All variants in the GALNS gene

Information The variants shown are described using the transcript reference sequence.

95 entries on 1 page. Showing entries 1 - 95.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Clinical classification     

DNA change (genomic) (hg19)     

Reference     

DB-ID     

Owner     
./. - c.-70_319del r.? p.? pathogenic g.88908305_88923355del - GALNS_000057 Variome.ir
+/+ - c.29G>A r.(?) p.(Trp10*) pathogenic g.88923257C>T - GALNS_000025 Variome.ir
+/+ - c.29G>A r.(?) p.(Trp10*) pathogenic g.88923257C>T - GALNS_000025 Variome.ir
./. - c.29G>A r.(?) p.(Trp10*) pathogenic g.88923257C>T - GALNS_000025 Variome.ir
./. - c.83dupC r.(?) p.(Gln29Alafs*17) likely pathogenic g.88923203dupG - GALNS_000041 Variome.ir
./. - c.84del r.(?) p.(Gln29Serfs*100) pathogenic g.88923202del - GALNS_000006 Variome.ir
./. - c.85C>T r.(?) p.(Gln29*) pathogenic g.88923201G>A - GALNS_000049 Variome.ir
./. - c.95A>C r.(?) p.(Asn32Thr) likely pathogenic g.88923191T>G - GALNS_000048 Variome.ir
./. - c.107T>G r.(?) p.(Leu36Arg) likely pathogenic g.88923179A>C - GALNS_000054 Variome.ir
./. - c.120+1G>C r.spl? p.? pathogenic g.88923165C>G - GALNS_000033 Variome.ir
./. - c.120+1G>C r.spl? p.? pathogenic g.88923165C>G - GALNS_000033 Variome.ir
./. - c.121A>T r.(?) p.(Met41Leu) pathogenic g.88909237T>A - GALNS_000051 Variome.ir
+/+ - c.121_422del r.(?) p.(Met41Alafs*16) pathogenic g.88907400_88909237del - GALNS_000029 Variome.ir
./. - c.139G>A r.(?) p.(Gly47Arg) pathogenic g.88909219C>T - GALNS_000038 Variome.ir
+/+ - c.139G>A r.(?) p.(Gly47Arg) pathogenic g.88909219C>T - GALNS_000038 Variome.ir
./+ - c.148G>A r.(?) p.(Gly50Arg) likely pathogenic g.88909210C>T - GALNS_000010 Variome.ir
./. - c.230C>G r.(?) p.(Pro77Arg) likely pathogenic g.88909128G>C - GALNS_000037 Variome.ir
./. - c.230C>G r.(?) p.(Pro77Arg) pathogenic g.88909128G>C - GALNS_000037 Variome.ir
./. - c.230delC r.(?) p.(Pro77Leufs*52) pathogenic g.88909128delG - GALNS_000061 Variome.ir
./. - c.244T>C r.(?) p.(Ser82Pro) pathogenic g.88909114A>G - GALNS_000047 Variome.ir
./. - c.263C>T r.(?) p.(Thr88Ile) likely pathogenic g.88908361G>A - GALNS_000058 Variome.ir
./. - c.266G>A r.(?) p.(Gly89Glu) likely pathogenic g.88908358C>T - GALNS_000044 Variome.ir
./. - c.284delA r.(?) p.(Asn95Metfs*34) pathogenic g.88908340delT - GALNS_000034 Variome.ir
./+ - c.313A>G r.(?) p.(Arg105Gly) likely pathogenic g.88908311T>C - GALNS_000012 Variome.ir
./. - c.319G>A r.(?) p.(Ala107Thr) pathogenic g.88908305C>T - GALNS_000003 Variome.ir
+/+ - c.319G>A r.(?) p.(Ala107Thr) pathogenic g.88908305C>T - GALNS_000003 Variome.ir
./. - c.319G>A r.(?) p.(Ala107Thr) pathogenic g.88908305C>T - GALNS_000003 Variome.ir
./+ - c.319G>A r.(?) p.(Ala107Thr) pathogenic g.88908305C>T - GALNS_000003 Variome.ir
./. - c.326C>T r.(?) p.(Thr109Ile) likely pathogenic g.88907496G>A - GALNS_000031 Variome.ir
./. - c.346G>A r.(?) p.(Gly116Ser) pathogenic g.88907476C>T - GALNS_000026 Variome.ir
