All variants in the NAGLU gene

Information The variants shown are described using the NM_000263.3 transcript reference sequence.

197 entries on 2 pages. Showing entries 1 - 100.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Classification method     

Clinical classification     

DNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Owner     
?/. 1 c.14C>T r.(?) p.(Ala5Val) - VUS g.40688304C>T g.42536286C>T - - NAGLU_000001 - - - - Germline/De novo (untested) - - - - - Dr. Alexandra Wey-Fabrizius
-?/. - c.94G>T r.(?) p.(Val32Leu) - likely benign g.40688384G>T - NAGLU(NM_000263.3):c.94G>T (p.(Val32Leu)) - NAGLU_000084 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+?/. 1 c.100G>C r.(?) p.(Ala34Pro) - likely pathogenic g.40688390G>C g.42536372G>C - - NAGLU_000002 - - - - Germline/De novo (untested) - - - - - Dr. Alexandra Wey-Fabrizius
+/. - c.112C>T r.(?) p.(Arg38Trp) - pathogenic g.40688402C>T g.42536384C>T - - NAGLU_000070 - - - - Unknown - - - - - IMGAG
+/. - c.112C>T r.(?) p.(Arg38Trp) - pathogenic (recessive) g.40688402C>T g.42536384C>T - - NAGLU_000070 - PubMed: Froukh 2020 - - Germline - - - - - Johan den Dunnen
-?/. - c.170C>G r.(?) p.(Ala57Gly) - likely benign g.40688460C>G g.42536442C>G NAGLU(NM_000263.3):c.170C>G (p.(Ala57Gly)), NAGLU(NM_000263.4):c.170C>G (p.A57G) - NAGLU_000047 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
?/. - c.170C>G r.(?) p.(Ala57Gly) - VUS g.40688460C>G g.42536442C>G NAGLU(NM_000263.3):c.170C>G (p.(Ala57Gly)), NAGLU(NM_000263.4):c.170C>G (p.A57G) - NAGLU_000047 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
?/. - c.170C>G r.(?) p.(Ala57Gly) - VUS g.40688460C>G - NAGLU(NM_000263.3):c.170C>G (p.(Ala57Gly)), NAGLU(NM_000263.4):c.170C>G (p.A57G) - NAGLU_000047 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. - c.187G>A r.(?) p.(Asp63Asn) - VUS g.40688477G>A g.42536459G>A NAGLU(NM_000263.3):c.187G>A (p.D63N) - NAGLU_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+?/. - c.192del r.(?) p.(Tyr65ThrfsTer57) - likely pathogenic (recessive) g.40688482del g.42536464del 192delC - NAGLU_000111 - PubMed: Pollard 2016 - - Germline - - - - - Johan den Dunnen
+?/. - c.208G>C r.(?) p.(Gly70Arg) - likely pathogenic (recessive) g.40688498G>C g.42536480G>C - - NAGLU_000112 - PubMed: Pollard 2016 - - Germline - - - - - Johan den Dunnen
+/. - c.214_237dup r.(?) p.(Ala72_Gly79dup) - pathogenic g.40688504_40688527dup g.42536486_42536509dup NAGLU(NM_000263.3):c.214_237dupGCGGCGCGCGTGCGGGTGCGCGGC (p.A72_G79dup) - NAGLU_000048 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+?/. - c.214_237dup r.(?) p.(Ala72_Gly79dup) - likely pathogenic (recessive) g.40688504_40688527dup g.42536486_42536509dup 214_237dup24 - NAGLU_000048 - PubMed: Pollard 2016 - - Germline - - - - - Johan den Dunnen
+/. - c.217_221dup r.(?) p.(Val75ArgfsTer49) - pathogenic g.40688507_40688511dup g.42536489_42536493dup NAGLU(NM_000263.3):c.217_221dupGCGCG (p.V75Rfs*49), NAGLU(NM_000263.4):c.217_221dupGCGCG (p.V75Rfs*49) - NAGLU_000049 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. - c.217_221dup r.(?) p.(Val75ArgfsTer49) - pathogenic g.40688507_40688511dup - NAGLU(NM_000263.3):c.217_221dupGCGCG (p.V75Rfs*49), NAGLU(NM_000263.4):c.217_221dupGCGCG (p.V75Rfs*49) - NAGLU_000049 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
