All variants in the ARSA gene

Information The variants shown are described using the NM_000487.5 transcript reference sequence.

985 entries on 10 pages. Showing entries 1 - 100.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Protein level     

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     
+/. - c.-600579_*3880629del r.0? p.0? - - pathogenic g.47182944_51666786del - - - ALG12_000022 mosaicism, hemizygous in 0.56 cells PubMed: DDDS 2015, Journal: DDDS 2015 - - Somatic - - - - - Johan den Dunnen
+/+ - c.-3337_*8557del r.0 p.0 - - pathogenic (recessive) g.51055016_51069544del g.50616588_50631116del complete deletion - ARSA_000215 - PubMed: Eng 2004 - - Germline - - - - - Alessandra Biffi
+/. _1_8_ c.0 r.0 p.0 - - pathogenic (recessive) g.(?_51061182)_(51066601_?)del g.(?_50622754)_(50628173_?)del - 46,XX,r(22) ARSA_000200 constitutional ring chromosome 22 with ARSA deleted PubMed: Coulter-Mackie 1995 - - De novo - - - - - Johan den Dunnen
+/. _1_8_ c.0 r.0 p.0 - - pathogenic (recessive) g.42533963_42547309)_(51162228_qter)del - - 46,XY.arr cgh 22q13.2qter(A_16_P21334596>A_16_P03641955)x1 ARSA_000200 hg18 array g.(40880829_40894175)_(49509094_qter)del PubMed: Bisgaard 2009 - - Germline/De novo (untested) - - - - - Johan den Dunnen
+/. _1_8_ c.0 r.0 p.0 - - pathogenic (recessive) g.(41000001_44200000)_(49400001_qter)del - 46,XY.ish cghdup(13)(q22qter),del(22)(q13.2qter) - ARSA_000200 - PubMed: Bisgaard 2009 - - Germline/De novo (untested) - - - - - Johan den Dunnen
+/+ 1 c.13del r.(?) p.(Ala5Hisfs*26) - - pathogenic (recessive) g.51066199del g.50627771del 7delG (Ala3fs*24) - ARSA_000001 - PubMed: Berger et al. (1999) - - Germline yes - - - - Martina Cesani
+/. 1 c.13del r.(?) p.(Ala5Hisfs*26) - - pathogenic g.51066199del g.50627771del del7G - ARSA_000001 - PubMed: Berger 1999 - - Germline - - - - - Johan den Dunnen
?/. - c.19C>T r.(?) p.(Arg7Trp) - - VUS g.51066189G>A g.50627761G>A ARSA(NM_000487.6):c.19C>T (p.R7W) - ARSA_000198 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/. - c.19C>T r.(?) p.(Arg7Trp) - - benign g.51066189G>A g.50627761G>A ARSA(NM_000487.6):c.19C>T (p.R7W) - ARSA_000198 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
?/. - c.20G>T r.(?) p.(Arg7Leu) - - VUS g.51066188C>A g.50627760C>A ARSA(NM_000487.6):c.20G>T (p.R7L) - ARSA_000197 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
?/. - c.25C>A r.(?) p.(Leu9Ile) - - VUS g.51066183G>T - ARSA(NM_000487.6):c.25C>A (p.L9I) - ARSA_000278 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
+/+ - c.34del r.(?) p.(Ala12Profs*16) - - pathogenic (recessive) g.51066175del g.50627747del 28delG - ARSA_000270 - PubMed: Luzi 2013 - - Germline - - - - - Alessandra Biffi
