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


56 records found for search term Eral1
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RGD IDSymbolVariant TypeNameTraitClinical SignificanceChrStartStopSpeciesAnnotationsMatch
150439519CV1247730single nucleotide variantNM_005702.4(ERAL1):c.*65G>Tnot provided [RCV001666097]benign172886061828860618Human3name
150439519CV1247730single nucleotide variantNM_005702.4(ERAL1):c.*65G>Tnot provided [RCV001666097]benign172886061828860619Human3name
150468357CV1257042single nucleotide variantNM_005702.4(ERAL1):c.*218C>Tnot provided [RCV001670688]benign172886077128860771Human8name
150468357CV1257042single nucleotide variantNM_005702.4(ERAL1):c.*218C>Tnot provided [RCV001670688]benign172886077128860772Human8name
405258237CV3208293single nucleotide variantNM_005702.4(ERAL1):c.412-8C>TERAL1-related disorder [RCV003941721]benign172885649728856497Humanname , trait , alternate_id
8627948CV83092single nucleotide variantNM_005702.2(ERAL1):c.490-1G>AMalignant melanoma [RCV000063172]not provided172885793828857938Humanname
150333713CV1172974single nucleotide variantNM_005702.4(ERAL1):c.411+53G>Anot provided [RCV001539626]benign172885644428856444Humanname
8585299CV119882single nucleotide variantNM_005702.2(ERAL1):c.284-51C>ALung cancer [RCV000100402]uncertain significance172885621328856213Humanname
150438758CV1221209single nucleotide variantNM_005702.4(ERAL1):c.284-127C>Gnot provided [RCV001609903]benign172885613728856137Human1name
150438758CV1221209single nucleotide variantNM_005702.4(ERAL1):c.284-127C>Gnot provided [RCV001609903]benign172885613728856138Human1name
150445545CV1278170deletionNM_005702.4(ERAL1):c.489+147delnot provided [RCV001707313]benign172885671528856715Humanname
150509253CV1284491single nucleotide variantNM_005702.4(ERAL1):c.284-178G>Anot provided [RCV001720599]benign172885608628856086Human6name
150463653CV1263837single nucleotide variantNM_005702.4(ERAL1):c.1191+177T>Cnot provided [RCV001682538]benign172885946028859460Humanname
405283361CV3217116single nucleotide variantNM_005702.4(ERAL1):c.81G>A (p.Arg27=)ERAL1-related disorder [RCV003979233]likely benign172885511528855115Humanname , trait , alternate_id
405740093CV3249367single nucleotide variantNM_005702.4(ERAL1):c.8C>T (p.Ala3Val)not specified [RCV004380446]uncertain significance172885504228855042Humanname
156250319CV2215654single nucleotide variantNM_005702.4(ERAL1):c.18G>C (p.Trp6Cys)not specified [RCV004089399]uncertain significance172885505228855052Humanname
156231334CV2348756single nucleotide variantNM_005702.4(ERAL1):c.22G>A (p.Gly8Arg)not specified [RCV004203206]uncertain significance172885505628855056Humanname
405740072CV3249364single nucleotide variantNM_005702.4(ERAL1):c.26C>T (p.Ala9Val)not specified [RCV004380443]uncertain significance172885506028855060Humanname
150436552CV1245321single nucleotide variantNM_005702.4(ERAL1):c.945C>T (p.Asp315=)Perrault syndrome 6 [RCV001661288]|not provided [RCV001694152]benign172885880928858809Human1name
405270529CV3213308single nucleotide variantNM_005702.4(ERAL1):c.723G>A (p.Leu241=)ERAL1-related disorder [RCV003971402]benign172885858728858587Humanname , trait , alternate_id
597804107CV3671403single nucleotide variantNM_005702.4(ERAL1):c.73G>A (p.Val25Ile)not specified [RCV004907528]uncertain significance172885510728855107Humanname
126730463CV1021616single nucleotide variantNM_005702.4(ERAL1):c.151G>A (p.Ala51Thr)Perrault syndrome 6 [RCV001333441]uncertain significance172885518528855185Human1name
156049895CV2271839single nucleotide variantNM_005702.4(ERAL1):c.172G>A (p.Ala58Thr)not specified [RCV004130666]uncertain significance172885520628855206Humanname
156077953CV2291697single nucleotide variantNM_005702.4(ERAL1):c.163C>A (p.Pro55Thr)not specified [RCV004155978]uncertain significance172885519728855197Humanname
156082897CV2301206single nucleotide variantNM_005702.4(ERAL1):c.245C>T (p.Ser82Leu)not specified [RCV004160112]uncertain significance172885527928855279Humanname
329358014CV2453857single nucleotide variantNM_005702.4(ERAL1):c.133T>A (p.Ser45Thr)not specified [RCV004271253]uncertain significance172885516728855167Humanname
401857735CV2750525single nucleotide variantNM_005702.4(ERAL1):c.1011A>C (p.Ala337=)not provided [RCV003334198]likely benign172885901428859014Humanname
401896698CV2791962single nucleotide variantNM_005702.4(ERAL1):c.188G>T (p.Ser63Ile)not specified [RCV004359382]uncertain significance172885522228855222Humanname
405268335CV3219613single nucleotide variantNM_005702.4(ERAL1):c.1107G>A (p.Gln369=)ERAL1-related disorder [RCV003969816]likely benign172885911028859110Humanname , trait , alternate_id
