All variants in the SPAST gene

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

209 entries on 3 pages. Showing entries 1 - 100.
Legend   How to query   « First ‹ Prev     1 2 3     Next › Last »

Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Classification method     

Clinical classification     

DNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Owner     
?/. - c.-4688493_*29701616dup r.0? p.0? - VUS g.27600408_62081181dup - chr2:27600408–62081181 - FSHR_000025 - PubMed: Ellingsford 2018 - - Germline - - - - - LOVD
+/. _1_1i c.(?_-221)_(415+1_416-1)del r.0? p.0? - pathogenic (recessive) g.(?_32288680)_(32289316_32312560)del - del ex1 - SPAST_000158 - PubMed: Beetz 2006 - - Germline - - - - - Johan den Dunnen
+/. _1_3i c.(?_-221)_(586+1_587-1)del r.0? p.0? - pathogenic (recessive) g.(?_32288680)_(32314675_32323864)del - del ex1-3 - SPAST_000159 - PubMed: Beetz 2006 - - Germline yes - - - - Johan den Dunnen
+/. _1_7i c.(?_-221)_(1098+1_1099-1)del r.0? p.0? - pathogenic (recessive) g.(?_32288680)_(32341282_32352016)del - del ex1-7 - SPAST_000160 - PubMed: Beetz 2006 - - Germline - - - - - Johan den Dunnen
-?/. - c.-7G>A r.(?) p.(=) - likely benign g.32288894G>A g.32063825G>A - - SPAST_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/+ 10 c.[1246-745_1321+68del;1321+114A>G] r.? p.? - pathogenic g.[32360887_32361775del;32361821A>G] - - - SPAST_000013 - - - - Germline yes - - - - Christian Beetz
+/+ 10 c.[1246-745_1321+68del;1321+114A>G] r.? p.? - pathogenic g.[32360887_32361775del;32361821A>G] - - - SPAST_000013 - - - - Germline/De novo (untested) yes - - - - Christian Beetz
+/. - c.27dup r.(?) p.(Lys10Glufs*38) - pathogenic g.32288927dup g.32063858dup 27dupG - SPAST_000131 - - - - Unknown - - - - - IMGAG
?/. - c.98C>T r.(?) p.(Pro33Leu) - VUS g.32288998C>T g.32063929C>T - - SPAST_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+?/. - c.98del r.(?) p.(Pro33Leufs*27) - likely pathogenic g.32288998del - SPAST(NM_014946.3):c.98delC (p.P33Lfs*27) - SPAST_000194 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. - c.117C>G r.(?) p.(Ala39=) - benign g.32289017C>G g.32063948C>G - - SPAST_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. - c.123G>T r.(?) p.(Pro41=) - likely benign g.32289023G>T g.32063954G>T - - SPAST_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. - c.124C>A r.(?) p.(Pro42Thr) ACMG VUS g.32289024C>A g.32063955C>A - - SPAST_000178 - - - rs367843598 Germline - - - - - Andreas Laner
-?/. - c.131C>T r.(?) p.(Ser44Leu) - likely benign g.32289031C>T g.32063962C>T SPAST(NM_014946.3):c.131C>T (p.S44L), SPAST(NM_014946.4):c.131C>T (p.S44L) - SPAST_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-?/. - c.131C>T r.(?) p.(Ser44Leu) - likely benign g.32289031C>T g.32063962C>T SPAST(NM_014946.3):c.131C>T (p.S44L), SPAST(NM_014946.4):c.131C>T (p.S44L) - SPAST_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. - c.131C>T r.(?) p.(Ser44Leu) - likely benign g.32289031C>T g.32063962C>T SPAST(NM_014946.3):c.131C>T (p.S44L), SPAST(NM_014946.4):c.131C>T (p.S44L) - SPAST_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. - c.131C>T r.(?) p.(Ser44Leu) ACMG VUS (!) g.32289031C>T g.32063962C>T - - SPAST_000017 modifier polymorphism PubMed: Marinakis 2021 - rs1553317049 Germline - - - - - Jan Traeger-Synodinos
-?/. - c.134C>A r.(?) p.(Pro45Gln) - likely benign g.32289034C>A - SPAST(NM_014946.3):c.134C>A (p.P45Q) - SPAST_000201 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. - c.153C>G r.(?) p.(Tyr51Ter) - pathogenic g.32289053C>G g.32063984C>G - - SPAST_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/. - c.165C>G r.(?) p.(Tyr55*) - pathogenic g.32289065C>G - - - SPAST_000189 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. - c.177A>G r.(?) p.(Val59=) - likely benign g.32289077A>G g.32064008A>G SPAST(NM_014946.3):c.177A>G (p.V59=) - SPAST_000138 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.230G>C r.(?) p.(Trp77Ser) - VUS g.32289130G>C - - - SPAST_000202 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/. - c.267dup r.(?) p.(Lys90Glnfs*46) - pathogenic g.32289167dup g.32064098dup 267dupC - SPAST_000015 - - - - Germline/De novo (untested) - - - - - IMGAG
-?/. - c.306C>T r.(?) p.(Ala102=) - likely benign g.32289206C>T g.32064137C>T - - SPAST_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/. - c.361A>T r.(?) p.(Lys121Ter) - pathogenic g.32289261A>T g.32064192A>T - - SPAST_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/. 1i_5i c.(415+1_416-1)_(870+1_871-1)del r.? p.? - pathogenic (recessive) g.(32289316_32312560)_(32339895_32340770)del - del ex2-5 - SPAST_000161 - PubMed: Beetz 2006 - - Germline - - - - - Johan den Dunnen
