Send us a Message



Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   
Pathways
Variants search result for All species
(View Results for all Objects and Ontologies)


64 records found for search term Jakmip1
Refine Term:
Sort By:
           Export CSV TAB Print

RGD IDSymbolVariant TypeNameTraitClinical SignificanceChrStartStopSpeciesAnnotationsMatch
405207187CV2874112duplicationNM_001099433.2(JAKMIP1):c.835-3dupnot provided [RCV003552092]benign460849676084968Humanname
150479430CV1273466single nucleotide variantNM_001099433.2(JAKMIP1):c.625-15C>Tnot provided [RCV001696670]benign460856446085644Humanname
13210912CV424632single nucleotide variantNM_001099433.2(JAKMIP1):c.1432-2A>GIntellectual disability [RCV000496167]uncertain significance460624426062442Human2name
15163274CV743994single nucleotide variantNM_001099433.2(JAKMIP1):c.1303-9G>Anot provided [RCV000903737]likely benign460650176065017Humanname
405035730CV3016701duplicationNM_001099433.2(JAKMIP1):c.835-4_835-3dupnot provided [RCV003695927]benign460849676084968Humanname
15202172CV777355duplicationNM_001099433.2(JAKMIP1):c.835-20_835-3dupnot provided [RCV000957838]likely benign460849676084968Humanname
329373211CV2434145single nucleotide variantNM_001099433.2(JAKMIP1):c.5C>T (p.Ser2Leu)not specified [RCV004250041]uncertain significance461128466112846Humanname
155912858CV2341659single nucleotide variantNM_001099433.2(JAKMIP1):c.53C>T (p.Ala18Val)not specified [RCV004182583]uncertain significance461127986112798Humanname
401774316CV2691692single nucleotide variantNM_001099433.2(JAKMIP1):c.67A>C (p.Asn23His)not specified [RCV004299154]uncertain significance461127846112784Humanname
15153583CV709409single nucleotide variantNM_001099433.2(JAKMIP1):c.408G>A (p.Ala136=)not provided [RCV000968573]benign461056896105689Humanname
15100289CV764599single nucleotide variantNM_001099433.2(JAKMIP1):c.807G>A (p.Gly269=)not provided [RCV000936612]likely benign460854476085447Humanname
405795064CV3275314single nucleotide variantNM_001099433.2(JAKMIP1):c.161C>T (p.Ala54Val)not specified [RCV004401088]uncertain significance461059366105936Humanname
407511608CV3448069single nucleotide variantNM_001099433.2(JAKMIP1):c.287A>G (p.Glu96Gly)not specified [RCV004626519]uncertain significance461058106105810Humanname
407466742CV3448070single nucleotide variantNM_001099433.2(JAKMIP1):c.180G>T (p.Gln60His)not specified [RCV004635716]uncertain significance461059176105917Humanname
15174421CV709407single nucleotide variantNM_001099433.2(JAKMIP1):c.1758C>T (p.Asp586=)not provided [RCV000972713]benign460540986054098Humanname
15133476CV709408single nucleotide variantNM_001099433.2(JAKMIP1):c.1092C>T (p.Asn364=)not provided [RCV000964957]benign460816186081618Humanname
15184740CV721033single nucleotide variantNM_001099433.2(JAKMIP1):c.2226G>A (p.Pro742=)not provided [RCV000886516]benign460360576036057Humanname
15184949CV721034single nucleotide variantNM_001099433.2(JAKMIP1):c.2058C>T (p.Ala686=)not provided [RCV000886565]benign460421986042198Humanname
15166293CV721035single nucleotide variantNM_001099433.2(JAKMIP1):c.1038G>C (p.Leu346=)not provided [RCV000882601]benign460816726081672Humanname
15203170CV749022single nucleotide variantNM_001099433.2(JAKMIP1):c.2436G>A (p.Leu812=)not provided [RCV000913761]likely benign460297256029725Humanname
15125136CV749023single nucleotide variantNM_001099433.2(JAKMIP1):c.2211G>A (p.Ala737=)not provided [RCV000919101]benign460360726036072Humanname