+/. - c.34del r.(?) p.(Ala12Profs*16) - - pathogenic g.51066175del g.50627747del - - ARSA_000270 4 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs398123415 Germline - 4/2793 individuals - - - Mohammed Faruq
+/+? - c.38T>A r.(?) p.(Leu13Gln) - - pathogenic (recessive) g.51066170A>T g.50627742A>T 32T>A - ARSA_000269 - PubMed: Luzi 2013 - - Germline - - - - - Alessandra Biffi
+/. 1 c.59C>A r.(?) p.(Ala20Asp) - - pathogenic g.51066149G>T g.50627721G>T - - ARSA_000118 variant results in reduced enzyme activity as shown by in vitro expression experiments PubMed: Grossi 2008, Journal: Grossi 2008, ExPASy_054164 - - Germline - - - - - SIB - Livia Famiglietti
+/. 1 c.91G>A r.(?) p.(Asp31Asn) - - pathogenic g.51066117C>T g.50627689C>T - - ARSA_000140 variant results in loss of enzyme activity as shown by in vitro expression experiments PubMed: Berna 2004, Journal: Berna 2004, ExPASy_054165 - - Germline - - - - - SIB - Livia Famiglietti
+/+? - c.93C>A r.(?) p.(Asp31Glu) - - pathogenic (recessive) g.51066115G>T g.50627687G>T 87C>A - ARSA_000268 - PubMed: Galla 2013 - - Germline - - - - - Alessandra Biffi
+/+? - c.93C>A r.(?) p.(Asp31Glu) - - pathogenic (recessive) g.51066115G>T g.50627687G>T 87C>A - ARSA_000268 - PubMed: Cesani 2016 - - Germline - - - - - Alessandra Biffi
+/. 1 c.94G>C r.(?) p.(Asp32His) - - pathogenic g.51066114C>G g.50627686C>G - - ARSA_000146 variant results in reduced enzyme activity as shown by in vitro expression experiments PubMed: Grossi 2008, ExPASy_054166 - - Germline - - - - - SIB - Livia Famiglietti
+/. 1 c.100G>A r.(?) p.(Gly34Ser) - - pathogenic (recessive) g.51066108C>T g.50627680C>T - - ARSA_000033 - PubMed: Gort 1999, ExPASy_054167 - - Germline - - - - - SIB - Livia Famiglietti
+/. 1 c.104A>C r.(?) p.(Tyr35Ser) - - pathogenic g.51066104T>G g.50627676T>G c.98A>C - ARSA_000071 unknown variant 2nd allele PubMed: Shukla 2011 - - Germline - - - - - Johan den Dunnen
+/. - c.109_116del r.(?) p.(Asp37Leufs*36) - - pathogenic (recessive) g.51066096_51066103del g.50627668_50627675del - - ARSA_000203 - PubMed: Gort 1999 - - Germline - - - - - Johan den Dunnen
+/+ - c.109_116del r.(?) p.(Asp37Leufs*36) - - pathogenic (recessive) g.51066096_51066103del g.50627668_50627675del 103_110del8 - ARSA_000203 unknown variant 2nd allele PubMed: Draghia 1997 - - Germline - - - - - Alessandra Biffi
?/. - c.111C>A r.(?) p.(Asp37Glu) - - VUS g.51066097G>T g.50627669G>T [105C>A; 106_124dup] - ARSA_000209 - PubMed: Luzi 2013 - - Germline - - - - - Alessandra Biffi
+/+ - c.113_131dup r.(?) p.(Ser45Glyfs*37) - - pathogenic (recessive) g.51066079_51066097dup g.50627651_50627669dup [105C>A; 106_124dup] - ARSA_000208 - PubMed: Luzi 2013 - - Germline - - - - - Alessandra Biffi
+/. 1 c.120C>A r.(?) p.(Cys40*) - - pathogenic (recessive) g.51066088G>T g.50627660G>T c.114C>A - ARSA_000079 - PubMed: Suzuki 2008 - - Germline - - - - - Johan den Dunnen
