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


78 records found for search term Hs6st2
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RGD IDSymbolVariant TypeNameTraitClinical SignificanceChrStartStopSpeciesAnnotationsMatch
616933723CV4011685duplicationNM_001394073.1(HS6ST2):c.980+4dupnot specified [RCV005408234]uncertain significanceX132708457132708458Humanname
8587181CV121808single nucleotide variantNM_001077188.1(HS6ST2):c.948-50482G>TLung cancer [RCV000102328]uncertain significanceX132758976132758976Humanname
8587180CV121807single nucleotide variantNM_001077188.1(HS6ST2):c.1067+15305C>TLung cancer [RCV000102327]uncertain significanceX132653808132653808Humanname
405287116CV3210552deletionNM_001394073.1(HS6ST2):c.23del (p.Val8fs)HS6ST2-related disorder [RCV003924332]benignX132958580132958580Humanname , trait , alternate_id
156068524CV2237056single nucleotide variantNM_001394073.1(HS6ST2):c.16T>C (p.Cys6Arg)not specified [RCV004114819]uncertain significanceX132958587132958587Humanname
401929451CV2824027single nucleotide variantNM_001394073.1(HS6ST2):c.237G>A (p.Ala79=)not provided [RCV003439859]likely benignX132958366132958366Humanname
405288603CV3193710single nucleotide variantNM_001394073.1(HS6ST2):c.14C>A (p.Ala5Glu)HS6ST2-related disorder [RCV003982716]uncertain significanceX132958589132958589Humanname , trait , alternate_id
405866636CV3401041single nucleotide variantNM_001394073.1(HS6ST2):c.18T>A (p.Cys6Ter)Paganini-Miozzo syndrome [RCV004577157]uncertain significanceX132958585132958585Human1name
596921905CV3535533single nucleotide variantNM_001394073.1(HS6ST2):c.25C>T (p.Arg9Trp)Paganini-Miozzo syndrome [RCV004785088]uncertain significanceX132958578132958578Human1name
597773718CV3689614single nucleotide variantNM_001394073.1(HS6ST2):c.22G>T (p.Val8Phe)not specified [RCV004928962]uncertain significanceX132958581132958581Humanname
401777151CV2730160single nucleotide variantNM_001394073.1(HS6ST2):c.89G>T (p.Arg30Leu)not provided [RCV003436016]|not specified [RCV004332444]likely benign|uncertain significanceX132958514132958514Humanname
401929448CV2824026single nucleotide variantNM_001394073.1(HS6ST2):c.687C>T (p.Ile229=)not provided [RCV003439858]likely benignX132957068132957068Humanname
598255518CV3972040single nucleotide variantNM_001394073.1(HS6ST2):c.41C>T (p.Pro14Leu)not specified [RCV005346574]uncertain significanceX132958562132958562Humanname
598255538CV3972044single nucleotide variantNM_001394073.1(HS6ST2):c.50C>A (p.Pro17Gln)not specified [RCV005346578]uncertain significanceX132958553132958553Humanname
15167489CV729414single nucleotide variantNM_001394073.1(HS6ST2):c.975A>G (p.Ala325=)Paganini-Miozzo syndrome [RCV002507561]|not provided [RCV000882857]benign|likely benignX132708467132708467Human1name
15187856CV729415single nucleotide variantNM_001394073.1(HS6ST2):c.321G>T (p.Leu107=)not provided [RCV000887369]benignX132958282132958282Humanname
42723804CV984713single nucleotide variantNM_001394073.1(HS6ST2):c.67G>T (p.Val23Phe)Paganini-Miozzo syndrome [RCV001291830]uncertain significanceX132958536132958536Human1name
401929442CV2824024single nucleotide variantNM_001394073.1(HS6ST2):c.1011C>T (p.Asn337=)not provided [RCV003439856]likely benignX132669169132669169Humanname
405255734CV3210840single nucleotide variantNM_001394073.1(HS6ST2):c.146C>T (p.Ser49Leu)HS6ST2-related disorder [RCV003939346]benignX132958457132958457Humanname , trait , alternate_id
