Disease associated variation - ClinVar Allele ID Type Name RS#dbSNP Phenotype IDs Chromosome Start Stop Reference Alternate 20551 deletion NM_014363.5(SACS):c.8844delT (p.Ile2949Phefs) 281865117 MedGen:C1849140,OMIM:270550,Orphanet:ORPHA98;MedGen:CN221809 13 23909171 23909171 A - 20551 deletion NM_014363.5(SACS):c.8844delT (p.Ile2949Phefs) 281865117 MedGen:C1849140,OMIM:270550,Orphanet:ORPHA98;MedGen:CN221809 13 23335032 23335032 A - 20552 single nucleotide variant NM_014363.5(SACS):c.7504C>T (p.Arg2502Ter) 281865118 MedGen:C1849140,OMIM:270550,Orphanet:ORPHA98 13 23910511 23910511 G A 20552 single nucleotide variant NM_014363.5(SACS):c.7504C>T (p.Arg2502Ter) 281865118 MedGen:C1849140,OMIM:270550,Orphanet:ORPHA98 13 23336372 23336372 G A 20553 single nucleotide variant NM_014363.5(SACS):c.12220G>C (p.Ala4074Pro) 137853016 MedGen:C1849140,OMIM:270550,Orphanet:ORPHA98 13 23905795 23905795 C G 20553 single nucleotide variant NM_014363.5(SACS):c.12220G>C (p.Ala4074Pro) 137853016 MedGen:C1849140,OMIM:270550,Orphanet:ORPHA98 13 23331656 23331656 C G 20554 deletion SACS, 1-BP DEL, 1411T -1 MedGen:C1849140,OMIM:270550,Orphanet:ORPHA98 na -1 -1 na na 20555 insertion SACS, 1-BP INS, 1155A -1 MedGen:C1849140,OMIM:270550,Orphanet:ORPHA98 na -1 -1 na na 20556 single nucleotide variant NM_014363.5(SACS):c.5836T>C (p.Trp1946Arg) 137853017 MedGen:C1849140,OMIM:270550,Orphanet:ORPHA98 13 23912179 23912179 A G 20556 single nucleotide variant NM_014363.5(SACS):c.5836T>C (p.Trp1946Arg) 137853017 MedGen:C1849140,OMIM:270550,Orphanet:ORPHA98 13 23338040 23338040 A G 20557 duplication NM_014363.5(SACS):c.4033dupC (p.Gln1345Profs) 606231163 MedGen:C1849140,OMIM:270550,Orphanet:ORPHA98 13 23339843 23339843 G GG 20557 duplication NM_014363.5(SACS):c.4033dupC (p.Gln1345Profs) 606231163 MedGen:C1849140,OMIM:270550,Orphanet:ORPHA98 13 23913982 23913982 G GG 20558 single nucleotide variant NM_014363.5(SACS):c.9742T>C (p.Trp3248Arg) 137853018 MedGen:C1849140,OMIM:270550,Orphanet:ORPHA98 13 23908273 23908273 A G 20558 single nucleotide variant NM_014363.5(SACS):c.9742T>C (p.Trp3248Arg) 137853018 MedGen:C1849140,OMIM:270550,Orphanet:ORPHA98 13 23334134 23334134 A G 20559 single nucleotide variant NM_014363.5(SACS):c.3161T>C (p.Phe1054Ser) 137853019 MedGen:C1849140,OMIM:270550,Orphanet:ORPHA98 13 23914854 23914854 A G 20559 single nucleotide variant NM_014363.5(SACS):c.3161T>C (p.Phe1054Ser) 137853019 MedGen:C1849140,OMIM:270550,Orphanet:ORPHA98 13 23340715 23340715 A G 20560 deletion SACS, 10-BP DEL, NT32627 -1 MedGen:C1849140,OMIM:270550,Orphanet:ORPHA98 na -1 -1 na na 20561 deletion SACS, 1-BP DEL, 31760T -1 MedGen:C1849140,OMIM:270550,Orphanet:ORPHA98 na -1 -1 na na 47015 single nucleotide variant NM_014363.5(SACS):c.10907G>A (p.Arg3636Gln) 281865119 MedGen:C1849140,OMIM:270550,Orphanet:ORPHA98 13 23907108 23907108 C T 47015 single nucleotide variant NM_014363.5(SACS):c.10907G>A (p.Arg3636Gln) 281865119 MedGen:C1849140,OMIM:270550,Orphanet:ORPHA98 13 23332969 23332969 C T 47016 single nucleotide variant NM_014363.5(SACS):c.12160C>T (p.Gln4054Ter) 281865120 MedGen:C1849140,OMIM:270550,Orphanet:ORPHA98 13 23905855 23905855 G A 47016 single nucleotide variant NM_014363.5(SACS):c.12160C>T (p.Gln4054Ter) 281865120 MedGen:C1849140,OMIM:270550,Orphanet:ORPHA98 13 23331716 23331716 G A 135646 single nucleotide variant NM_014363.5(SACS):c.10106T>C (p.Val3369Ala) 17078605 MedGen:C1849140,OMIM:270550,Orphanet:ORPHA98;MedGen:CN169374 13 23907909 23907909 A G 135646 single nucleotide variant NM_014363.5(SACS):c.10106T>C (p.Val3369Ala) 17078605 MedGen:C1849140,OMIM:270550,Orphanet:ORPHA98;MedGen:CN169374 13 23333770 23333770 A G 135647 single nucleotide variant NM_014363.5(SACS):c.10338G>A (p.Gln3446=) 2737701 MedGen:C1849140,OMIM:270550,Orphanet:ORPHA98;MedGen:CN169374 13 23907677 23907677 C T 135647 single nucleotide variant NM_014363.5(SACS):c.10338G>A (p.Gln3446=) 2737701 MedGen:C1849140,OMIM:270550,Orphanet:ORPHA98;MedGen:CN169374 13 23333538 23333538 C T 135648 single nucleotide variant NM_014363.5(SACS):c.12304T>C (p.Leu4102=) 2737699 MedGen:C1849140,OMIM:270550,Orphanet:ORPHA98;MedGen:CN169374 13 23905711 23905711 A G 135648 single nucleotide variant NM_014363.5(SACS):c.12304T>C (p.Leu4102=) 2737699 MedGen:C1849140,OMIM:270550,Orphanet:ORPHA98;MedGen:CN169374 13 23331572 23331572 A G 135649 single nucleotide variant NM_014363.5(SACS):c.1656A>G (p.Leu552=) 1536365 MedGen:C1849140,OMIM:270550,Orphanet:ORPHA98;MedGen:CN169374 13 23929095 23929095 T C 135649 single nucleotide variant NM_014363.5(SACS):c.1656A>G (p.Leu552=) 1536365 MedGen:C1849140,OMIM:270550,Orphanet:ORPHA98;MedGen:CN169374 13 23354956 23354956 T C 135650 single nucleotide variant NM_014363.5(SACS):c.6195T>C (p.Ile2065=) 4143768 MedGen:C1849140,OMIM:270550,Orphanet:ORPHA98;MedGen:CN169374 13 23911820 23911820 A G 135650 single nucleotide variant NM_014363.5(SACS):c.6195T>C (p.Ile2065=) 4143768 MedGen:C1849140,OMIM:270550,Orphanet:ORPHA98;MedGen:CN169374 13 23337681 23337681 A G 135651 single nucleotide variant NM_014363.5(SACS):c.696T>A (p.Asn232Lys) 2031640 MedGen:C1849140,OMIM:270550,Orphanet:ORPHA98;MedGen:CN169374 13 23930055 23930055 A T 135651 single nucleotide variant NM_014363.5(SACS):c.696T>A (p.Asn232Lys) 2031640 MedGen:C1849140,OMIM:270550,Orphanet:ORPHA98;MedGen:CN169374 13 23355916 23355916 A T 135652 single nucleotide variant NM_014363.5(SACS):c.8853T>C (p.Val2951=) 9552929 MedGen:C1849140,OMIM:270550,Orphanet:ORPHA98;MedGen:CN169374 13 23909162 23909162 A G 135652 single nucleotide variant NM_014363.5(SACS):c.8853T>C (p.Val2951=) 9552929 MedGen:C1849140,OMIM:270550,Orphanet:ORPHA98;MedGen:CN169374 13 23335023 23335023 A G 135653 single nucleotide variant NM_014363.5(SACS):c.9981T>C (p.Ala3327=) 2737700 MedGen:C1849140,OMIM:270550,Orphanet:ORPHA98;MedGen:CN169374 13 23908034 23908034 A G 135653 single nucleotide variant NM_014363.5(SACS):c.9981T>C (p.Ala3327=) 2737700 MedGen:C1849140,OMIM:270550,Orphanet:ORPHA98;MedGen:CN169374 13 23333895 23333895 A G 166123 single nucleotide variant NM_014363.5(SACS):c.414C>G (p.Tyr138Ter) 199474695 MedGen:CN221809 13 23365209 23365209 G C 166123 single nucleotide variant NM_014363.5(SACS):c.414C>G (p.Tyr138Ter) 199474695 MedGen:CN221809 13 23939348 23939348 G C 166124 deletion NM_014363.5(SACS):c.5263_5264delAA (p.Lys1755Valfs) 199474696 MedGen:CN221809 13 23338612 23338613 TT - 166124 deletion NM_014363.5(SACS):c.5263_5264delAA (p.Lys1755Valfs) 199474696 MedGen:CN221809 13 23912751 23912752 TT - 178390 single nucleotide variant NM_014363.5(SACS):c.3589T>C (p.Ser1197Pro) 727503785 MedGen:C1849140,OMIM:270550,Orphanet:ORPHA98 13 23914426 23914426 A G 178390 single nucleotide variant NM_014363.5(SACS):c.3589T>C (p.Ser1197Pro) 727503785 MedGen:C1849140,OMIM:270550,Orphanet:ORPHA98 13 23340287 23340287 A G 186865 single nucleotide variant NM_014363.5(SACS):c.12973C>T (p.Arg4325Ter) 762947018 MedGen:C1849140,OMIM:270550,Orphanet:ORPHA98 13 23330903 23330903 G A 186865 single nucleotide variant NM_014363.5(SACS):c.12973C>T (p.Arg4325Ter) 762947018 MedGen:C1849140,OMIM:270550,Orphanet:ORPHA98 13 23905042 23905042 G A 186866 deletion NM_014363.5(SACS):c.12851_12854delAGAG (p.Glu4284Alafs) 786204628 MedGen:C1849140,OMIM:270550,Orphanet:ORPHA98 13 23331022 23331025 CTCT - 186866 deletion NM_014363.5(SACS):c.12851_12854delAGAG (p.Glu4284Alafs) 786204628 MedGen:C1849140,OMIM:270550,Orphanet:ORPHA98 13 23905161 23905164 CTCT - 186867 single nucleotide variant NM_014363.5(SACS):c.12232C>T (p.Arg4078Ter) 141315518 MedGen:C1849140,OMIM:270550,Orphanet:ORPHA98 13 23905783 23905783 G A 186867 single nucleotide variant NM_014363.5(SACS):c.12232C>T (p.Arg4078Ter) 141315518 MedGen:C1849140,OMIM:270550,Orphanet:ORPHA98 13 23331644 23331644 G A 186868 deletion NM_014363.5(SACS):c.10466_10467delCT (p.Ser3489Leufs) 786204416 MedGen:C1849140,OMIM:270550,Orphanet:ORPHA98 13 23907548 23907549 AG - 186868 deletion NM_014363.5(SACS):c.10466_10467delCT (p.Ser3489Leufs) 786204416 MedGen:C1849140,OMIM:270550,Orphanet:ORPHA98 13 23333409 23333410 AG - 186869 single nucleotide variant NM_014363.5(SACS):c.7276C>T (p.Arg2426Ter) 786204750 MedGen:C1849140,OMIM:270550,Orphanet:ORPHA98 13 23336600 23336600 G A 186869 single nucleotide variant NM_014363.5(SACS):c.7276C>T (p.Arg2426Ter) 786204750 MedGen:C1849140,OMIM:270550,Orphanet:ORPHA98 13 23910739 23910739 G A 186870 duplication NM_014363.5(SACS):c.3328dupA (p.Ile1110Asnfs) 773840580 MedGen:C1849140,OMIM:270550,Orphanet:ORPHA98 13 23914687 23914687 T TT 186870 duplication NM_014363.5(SACS):c.3328dupA (p.Ile1110Asnfs) 773840580 MedGen:C1849140,OMIM:270550,Orphanet:ORPHA98 13 23340548 23340548 T TT 186871 deletion NM_014363.5(SACS):c.2439_2440delAT (p.Val815Glyfs) 775059063 MedGen:C1849140,OMIM:270550,Orphanet:ORPHA98 13 23915575 23915576 AT - 186871 deletion NM_014363.5(SACS):c.2439_2440delAT (p.Val815Glyfs) 775059063 MedGen:C1849140,OMIM:270550,Orphanet:ORPHA98 13 23341436 23341437 AT - 190869 single nucleotide variant NM_014363.5(SACS):c.4076T>C (p.Met1359Thr) 146451611 MedGen:CN169374 13 23913939 23913939 A G 190869 single nucleotide variant NM_014363.5(SACS):c.4076T>C (p.Met1359Thr) 146451611 MedGen:CN169374 13 23339800 23339800 A G 190870 single nucleotide variant NM_014363.5(SACS):c.13717A>C (p.Asn4573His) 34382952 MedGen:CN169374 13 23904298 23904298 T G 190870 single nucleotide variant NM_014363.5(SACS):c.13717A>C (p.Asn4573His) 34382952 MedGen:CN169374 13 23330159 23330159 T G 190871 single nucleotide variant NM_014363.5(SACS):c.8133G>A (p.Ser2711=) 143386746 MedGen:CN169374 13 23909882 23909882 C T 190871 single nucleotide variant NM_014363.5(SACS):c.8133G>A (p.Ser2711=) 143386746 MedGen:CN169374 13 23335743 23335743 C T 190872 single nucleotide variant NM_014363.5(SACS):c.2643G>C (p.Glu881Asp) 200517685 MedGen:C1849140,OMIM:270550,Orphanet:ORPHA98;MedGen:CN169374 13 23915372 23915372 C G 190872 single nucleotide variant NM_014363.5(SACS):c.2643G>C (p.Glu881Asp) 200517685 MedGen:C1849140,OMIM:270550,Orphanet:ORPHA98;MedGen:CN169374 13 23341233 23341233 C G 190873 single nucleotide variant NM_014363.5(SACS):c.8414C>T (p.Thr2805Ile) 772742353 MedGen:CN169374 13 23909601 23909601 G A 190873 single nucleotide variant NM_014363.5(SACS):c.8414C>T (p.Thr2805Ile) 772742353 MedGen:CN169374 13 23335462 23335462 G A 190874 single nucleotide variant NM_014363.5(SACS):c.8873A>G (p.Lys2958Arg) 11839380 MedGen:CN221809;MedGen:CN169374 13 23909142 23909142 T C 190874 single nucleotide variant NM_014363.5(SACS):c.8873A>G (p.Lys2958Arg) 11839380 MedGen:CN221809;MedGen:CN169374 13 23335003 23335003 T C 190875 single nucleotide variant NM_014363.5(SACS):c.3074A>T (p.Asn1025Ile) 150981983 MedGen:CN169374 13 23914941 23914941 T A 190875 single nucleotide variant NM_014363.5(SACS):c.3074A>T (p.Asn1025Ile) 150981983 MedGen:CN169374 13 23340802 23340802 T A 208022 deletion NM_014363.5(SACS):c.1919_1920delAC (p.His640Profs) 797045937 MedGen:C1849140,OMIM:270550,Orphanet:ORPHA98 