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Pathways
Variants search result for Homo sapiens
(View Results for all Objects and Ontologies)


17 records found for search term Cnpy2
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RGD IDSymbolVariant TypeNameTraitClinical SignificanceChrStartStopSpeciesAnnotationsMatch
598257978CV3941331single nucleotide variantNM_014255.7(CNPY2):c.16T>C (p.Trp6Arg)not specified [RCV005324527]uncertain significance125631520256315202Humanname
401932227CV2807097single nucleotide variantNM_014255.7(CNPY2):c.375C>T (p.Ile125=)not provided [RCV003391894]likely benign125631124456311244Humanname
405674329CV3304638single nucleotide variantNM_014255.7(CNPY2):c.50C>G (p.Thr17Ser)not specified [RCV004442023]uncertain significance125631516856315168Humanname
597799104CV3650528single nucleotide variantNM_014255.7(CNPY2):c.94A>G (p.Arg32Gly)not specified [RCV004905037]uncertain significance125631496156314961Humanname
598257983CV3941332single nucleotide variantNM_014255.7(CNPY2):c.55T>A (p.Trp19Arg)not specified [RCV005324528]uncertain significance125631516356315163Humanname
598257988CV3941333single nucleotide variantNM_014255.7(CNPY2):c.61C>T (p.Arg21Trp)not specified [RCV005324529]uncertain significance125631515756315157Humanname
156276924CV2316570single nucleotide variantNM_014255.7(CNPY2):c.194C>T (p.Ser65Leu)not specified [RCV004170031]uncertain significance125631486156314861Humanname
407470715CV3425740single nucleotide variantNM_014255.7(CNPY2):c.152T>C (p.Ile51Thr)not specified [RCV004615516]uncertain significance125631490356314903Humanname
152977906CV1671263deletionNM_014255.7(CNPY2):c.46_50del (p.Gly16fs)Craniosynostosis syndrome [RCV002226937]likely pathogenic125631516856315172Human3name
156043912CV2397056single nucleotide variantNM_014255.7(CNPY2):c.473A>G (p.Asn158Ser)not specified [RCV004236570]uncertain significance125631099056310990Humanname
401855358CV2757270single nucleotide variantNM_014255.7(CNPY2):c.520G>A (p.Ala174Thr)not specified [RCV004338861]uncertain significance125631058156310581Humanname
405674325CV3304637single nucleotide variantNM_014255.7(CNPY2):c.320G>A (p.Arg107His)not specified [RCV004442022]uncertain significance125631129956311299Humanname
405674333CV3304639single nucleotide variantNM_014255.7(CNPY2):c.529A>G (p.Ile177Val)not specified [RCV004442024]uncertain significance125631057256310572Humanname
597799105CV3650529single nucleotide variantNM_014255.7(CNPY2):c.409T>C (p.Cys137Arg)not specified [RCV004905038]uncertain significance125631105456311054Humanname
597799107CV3650530single nucleotide variantNM_014255.7(CNPY2):c.397C>T (p.Leu133Phe)not specified [RCV004905039]uncertain significance125631122256311222Humanname
597799112CV3650532single nucleotide variantNM_014255.7(CNPY2):c.368T>C (p.Ile123Thr)not specified [RCV004905041]uncertain significance125631125156311251Humanname
598257972CV3941330single nucleotide variantNM_014255.7(CNPY2):c.467C>T (p.Ala156Val)not specified [RCV005324526]uncertain significance125631099656310996Humanname