Full data view for gene SACS

Information The variants shown are described using the NM_014363.5 transcript reference sequence.

663 entries on 7 pages. Showing entries 1 - 100.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Allele     

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     

Template     

Technique     

Tissue     

Remarks     

Disease     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age at death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
-/. - c.-13A>G r.(?) p.(=) Unknown - benign g.23985391T>C g.23411252T>C SACS(NM_014363.5):c.-13A>G - SACS_000264 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.-13A>G r.(?) p.(=) Unknown - benign g.23985391T>C g.23411252T>C SACS(NM_014363.5):c.-13A>G - SACS_000264 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/? _1_10_ c.(?_-1)_(-1_?)dup r.? p.? Unknown - likely pathogenic g.(?_23495953)_(24927491_?)dup g.(?_22921814)_(24353353_?)dup hg18:g.(?_22,393,953)_(23,825,491_?)dup - SACS_000170 chromosome 13 duplication PubMed: McElroy 2013 - - De novo - - - - - DNA arrayCNV - - spastic ataxia 1 PubMed: McElroy 2013 - F ? - - - - - - 1 Bernard Brais
+/? _1_10_ c.0 r.0 p.0 Parent #1 - pathogenic g.(?_23904274)_(23985379_?)del - chr13.hg19:g.(22,335,637_22,383,193)_(23,801,734_23,879,339)del - SACS_000048 denovo deletion on maternel chromosome including 6 genes PubMed: Breckpot 2008 - - De novo - - - - - DNA arrayCGH - - SACS 18398442-Pat1 PubMed: Breckpot 2008 - M ? Belgium - - - - - 1 Bernard Brais
+/? _1_10_ c.0 r.0 p.0 Parent #1 - pathogenic g.(?_23904274)_(23985379_?)del - 1.5Mb del on chr13q12.12 - SACS_000048 del 1.5 Mb (6 genes) PubMed: Terracciano 2008 - - Germline - - - - - DNA arrayCGH - - spastic ataxia Pt 2-MPG PubMed: Terracciano 2008 - M no Italy - - - - - 1 Bernard Brais
+/? _1_10_ c.0 r.0 p.0 Parent #2 - pathogenic g.(?_23904274)_(23985379_?)del - 1.5Mb del on chr13q12.12 - SACS_000048 del 1.5 Mb (6 genes) PubMed: Terracciano 2008 - - Germline - - - - - DNA arrayCGH - - spastic ataxia Pt 1-LF PubMed: Terracciano 2008 - F no Italy - - - - - 1 Bernard Brais
+/? _1_10_ c.0 r.0 p.0 Paternal (confirmed) - pathogenic g.(?_23904274)_(23985379_?)del - 1.5Mb del on chr13q12.12 - SACS_000048 deletion on paternel chromosome including 6 genes PubMed: Terracciano 2010 - - Germline ? - - - - DNA arrayCGH - - SACS II-1 PubMed: Terracciano 2010 - F ? United Kingdom (Great Britain) - - - - - 1 Bernard Brais
+/? _1_10_ c.0 r.0 p.0 Maternal (confirmed) - pathogenic g.(?_23904274)_(23985379_?)del - deletion 1.5 Mb - SACS_000048 - PubMed: Terracciano 2010 - - Germline - - - - - DNA arrayCGH - - SACS III-1 PubMed: Terracciano 2010 - M ? United Kingdom (Great Britain) - - - - - 1 Bernard Brais
+/? _1_10_ c.0 r.(?) p.0 Parent #2 - pathogenic g.(?_23511581)_(24928468?)del - 23511581_24928468del - SACS_000048 possible founder deletion PubMed: Thiffault 2012 - - Germline - - - - - DNA arraySNP, SEQ - - SACS 23250129-Pat11 PubMed: Thiffault 2012 - - ? Canada French Canadian - - - - 1 Bernard Brais