?/? - c.122A>T r.(?) p.(Tyr41Phe) - - VUS g.51066086T>A g.50627658T>A [116A>T; 447C>G] - ARSA_000212 - PubMed: Luzi 2013 - - Germline - - - - - Alessandra Biffi
+/+? - c.135C>A r.(?) p.(Ser45Arg) - - pathogenic (recessive) g.51066073G>T g.50627645G>T 129C>A - ARSA_000267 - PubMed: Rafi 2003 - - Germline - - - - - Alessandra Biffi
+/+? - c.135C>A r.(?) p.(Ser45Arg) - - pathogenic (recessive) g.51066073G>T g.50627645G>T 129C>A - ARSA_000267 - PubMed: Rafi 2003 - - Germline - - - - - Alessandra Biffi
+/+? - c.136T>C r.(?) p.(Ser46Pro) - - pathogenic (recessive) g.51066072A>G g.50627644A>G 130T>C - ARSA_000266 - PubMed: Luzi 2013 - - Germline - - - - - Alessandra Biffi
+/+? - c.157C>T r.(?) p.(Gln53*) - - pathogenic (recessive) g.51066051G>A g.50627623G>A 151C>T - ARSA_000265 - PubMed: Luzi 2013 - - Germline - - - - - Alessandra Biffi
+/. 1 c.161T>C r.(?) p.(Leu54Pro) - - pathogenic (recessive) g.51066047A>G g.50627619A>G c.155T>C - ARSA_000090 - PubMed: Bertelli 2006 - - Germline - - - - - Johan den Dunnen
+/+ 1 c.161T>C r.(?) p.Leu54Pro - - NA g.51066047A>G g.50627619A>G - - ARSA_000005 <1% residual activity PubMed: Cesani 2009, Journal: Cesani 2009, ExPASy_067414 - - In vitro (cloned) - - - - - Martina Cesani
?/. 1 c.173G>A r.(?) p.(Gly58Glu) - - VUS g.51066035C>T g.50627607C>T - - ARSA_000287 - PubMed: Ganapathy 2019 - - Germline - - - - - Johan den Dunnen
+/+ - c.185_186dup r.(?) p.(Asp63Glnfs*18) - - pathogenic (recessive) g.51066024_51066025dup g.50627596_50627597dup 179_180dupCA - ARSA_000264 unknown variant 2nd allele PubMed: Wang 2007 - - Germline - - - - - Alessandra Biffi
+/+? - c.195del r.(?) p.(Tyr65*) - - pathogenic (recessive) g.51066013del g.50627585del 189delC - ARSA_000263 - PubMed: Luzi 2013 - - Germline - - - - - Alessandra Biffi
+/. 1 c.209T>C r.(?) p.(Leu70Pro) - - pathogenic (recessive) g.51065999A>G g.50627571A>G - - ARSA_000091 - PubMed: Gort 1999, ExPASy_054168 - - Germline - - - - - SIB - Livia Famiglietti
+/+? - c.209T>C r.(?) p.(Leu70Pro) - - pathogenic (recessive) g.51065999A>G g.50627571A>G 203T>C - ARSA_000091 - PubMed: Gort 1999 - - Germline - - - - - Alessandra Biffi
+/+ - c.211_212del r.(?) p.(Cys71Hisfs*4) - - pathogenic (recessive) g.51065998_51065999del g.50627570_50627571del 205_206delTG - ARSA_000262 - PubMed: Eng 2003 - - Germline - - - - - Alessandra Biffi
-?/. - c.224+8G>A r.(=) p.(=) - - likely benign g.51065976C>T - ARSA(NM_000487.5):c.224+8G>A - ARSA_000292 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.225-6C>T r.(=) p.(=) - - likely benign g.51065840G>A - ARSA(NM_000487.6):c.225-6C>T - ARSA_000293 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