405803350CV3274090single nucleotide variantNM_001394073.1(HS6ST2):c.254C>T (p.Pro85Leu)not specified [RCV004404397]uncertain significanceX132958349132958349Humanname
597773714CV3689613single nucleotide variantNM_001394073.1(HS6ST2):c.196C>A (p.Pro66Thr)not specified [RCV004928961]uncertain significanceX132958407132958407Humanname
597773722CV3689615single nucleotide variantNM_001394073.1(HS6ST2):c.137T>G (p.Val46Gly)not specified [RCV004928963]uncertain significanceX132958466132958466Humanname
15169405CV706105single nucleotide variantNM_001394073.1(HS6ST2):c.152G>T (p.Arg51Leu)HS6ST2-related disorder [RCV003970700]|not provided [RCV000949451]benignX132958451132958451Human1name , trait , alternate_id
38468181CV920998single nucleotide variantNM_001394073.1(HS6ST2):c.1878G>A (p.Gln626=)not provided [RCV001200548]likely benignX132628283132628283Humanname
42723803CV984712single nucleotide variantNM_001394073.1(HS6ST2):c.155C>T (p.Ala52Val)Paganini-Miozzo syndrome [RCV001291828]uncertain significanceX132958448132958448Human1name
126740902CV1018910single nucleotide variantNM_001394073.1(HS6ST2):c.652A>C (p.Lys218Gln)Paganini-Miozzo syndrome [RCV001329557]|not specified [RCV004035679]uncertain significanceX132957103132957103Human1name
150453116CV1203736single nucleotide variantNM_001394073.1(HS6ST2):c.322G>A (p.Gly108Ser)Paganini-Miozzo syndrome [RCV001591692]uncertain significanceX132958281132958281Human1name
156360858CV2269124single nucleotide variantNM_001394073.1(HS6ST2):c.994G>T (p.Gly332Cys)not specified [RCV004130298]uncertain significanceX132669186132669186Humanname
155997016CV2288571single nucleotide variantNM_001394073.1(HS6ST2):c.836C>G (p.Ser279Cys)not specified [RCV004152093]uncertain significanceX132956919132956919Humanname
156060011CV2317023single nucleotide variantNM_001394073.1(HS6ST2):c.687C>G (p.Ile229Met)not specified [RCV004174520]uncertain significanceX132957068132957068Humanname
329393075CV2469277single nucleotide variantNM_001394073.1(HS6ST2):c.572C>G (p.Pro191Arg)not specified [RCV004280614]likely benignX132957183132957183Humanname
401717909CV2724959single nucleotide variantNM_001394073.1(HS6ST2):c.604G>T (p.Ala202Ser)not specified [RCV004319723]uncertain significanceX132957151132957151Humanname
401728981CV2729938single nucleotide variantNM_001394073.1(HS6ST2):c.568G>A (p.Val190Met)not specified [RCV004332936]likely benignX132957187132957187Humanname
401867953CV2749085single nucleotide variantNM_001394073.1(HS6ST2):c.536A>G (p.Gln179Arg)not specified [RCV003331911]uncertain significanceX132957219132957219Humanname
401888489CV2785020single nucleotide variantNM_001394073.1(HS6ST2):c.941C>G (p.Pro314Arg)HS6ST2-related disorder [RCV004757585]|not specified [RCV004355039]uncertain significanceX132956814132956814Human1name , trait , alternate_id
401929444CV2824025single nucleotide variantNM_001394073.1(HS6ST2):c.917G>C (p.Gly306Ala)not provided [RCV003439857]uncertain significanceX132956838132956838Humanname
405803352CV3274091single nucleotide variantNM_001394073.1(HS6ST2):c.353G>A (p.Gly118Asp)not specified [RCV004404398]uncertain significanceX132958250132958250Humanname
405803353CV3274092single nucleotide variantNM_001394073.1(HS6ST2):c.384C>G (p.His128Gln)not specified [RCV004404399]uncertain significanceX132958219132958219Humanname