+/? _1_10_ c.0 r.0 p.0 Parent #1 - pathogenic g.(?_23904274)_(23985379_?)del - 584 kb deletion - SACS_000048 del 584 Kb (SACS and SGCG) chr13: 22,423,000-23,007,000 PubMed: McMillan 2009 - - Germline - - - - - DNA arraySNP - - SACS 1 PubMed: McMillan 2009 - F no Canada - - - - - 1 Bernard Brais
+/? _1_10_ c.0 r.0 p.0 Parent #2 - pathogenic g.(?_23904274)_(23985379_?)del - 584 kb deletion - SACS_000048 del 584 Kb (SACS and SGCG) chr13: 22,423,000-23,007,000 PubMed: McMillan 2009 - - Germline - - - - - DNA arraySNP - - SACS 1 PubMed: McMillan 2009 - F no Canada - - - - - 1 Bernard Brais
+/? _1_10_ c.0 r.0 p.0 Paternal (confirmed) - pathogenic g.(?_23904274)_(23985379_?)del - 0.7-Mb deletion - SACS_000048 - PubMed: Pyle 2013 - - Unknown - - - - - DNA arrayCGH - - spastic ataxia Pt II-1 PubMed: Pyle 2013 - M no - - - - - - 1 Bernard Brais
+/? _1_10_ c.0 r.0 p.0 Paternal (confirmed) - pathogenic g.(?_23904274)_(23985379_?)del - deletion 0.7 Mb - SACS_000048 - PubMed: Pyle 2013 - - Unknown - - - - - DNA arrayCGH - - spastic ataxia Pt II-2 PubMed: Pyle 2013 - - no - - - - - - 1 Bernard Brais
+/? _1_10_ c.0 r.0 p.0 Parent #2 - pathogenic g.(?_23904274)_(23985379_?)del - 1.5 Mb macrodeletion - SACS_000048 - PubMed: Romano 2013 - - Unknown ? - - - - DNA SEQ - - spastic ataxia Pt6 PubMed: Romano 2013 - ? ? - - - - - - 1 Bernard Brais
+/? 8 c.1475ˆ1476G>A r.? p.(Trp492*) Parent #1 - pathogenic g.23929275ˆ23929276C>T g.23355136ˆ23355137C>T Trp492X, g.56103G>A - SACS_000043 - PubMed: Vermeer 2008 - - Germline - - - - - DNA SEQ - - SACS 18465152-Fam15 PubMed: Vermeer 2008 - - no Netherlands - - - - - 1 Bernard Brais
-?/. - c.21-15C>T r.(=) p.(=) Unknown - likely benign g.23949423G>A g.23375284G>A SACS(NM_014363.5):c.21-15C>T - SACS_000263 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/? 2i_5i c.(20+1_21-1)_(345+1_346-1)dup r.(?) p.fs* Paternal (confirmed) - pathogenic g.(23939417_23942540)_(23949409_23985358)dup - ex03_05del - SACS_000075 - PubMed: Baets 2010 - - Germline - - - - - DNA PCRm - - SACS 20876471-PatSL66.1 PubMed: Baets 2010 - - ? Hungary - - - - - 1 Bernard Brais
-?/. - c.90C>T r.(?) p.(Thr30=) Unknown - likely benign g.23949339G>A - SACS(NM_014363.5):c.90C>T (p.T30=) - SACS_000387 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.166C>T r.(?) p.(Arg56Cys) Unknown - VUS g.23949263G>A - SACS(NM_014363.6):c.166C>T (p.(Arg56Cys)) - SACS_000437 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.171+1G>A r.spl? p.? Unknown - pathogenic g.23949257C>T g.23375118C>T - - SACS_000295 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.171+6C>T r.(=) p.(=) Unknown - benign g.23949252G>A g.23375113G>A SACS(NM_014363.5):c.171+6C>T - SACS_000262 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.171+6C>T r.(=) p.(=) Unknown - benign g.23949252G>A g.23375113G>A SACS(NM_014363.5):c.171+6C>T - SACS_000262 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.171+13C>T r.(=) p.(=) Unknown - likely benign g.23949245G>A g.23375106G>A SACS(NM_014363.5):c.171+13C>T - SACS_000261 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/? 4 c.216del r.(?) p.(His73Ilefs*4) Parent #2 - pathogenic g.23945260del g.23371121del 216delT p.Cys72Cysfs*4 - SACS_000073 - PubMed: Baets 2010 - - Germline - - - - - DNA SEQ - - SACS 20876471-PatPN53.1 PubMed: Baets 2010 - - ? Belgium - - - - - 1 Bernard Brais
