405680717CV3318799single nucleotide variantNM_004703.6(RABEP1):c.1399A>T (p.Met467Leu)not specified [RCV004443258]uncertain significance1753615115361511Humanname
405680727CV3318801single nucleotide variantNM_004703.6(RABEP1):c.1790C>G (p.Ser597Cys)not specified [RCV004443260]uncertain significance1753683745368374Humanname
405680732CV3318802single nucleotide variantNM_004703.6(RABEP1):c.1793C>T (p.Ala598Val)not specified [RCV004443261]uncertain significance1753683775368377Humanname
405680737CV3318803single nucleotide variantNM_004703.6(RABEP1):c.1871T>C (p.Val624Ala)not specified [RCV004443262]uncertain significance1753684555368455Humanname
405680745CV3318805single nucleotide variantNM_004703.6(RABEP1):c.2309A>T (p.Glu770Val)not specified [RCV004443264]uncertain significance1753804015380401Humanname
407484207CV3461756single nucleotide variantNM_004703.6(RABEP1):c.2146G>A (p.Glu716Lys)not specified [RCV004665073]uncertain significance1753772365377236Humanname
597775466CV3589177single nucleotide variantNM_004703.6(RABEP1):c.2075G>A (p.Arg692Gln)not specified [RCV004852257]uncertain significance1753771655377165Humanname
597751860CV3589181single nucleotide variantNM_004703.6(RABEP1):c.1592G>C (p.Arg531Thr)not specified [RCV004846749]uncertain significance1753629405362940Humanname
597751869CV3589183single nucleotide variantNM_004703.6(RABEP1):c.2465T>G (p.Val822Gly)not specified [RCV004846751]uncertain significance1753814835381483Humanname
598164780CV3908610single nucleotide variantNM_004703.6(RABEP1):c.1056A>T (p.Leu352Phe)not specified [RCV005261767]uncertain significance1753544515354451Humanname
598164786CV3908611single nucleotide variantNM_004703.6(RABEP1):c.1178C>T (p.Ser393Leu)not specified [RCV005261768]uncertain significance1753612905361290Humanname
598164792CV3908612single nucleotide variantNM_004703.6(RABEP1):c.1103T>C (p.Leu368Ser)not specified [RCV005261769]uncertain significance1753612155361215Humanname
598164805CV3908614single nucleotide variantNM_004703.6(RABEP1):c.1580A>G (p.Asn527Ser)not specified [RCV005261771]uncertain significance1753629285362928Humanname