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


62 records found for search term Gal3st2
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RGD IDSymbolVariant TypeNameTraitClinical SignificanceChrStartStopSpeciesAnnotationsMatch
10449891CV215256single nucleotide variantNM_022134.3(GAL3ST2):c.29+1G>Anot provided [RCV000960243]|not specified [RCV000203062]likely benign|uncertain significance2241776985241776985Human2name
10449891CV215256single nucleotide variantNM_022134.3(GAL3ST2):c.29+1G>Anot provided [RCV000960243]|not specified [RCV000203062]likely benign|uncertain significance2241776985241776986Human2name
156344800CV2346224single nucleotide variantNM_022134.3(GAL3ST2):c.14T>A (p.Leu5Gln)not specified [RCV004203721]uncertain significance2241776969241776969Humanname
597779623CV3673464single nucleotide variantNM_022134.3(GAL3ST2):c.19G>A (p.Gly7Ser)not specified [RCV004930427]uncertain significance2241776974241776974Humanname
155921478CV2207207single nucleotide variantNM_022134.3(GAL3ST2):c.98C>T (p.Ser33Leu)not specified [RCV004087939]uncertain significance2241799133241799133Humanname
156124026CV2350073single nucleotide variantNM_022134.3(GAL3ST2):c.38G>A (p.Arg13Gln)not specified [RCV004199998]likely benign2241799073241799073Humanname
597753524CV3673465single nucleotide variantNM_022134.3(GAL3ST2):c.82G>A (p.Ala28Thr)not specified [RCV004924155]uncertain significance2241799117241799117Humanname
598202436CV3977554single nucleotide variantNM_022134.3(GAL3ST2):c.43A>C (p.Ile15Leu)not specified [RCV005337098]uncertain significance2241799078241799078Humanname
10044391CV188758single nucleotide variantNM_022134.3(GAL3ST2):c.197C>T (p.Thr66Met)not provided [RCV000171122]likely pathogenic2241801858241801858Humanname
156040840CV2310837single nucleotide variantNM_022134.3(GAL3ST2):c.173A>C (p.Lys58Thr)not specified [RCV004163884]uncertain significance2241801834241801834Humanname
155977390CV2338758single nucleotide variantNM_022134.3(GAL3ST2):c.200T>C (p.Val67Ala)not specified [RCV004182321]uncertain significance2241801861241801861Humanname
407486563CV3436167single nucleotide variantNM_022134.3(GAL3ST2):c.166T>C (p.Phe56Leu)not specified [RCV004619140]uncertain significance2241801827241801827Humanname
597753520CV3673462single nucleotide variantNM_022134.3(GAL3ST2):c.149C>T (p.Pro50Leu)not specified [RCV004924154]uncertain significance2241801810241801810Humanname
597779619CV3673463single nucleotide variantNM_022134.3(GAL3ST2):c.277G>A (p.Gly93Ser)not specified [RCV004930426]uncertain significance2241801938241801938Humanname
597753544CV3673470single nucleotide variantNM_022134.3(GAL3ST2):c.281A>G (p.Tyr94Cys)not specified [RCV004924160]uncertain significance2241801942241801942Humanname
155944452CV2242048single nucleotide variantNM_022134.3(GAL3ST2):c.728G>T (p.Trp243Leu)not specified [RCV004108983]uncertain significance2241803697241803697Humanname
156099031CV2250641single nucleotide variantNM_022134.3(GAL3ST2):c.998A>T (p.Gln333Leu)not specified [RCV004129274]uncertain significance2241803967241803967Humanname
156000207CV2257726single nucleotide variantNM_022134.3(GAL3ST2):c.718C>T (p.Arg240Trp)not specified [RCV004127800]uncertain significance2241803687241803687Humanname
156101409CV2291362single nucleotide variantNM_022134.3(GAL3ST2):c.698C>G (p.Ser233Cys)not specified [RCV004162049]uncertain significance2241803667241803667Humanname
155944393CV2295139single nucleotide variantNM_022134.3(GAL3ST2):c.473C>T (p.Ala158Val)not specified [RCV004156237]likely benign2241803442241803442Humanname