+/? 4 c.237dup r.(?) p.(Ser80Ilefs*98) Parent #2 - pathogenic g.23945240dup g.23371101dup 237insA - SACS_000090 - PubMed: Thiffault 2012 - - Germline - - - - - DNA SEQ - - SACS 23250129-Pat9 PubMed: Thiffault 2012 - - ? Canada French Canadian - - - - 1 Bernard Brais
+/? 4 c.237dup r.(?) p.(Ser80Ilefs*98) Parent #2 - pathogenic g.23945240dup g.23371101dup 237insA - SACS_000090 - PubMed: Thiffault 2012 - - Germline - - - - - DNA SEQ - - SACS 23250129-Pat14 PubMed: Thiffault 2012 - - ? Canada French Canadian - - - - 1 Bernard Brais
+/. - c.262C>T r.(?) p.(Arg88Ter) Parent #1 ACMG pathogenic g.23942624G>A g.23368485G>A - - SACS_000400 - PubMed: Thomas 2022 - - Germline - - - - - DNA SEQ-NG - - ? Pat23 PubMed: Thomas 2022 no family history - no France - - - - - 1 Johan den Dunnen
-/. - c.346-19del r.(=) p.(=) Unknown - benign g.23939440del - SACS(NM_014363.6):c.346-19delT - SACS_000407 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/? 6 c.414C>G r.(?) p.(Tyr138*) Parent #1 - pathogenic g.23939348G>C g.23365209G>C 414C>G - SACS_000121 - PubMed: Haga 2012 - - Unknown - - - - - DNA SEQ - - spastic ataxia Pt1 PubMed: Haga 2012 - M no Japan - - - - - 1 Bernard Brais
+/? 6 c.414C>G r.(?) p.(Tyr138*) Unknown - pathogenic g.23939348G>C g.23365209G>C p.[Y138X] - SACS_000121 - PubMed: Shimazaki 2013 - - Unknown - - - - - DNA SEQ - - spastic ataxia 8 PubMed: Shimazaki 2013 - M ? Japan - - - - - 1 Bernard Brais
+?/. - c.423_424del r.(?) p.(Glu141AspfsTer42) Unknown - likely pathogenic g.23939341_23939342del g.23365202_23365203del SACS(NM_014363.5):c.423_424delGA (p.E141Dfs*42) - SACS_000260 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.432G>T r.(?) p.(Trp144Cys) Unknown - VUS g.23939330C>A g.23365191C>A SACS(NM_014363.5):c.432G>T (p.W144C) - SACS_000259 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.432G>T r.(?) p.(Trp144Cys) Unknown - VUS g.23939330C>A - SACS(NM_014363.5):c.432G>T (p.W144C) - SACS_000259 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.457+1G>A r.spl? p.? Unknown - pathogenic g.23939304C>T g.23365165C>T - - SACS_000294 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/? 7 c.482del r.(?) p.(Asn161Thrfs*15) Maternal (inferred) - pathogenic g.23932597del g.23358458del g.482delA N161Fs*175, g.52784delC - SACS_000049 - PubMed: Kamada 2008 - - Germline - - - - - DNA SEQ - - SACS 18484239-Pat1 PubMed: Kamada 2008 - - ? Japan - - - - - 1 Bernard Brais
+/? 7 c.482del r.(?) p.(Asn161Thrfs*15) Maternal (inferred) - pathogenic g.23932597del g.23358458del g.482delA - SACS_000049 - PubMed: Kamada 2008 - - Germline - - - - - DNA SEQ - - SACS ? PubMed: Kamada 2008 - - ? Japan - - - - - 1 Bernard Brais
+/? 7 c.502G>T r.(?) p.(Asp168Tyr) Both (homozygous) - pathogenic g.23932576C>A g.23358437C>A p.Asp168Tyr - SACS_000105 ATPase domain PubMed: Vermeer 2008 - - Germline - - - - - DNA SEQ - - ataxia 18465152-Fam07 PubMed: Vermeer 2008 - - yes Netherlands Dutch - - - - 7 Johan den Dunnen