152033188CV1519373single nucleotide variantNM_005702.4(ERAL1):c.685A>T (p.Ile229Phe)Hearing impairment [RCV002086729]uncertain significance172885846028858460Human2name
401725717CV2735938single nucleotide variantNM_005702.4(ERAL1):c.356T>A (p.Leu119Gln)not provided [RCV003312382]uncertain significance172885633628856336Humanname
405261258CV3212500single nucleotide variantNM_005702.4(ERAL1):c.542A>G (p.His181Arg)ERAL1-related disorder [RCV003944427]likely benign172885815128858151Humanname , trait , alternate_id
405282655CV3213037single nucleotide variantNM_005702.4(ERAL1):c.890T>C (p.Ile297Thr)ERAL1-related disorder [RCV003957133]likely benign172885875428858754Humanname , trait , alternate_id
405265960CV3215774single nucleotide variantNM_005702.4(ERAL1):c.454G>A (p.Ala152Thr)ERAL1-related disorder [RCV003946930]likely benign172885654728856547Humanname , trait , alternate_id
405740079CV3249365single nucleotide variantNM_005702.4(ERAL1):c.601G>T (p.Val201Leu)not specified [RCV004380444]uncertain significance172885837628858376Humanname
405740086CV3249366single nucleotide variantNM_005702.4(ERAL1):c.782G>T (p.Gly261Val)not specified [RCV004380445]uncertain significance172885864628858646Humanname
405740099CV3249368single nucleotide variantNM_005702.4(ERAL1):c.902A>G (p.His301Arg)not specified [RCV004380447]uncertain significance172885876628858766Humanname
407479493CV3441912single nucleotide variantNM_005702.4(ERAL1):c.596T>C (p.Leu199Pro)not specified [RCV004617788]uncertain significance172885820528858205Humanname
407479498CV3441913single nucleotide variantNM_005702.4(ERAL1):c.991C>T (p.Pro331Ser)not specified [RCV004617789]uncertain significance172885899428858994Humanname
407479503CV3441915single nucleotide variantNM_005702.4(ERAL1):c.439A>G (p.Thr147Ala)not specified [RCV004617791]uncertain significance172885653228856532Humanname
408367725CV3513051single nucleotide variantNM_005702.4(ERAL1):c.951A>C (p.Lys317Asn)ERAL1-related disorder [RCV004759151]likely benign172885881528858815Humanname , trait , alternate_id
597804104CV3671401single nucleotide variantNM_005702.4(ERAL1):c.511A>G (p.Ile171Val)not specified [RCV004907526]uncertain significance172885796028857960Humanname
598169943CV3961626single nucleotide variantNM_005702.4(ERAL1):c.752C>T (p.Thr251Met)not specified [RCV005330582]uncertain significance172885861628858616Humanname
598169950CV3961628single nucleotide variantNM_005702.4(ERAL1):c.532A>C (p.Lys178Gln)not specified [RCV005330584]uncertain significance172885798128857981Humanname
598169953CV3961629single nucleotide variantNM_005702.4(ERAL1):c.763A>C (p.Thr255Pro)not specified [RCV005330585]uncertain significance172885862728858627Humanname
617152635CV4017865single nucleotide variantNM_005702.4(ERAL1):c.919A>T (p.Met307Leu)Perrault syndrome 6 [RCV005417654]uncertain significance172885878328858783Human1name
13207964CV424018single nucleotide variantNM_005702.4(ERAL1):c.707A>T (p.Asn236Ile)Perrault syndrome 6 [RCV000494893]|Perrault syndrome [RCV002527117]pathogenic|likely pathogenic|not provided172885848228858482Human2name
126730461CV1021617single nucleotide variantNM_005702.4(ERAL1):c.1057C>T (p.Arg353Ter)Perrault syndrome 6 [RCV001333440]pathogenic172885906028859060Humanname
156144371CV2264975single nucleotide variantNM_005702.4(ERAL1):c.1038G>T (p.Glu346Asp)not specified [RCV004126149]uncertain significance172885904128859041Humanname
329362228CV2466194single nucleotide variantNM_005702.4(ERAL1):c.1271T>G (p.Leu424Arg)not specified [RCV004279837]uncertain significance172886051028860510Humanname
401773505CV2709346single nucleotide variantNM_005702.4(ERAL1):c.1031C>G (p.Pro344Arg)not specified [RCV004316490]uncertain significance172885903428859034Humanname
597804100CV3671399single nucleotide variantNM_005702.4(ERAL1):c.1250A>G (p.His417Arg)not specified [RCV004907524]likely benign172886048928860489Humanname
597804102CV3671400single nucleotide variantNM_005702.4(ERAL1):c.1195C>T (p.Leu399Phe)not specified [RCV004907525]uncertain significance172886043428860434Humanname
597804109CV3671404single nucleotide variantNM_005702.4(ERAL1):c.1306C>T (p.Leu436Phe)not specified [RCV004907529]uncertain significance172886054528860545Humanname
598169946CV3961627single nucleotide variantNM_005702.4(ERAL1):c.1093C>T (p.Pro365Ser)not specified [RCV005330583]uncertain significance172885909628859096Humanname
598169956CV3961630single nucleotide variantNM_005702.4(ERAL1):c.1105C>A (p.Gln369Lys)not specified [RCV005330586]uncertain significance172885910828859108Humanname