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Variants search result for Homo sapiens
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26 records found for search term Mtx2
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RGD IDSymbolVariant TypeNameTraitClinical SignificanceChrStartStopSpeciesAnnotationsMatch
401919584CV2794902single nucleotide variantNM_006554.5(MTX2):c.135+2T>CMandibuloacral dysplasia progeroid syndrome [RCV003388648]likely pathogenic2176297897176297897Human1name
21071015CV794268single nucleotide variantNM_006554.5(MTX2):c.544-1G>CMandibuloacral dysplasia progeroid syndrome [RCV001270623]|Progeroid mandibuloacral dysplasia [RCV000993787]pathogenic2176330583176330583Human1name
21071013CV794267deletionNM_006554.5(MTX2):c.208+3_208+6delMandibuloacral dysplasia progeroid syndrome [RCV001270624]|Progeroid mandibuloacral dysplasia [RCV000993786]pathogenic2176323465176323468Human1name
21071011CV794265single nucleotide variantNM_006554.5(MTX2):c.2T>A (p.Met1Lys)Mandibuloacral dysplasia progeroid syndrome [RCV001270621]|Progeroid mandibuloacral dysplasia [RCV000993785]pathogenic2176269631176269631Human1name
401917104CV2819241single nucleotide variantNM_006554.5(MTX2):c.573A>G (p.Gln191=)not provided [RCV003429383]benign2176330613176330613Humanname
155925934CV2365669single nucleotide variantNM_006554.5(MTX2):c.223A>T (p.Ile75Phe)not specified [RCV004214223]uncertain significance2176326839176326839Humanname
156218840CV2393526single nucleotide variantNM_006554.5(MTX2):c.131T>C (p.Val44Ala)not specified [RCV004231347]uncertain significance2176297891176297891Humanname
405670686CV3378194single nucleotide variantNM_006554.5(MTX2):c.109G>A (p.Asp37Asn)not specified [RCV004515119]uncertain significance2176297869176297869Humanname
598227940CV3986575single nucleotide variantNM_006554.5(MTX2):c.199T>C (p.Ser67Pro)not specified [RCV005380822]uncertain significance2176323455176323455Humanname
598263595CV3986576single nucleotide variantNM_006554.5(MTX2):c.184A>G (p.Asn62Asp)not specified [RCV005387499]uncertain significance2176323440176323440Humanname
21071016CV794266deletionNM_006554.5(MTX2):c.603del (p.Tyr202fs)Mandibuloacral dysplasia progeroid syndrome [RCV001270622]|Progeroid mandibuloacral dysplasia [RCV000993788]pathogenic2176330643176330643Human1name
155939801CV2221815single nucleotide variantNM_006554.5(MTX2):c.721A>G (p.Asn241Asp)not specified [RCV004102845]uncertain significance2176337593176337593Humanname
156292504CV2233458single nucleotide variantNM_006554.5(MTX2):c.770G>A (p.Arg257His)not provided [RCV004695419]|not specified [RCV004106082]uncertain significance2176337642176337642Humanname
156019631CV2272654single nucleotide variantNM_006554.5(MTX2):c.473C>G (p.Ala158Gly)not specified [RCV004133531]uncertain significance2176329356176329356Humanname
156177199CV2355835single nucleotide variantNM_006554.5(MTX2):c.409G>A (p.Val137Ile)not specified [RCV004201231]uncertain significance2176328904176328904Humanname
401783547CV2723693single nucleotide variantNM_006554.5(MTX2):c.580T>C (p.Ser194Pro)not specified [RCV004325862]uncertain significance2176330620176330620Humanname
401883694CV2754936single nucleotide variantNM_006554.5(MTX2):c.766G>C (p.Asp256His)not specified [RCV004341405]uncertain significance2176337638176337638Humanname
401895097CV2792790single nucleotide variantNM_006554.5(MTX2):c.383A>G (p.Tyr128Cys)not specified [RCV004365545]uncertain significance2176328878176328878Humanname
405670768CV3378212single nucleotide variantNM_006554.5(MTX2):c.670A>G (p.Thr224Ala)not specified [RCV004515137]uncertain significance2176337542176337542Humanname
405670781CV3378215single nucleotide variantNM_006554.5(MTX2):c.711A>C (p.Lys237Asn)not specified [RCV004515140]uncertain significance2176337583176337583Humanname
407507538CV3457740single nucleotide variantNM_006554.5(MTX2):c.601C>T (p.Pro201Ser)not specified [RCV004646845]uncertain significance2176330641176330641Humanname
407476383CV3457741single nucleotide variantNM_006554.5(MTX2):c.347A>C (p.Glu116Ala)not specified [RCV004638568]uncertain significance2176328354176328354Humanname
407507541CV3457742single nucleotide variantNM_006554.5(MTX2):c.662C>T (p.Thr221Ile)not specified [RCV004646846]uncertain significance2176337534176337534Humanname
597639455CV3561406single nucleotide variantNM_006554.5(MTX2):c.345G>A (p.Met115Ile)not specified [RCV004825118]uncertain significance2176328352176328352Humanname
597651156CV3561407single nucleotide variantNM_006554.5(MTX2):c.507G>A (p.Met169Ile)not specified [RCV004833702]uncertain significance2176329390176329390Humanname
26898567CV815876microsatelliteNM_006554.5(MTX2):c.295_296del (p.Ser98_Leu99insTer)Mandibuloacral dysplasia progeroid syndrome [RCV001270625]|Micrognathia [RCV001034695]pathogenic2176328299176328300Humanname