+?/. - c.222_247del r.(?) p.(Val75GlyfsTer108) - likely pathogenic (recessive) g.40688512_40688537del g.42536494_42536519del 222_247del26 - NAGLU_000113 - PubMed: Pollard 2016 - - Germline - - - - - Johan den Dunnen
?/. - c.230T>G r.(?) p.(Val77Gly) - VUS g.40688520T>G - NAGLU(NM_000263.4):c.230T>G (p.V77G) - NAGLU_000100 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
+/. - c.245G>A r.(?) p.(Gly82Asp) - pathogenic g.40688535G>A g.42536517G>A NAGLU(NM_000263.4):c.245G>A (p.G82D) - NAGLU_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
+?/. - c.259G>C r.(?) p.(Ala87Pro) - likely pathogenic (recessive) g.40688549G>C g.42536531G>C - - NAGLU_000114 - PubMed: Pollard 2016 - - Germline - - - - - Johan den Dunnen
?/. - c.274T>C r.(?) p.(Tyr92His) - VUS g.40688564T>C - NAGLU(NM_000263.3):c.274T>C (p.Y92H) - NAGLU_000086 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.281G>C r.(?) p.(Arg94Pro) - VUS g.40688571G>C g.42536553G>C NAGLU(NM_000263.3):c.281G>C (p.R94P) - NAGLU_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+?/. - c.281_283delinsCCC r.(?) p.(Arg94_Asp95delinsProHis) - likely pathogenic g.40688571_40688573delinsCCC g.42536553_42536555delinsCCC NAGLU(NM_000263.3):c.281_283delGCGinsCCC (p.R94_D95delinsPH) - NAGLU_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.283G>C r.(?) p.(Asp95His) - VUS g.40688573G>C g.42536555G>C NAGLU(NM_000263.3):c.283G>C (p.D95H) - NAGLU_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.292G>A r.(?) p.(Gly98Ser) - VUS g.40688582G>A g.42536564G>A NAGLU(NM_000263.3):c.292G>A (p.(Gly98Ser)) - NAGLU_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. - c.338C>T r.(?) p.(Pro113Leu) - VUS g.40688628C>T - NAGLU(NM_000263.4):c.338C>T (p.(Pro113Leu)) - NAGLU_000131 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.351G>T r.(?) p.(=) - likely benign g.40688641G>T - NAGLU(NM_000263.4):c.351G>T (p.V117=) - NAGLU_000101 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
?/. - c.353C>T r.(?) p.(Pro118Leu) - VUS g.40688643C>T g.42536625C>T NAGLU(NM_000263.4):c.353C>T (p.P118L) - NAGLU_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
+/. - c.358G>T r.(?) p.(Glu120Ter) - pathogenic (recessive) g.40688648G>T g.42536630G>T - - NAGLU_000115 - PubMed: Pollard 2016 - - Germline - - - - - Johan den Dunnen
-?/. - c.383+7C>T r.(=) p.(=) - likely benign g.40688680C>T g.42536662C>T NAGLU(NM_000263.3):c.383+7C>T (p.?) - NAGLU_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+?/. - c.384-1G>A r.spl p.? - likely pathogenic (recessive) g.40689415G>A g.42537397G>A - - NAGLU_000116 - PubMed: Pollard 2016 - - Germline - - - - - Johan den Dunnen
+/. 2 c.392A>G r.(?) p.(Tyr131Cys) - pathogenic (recessive) g.40689424A>G g.42537406A>G - - NAGLU_000127 - PubMed: Fang 2022 - - Germline - - - - - Johan den Dunnen