405803355CV3274093single nucleotide variantNM_001394073.1(HS6ST2):c.643C>G (p.Leu215Val)not specified [RCV004404400]uncertain significanceX132957112132957112Humanname
405803357CV3274094single nucleotide variantNM_001394073.1(HS6ST2):c.905C>T (p.Ser302Phe)not specified [RCV004404401]uncertain significanceX132956850132956850Humanname
405803359CV3274095single nucleotide variantNM_001394073.1(HS6ST2):c.992G>A (p.Arg331Gln)not specified [RCV004404402]uncertain significanceX132669188132669188Humanname
405853535CV3392828single nucleotide variantNM_001394073.1(HS6ST2):c.727G>A (p.Gly243Ser)not specified [RCV004526554]uncertain significanceX132957028132957028Humanname
407458135CV3433975single nucleotide variantNM_001394073.1(HS6ST2):c.915C>A (p.Asp305Glu)not specified [RCV004633155]uncertain significanceX132956840132956840Humanname
597773697CV3689610single nucleotide variantNM_001394073.1(HS6ST2):c.318C>A (p.Asp106Glu)not specified [RCV004928958]uncertain significanceX132958285132958285Humanname
597773945CV3689611single nucleotide variantNM_001394073.1(HS6ST2):c.811G>C (p.Gly271Arg)not specified [RCV004928959]uncertain significanceX132956944132956944Humanname
597773707CV3689612single nucleotide variantNM_001394073.1(HS6ST2):c.565C>G (p.Pro189Ala)not specified [RCV004928960]uncertain significanceX132957190132957190Humanname
598255533CV3972043single nucleotide variantNM_001394073.1(HS6ST2):c.386T>C (p.Val129Ala)not specified [RCV005346577]uncertain significanceX132958217132958217Humanname
14696304CV622129single nucleotide variantNM_001394073.1(HS6ST2):c.916G>C (p.Gly306Arg)Paganini-Miozzo syndrome [RCV000782268]pathogenicX132956839132956839Human1name
150436584CV1275199single nucleotide variantNM_001394073.1(HS6ST2):c.1853C>T (p.Pro618Leu)Paganini-Miozzo syndrome [RCV001702354]likely benignX132628308132628308Human1name
151349914CV1324529single nucleotide variantNM_001394073.1(HS6ST2):c.1182G>C (p.Arg394Ser)Paganini-Miozzo syndrome [RCV001808974]uncertain significanceX132628979132628979Human1name
155741222CV1779874single nucleotide variantNM_001394073.1(HS6ST2):c.1742C>T (p.Pro581Leu)not provided [RCV003387543]|not specified [RCV002302478]uncertain significanceX132628419132628419Humanname
156398886CV2194845single nucleotide variantNM_001394073.1(HS6ST2):c.1241C>A (p.Pro414His)Paganini-Miozzo syndrome [RCV005399159]|not specified [RCV004075380]benign|uncertain significanceX132628920132628920Human1name
155968241CV2216993single nucleotide variantNM_001394073.1(HS6ST2):c.1064G>A (p.Gly355Glu)not specified [RCV004085354]uncertain significanceX132669116132669116Humanname
156241415CV2246103single nucleotide variantNM_001394073.1(HS6ST2):c.1788C>G (p.Asn596Lys)not specified [RCV004114007]uncertain significanceX132628373132628373Humanname
155971403CV2309296single nucleotide variantNM_001394073.1(HS6ST2):c.1220G>A (p.Gly407Asp)not specified [RCV004165458]uncertain significanceX132628941132628941Humanname
156078427CV2318731single nucleotide variantNM_001394073.1(HS6ST2):c.1575G>T (p.Met525Ile)not specified [RCV004175664]uncertain significanceX132628586132628586Humanname
156246997CV2357023single nucleotide variantNM_001394073.1(HS6ST2):c.1640A>C (p.His547Pro)not specified [RCV004206828]uncertain significanceX132628521132628521Humanname
155991102CV2384127single nucleotide variantNM_001394073.1(HS6ST2):c.1692G>C (p.Arg564Ser)not specified [RCV004227531]uncertain significanceX132628469132628469Humanname
