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Pathways
Variants search result for Homo sapiens
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29 records found for search term Fam136a
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RGD IDSymbolVariant TypeNameTraitClinical SignificanceChrStartStopSpeciesAnnotationsMatch
405276627CV3193479single nucleotide variantNM_001329752.2(FAM136A):c.408+7G>CFAM136A-related disorder [RCV003974647]benign27030159770301597Humanname , trait , alternate_id
405287322CV3205719single nucleotide variantNM_001329752.2(FAM136A):c.408+10C>TFAM136A-related disorder [RCV003959834]likely benign27030159470301594Humanname , trait , alternate_id
15102293CV719945single nucleotide variantNM_001329752.2(FAM136A):c.72C>T (p.Asn24=)not provided [RCV000892449]benign|likely benign27030194070301940Humanname
156037206CV2313435single nucleotide variantNM_001329752.2(FAM136A):c.18G>C (p.Gln6His)not specified [RCV004163753]uncertain significance27030199470301994Humanname
401731152CV2707742single nucleotide variantNM_001329752.2(FAM136A):c.19C>T (p.Leu7Phe)not specified [RCV004306993]uncertain significance27030199370301993Humanname
329388335CV2466271single nucleotide variantNM_001329752.2(FAM136A):c.35C>T (p.Ala12Val)not specified [RCV004280204]uncertain significance27030197770301977Humanname
405276864CV3193513single nucleotide variantNM_001329752.2(FAM136A):c.582C>T (p.Asn194=)FAM136A-related disorder [RCV003974681]benign27029744570297445Humanname , trait , alternate_id
405280807CV3195680single nucleotide variantNM_001329752.2(FAM136A):c.654G>A (p.Val218=)FAM136A-related disorder [RCV003906915]likely benign27029737370297373Humanname , trait , alternate_id
405277098CV3198732single nucleotide variantNM_001329752.2(FAM136A):c.369C>A (p.Leu123=)FAM136A-related disorder [RCV003904057]likely benign27030164370301643Humanname , trait , alternate_id
405726840CV3259816single nucleotide variantNM_001329752.2(FAM136A):c.30G>C (p.Gln10His)not specified [RCV004378696]uncertain significance27030198270301982Humanname
597737366CV3668538single nucleotide variantNM_001329752.2(FAM136A):c.40G>A (p.Glu14Lys)not specified [RCV004920822]uncertain significance27030197270301972Humanname
153349658CV1693772single nucleotide variantNM_001329752.2(FAM136A):c.229C>G (p.Leu77Val)not provided [RCV002276074]likely benign27030178370301783Humanname
405258239CV3208295single nucleotide variantNM_001329752.2(FAM136A):c.107A>C (p.Asn36Thr)FAM136A-related disorder [RCV003941723]benign27030190570301905Humanname , trait , alternate_id
405285356CV3212344single nucleotide variantNM_001329752.2(FAM136A):c.161C>T (p.Ala54Val)FAM136A-related disorder [RCV003958959]benign27030185170301851Humanname , trait , alternate_id
405272691CV3220471single nucleotide variantNM_001329752.2(FAM136A):c.271C>T (p.Arg91Cys)FAM136A-related disorder [RCV003972274]benign27030174170301741Humanname , trait , alternate_id
9686574CV150299single nucleotide variantNM_001329752.2(FAM136A):c.547C>T (p.Gln183Ter)Meniere disease [RCV000149519]pathogenic27030084270300842Human1name
155955428CV1936308single nucleotide variantNM_001329752.2(FAM136A):c.554G>A (p.Arg185His)not provided [RCV002511972]benign27029747370297473Humanname
155950758CV2302068single nucleotide variantNM_001329752.2(FAM136A):c.430G>A (p.Ala144Thr)not specified [RCV004158828]uncertain significance27030095970300959Humanname
156386354CV2364725single nucleotide variantNM_001329752.2(FAM136A):c.523G>T (p.Val175Phe)FAM136A-related disorder [RCV003963781]|not specified [RCV004219601]likely benign|uncertain significance27030086670300866Humanname , trait , alternate_id
401876421CV2760767single nucleotide variantNM_001329752.2(FAM136A):c.464A>G (p.Lys155Arg)not specified [RCV004336411]uncertain significance27030092570300925Humanname
405285291CV3202596single nucleotide variantNM_001329752.2(FAM136A):c.356G>C (p.Trp119Ser)FAM136A-related disorder [RCV003909851]benign27030165670301656Humanname , trait , alternate_id
405273231CV3207139single nucleotide variantNM_001329752.2(FAM136A):c.385C>G (p.Pro129Ala)FAM136A-related disorder [RCV003914641]likely benign27030162770301627Humanname , trait , alternate_id
405278342CV3221886single nucleotide variantNM_001329752.2(FAM136A):c.583G>C (p.Asp195His)FAM136A-related disorder [RCV003976441]benign27029744470297444Humanname , trait , alternate_id
405726818CV3259813single nucleotide variantNM_001329752.2(FAM136A):c.461T>C (p.Met154Thr)not specified [RCV004378693]uncertain significance27030092870300928Humanname
405726831CV3259815single nucleotide variantNM_001329752.2(FAM136A):c.476A>G (p.Gln159Arg)not specified [RCV004378695]uncertain significance27030091370300913Humanname
407507965CV3435482single nucleotide variantNM_001329752.2(FAM136A):c.422G>A (p.Arg141Gln)not specified [RCV004625287]uncertain significance27030096770300967Humanname
597737371CV3668539single nucleotide variantNM_001329752.2(FAM136A):c.608C>A (p.Ala203Asp)not specified [RCV004920823]uncertain significance27029741970297419Humanname
598224762CV3965876single nucleotide variantNM_001329752.2(FAM136A):c.484G>C (p.Glu162Gln)not specified [RCV005341342]uncertain significance27030090570300905Humanname
401912075CV2811979deletionNM_001329752.2(FAM136A):c.644_647del (p.Asp215fs)not provided [RCV003427005]likely benign27029738070297383Humanname