?/. - c.410C>T r.(?) p.(Thr137Met) - VUS g.40689442C>T - NAGLU(NM_000263.4):c.410C>T (p.(Thr137Met)) - NAGLU_000103 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+/. - c.419A>G r.(?) p.(Tyr140Cys) - pathogenic g.40689451A>G g.42537433A>G NAGLU(NM_000263.3):c.419A>G (p.Y140C) - NAGLU_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. - c.421T>A r.(?) p.(Ser141Thr) - benign g.40689453T>A g.42537435T>A NAGLU(NM_000263.3):c.421T>A (p.(Ser141Thr)), NAGLU(NM_000263.4):c.421T>A (p.S141T) - NAGLU_000050 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-/. - c.421T>A r.(?) p.(Ser141Thr) - benign g.40689453T>A g.42537435T>A NAGLU(NM_000263.3):c.421T>A (p.(Ser141Thr)), NAGLU(NM_000263.4):c.421T>A (p.S141T) - NAGLU_000050 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
+?/. - c.422C>T r.(?) p.(Ser141Phe) - likely pathogenic (recessive) g.40689454C>T g.42537436C>T - - NAGLU_000117 - PubMed: Pollard 2016 - - Germline - - - - - Johan den Dunnen
-/. - c.423T>C r.(?) p.(Ser141=) - benign g.40689455T>C g.42537437T>C NAGLU(NM_000263.3):c.423T>C (p.S141=), NAGLU(NM_000263.4):c.423T>C (p.S141=) - NAGLU_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/. - c.423T>C r.(?) p.(Ser141=) - benign g.40689455T>C g.42537437T>C NAGLU(NM_000263.3):c.423T>C (p.S141=), NAGLU(NM_000263.4):c.423T>C (p.S141=) - NAGLU_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-/. - c.423T>C r.(?) p.(Ser141=) - benign g.40689455T>C g.42537437T>C NAGLU(NM_000263.3):c.423T>C (p.S141=), NAGLU(NM_000263.4):c.423T>C (p.S141=) - NAGLU_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. - c.423T>C r.(?) p.(Ser141=) - benign g.40689455T>C - NAGLU(NM_000263.3):c.423T>C (p.S141=), NAGLU(NM_000263.4):c.423T>C (p.S141=) - NAGLU_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-/. - c.423T>C r.(?) p.(Ser141=) - benign g.40689455T>C - NAGLU(NM_000263.3):c.423T>C (p.S141=), NAGLU(NM_000263.4):c.423T>C (p.S141=) - NAGLU_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
+?/. - c.482G>A r.(?) p.(Gly161Asp) - likely pathogenic (recessive) g.40689514G>A g.42537496G>A - - NAGLU_000118 - PubMed: Pollard 2016 - - Germline - - - - - Johan den Dunnen
+/. - c.503G>A r.(?) p.(Trp168Ter) - pathogenic g.40689535G>A g.42537517G>A NAGLU(NM_000263.4):c.503G>A (p.W168*) - NAGLU_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
?/. - c.509G>A r.(?) p.(Gly170Asp) - VUS g.40689541G>A g.42537523G>A NAGLU(NM_000263.3):c.509G>A (p.G170D) - NAGLU_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. 2 c.509G>T r.(?) p.(Gly170Val) - likely pathogenic g.40689541G>T g.42537523G>T - - NAGLU_000071 - - - - Germline yes - - - - Dilek Gün Bilgiç
-?/. - c.510C>T r.(?) p.(Gly170=) - likely benign g.40689542C>T - - - NAGLU_000073 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/. - c.526C>T r.(?) p.(Gln176*) - pathogenic g.40689558C>T - NAGLU(NM_000263.3):c.526C>T (p.Q176*) - NAGLU_000076 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+?/. - c.531+1G>C r.spl? p.? - likely pathogenic g.40689564G>C g.42537546G>C NAGLU(NM_000263.3):c.531+1G>C - NAGLU_000051 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.569A>G r.(?) p.(Asn190Ser) - VUS g.40690394A>G - NAGLU(NM_000263.4):c.569A>G (p.N190S, p.(Asn190Ser)) - NAGLU_000095 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