+/. - c.225-2A>G r.spl p.? - - pathogenic (recessive) g.51065836T>C g.50627408T>C c.219-2A>G - ARSA_000202 - PubMed: Kurosawa 1998 - - Germline - - - - - Johan den Dunnen
?/. - c.232C>T r.(?) p.(Leu78Phe) - - VUS g.51065827G>A g.50627399G>A ARSA(NM_000487.6):c.232C>T (p.L78F) - ARSA_000180 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/. 2 c.233T>C r.(?) p.(Leu78Pro) - - benign g.51065826A>G g.50627398A>G L76P - ARSA_000012 - PubMed: Berger 1996, PubMed: Berger 1999, ExPASy_007243 - - Unknown - - - - - Johan den Dunnen
-/. 2 c.233T>C r.(?) p.(Leu78Pro) - - benign g.51065826A>G g.50627398A>G L76P - ARSA_000012 - PubMed: Berger et al. (1999) - - Germline - - - - - Johan den Dunnen
-/. 2 c.233T>C r.(?) p.(Leu78Pro) - - benign g.51065826A>G g.50627398A>G L76P - ARSA_000012 - PubMed: Berger et al. (1999) - - Germline - - - - - Johan den Dunnen
+/+ - c.240dup r.(?) p.(Gly81Argfs*53) - - pathogenic (recessive) g.51065820dup g.50627392dup 234dupC - ARSA_000261 - {PMID:Waye 2007 HGOL - - Germline - - - - - Alessandra Biffi
-/. - c.243C>T r.(?) p.(Gly81=) - - benign g.51065816G>A g.50627388G>A ARSA(NM_000487.6):c.243C>T (p.G81=) - ARSA_000179 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
+/+ - c.244del r.(?) p.(Arg82Glyfs*26) - - pathogenic (recessive) g.51065816del g.50627388del 237delC - ARSA_000260 - PubMed: Gort 2000 - - Germline - - - - - Alessandra Biffi
+/+? - c.248T>C r.(?) p.(Leu83Pro) - - pathogenic (recessive) g.51065811A>G g.50627383A>G 242T>C - ARSA_000259 - PubMed: Luzi 2013 - - Germline - - - - - Alessandra Biffi
+/+ 2 c.251C>T r.(?) p.(Pro84Leu) - - pathogenic (recessive) g.51065808G>A g.50627380G>A 245C>T (Pro82Leu) - ARSA_000007 - Journal: Biffi 2008 - - Germline - - - - - Martina Cesani
+/+ 2 c.251C>T r.(?) p.(Pro84Leu) - - pathogenic g.51065808G>A g.50627380G>A 245C>T (Pro82Leu) - ARSA_000007 unknown variant 2nd allele PubMed: Barth 1995, Journal: Barth 1995 - - Germline - - - - - Alessandra Biffi
+/. - c.251C>T r.(?) p.(Pro84Leu) - - pathogenic g.51065808G>A g.50627380G>A ARSA(NM_000487.6):c.251C>T (p.P84L) - ARSA_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
+/. - c.251C>T r.(?) p.(Pro84Leu) - - pathogenic (recessive) g.51065808G>A g.50627380G>A - - ARSA_000007 - Waye 2007 HGOL - - Germline - - - - - Johan den Dunnen
+/+ 2 c.256C>T r.256C>T p.Arg86Trp - - pathogenic (recessive) g.51065803G>A g.50627375G>A 250C>T (Arg84Trp) - ARSA_000008 - Journal: Biffi 2008, Journal: Cesani et al. (2009) - - Germline - - - - - Martina Cesani
+/+ 2 c.256C>T r.256C>T p.Arg86Trp - - pathogenic (recessive) g.51065803G>A g.50627375G>A 250C>T (Arg84Trp) - ARSA_000008 - Journal: Biffi 2008, Journal: Cesani 2009 - - Germline - - - - - Martina Cesani
+/+ 2 c.256C>T r.256C>T p.Arg86Trp - - pathogenic g.51065803G>A g.50627375G>A 250C>T (Arg84Trp) - ARSA_000008 - Journal: Cesani et al. (2009) - - Germline - - - - - Martina Cesani