+/? 7_7i c.600_604+1del r.spl p.Thr201Cysfs*6 Parent #1 - pathogenic g.23932473_23932478del g.23358334_23358339del 600_604+1delAACAGG (p.I202fsX6) - SACS_000056 - PubMed: Terracciano 2008 - - Germline - - - - - DNA arrayCGH - - spastic ataxia Pt 1-LF PubMed: Terracciano 2008 - F no Italy - - - - - 1 Bernard Brais
+/? 7 c.602C>A r.(?) p.(Thr201Lys) Parent #1 - pathogenic g.23932476G>T g.23358337G>T - - SACS_000078 - PubMed: Baets 2010 - - Germline - - - - - DNA SEQ - - SACS 20876471-PatSL467.1 PubMed: Baets 2010 - - ? Belgium - - - - - 1 Bernard Brais
?/. 7i c.605-3C>G r.spl p.? Both (homozygous) - VUS g.23930149G>C g.23356010G>C - - SACS_000389 - PubMed: Ganapathy 2019 - - Germline - - - - - DNA SEQ-NG - TruSight One panel ? S-3377 PubMed: Ganapathy 2019 - - - India - - - - - 1 Johan den Dunnen
+?/. 8 c.623G>A r.(?) p.(Ser208Asn) Maternal (confirmed) ACMG likely pathogenic g.23930128C>T g.23355989C>T - - SACS_000412 - - - - Germline yes - - - - DNA SEQ-NG-I peripheral blood CES ataxia - - - F - - (not applicable) white - - - - 1 Marketa Wayhelova
?/. - c.639G>T r.(?) p.(Gly213=) Unknown - VUS g.23930112C>A g.23355973C>A SACS(NM_014363.5):c.639G>T (p.G213=) - SACS_000351 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.662T>C r.(?) p.(Leu221Pro) Unknown - VUS g.23930089A>G g.23355950A>G SACS(NM_014363.6):c.662T>C (p.L221P) - SACS_000367 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.696T>A r.(?) p.(Asn232Lys) Unknown - benign g.23930055A>T g.23355916A>T SACS(NM_014363.5):c.696T>A (p.N232K), SACS(NM_014363.6):c.696T>A (p.N232K) - SACS_000258 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.696T>A r.(?) p.(Asn232Lys) Unknown - benign g.23930055A>T g.23355916A>T SACS(NM_014363.5):c.696T>A (p.N232K), SACS(NM_014363.6):c.696T>A (p.N232K) - SACS_000258 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.696T>A r.(?) p.(Asn232Lys) Unknown - benign g.23930055A>T g.23355916A>T SACS(NM_014363.5):c.696T>A (p.N232K), SACS(NM_014363.6):c.696T>A (p.N232K) - SACS_000258 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.744A>C r.(?) p.(Ala248=) Unknown - likely benign g.23930007T>G g.23355868T>G SACS(NM_014363.5):c.744A>C (p.A248=) - SACS_000257 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.810T>G r.(?) p.(Phe270Leu) Unknown - likely benign g.23929941A>C g.23355802A>C SACS(NM_014363.5):c.810T>G (p.F270L) - SACS_000366 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/? 8 c.814C>T r.(?) p.(Arg272Cys) Parent #2 - pathogenic g.23929937G>A g.23355798G>A - - SACS_000059 - PubMed: Thiffault 2012 - - Germline - - - - - DNA SEQ - - SACS 23250129-Pat6 PubMed: Thiffault 2012 - - ? Canada French Canadian - - - - 1 Bernard Brais
+/? 8 c.814C>T r.(?) p.(Arg272Cys) Parent #2 - pathogenic g.23929937G>A g.23355798G>A - - SACS_000059 - PubMed: Thiffault 2012 - - Germline - - - - - DNA SEQ - - SACS 23250129-Pat7 PubMed: Thiffault 2012 - - ? Canada French Canadian - - - - 1 Bernard Brais