./. - c.346G>A r.(?) p.(Gly116Ser) pathogenic g.88907476C>T - GALNS_000026 Variome.ir
./. - c.346G>A r.(?) p.(Gly116Ser) pathogenic g.88907476C>T - GALNS_000026 Variome.ir
./. - c.374C>T r.(?) p.(Pro125Leu) pathogenic g.88907448G>A - GALNS_000039 Variome.ir
./. - c.374C>T r.(?) p.(Pro125Leu) pathogenic g.88907448G>A - GALNS_000039 Variome.ir
./. - c.416G>A r.(?) p.(Gly139Asp) likely pathogenic g.88907406C>T - GALNS_000067 Variome.ir
./. - c.421T>A r.(?) p.(Trp141Arg) pathogenic g.88907401A>T - GALNS_000019 Variome.ir
+/+ - c.421T>A r.(?) p.(Trp141Arg) pathogenic g.88907401A>T - GALNS_000019 Variome.ir
./+ - c.423-7_898+45del r.(?) p.(His142Trpfs*15) pathogenic g.88901576_88904180del - GALNS_000002 Variome.ir
./. - c.424_565del r.(?) p.(His142Aspfs*10) pathogenic g.88904031_88904172del - GALNS_000028 Variome.ir
+/+ - c.424_565del r.(?) p.(His142Aspfs*10) pathogenic g.88904031_88904172del - GALNS_000030 Variome.ir
+/+ - c.442C>T r.(?) p.(Gln148*) pathogenic g.88904154G>A - GALNS_000008 Variome.ir
./. - c.535C>T r.(?) p.(Pro179Ser) pathogenic g.88904061G>A - GALNS_000064 Variome.ir
./+ - c.542A>G r.(?) p.(Tyr181Cys) pathogenic g.88904054T>C - GALNS_000005 Variome.ir
./. - c.542A>G r.(?) p.(Tyr181Cys) likely pathogenic g.88904054T>C - GALNS_000005 Variome.ir
./+ - c.542A>G r.(?) p.(Tyr181Cys) likely pathogenic g.88904054T>C - GALNS_000005 Variome.ir
./. - c.602G>A r.(?) p.(Gly201Glu) likely pathogenic g.88902640C>T - GALNS_000011 Variome.ir
./. - c.602G>A r.(?) p.(Gly201Glu) likely pathogenic g.88902640C>T - GALNS_000011 Variome.ir
./. - c.609delC r.(?) p.(Asn204Thrfs*115) pathogenic g.88902633delG - GALNS_000032 Variome.ir
+/+ - c.647T>C r.(?) p.(Phe216Ser) pathogenic g.88902244A>G - GALNS_000018 Variome.ir
./. - c.680del r.(?) p.(Phe227Serfs*92) pathogenic g.88902211del - GALNS_000023 Variome.ir
./. - c.680T>C r.(?) p.(Phe227Ser) likely pathogenic g.88902211A>G - GALNS_000059 Variome.ir
./. - c.688T>C r.(?) p.(Trp230Arg) likely pathogenic g.88902203A>G - GALNS_000052 Variome.ir
./. - c.722C>A r.(?) p.(Ala241Asp) likely pathogenic g.88902169G>T - GALNS_000020 Variome.ir
+/+ - c.860C>T r.(?) p.(Ser287Leu) pathogenic g.88901659G>A - GALNS_000014 Variome.ir
./. - c.860C>T r.(?) p.(Ser287Leu) pathogenic g.88901659G>A - GALNS_000014 Variome.ir
./. - c.860C>T r.(?) p.(Ser287Leu) pathogenic g.88901659G>A - GALNS_000014 Variome.ir
./. - c.860C>T r.(?) p.(Ser287Leu) pathogenic g.88901659G>A - GALNS_000014 Variome.ir
./. - c.860C>T r.(?) p.(Ser287Leu) pathogenic g.88901659G>A - GALNS_000014 Variome.ir
./+ - c.860C>T r.(?) p.(Ser287Leu) pathogenic g.88901659G>A - GALNS_000014 Variome.ir
+/+ - c.866A>G r.(?) p.(Asn289Ser) likely pathogenic g.88901653T>C - GALNS_000001 Variome.ir
./+ - c.868G>A r.(?) p.(Gly290Ser) pathogenic g.88901651C>T - GALNS_000013 Variome.ir
./. - c.869G>C r.(?) p.(Gly290Ala) likely pathogenic g.88901650C>G - GALNS_000045 Variome.ir
./+ - c.916T>G r.(?) p.(Phe306Val) likely pathogenic g.88898492A>C - GALNS_000004 Variome.ir