+/+ 2 c.256C>T r.256C>T p.Arg86Trp - - pathogenic (recessive) g.51065803G>A g.50627375G>A 250C>T (Arg84Trp) - ARSA_000008 - Journal: Biffi 2008, Journal: Cesani 2009 - - Germline - - - - - Martina Cesani
+/+ 2 c.256C>T r.256C>T p.Arg86Trp - - pathogenic (recessive) g.51065803G>A g.50627375G>A 250C>T (Arg84Trp) - ARSA_000008 - Journal: Biffi 2008, Journal: Cesani 2009 - - Germline ? - - - - Martina Cesani
+/. 2 c.256C>T r.(?) p.(Arg86Trp) - - pathogenic (recessive) g.51065803G>A g.50627375G>A - - ARSA_000093 - PubMed: Gort 1999, ExPASy_054169 - - Germline - - - - - SIB - Livia Famiglietti
+/+ 2 c.256C>T r.(?) p.Arg86Trp - - NA g.51065803G>A g.50627375G>A - - ARSA_000008 6% residual activity Journal: Cesani et al. (2009) - - In vitro (cloned) - - - - - Martina Cesani
+/+ 2 c.256C>T r.(?) p.Arg86Trp - - NA g.51065803G>A g.50627375G>A - - ARSA_000008 6% residual activity Journal: Cesani et al. (2009) - - In vitro (cloned) - - - - - Martina Cesani
+/+ 2 c.256C>T r.(?) p.Arg86Trp - - NA g.51065803G>A g.50627375G>A - - ARSA_000008 6% residual activity Journal: Cesani et al. (2009) - - In vitro (cloned) - - - - - Martina Cesani
+/+ 2 c.256C>T r.(?) p.Arg86Trp - - NA g.51065803G>A g.50627375G>A - - ARSA_000008 6% residual activity Journal: Cesani et al. (2009) - - In vitro (cloned) - - - - - Martina Cesani
+/+ 2 c.256C>T r.(?) p.Arg86Trp - - NA g.51065803G>A g.50627375G>A - - ARSA_000008 6% residual activity Journal: Cesani et al. (2009) - - In vitro (cloned) ? - - - - Martina Cesani
+/. - c.256C>T r.(?) p.(Arg86Trp) - - pathogenic (recessive) g.51065803G>A g.50627375G>A - - ARSA_000008 - Journal: Biffi 2008 - - Germline yes - - - - Martina Cesani
+/+? - c.256C>T r.(?) p.(Arg86Trp) 0.06 - pathogenic (recessive) g.51065803G>A g.50627375G>A 250C>T - ARSA_000008 - PubMed: Bertelli 2006 - - Germline - - - - - Alessandra Biffi
+/+? - c.256C>T r.(?) p.(Arg86Trp) 0.06 - pathogenic (recessive) g.51065803G>A g.50627375G>A 250C>T - ARSA_000008 - PubMed: Galla 2013 - - Germline - - - - - Alessandra Biffi
+/+? - c.256C>T r.(?) p.(Arg86Trp) 0.06 - pathogenic (recessive) g.51065803G>A g.50627375G>A 250C>T - ARSA_000008 - PubMed: Cesani 2016 - - Germline - - - - - Alessandra Biffi
+/+ 2 c.257G>A r.(?) p.(Arg86Gln) - - pathogenic g.51065802C>T g.50627374C>T 251G>A (Arg84Gln) - ARSA_000094 - PubMed: Kapler 1992, Journal: Kapler 1992, ExPASy_007245 - - Germline ? - - - - Alessandra Biffi
+/. - c.257G>A r.(?) p.(Arg86Gln) - - pathogenic g.51065802C>T g.50627374C>T ARSA(NM_000487.5):c.257G>A (p.R86Q, p.(Arg86Gln)), ARSA(NM_000487.6):c.257G>A (p.R86Q) - ARSA_000094 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