+/? 8 c.814C>T r.(?) p.(Arg272Cys) Parent #1 - pathogenic g.23929937G>A g.23355798G>A - - SACS_000059 - PubMed: Thiffault 2012 - - Germline - - - - - DNA SEQ - - SACS 23250129-Pat17 PubMed: Thiffault 2012 - - ? Canada French Canadian - - - - 1 Bernard Brais
+/? 8 c.814C>T r.(?) p.(Arg272Cys) Parent #2 - pathogenic g.23929937G>A g.23355798G>A - - SACS_000059 - PubMed: Thiffault 2012 - - Germline - - - - - DNA SEQ - - SACS 23250129-Pat17 PubMed: Thiffault 2012 - - ? Canada French Canadian - - - - 1 Bernard Brais
+/? 8 c.814C>T r.(?) p.(Arg272Cys) Both (homozygous) - pathogenic g.23929937G>A g.23355798G>A 814C>T - SACS_000059 - PubMed: Guernsey 2010 - - Germline - - - - - DNA SEQ - - ataxia Pt2 PubMed: Guernsey 2010 - - ? Canada Maritime provinces - - - - 1 Bernard Brais
+/? 8 c.814C>T r.(?) p.(Arg272Cys) Both (homozygous) - pathogenic g.23929937G>A g.23355798G>A 814C>T - SACS_000059 - PubMed: Guernsey 2010 - - Germline - - - - - DNA SEQ - - ataxia Pt3 PubMed: Guernsey 2010 - - - Canada Maritime provinces - - - - 1 Bernard Brais
+/? 8 c.814C>T r.(?) p.(Arg272Cys) Both (homozygous) - pathogenic g.23929937G>A g.23355798G>A 814C>T - SACS_000059 - PubMed: Guernsey 2010 - - Germline - - - - - DNA SEQ - - ataxia Pt1 PubMed: Guernsey 2010 - - ? Canada Maritime provinces - - - - 1 Bernard Brais
+/? 8 c.814C>T r.(?) p.(Arg272Cys) Unknown - pathogenic g.23929937G>A g.23355798G>A 814C>T - SACS_000059 - PubMed: Guernsey 2010 - - Germline - - - - - DNA SEQ - - ataxia Pt4 PubMed: Guernsey 2010 - - ? Canada Maritime provinces - - - - 1 Bernard Brais
+/? 8 c.814C>T r.(?) p.(Arg272Cys) Unknown - pathogenic g.23929937G>A g.23355798G>A 814C>T - SACS_000059 - PubMed: Guernsey 2010 - - Germline - - - - - DNA SEQ - - ataxia Pt5 PubMed: Guernsey 2010 - - ? Canada Maritime provinces - - - - 1 Bernard Brais
+/? 8 c.814C>T r.(?) p.(Arg272Cys) Unknown - pathogenic g.23929937G>A g.23355798G>A 814C>T - SACS_000059 - PubMed: Guernsey 2010 - - Germline - - - - - DNA SEQ - - ataxia Pt6 PubMed: Guernsey 2010 - - ? Canada Maritime provinces - - - - 1 Bernard Brais
+/? 8 c.815G>A r.(?) p.(Arg272His) Both (homozygous) - pathogenic g.23929936C>T g.23355797C>T 815G>A(p.R272H) - SACS_000150 - PubMed: Romano 2013 - - Unknown ? - - - - DNA SEQ - - spastic ataxia Pt4 PubMed: Romano 2013 - ? ? - - - - - - 1 Bernard Brais
+?/? 8 c.826C>T r.(?) p.(Arg276Cys) Parent #1 - likely pathogenic g.23929925G>A g.23355786G>A 826C>T - SACS_000130 - PubMed: Prodi 2013 - - Germline ? - - - - DNA SEQ - - spastic ataxia P624 PubMed: Prodi 2013 - - ? Italy - - - - - 1 Bernard Brais
+?/? 8 c.826C>T r.(?) p.(Arg276Cys) Parent #1 - likely pathogenic g.23929925G>A g.23355786G>A 826C>T - SACS_000130 - PubMed: Prodi 2013 - - Germline ? - - - - DNA SEQ - - spastic ataxia P625 PubMed: Prodi 2013 - - ? Italy - - - - - 1 Bernard Brais
+/? 8 c.832C>T r.(?) p.(Gln278*) Parent #1 - pathogenic g.23929919G>A g.23355780G>A 832C>T - SACS_000139 - PubMed: Gazulla 2011 - - Unknown ? - - - - DNA SEQ - - spastic ataxia Pt3 PubMed: Gazulla 2011 - - no - - - - - - 1 Bernard Brais