156289037CV2370737single nucleotide variantNM_022134.3(GAL3ST2):c.799G>A (p.Glu267Lys)not specified [RCV004209136]uncertain significance2241803768241803768Humanname
155903828CV2386631single nucleotide variantNM_022134.3(GAL3ST2):c.793T>G (p.Ser265Ala)not specified [RCV004230973]likely benign2241803762241803762Humanname
155955565CV2389980single nucleotide variantNM_022134.3(GAL3ST2):c.623G>C (p.Gly208Ala)not specified [RCV004238230]uncertain significance2241803592241803592Humanname
329355984CV2434378single nucleotide variantNM_022134.3(GAL3ST2):c.316G>A (p.Val106Met)not specified [RCV004252044]uncertain significance2241801977241801977Humanname
329377462CV2462644single nucleotide variantNM_022134.3(GAL3ST2):c.442G>A (p.Glu148Lys)not specified [RCV004278583]uncertain significance2241803411241803411Humanname
401771344CV2675557single nucleotide variantNM_022134.3(GAL3ST2):c.932G>T (p.Arg311Leu)not specified [RCV004295171]uncertain significance2241803901241803901Humanname
401890030CV2758488single nucleotide variantNM_022134.3(GAL3ST2):c.682G>A (p.Glu228Lys)not specified [RCV004335134]uncertain significance2241803651241803651Humanname
401889761CV2763374single nucleotide variantNM_022134.3(GAL3ST2):c.938G>A (p.Arg313Gln)not specified [RCV004349265]uncertain significance2241803907241803907Humanname
401885587CV2768276single nucleotide variantNM_022134.3(GAL3ST2):c.550C>G (p.Leu184Val)not specified [RCV004350265]uncertain significance2241803519241803519Humanname
405733351CV3254297single nucleotide variantNM_022134.3(GAL3ST2):c.301C>T (p.Arg101Cys)not specified [RCV004390304]uncertain significance2241801962241801962Humanname
405733361CV3254298single nucleotide variantNM_022134.3(GAL3ST2):c.382A>G (p.Lys128Glu)not specified [RCV004390305]uncertain significance2241803351241803351Humanname
405733368CV3254299single nucleotide variantNM_022134.3(GAL3ST2):c.913G>T (p.Gly305Trp)not specified [RCV004390306]uncertain significance2241803882241803882Humanname
405733376CV3254300single nucleotide variantNM_022134.3(GAL3ST2):c.962G>A (p.Cys321Tyr)not specified [RCV004390307]uncertain significance2241803931241803931Humanname
405733382CV3254301single nucleotide variantNM_022134.3(GAL3ST2):c.982C>T (p.Leu328Phe)not specified [RCV004390308]uncertain significance2241803951241803951Humanname
405733394CV3254303single nucleotide variantNM_022134.3(GAL3ST2):c.992A>C (p.His331Pro)not specified [RCV004390310]uncertain significance2241803961241803961Humanname
407486551CV3436165single nucleotide variantNM_022134.3(GAL3ST2):c.313G>A (p.Gly105Ser)not specified [RCV004619138]uncertain significance2241801974241801974Humanname
407486557CV3436166single nucleotide variantNM_022134.3(GAL3ST2):c.703G>C (p.Val235Leu)not specified [RCV004619139]uncertain significance2241803672241803672Humanname
597753531CV3673467single nucleotide variantNM_022134.3(GAL3ST2):c.886G>A (p.Ala296Thr)not specified [RCV004924157]uncertain significance2241803855241803855Humanname
597753534CV3673468single nucleotide variantNM_022134.3(GAL3ST2):c.725G>C (p.Arg242Pro)not specified [RCV004924158]uncertain significance2241803694241803694Humanname
597753539CV3673469single nucleotide variantNM_022134.3(GAL3ST2):c.866C>T (p.Thr289Ile)not specified [RCV004924159]uncertain significance2241803835241803835Humanname
597753548CV3673471single nucleotide variantNM_022134.3(GAL3ST2):c.679G>A (p.Ala227Thr)not specified [RCV004924161]uncertain significance2241803648241803648Humanname