+/. - c.257G>A r.(?) p.(Arg86Gln) - - pathogenic g.51065802C>T g.50627374C>T ARSA(NM_000487.5):c.257G>A (p.R86Q, p.(Arg86Gln)), ARSA(NM_000487.6):c.257G>A (p.R86Q) - ARSA_000094 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
+/+ 2 c.257G>A r.(?) p.(Arg86Gln) - - pathogenic g.51065802C>T g.50627374C>T 251G>A (Arg84Gln) - ARSA_000094 - PubMed: Kapler 1992, Journal: Kapler 1992 - - Germline - - - - - Alessandra Biffi
+/+? - c.257G>A r.(?) p.(Arg86Gln) 0.09 - pathogenic (recessive) g.51065802C>T g.50627374C>T 251G>A - ARSA_000094 - PubMed: Coulter-Mackie 2003 - - Germline - - - - - Alessandra Biffi
+/+? - c.257G>A r.(?) p.(Arg86Gln) 0.09 - pathogenic (recessive) g.51065802C>T g.50627374C>T 251G>A - ARSA_000094 - PubMed: Rafi 2003 - - Germline - - - - - Alessandra Biffi
+/+? - c.257G>A r.(?) p.(Arg86Gln) 0.09 - pathogenic (recessive) g.51065802C>T g.50627374C>T 251G>A - ARSA_000094 - PubMed: Bertelli 2006 - - Germline - - - - - Alessandra Biffi
+/+? - c.257G>A r.(?) p.(Arg86Gln) 0.09 - pathogenic (recessive) g.51065802C>T g.50627374C>T 251G>A - ARSA_000094 - PubMed: Bertelli 2006 - - Germline - - - - - Alessandra Biffi
+/+? - c.257G>A r.(?) p.(Arg86Gln) 0.09 - pathogenic (recessive) g.51065802C>T g.50627374C>T 251G>A - ARSA_000094 - PubMed: Wang 2007 - - Germline - - - - - Alessandra Biffi
+/+? - c.257G>A r.(?) p.(Arg86Gln) 0.09 - pathogenic (recessive) g.51065802C>T g.50627374C>T 251G>A - ARSA_000094 - PubMed: Wang 2007 - - Germline - - - - - Alessandra Biffi
+/+? - c.257G>A r.(?) p.(Arg86Gln) 0.09 - pathogenic (recessive) g.51065802C>T g.50627374C>T 251G>A - ARSA_000094 - PubMed: Grossi 2008 - - Germline - - - - - Alessandra Biffi
+/+? - c.257G>A r.(?) p.(Arg86Gln) 0.09 - pathogenic (recessive) g.51065802C>T g.50627374C>T 251G>A - ARSA_000094 - PubMed: Cesani 2016 - - Germline - - - - - Alessandra Biffi
+/. - c.257G>A r.(?) p.(Arg86Gln) - - pathogenic g.51065802C>T g.50627374C>T ARSA(NM_000487.5):c.257G>A (p.R86Q, p.(Arg86Gln)), ARSA(NM_000487.6):c.257G>A (p.R86Q) - ARSA_000094 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. - c.257G>A r.(?) p.(Arg86Gln) - - pathogenic g.51065802C>T g.50627374C>T ARSA(NM_000487.5):c.257G>A (p.R86Q, p.(Arg86Gln)), ARSA(NM_000487.6):c.257G>A (p.R86Q) - ARSA_000094 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+?/. - c.257G>A r.(?) p.(Arg86Gln) - - likely pathogenic g.51065802C>T - ARSA(NM_000487.5):c.257G>A (p.R86Q, p.(Arg86Gln)), ARSA(NM_000487.6):c.257G>A (p.R86Q) - ARSA_000094 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/+? - c.257G>T r.(?) p.(Arg86Leu) - - pathogenic (recessive) g.51065802C>A g.50627374C>A 251G>T - ARSA_000258 - PubMed: Luzi 2013 - - Germline - - - - - Alessandra Biffi
+/. 2 c.263G>A r.(?) p.(Gly88Asp) - - pathogenic g.51065796C>T g.50627368C>T c.257G>A - ARSA_000095 unknown variant 2nd allele PubMed: Gieselmann 1994 - - Germline - - - - - Johan den Dunnen