13 23354692 23354693 GT - 208015 duplication NM_014363.5(SACS):c.13527dupA (p.Glu4510Argfs) 797045936 MedGen:C1849140,OMIM:270550,Orphanet:ORPHA98 13 23904488 23904488 T TT 208015 duplication NM_014363.5(SACS):c.13527dupA (p.Glu4510Argfs) 797045936 MedGen:C1849140,OMIM:270550,Orphanet:ORPHA98 13 23330349 23330349 T TT 208016 single nucleotide variant NM_014363.5(SACS):c.10982C>T (p.Ala3661Val) 36061856 MedGen:C1849140,OMIM:270550,Orphanet:ORPHA98;MedGen:C0037772;MedGen:CN169374 13 23907033 23907033 G A 208016 single nucleotide variant NM_014363.5(SACS):c.10982C>T (p.Ala3661Val) 36061856 MedGen:C1849140,OMIM:270550,Orphanet:ORPHA98;MedGen:C0037772;MedGen:CN169374 13 23332894 23332894 G A 208017 single nucleotide variant NM_014363.5(SACS):c.10906C>T (p.Arg3636Ter) 780247476 MedGen:C1849140,OMIM:270550,Orphanet:ORPHA98 13 23907109 23907109 G A 208017 single nucleotide variant NM_014363.5(SACS):c.10906C>T (p.Arg3636Ter) 780247476 MedGen:C1849140,OMIM:270550,Orphanet:ORPHA98 13 23332970 23332970 G A 208018 single nucleotide variant NM_014363.5(SACS):c.8393C>A (p.Pro2798Gln) 140551762 MedGen:C1849140,OMIM:270550,Orphanet:ORPHA98;MedGen:C0037772;MedGen:CN169374 13 23909622 23909622 G T 208018 single nucleotide variant NM_014363.5(SACS):c.8393C>A (p.Pro2798Gln) 140551762 MedGen:C1849140,OMIM:270550,Orphanet:ORPHA98;MedGen:C0037772;MedGen:CN169374 13 23335483 23335483 G T 208019 single nucleotide variant NM_014363.5(SACS):c.4466A>G (p.Asn1489Ser) 147099630 MedGen:CN169374 13 23339410 23339410 T C 208019 single nucleotide variant NM_014363.5(SACS):c.4466A>G (p.Asn1489Ser) 147099630 MedGen:CN169374 13 23913549 23913549 T C 208020 indel NM_014363.5(SACS):c.4117_4118delGCinsCT (p.Ala1373Leu) 797045938 MedGen:CN169374 13 23913897 23913898 GC AG 208020 indel NM_014363.5(SACS):c.4117_4118delGCinsCT (p.Ala1373Leu) 797045938 MedGen:CN169374 13 23339758 23339759 GC AG 208021 single nucleotide variant NM_014363.5(SACS):c.3427C>A (p.Gln1143Lys) 144267558 MedGen:C1849140,OMIM:270550,Orphanet:ORPHA98;MedGen:CN169374 13 23914588 23914588 G T 208021 single nucleotide variant NM_014363.5(SACS):c.3427C>A (p.Gln1143Lys) 144267558 MedGen:C1849140,OMIM:270550,Orphanet:ORPHA98;MedGen:CN169374 13 23340449 23340449 G T 208022 deletion NM_014363.5(SACS):c.1919_1920delAC (p.His640Profs) 797045937 MedGen:C1849140,OMIM:270550,Orphanet:ORPHA98 13 23928831 23928832 GT - 209354 duplication NM_014363.5(SACS):c.8848_8849dupCA (p.Val2951Metfs) 797044608 MedGen:C1849140,OMIM:270550,Orphanet:ORPHA98 13 23909166 23909167 TG TGTG 209354 duplication NM_014363.5(SACS):c.8848_8849dupCA (p.Val2951Metfs) 797044608 MedGen:C1849140,OMIM:270550,Orphanet:ORPHA98 13 23335027 23335028 TG TGTG 213625 single nucleotide variant NM_014363.5(SACS):c.11624G>A (p.Arg3875His) 863224916 MedGen:C1849140,OMIM:270550,Orphanet:ORPHA98 13 23906391 23906391 C T 213625 single nucleotide variant NM_014363.5(SACS):c.11624G>A (p.Arg3875His) 863224916 MedGen:C1849140,OMIM:270550,Orphanet:ORPHA98 13 23332252 23332252 C T 215463 single nucleotide variant NM_014363.5(SACS):c.2983G>T (p.Val995Phe) 142967124 MedGen:C0037772;MedGen:CN169374 13 23340893 23340893 C A 215463 single nucleotide variant NM_014363.5(SACS):c.2983G>T (p.Val995Phe) 142967124 MedGen:C0037772;MedGen:CN169374 13 23915032 23915032 C A 230438 deletion NM_014363.5(SACS):c.8542_8543delTT (p.Phe2848Profs) 876657721 MedGen:C1849140,OMIM:270550,Orphanet:ORPHA98 13 23909472 23909473 AA - 230438 deletion NM_014363.5(SACS):c.8542_8543delTT (p.Phe2848Profs) 876657721 MedGen:C1849140,OMIM:270550,Orphanet:ORPHA98 13 23335333 23335334 AA - 230439 duplication NM_014363.5(SACS):c.7641dupA (p.Glu2548Argfs) 876657720 MedGen:C1849140,OMIM:270550,Orphanet:ORPHA98 13 23910374 23910374 T TT 230439 duplication NM_014363.5(SACS):c.7641dupA (p.Glu2548Argfs) 876657720 MedGen:C1849140,OMIM:270550,Orphanet:ORPHA98 13 23336235 23336235 T TT 237032 single nucleotide variant NM_014363.5(SACS):c.8344G>A (p.Ala2782Thr) 61742502 MedGen:CN221809 13 23909671 23909671 C T 237032 single nucleotide variant NM_014363.5(SACS):c.8344G>A (p.Ala2782Thr) 61742502 MedGen:CN221809 13 23335532 23335532 C T 237066 single nucleotide variant NM_014363.5(SACS):c.4118C>T (p.Ala1373Val) 61548169 MedGen:CN221809;MedGen:CN169374 13 23913897 23913897 G A 237066 single nucleotide variant NM_014363.5(SACS):c.4118C>T (p.Ala1373Val) 61548169 MedGen:CN221809;MedGen:CN169374 13 23339758 23339758 G A 237288 single nucleotide variant NM_014363.5(SACS):c.12649A>G (p.Asn4217Asp) 35799469 MedGen:C1849140,OMIM:270550,Orphanet:ORPHA98;MedGen:C0037772;MedGen:CN221809;MedGen:CN169374 13 23905366 23905366 T C 237288 single nucleotide variant NM_014363.5(SACS):c.12649A>G (p.Asn4217Asp) 35799469 MedGen:C1849140,OMIM:270550,Orphanet:ORPHA98;MedGen:C0037772;MedGen:CN221809;MedGen:CN169374 13 23331227 23331227 T C 241615 single nucleotide variant NM_014363.5(SACS):c.12597A>G (p.Pro4199=) 112630127 MedGen:C1849140,OMIM:270550,Orphanet:ORPHA98;MedGen:C0037772 13 23331279 23331279 T C 241615 single nucleotide variant NM_014363.5(SACS):c.12597A>G (p.Pro4199=) 112630127 MedGen:C1849140,OMIM:270550,Orphanet:ORPHA98;MedGen:C0037772 13 23905418 23905418 T C 241616 single nucleotide variant NM_014363.5(SACS):c.11688G>A (p.Arg3896=) 116791509 MedGen:C1849140,OMIM:270550,Orphanet:ORPHA98;MedGen:C0037772 13 23906327 23906327 C T 241616 single nucleotide variant NM_014363.5(SACS):c.11688G>A (p.Arg3896=) 116791509 MedGen:C1849140,OMIM:270550,Orphanet:ORPHA98;MedGen:C0037772 13 23332188 23332188 C T 241617 single nucleotide variant NM_014363.5(SACS):c.10821C>A (p.Ile3607=) 113595574 MedGen:C0037772 13 23333055 23333055 G T 241617 single nucleotide variant NM_014363.5(SACS):c.10821C>A (p.Ile3607=) 113595574 MedGen:C0037772 13 23907194 23907194 G T 241618 single nucleotide variant NM_014363.5(SACS):c.10708A>T (p.Ile3570Leu) 878854977 MedGen:C0037772 13 23333168 23333168 T A 241618 single nucleotide variant NM_014363.5(SACS):c.10708A>T (p.Ile3570Leu) 878854977 MedGen:C0037772 13 23907307 23907307 T A 241619 single nucleotide variant NM_014363.5(SACS):c.10611A>G (p.Ala3537=) 137856939 MedGen:C1849140,OMIM:270550,Orphanet:ORPHA98;MedGen:C0037772 13 23333265 23333265 T C 241619 single nucleotide variant NM_014363.5(SACS):c.10611A>G (p.Ala3537=) 137856939 MedGen:C1849140,OMIM:270550,Orphanet:ORPHA98;MedGen:C0037772 13 23907404 23907404 T C 241620 single nucleotide variant NM_014363.5(SACS):c.10572A>G (p.Leu3524=) 878854976 MedGen:C0037772 13 23333304 23333304 T C 241620 single nucleotide variant NM_014363.5(SACS):c.10572A>G (p.Leu3524=) 878854976 MedGen:C0037772 13 23907443 23907443 T C 241621 single nucleotide variant NM_014363.5(SACS):c.9292A>G (p.Ile3098Val) 745664974 MedGen:C0037772 13 23908723 23908723 T C 241621 single nucleotide variant NM_014363.5(SACS):c.9292A>G (p.Ile3098Val) 745664974 MedGen:C0037772 13 23334584 23334584 T C 241622 single nucleotide variant NM_014363.5(SACS):c.9031A>G (p.Ile3011Val) 377657177 MedGen:C1849140,OMIM:270550,Orphanet:ORPHA98;MedGen:C0037772 13 23334845 23334845 T C 241622 single nucleotide variant NM_014363.5(SACS):c.9031A>G (p.Ile3011Val) 377657177 MedGen:C1849140,OMIM:270550,Orphanet:ORPHA98;MedGen:C0037772 13 23908984 23908984 T C 241623 indel NM_014363.5(SACS):c.8344_8345delGCinsAT (p.Ala2782Ile) 386768924 MedGen:C0037772 13 23335531 23335532 GC AT 241623 indel NM_014363.5(SACS):c.8344_8345delGCinsAT (p.Ala2782Ile) 386768924 MedGen:C0037772 13 23909670 23909671 GC AT 241624 single nucleotide variant NM_014363.5(SACS):c.8339T>G (p.Phe2780Cys) 111540787 MedGen:C1849140,OMIM:270550,Orphanet:ORPHA98;MedGen:C0037772;MedGen:CN169374 13 23909676 23909676 A C 241624 single nucleotide variant NM_014363.5(SACS):c.8339T>G (p.Phe2780Cys) 111540787 MedGen:C1849140,OMIM:270550,Orphanet:ORPHA98;MedGen:C0037772;MedGen:CN169374 13 23335537 23335537 A C 241625 single nucleotide variant NM_014363.5(SACS):c.6781C>A (p.Leu2261Ile) 146722795 MedGen:C1849140,OMIM:270550,Orphanet:ORPHA98;MedGen:C0037772 13 23911234 23911234 G T 241625 single nucleotide variant NM_014363.5(SACS):c.6781C>A (p.Leu2261Ile) 146722795 MedGen:C1849140,OMIM:270550,Orphanet:ORPHA98;MedGen:C0037772 13 23337095 23337095 G T 241626 single nucleotide variant NM_014363.5(SACS):c.5848G>A (p.Asp1950Asn) 370902090 MedGen:C0037772 13 23338028 23338028 C T 241626 single nucleotide variant NM_014363.5(SACS):c.5848G>A (p.Asp1950Asn) 370902090 MedGen:C0037772 13 23912167 23912167 C T 241627 single nucleotide variant NM_014363.5(SACS):c.3391C>T (p.Leu1131Phe) 139805032 MedGen:C0037772 13 23340485 23340485 G A 241627 single nucleotide variant NM_014363.5(SACS):c.3391C>T (p.Leu1131Phe) 139805032 MedGen:C0037772 13 23914624 23914624 G A 241628 single nucleotide variant NM_014363.5(SACS):c.3129A>G (p.Ser1043=) 148878361 MedGen:C1849140,OMIM:270550,Orphanet:ORPHA98;MedGen:C0037772;MedGen:CN169374 13 23340747 23340747 T C 241628 single nucleotide variant NM_014363.5(SACS):c.3129A>G (p.Ser1043=) 148878361 MedGen:C1849140,OMIM:270550,Orphanet:ORPHA98;MedGen:C0037772;MedGen:CN169374 13 23914886 23914886 T C 241629 single nucleotide variant NM_014363.5(SACS):c.2988A>G (p.Leu996=) 111846884 MedGen:C0037772;MedGen:CN169374 13 23340888 23340888 T C 241629 single nucleotide variant NM_014363.5(SACS):c.2988A>G (p.Leu996=) 111846884 MedGen:C0037772;MedGen:CN169374 13 23915027 23915027 T C 241630 single nucleotide variant NM_014363.5(SACS):c.2427G>A (p.Glu809=) 878854978 MedGen:C0037772 13 23341449 23341449 C T 241630 single nucleotide variant NM_014363.5(SACS):c.2427G>A (p.Glu809=) 878854978 MedGen:C0037772 13 23915588 23915588 C T 241631 single nucleotide variant NM_014363.5(SACS):c.2080G>A (p.Ala694Thr) 17325713 MedGen:C0037772;MedGen:CN169374 13 23354532 23354532 C T 241631 single nucleotide variant NM_014363.5(SACS):c.2080G>A (p.Ala694Thr) 17325713 MedGen:C0037772;MedGen:CN169374 13 23928671 23928671 C T 254831 single nucleotide variant NM_014363.5(SACS):c.11032C>G (p.Pro3678Ala) 17078601 MedGen:C1849140,OMIM:270550,Orphanet:ORPHA98;MedGen:CN169374 13 23332844 23332844 G C 254831 single nucleotide variant NM_014363.5(SACS):c.11032C>G (p.Pro3678Ala) 17078601 MedGen:C1849140,OMIM:270550,Orphanet:ORPHA98;MedGen:CN169374 13 23906983 23906983 G C 254832 single nucleotide variant NM_014363.5(SACS):c.10972C>T (p.Arg3658Trp) 115155117 MedGen:CN169374 13 23332904 23332904 G A 254832 single nucleotide variant NM_014363.5(SACS):c.10972C>T (p.Arg3658Trp) 115155117 MedGen:CN169374 13 23907043 23907043 G A 254833 single nucleotide variant NM_014363.5(SACS):c.8345C>T (p.Ala2782Val) 61742500 MedGen:CN169374 13 23335531 23335531 G A 254833 single nucleotide variant NM_014363.5(SACS):c.8345C>T (p.Ala2782Val) 61742500 MedGen:CN169374 13 23909670 23909670 G A 254834 single nucleotide variant NM_014363.5(SACS):c.7528G>A (p.Ala2510Thr) 111920492 MedGen:CN169374 13 23910487 23910487 C T 254834 single nucleotide variant NM_014363.5(SACS):c.7528G>A (p.Ala2510Thr) 111920492 