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Pathways
Variants search result for All species
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23 records found for search term Bet1
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RGD IDSymbolVariant TypeNameTraitClinical SignificanceChrStartStopSpeciesAnnotationsMatch
14393199CV610581deletionNM_005868.6(BET1):c.134del (p.Ala45fs)Muscular dystrophy, congenital, with rapid progression [RCV003494570]|Seizure [RCV000758148]pathogenic|uncertain significance79399918093999180Human4name
401773872CV2727659single nucleotide variantNM_005868.6(BET1):c.116T>G (p.Leu39Arg)not specified [RCV004329836]uncertain significance79399919893999198Humanname
401894196CV2770482single nucleotide variantNM_005868.6(BET1):c.279A>T (p.Gln93His)not specified [RCV004358117]uncertain significance79399430893994308Humanname
405728409CV3298211single nucleotide variantNM_005868.6(BET1):c.281C>A (p.Thr94Lys)not specified [RCV004429032]uncertain significance79399430693994306Humanname
14394889CV610592single nucleotide variantNM_005868.6(BET1):c.202G>C (p.Asp68His)Muscular dystrophy, congenital, with rapid progression [RCV003494571]|Seizure [RCV000758166]pathogenic|uncertain significance79399438593994385Human4name
39456595CV965784single nucleotide variantNM_005868.6(BET1):c.152T>G (p.Ile51Ser)Muscular dystrophy, congenital, with rapid progression [RCV003494572]|not provided [RCV001255430]pathogenic|uncertain significance79399631493996314Human1name
598161122CV3949362single nucleotide variantNM_005868.6(BET1):c.349C>G (p.Leu117Val)not specified [RCV005306945]uncertain significance79399423893994238Humanname
150470535CV1219264duplicationNM_001098787.2(BET1L):c.-59_-39dupnot provided [RCV001615016]benign11207359207360Humanname
401903968CV2806351single nucleotide variantNM_001098787.2(BET1L):c.87C>T (p.Ala29=)not provided [RCV003394653]likely benign11205976205976Humanname
597738468CV3636531single nucleotide variantNM_001098787.2(BET1L):c.7G>C (p.Asp3His)not specified [RCV004890025]uncertain significance11207315207315Humanname
155955107CV2302374single nucleotide variantNM_001098787.2(BET1L):c.63C>G (p.Asn21Lys)not specified [RCV004161125]uncertain significance11206000206000Humanname
405728421CV3298213single nucleotide variantNM_001098787.2(BET1L):c.29C>T (p.Pro10Leu)not specified [RCV004429034]uncertain significance11206034206034Humanname
405728434CV3298214single nucleotide variantNM_001098787.2(BET1L):c.55C>T (p.Arg19Trp)not specified [RCV004429035]uncertain significance11206008206008Humanname
156202190CV2313203single nucleotide variantNM_001098787.2(BET1L):c.229A>G (p.Met77Val)not specified [RCV004161459]uncertain significance11205409205409Humanname
329364752CV2443827single nucleotide variantNM_001098787.2(BET1L):c.277G>A (p.Val93Met)not specified [RCV004258168]uncertain significance11205361205361Humanname
405728413CV3298212single nucleotide variantNM_001098787.2(BET1L):c.218G>A (p.Arg73His)not specified [RCV004429033]uncertain significance11205420205420Humanname
597738478CV3636529single nucleotide variantNM_001098787.2(BET1L):c.287T>C (p.Ile96Thr)not specified [RCV004890023]uncertain significance11205351205351Humanname
597738461CV3636533single nucleotide variantNM_001098787.2(BET1L):c.146A>C (p.Gln49Pro)not specified [RCV004890027]uncertain significance11205633205633Humanname
597738456CV3636534single nucleotide variantNM_001098787.2(BET1L):c.148A>C (p.Asn50His)not specified [RCV004890028]uncertain significance11205631205631Humanname
597738452CV3636535single nucleotide variantNM_001098787.2(BET1L):c.149A>C (p.Asn50Thr)not specified [RCV004890029]uncertain significance11205630205630Humanname
156388959CV2229814single nucleotide variantNM_001098787.2(BET1L):c.322A>G (p.Arg108Gly)not specified [RCV004105386]uncertain significance11205316205316Humanname
597738473CV3636530single nucleotide variantNM_001098787.2(BET1L):c.304C>T (p.Leu102Phe)not specified [RCV004890024]uncertain significance11205334205334Humanname
597738464CV3636532single nucleotide variantNM_001098787.2(BET1L):c.332C>T (p.Thr111Met)not specified [RCV004890026]uncertain significance11205306205306Humanname