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26 records found for search term B3galt2
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RGD IDSymbolVariant TypeNameTraitClinical SignificanceChrStartStopSpeciesAnnotationsMatch
407475758CV3416458single nucleotide variantNM_003783.3(B3GALT2):c.153C>T (p.Gly51=)not provided [RCV004597716]likely benign1193181410193181410Humanname
598128458CV3887662single nucleotide variantNM_003783.3(B3GALT2):c.333C>T (p.Gly111=)not provided [RCV005243836]likely benign1193181230193181230Humanname
598217453CV3925961single nucleotide variantNM_003783.3(B3GALT2):c.71G>A (p.Arg24His)not specified [RCV005293036]uncertain significance1193181492193181492Humanname
598241536CV3925969single nucleotide variantNM_003783.3(B3GALT2):c.70C>T (p.Arg24Cys)not specified [RCV005296947]uncertain significance1193181493193181493Humanname
155991312CV2256432single nucleotide variantNM_003783.3(B3GALT2):c.194G>A (p.Arg65Gln)not specified [RCV004116862]uncertain significance1193181369193181369Humanname
155943864CV2294891single nucleotide variantNM_003783.3(B3GALT2):c.239G>A (p.Arg80Gln)not specified [RCV004156045]uncertain significance1193181324193181324Humanname
597804756CV3630464single nucleotide variantNM_003783.3(B3GALT2):c.275G>A (p.Arg92Lys)not specified [RCV004882417]uncertain significance1193181288193181288Humanname
156317645CV2251074single nucleotide variantNM_003783.3(B3GALT2):c.548T>C (p.Ile183Thr)not specified [RCV004123620]uncertain significance1193181015193181015Humanname
11087618CV227841single nucleotide variantNM_003783.3(B3GALT2):c.367T>G (p.Tyr123Asp)Hyperparathyroidism 2 with jaw tumors [RCV000211442]likely benign1193181196193181196Human1name
156085036CV2295231single nucleotide variantNM_003783.3(B3GALT2):c.349A>C (p.Ser117Arg)not specified [RCV004158614]uncertain significance1193181214193181214Humanname
156269337CV2314965single nucleotide variantNM_003783.3(B3GALT2):c.607C>T (p.Arg203Cys)not specified [RCV004164891]uncertain significance1193180956193180956Humanname
156274876CV2320109single nucleotide variantNM_003783.3(B3GALT2):c.339G>T (p.Glu113Asp)not specified [RCV004167956]uncertain significance1193181224193181224Humanname
155917976CV2362470single nucleotide variantNM_003783.3(B3GALT2):c.779A>T (p.Glu260Val)not specified [RCV004213090]uncertain significance1193180784193180784Humanname
401735829CV2672752single nucleotide variantNM_003783.3(B3GALT2):c.403C>T (p.His135Tyr)not specified [RCV004287762]uncertain significance1193181160193181160Humanname
401735044CV2699145single nucleotide variantNM_003783.3(B3GALT2):c.598T>C (p.Tyr200His)not specified [RCV004303647]uncertain significance1193180965193180965Humanname
401739562CV2708521single nucleotide variantNM_003783.3(B3GALT2):c.910C>T (p.Pro304Ser)not specified [RCV004313608]uncertain significance1193180653193180653Humanname
401892507CV2782105single nucleotide variantNM_003783.3(B3GALT2):c.879T>A (p.Asp293Glu)not specified [RCV004359098]uncertain significance1193180684193180684Humanname
405690719CV3290530single nucleotide variantNM_003783.3(B3GALT2):c.552A>C (p.Gln184His)not specified [RCV004423443]uncertain significance1193181011193181011Humanname
407475943CV3416936single nucleotide variantNM_003783.3(B3GALT2):c.539C>T (p.Ala180Val)not specified [RCV004599724]uncertain significance1193181024193181024Humanname
407475948CV3416948single nucleotide variantNM_003783.3(B3GALT2):c.377A>G (p.Lys126Arg)not specified [RCV004599735]uncertain significance1193181186193181186Humanname
597804728CV3630440single nucleotide variantNM_003783.3(B3GALT2):c.791A>G (p.Asn264Ser)not specified [RCV004882403]uncertain significance1193180772193180772Humanname
597804740CV3630448single nucleotide variantNM_003783.3(B3GALT2):c.958T>A (p.Ser320Thr)not specified [RCV004882409]uncertain significance1193180605193180605Humanname
156039728CV2279053single nucleotide variantNM_003783.3(B3GALT2):c.1250G>C (p.Arg417Pro)not specified [RCV004145733]uncertain significance1193180313193180313Humanname
156261698CV2395650single nucleotide variantNM_003783.3(B3GALT2):c.1007G>A (p.Arg336His)not specified [RCV004241491]uncertain significance1193180556193180556Humanname
401737993CV2700882single nucleotide variantNM_003783.3(B3GALT2):c.1185C>G (p.Asn395Lys)not specified [RCV004307150]uncertain significance1193180378193180378Humanname
598241495CV3925951single nucleotide variantNM_003783.3(B3GALT2):c.1250G>A (p.Arg417His)not specified [RCV005296941]uncertain significance1193180313193180313Humanname