MedGen:CN169374 13 23336348 23336348 C T 254835 single nucleotide variant NM_014363.5(SACS):c.2721G>A (p.Leu907=) 140118958 MedGen:CN169374 13 23915294 23915294 C T 254835 single nucleotide variant NM_014363.5(SACS):c.2721G>A (p.Leu907=) 140118958 MedGen:CN169374 13 23341155 23341155 C T 254836 single nucleotide variant NM_014363.5(SACS):c.2094-14C>T 886038601 MedGen:CN169374 13 23928029 23928029 G A 254836 single nucleotide variant NM_014363.5(SACS):c.2094-14C>T 886038601 MedGen:CN169374 13 23353890 23353890 G A 254837 single nucleotide variant NM_014363.5(SACS):c.1839G>A (p.Gln613=) 35840595 MedGen:C1849140,OMIM:270550,Orphanet:ORPHA98;MedGen:CN169374 13 23928912 23928912 C T 254837 single nucleotide variant NM_014363.5(SACS):c.1839G>A (p.Gln613=) 35840595 MedGen:C1849140,OMIM:270550,Orphanet:ORPHA98;MedGen:CN169374 13 23354773 23354773 C T 254838 single nucleotide variant NM_014363.5(SACS):c.909A>G (p.Ala303=) 41315020 MedGen:C1849140,OMIM:270550,Orphanet:ORPHA98;MedGen:CN169374 13 23929842 23929842 T C 254838 single nucleotide variant NM_014363.5(SACS):c.909A>G (p.Ala303=) 41315020 MedGen:C1849140,OMIM:270550,Orphanet:ORPHA98;MedGen:CN169374 13 23355703 23355703 T C 254839 single nucleotide variant NM_014363.5(SACS):c.346-47G>A 9510706 MedGen:CN169374 13 23939463 23939463 C T 254839 single nucleotide variant NM_014363.5(SACS):c.346-47G>A 9510706 MedGen:CN169374 13 23365324 23365324 C T 254840 single nucleotide variant NM_014363.5(SACS):c.345+35T>C 886038602 MedGen:CN169374 13 23368367 23368367 A G 254840 single nucleotide variant NM_014363.5(SACS):c.345+35T>C 886038602 MedGen:CN169374 13 23942506 23942506 A G 254841 single nucleotide variant NM_014363.5(SACS):c.171+13C>T 374672041 MedGen:C1849140,OMIM:270550,Orphanet:ORPHA98;MedGen:CN169374 13 23949245 23949245 G A 254841 single nucleotide variant NM_014363.5(SACS):c.171+13C>T 374672041 MedGen:C1849140,OMIM:270550,Orphanet:ORPHA98;MedGen:CN169374 13 23375106 23375106 G A 254842 single nucleotide variant NM_014363.5(SACS):c.171+6C>T 3751368 MedGen:C1849140,OMIM:270550,Orphanet:ORPHA98;MedGen:CN169374 13 23949252 23949252 G A 254842 single nucleotide variant NM_014363.5(SACS):c.171+6C>T 3751368 MedGen:C1849140,OMIM:270550,Orphanet:ORPHA98;MedGen:CN169374 13 23375113 23375113 G A 254843 single nucleotide variant NM_014363.5(SACS):c.-13A>G 17078720 MedGen:C1849140,OMIM:270550,Orphanet:ORPHA98;MedGen:CN169374 13 23411252 23411252 T C 254843 single nucleotide variant NM_014363.5(SACS):c.-13A>G 17078720 MedGen:C1849140,OMIM:270550,Orphanet:ORPHA98;MedGen:CN169374 13 23985391 23985391 T C 264512 single nucleotide variant NM_014363.5(SACS):c.2182C>T (p.Arg728Ter) 752059006 MedGen:CN221809 13 23927927 23927927 G A 264512 single nucleotide variant NM_014363.5(SACS):c.2182C>T (p.Arg728Ter) 752059006 MedGen:CN221809 13 23353788 23353788 G A 264659 single nucleotide variant NM_014363.5(SACS):c.9508C>T (p.Arg3170Ter) 202199411 MedGen:C1849140,OMIM:270550,Orphanet:ORPHA98;MedGen:CN221809 13 23908507 23908507 G A 264659 single nucleotide variant NM_014363.5(SACS):c.9508C>T (p.Arg3170Ter) 202199411 MedGen:C1849140,OMIM:270550,Orphanet:ORPHA98;MedGen:CN221809 13 23334368 23334368 G A 264664 single nucleotide variant NM_014363.5(SACS):c.9305T>A (p.Leu3102Ter) 886041949 MedGen:CN221809 13 23908710 23908710 A T 264664 single nucleotide variant NM_014363.5(SACS):c.9305T>A (p.Leu3102Ter) 886041949 MedGen:CN221809 13 23334571 23334571 A T 264725 deletion NM_014363.5(SACS):c.4877_4880delGCTG (p.Gly1626Valfs) 757872635 MedGen:CN221809 13 23913135 23913138 CAGC - 264725 deletion NM_014363.5(SACS):c.4877_4880delGCTG (p.Gly1626Valfs) 757872635 MedGen:CN221809 13 23338996 23338999 CAGC - 264733 single nucleotide variant NM_014363.5(SACS):c.4598C>G (p.Ser1533Ter) 886041813 MedGen:CN221809 13 23913417 23913417 G C 264733 single nucleotide variant NM_014363.5(SACS):c.4598C>G (p.Ser1533Ter) 886041813 MedGen:CN221809 13 23339278 23339278 G C 265443 single nucleotide variant NM_014363.5(SACS):c.2996T>C (p.Ile999Thr) 371869943 MedGen:CN169374 13 23915019 23915019 A G 265443 single nucleotide variant NM_014363.5(SACS):c.2996T>C (p.Ile999Thr) 371869943 MedGen:CN169374 13 23340880 23340880 A G 266622 single nucleotide variant NM_014363.5(SACS):c.1373C>T (p.Thr458Ile) 61729954 MedGen:CN169374 13 23929378 23929378 G A 266622 single nucleotide variant NM_014363.5(SACS):c.1373C>T (p.Thr458Ile) 61729954 MedGen:CN169374 13 23355239 23355239 G A 267143 single nucleotide variant NM_014363.5(SACS):c.3752T>C (p.Ile1251Thr) 76872266 MedGen:C1849140,OMIM:270550,Orphanet:ORPHA98;MedGen:CN169374 13 23914263 23914263 A G 267143 single nucleotide variant NM_014363.5(SACS):c.3752T>C (p.Ile1251Thr) 76872266 MedGen:C1849140,OMIM:270550,Orphanet:ORPHA98;MedGen:CN169374 13 23340124 23340124 A G 268016 single nucleotide variant NM_014363.5(SACS):c.4188C>T (p.His1396=) 61754477 MedGen:C1849140,OMIM:270550,Orphanet:ORPHA98;MedGen:CN169374 13 23913827 23913827 G A 268016 single nucleotide variant NM_014363.5(SACS):c.4188C>T (p.His1396=) 61754477 MedGen:C1849140,OMIM:270550,Orphanet:ORPHA98;MedGen:CN169374 13 23339688 23339688 G A 268019 single nucleotide variant NM_014363.5(SACS):c.6267G>A (p.Ser2089=) 9550956 MedGen:C1849140,OMIM:270550,Orphanet:ORPHA98;MedGen:CN169374 13 23911748 23911748 C T 268019 single nucleotide variant NM_014363.5(SACS):c.6267G>A (p.Ser2089=) 9550956 MedGen:C1849140,OMIM:270550,Orphanet:ORPHA98;MedGen:CN169374 13 23337609 23337609 C T 268254 single nucleotide variant NM_014363.5(SACS):c.9731T>A (p.Leu3244His) 886042769 MedGen:CN169374 13 23908284 23908284 A T 268254 single nucleotide variant NM_014363.5(SACS):c.9731T>A (p.Leu3244His) 886042769 MedGen:CN169374 13 23334145 23334145 A T 269478 single nucleotide variant NM_014363.5(SACS):c.7140T>A (p.Asn2380Lys) 61754478 MedGen:CN169374 13 23910875 23910875 A T 269478 single nucleotide variant NM_014363.5(SACS):c.7140T>A (p.Asn2380Lys) 61754478 MedGen:CN169374 13 23336736 23336736 A T 269480 single nucleotide variant NM_014363.5(SACS):c.8022T>C (p.Phe2674=) 34928783 MedGen:CN169374 13 23909993 23909993 A G 269480 single nucleotide variant NM_014363.5(SACS):c.8022T>C (p.Phe2674=) 34928783 MedGen:CN169374 13 23335854 23335854 A G 270758 single nucleotide variant NM_014363.5(SACS):c.10274A>G (p.Lys3425Arg) 147317123 MedGen:C1849140,OMIM:270550,Orphanet:ORPHA98;MedGen:CN169374 13 23907741 23907741 T C 270758 single nucleotide variant NM_014363.5(SACS):c.10274A>G (p.Lys3425Arg) 147317123 MedGen:C1849140,OMIM:270550,Orphanet:ORPHA98;MedGen:CN169374 13 23333602 23333602 T C 271278 single nucleotide variant NM_014363.5(SACS):c.4469C>G (p.Ala1490Gly) 886043557 MedGen:CN169374 13 23913546 23913546 G C 271278 single nucleotide variant NM_014363.5(SACS):c.4469C>G (p.Ala1490Gly) 886043557 MedGen:CN169374 13 23339407 23339407 G C 271448 single nucleotide variant NM_014363.5(SACS):c.6240T>C (p.Val2080=) 550680855 MedGen:CN169374 13 23911775 23911775 A G 271448 single nucleotide variant NM_014363.5(SACS):c.6240T>C (p.Val2080=) 550680855 MedGen:CN169374 13 23337636 23337636 A G 271537 single nucleotide variant NM_014363.5(SACS):c.1917A>G (p.Ala639=) 138457742 MedGen:CN169374 13 23928834 23928834 T C 271537 single nucleotide variant NM_014363.5(SACS):c.1917A>G (p.Ala639=) 138457742 MedGen:CN169374 13 23354695 23354695 T C 271538 single nucleotide variant NM_014363.5(SACS):c.1066A>C (p.Ile356Leu) 148286091 MedGen:CN169374 13 23929685 23929685 T G 271538 single nucleotide variant NM_014363.5(SACS):c.1066A>C (p.Ile356Leu) 148286091 MedGen:CN169374 13 23355546 23355546 T G 271539 single nucleotide variant NM_014363.5(SACS):c.9852A>G (p.Thr3284=) 147506904 MedGen:CN169374 13 23908163 23908163 T C 271539 single nucleotide variant NM_014363.5(SACS):c.9852A>G (p.Thr3284=) 147506904 MedGen:CN169374 13 23334024 23334024 T C 271755 single nucleotide variant NM_014363.5(SACS):c.11703T>C (p.Asn3901=) 146154135 MedGen:CN169374 13 23906312 23906312 A G 271755 single nucleotide variant NM_014363.5(SACS):c.11703T>C (p.Asn3901=) 146154135 MedGen:CN169374 13 23332173 23332173 A G 271929 single nucleotide variant NM_014363.5(SACS):c.12028C>T (p.Gln4010Ter) 148297332 MedGen:C1849140,OMIM:270550,Orphanet:ORPHA98 13 23905987 23905987 G A 271929 single nucleotide variant NM_014363.5(SACS):c.12028C>T (p.Gln4010Ter) 148297332 MedGen:C1849140,OMIM:270550,Orphanet:ORPHA98 13 23331848 23331848 G A 272413 indel NM_014363.5(SACS):c.10461_10462delTCinsAA (p.Asn3487_Leu3488delinsLysIle) 886043821 MedGen:CN169374 13 23907553 23907554 GA TT 272413 indel NM_014363.5(SACS):c.10461_10462delTCinsAA (p.Asn3487_Leu3488delinsLysIle) 886043821 MedGen:CN169374 13 23333414 23333415 GA TT 272475 single nucleotide variant NM_014363.5(SACS):c.6008A>T (p.Asp2003Val) 537408260 MedGen:C1849140,OMIM:270550,Orphanet:ORPHA98;MedGen:CN169374 13 23912007 23912007 T A 272475 single nucleotide variant NM_014363.5(SACS):c.6008A>T (p.Asp2003Val) 537408260 MedGen:C1849140,OMIM:270550,Orphanet:ORPHA98;MedGen:CN169374 13 23337868 23337868 T A 274191 single nucleotide variant NM_014363.5(SACS):c.7466C>A (p.Pro2489His) 766553685 MedGen:CN169374 13 23910549 23910549 G T 274191 single nucleotide variant NM_014363.5(SACS):c.7466C>A (p.Pro2489His) 766553685 MedGen:CN169374 13 23336410 23336410 G T 274201 single nucleotide variant NM_014363.5(SACS):c.11152G>A (p.Glu3718Lys) 750040557 MedGen:CN169374 13 23906863 23906863 C T 274201 single nucleotide variant NM_014363.5(SACS):c.11152G>A (p.Glu3718Lys) 750040557 MedGen:CN169374 13 23332724 23332724 C T 274745 single nucleotide variant NM_014363.5(SACS):c.13036G>A (p.Asp4346Asn) 372359781 MedGen:CN169374 13 23904979 23904979 C T 274745 single nucleotide variant NM_014363.5(SACS):c.13036G>A (p.Asp4346Asn) 372359781 MedGen:CN169374 13 23330840 23330840 C T 275105 single nucleotide variant NM_014363.5(SACS):c.4279C>A (p.Pro1427Thr) 527513599 MedGen:CN169374 13 23913736 23913736 G T 275105 single nucleotide variant NM_014363.5(SACS):c.4279C>A (p.Pro1427Thr) 527513599 MedGen:CN169374 13 23339597 23339597 G T 319230 single nucleotide variant NM_014363.5(SACS):c.10896A>G (p.Ile3632Met) 35256065 MedGen:C1849140,OMIM:270550,Orphanet:ORPHA98 13 23907119 23907119 T C 319230 single nucleotide variant NM_014363.5(SACS):c.10896A>G (p.Ile3632Met) 35256065 MedGen:C1849140,OMIM:270550,Orphanet:ORPHA98 13 23332980 23332980 T C 319234 single nucleotide variant NM_014363.5(SACS):c.8379G>A (p.Gln2793=) 776028181 MedGen:C1849140,OMIM:270550,Orphanet:ORPHA98 13 23335497 23335497 C T 319234 single nucleotide variant NM_014363.5(SACS):c.8379G>A (p.Gln2793=) 776028181 MedGen:C1849140,OMIM:270550,Orphanet:ORPHA98 13 23909636 23909636 C T 319236 single nucleotide variant NM_014363.5(SACS):c.7535A>G (p.Asn2512Ser) 777424692 MedGen:C1849140,OMIM:270550,Orphanet:ORPHA98 13 23336341 23336341 T C 319236 single nucleotide variant NM_014363.5(SACS):c.7535A>G (p.Asn2512Ser) 777424692 MedGen:C1849140,OMIM:270550,Orphanet:ORPHA98 13 23910480 23910480 T C 