Unique variants in gene SPAST

Information The variants shown are described using the NM_014946.3 transcript reference sequence.

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

Reported     

Exon     

AscendingDNA change (cDNA)     

ClassClinical     

RNA change     

Protein     

DNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Owner     
-?/. 1 - c.-7G>A likely benign r.(=) p.(=) g.32288894G>A - SPAST:NM_014946.3:c.-7G>A (?) - SPAST_000026 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/+ 2 10 c.[1246-745_1321+68del;1321+114A>G] - r.? p.? g.[32360887_32361775del;32361821A>G] - - - SPAST_000013 - - - - Germline, Germline/De novo (untested) yes - - - - Christian Beetz
+/. 1 - c.27dup - r.(?) p.(Lys10Glufs*38) g.32288927dup - 27dupG - SPAST_000131 - - - - Unknown - - - - - IMGAG
?/. 1 - c.98C>T VUS r.(?) p.(Pro33Leu) g.32288998C>T - SPAST:NM_014946.3:c.98C>T (Pro33Leu) - SPAST_000027 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-/. 1 - c.117C>G benign r.(=) p.(=) g.32289017C>G - SPAST:NM_014946.3:c.117C>G (=) - SPAST_000028 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. 1 - c.123G>T likely benign r.(=) p.(=) g.32289023G>T - SPAST:NM_014946.3:c.123G>T (=) - SPAST_000029 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. 3 - c.131C>T likely benign r.(?) p.(Ser44Leu) g.32289031C>T - SPAST:c.131C>T (S44L), SPAST: (Ser44Leu) - SPAST_000017 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht, VKGL-NL_Nijmegen, VKGL-NL_Groningen
+/. 1 - c.149_151delinsG pathogenic r.(?) p.(Leu50Argfs*85) g.32289049_32289051delinsG - SPAST:NM_014946.3:c.149_151delinsG (Leu50fs) - SPAST_000030 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/. 1 - c.153C>G pathogenic r.(?) p.(Tyr51*) g.32289053C>G - SPAST:NM_014946.3:c.153C>G (Tyr51*) - SPAST_000031 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/. 1 - c.155_156dup pathogenic r.(?) p.(Phe53Ilefs*8) g.32289055_32289056dup - SPAST:NM_014946.3:c.155_156dup (Phe53fs) - SPAST_000032 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/. 1 - c.267dup - r.(?) p.(Lys90Glnfs*46) g.32289167dup - 267dupC - SPAST_000015 - - - - Germline/De novo (untested) - - - - - IMGAG
-?/. 1 - c.306C>T likely benign r.(=) p.(=) g.32289206C>T - SPAST:NM_014946.3:c.306C>T (=) - SPAST_000033 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/. 1 - c.328_340del pathogenic r.(?) p.(Gly110Serfs*47) g.32289228_32289240del - SPAST:NM_014946.3:c.328_340del (Gly110fs) - SPAST_000034 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/. 1 - c.361A>T pathogenic r.(?) p.(Lys121*) g.32289261A>T - SPAST:NM_014946.3:c.361A>T (Lys121*) - SPAST_000035 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/. 1 - c.422dup pathogenic r.(?) p.(Lys142Glufs*9) g.32312567dup - SPAST:NM_014946.3:c.422dup (Lys142fs) - SPAST_000036 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+?/. 1 2 c.430C>T - r.(?) p.(Gln144*) g.32312575C>T g.32087506C>T - - SPAST_000001 - - - - Germline - - - - - David Lynch
+/. 1 - c.474del pathogenic r.(?) p.(Gly159Glufs*2) g.32312619del - SPAST:NM_014946.3:c.474del (Gly159fs) - SPAST_000037 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. 1 - c.484G>A likely benign r.(?) p.(Val162Ile) g.32312629G>A - SPAST:NM_014946,3:c.484g>a (Val162Ile) - SPAST_000038 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/. 1 - c.487dup pathogenic r.(?) p.(Ile163Asnfs*7) g.32312632dup - SPAST:NM_014946.3:c.487dup (Ile163fs) - SPAST_000039 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. 1 - c.502+20T>C likely benign r.(=) p.(=) g.32312667T>C - SPAST:NM_014946.3:c.502+20T>C - SPAST_000040 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. 1 - c.547A>G VUS r.(?) p.(Thr183Ala) g.32314635A>G - SPAST:c.547A>G (T183A) - SPAST_000018 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+?/. 1 3 c.575T>A - r.(?) p.(Leu192*) g.32314663T>A g.32089594T>A - - SPAST_000002 - - - - Germline - - - - - David Lynch