+/? 8 c.832C>T r.(?) p.(Gln278*) Parent #1 - pathogenic g.23929919G>A g.23355780G>A 832C>T - SACS_000139 - PubMed: Gazulla 2011 - - Unknown ? - - - - DNA SEQ - - spastic ataxia Pt4 PubMed: Gazulla 2011 - - no - - - - - - 1 Bernard Brais
-/. - c.909A>G r.(?) p.(Ala303=) Unknown - benign g.23929842T>C g.23355703T>C SACS(NM_014363.5):c.909A>G (p.A303=) - SACS_000256 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.909A>G r.(?) p.(Ala303=) Unknown - benign g.23929842T>C g.23355703T>C SACS(NM_014363.5):c.909A>G (p.A303=) - SACS_000256 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.909A>G r.(=) p.(=) Parent #1 - likely benign g.23929842T>C g.23355703T>C - - SACS_000256 136 heterozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs41315020 Germline - 136/2795 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 136 Mohammed Faruq
-?/. - c.909A>G r.(=) p.(=) Both (homozygous) - likely benign g.23929842T>C g.23355703T>C - - SACS_000256 5 homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs41315020 Germline - 5/2795 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 5 Mohammed Faruq
+/? 8 c.922C>T r.(?) p.(Leu308Phe) Parent #1 - pathogenic g.23929829G>A g.23355690G>A 922C>T - SACS_000051 - PubMed: Takado 2007 - - Germline - - - - - DNA SEQ - - SACS 17290461-Fam1Pat1 PubMed: Takado 2007 family, 2 affecteds M yes Japan - - - - - 2 Bernard Brais
+/? 8 c.922C>T r.(?) p.(Leu308Phe) Parent #2 - pathogenic g.23929829G>A g.23355690G>A 922C>T - SACS_000051 - PubMed: Takado 2007 - - Germline - - - - - DNA SEQ - - SACS 17290461-Fam1Pat1 PubMed: Takado 2007 family, 2 affecteds M yes Japan - - - - - 2 Bernard Brais
+/? 8 c.922C>T r.(?) p.(Leu308Phe) Parent #1 - pathogenic g.23929829G>A g.23355690G>A 922C>T - SACS_000051 - PubMed: Takado 2007 - - Germline - - - - - DNA SEQ - - SACS 17290461-Fam1Pat2 PubMed: Takado 2007 family, 2 affecteds F yes Japan - - - - - 2 Bernard Brais
+/? 8 c.922C>T r.(?) p.(Leu308Phe) Parent #2 - pathogenic g.23929829G>A g.23355690G>A 922C>T - SACS_000051 - PubMed: Takado 2007 - - Germline - - - - - DNA SEQ - - SACS 17290461-Fam1Pat2 PubMed: Takado 2007 family, 2 affecteds F yes Japan - - - - - 2 Bernard Brais
?/. - c.956A>T r.(?) p.(Tyr319Phe) Unknown - VUS g.23929795T>A - SACS(NM_014363.6):c.956A>T (p.(Tyr319Phe)) - SACS_000436 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/? 8 c.961C>T r.(?) p.(Arg321*) Parent #2 - pathogenic g.23929790G>A g.23355651G>A p. Arg321* - SACS_000035 no domain PubMed: Vermeer 2008 - - Germline - - - - - DNA SEQ - - SACS 18465152-Fam13 PubMed: Vermeer 2008 - - no Netherlands - - - - - 1 Bernard Brais
+/? 8 c.961C>T r.(?) p.(Arg321*) Parent #2 - pathogenic g.23929790G>A g.23355651G>A p. Arg321* - SACS_000035 no domain PubMed: Vermeer 2008 - - Germline - - - - - DNA SEQ - - SACS 18465152-Fam15 PubMed: Vermeer 2008 - - no Netherlands - - - - - 1 Bernard Brais
+/? 8 c.961C>T r.(?) p.(Arg321*) Both (homozygous) - pathogenic g.23929790G>A g.23355651G>A 961C>T - SACS_000035 no domain PubMed: Prodi 2013 - - De novo - - - - - DNA SEQ - - SACS 22816526-PtP1506 PubMed: Prodi 2013 - - ? Italy - - - - - 1 Bernard Brais