319237 single nucleotide variant NM_014363.5(SACS):c.7527T>C (p.Tyr2509=) 140034972 MedGen:C1849140,OMIM:270550,Orphanet:ORPHA98 13 23336349 23336349 A G 319237 single nucleotide variant NM_014363.5(SACS):c.7527T>C (p.Tyr2509=) 140034972 MedGen:C1849140,OMIM:270550,Orphanet:ORPHA98 13 23910488 23910488 A G 319239 single nucleotide variant NM_014363.5(SACS):c.6643T>C (p.Phe2215Leu) 886050083 MedGen:C1849140,OMIM:270550,Orphanet:ORPHA98 13 23337233 23337233 A G 319239 single nucleotide variant NM_014363.5(SACS):c.6643T>C (p.Phe2215Leu) 886050083 MedGen:C1849140,OMIM:270550,Orphanet:ORPHA98 13 23911372 23911372 A G 319247 single nucleotide variant NM_014363.5(SACS):c.6634A>G (p.Thr2212Ala) 556248979 MedGen:C1849140,OMIM:270550,Orphanet:ORPHA98 13 23337242 23337242 T C 319247 single nucleotide variant NM_014363.5(SACS):c.6634A>G (p.Thr2212Ala) 556248979 MedGen:C1849140,OMIM:270550,Orphanet:ORPHA98 13 23911381 23911381 T C 319248 single nucleotide variant NM_014363.5(SACS):c.6577G>A (p.Asp2193Asn) 149278134 MedGen:C1849140,OMIM:270550,Orphanet:ORPHA98 13 23337299 23337299 C T 319248 single nucleotide variant NM_014363.5(SACS):c.6577G>A (p.Asp2193Asn) 149278134 MedGen:C1849140,OMIM:270550,Orphanet:ORPHA98 13 23911438 23911438 C T 319252 single nucleotide variant NM_014363.5(SACS):c.6059G>A (p.Gly2020Glu) 747566710 MedGen:C1849140,OMIM:270550,Orphanet:ORPHA98 13 23911956 23911956 C T 319252 single nucleotide variant NM_014363.5(SACS):c.6059G>A (p.Gly2020Glu) 747566710 MedGen:C1849140,OMIM:270550,Orphanet:ORPHA98 13 23337817 23337817 C T 319256 single nucleotide variant NM_014363.5(SACS):c.5932G>A (p.Val1978Ile) 373812430 MedGen:C1849140,OMIM:270550,Orphanet:ORPHA98 13 23912083 23912083 C T 319256 single nucleotide variant NM_014363.5(SACS):c.5932G>A (p.Val1978Ile) 373812430 MedGen:C1849140,OMIM:270550,Orphanet:ORPHA98 13 23337944 23337944 C T 319260 single nucleotide variant NM_014363.5(SACS):c.5930A>G (p.Lys1977Arg) 774492331 MedGen:C1849140,OMIM:270550,Orphanet:ORPHA98 13 23912085 23912085 T C 319260 single nucleotide variant NM_014363.5(SACS):c.5930A>G (p.Lys1977Arg) 774492331 MedGen:C1849140,OMIM:270550,Orphanet:ORPHA98 13 23337946 23337946 T C 319261 single nucleotide variant NM_014363.5(SACS):c.5302C>T (p.His1768Tyr) 758381112 MedGen:C1849140,OMIM:270550,Orphanet:ORPHA98 13 23912713 23912713 G A 319261 single nucleotide variant NM_014363.5(SACS):c.5302C>T (p.His1768Tyr) 758381112 MedGen:C1849140,OMIM:270550,Orphanet:ORPHA98 13 23338574 23338574 G A 319264 single nucleotide variant NM_014363.5(SACS):c.4302A>G (p.Leu1434=) 34559250 MedGen:C1849140,OMIM:270550,Orphanet:ORPHA98 13 23913713 23913713 T C 319264 single nucleotide variant NM_014363.5(SACS):c.4302A>G (p.Leu1434=) 34559250 MedGen:C1849140,OMIM:270550,Orphanet:ORPHA98 13 23339574 23339574 T C 319268 single nucleotide variant NM_014363.5(SACS):c.3557T>C (p.Met1186Thr) 886050087 MedGen:C1849140,OMIM:270550,Orphanet:ORPHA98 13 23914458 23914458 A G 319268 single nucleotide variant NM_014363.5(SACS):c.3557T>C (p.Met1186Thr) 886050087 MedGen:C1849140,OMIM:270550,Orphanet:ORPHA98 13 23340319 23340319 A G 319270 single nucleotide variant NM_014363.5(SACS):c.3345C>T (p.Val1115=) 143287019 MedGen:C1849140,OMIM:270550,Orphanet:ORPHA98 13 23914670 23914670 G A 319270 single nucleotide variant NM_014363.5(SACS):c.3345C>T (p.Val1115=) 143287019 MedGen:C1849140,OMIM:270550,Orphanet:ORPHA98 13 23340531 23340531 G A 319277 single nucleotide variant NM_014363.5(SACS):c.3042A>G (p.Leu1014=) 141982796 MedGen:C1849140,OMIM:270550,Orphanet:ORPHA98 13 23914973 23914973 T C 319277 single nucleotide variant NM_014363.5(SACS):c.3042A>G (p.Leu1014=) 141982796 MedGen:C1849140,OMIM:270550,Orphanet:ORPHA98 13 23340834 23340834 T C 319284 single nucleotide variant NM_014363.5(SACS):c.2497G>A (p.Glu833Lys) 143433500 MedGen:C1849140,OMIM:270550,Orphanet:ORPHA98 13 23341379 23341379 C T 319284 single nucleotide variant NM_014363.5(SACS):c.2497G>A (p.Glu833Lys) 143433500 MedGen:C1849140,OMIM:270550,Orphanet:ORPHA98 13 23915518 23915518 C T 319296 single nucleotide variant NM_014363.5(SACS):c.1278A>T (p.Leu426Phe) 138413501 MedGen:C1849140,OMIM:270550,Orphanet:ORPHA98 13 23355334 23355334 T A 319296 single nucleotide variant NM_014363.5(SACS):c.1278A>T (p.Leu426Phe) 138413501 MedGen:C1849140,OMIM:270550,Orphanet:ORPHA98 13 23929473 23929473 T A 319297 single nucleotide variant NM_014363.5(SACS):c.1173T>C (p.Ser391=) 150683286 MedGen:C1849140,OMIM:270550,Orphanet:ORPHA98 13 23355439 23355439 A G 319297 single nucleotide variant NM_014363.5(SACS):c.1173T>C (p.Ser391=) 150683286 MedGen:C1849140,OMIM:270550,Orphanet:ORPHA98 13 23929578 23929578 A G 319301 single nucleotide variant NM_014363.5(SACS):c.1081A>G (p.Lys361Glu) 377027736 MedGen:C1849140,OMIM:270550,Orphanet:ORPHA98 13 23355531 23355531 T C 319301 single nucleotide variant NM_014363.5(SACS):c.1081A>G (p.Lys361Glu) 377027736 MedGen:C1849140,OMIM:270550,Orphanet:ORPHA98 13 23929670 23929670 T C 319304 single nucleotide variant NM_014363.5(SACS):c.944A>G (p.Asp315Gly) 771115225 MedGen:C1849140,OMIM:270550,Orphanet:ORPHA98 13 23355668 23355668 T C 319304 single nucleotide variant NM_014363.5(SACS):c.944A>G (p.Asp315Gly) 771115225 MedGen:C1849140,OMIM:270550,Orphanet:ORPHA98 13 23929807 23929807 T C 319307 single nucleotide variant NM_014363.5(SACS):c.-59C>A 150561537 MedGen:C1849140,OMIM:270550,Orphanet:ORPHA98 13 23985437 23985437 G T 319307 single nucleotide variant NM_014363.5(SACS):c.-59C>A 150561537 MedGen:C1849140,OMIM:270550,Orphanet:ORPHA98 13 23411298 23411298 G T 319310 single nucleotide variant NM_014363.5(SACS):c.-331A>C 560626127 MedGen:C1849140,OMIM:270550,Orphanet:ORPHA98 13 23985709 23985709 T G 319310 single nucleotide variant NM_014363.5(SACS):c.-331A>C 560626127 MedGen:C1849140,OMIM:270550,Orphanet:ORPHA98 13 23411570 23411570 T G 319312 single nucleotide variant NM_014363.5(SACS):c.-489G>A 886050091 MedGen:C1849140,OMIM:270550,Orphanet:ORPHA98 13 23985867 23985867 C T 319312 single nucleotide variant NM_014363.5(SACS):c.-489G>A 886050091 MedGen:C1849140,OMIM:270550,Orphanet:ORPHA98 13 23411728 23411728 C T 327755 single nucleotide variant NM_014363.5(SACS):c.*1292A>T 147476665 MedGen:C1849140,OMIM:270550,Orphanet:ORPHA98 13 23328844 23328844 T A 327755 single nucleotide variant NM_014363.5(SACS):c.*1292A>T 147476665 MedGen:C1849140,OMIM:270550,Orphanet:ORPHA98 13 23902983 23902983 T A 327757 single nucleotide variant NM_014363.5(SACS):c.*1200A>G 558041482 MedGen:C1849140,OMIM:270550,Orphanet:ORPHA98 13 23903075 23903075 T C 327757 single nucleotide variant NM_014363.5(SACS):c.*1200A>G 558041482 MedGen:C1849140,OMIM:270550,Orphanet:ORPHA98 13 23328936 23328936 T C 327764 single nucleotide variant NM_014363.5(SACS):c.12700T>C (p.Tyr4234His) 886050073 MedGen:C1849140,OMIM:270550,Orphanet:ORPHA98 13 23905315 23905315 A G 327764 single nucleotide variant NM_014363.5(SACS):c.12700T>C (p.Tyr4234His) 886050073 MedGen:C1849140,OMIM:270550,Orphanet:ORPHA98 13 23331176 23331176 A G 327767 single nucleotide variant NM_014363.5(SACS):c.11792A>G (p.Lys3931Arg) 764554878 MedGen:C1849140,OMIM:270550,Orphanet:ORPHA98 13 23906223 23906223 T C 327767 single nucleotide variant NM_014363.5(SACS):c.11792A>G (p.Lys3931Arg) 764554878 MedGen:C1849140,OMIM:270550,Orphanet:ORPHA98 13 23332084 23332084 T C 327771 single nucleotide variant NM_014363.5(SACS):c.10064T>G (p.Ile3355Arg) 372488932 MedGen:C1849140,OMIM:270550,Orphanet:ORPHA98 13 23333812 23333812 A C 327771 single nucleotide variant NM_014363.5(SACS):c.10064T>G (p.Ile3355Arg) 372488932 MedGen:C1849140,OMIM:270550,Orphanet:ORPHA98 13 23907951 23907951 A C 327774 single nucleotide variant NM_014363.5(SACS):c.8577C>T (p.His2859=) 140016265 MedGen:C1849140,OMIM:270550,Orphanet:ORPHA98 13 23335299 23335299 G A 327774 single nucleotide variant NM_014363.5(SACS):c.8577C>T (p.His2859=) 140016265 MedGen:C1849140,OMIM:270550,Orphanet:ORPHA98 13 23909438 23909438 G A 327775 single nucleotide variant NM_014363.5(SACS):c.7165G>A (p.Val2389Met) 142869943 MedGen:C1849140,OMIM:270550,Orphanet:ORPHA98 13 23336711 23336711 C T 327775 single nucleotide variant NM_014363.5(SACS):c.7165G>A (p.Val2389Met) 142869943 MedGen:C1849140,OMIM:270550,Orphanet:ORPHA98 13 23910850 23910850 C T 327789 single nucleotide variant NM_014363.5(SACS):c.6754G>T (p.Asp2252Tyr) 886050082 MedGen:C1849140,OMIM:270550,Orphanet:ORPHA98 13 23337122 23337122 C A 327789 single nucleotide variant NM_014363.5(SACS):c.6754G>T (p.Asp2252Tyr) 886050082 MedGen:C1849140,OMIM:270550,Orphanet:ORPHA98 13 23911261 23911261 C A 327791 single nucleotide variant NM_014363.5(SACS):c.6451T>G (p.Leu2151Val) 886050084 MedGen:C1849140,OMIM:270550,Orphanet:ORPHA98 13 23911564 23911564 A C 327791 single nucleotide variant NM_014363.5(SACS):c.6451T>G (p.Leu2151Val) 886050084 MedGen:C1849140,OMIM:270550,Orphanet:ORPHA98 13 23337425 23337425 A C 327792 single nucleotide variant NM_014363.5(SACS):c.6069C>T (p.Asn2023=) 35369023 MedGen:C1849140,OMIM:270550,Orphanet:ORPHA98 13 23911946 23911946 G A 327792 single nucleotide variant NM_014363.5(SACS):c.6069C>T (p.Asn2023=) 35369023 MedGen:C1849140,OMIM:270550,Orphanet:ORPHA98 13 23337807 23337807 G A 327794 single nucleotide variant NM_014363.5(SACS):c.5841C>T (p.Pro1947=) 145371235 MedGen:C1849140,OMIM:270550,Orphanet:ORPHA98 13 23912174 23912174 G A 327794 single nucleotide variant NM_014363.5(SACS):c.5841C>T (p.Pro1947=) 145371235 MedGen:C1849140,OMIM:270550,Orphanet:ORPHA98 13 23338035 23338035 G A 327804 single nucleotide variant NM_014363.5(SACS):c.4117G>C (p.Ala1373Pro) 61326562 MedGen:C1849140,OMIM:270550,Orphanet:ORPHA98 13 23339759 23339759 C G 327804 single nucleotide variant NM_014363.5(SACS):c.4117G>C (p.Ala1373Pro) 61326562 MedGen:C1849140,OMIM:270550,Orphanet:ORPHA98 13 23913898 23913898 C G 327806 single nucleotide variant NM_014363.5(SACS):c.3144A>G (p.Val1048=) 3751369 MedGen:C1849140,OMIM:270550,Orphanet:ORPHA98 13 23914871 23914871 T C 327806 single nucleotide variant NM_014363.5(SACS):c.3144A>G (p.Val1048=) 3751369 MedGen:C1849140,OMIM:270550,Orphanet:ORPHA98 13 23340732 23340732 T C 327809 single nucleotide variant NM_014363.5(SACS):c.2788A>G (p.Ile930Val) 886050088 MedGen:C1849140,OMIM:270550,Orphanet:ORPHA98 13 23341088 23341088 T C 327809 single nucleotide variant NM_014363.5(SACS):c.2788A>G (p.Ile930Val) 886050088 MedGen:C1849140,OMIM:270550,Orphanet:ORPHA98 13 23915227 23915227 T C 327812 single nucleotide variant NM_014363.5(SACS):c.2487C>T (p.Asp829=) 151198216 MedGen:C1849140,OMIM:270550,Orphanet:ORPHA98 13 23341389 23341389 G A 327812 single nucleotide variant NM_014363.5(SACS):c.2487C>T (p.Asp829=) 151198216 MedGen:C1849140,OMIM:270550,Orphanet:ORPHA98 13 23915528 23915528 G A 327815 single nucleotide variant NM_014363.5(SACS):c.2110C>A (p.Leu704Ile) 767844042 MedGen:C1849140,OMIM:270550,Orphanet:ORPHA98 13 23353860 23353860 G T 327815 single nucleotide variant NM_014363.5(SACS):c.2110C>A (p.Leu704Ile) 767844042 MedGen:C1849140,OMIM:270550,Orphanet:ORPHA98 13 23927999 23927999 G T 327819 single nucleotide variant NM_014363.5(SACS):c.1640C>T (p.Pro547Leu) 140507581 MedGen:C1849140,OMIM:270550,Orphanet:ORPHA98 13 23354972 23354972 G A 327819 single nucleotide variant NM_014363.5(SACS):c.1640C>T (p.Pro547Leu) 140507581 MedGen:C1849140,OMIM:270550,Orphanet:ORPHA98 13 23929111 23929111 G A 327821 single nucleotide variant NM_014363.5(SACS):c.1066A>G (p.Ile356Val) 148286091 MedGen:C1849140,OMIM:270550,Orphanet:ORPHA98 13 23929685 23929685 T C 327821 single nucleotide variant NM_014363.5(SACS):c.1066A>G (p.Ile356Val) 148286091 MedGen:C1849140,OMIM:270550,Orphanet:ORPHA98 13 23355546 23355546 T C 327823 single nucleotide variant NM_014363.5(SACS):c.736C>G (p.Gln246Glu) 886050089 MedGen:C1849140,OMIM:270550,Orphanet:ORPHA98 13 23355876 23355876 G C 327823 single nucleotide variant NM_014363.5(SACS):c.736C>G (p.Gln246Glu) 886050089 MedGen:C1849140,OMIM:270550,Orphanet:ORPHA98 13 23930015 23930015 G C 327826 single nucleotide variant NM_014363.5(SACS):c.