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Pathways
Variants search result for Homo sapiens
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30 records found for search term Cmtm5
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RGD IDSymbolVariant TypeNameTraitClinical SignificanceChrStartStopSpeciesAnnotationsMatch
401748629CV2694465single nucleotide variantNM_001288746.2(CMTM5):c.23G>A (p.Arg8Gln)not specified [RCV004304955]uncertain significance142337727423377274Humanname
407469724CV3429441single nucleotide variantNM_001288746.2(CMTM5):c.14G>A (p.Arg5Gln)not specified [RCV004615273]uncertain significance142337726523377265Humanname
15167442CV714072single nucleotide variantNM_001288746.2(CMTM5):c.129C>T (p.Ala43=)not provided [RCV000971401]benign142337835123378351Humanname
15167446CV714073single nucleotide variantNM_001288746.2(CMTM5):c.222C>G (p.Leu74=)not provided [RCV000971402]benign142337844423378444Humanname
156041456CV2219572single nucleotide variantNM_001288746.2(CMTM5):c.70G>A (p.Ala24Thr)not specified [RCV004095302]uncertain significance142337732123377321Humanname
597798563CV3653656single nucleotide variantNM_001288746.2(CMTM5):c.35C>T (p.Pro12Leu)not specified [RCV004904752]uncertain significance142337728623377286Humanname
598256757CV3941067single nucleotide variantNM_001288746.2(CMTM5):c.29G>A (p.Arg10Gln)not specified [RCV005324269]uncertain significance142337728023377280Humanname
156227803CV2234842single nucleotide variantNM_001288746.2(CMTM5):c.250C>T (p.Arg84Cys)not specified [RCV004113062]uncertain significance142337847223378472Humanname
156054973CV2320504single nucleotide variantNM_001288746.2(CMTM5):c.134C>A (p.Thr45Asn)not specified [RCV004172136]uncertain significance142337835623378356Humanname
329358771CV2425370single nucleotide variantNM_001288746.2(CMTM5):c.188C>T (p.Ala63Val)not specified [RCV004251031]uncertain significance142337841023378410Humanname
329388730CV2447811single nucleotide variantNM_001288746.2(CMTM5):c.121G>A (p.Glu41Lys)not specified [RCV004258586]uncertain significance142337737223377372Humanname
401882217CV2793409single nucleotide variantNM_001288746.2(CMTM5):c.142A>C (p.Ile48Leu)not specified [RCV004362505]uncertain significance142337836423378364Humanname
405663008CV3305130single nucleotide variantNM_001288746.2(CMTM5):c.155T>C (p.Phe52Ser)not specified [RCV004439652]uncertain significance142337837723378377Humanname
405663013CV3305131single nucleotide variantNM_001288746.2(CMTM5):c.221T>A (p.Leu74His)not specified [RCV004439653]uncertain significance142337844323378443Humanname
405663016CV3305132single nucleotide variantNM_001288746.2(CMTM5):c.260G>A (p.Arg87Gln)not specified [RCV004439654]uncertain significance142337848223378482Humanname
597798565CV3653657single nucleotide variantNM_001288746.2(CMTM5):c.158C>T (p.Thr53Met)not specified [RCV004904753]uncertain significance142337838023378380Humanname
597798569CV3653659single nucleotide variantNM_001288746.2(CMTM5):c.127G>T (p.Ala43Ser)not specified [RCV004904755]uncertain significance142337834923378349Humanname
597798576CV3653663single nucleotide variantNM_001288746.2(CMTM5):c.238C>G (p.Gln80Glu)not specified [RCV004904759]uncertain significance142337846023378460Humanname
156268544CV2195023single nucleotide variantNM_001288746.2(CMTM5):c.499A>T (p.Ser167Cys)not specified [RCV004077943]uncertain significance142337904923379049Humanname
156104721CV2311052single nucleotide variantNM_001288746.2(CMTM5):c.649G>A (p.Ala217Thr)not specified [RCV004164065]uncertain significance142337937423379374Humanname
156256221CV2359578single nucleotide variantNM_001288746.2(CMTM5):c.547C>T (p.Arg183Trp)not specified [RCV004214879]uncertain significance142337909723379097Humanname
405663022CV3305133single nucleotide variantNM_001288746.2(CMTM5):c.485T>A (p.Phe162Tyr)not specified [RCV004439655]uncertain significance142337903523379035Humanname
405663027CV3305134single nucleotide variantNM_001288746.2(CMTM5):c.490C>T (p.Arg164Cys)not specified [RCV004439656]uncertain significance142337904023379040Humanname
405663032CV3305135single nucleotide variantNM_001288746.2(CMTM5):c.496G>A (p.Val166Ile)not specified [RCV004439657]uncertain significance142337904623379046Humanname
405663036CV3305136single nucleotide variantNM_001288746.2(CMTM5):c.508A>G (p.Ile170Val)not specified [RCV004439658]uncertain significance142337905823379058Humanname
405663039CV3305137single nucleotide variantNM_001288746.2(CMTM5):c.511A>G (p.Ile171Val)not specified [RCV004439659]uncertain significance142337906123379061Humanname
405663045CV3305138single nucleotide variantNM_001288746.2(CMTM5):c.548G>A (p.Arg183Gln)not specified [RCV004439660]uncertain significance142337909823379098Humanname
597798567CV3653658single nucleotide variantNM_001288746.2(CMTM5):c.661G>T (p.Asp221Tyr)not specified [RCV004904754]uncertain significance142337947623379476Humanname
597798571CV3653660single nucleotide variantNM_001288746.2(CMTM5):c.646G>A (p.Gly216Arg)not specified [RCV004904756]likely benign142337937123379371Humanname
597798575CV3653662single nucleotide variantNM_001288746.2(CMTM5):c.553G>A (p.Gly185Arg)not specified [RCV004904758]uncertain significance142337910323379103Humanname