15163732CV749024single nucleotide variantNM_001099433.2(JAKMIP1):c.1476C>G (p.Thr492=)not provided [RCV000926202]likely benign460623966062396Humanname
15101865CV749025single nucleotide variantNM_001099433.2(JAKMIP1):c.1464C>T (p.Phe488=)not provided [RCV000914865]benign460624086062408Humanname
15188102CV764598single nucleotide variantNM_001099433.2(JAKMIP1):c.1542C>T (p.Asp514=)not provided [RCV000931852]likely benign460623306062330Humanname
15099449CV782024single nucleotide variantNM_001099433.2(JAKMIP1):c.1320A>G (p.Thr440=)not provided [RCV000975259]likely benign460649916064991Humanname
8631223CV86379single nucleotide variantNM_001099433.1(JAKMIP1):c.1608C>T (p.Ile536=)Malignant melanoma [RCV000066470]not provided460604606060460Humanname
155918631CV2206005single nucleotide variantNM_001099433.2(JAKMIP1):c.553G>T (p.Ala185Ser)not specified [RCV004078422]uncertain significance461055446105544Humanname
155926545CV2345209single nucleotide variantNM_001099433.2(JAKMIP1):c.791T>A (p.Leu264His)not specified [RCV004195948]uncertain significance460854636085463Humanname
401750844CV2700089single nucleotide variantNM_001099433.2(JAKMIP1):c.478G>T (p.Ala160Ser)not specified [RCV004310505]uncertain significance461056196105619Humanname
401750847CV2700090single nucleotide variantNM_001099433.2(JAKMIP1):c.546C>G (p.Asp182Glu)not specified [RCV004310506]uncertain significance461055516105551Humanname
401721160CV2702290single nucleotide variantNM_001099433.2(JAKMIP1):c.391G>A (p.Ala131Thr)not specified [RCV004314621]uncertain significance461057066105706Humanname
401728998CV2729948single nucleotide variantNM_001099433.2(JAKMIP1):c.400A>G (p.Thr134Ala)not specified [RCV004332946]likely benign461056976105697Humanname
401729001CV2729949single nucleotide variantNM_001099433.2(JAKMIP1):c.414G>C (p.Glu138Asp)not specified [RCV004332947]uncertain significance461056836105683Humanname
401758103CV2731688single nucleotide variantNM_001099433.2(JAKMIP1):c.577G>C (p.Glu193Gln)not specified [RCV004331791]uncertain significance461055206105520Humanname
401872751CV2779990single nucleotide variantNM_001099433.2(JAKMIP1):c.842A>G (p.His281Arg)not specified [RCV004353581]uncertain significance460849586084958Humanname
405795067CV3275315single nucleotide variantNM_001099433.2(JAKMIP1):c.514T>A (p.Cys172Ser)not specified [RCV004401089]uncertain significance461055836105583Humanname
405795071CV3275317single nucleotide variantNM_001099433.2(JAKMIP1):c.799G>A (p.Gly267Arg)not specified [RCV004401091]uncertain significance460854556085455Humanname
405795074CV3275318single nucleotide variantNM_001099433.2(JAKMIP1):c.854G>A (p.Arg285Gln)not specified [RCV004401092]uncertain significance460849466084946Humanname
405795077CV3275319single nucleotide variantNM_001099433.2(JAKMIP1):c.985C>G (p.Leu329Val)not specified [RCV004401093]uncertain significance460817256081725Humanname
407466735CV3448067single nucleotide variantNM_001099433.2(JAKMIP1):c.892A>C (p.Asn298His)not specified [RCV004635714]uncertain significance460849086084908Humanname
407466745CV3448071single nucleotide variantNM_001099433.2(JAKMIP1):c.517A>C (p.Met173Leu)not specified [RCV004635717]uncertain significance461055806105580Humanname
597777198CV3684186single nucleotide variantNM_001099433.2(JAKMIP1):c.406G>A (p.Ala136Thr)not specified [RCV004929810]uncertain significance461056916105691Humanname
597777216CV3691190single nucleotide variantNM_001099433.2(JAKMIP1):c.857A>G (p.Asp286Gly)not specified [RCV004929815]uncertain significance460849436084943Humanname