-173C>A 139517739 MedGen:C1849140,OMIM:270550,Orphanet:ORPHA98 13 23411412 23411412 G T 327826 single nucleotide variant NM_014363.5(SACS):c.-173C>A 139517739 MedGen:C1849140,OMIM:270550,Orphanet:ORPHA98 13 23985551 23985551 G T 334023 single nucleotide variant NM_014363.5(SACS):c.*942A>G 886050068 MedGen:C1849140,OMIM:270550,Orphanet:ORPHA98 13 23903333 23903333 T C 334023 single nucleotide variant NM_014363.5(SACS):c.*942A>G 886050068 MedGen:C1849140,OMIM:270550,Orphanet:ORPHA98 13 23329194 23329194 T C 334031 single nucleotide variant NM_014363.5(SACS):c.*882A>C 886050069 MedGen:C1849140,OMIM:270550,Orphanet:ORPHA98 13 23903393 23903393 T G 334031 single nucleotide variant NM_014363.5(SACS):c.*882A>C 886050069 MedGen:C1849140,OMIM:270550,Orphanet:ORPHA98 13 23329254 23329254 T G 334033 single nucleotide variant NM_014363.5(SACS):c.12438G>A (p.Ser4146=) 150959878 MedGen:C1849140,OMIM:270550,Orphanet:ORPHA98 13 23905577 23905577 C T 334033 single nucleotide variant NM_014363.5(SACS):c.12438G>A (p.Ser4146=) 150959878 MedGen:C1849140,OMIM:270550,Orphanet:ORPHA98 13 23331438 23331438 C T 334035 single nucleotide variant NM_014363.5(SACS):c.12216T>A (p.Thr4072=) 574182225 MedGen:C1849140,OMIM:270550,Orphanet:ORPHA98 13 23905799 23905799 A T 334035 single nucleotide variant NM_014363.5(SACS):c.12216T>A (p.Thr4072=) 574182225 MedGen:C1849140,OMIM:270550,Orphanet:ORPHA98 13 23331660 23331660 A T 334037 single nucleotide variant NM_014363.5(SACS):c.12063T>C (p.His4021=) 886050074 MedGen:C1849140,OMIM:270550,Orphanet:ORPHA98 13 23905952 23905952 A G 334037 single nucleotide variant NM_014363.5(SACS):c.12063T>C (p.His4021=) 886050074 MedGen:C1849140,OMIM:270550,Orphanet:ORPHA98 13 23331813 23331813 A G 334038 single nucleotide variant NM_014363.5(SACS):c.11928T>C (p.Ser3976=) 145680118 MedGen:C1849140,OMIM:270550,Orphanet:ORPHA98 13 23906087 23906087 A G 334038 single nucleotide variant NM_014363.5(SACS):c.11928T>C (p.Ser3976=) 145680118 MedGen:C1849140,OMIM:270550,Orphanet:ORPHA98 13 23331948 23331948 A G 334044 single nucleotide variant NM_014363.5(SACS):c.11409G>T (p.Trp3803Cys) 886050075 MedGen:C1849140,OMIM:270550,Orphanet:ORPHA98 13 23906606 23906606 C A 334044 single nucleotide variant NM_014363.5(SACS):c.11409G>T (p.Trp3803Cys) 886050075 MedGen:C1849140,OMIM:270550,Orphanet:ORPHA98 13 23332467 23332467 C A 334045 single nucleotide variant NM_014363.5(SACS):c.10967C>G (p.Pro3656Arg) 886050076 MedGen:C1849140,OMIM:270550,Orphanet:ORPHA98 13 23907048 23907048 G C 334045 single nucleotide variant NM_014363.5(SACS):c.10967C>G (p.Pro3656Arg) 886050076 MedGen:C1849140,OMIM:270550,Orphanet:ORPHA98 13 23332909 23332909 G C 334046 single nucleotide variant NM_014363.5(SACS):c.10443C>G (p.Leu3481=) 144087359 MedGen:C1849140,OMIM:270550,Orphanet:ORPHA98 13 23333433 23333433 G C 334046 single nucleotide variant NM_014363.5(SACS):c.10443C>G (p.Leu3481=) 144087359 MedGen:C1849140,OMIM:270550,Orphanet:ORPHA98 13 23907572 23907572 G C 334062 single nucleotide variant NM_014363.5(SACS):c.8341C>G (p.His2781Asp) 886050080 MedGen:C1849140,OMIM:270550,Orphanet:ORPHA98 13 23335535 23335535 G C 334062 single nucleotide variant NM_014363.5(SACS):c.8341C>G (p.His2781Asp) 886050080 MedGen:C1849140,OMIM:270550,Orphanet:ORPHA98 13 23909674 23909674 G C 334069 single nucleotide variant NM_014363.5(SACS):c.8056C>T (p.Leu2686=) 748595405 MedGen:C1849140,OMIM:270550,Orphanet:ORPHA98 13 23335820 23335820 G A 334069 single nucleotide variant NM_014363.5(SACS):c.8056C>T (p.Leu2686=) 748595405 MedGen:C1849140,OMIM:270550,Orphanet:ORPHA98 13 23909959 23909959 G A 334070 single nucleotide variant NM_014363.5(SACS):c.7647T>G (p.Leu2549=) 186301471 MedGen:C1849140,OMIM:270550,Orphanet:ORPHA98 13 23336229 23336229 A C 334070 single nucleotide variant NM_014363.5(SACS):c.7647T>G (p.Leu2549=) 186301471 MedGen:C1849140,OMIM:270550,Orphanet:ORPHA98 13 23910368 23910368 A C 334072 single nucleotide variant NM_014363.5(SACS):c.6561C>T (p.Ile2187=) 143477126 MedGen:C1849140,OMIM:270550,Orphanet:ORPHA98 13 23337315 23337315 G A 334072 single nucleotide variant NM_014363.5(SACS):c.6561C>T (p.Ile2187=) 143477126 MedGen:C1849140,OMIM:270550,Orphanet:ORPHA98 13 23911454 23911454 G A 334075 single nucleotide variant NM_014363.5(SACS):c.5222C>T (p.Thr1741Ile) 201724656 MedGen:C1849140,OMIM:270550,Orphanet:ORPHA98 13 23912793 23912793 G A 334075 single nucleotide variant NM_014363.5(SACS):c.5222C>T (p.Thr1741Ile) 201724656 MedGen:C1849140,OMIM:270550,Orphanet:ORPHA98 13 23338654 23338654 G A 334081 single nucleotide variant NM_014363.5(SACS):c.4976T>G (p.Val1659Gly) 886050085 MedGen:C1849140,OMIM:270550,Orphanet:ORPHA98 13 23913039 23913039 A C 334081 single nucleotide variant NM_014363.5(SACS):c.4976T>G (p.Val1659Gly) 886050085 MedGen:C1849140,OMIM:270550,Orphanet:ORPHA98 13 23338900 23338900 A C 334084 single nucleotide variant NM_014363.5(SACS):c.3868G>T (p.Ala1290Ser) 757939935 MedGen:C1849140,OMIM:270550,Orphanet:ORPHA98 13 23914147 23914147 C A 334084 single nucleotide variant NM_014363.5(SACS):c.3868G>T (p.Ala1290Ser) 757939935 MedGen:C1849140,OMIM:270550,Orphanet:ORPHA98 13 23340008 23340008 C A 334087 single nucleotide variant NM_014363.5(SACS):c.3545C>T (p.Ala1182Val) 373859681 MedGen:C1849140,OMIM:270550,Orphanet:ORPHA98 13 23340331 23340331 G A 334087 single nucleotide variant NM_014363.5(SACS):c.3545C>T (p.Ala1182Val) 373859681 MedGen:C1849140,OMIM:270550,Orphanet:ORPHA98 13 23914470 23914470 G A 334088 single nucleotide variant NM_014363.5(SACS):c.1608G>A (p.Pro536=) 745730439 MedGen:C1849140,OMIM:270550,Orphanet:ORPHA98 13 23355004 23355004 C T 334088 single nucleotide variant NM_014363.5(SACS):c.1608G>A (p.Pro536=) 745730439 MedGen:C1849140,OMIM:270550,Orphanet:ORPHA98 13 23929143 23929143 C T 334089 single nucleotide variant NM_014363.5(SACS):c.1463C>T (p.Pro488Leu) 375875022 MedGen:C1849140,OMIM:270550,Orphanet:ORPHA98 13 23355149 23355149 G A 334089 single nucleotide variant NM_014363.5(SACS):c.1463C>T (p.Pro488Leu) 375875022 MedGen:C1849140,OMIM:270550,Orphanet:ORPHA98 13 23929288 23929288 G A 334090 single nucleotide variant NM_014363.5(SACS):c.1224C>T (p.Asp408=) 2274386 MedGen:C1849140,OMIM:270550,Orphanet:ORPHA98 13 23355388 23355388 G A 334090 single nucleotide variant NM_014363.5(SACS):c.1224C>T (p.Asp408=) 2274386 MedGen:C1849140,OMIM:270550,Orphanet:ORPHA98 13 23929527 23929527 G A 334097 single nucleotide variant NM_014363.5(SACS):c.47G>T (p.Gly16Val) 886050090 MedGen:C1849140,OMIM:270550,Orphanet:ORPHA98 13 23375243 23375243 C A 334097 single nucleotide variant NM_014363.5(SACS):c.47G>T (p.Gly16Val) 886050090 MedGen:C1849140,OMIM:270550,Orphanet:ORPHA98 13 23949382 23949382 C A 334098 single nucleotide variant NM_014363.5(SACS):c.-219A>G 74495070 MedGen:C1849140,OMIM:270550,Orphanet:ORPHA98 13 23985597 23985597 T C 334098 single nucleotide variant NM_014363.5(SACS):c.-219A>G 74495070 MedGen:C1849140,OMIM:270550,Orphanet:ORPHA98 13 23411458 23411458 T C 334113 single nucleotide variant NM_014363.5(SACS):c.-367C>A 145469796 MedGen:C1849140,OMIM:270550,Orphanet:ORPHA98 13 23985745 23985745 G T 334113 single nucleotide variant NM_014363.5(SACS):c.-367C>A 145469796 MedGen:C1849140,OMIM:270550,Orphanet:ORPHA98 13 23411606 23411606 G T 334120 single nucleotide variant NM_014363.5(SACS):c.-470C>T 748973703 MedGen:C1849140,OMIM:270550,Orphanet:ORPHA98 13 23985848 23985848 G A 334120 single nucleotide variant NM_014363.5(SACS):c.-470C>T 748973703 MedGen:C1849140,OMIM:270550,Orphanet:ORPHA98 13 23411709 23411709 G A 334127 single nucleotide variant NM_014363.5(SACS):c.-531G>A 73154650 MedGen:C1849140,OMIM:270550,Orphanet:ORPHA98 13 24007783 24007783 C T 334127 single nucleotide variant NM_014363.5(SACS):c.-531G>A 73154650 MedGen:C1849140,OMIM:270550,Orphanet:ORPHA98 13 23433644 23433644 C T 335653 single nucleotide variant NM_014363.5(SACS):c.*307A>G 576860445 MedGen:C1849140,OMIM:270550,Orphanet:ORPHA98 13 23903968 23903968 T C 335653 single nucleotide variant NM_014363.5(SACS):c.*307A>G 576860445 MedGen:C1849140,OMIM:270550,Orphanet:ORPHA98 13 23329829 23329829 T C 335661 single nucleotide variant NM_014363.5(SACS):c.13512A>G (p.Ala4504=) 886050070 MedGen:C1849140,OMIM:270550,Orphanet:ORPHA98 13 23904503 23904503 T C 335661 single nucleotide variant NM_014363.5(SACS):c.13512A>G (p.Ala4504=) 886050070 MedGen:C1849140,OMIM:270550,Orphanet:ORPHA98 13 23330364 23330364 T C 335665 single nucleotide variant NM_014363.5(SACS):c.13282T>G (p.Tyr4428Asp) 886050071 MedGen:C1849140,OMIM:270550,Orphanet:ORPHA98 13 23904733 23904733 A C 335665 single nucleotide variant NM_014363.5(SACS):c.13282T>G (p.Tyr4428Asp) 886050071 MedGen:C1849140,OMIM:270550,Orphanet:ORPHA98 13 23330594 23330594 A C 335666 single nucleotide variant NM_014363.5(SACS):c.13031A>G (p.Asn4344Ser) 886050072 MedGen:C1849140,OMIM:270550,Orphanet:ORPHA98 13 23904984 23904984 T C 335666 single nucleotide variant NM_014363.5(SACS):c.13031A>G (p.Asn4344Ser) 886050072 MedGen:C1849140,OMIM:270550,Orphanet:ORPHA98 13 23330845 23330845 T C 335669 single nucleotide variant NM_014363.5(SACS):c.10716C>G (p.Pro3572=) 886050077 MedGen:C1849140,OMIM:270550,Orphanet:ORPHA98 13 23333160 23333160 G C 335669 single nucleotide variant NM_014363.5(SACS):c.10716C>G (p.Pro3572=) 886050077 MedGen:C1849140,OMIM:270550,Orphanet:ORPHA98 13 23907299 23907299 G C 335670 single nucleotide variant NM_014363.5(SACS):c.10699G>A (p.Glu3567Lys) 886050078 MedGen:C1849140,OMIM:270550,Orphanet:ORPHA98 13 23333177 23333177 C T 335670 single nucleotide variant NM_014363.5(SACS):c.10699G>A (p.Glu3567Lys) 886050078 MedGen:C1849140,OMIM:270550,Orphanet:ORPHA98 13 23907316 23907316 C T 335683 single nucleotide variant NM_014363.5(SACS):c.10576A>G (p.Ile3526Val) 199881455 MedGen:C1849140,OMIM:270550,Orphanet:ORPHA98 13 23333300 23333300 T C 335683 single nucleotide variant NM_014363.5(SACS):c.10576A>G (p.Ile3526Val) 