?/. - c.569A>G r.(?) p.(Asn190Ser) - VUS g.40690394A>G - NAGLU(NM_000263.4):c.569A>G (p.N190S, p.(Asn190Ser)) - NAGLU_000095 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. - c.593T>A r.(?) p.(Phe198Tyr) - VUS g.40690418T>A - NAGLU(NM_000263.4):c.593T>A (p.(Phe198Tyr)) - NAGLU_000132 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. - c.599C>T r.(?) p.(Ala200Val) - VUS g.40690424C>T g.42538406C>T NAGLU(NM_000263.3):c.599C>T (p.(Ala200Val)) - NAGLU_000053 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-/. - c.606G>A r.(?) p.(Gly202=) - benign g.40690431G>A g.42538413G>A NAGLU(NM_000263.4):c.606G>A (p.G202=) - NAGLU_000054 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
+/. - c.607C>T r.(?) p.(Arg203Ter) - pathogenic g.40690432C>T g.42538414C>T NAGLU(NM_000263.3):c.607C>T (p.R203*, p.(Arg203*)) - NAGLU_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.607C>T r.(?) p.(Arg203Ter) - VUS g.40690432C>T - NAGLU(NM_000263.3):c.607C>T (p.R203*, p.(Arg203*)) - NAGLU_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+/. 3 c.607C>T r.(?) p.(Arg203Ter) - pathogenic (recessive) g.40690432C>T g.42538414C>T - - NAGLU_000020 - PubMed: Fang 2022 - - Germline - - - - - Johan den Dunnen
+?/. - c.608G>A r.(?) p.(Arg203Gln) - likely pathogenic g.40690433G>A - NAGLU(NM_000263.4):c.608G>A (p.R203Q) - NAGLU_000102 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
?/. - c.631G>A r.(?) p.(Asp211Asn) - VUS g.40690456G>A g.42538438G>A NAGLU(NM_000263.4):c.631G>A (p.D211N, p.(Asp211Asn)) - NAGLU_000066 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-?/. - c.631G>A r.(?) p.(Asp211Asn) - likely benign g.40690456G>A - NAGLU(NM_000263.4):c.631G>A (p.D211N, p.(Asp211Asn)) - NAGLU_000066 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
?/. - c.631G>A r.(?) p.(Asp211Asn) - VUS g.40690456G>A - NAGLU(NM_000263.4):c.631G>A (p.D211N, p.(Asp211Asn)) - NAGLU_000066 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.647C>G r.(?) p.(Pro216Arg) - likely benign g.40690472C>G - NAGLU(NM_000263.3):c.647C>G (p.(Pro216Arg)) - NAGLU_000091 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-/. - c.675G>T r.(?) p.(Leu225=) - benign g.40690500G>T g.42538482G>T NAGLU(NM_000263.4):c.675G>T (p.L225=) - NAGLU_000055 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
?/. - c.678+3A>G r.spl? p.? - VUS g.40690506A>G g.42538488A>G NAGLU(NM_000263.3):c.678+3A>G (p.?) - NAGLU_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+/. 3i c.679-5_679-1del r.spl p.? - pathogenic (recessive) g.40690683_40690687del g.42538665_42538669del 679-5_679-1delTCCAG - NAGLU_000128 - PubMed: Fang 2022 - - Germline - - - - - Johan den Dunnen
?/. - c.682C>T r.(?) p.(Arg228Trp) - VUS g.40690691C>T - NAGLU(NM_000263.3):c.682C>T (p.(Arg228Trp)) - NAGLU_000087 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+?/. 4 c.700C>G r.(?) p.(Arg234Gly) - likely pathogenic g.40690709C>G g.42538691C>G - - NAGLU_000003 another variant affecting amino acid R234 is already published as pathogenic: c.700C>T, p.(R234C) - - - Germline - - - - - Dr. Alexandra Wey-Fabrizius