./+ - c.934A>G r.(?) p.(Thr312Ala) likely pathogenic g.88898474T>C - GALNS_000017 Variome.ir
./. - c.941T>C r.(?) p.(Phe314Ser) likely pathogenic g.88898467A>G - GALNS_000009 Variome.ir
./. - c.947G>A r.(?) p.(Gly316Glu) likely pathogenic g.88898461C>T - GALNS_000024 Variome.ir
./. - c.949G>C r.(?) p.(Gly317Arg) likely pathogenic g.88898459C>G - GALNS_000060 Variome.ir
./. - c.956G>C r.(?) p.(Arg319Thr) likely pathogenic g.88898452C>G - GALNS_000053 Variome.ir
./. - c.956G>C r.(?) p.(Arg319Thr) likely pathogenic g.88898452C>G - GALNS_000053 Variome.ir
./+ - c.965C>T r.(?) p.(Ala322Val) likely pathogenic g.88898443G>A - GALNS_000027 Variome.ir
./. - c.965C>T r.(?) p.(Ala322Val) likely pathogenic g.88898443G>A - GALNS_000027 Variome.ir
./. - c.965C>T r.(?) p.(Ala322Val) likely pathogenic g.88898443G>A - GALNS_000027 Variome.ir
./. - c.974G>A r.(?) p.(Trp325*) pathogenic g.88898434C>T - GALNS_000065 Variome.ir
./. - c.1002+1G>A r.spl? p.? pathogenic g.88898405C>T - GALNS_000055 Variome.ir
./. - c.1019G>A r.(?) p.(Gly340Asp) likely pathogenic g.88893230C>T - GALNS_000046 Variome.ir
+/+ - c.1019G>A r.(?) p.(Gly340Asp) pathogenic g.88893230C>T - GALNS_000046 Variome.ir
./. - c.1042A>G r.(?) p.(Thr348Ala) likely pathogenic g.88893207T>C - GALNS_000042 Variome.ir
./. - c.1042A>G r.(?) p.(Thr348Ala) likely pathogenic g.88893207T>C - GALNS_000042 Variome.ir
./. - c.1042A>G r.(?) p.(Thr348Ala) likely pathogenic g.88893207T>C - GALNS_000042 Variome.ir
./. - c.1042A>G r.(?) p.(Thr348Ala) likely pathogenic g.88893207T>C - GALNS_000042 Variome.ir
./. - c.1073C>T r.(?) p.(Pro358Leu) likely pathogenic g.88893176G>A - GALNS_000035 Variome.ir
./. - c.1156C>T r.(?) p.(Arg386Cys) likely pathogenic g.88891261G>A - GALNS_000036 Variome.ir
./. - c.1157G>A r.(?) p.(Arg386His) likely pathogenic g.88891260C>T - GALNS_000022 Variome.ir
./+ - c.1219A>C r.(?) p.(Asn407His) pathogenic g.88891198T>G - GALNS_000040 Variome.ir
./. - c.1259C>G r.(?) p.(Pro420Arg) likely pathogenic g.88889102G>C - GALNS_000015 Variome.ir
./. - c.1259C>G r.(?) p.(Pro420Arg) likely pathogenic g.88889102G>C - GALNS_000015 Variome.ir
./. - c.1265A>G r.(?) p.(Gln422Arg) VUS g.88889096T>C - GALNS_000066 Variome.ir
./+ - c.1279del r.(?) p.(Val427Serfs*14) likely pathogenic g.88889082del - GALNS_000007 Variome.ir
./. - c.1365_1482del r.(?) p.(Ser455Argfs*11) pathogenic g.88884415_88884532del - GALNS_000056 Variome.ir
./. - c.1480A>G r.(?) p.(Met494Val) likely pathogenic g.88884417T>C - GALNS_000050 Variome.ir
./. - c.1482+1G>A r.spl? p.? pathogenic g.88884414C>T - GALNS_000043 Variome.ir
./. - c.1493C>T r.(?) p.(Pro498Leu) likely pathogenic g.88880923G>A - GALNS_000062 Variome.ir
./. - c.1496C>T r.(?) p.(Pro499Leu) likely pathogenic g.88880920G>A - GALNS_000063 Variome.ir
./. - c.1519T>C r.(?) p.(Cys507Arg) likely pathogenic g.88880897A>G - GALNS_000016 Variome.ir
./. - c.1568A>G r.(?) p.(*523Trpext*92) VUS g.88880848T>C - GALNS_000021 Variome.ir
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