199881455 MedGen:C1849140,OMIM:270550,Orphanet:ORPHA98 13 23907439 23907439 T C 335684 single nucleotide variant NM_014363.5(SACS):c.9887C>T (p.Pro3296Leu) 779195622 MedGen:C1849140,OMIM:270550,Orphanet:ORPHA98 13 23333989 23333989 G A 335684 single nucleotide variant NM_014363.5(SACS):c.9887C>T (p.Pro3296Leu) 779195622 MedGen:C1849140,OMIM:270550,Orphanet:ORPHA98 13 23908128 23908128 G A 335688 single nucleotide variant NM_014363.5(SACS):c.8990G>A (p.Arg2997Gln) 139670073 MedGen:C1849140,OMIM:270550,Orphanet:ORPHA98 13 23334886 23334886 C T 335688 single nucleotide variant NM_014363.5(SACS):c.8990G>A (p.Arg2997Gln) 139670073 MedGen:C1849140,OMIM:270550,Orphanet:ORPHA98 13 23909025 23909025 C T 335691 single nucleotide variant NM_014363.5(SACS):c.8755G>T (p.Ala2919Ser) 886050079 MedGen:C1849140,OMIM:270550,Orphanet:ORPHA98 13 23335121 23335121 C A 335691 single nucleotide variant NM_014363.5(SACS):c.8755G>T (p.Ala2919Ser) 886050079 MedGen:C1849140,OMIM:270550,Orphanet:ORPHA98 13 23909260 23909260 C A 335693 single nucleotide variant NM_014363.5(SACS):c.8022T>G (p.Phe2674Leu) 34928783 MedGen:C1849140,OMIM:270550,Orphanet:ORPHA98 13 23335854 23335854 A C 335693 single nucleotide variant NM_014363.5(SACS):c.8022T>G (p.Phe2674Leu) 34928783 MedGen:C1849140,OMIM:270550,Orphanet:ORPHA98 13 23909993 23909993 A C 335696 single nucleotide variant NM_014363.5(SACS):c.7857T>C (p.Thr2619=) 886050081 MedGen:C1849140,OMIM:270550,Orphanet:ORPHA98 13 23336019 23336019 A G 335696 single nucleotide variant NM_014363.5(SACS):c.7857T>C (p.Thr2619=) 886050081 MedGen:C1849140,OMIM:270550,Orphanet:ORPHA98 13 23910158 23910158 A G 335698 single nucleotide variant NM_014363.5(SACS):c.7713A>T (p.Pro2571=) 557113294 MedGen:C1849140,OMIM:270550,Orphanet:ORPHA98 13 23336163 23336163 T A 335698 single nucleotide variant NM_014363.5(SACS):c.7713A>T (p.Pro2571=) 557113294 MedGen:C1849140,OMIM:270550,Orphanet:ORPHA98 13 23910302 23910302 T A 335699 single nucleotide variant NM_014363.5(SACS):c.6952G>A (p.Ala2318Thr) 147949881 MedGen:C1849140,OMIM:270550,Orphanet:ORPHA98 13 23336924 23336924 C T 335699 single nucleotide variant NM_014363.5(SACS):c.6952G>A (p.Ala2318Thr) 147949881 MedGen:C1849140,OMIM:270550,Orphanet:ORPHA98 13 23911063 23911063 C T 335701 single nucleotide variant NM_014363.5(SACS):c.4936C>A (p.Leu1646Met) 200810800 MedGen:C1849140,OMIM:270550,Orphanet:ORPHA98 13 23913079 23913079 G T 335701 single nucleotide variant NM_014363.5(SACS):c.4936C>A (p.Leu1646Met) 200810800 MedGen:C1849140,OMIM:270550,Orphanet:ORPHA98 13 23338940 23338940 G T 335705 single nucleotide variant NM_014363.5(SACS):c.3615C>T (p.Ile1205=) 886050086 MedGen:C1849140,OMIM:270550,Orphanet:ORPHA98 13 23914400 23914400 G A 335705 single nucleotide variant NM_014363.5(SACS):c.3615C>T (p.Ile1205=) 886050086 MedGen:C1849140,OMIM:270550,Orphanet:ORPHA98 13 23340261 23340261 G A 335708 single nucleotide variant NM_014363.5(SACS):c.2681C>T (p.Ser894Leu) 201857647 MedGen:C1849140,OMIM:270550,Orphanet:ORPHA98 13 23341195 23341195 G A 335708 single nucleotide variant NM_014363.5(SACS):c.2681C>T (p.Ser894Leu) 201857647 MedGen:C1849140,OMIM:270550,Orphanet:ORPHA98 13 23915334 23915334 G A 335716 single nucleotide variant NM_014363.5(SACS):c.1912T>G (p.Cys638Gly) 200333323 MedGen:C1849140,OMIM:270550,Orphanet:ORPHA98 13 23354700 23354700 A C 335716 single nucleotide variant NM_014363.5(SACS):c.1912T>G (p.Cys638Gly) 200333323 MedGen:C1849140,OMIM:270550,Orphanet:ORPHA98 13 23928839 23928839 A C 335718 single nucleotide variant NM_014363.5(SACS):c.1728C>T (p.Tyr576=) 750748828 MedGen:C1849140,OMIM:270550,Orphanet:ORPHA98 13 23354884 23354884 G A 335718 single nucleotide variant NM_014363.5(SACS):c.1728C>T (p.Tyr576=) 750748828 MedGen:C1849140,OMIM:270550,Orphanet:ORPHA98 13 23929023 23929023 G A 335721 single nucleotide variant NM_014363.5(SACS):c.1219C>A (p.Leu407Ile) 201569239 MedGen:C1849140,OMIM:270550,Orphanet:ORPHA98 13 23929532 23929532 G T 335721 single nucleotide variant NM_014363.5(SACS):c.1219C>A (p.Leu407Ile) 201569239 MedGen:C1849140,OMIM:270550,Orphanet:ORPHA98 13 23355393 23355393 G T 335722 single nucleotide variant NM_014363.5(SACS):c.954A>G (p.Leu318=) 147412202 MedGen:C1849140,OMIM:270550,Orphanet:ORPHA98 13 23355658 23355658 T C 335722 single nucleotide variant NM_014363.5(SACS):c.954A>G (p.Leu318=) 147412202 MedGen:C1849140,OMIM:270550,Orphanet:ORPHA98 13 23929797 23929797 T C 335727 single nucleotide variant NM_014363.5(SACS):c.345+14C>T 538944334 MedGen:C1849140,OMIM:270550,Orphanet:ORPHA98 13 23368388 23368388 G A 335727 single nucleotide variant NM_014363.5(SACS):c.345+14C>T 538944334 MedGen:C1849140,OMIM:270550,Orphanet:ORPHA98 13 23942527 23942527 G A 335728 single nucleotide variant NM_014363.5(SACS):c.99T>C (p.Asp33=) 775206528 MedGen:C1849140,OMIM:270550,Orphanet:ORPHA98 13 23375191 23375191 A G 335728 single nucleotide variant NM_014363.5(SACS):c.99T>C (p.Asp33=) 775206528 MedGen:C1849140,OMIM:270550,Orphanet:ORPHA98 13 23949330 23949330 A G 335732 single nucleotide variant NM_014363.5(SACS):c.-70G>A 575970347 MedGen:C1849140,OMIM:270550,Orphanet:ORPHA98 13 23411309 23411309 C T 335732 single nucleotide variant NM_014363.5(SACS):c.-70G>A 575970347 MedGen:C1849140,OMIM:270550,Orphanet:ORPHA98 13 23985448 23985448 C T 358161 duplication NM_014363.5(SACS):c.8612dupT (p.Leu2871Phefs) 1057517212 MedGen:C1849140,OMIM:270550,Orphanet:ORPHA98 13 23909403 23909403 A AA 358136 duplication NM_014363.5(SACS):c.13283dupA (p.Tyr4428Terfs) 1057517123 MedGen:C1849140,OMIM:270550,Orphanet:ORPHA98 13 23904732 23904732 T TT 358136 duplication NM_014363.5(SACS):c.13283dupA (p.Tyr4428Terfs) 1057517123 MedGen:C1849140,OMIM:270550,Orphanet:ORPHA98 13 23330593 23330593 T TT 358137 single nucleotide variant NM_014363.5(SACS):c.13132C>T (p.Arg4378Ter) 747868017 MedGen:C1849140,OMIM:270550,Orphanet:ORPHA98 13 23904883 23904883 G A 358137 single nucleotide variant NM_014363.5(SACS):c.13132C>T (p.Arg4378Ter) 747868017 MedGen:C1849140,OMIM:270550,Orphanet:ORPHA98 13 23330744 23330744 G A 358138 deletion NM_014363.5(SACS):c.12923_12927delAAGAA (p.Lys4308Serfs) 1057517294 MedGen:C1849140,OMIM:270550,Orphanet:ORPHA98 13 23905088 23905092 TTCTT - 358138 deletion NM_014363.5(SACS):c.12923_12927delAAGAA (p.Lys4308Serfs) 1057517294 MedGen:C1849140,OMIM:270550,Orphanet:ORPHA98 13 23330949 23330953 TTCTT - 358139 deletion NM_014363.5(SACS):c.12540delA (p.Glu4180Aspfs) 1057516347 MedGen:C1849140,OMIM:270550,Orphanet:ORPHA98 13 23331336 23331336 T - 358139 deletion NM_014363.5(SACS):c.12540delA (p.Glu4180Aspfs) 1057516347 MedGen:C1849140,OMIM:270550,Orphanet:ORPHA98 13 23905475 23905475 T - 358140 deletion NM_014363.5(SACS):c.11731delA (p.Ser3911Alafs) 1057517232 MedGen:C1849140,OMIM:270550,Orphanet:ORPHA98 13 23906284 23906284 T - 358140 deletion NM_014363.5(SACS):c.11731delA (p.Ser3911Alafs) 1057517232 MedGen:C1849140,OMIM:270550,Orphanet:ORPHA98 13 23332145 23332145 T - 358141 single nucleotide variant NM_014363.5(SACS):c.11374C>T (p.Arg3792Ter) 565203731 MedGen:C1849140,OMIM:270550,Orphanet:ORPHA98 13 23332502 23332502 G A 358141 single nucleotide variant NM_014363.5(SACS):c.11374C>T (p.Arg3792Ter) 565203731 MedGen:C1849140,OMIM:270550,Orphanet:ORPHA98 13 23906641 23906641 G A 358142 deletion NM_014363.5(SACS):c.11247_11250delCAAT (p.Asn3750Thrfs) 753205260 MedGen:C1849140,OMIM:270550,Orphanet:ORPHA98 13 23906765 23906768 ATTG - 358142 deletion NM_014363.5(SACS):c.11247_11250delCAAT (p.Asn3750Thrfs) 753205260 MedGen:C1849140,OMIM:270550,Orphanet:ORPHA98 13 23332626 23332629 ATTG - 358143 single nucleotide variant NM_014363.5(SACS):c.11185C>T (p.Gln3729Ter) 1057516398 MedGen:C1849140,OMIM:270550,Orphanet:ORPHA98 13 23906830 23906830 G A 358143 single nucleotide variant NM_014363.5(SACS):c.11185C>T (p.Gln3729Ter) 1057516398 MedGen:C1849140,OMIM:270550,Orphanet:ORPHA98 13 23332691 23332691 G A 358144 duplication NM_014363.5(SACS):c.11081dupG (p.Cys3694Trpfs) 1057516856 MedGen:C1849140,OMIM:270550,Orphanet:ORPHA98 13 23906934 23906934 C CC 358144 duplication NM_014363.5(SACS):c.11081dupG (p.Cys3694Trpfs) 1057516856 MedGen:C1849140,OMIM:270550,Orphanet:ORPHA98 13 23332795 23332795 C CC 358145 duplication NM_014363.5(SACS):c.11042dupA (p.Phe3682Valfs) 756597098 MedGen:C1849140,OMIM:270550,Orphanet:ORPHA98 13 23906973 23906973 T TT 358145 duplication NM_014363.5(SACS):c.11042dupA (p.Phe3682Valfs) 756597098 MedGen:C1849140,OMIM:270550,Orphanet:ORPHA98 13 23332834 23332834 T TT 358146 single nucleotide variant NM_014363.5(SACS):c.10864C>T (p.Gln3622Ter) 1057516578 MedGen:C1849140,OMIM:270550,Orphanet:ORPHA98 13 23907151 23907151 G A 358146 single nucleotide variant NM_014363.5(SACS):c.10864C>T (p.Gln3622Ter) 1057516578 MedGen:C1849140,OMIM:270550,Orphanet:ORPHA98 13 23333012 23333012 G A 358147 deletion NM_014363.5(SACS):c.10854delA (p.Glu3619Lysfs) 1057516773 MedGen:C1849140,OMIM:270550,Orphanet:ORPHA98 13 23907161 23907161 T - 358147 deletion NM_014363.5(SACS):c.10854delA (p.Glu3619Lysfs) 1057516773 MedGen:C1849140,OMIM:270550,Orphanet:ORPHA98 13 23333022 23333022 T - 358148 single nucleotide variant NM_014363.5(SACS):c.10804C>T (p.Gln3602Ter) 1057517002 MedGen:C1849140,OMIM:270550,Orphanet:ORPHA98 13 23907211 23907211 G A 358148 single nucleotide variant NM_014363.5(SACS):c.10804C>T (p.Gln3602Ter) 1057517002 MedGen:C1849140,OMIM:270550,Orphanet:ORPHA98 13 23333072 23333072 G A 358149 deletion NM_014363.5(SACS):c.10686_10689delCTTT (p.Phe3562Leufs) 779338945 MedGen:C1849140,OMIM:270550,Orphanet:ORPHA98 13 23907326 23907329 AAAG - 358149 deletion NM_014363.5(SACS):c.10686_10689delCTTT (p.Phe3562Leufs) 779338945 MedGen:C1849140,OMIM:270550,Orphanet:ORPHA98 13 23333187 23333190 AAAG - 358150 single nucleotide variant NM_014363.5(SACS):c.10497C>A (p.Tyr3499Ter) 755186798 MedGen:C1849140,OMIM:270550,Orphanet:ORPHA98 13 23333379 23333379 G T 358150 single nucleotide variant NM_014363.5(SACS):c.10497C>A (p.Tyr3499Ter) 755186798 MedGen:C1849140,OMIM:270550,Orphanet:ORPHA98 13 23907518 23907518 G T 358151 single nucleotide variant NM_014363.5(SACS):c.10136T>G (p.Leu3379Ter) 1057517250 MedGen:C1849140,OMIM:270550,Orphanet:ORPHA98 13 23333740 23333740 A C 358151 single nucleotide variant NM_014363.5(SACS):c.10136T>G (p.Leu3379Ter) 1057517250 MedGen:C1849140,OMIM:270550,Orphanet:ORPHA98 13 23907879 23907879 A C 358152 deletion NM_014363.5(SACS):c.10090delG (p.Ala3364Leufs) 1057517383 MedGen:C1849140,OMIM:270550,Orphanet:ORPHA98 13 23907925 23907925 C - 358152 deletion NM_014363.5(SACS):c.10090delG (p.Ala3364Leufs) 1057517383 MedGen:C1849140,OMIM:270550,Orphanet:ORPHA98 13 23333786 23333786 C - 358153 deletion NM_014363.5(SACS):c.9818_9831delATACTCTAAAAGAC (p.Asp3273Valfs) 1057516464 MedGen:C1849140,OMIM:270550,Orphanet:ORPHA98 13 23908184 23908197 GTCTTTTAGAGTAT - 358153 deletion NM_014363.5(SACS):c.9818_9831delATACTCTAAAAGAC (p.Asp3273Valfs) 1057516464 MedGen:C1849140,OMIM:270550,Orphanet:ORPHA98 13 23334045 23334058 