+/. 4 c.700C>G r.(?) p.(Arg234Gly) - pathogenic g.40690709C>G g.42538691C>G NM_000263: c.C700G; p.R234G - NAGLU_000003 - PubMed: Karaca 2015 - - Germline - - - - - Johan den Dunnen
?/. - c.736G>C r.(?) p.(Ala246Pro) - VUS g.40690745G>C g.42538727G>C NAGLU(NM_000263.3):c.736G>C (p.(Ala246Pro)), NAGLU(NM_000263.4):c.736G>C (p.A246P) - NAGLU_000056 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
?/. - c.736G>C r.(?) p.(Ala246Pro) - VUS g.40690745G>C g.42538727G>C NAGLU(NM_000263.3):c.736G>C (p.(Ala246Pro)), NAGLU(NM_000263.4):c.736G>C (p.A246P) - NAGLU_000056 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+?/. - c.743A>G r.(?) p.(His248Arg) - likely pathogenic g.40690752A>G g.42538734A>G NAGLU(NM_000263.3):c.743A>G (p.H248R) - NAGLU_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. - c.764+19C>G r.(=) p.(=) - benign g.40690792C>G g.42538774C>G NAGLU(NM_000263.3):c.764+19C>G, NAGLU(NM_000263.4):c.764+19C>G - NAGLU_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. - c.764+19C>G r.(=) p.(=) - benign g.40690792C>G g.42538774C>G NAGLU(NM_000263.3):c.764+19C>G, NAGLU(NM_000263.4):c.764+19C>G - NAGLU_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
?/. - c.782A>G r.(?) p.(Asn261Ser) - VUS g.40692985A>G - NAGLU(NM_000263.4):c.782A>G (p.(Asn261Ser)) - NAGLU_000133 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. - c.845C>T r.(?) p.(Ala282Val) - VUS g.40693048C>T - NAGLU(NM_000263.4):c.845C>T (p.A282V) - NAGLU_000104 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
?/. - c.848C>T r.(?) p.(Pro283Leu) - VUS g.40693051C>T - NAGLU(NM_000263.3):c.848C>T (p.P283L, p.(Pro283Leu)) - NAGLU_000077 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.848C>T r.(?) p.(Pro283Leu) - VUS g.40693051C>T - NAGLU(NM_000263.3):c.848C>T (p.P283L, p.(Pro283Leu)) - NAGLU_000077 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.873C>T r.(?) p.(Ile291=) - likely benign g.40693076C>T g.42541058C>T NAGLU(NM_000263.4):c.873C>T (p.I291=) - NAGLU_000067 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
+/. - c.874G>A r.(?) p.(Gly292Arg) - pathogenic g.40693077G>A - NAGLU(NM_000263.3):c.874G>A (p.(Gly292Arg)) - NAGLU_000106 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+/. - c.874G>A r.(?) p.(Gly292Arg) - pathogenic (recessive) g.40693077G>A g.42541059G>A - - NAGLU_000106 - PubMed: Pollard 2016 - - Germline - - - - - Johan den Dunnen
+/. - c.889C>T r.(?) p.(Arg297Ter) - pathogenic g.40693092C>T g.42541074C>T NAGLU(NM_000263.3):c.889C>T (p.R297*, p.(Arg297*)), NAGLU(NM_000263.4):c.889C>T (p.R297*) - NAGLU_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
+/. - c.889C>T r.(?) p.(Arg297Ter) - pathogenic g.40693092C>T g.42541074C>T NAGLU(NM_000263.3):c.889C>T (p.R297*, p.(Arg297*)), NAGLU(NM_000263.4):c.889C>T (p.R297*) - NAGLU_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. - c.889C>T r.(?) p.(Arg297*) ACMG pathogenic g.40693092C>T g.42541074C>T - - NAGLU_000024 de Ruijter et al. 2012. Mol Genet Metab 107: 705; Meijer et al. 2017. Mol Genet Metab 122: 100; Pollard et al. 2013. J Inherit Metab Dis 36: 179 - - rs104894592 Germline - - - - - Andreas Laner
