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33 records found for search term Spata22
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RGD IDSymbolVariant TypeNameTraitClinical SignificanceChrStartStopSpeciesAnnotationsMatch
405264383CV3185311single nucleotide variantNM_001170698.2(SPATA22):c.233+8G>Anot provided [RCV003885875]uncertain significance1734626993462699Humanname
596922071CV3529599single nucleotide variantNM_001170698.2(SPATA22):c.900+1G>APremature ovarian failure 25 [RCV004776475]pathogenic1734431733443173Human1name
156202877CV2334792single nucleotide variantNM_001170698.2(SPATA22):c.58C>T (p.Pro20Ser)not specified [RCV004181908]uncertain significance1734675403467540Humanname
156156045CV2393404single nucleotide variantNM_001170698.2(SPATA22):c.41C>A (p.Ala14Glu)not specified [RCV004228902]uncertain significance1734692853469285Humanname
401913883CV2814711single nucleotide variantNM_001170698.2(SPATA22):c.915G>A (p.Pro305=)not provided [RCV003428058]likely benign1734403243440324Humanname
405005192CV2852757deletionNM_001170698.2(SPATA22):c.253del (p.Ser85fs)not provided [RCV003490906]pathogenic|uncertain significance1734625593462559Humanname
405789098CV3330172single nucleotide variantNM_001170698.2(SPATA22):c.59C>T (p.Pro20Leu)not specified [RCV004460199]uncertain significance1734675393467539Humanname
596922070CV3529598single nucleotide variantNM_001170698.2(SPATA22):c.31C>T (p.Arg11Ter)Premature ovarian failure 25 [RCV004776474]pathogenic1734692953469295Human1name
156258661CV2204675single nucleotide variantNM_001170698.2(SPATA22):c.160C>T (p.Pro54Ser)not specified [RCV004081778]uncertain significance1734674383467438Humanname
156075719CV2248268single nucleotide variantNM_001170698.2(SPATA22):c.223G>A (p.Val75Met)not specified [RCV004119437]likely benign1734627173462717Humanname
155966691CV2329828single nucleotide variantNM_001170698.2(SPATA22):c.146A>G (p.Asn49Ser)not specified [RCV004183289]likely benign1734674523467452Humanname
405789082CV3330168single nucleotide variantNM_001170698.2(SPATA22):c.134C>T (p.Thr45Ile)not specified [RCV004460195]uncertain significance1734674643467464Humanname
405789086CV3330169single nucleotide variantNM_001170698.2(SPATA22):c.290C>G (p.Ser97Cys)not specified [RCV004460196]uncertain significance1734625223462522Humanname
597766926CV3600881single nucleotide variantNM_001170698.2(SPATA22):c.109C>G (p.Leu37Val)not specified [RCV004870715]uncertain significance1734674893467489Humanname
597766937CV3600883single nucleotide variantNM_001170698.2(SPATA22):c.179C>T (p.Ala60Val)not specified [RCV004870717]uncertain significance1734627613462761Humanname
156335346CV2211450single nucleotide variantNM_001170698.2(SPATA22):c.761G>A (p.Arg254His)not specified [RCV004090677]uncertain significance1734465133446513Humanname
156262141CV2282456single nucleotide variantNM_001170698.2(SPATA22):c.748A>T (p.Met250Leu)not specified [RCV004133262]uncertain significance1734465263446526Humanname
156080298CV2384622single nucleotide variantNM_001170698.2(SPATA22):c.574G>A (p.Asp192Asn)not specified [RCV004232404]uncertain significance1734489053448905Humanname
156099196CV2392846single nucleotide variantNM_001170698.2(SPATA22):c.305C>G (p.Thr102Ser)not specified [RCV004247205]uncertain significance1734625073462507Humanname
401875506CV2766077single nucleotide variantNM_001170698.2(SPATA22):c.562A>G (p.Met188Val)not specified [RCV004340534]uncertain significance1734489173448917Humanname
405789090CV3330170single nucleotide variantNM_001170698.2(SPATA22):c.352A>G (p.Thr118Ala)not specified [RCV004460197]uncertain significance1734491273449127Humanname
405789094CV3330171single nucleotide variantNM_001170698.2(SPATA22):c.587C>T (p.Ala196Val)not specified [RCV004460198]uncertain significance1734488923448892Humanname
405789102CV3330173single nucleotide variantNM_001170698.2(SPATA22):c.739A>G (p.Ile247Val)not specified [RCV004460200]uncertain significance1734465353446535Humanname
405789110CV3330175single nucleotide variantNM_001170698.2(SPATA22):c.998C>T (p.Pro333Leu)not specified [RCV004460202]uncertain significance1734402413440241Humanname
596922069CV3529597single nucleotide variantNM_001170698.2(SPATA22):c.400C>T (p.Arg134Ter)Premature ovarian failure 25 [RCV004776473]|Spermatogenic failure 96 [RCV004776472]pathogenic1734490793449079Human2name
597766942CV3600884single nucleotide variantNM_001170698.2(SPATA22):c.356G>A (p.Ser119Asn)not specified [RCV004870718]uncertain significance1734491233449123Humanname
598261683CV3922722single nucleotide variantNM_001170698.2(SPATA22):c.382T>G (p.Phe128Val)not specified [RCV005280032]uncertain significance1734490973449097Humanname
598261689CV3922723single nucleotide variantNM_001170698.2(SPATA22):c.689A>T (p.Gln230Leu)not specified [RCV005280033]uncertain significance1734465853446585Humanname
598261694CV3922724single nucleotide variantNM_001170698.2(SPATA22):c.469C>G (p.Gln157Glu)not specified [RCV005280034]uncertain significance1734490103449010Humanname
598261704CV3922726single nucleotide variantNM_001170698.2(SPATA22):c.713G>C (p.Ser238Thr)not specified [RCV005280036]uncertain significance1734465613446561Humanname
401733055CV2712956single nucleotide variantNM_001170698.2(SPATA22):c.1067A>G (p.Tyr356Cys)not specified [RCV004314666]uncertain significance1734401723440172Humanname
597766932CV3600882single nucleotide variantNM_001170698.2(SPATA22):c.1001C>T (p.Ala334Val)not specified [RCV004870716]uncertain significance1734402383440238Humanname
598261699CV3922725single nucleotide variantNM_001170698.2(SPATA22):c.1020A>C (p.Lys340Asn)not specified [RCV005280035]uncertain significance1734402193440219Humanname