?/. 1 - c.583C>G VUS r.(?) p.(Leu195Val) g.32314671C>G - SPAST:NM_014946.3:c.583C>G (Leu195Val) - SPAST_000041 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. 1 - c.586+9_586+12del VUS r.(=) p.(=) g.32314683_32314686del - SPAST:NM_014946.3:c.586+9_586+12de (?) - SPAST_000042 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/. 1 - c.706_710del pathogenic r.(?) p.(Lys236Profs*6) g.32339730_32339734del - SPAST:NM_014946.3:c.706_710del (Lys236fs) - SPAST_000043 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/. 1 - c.722del pathogenic r.(?) p.(His241Profs*13) g.32339746del - SPAST:NM_014946.3:c.722del (His241fs) - SPAST_000044 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/. 1 - c.723del pathogenic r.(?) p.(His241Glnfs*13) g.32339747del - SPAST:NM_014946.3:c.723del (His241fs) - SPAST_000045 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/. 1 - c.783dup - r.(?) p.(Gly262Argfs*4) g.32339807dup - 783dupA - SPAST_000016 - - - - Germline/De novo (untested) - - - - - IMGAG
+/. 1 - c.790del pathogenic r.(?) p.(His264Ilefs*15) g.32339814del - SPAST:NM_014946.3:c.790del (His264IlefsX) - SPAST_000046 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/. 1 - c.806dup pathogenic r.(?) p.(Tyr269*) g.32339830dup - SPAST:NM_014946.3:c.806dup (Tyr269*) - SPAST_000047 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-/., -?/. 2 - c.879G>A benign, likely benign r.(=) p.(=) g.32340779G>A - SPAST:c.879G>A (=), SPAST:NM_014946.3:c.879G>A (=) - SPAST_000019 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht, VKGL-NL_Nijmegen
?/. 1 - c.904T>G VUS r.(?) p.(Ser302Ala) g.32340804T>G - SPAST:NM_014946.3:c.904T>G - SPAST_000048 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+?/. 1 - c.955A>T likely pathogenic r.(?) p.(Asn319Tyr) g.32340855A>T - SPAST:NM_014946,3:c.955A>T (Asn319Tyr) - SPAST_000049 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/. 1 - c.977del pathogenic r.(?) p.(Asn326Thrfs*3) g.32340877del - SPAST:NM_014946.3:c.977del (Asn326fs) - SPAST_000050 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+?/. 1 - c.1004+2T>G likely pathogenic r.spl? p.? g.32340906T>G - SPAST:NM_014946.3:c.1004+2T>G - SPAST_000051 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/. 1 - c.1005-6T>A pathogenic r.(=) p.(=) g.32341182T>A - SPAST:NM_014946.3:c.1005-7_1005-6delinsAA (?) - SPAST_000052 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. 1 - c.1040A>G VUS r.(?) p.(Gln347Arg) g.32341223A>G - SPAST:NM_014946.3:c.1040A>G (Gln347Arg) - SPAST_000053 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. 1 - c.1045T>G VUS r.(?) p.(Leu349Val) g.32341228T>G - SPAST:NM_014946.3:c.1045T>G (Leu349Val) - SPAST_000054 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. 1 - c.1048G>C VUS r.(?) p.(Ala350Pro) g.32341231G>C - SPAST:NM_014946.3:c.1048G>C (Ala350Pro) - SPAST_000055 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/. 1 - c.1054C>T pathogenic r.(?) p.(Gln352*) g.32341237C>T - SPAST:NM_014946.3:c.1054C>T (Gln352*) - SPAST_000056 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/. 