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27 records found for search term Scnm1
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RGD IDSymbolVariant TypeNameTraitClinical SignificanceChrStartStopSpeciesAnnotationsMatch
598128860CV3886659single nucleotide variantNM_024041.4(SCNM1):c.593+3G>Anot provided [RCV005244319]likely benign1151168341151168341Humanname
155976222CV2211362single nucleotide variantNM_024041.4(SCNM1):c.9C>G (p.Phe3Leu)not specified [RCV004090281]uncertain significance1151166161151166161Humanname
156183622CV2255358single nucleotide variantNM_024041.4(SCNM1):c.5C>G (p.Ser2Cys)not specified [RCV004117728]uncertain significance1151166157151166157Humanname
405758938CV3313940single nucleotide variantNM_024041.4(SCNM1):c.14G>A (p.Arg5Lys)not specified [RCV004454955]uncertain significance1151166166151166166Humanname
155645641CV1710975deletionNM_024041.4(SCNM1):c.187del (p.Arg63fs)Orofaciodigital syndrome 19 [RCV002294747]pathogenic1151166997151166997Human1name
401759404CV2701536single nucleotide variantNM_024041.4(SCNM1):c.59G>A (p.Arg20Lys)not specified [RCV004313983]uncertain significance1151166478151166478Humanname
405758971CV3313945single nucleotide variantNM_024041.4(SCNM1):c.74T>A (p.Leu25Gln)not specified [RCV004454960]uncertain significance1151166493151166493Humanname
598235183CV3910515single nucleotide variantNM_024041.4(SCNM1):c.60A>T (p.Arg20Ser)not specified [RCV005275203]uncertain significance1151166479151166479Humanname
155645638CV1710973single nucleotide variantNM_024041.4(SCNM1):c.152C>A (p.Pro51Gln)Orofaciodigital syndrome 19 [RCV002294745]pathogenic1151166963151166963Human1name
156094267CV2300288single nucleotide variantNM_024041.4(SCNM1):c.140G>T (p.Cys47Phe)not specified [RCV004153244]uncertain significance1151166951151166951Humanname
597692144CV3598247single nucleotide variantNM_024041.4(SCNM1):c.230G>A (p.Gly77Asp)not specified [RCV004858982]uncertain significance1151167139151167139Humanname
156178053CV2258214single nucleotide variantNM_024041.4(SCNM1):c.627G>C (p.Trp209Cys)not specified [RCV004121589]uncertain significance1151169019151169019Humanname
156346404CV2305298single nucleotide variantNM_024041.4(SCNM1):c.365C>G (p.Pro122Arg)not specified [RCV004171216]uncertain significance1151167381151167381Humanname
401763567CV2714597single nucleotide variantNM_024041.4(SCNM1):c.590G>A (p.Arg197Gln)not specified [RCV004318100]uncertain significance1151168335151168335Humanname
401880093CV2766123single nucleotide variantNM_024041.4(SCNM1):c.421G>A (p.Val141Ile)not specified [RCV004340578]uncertain significance1151168166151168166Humanname
401932767CV2809247single nucleotide variantNM_024041.4(SCNM1):c.521C>T (p.Ala174Val)not provided [RCV003408863]likely benign1151168266151168266Humanname
405758947CV3313941single nucleotide variantNM_024041.4(SCNM1):c.364C>G (p.Pro122Ala)not specified [RCV004454956]uncertain significance1151167380151167380Humanname
405758953CV3313942single nucleotide variantNM_024041.4(SCNM1):c.367C>A (p.His123Asn)not specified [RCV004454957]uncertain significance1151167383151167383Humanname
405758959CV3313943single nucleotide variantNM_024041.4(SCNM1):c.484C>A (p.Pro162Thr)not specified [RCV004454958]uncertain significance1151168229151168229Humanname
405758967CV3313944single nucleotide variantNM_024041.4(SCNM1):c.583A>G (p.Thr195Ala)not specified [RCV004454959]uncertain significance1151168328151168328Humanname
407484781CV3480170single nucleotide variantNM_024041.4(SCNM1):c.580C>T (p.Leu194Phe)not specified [RCV004658814]uncertain significance1151168325151168325Humanname
407484775CV3480171single nucleotide variantNM_024041.4(SCNM1):c.338T>C (p.Ile113Thr)not specified [RCV004658815]uncertain significance1151167354151167354Humanname
597692156CV3598249single nucleotide variantNM_024041.4(SCNM1):c.656C>T (p.Ser219Phe)not specified [RCV004858983]uncertain significance1151169048151169048Humanname
597692168CV3598250single nucleotide variantNM_024041.4(SCNM1):c.670C>T (p.Pro224Ser)not specified [RCV004858984]uncertain significance1151169062151169062Humanname
598235191CV3910516single nucleotide variantNM_024041.4(SCNM1):c.338T>G (p.Ile113Ser)not specified [RCV005275204]uncertain significance1151167354151167354Humanname
598235197CV3910517single nucleotide variantNM_024041.4(SCNM1):c.314C>G (p.Pro105Arg)not specified [RCV005275205]uncertain significance1151167330151167330Humanname
8624683CV79797single nucleotide variantNM_001204848.1(TNFAIP8L2-SCNM1):c.517C>T (p.Arg173Ter)Malignant melanoma [RCV000059873]not provided1151169014151169014Humanname