+/. - c.889C>T r.(?) p.(Arg297*) - pathogenic (recessive) g.40693092C>T g.42541074C>T NM_000263.3:c.889C>T:p.(Arg297*) - NAGLU_000024 - PubMed: Maddirevula 2018 - - Germline - - - - - LOVD
+?/. - c.889C>T r.(?) p.(Arg297Ter) - likely pathogenic g.40693092C>T - NAGLU(NM_000263.3):c.889C>T (p.R297*, p.(Arg297*)), NAGLU(NM_000263.4):c.889C>T (p.R297*) - NAGLU_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+/. - c.889C>T r.(?) p.(Arg297Ter) - pathogenic (recessive) g.40693092C>T g.42541074C>T - - NAGLU_000024 - PubMed: Pollard 2016 - - Germline - - - - - Johan den Dunnen
-?/. - c.933C>G r.(?) p.(Ala311=) - likely benign g.40693136C>G g.42541118C>G NAGLU(NM_000263.3):c.933C>G (p.A311=), NAGLU(NM_000263.4):c.933C>G (p.A311=) - NAGLU_000068 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. - c.933C>G r.(?) p.(Ala311=) - likely benign g.40693136C>G - NAGLU(NM_000263.3):c.933C>G (p.A311=), NAGLU(NM_000263.4):c.933C>G (p.A311=) - NAGLU_000068 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.944A>T r.(?) p.(Asn315Ile) - VUS g.40693147A>T - NAGLU(NM_000263.3):c.944A>T (p.(Asn315Ile)) - NAGLU_000107 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.961T>A r.(?) p.(Ser321Thr) - likely benign g.40693164T>A - NAGLU(NM_000263.3):c.961T>A (p.(Ser321Thr)) - NAGLU_000108 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+/. 5 c.999_1019dup r.(?) p.(Tyr335_Val341dup) - pathogenic (recessive) g.40693202_40693222dup g.42541184_42541204dup - - NAGLU_000129 - PubMed: Fang 2022 - - Germline - - - - - Johan den Dunnen
-?/. - c.1021+15T>C r.(=) p.(=) - likely benign g.40693239T>C g.42541221T>C NAGLU(NM_000263.4):c.1021+15T>C - NAGLU_000057 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. - c.1021+15T>G r.(=) p.(=) - likely benign g.40693239T>G - NAGLU(NM_000263.4):c.1021+15T>G - NAGLU_000098 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. - c.1119G>T r.(?) p.(Val373=) - likely benign g.40695143G>T - NAGLU(NM_000263.4):c.1119G>T (p.V373=) - NAGLU_000092 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-/. - c.1119G>T r.(?) p.(Val373=) - benign g.40695143G>T - NAGLU(NM_000263.4):c.1119G>T (p.V373=) - NAGLU_000092 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
?/. - c.1120C>T r.(?) p.(Pro374Ser) - VUS g.40695144C>T - NAGLU(NM_000263.3):c.1120C>T (p.(Pro374Ser)) - NAGLU_000093 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. 6 c.1124G>A r.(?) p.(Arg375His) - VUS g.40695148G>A g.42543130G>A - - NAGLU_000083 - - - rs768600049 Germline - - - - - LOVD
-?/. - c.1176C>T r.(?) p.(=) - likely benign g.40695200C>T - NAGLU(NM_000263.4):c.1176C>T (p.T392=) - NAGLU_000130 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. - c.1176C>T r.(?) p.(=) - likely benign g.40695200C>T - NAGLU(NM_000263.4):c.1176C>T (p.T392=) - NAGLU_000130 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
+/. - c.1211G>A r.(?) p.(Trp404Ter) - pathogenic g.40695235G>A g.42543217G>A NAGLU(NM_000263.3):c.1211G>A (p.W404*) - NAGLU_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.1222C>T r.(?) p.(His408Tyr) - VUS g.40695246C>T - NAGLU(NM_000263.4):c.1222C>T (p.H408Y) - NAGLU_000074 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
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