1 - c.1061T>A pathogenic r.(?) p.(Leu354*) g.32341244T>A - SPAST: (Leu354X) - SPAST_000057 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/. 1 - c.1072G>T pathogenic r.(?) p.(Val358Phe) g.32341255G>T - SPAST:NM_014946.3:c.1072G>T (Val358Phe) - SPAST_000058 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/. 1 - c.1082C>T pathogenic r.(?) p.(Pro361Leu) g.32341265C>T - SPAST: (Pro361Leu) - SPAST_000059 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. 1 - c.1105A>C VUS r.(?) p.(Thr369Pro) g.32352023A>C - SPAST: (Thr369Pro) - SPAST_000060 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. 1 - c.1114A>G VUS r.(?) p.(Arg372Gly) g.32352032A>G - SPAST:NM_014946.3:c.1114A>G (Arg372Gly) - SPAST_000061 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. 1 - c.1133T>G VUS r.(?) p.(Leu378Arg) g.32352051T>G - SPAST:NM_014946.3:c.1133T>G (Leu378Arg) - SPAST_000062 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/. 1 - c.1148C>A pathogenic r.(?) p.(Pro383Gln) g.32352066C>A - SPAST:NM_014946.3:c.1148C>A (Pro383Gln) - SPAST_000063 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/. 1 - c.1166C>A pathogenic r.(?) p.(Thr389Lys) g.32352084C>A - SPAST: (Thr389Lys) - SPAST_000064 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/. 1 - c.1169T>G pathogenic r.(?) p.(Met390Arg) g.32352087T>G - SPAST:NM_014946.3:c.1169T>G (Met390Arg) - SPAST_000065 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. 1 - c.1170G>A VUS r.(?) p.(Met390Ile) g.32352088G>A - SPAST:NM_14946.3:c.1170G>A (Met390Ile) - SPAST_000066 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+?/. 1 - c.1173G>A likely pathogenic r.(=) p.(=) g.32352091G>A - SPAST:NM_014946.3:c.1173G>A (=) - SPAST_000067 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/. 1 - c.1173+1G>A pathogenic r.spl? p.? g.32352092G>A - SPAST:NM_014946.3:c.1173+1G>A (? (r.spl?) - SPAST_000068 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. 1 - c.1173+17A>C likely benign r.(=) p.(=) g.32352108A>C - SPAST: (=) - SPAST_000069 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/. 1 - c.1174-2A>C pathogenic r.spl? p.? g.32353475A>C - SPAST:NM_014946.3:c.1174-2A>C (r.spl?) - SPAST_000070 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+?/. 1 - c.1174-1del likely pathogenic r.(=) p.(=) g.32353476del - SPAST:c.1174-1delG - SPAST_000020 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
+/. 1 - c.1174del pathogenic r.(?) p.(Ala392Leufs*4) g.32353477del - SPAST:NM_014946.3:c.1174del (Ala392fs/?) - SPAST_000071 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. 1 - c.1184T>A VUS r.(?) p.(Val395Glu) g.32353487T>A - SPAST:NM_014946.3:c.1184T>A (Val395Glu) - SPAST_000072 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/. 1 - c.1196C>T pathogenic r.(?) p.(Ser399Leu) g.32353499C>T - SPAST:NM_014946.3:c.1196C>T (Ser399Leu) - SPAST_000073 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/. 1 - c.1216A>G pathogenic r.(?) p.(Ile406Val) g.32353519A>G - SPAST:NM_014946.3:c.1216A>G (Ile406_Tyr415del) - SPAST_000074 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/. 1 - c.1217del pathogenic r.(?) p.(Ile406Lysfs*6) g.32353520del - SPAST:NM_014946.3:c.1217del (Ile406fs) - SPAST_000075 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. 1 - c.1220G>A VUS r.(?) p.(Ser407Asn) g.32353523G>A - SPAST:NM_014946.3:c.1220G>A (Ser407Asn) - SPAST_000076 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/. 1 - c.1226C>T pathogenic r.(?) p.