?/. - c.972C>A r.(?) p.(Asp324Glu) Unknown - VUS g.23929779G>T g.23355640G>T SACS(NM_014363.5):c.972C>A (p.D324E) - SACS_000371 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.973G>A r.(?) p.(Gly325Arg) Unknown - VUS g.23929778C>T - SACS(NM_014363.6):c.973G>A (p.(Gly325Arg)) - SACS_000435 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.991_999del r.(?) p.(Phe331_Val333del) Unknown - VUS g.23929755_23929763del g.23355616_23355624del - - SACS_000350 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1037C>T r.(?) p.(Pro346Leu) Unknown - VUS g.23929714G>A g.23355575G>A SACS(NM_014363.5):c.1037C>T (p.P346L) - SACS_000349 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1159G>A r.(?) p.(Ala387Thr) Unknown - VUS g.23929592C>T g.23355453C>T SACS(NM_014363.6):c.1159G>A (p.A387T) - SACS_000365 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/? 8 c.1185_1194del r.(?) p.(Cys395Trpfs*13) Unknown - pathogenic g.23929562_23929571del g.23355423_23355432del g.32627_32636delACACTGTTAC, g.5581255821delgtaacagtgt - SACS_000015 in Rpt1/ARM-rpt PubMed: Ouyang 2006 - - Germline - - - - - DNA SEQ - - SACS SACS_15 PubMed: Ouyang 2006 - - ? Japan - - - - - 1 Bernard Brais
+/? 8 c.1189dup r.(?) p.(S397Kfs*405) Parent #2 - pathogenic g.23929562dup g.23355423dup 1190insA - SACS_000091 - PubMed: Thiffault 2012 - - Germline - - - - - DNA SEQ - - SACS 23250129-Pat10 PubMed: Thiffault 2012 - - ? Canada French Canadian - - - - 1 Bernard Brais
+/. 10 c.1201C>T r.(?) p.(Arg401*) Both (homozygous) - pathogenic (recessive) g.23929550G>A - - - SACS_000396 - - - - Germline yes - - - - DNA SEQ blood - SACS - - - M yes Egypt - - - - - 1 Sherifa Ahmed Hamed
+/. - c.1201C>T r.(?) p.(Arg401Ter) Both (homozygous) - pathogenic (recessive) g.23929550G>A g.23355411G>A - - SACS_000396 ACMG PVS1, PM2, PP1, PP3,PP5 PubMed: Saadi 2023 - rs769212398 Germline yes - - - - DNA SEQ, SEQ-NG - WES ? FamBPatV1 PubMed: Saadi 2023 5-generation family, affected sisters/brother, unaffected heterozygous parents/relatives F yes Pakistan - - - - - 3 Johan den Dunnen
+/. - c.1201C>T r.(?) p.(Arg401Ter) Both (homozygous) - pathogenic (recessive) g.23929550G>A g.23355411G>A - - SACS_000396 ACMG PVS1, PM2, PP1, PP3,PP5 PubMed: Saadi 2023 - rs769212398 Germline yes - - - - DNA SEQ, SEQ-NG - WES ? FamBPatV2 PubMed: Saadi 2023 sister F yes Pakistan - - - - - 1 Johan den Dunnen
+/. - c.1201C>T r.(?) p.(Arg401Ter) Both (homozygous) - pathogenic (recessive) g.23929550G>A g.23355411G>A - - SACS_000396 ACMG PVS1, PM2, PP1, PP3,PP5 PubMed: Saadi 2023 - rs769212398 Germline yes - - - - DNA SEQ, SEQ-NG - WES ? FamBPatV3 PubMed: Saadi 2023 brother M yes Pakistan - - - - - 1 Johan den Dunnen
+/. - c.1201C>T r.(?) p.(Arg401Ter) Parent #2 - pathogenic (recessive) g.23929550G>A g.23355411G>A NM_001278055:c.760C>T - SACS_000396 - PubMed: Salinas 2020 SUB7801298 - Germline - - - - - DNA SEQ-NG - gene panel ? Pat42 PubMed: Salinas 2020 patient F - - - - - - - 1 Johan den Dunnen
