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Variants search result for Homo sapiens
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23 records found for search term Nmnat2
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RGD IDSymbolVariant TypeNameTraitClinical SignificanceChrStartStopSpeciesAnnotationsMatch
8575222CV109567single nucleotide variantNM_015039.3(NMNAT2):c.85+2412G>ALung cancer [RCV000090092]uncertain significance1183415771183415771Humanname
8629146CV84291single nucleotide variantNM_015039.3(NMNAT2):c.574+122C>TMalignant melanoma [RCV000064373]not provided1183283873183283873Humanname
8575221CV109566single nucleotide variantNM_015039.3(NMNAT2):c.86-41552A>GLung cancer [RCV000090091]uncertain significance1183335345183335345Humanname
156151293CV2197885single nucleotide variantNM_015039.4(NMNAT2):c.234T>A (p.Asp78Glu)not specified [RCV004077113]uncertain significance1183292798183292798Humanname
156117932CV2231993single nucleotide variantNM_015039.4(NMNAT2):c.292G>A (p.Val98Met)not specified [RCV004093051]uncertain significance1183290157183290157Humanname
401738578CV2676325single nucleotide variantNM_015039.4(NMNAT2):c.191G>A (p.Arg64Gln)not specified [RCV004286359]uncertain significance1183292841183292841Humanname
13531567CV511202duplicationNM_015039.4(NMNAT2):c.403dup (p.Gln135fs)Inborn genetic diseases [RCV000623445]likely pathogenic1183286706183286707Human1name
151726437CV1291818single nucleotide variantNM_015039.4(NMNAT2):c.427G>A (p.Val143Met)Vascular dementia [RCV002051767]uncertain significance1183286683183286683Human1name
156087441CV2295422single nucleotide variantNM_015039.4(NMNAT2):c.568G>C (p.Glu190Gln)not specified [RCV004160544]uncertain significance1183284001183284001Humanname
156046748CV2304292single nucleotide variantNM_015039.4(NMNAT2):c.484C>T (p.Arg162Trp)not specified [RCV004164415]uncertain significance1183284755183284755Humanname
155937728CV2380075single nucleotide variantNM_015039.4(NMNAT2):c.485G>A (p.Arg162Gln)not specified [RCV004222201]uncertain significance1183284754183284754Humanname
329359870CV2462348single nucleotide variantNM_015039.4(NMNAT2):c.509T>C (p.Val170Ala)not specified [RCV004266331]uncertain significance1183284730183284730Humanname
401771836CV2722963single nucleotide variantNM_015039.4(NMNAT2):c.409A>G (p.Ile137Val)not specified [RCV004327141]uncertain significance1183286701183286701Humanname
405725044CV3359206single nucleotide variantNM_015039.4(NMNAT2):c.379G>A (p.Gly127Arg)not specified [RCV004495710]uncertain significance1183286731183286731Humanname
407509417CV3458891single nucleotide variantNM_015039.4(NMNAT2):c.526G>T (p.Val176Leu)not specified [RCV004647415]uncertain significance1183284713183284713Humanname
597654115CV3566285single nucleotide variantNM_015039.4(NMNAT2):c.503C>T (p.Pro168Leu)not specified [RCV004827220]uncertain significance1183284736183284736Humanname
597654122CV3566286single nucleotide variantNM_015039.4(NMNAT2):c.664G>T (p.Val222Phe)not specified [RCV004827221]uncertain significance1183261291183261291Humanname
597654130CV3566287single nucleotide variantNM_015039.4(NMNAT2):c.500G>A (p.Arg167His)not specified [RCV004827222]uncertain significance1183284739183284739Humanname
598206178CV4004363single nucleotide variantNM_015039.4(NMNAT2):c.834G>C (p.Gln278His)not specified [RCV005376875]uncertain significance1183252731183252731Humanname
13532397CV511201single nucleotide variantNM_015039.4(NMNAT2):c.695G>A (p.Arg232Gln)not specified [RCV004025263]likely pathogenic1183261260183261260Humanname
8624822CV79937single nucleotide variantNM_015039.3(NMNAT2):c.790C>T (p.Pro264Ser)Malignant melanoma [RCV000060013]not provided1183261033183261033Humanname
8629147CV84292single nucleotide variantNM_015039.3(NMNAT2):c.324G>T (p.Arg108Ser)Malignant melanoma [RCV000064374]not provided1183286786183286786Humanname
8629148CV84293single nucleotide variantNM_015039.3(NMNAT2):c.323G>A (p.Arg108Lys)Malignant melanoma [RCV000064375]not provided1183286787183286787Humanname