(Ala409Val) g.32353529C>T - SPAST:NM_014946,3:c.1226C>T (Ala409Val) - SPAST_000077 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/. 1 - c.1238C>A pathogenic r.(?) p.(Ser413*) g.32353541C>A - SPAST:NM_014946.3:c.1238C>A (Ser413*) - SPAST_000078 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+?/. 1 - c.1242A>G likely pathogenic r.(=) p.(=) g.32353545A>G - SPAST:NM_014946.3:c.1242A>G (Lys414Lys) - SPAST_000079 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/. 1 - c.1245del pathogenic r.(?) p.(Tyr415*) g.32353548del - SPAST:NM_014946.3:c.1245del (Tyr415*) - SPAST_000080 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/. 1 - c.1245+1G>A pathogenic r.spl? p.? g.32353549G>A - SPAST:NM_014946.3:c.1245+1G>A (?) - SPAST_000081 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+?/. 1 - c.1245+5G>C likely pathogenic r.spl? p.? g.32353553G>C - SPAST - SPAST_000082 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/+ 1 10 c.1246-745_1321+68del - r.(?) p.(Val416Metfs*21) g.32360887_32361775del g.32135818_32136706del deletion exon 10 (Beetz et al., 2006, Neurology 67:1926) - SPAST_000012 - - - - Germline ? - - - - Christian Beetz
+?/. 1 9i_12i c.1246-155_1494-1132delinsCCACCGCGCCCGGCC - r.? p.? g.32361477_32365841delinsCCACCGCGCCCGGCC g.32136408_32140772delinsCCACCGCGCCCGGCC ex10-12del - SPAST_000008 suggested to have originated from an ancestral variant allele SPAST_000010 in revision for EJHG - - Germline yes - - - - Christian Beetz
+/. 1 - c.1266G>C pathogenic r.(?) p.(Leu422Phe) g.32361652G>C - SPAST:NM_014946.3:c.1266G>C (Leu422Phe) - SPAST_000083 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+?/. 1 - c.1276C>G likely pathogenic r.(?) p.(Leu426Val) g.32361662C>G - SPAST:NM_014946.3:c.1276C>G (Leu426Val) - SPAST_000085 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+?/. 1 - c.1276C>T likely pathogenic r.(?) p.(Leu426Phe) g.32361662C>T - SPAST:NM_014946.3:c.1276C>T (Leu426Phe) - SPAST_000084 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. 1 - c.1279T>C VUS r.(?) p.(Phe427Leu) g.32361665T>C - SPAST:NM_014946.3:c.1279T>C (Phe427Leu) - SPAST_000086 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/. 1 - c.1304del pathogenic r.(?) p.(Pro435Leufs*3) g.32361690del - SPAST:NM_014946.3:c.1304del (Pro435fs) - SPAST_000087 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. 1 - c.1322-37del likely benign r.(=) p.(=) g.32361909del - SPAST:NM_014946.3:c.1322-37del (?) - SPAST_000088 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. 1 - c.1322-2A>C VUS r.spl? p.? g.32361944A>C - SPAST:NM_014946.3:c.1322-2A>C - SPAST_000089 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. 1 11 c.1322A>T - r.(spl?) p.(Asp441Val) g.32361946A>T g.32136877A>T - - SPAST_000006 - - - - Germline ? - - - - David Lynch
+/. 1 - c.1326A>T pathogenic r.(?) p.(Glu442Asp) g.32361950A>T - SPAST:NM_014946.3:c.1326A>T (Glu442Asp) - SPAST_000090 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/. 1 - c.1350_1351del pathogenic r.(?) p.(Glu452Argfs*6) g.32361974_32361975del - SPAST:NM_014946.3:c.1350_1351del (Glu452fs) - SPAST_000091 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+?/., ?/. 2 - c.1361A>C likely pathogenic, VUS r.(?) p.(Glu454Ala) g.32361985A>C - SPAST:NM_014946.3:c.1361A>C (Glu454Ala), SPAST:c.1361A>C (E454A) - SPAST_000021 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen, VKGL-NL_Utrecht