598211952CV3969322single nucleotide variantNM_001099433.2(JAKMIP1):c.647A>G (p.Asp216Gly)not specified [RCV005358760]uncertain significance460856076085607Humanname
598258634CV3969323single nucleotide variantNM_001099433.2(JAKMIP1):c.965C>T (p.Ser322Leu)not specified [RCV005347244]uncertain significance460817456081745Humanname
126914496CV1037501single nucleotide variantNM_001099433.2(JAKMIP1):c.1391C>T (p.Thr464Ile)not provided [RCV001358305]|not specified [RCV004034498]uncertain significance460649206064920Humanname
151352141CV1322294single nucleotide variantNM_001099433.2(JAKMIP1):c.1471C>A (p.Leu491Met)not provided [RCV001806917]uncertain significance460624016062401Humanname
156278147CV2252059single nucleotide variantNM_001099433.2(JAKMIP1):c.1117G>A (p.Ala373Thr)not specified [RCV004122091]uncertain significance460802976080297Humanname
156268395CV2275619single nucleotide variantNM_001099433.2(JAKMIP1):c.1678A>G (p.Ile560Val)not specified [RCV004137249]uncertain significance460567266056726Humanname
155924780CV2277183single nucleotide variantNM_001099433.2(JAKMIP1):c.1564C>T (p.Arg522Trp)not specified [RCV004142823]uncertain significance460605046060504Humanname
156205740CV2311450single nucleotide variantNM_001099433.2(JAKMIP1):c.1295C>T (p.Pro432Leu)not specified [RCV004168294]uncertain significance460789466078946Humanname
329370509CV2461744single nucleotide variantNM_001099433.2(JAKMIP1):c.1013G>A (p.Arg338Gln)not specified [RCV004269892]uncertain significance460816976081697Humanname
12912408CV248721single nucleotide variantNM_001099433.2(JAKMIP1):c.1756G>C (p.Asp586His)Smith-Magenis Syndrome-like [RCV000491606]pathogenic460541006054100Human1name
401870915CV2755892single nucleotide variantNM_001099433.2(JAKMIP1):c.1231G>A (p.Asp411Asn)not specified [RCV004335985]uncertain significance460801836080183Humanname
405795059CV3275312single nucleotide variantNM_001099433.2(JAKMIP1):c.1262G>A (p.Arg421His)not specified [RCV004401086]uncertain significance460789796078979Humanname
407466738CV3448068single nucleotide variantNM_001099433.2(JAKMIP1):c.1253G>A (p.Arg418Gln)not specified [RCV004635715]uncertain significance460789886078988Humanname
597777182CV3684182single nucleotide variantNM_001099433.2(JAKMIP1):c.1222G>A (p.Val408Ile)not specified [RCV004929806]uncertain significance460801926080192Humanname
597777186CV3684183single nucleotide variantNM_001099433.2(JAKMIP1):c.1093G>A (p.Val365Met)not specified [RCV004929807]uncertain significance460816176081617Humanname
597777190CV3684184single nucleotide variantNM_001099433.2(JAKMIP1):c.1559G>A (p.Arg520Gln)not specified [RCV004929808]uncertain significance460623136062313Humanname
597777201CV3691186single nucleotide variantNM_001099433.2(JAKMIP1):c.1712A>G (p.Tyr571Cys)not specified [RCV004929811]uncertain significance460541446054144Humanname
597777205CV3691187single nucleotide variantNM_001099433.2(JAKMIP1):c.1210G>C (p.Glu404Gln)not specified [RCV004929812]uncertain significance460802046080204Humanname
597777209CV3691188single nucleotide variantNM_001099433.2(JAKMIP1):c.1432G>A (p.Ala478Thr)not specified [RCV004929813]likely benign460624406062440Humanname
597777213CV3691189single nucleotide variantNM_001099433.2(JAKMIP1):c.1580C>T (p.Ala527Val)not specified [RCV004929814]uncertain significance460604886060488Humanname
8625819CV80943single nucleotide variantNM_001099433.1(JAKMIP1):c.1478G>T (p.Arg493Leu)Malignant melanoma [RCV000061020]not provided460623946062394Humanname