243060038CV2407787single nucleotide variantNM_001394073.1(HS6ST2):c.1331A>G (p.Asn444Ser)Paganini-Miozzo syndrome [RCV003135621]uncertain significanceX132628830132628830Human1name
329374829CV2431062single nucleotide variantNM_001394073.1(HS6ST2):c.1226A>G (p.Asp409Gly)not specified [RCV004250430]uncertain significanceX132628935132628935Humanname
329365844CV2441155single nucleotide variantNM_001394073.1(HS6ST2):c.1843C>T (p.Arg615Trp)not specified [RCV004263554]uncertain significanceX132628318132628318Humanname
401758478CV2694123single nucleotide variantNM_001394073.1(HS6ST2):c.1844G>A (p.Arg615Gln)not specified [RCV004302553]uncertain significanceX132628317132628317Humanname
401775211CV2709863single nucleotide variantNM_001394073.1(HS6ST2):c.1339G>C (p.Val447Leu)not provided [RCV003436011]|not specified [RCV004321160]likely benign|uncertain significanceX132628822132628822Humanname
401856969CV2765148single nucleotide variantNM_001394073.1(HS6ST2):c.1058A>G (p.Lys353Arg)not specified [RCV004339681]uncertain significanceX132669122132669122Humanname
401879304CV2773007single nucleotide variantNM_001394073.1(HS6ST2):c.1681C>A (p.Leu561Met)not specified [RCV004351459]uncertain significanceX132628480132628480Humanname
401929439CV2824023single nucleotide variantNM_001394073.1(HS6ST2):c.1406C>T (p.Ala469Val)not provided [RCV003439855]uncertain significanceX132628755132628755Humanname
405260130CV3190177single nucleotide variantNM_001394073.1(HS6ST2):c.1666G>A (p.Glu556Lys)HS6ST2-related disorder [RCV003894579]uncertain significanceX132628495132628495Humanname , trait , alternate_id
405276663CV3206816single nucleotide variantNM_001394073.1(HS6ST2):c.1531G>A (p.Glu511Lys)HS6ST2-related disorder [RCV003917245]benignX132628630132628630Humanname , trait , alternate_id
405283898CV3213397single nucleotide variantNM_001394073.1(HS6ST2):c.1648G>T (p.Ala550Ser)HS6ST2-related disorder [RCV003921984]likely benignX132628513132628513Humanname , trait , alternate_id
405803344CV3274087single nucleotide variantNM_001394073.1(HS6ST2):c.1045C>T (p.Arg349Trp)not specified [RCV004404394]uncertain significanceX132669135132669135Humanname
405803348CV3274089single nucleotide variantNM_001394073.1(HS6ST2):c.1538T>C (p.Ile513Thr)not specified [RCV004404396]uncertain significanceX132628623132628623Humanname
405872226CV3398320single nucleotide variantNM_001394073.1(HS6ST2):c.1619A>G (p.Gln540Arg)not provided [RCV004575321]uncertain significanceX132628542132628542Humanname
598255523CV3972041single nucleotide variantNM_001394073.1(HS6ST2):c.1720G>A (p.Gly574Ser)not specified [RCV005346575]likely benignX132628441132628441Humanname
598255527CV3972042single nucleotide variantNM_001394073.1(HS6ST2):c.1260C>A (p.Asp420Glu)not specified [RCV005346576]uncertain significanceX132628901132628901Humanname
28889206CV860786single nucleotide variantNM_001394073.1(HS6ST2):c.1481C>T (p.Ser494Leu)not provided [RCV001092158]uncertain significanceX132628680132628680Humanname
34890597CV904717single nucleotide variantNM_001394073.1(HS6ST2):c.1724A>G (p.Gln575Arg)not provided [RCV001171646]uncertain significanceX132628437132628437Humanname
8637757CV92983single nucleotide variantNM_001394073.1(HS6ST2):c.1655G>A (p.Arg552Gln)not specified [RCV004928957]uncertain significance|not providedX132628506132628506Humanname
8637758CV92984single nucleotide variantNM_001077188.1(HS6ST2):c.1257G>A (p.Met419Ile)Malignant melanoma [RCV000073082]not providedX132628904132628904Humanname