+?/. 1 - c.1378C>A likely pathogenic r.(?) p.(Arg460Ser) g.32362002C>A - SPAST: (Arg460Ser) - SPAST_000093 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/. 1 - c.1378C>T pathogenic r.(?) p.(Arg460Cys) g.32362002C>T - SPAST:NM_014969.3:c.1378C>T (Arg460Cys) - SPAST_000092 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. 1 - c.1379G>A VUS r.(?) p.(Arg460His) g.32362003G>A - SPAST:NM_014946.3:c.1379G>A (Arg460His) - SPAST_000094 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. 1 - c.1385A>G VUS r.(?) p.(Lys462Arg) g.32362009A>G - SPAST:NM_014946.3:c.1385A>G (Lys462Arg) - SPAST_000095 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/. 1 11 c.1385_1389del - r.(?) p.(Lys462Argfs*7) g.32362009_32362013del g.32136940_32136944del - - SPAST_000014 - - - - Germline/De novo (untested) - - - - - Gemeinschaftspraxis für Humangenetik Dresden
+?/. 1 - c.1413+3_1413+6del likely pathogenic r.spl? p.? g.32362040_32362043del - SPAST:NM_014946.3:c.1413+3_1413+6del (?) - SPAST_000096 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-/. 1 - c.1413+38_1413+39insTATA benign r.(=) p.(=) g.32362075_32362076insTATA - SPAST:NM_014946.3:c.1413+38_1413+39insTATA (?) - SPAST_000097 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/+? 1 12 c.1417C>T - r.(?) p.(Gln473*) g.32362181C>T g.32137112C>T - - SPAST_000007 - - - - Germline - - - - - David Lynch
?/. 1 - c.1444G>A VUS r.(?) p.(Val482Ile) g.32362208G>A - SPAST:NM_014969.3:c.1444G>A (Val482Ile) - SPAST_000098 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. 1 - c.1448T>C VUS r.(?) p.(Met483Thr) g.32362212T>C - SPAST:NM_014946.3:c.1448T>C (Met483Thr) - SPAST_000099 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+?/. 1 - c.1449G>T likely pathogenic r.(?) p.(Met483Ile) g.32362213G>T - SPAST:NM_014946.3:c.1449G>T (Met483Ile) - SPAST_000100 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+?/. 1 - c.1450G>C likely pathogenic r.(?) p.(Gly484Arg) g.32362214G>C - SPAST:NM_014946.3:c.1450G>C (Gly484Arg) - SPAST_000101 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/. 1 - c.1461dup pathogenic r.(?) p.(Arg488*) g.32362225dup - SPAST:NM_014946.3:c.1461dup (Arg488*) - SPAST_000102 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+?/. 1 - c.1466C>T likely pathogenic r.(?) p.(Pro489Leu) g.32362230C>T - SPAST:NM_014946.3:c.1466C>T (Pro489Leu) - SPAST_000103 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/. 1 - c.1493+2T>G pathogenic r.spl? p.? g.32362259T>G - SPAST:NM_014946.3:c.1493+2T>G (?) - SPAST_000104 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. 1 - c.1493+18G>T likely benign r.(=) p.(=) g.32362275G>T - SPAST:NM_014946.3:c.1493+18G>T (?) - SPAST_000105 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. 1 12i c.1494-1116_1494-1115ins(AluYb8)ins1494-1131_1494-1116 - r.? p.? g.32365857_32365858ins(AluYb8)ins32365842_32365857 - hypothetical - SPAST_000010 suggested ancestral allele of the 2 deletions reported in revision for EJHG - - Germline - - - - - Christian Beetz
+?/. 1 12i_16i c.1494-1115_1728+625delinsNC_000006.12:g.117393-117647inv - r.? p.? g.32365858_32372952delinsNC_000006.12:g.117393_117647inv - ex13_16del - SPAST_000009 suggested to have originated from an ancestral variant allele SPAST_000010 in revision for EJHG (as of 2016/01/06) - - Germline yes - - - - Christian Beetz
-/. 1 - c.1494-15_1494-14insT benign r.(=) p.(=) g.32366958_32366959insT - SPAST:c.1494-14_1494-13insT - SPAST_000022 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/. 1 - c.1494-13del benign r.spl? p.? g.32366960del - SPAST:c.1494-13delT - SPAST_000023 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
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