GTCTTTTAGAGTAT - 358154 deletion NM_014363.5(SACS):c.9390_9391delTA (p.His3130Glnfs) 1057517349 MedGen:C1849140,OMIM:270550,Orphanet:ORPHA98 13 23908624 23908625 TA - 358154 deletion NM_014363.5(SACS):c.9390_9391delTA (p.His3130Glnfs) 1057517349 MedGen:C1849140,OMIM:270550,Orphanet:ORPHA98 13 23334485 23334486 TA - 358155 duplication NM_014363.5(SACS):c.9377dupT (p.Leu3128Thrfs) 1057516875 MedGen:C1849140,OMIM:270550,Orphanet:ORPHA98 13 23908638 23908638 A AA 358155 duplication NM_014363.5(SACS):c.9377dupT (p.Leu3128Thrfs) 1057516875 MedGen:C1849140,OMIM:270550,Orphanet:ORPHA98 13 23334499 23334499 A AA 358156 duplication NM_014363.5(SACS):c.9088_9089dupTT (p.Leu3030Phefs) 1057517060 MedGen:C1849140,OMIM:270550,Orphanet:ORPHA98 13 23908926 23908927 AA AAAA 358156 duplication NM_014363.5(SACS):c.9088_9089dupTT (p.Leu3030Phefs) 1057517060 MedGen:C1849140,OMIM:270550,Orphanet:ORPHA98 13 23334787 23334788 AA AAAA 358157 deletion NM_014363.5(SACS):c.8873delA (p.Lys2958Serfs) 765992922 MedGen:C1849140,OMIM:270550,Orphanet:ORPHA98 13 23335003 23335003 T - 358157 deletion NM_014363.5(SACS):c.8873delA (p.Lys2958Serfs) 765992922 MedGen:C1849140,OMIM:270550,Orphanet:ORPHA98 13 23909142 23909142 T - 358158 single nucleotide variant NM_014363.5(SACS):c.8867T>A (p.Leu2956Ter) 1057516853 MedGen:C1849140,OMIM:270550,Orphanet:ORPHA98 13 23909148 23909148 A T 358158 single nucleotide variant NM_014363.5(SACS):c.8867T>A (p.Leu2956Ter) 1057516853 MedGen:C1849140,OMIM:270550,Orphanet:ORPHA98 13 23335009 23335009 A T 358159 deletion NM_014363.5(SACS):c.8733_8734delCA (p.Asn2911Lysfs) 1057517020 MedGen:C1849140,OMIM:270550,Orphanet:ORPHA98 13 23909281 23909282 TG - 358159 deletion NM_014363.5(SACS):c.8733_8734delCA (p.Asn2911Lysfs) 1057517020 MedGen:C1849140,OMIM:270550,Orphanet:ORPHA98 13 23335142 23335143 TG - 358160 deletion NM_014363.5(SACS):c.8621_8624delCTTT (p.Ser2874Trpfs) 753012964 MedGen:C1849140,OMIM:270550,Orphanet:ORPHA98 13 23335252 23335255 AAAG - 358160 deletion NM_014363.5(SACS):c.8621_8624delCTTT (p.Ser2874Trpfs) 753012964 MedGen:C1849140,OMIM:270550,Orphanet:ORPHA98 13 23909391 23909394 AAAG - 358161 duplication NM_014363.5(SACS):c.8612dupT (p.Leu2871Phefs) 1057517212 MedGen:C1849140,OMIM:270550,Orphanet:ORPHA98 13 23335264 23335264 A AA 358162 single nucleotide variant NM_014363.5(SACS):c.7861C>T (p.Gln2621Ter) 1057517014 MedGen:C1849140,OMIM:270550,Orphanet:ORPHA98 13 23910154 23910154 G A 358162 single nucleotide variant NM_014363.5(SACS):c.7861C>T (p.Gln2621Ter) 1057517014 MedGen:C1849140,OMIM:270550,Orphanet:ORPHA98 13 23336015 23336015 G A 358163 deletion NM_014363.5(SACS):c.7844delA (p.Asn2615Ilefs) 758572409 MedGen:C1849140,OMIM:270550,Orphanet:ORPHA98 13 23910171 23910171 T - 358163 deletion NM_014363.5(SACS):c.7844delA (p.Asn2615Ilefs) 758572409 MedGen:C1849140,OMIM:270550,Orphanet:ORPHA98 13 23336032 23336032 T - 358164 deletion NM_014363.5(SACS):c.7788delT (p.Phe2596Leufs) 1057516959 MedGen:C1849140,OMIM:270550,Orphanet:ORPHA98 13 23910227 23910227 A - 358164 deletion NM_014363.5(SACS):c.7788delT (p.Phe2596Leufs) 1057516959 MedGen:C1849140,OMIM:270550,Orphanet:ORPHA98 13 23336088 23336088 A - 358165 deletion NM_014363.5(SACS):c.7521_7524delAAGA (p.Glu2507Aspfs) 1057516438 MedGen:C1849140,OMIM:270550,Orphanet:ORPHA98 13 23336352 23336355 TCTT - 358165 deletion NM_014363.5(SACS):c.7521_7524delAAGA (p.Glu2507Aspfs) 1057516438 MedGen:C1849140,OMIM:270550,Orphanet:ORPHA98 13 23910491 23910494 TCTT - 358166 deletion NM_014363.5(SACS):c.7494_7504delAGTCCCAAAGC (p.Val2499Thrfs) 1057517451 MedGen:C1849140,OMIM:270550,Orphanet:ORPHA98 13 23336372 23336382 GCTTTGGGACT - 358166 deletion NM_014363.5(SACS):c.7494_7504delAGTCCCAAAGC (p.Val2499Thrfs) 1057517451 MedGen:C1849140,OMIM:270550,Orphanet:ORPHA98 13 23910511 23910521 GCTTTGGGACT - 358167 single nucleotide variant NM_014363.5(SACS):c.7394C>A (p.Ser2465Ter) 747676277 MedGen:C1849140,OMIM:270550,Orphanet:ORPHA98 13 23910621 23910621 G T 358167 single nucleotide variant NM_014363.5(SACS):c.7394C>A (p.Ser2465Ter) 747676277 MedGen:C1849140,OMIM:270550,Orphanet:ORPHA98 13 23336482 23336482 G T 358168 single nucleotide variant NM_014363.5(SACS):c.7273C>T (p.Arg2425Ter) 145766983 MedGen:C1849140,OMIM:270550,Orphanet:ORPHA98 13 23910742 23910742 G A 358168 single nucleotide variant NM_014363.5(SACS):c.7273C>T (p.Arg2425Ter) 145766983 MedGen:C1849140,OMIM:270550,Orphanet:ORPHA98 13 23336603 23336603 G A 358169 deletion NM_014363.5(SACS):c.7139delA (p.Asn2380Ilefs) 1057516689 MedGen:C1849140,OMIM:270550,Orphanet:ORPHA98 13 23336737 23336737 T - 358169 deletion NM_014363.5(SACS):c.7139delA (p.Asn2380Ilefs) 1057516689 MedGen:C1849140,OMIM:270550,Orphanet:ORPHA98 13 23910876 23910876 T - 358170 duplication NM_014363.5(SACS):c.7114dupT (p.Tyr2372Leufs) 1057517222 MedGen:C1849140,OMIM:270550,Orphanet:ORPHA98 13 23910901 23910901 A AA 358170 duplication NM_014363.5(SACS):c.7114dupT (p.Tyr2372Leufs) 1057517222 MedGen:C1849140,OMIM:270550,Orphanet:ORPHA98 13 23336762 23336762 A AA 358171 deletion NM_014363.5(SACS):c.6804delT (p.Phe2268Leufs) 1057517301 MedGen:C1849140,OMIM:270550,Orphanet:ORPHA98 13 23911211 23911211 A - 358171 deletion NM_014363.5(SACS):c.6804delT (p.Phe2268Leufs) 1057517301 MedGen:C1849140,OMIM:270550,Orphanet:ORPHA98 13 23337072 23337072 A - 358172 duplication NM_014363.5(SACS):c.6757dupA (p.Ile2253Asnfs) 1057516932 MedGen:C1849140,OMIM:270550,Orphanet:ORPHA98 13 23337119 23337119 T TT 358172 duplication NM_014363.5(SACS):c.6757dupA (p.Ile2253Asnfs) 1057516932 MedGen:C1849140,OMIM:270550,Orphanet:ORPHA98 13 23911258 23911258 T TT 358173 deletion NM_014363.5(SACS):c.6448_6452delCAGTT (p.Gln2150Argfs) 1057516635 MedGen:C1849140,OMIM:270550,Orphanet:ORPHA98 13 23337424 23337428 AACTG - 358173 deletion NM_014363.5(SACS):c.6448_6452delCAGTT (p.Gln2150Argfs) 1057516635 MedGen:C1849140,OMIM:270550,Orphanet:ORPHA98 13 23911563 23911567 AACTG - 358174 deletion NM_014363.5(SACS):c.6320delT (p.Leu2107Trpfs) 1057516295 MedGen:C1849140,OMIM:270550,Orphanet:ORPHA98 13 23337556 23337556 A - 358174 deletion NM_014363.5(SACS):c.6320delT (p.Leu2107Trpfs) 1057516295 MedGen:C1849140,OMIM:270550,Orphanet:ORPHA98 13 23911695 23911695 A - 358175 deletion NM_014363.5(SACS):c.6221delA (p.Asp2074Valfs) 1057517366 MedGen:C1849140,OMIM:270550,Orphanet:ORPHA98 13 23911794 23911794 T - 358175 deletion NM_014363.5(SACS):c.6221delA (p.Asp2074Valfs) 1057517366 MedGen:C1849140,OMIM:270550,Orphanet:ORPHA98 13 23337655 23337655 T - 358176 duplication NM_014363.5(SACS):c.5784dupA (p.Arg1929Thrfs) 1057517099 MedGen:C1849140,OMIM:270550,Orphanet:ORPHA98 13 23338092 23338092 T TT 358176 duplication NM_014363.5(SACS):c.5784dupA (p.Arg1929Thrfs) 1057517099 MedGen:C1849140,OMIM:270550,Orphanet:ORPHA98 13 23912231 23912231 T TT 358177 deletion NM_014363.5(SACS):c.5764_5767delTTAC (p.Leu1922Argfs) 759166250 MedGen:C1849140,OMIM:270550,Orphanet:ORPHA98 13 23912248 23912251 GTAA - 358177 deletion NM_014363.5(SACS):c.5764_5767delTTAC (p.Leu1922Argfs) 759166250 MedGen:C1849140,OMIM:270550,Orphanet:ORPHA98 13 23338109 23338112 GTAA - 358178 deletion NM_014363.5(SACS):c.5744_5745delAT (p.His1915Argfs) 1057517138 MedGen:C1849140,OMIM:270550,Orphanet:ORPHA98 13 23912270 23912271 AT - 358178 deletion NM_014363.5(SACS):c.5744_5745delAT (p.His1915Argfs) 1057517138 MedGen:C1849140,OMIM:270550,Orphanet:ORPHA98 13 23338131 23338132 AT - 358179 single nucleotide variant NM_014363.5(SACS):c.5629C>T (p.Arg1877Ter) 761089024 MedGen:C1849140,OMIM:270550,Orphanet:ORPHA98 13 23912386 23912386 G A 358179 single nucleotide variant NM_014363.5(SACS):c.5629C>T (p.Arg1877Ter) 761089024 MedGen:C1849140,OMIM:270550,Orphanet:ORPHA98 13 23338247 23338247 G A 358180 single nucleotide variant NM_014363.5(SACS):c.5469C>A (p.Cys1823Ter) 1057517172 MedGen:C1849140,OMIM:270550,Orphanet:ORPHA98 13 23912546 23912546 G T 358180 single nucleotide variant NM_014363.5(SACS):c.5469C>A (p.Cys1823Ter) 1057517172 MedGen:C1849140,OMIM:270550,Orphanet:ORPHA98 13 23338407 23338407 G T 358181 deletion NM_014363.5(SACS):c.5379delT (p.Phe1793Leufs) 1057517297 MedGen:C1849140,OMIM:270550,Orphanet:ORPHA98 13 23912636 23912636 A - 358181 deletion NM_014363.5(SACS):c.5379delT (p.Phe1793Leufs) 1057517297 MedGen:C1849140,OMIM:270550,Orphanet:ORPHA98 13 23338497 23338497 A - 358182 single nucleotide variant NM_014363.5(SACS):c.5125C>T (p.Gln1709Ter) 1057517311 MedGen:C1849140,OMIM:270550,Orphanet:ORPHA98 13 23912890 23912890 G A 358182 single nucleotide variant NM_014363.5(SACS):c.5125C>T (p.Gln1709Ter) 1057517311 MedGen:C1849140,OMIM:270550,Orphanet:ORPHA98 13 23338751 23338751 G A 358183 duplication NM_014363.5(SACS):c.5073_5074dupGT (p.Ser1692Cysfs) 1057517305 MedGen:C1849140,OMIM:270550,Orphanet:ORPHA98 13 23912941 23912942 AC ACAC 358183 duplication NM_014363.5(SACS):c.5073_5074dupGT (p.Ser1692Cysfs) 1057517305 MedGen:C1849140,OMIM:270550,Orphanet:ORPHA98 13 23338802 23338803 AC ACAC 358184 deletion NM_014363.5(SACS):c.4894_4897delACTG (p.Thr1632Terfs) 1057516580 MedGen:C1849140,OMIM:270550,Orphanet:ORPHA98 13 23913118 23913121 CAGT - 358184 deletion NM_014363.5(SACS):c.4894_4897delACTG (p.Thr1632Terfs) 1057516580 MedGen:C1849140,OMIM:270550,Orphanet:ORPHA98 13 23338979 23338982 CAGT - 358185 deletion NM_014363.5(SACS):c.4760delA (p.His1587Leufs) 1057516285 MedGen:C1849140,OMIM:270550,Orphanet:ORPHA98 13 23913255 23913255 T - 358185 deletion NM_014363.5(SACS):c.4760delA (p.His1587Leufs) 1057516285 MedGen:C1849140,OMIM:270550,Orphanet:ORPHA98 13 23339116 23339116 T - 358186 duplication NM_014363.5(SACS):c.4593dupA (p.Asp1532Argfs) 780197970 MedGen:C1849140,OMIM:270550,Orphanet:ORPHA98 13 23339283 23339283 T TT 358186 duplication NM_014363.5(SACS):c.4593dupA (p.Asp1532Argfs) 780197970 MedGen:C1849140,OMIM:270550,Orphanet:ORPHA98 13 23913422 23913422 T TT 358187 deletion NM_014363.5(SACS):c.4465_4471delAATGCAA (p.Asn1489Glnfs) 1057516294 MedGen:C1849140,OMIM:270550,Orphanet:ORPHA98 13 23913544 23913550 TTGCATT - 358187 deletion NM_014363.5(SACS):c.4465_4471delAATGCAA (p.Asn1489Glnfs) 1057516294 MedGen:C1849140,OMIM:270550,Orphanet:ORPHA98 13 23339405 23339411 TTGCATT - 358188 single nucleotide variant NM_014363.5(SACS):c.4298G>A (p.Trp1433Ter) 1057516930 MedGen:C1849140,OMIM:270550,Orphanet:ORPHA98 13 23339578 23339578 C T 358188 single nucleotide variant NM_014363.5(SACS):c.4298G>A (p.Trp1433Ter) 1057516930 MedGen:C1849140,OMIM:270550,Orphanet:ORPHA98 13 23913717 23913717 C T 358189 single nucleotide variant NM_014363.5(SACS):c.4095G>A (p.Trp1365Ter) 1057516779 MedGen:C1849140,OMIM:270550,Orphanet:ORPHA98 13 23339781 23339781 C T 358189 single nucleotide variant NM_014363.5(SACS):c.4095G>A (p.Trp1365Ter) 1057516779 MedGen:C1849140,OMIM:270550,Orphanet:ORPHA98 13 23913920 23913920 C T 358190 deletion NM_014363.5(SACS):c.4039delC (p.Leu1347Serfs) 1057516222 MedGen:C1849140,OMIM:270550,Orphanet:ORPHA98 13 23339837 23339837 G - 358190 deletion NM_014363.5(SACS):c.4039delC (p.Leu1347Serfs) 