?/. - c.1219C>A r.(?) p.(Leu407Ile) Unknown - VUS g.23929532G>T - SACS(NM_014363.5):c.1219C>A (p.L407I), SACS(NM_014363.6):c.1219C>A (p.(Leu407Ile)) - SACS_000380 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1219C>A r.(?) p.(Leu407Ile) Unknown - VUS g.23929532G>T - SACS(NM_014363.5):c.1219C>A (p.L407I), SACS(NM_014363.6):c.1219C>A (p.(Leu407Ile)) - SACS_000380 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/? 8 c.1228_1229del r.(?) p.(Leu410Serfs*2) Parent #1 - pathogenic g.23929523_23929524del g.23355384_23355385del 1228_1229delTT - SACS_000114 - PubMed: Prodi 2013 - - De novo - - - - - DNA SEQ - - SACS 22816526-PtPPS232 PubMed: Prodi 2013 - - - Italy - - - - - 1 Bernard Brais
+/? 8 c.1229del r.(?) p.(Leu410*) Parent #1 - pathogenic g.23929524del g.23355385del 1229delT p.Leu410X - SACS_000171 - PubMed: Chen 2013 - - Unknown ? - - - - DNA SEQ - - spastic ataxia S1-II:1 PubMed: Chen 2013 - F ? - - - - - - 1 Bernard Brais
+/? 8 c.1229del r.(?) p.(Leu410*) Parent #1 - pathogenic g.23929524del g.23355385del 1229delT p.Leu410X - SACS_000171 - PubMed: Chen 2013 - - Unknown ? - - - - DNA SEQ - - spastic ataxia S1-II:2 PubMed: Chen 2013 - M ? - - - - - - 1 Bernard Brais
-?/. - c.1273C>A r.(?) p.(Pro425Thr) Unknown - likely benign g.23929478G>T g.23355339G>T SACS(NM_014363.5):c.1273C>A (p.P425T) - SACS_000255 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/? 8 c.1373C>T r.(?) p.(Thr458Ile) Parent #1 - pathogenic g.23929378G>A g.23355239G>A 1373C>T(p.T458I) - SACS_000152 - PubMed: Romano 2013 - - Unknown ? - - - - DNA SEQ - - spastic ataxia Pt6 PubMed: Romano 2013 - ? ? - - - - - - 1 Bernard Brais
?/? 8 c.1373C>T r.(?) p.(Thr458Ile) Both (homozygous) - VUS g.23929378G>A g.23355239G>A 1373C>T p.Thr458Ile - SACS_000152 - PubMed: Synofzik 2013 - - Unknown ? - - - - DNA SEQ - - spastic ataxia #10 PubMed: Synofzik 2013 - M yes Turkey - - - - - 1 Bernard Brais
?/? 8 c.1373C>T r.(?) p.(Thr458Ile) Parent #1 - VUS g.23929378G>A g.23355239G>A 1373C>T p.Thr458Ile - SACS_000152 - PubMed: Synofzik 2013 - - Unknown ? - - - - DNA SEQ - - spastic ataxia #11 PubMed: Synofzik 2013 - M no Germany - - - - - 1 Bernard Brais
+?/+? 8 c.1373C>T r.(?) p.(Thr458Ile) Unknown - likely pathogenic g.23929378G>A g.23355239G>A 1373C>T(p.T458I) - SACS_000152 - PubMed: Romano 2013 - - Unknown ? - - - - DNA SEQ - - spastic ataxia Case 1 PubMed: Romano 2013 - F ? - - - - - - 1 Bernard Brais
?/. - c.1373C>T r.(?) p.(Thr458Ile) Unknown - VUS g.23929378G>A g.23355239G>A SACS(NM_014363.5):c.1373C>T (p.T458I), SACS(NM_014363.6):c.1373C>T (p.T458I) - SACS_000152 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1373C>T r.(?) p.(Thr458Ile) Unknown - VUS g.23929378G>A g.23355239G>A SACS(NM_014363.5):c.1373C>T (p.T458I), SACS(NM_014363.6):c.1373C>T (p.T458I) - SACS_000152 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1373C>T r.(?) p.(Thr458Ile) Unknown - likely benign g.23929378G>A - SACS(NM_014363.5):c.1373C>T (p.T458I), SACS(NM_014363.6):c.1373C>T (p.T458I) - SACS_000152 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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