598202382CV3977543single nucleotide variantNM_022134.3(GAL3ST2):c.694G>A (p.Glu232Lys)not specified [RCV005337088]uncertain significance2241803663241803663Humanname
598202389CV3977544single nucleotide variantNM_022134.3(GAL3ST2):c.784G>A (p.Ala262Thr)not specified [RCV005337089]likely benign2241803753241803753Humanname
598202394CV3977545single nucleotide variantNM_022134.3(GAL3ST2):c.731C>T (p.Ala244Val)not specified [RCV005337090]uncertain significance2241803700241803700Humanname
598202401CV3977546single nucleotide variantNM_022134.3(GAL3ST2):c.806G>A (p.Arg269Gln)not specified [RCV005337091]likely benign2241803775241803775Humanname
598202405CV3977547single nucleotide variantNM_022134.3(GAL3ST2):c.772G>A (p.Ala258Thr)not specified [RCV005337092]uncertain significance2241803741241803741Humanname
598202412CV3977548single nucleotide variantNM_022134.3(GAL3ST2):c.725G>A (p.Arg242His)not specified [RCV005337093]uncertain significance2241803694241803694Humanname
598202417CV3977549single nucleotide variantNM_022134.3(GAL3ST2):c.498C>A (p.Ser166Arg)not specified [RCV005337094]uncertain significance2241803467241803467Humanname
598202427CV3977551single nucleotide variantNM_022134.3(GAL3ST2):c.578T>C (p.Met193Thr)not specified [RCV005337096]uncertain significance2241803547241803547Humanname
598158817CV3977552single nucleotide variantNM_022134.3(GAL3ST2):c.427C>G (p.Pro143Ala)not specified [RCV005328137]uncertain significance2241803396241803396Humanname
155968628CV2244281single nucleotide variantNM_022134.3(GAL3ST2):c.1129A>C (p.Met377Leu)not specified [RCV004100274]uncertain significance2241804098241804098Humanname
329355865CV2430515single nucleotide variantNM_022134.3(GAL3ST2):c.1157C>G (p.Pro386Arg)not specified [RCV004252101]uncertain significance2241804126241804126Humanname
405733310CV3254292single nucleotide variantNM_022134.3(GAL3ST2):c.1040C>T (p.Ala347Val)not specified [RCV004390299]uncertain significance2241804009241804009Humanname
405733321CV3254293single nucleotide variantNM_022134.3(GAL3ST2):c.1059C>A (p.Asn353Lys)not specified [RCV004390300]uncertain significance2241804028241804028Humanname
405733328CV3254294single nucleotide variantNM_022134.3(GAL3ST2):c.1124A>G (p.Gln375Arg)not specified [RCV004390301]uncertain significance2241804093241804093Humanname
405733335CV3254295single nucleotide variantNM_022134.3(GAL3ST2):c.1163A>C (p.Lys388Thr)not specified [RCV004390302]uncertain significance2241804132241804132Humanname
405733344CV3254296single nucleotide variantNM_022134.3(GAL3ST2):c.1181C>G (p.Pro394Arg)not specified [RCV004390303]uncertain significance2241804150241804150Humanname
407486526CV3436161single nucleotide variantNM_022134.3(GAL3ST2):c.1022C>T (p.Pro341Leu)not specified [RCV004619134]uncertain significance2241803991241803991Humanname
407486865CV3436163single nucleotide variantNM_022134.3(GAL3ST2):c.1019G>A (p.Arg340His)not specified [RCV004619136]uncertain significance2241803988241803988Humanname
407486544CV3436164single nucleotide variantNM_022134.3(GAL3ST2):c.1008C>A (p.Asp336Glu)not specified [RCV004619137]uncertain significance2241803977241803977Humanname
598202421CV3977550single nucleotide variantNM_022134.3(GAL3ST2):c.1157C>T (p.Pro386Leu)not specified [RCV005337095]uncertain significance2241804126241804126Humanname
598202432CV3977553single nucleotide variantNM_022134.3(GAL3ST2):c.1113G>A (p.Met371Ile)not specified [RCV005337097]uncertain significance2241804082241804082Humanname