1057516222 MedGen:C1849140,OMIM:270550,Orphanet:ORPHA98 13 23913976 23913976 G - 358191 deletion NM_014363.5(SACS):c.3356delC (p.Pro1119Leufs) 1057517039 MedGen:C1849140,OMIM:270550,Orphanet:ORPHA98 13 23914659 23914659 G - 358191 deletion NM_014363.5(SACS):c.3356delC (p.Pro1119Leufs) 1057517039 MedGen:C1849140,OMIM:270550,Orphanet:ORPHA98 13 23340520 23340520 G - 358192 deletion NM_014363.5(SACS):c.3195_3196delTT (p.Phe1065Leufs) 1057516551 MedGen:C1849140,OMIM:270550,Orphanet:ORPHA98 13 23914819 23914820 AA - 358192 deletion NM_014363.5(SACS):c.3195_3196delTT (p.Phe1065Leufs) 1057516551 MedGen:C1849140,OMIM:270550,Orphanet:ORPHA98 13 23340680 23340681 AA - 358193 deletion NM_014363.5(SACS):c.3066delT (p.Asn1025Metfs) 1057516767 MedGen:C1849140,OMIM:270550,Orphanet:ORPHA98 13 23914949 23914949 A - 358193 deletion NM_014363.5(SACS):c.3066delT (p.Asn1025Metfs) 1057516767 MedGen:C1849140,OMIM:270550,Orphanet:ORPHA98 13 23340810 23340810 A - 358194 single nucleotide variant NM_014363.5(SACS):c.2957T>A (p.Leu986Ter) 766457071 MedGen:C1849140,OMIM:270550,Orphanet:ORPHA98 13 23340919 23340919 A T 358194 single nucleotide variant NM_014363.5(SACS):c.2957T>A (p.Leu986Ter) 766457071 MedGen:C1849140,OMIM:270550,Orphanet:ORPHA98 13 23915058 23915058 A T 358195 duplication NM_014363.5(SACS):c.2913_2914dupTG (p.Glu972Valfs) 1057517034 MedGen:C1849140,OMIM:270550,Orphanet:ORPHA98 13 23915101 23915102 CA CACA 358195 duplication NM_014363.5(SACS):c.2913_2914dupTG (p.Glu972Valfs) 1057517034 MedGen:C1849140,OMIM:270550,Orphanet:ORPHA98 13 23340962 23340963 CA CACA 358196 deletion NM_014363.5(SACS):c.2870delC (p.Pro957Glnfs) 1057516624 MedGen:C1849140,OMIM:270550,Orphanet:ORPHA98 13 23915145 23915145 G - 358196 deletion NM_014363.5(SACS):c.2870delC (p.Pro957Glnfs) 1057516624 MedGen:C1849140,OMIM:270550,Orphanet:ORPHA98 13 23341006 23341006 G - 358197 duplication NM_014363.5(SACS):c.2629_2630dupTT (p.Leu877Phefs) 1057516829 MedGen:C1849140,OMIM:270550,Orphanet:ORPHA98 13 23915385 23915386 AA AAAA 358197 duplication NM_014363.5(SACS):c.2629_2630dupTT (p.Leu877Phefs) 1057516829 MedGen:C1849140,OMIM:270550,Orphanet:ORPHA98 13 23341246 23341247 AA AAAA 358198 single nucleotide variant NM_014363.5(SACS):c.2330C>A (p.Ser777Ter) 1057517437 MedGen:C1849140,OMIM:270550,Orphanet:ORPHA98 13 23341546 23341546 G T 358198 single nucleotide variant NM_014363.5(SACS):c.2330C>A (p.Ser777Ter) 1057517437 MedGen:C1849140,OMIM:270550,Orphanet:ORPHA98 13 23915685 23915685 G T 358199 single nucleotide variant NM_014363.5(SACS):c.2224C>T (p.Arg742Ter) 1057517285 MedGen:C1849140,OMIM:270550,Orphanet:ORPHA98 13 23341652 23341652 G A 358199 single nucleotide variant NM_014363.5(SACS):c.2224C>T (p.Arg742Ter) 1057517285 MedGen:C1849140,OMIM:270550,Orphanet:ORPHA98 13 23915791 23915791 G A 358200 single nucleotide variant NM_014363.5(SACS):c.2186-2A>G 1057516554 MedGen:C1849140,OMIM:270550,Orphanet:ORPHA98 13 23915831 23915831 T C 358200 single nucleotide variant NM_014363.5(SACS):c.2186-2A>G 1057516554 MedGen:C1849140,OMIM:270550,Orphanet:ORPHA98 13 23341692 23341692 T C 358201 deletion NM_014363.5(SACS):c.2076delC (p.Ser693Glnfs) 1057516224 MedGen:C1849140,OMIM:270550,Orphanet:ORPHA98 13 23928675 23928675 G - 358201 deletion NM_014363.5(SACS):c.2076delC (p.Ser693Glnfs) 1057516224 MedGen:C1849140,OMIM:270550,Orphanet:ORPHA98 13 23354536 23354536 G - 358202 deletion NM_014363.5(SACS):c.1681delG (p.Val561Terfs) 1057516543 MedGen:C1849140,OMIM:270550,Orphanet:ORPHA98 13 23354931 23354931 C - 358202 deletion NM_014363.5(SACS):c.1681delG (p.Val561Terfs) 1057516543 MedGen:C1849140,OMIM:270550,Orphanet:ORPHA98 13 23929070 23929070 C - 358203 duplication NM_014363.5(SACS):c.1276_1277dupTT (p.Leu426Phefs) 1057516406 MedGen:C1849140,OMIM:270550,Orphanet:ORPHA98 13 23929474 23929475 AA AAAA 358203 duplication NM_014363.5(SACS):c.1276_1277dupTT (p.Leu426Phefs) 1057516406 MedGen:C1849140,OMIM:270550,Orphanet:ORPHA98 13 23355335 23355336 AA AAAA 358204 deletion NM_014363.5(SACS):c.1228_1229delTT (p.Leu410Serfs) 1057516365 MedGen:C1849140,OMIM:270550,Orphanet:ORPHA98 13 23929522 23929523 AA - 358204 deletion NM_014363.5(SACS):c.1228_1229delTT (p.Leu410Serfs) 1057516365 MedGen:C1849140,OMIM:270550,Orphanet:ORPHA98 13 23355383 23355384 AA - 358205 deletion NM_014363.5(SACS):c.1189_1190delAG (p.Ser397Cysfs) 1057516625 MedGen:C1849140,OMIM:270550,Orphanet:ORPHA98 13 23929561 23929562 CT - 358205 deletion NM_014363.5(SACS):c.1189_1190delAG (p.Ser397Cysfs) 1057516625 MedGen:C1849140,OMIM:270550,Orphanet:ORPHA98 13 23355422 23355423 CT - 358206 duplication NM_014363.5(SACS):c.1137dupA (p.Glu380Argfs) 1057516987 MedGen:C1849140,OMIM:270550,Orphanet:ORPHA98 13 23929614 23929614 T TT 358206 duplication NM_014363.5(SACS):c.1137dupA (p.Glu380Argfs) 1057516987 MedGen:C1849140,OMIM:270550,Orphanet:ORPHA98 13 23355475 23355475 T TT 358207 deletion NM_014363.5(SACS):c.1085delA (p.Lys362Argfs) 1057517242 MedGen:C1849140,OMIM:270550,Orphanet:ORPHA98 13 23355527 23355527 T - 358207 deletion NM_014363.5(SACS):c.1085delA (p.Lys362Argfs) 1057517242 MedGen:C1849140,OMIM:270550,Orphanet:ORPHA98 13 23929666 23929666 T - 358208 insertion NM_014363.5(SACS):c.468_469insG (p.Tyr157Valfs) 1057516820 MedGen:C1849140,OMIM:270550,Orphanet:ORPHA98 13 23358470 23358471 - C 358208 insertion NM_014363.5(SACS):c.468_469insG (p.Tyr157Valfs) 1057516820 MedGen:C1849140,OMIM:270550,Orphanet:ORPHA98 13 23932609 23932610 - C 358209 deletion NM_014363.5(SACS):c.29delC (p.Pro10Argfs) 1057516837 MedGen:C1849140,OMIM:270550,Orphanet:ORPHA98 13 23949400 23949400 G - 358209 deletion NM_014363.5(SACS):c.29delC (p.Pro10Argfs) 1057516837 MedGen:C1849140,OMIM:270550,Orphanet:ORPHA98 13 23375261 23375261 G - 358210 single nucleotide variant NM_014363.5(SACS):c.1A>G (p.Met1Val) 771943685 MedGen:C1849140,OMIM:270550,Orphanet:ORPHA98 13 23411239 23411239 T C 358210 single nucleotide variant NM_014363.5(SACS):c.1A>G (p.Met1Val) 771943685 MedGen:C1849140,OMIM:270550,Orphanet:ORPHA98 13 23985378 23985378 T C 359998 single nucleotide variant NM_014363.5(SACS):c.13538G>A (p.Ser4513Asn) 138328181 MedGen:CN169374 13 23904477 23904477 C T 359998 single nucleotide variant NM_014363.5(SACS):c.13538G>A (p.Ser4513Asn) 138328181 MedGen:CN169374 13 23330338 23330338 C T 360126 single nucleotide variant NM_014363.5(SACS):c.11884A>T (p.Ile3962Leu) 746953932 MedGen:CN169374 13 23331992 23331992 T A 360126 single nucleotide variant NM_014363.5(SACS):c.11884A>T (p.Ile3962Leu) 746953932 MedGen:CN169374 13 23906131 23906131 T A

Disease associated variation - GWASdb Chr Pos SNP ID(dbSNP 142) Ref Alt Ori SNP ID P-value Drug Name Drug Anno GWAS Trait HPO ID DO ID AA Type Trait or Drug 13 23968485 rs9510717 T C rs9510717 4.52E-05 TOPIRAMATE|FRUCTOSE ANTICONVULSANTS Cognitive impairment induced by topiramate HPOID:0100543 DOID:1561 C intron GWASdb_drug 13 23903791 rs4770433 A G rs4770433 4.00E-06 Protein quantitative trait loci HPOID:0000118 NA A UTR-3 GWASdb_trait 13 23922462 rs41360252 A G rs41360252 7.60E-05 Cognitive function HPOID:0100543 DOID:1561 T intron GWASdb_trait 13 23957514 rs17078678 C A rs17078678 1.01E-04 Alcohol dependence HPOID:0000707 DOID:0050741 C intron GWASdb_trait 13 23963253 rs17078682 A C rs17078682 1.48E-04 Suicide attempts in bipolar disorder HPOID:0007302 DOID:3312 A intron GWASdb_trait 13 23963439 rs17078687 T A rs17078687 1.67E-04 Suicide attempts in bipolar disorder HPOID:0007302 DOID:3312 T intron GWASdb_trait 13 23963714 rs17078690 A T rs17078690 1.71E-04 Suicide attempts in bipolar disorder HPOID:0007302 DOID:3312 T intron GWASdb_trait 13 23964095 rs7339176 G A rs7339176 7.01E-06 Depression (quantitative trait) HPOID:0000716 DOID:1596 A intron GWASdb_trait 13 23966145 rs1008812 A G rs1008812 5.80E-06 Depression (quantitative trait) HPOID:0000716 DOID:1596 G intron GWASdb_trait 13 23966252 rs1008813 G A rs1008813 5.77E-06 Depression (quantitative trait) HPOID:0000716 DOID:1596 G intron GWASdb_trait 13 23966395 rs1008814 T A rs1008814 6.16E-06 Depression (quantitative trait) HPOID:0000716 DOID:1596 A intron GWASdb_trait 13 23967078 rs8000066 C T rs8000066 6.60E-06 Depression (quantitative trait) HPOID:0000716 DOID:1596 C intron GWASdb_trait 13 23967690 rs8001909 A G rs8001909 7.90E-05 Suicide attempts in bipolar disorder HPOID:0007302 DOID:3312 G intron GWASdb_trait 13 23968485 rs9510717 T C rs9510717 4.52E-05 Cognitive impairment induced by topiramate HPOID:0100543 DOID:1561 C intron GWASdb_trait 13 23969866 rs7990558 G C rs7990558 2.03E-04 Suicide attempts in bipolar disorder HPOID:0007302 DOID:3312 C intron GWASdb_trait 13 23970631 rs9634390 A G rs9634390 2.81E-04 Suicide attempts in bipolar disorder HPOID:0007302 DOID:3312 NA intron GWASdb_trait 13 23970639 rs9634391 T C rs9634391 2.35E-04 Suicide attempts in bipolar disorder HPOID:0007302 DOID:3312 NA intron GWASdb_trait 13 23970653 rs9634392 G T rs9634392 2.37E-04 Suicide attempts in bipolar disorder HPOID:0007302 DOID:3312 NA intron GWASdb_trait 13 23970817 rs9552943 A G rs9552943 2.37E-04 Suicide attempts in bipolar disorder HPOID:0007302 DOID:3312 NA intron GWASdb_trait 13 23970859 rs9552944 A C rs9552944 1.84E-04 Suicide attempts in bipolar disorder HPOID:0007302 DOID:3312 NA intron GWASdb_trait 13 23970877 rs11618590 T C rs11618590 7.81E-05 Depression (quantitative trait) HPOID:0000716 DOID:1596 NA intron GWASdb_trait 13 23971188 rs9552946 A T rs9552946 1.90E-04 Suicide attempts in bipolar disorder HPOID:0007302 DOID:3312 NA intron GWASdb_trait 13 23971287 rs9550966 C G rs9550966 1.87E-04 Suicide attempts in bipolar disorder HPOID:0007302 DOID:3312 NA intron GWASdb_trait 13 23971390 rs1359668 C A rs1359668 2.35E-04 Suicide attempts in bipolar disorder HPOID:0007302 DOID:3312 NA intron GWASdb_trait 13 23972835 rs4391906 C T rs4391906 6.48E-04 Suicide attempts in bipolar disorder HPOID:0007302 DOID:3312 T intron GWASdb_trait 13 23978938 rs9507089 T C rs9507089 4.26E-04 Suicide attempts in bipolar disorder HPOID:0007302 DOID:3312 C intron GWASdb_trait 13 23982485 rs9578592 G A rs9578592 7.40E-04 Multiple complex diseases HPOID:0000118 NA G intron GWASdb_trait 13 23984431 rs17078717 A G rs17078717 5.55E-04 Alcohol dependence HPOID:0000707 DOID:0050741 A intron GWASdb_trait 13 23984431 rs17078717 A G rs17078717 7.01E-04 Suicide attempts in bipolar disorder HPOID:0007302 DOID:3312 A intron GWASdb_trait 13 23985391 rs17078720 T C rs17078720 7.89E-04 Suicide attempts in bipolar disorder HPOID:0007302 DOID:3312 T UTR-5 GWASdb_trait 13 23996765 rs10507330 A G rs10507330 3.14E-04 Premature ovarian failure HPOID:0008209 DOID:5426 A intron GWASdb_trait 13 23999136 rs10161585 C T rs10161585 8.53E-04 Suicide attempts in bipolar disorder HPOID:0007302 DOID:3312 C intron GWASdb_trait 13 24001362 rs4083575 T C rs4083575 7.54E-05 Blood Pressure HPOID:0011025 DOID:10763 A intron GWASdb_trait

Disease associated variation - OMIM Ensembl_gene_ID Approved Gene Symbol MIM Number ENSG00000151835.14 SACS 604490