+/+? - c.263G>A r.(?) p.(Gly88Asp) - - pathogenic (recessive) g.51065796C>T g.50627368C>T 257G>A - ARSA_000095 - PubMed: Heinisch 1995 - - Germline - - - - - Alessandra Biffi
+/+ - c.264del r.(?) p.(Met89Cysfs*19) - - pathogenic (recessive) g.51065795del g.50627367del 258delC - ARSA_000257 - PubMed: Regis 2004 - - Germline - - - - - Alessandra Biffi
+/. 2 c.286C>G r.(?) p.(Pro96Ala) - - pathogenic (recessive) g.51065773G>C g.50627345G>C - - ARSA_000096 - PubMed: Gort 1999, ExPASy_054170 - - Germline - - - - - SIB - Livia Famiglietti
+/+? - c.286C>G r.(?) p.(Pro96Ala) - - pathogenic (recessive) g.51065773G>C g.50627345G>C 280C>G - ARSA_000096 - PubMed: Gort 1999 - - Germline - - - - - Alessandra Biffi
+/. 2 c.290G>A r.(?) p.(Ser97Asn) - - pathogenic g.51065769C>T g.50627341C>T - - ARSA_000034 - PubMed: Draghia 1997, ExPASy_007247 - - Unknown - - - - - SIB - Livia Famiglietti
+/+? - c.290G>A r.(?) p.(Ser97Asn) - - pathogenic (recessive) g.51065769C>T g.50627341C>T 284G>A - ARSA_000034 unknown variant 2nd allele PubMed: Draghia 1997 - - Germline - - - - - Alessandra Biffi
+/+ - c.292delinsCC r.(?) p.(Ser98Profs*36) - - pathogenic (recessive) g.51065767delinsGG g.50627339delinsGG 286delTinsCC - ARSA_000256 - PubMed: Cesani 2016 - - Germline - - - - - Alessandra Biffi
+/. 2 c.292_293delinsCT r.(?) p.(Ser98Leu) - - pathogenic (recessive) g.51065766_51065767delinsAG g.50627338_50627339delinsAG 286_287TC>CT - ARSA_000042 variant results in loss of enzyme activity as shown by in vitro expression experiments PubMed: Heinisch 1995, ExPASy_007249 - - Germline - - - - - SIB - Livia Famiglietti
+/. 2 c.293C>T r.(?) p.(Ser98Phe) - - pathogenic g.51065766G>A g.50627338G>A c.287C>T - ARSA_000097 - PubMed: Gieselman 1991 - - Germline - - - - - Johan den Dunnen
+?/. - c.293C>T r.(?) p.(Ser98Phe) - - likely pathogenic g.51065766G>A g.50627338G>A ARSA(NM_000487.6):c.293C>T (p.S98F) - ARSA_000097 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+?/. - c.293C>T r.(?) p.(Ser98Phe) - - likely pathogenic g.51065766G>A g.50627338G>A ARSA(NM_000487.6):c.293C>T (p.S98F) - ARSA_000097 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
+/. - c.293C>T r.(?) p.(Ser98Phe) - - pathogenic g.51065766G>A g.50627338G>A ARSA(NM_000487.6):c.293C>T (p.S98F) - ARSA_000097 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
+/. - c.293C>T r.(?) p.(Ser98Phe) - - pathogenic g.51065766G>A g.50627338G>A ARSA(NM_000487.6):c.293C>T (p.S98F) - ARSA_000097 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
+?/. - c.293C>T r.(?) p.(Ser98Phe) - - likely pathogenic g.51065766G>A g.50627338G>A ARSA(NM_000487.6):c.293C>T (p.S98F) - ARSA_000097 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
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