+?/. 2 c.430C>T r.(?) p.(Gln144*) - likely pathogenic g.32312575C>T g.32087506C>T - - SPAST_000001 - - - - Germline - - - - - David Lynch
?/. - c.452A>C r.(?) p.(Lys151Thr) - VUS g.32312597A>C - SPAST(NM_014946.4):c.452A>C (p.K151T) - SPAST_000210 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
+/. - c.456_460del r.(?) p.(Ile153Argfs*15) - pathogenic g.32312601_32312605del g.32087532_32087536del 456_460delTATTG - SPAST_000134 - - - - Germline/De novo (untested) - - - - - IMGAG
-/. - c.484G>A r.(?) p.(Val162Ile) - benign g.32312629G>A g.32087560G>A SPAST(NM_014946.3):c.484G>A (p.V162I) - SPAST_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. - c.484G>A r.(?) p.(Val162Ile) - likely benign g.32312629G>A - SPAST(NM_014946.3):c.484G>A (p.V162I) - SPAST_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.502+20T>C r.(=) p.(=) - likely benign g.32312667T>C g.32087598T>C - - SPAST_000040 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. - c.547A>G r.(?) p.(Thr183Ala) - VUS g.32314635A>G g.32089566A>G SPAST(NM_014946.3):c.547A>G (p.T183A) - SPAST_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+?/. 3 c.575T>A r.(?) p.(Leu192*) - likely pathogenic g.32314663T>A g.32089594T>A - - SPAST_000002 - - - - Germline - - - - - David Lynch
?/. - c.583C>G r.(?) p.(Leu195Val) - VUS g.32314671C>G g.32089602C>G - - SPAST_000041 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. - c.586+9_586+12del r.(=) p.(=) - VUS g.32314683_32314686del g.32089614_32089617del SPAST(NM_014946.3):c.586+9_586+12delTAAT, SPAST(NM_014946.4):c.586+9_586+12delTAAT - SPAST_000042 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.586+9_586+12del r.(=) p.(=) - likely benign g.32314683_32314686del - SPAST(NM_014946.3):c.586+9_586+12delTAAT, SPAST(NM_014946.4):c.586+9_586+12delTAAT - SPAST_000042 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-/. - c.683-9C>T r.(=) p.(=) - benign g.32339698C>T - - - SPAST_000186 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/. 4i_7i c.(682+1_683-1)_(1098+1_1099-1)del r.? p.? - pathogenic (recessive) g.(32323961_32339706)_(32341282_32352016)del - del ex5-7 - SPAST_000162 - PubMed: Beetz 2006 - - Germline yes - - - - Johan den Dunnen
+/. 4i_15i c.(682+1_683-1)_(1687+1_1688-1)del r.? p.? - pathogenic (recessive) g.(32323961_32339706)_(32370077_32372286)del - del ex5-15 - SPAST_000163 - PubMed: Beetz 2006 - - Germline yes - - - - Johan den Dunnen
+/. 4i_15i c.(682+1_683-1)_(1687+1_1688-1)del r.? p.? - pathogenic (recessive) g.(32323961_32339706)_(32370077_32372286)del - del ex5-15 - SPAST_000163 - PubMed: Beetz 2006 - - Germline yes - - - - Johan den Dunnen
?/. - c.712C>A r.(?) p.(Pro238Thr) - VUS g.32339736C>A - SPAST(NM_014946.3):c.712C>A (p.P238T) - SPAST_000195 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. - c.783dup r.(?) p.(Gly262Argfs*4) - pathogenic g.32339807dup g.32114738dup 783dupA - SPAST_000016 - - - - Germline/De novo (untested) - - - - - IMGAG
+/. - c.807C>A r.(?) p.(Tyr269Ter) - pathogenic g.32339831C>A g.32114762C>A - - SPAST_000139 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/. - c.871-1G>A r.spl? p.? - pathogenic g.32340770G>A g.32115701G>A - - SPAST_000140 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/. 5i_17_ c.(870+1_871-1)_(*3141_?)del r.? p.? - pathogenic (recessive) g.(32339895_32340770)_(32382706_?)del - del ex6-17 - SPAST_000164 - PubMed: Beetz 2006 - - Germline - - - - - Johan den Dunnen
-/. - c.879G>A r.(?) p.(Pro293=) - benign g.32340779G>A g.32115710G>A SPAST(NM_014946.3):c.879G>A (p.P293=), SPAST(NM_014946.4):c.879G>A (p.P293=) - SPAST_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. - c.879G>A r.(?) p.(Pro293=) - likely benign g.32340779G>A g.32115710G>A SPAST(NM_014946.3):c.879G>A (p.P293=), SPAST(NM_014946.4):c.879G>A (p.P293=) - SPAST_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-/. - c.879G>A r.(?) p.(Pro293=) - benign g.32340779G>A g.32115710G>A SPAST(NM_014946.3):c.879G>A (p.P293=), SPAST(NM_014946.4):c.879G>A (p.P293=) - SPAST_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
+/. - c.880A>T r.(?) p.(Lys294*) - pathogenic g.32340780A>T g.32115711A>T - - SPAST_000136 - - - - Unknown - - - - - IMGAG
?/. - c.904T>G r.(?) p.(Ser302Ala) - VUS g.32340804T>G g.32115735T>G - - SPAST_000048 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+?/. - c.955A>T r.(?) p.(Asn319Tyr) - likely pathogenic g.32340855A>T g.32115786A>T - - SPAST_000049 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+?/. - c.978_979insA r.(?) p.(Leu327Thrfs*5) ACMG likely pathogenic (dominant) g.32340878_32340879insA - - - SPAST_000188 ACMG; PVS1, PM2: class 4 - - - Germline ? - - - - Andreas Laner
+/. - c.982dup r.(?) p.(Ile328AsnfsTer4) - pathogenic g.32340882dup g.32115813dup - - SPAST_000170 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/. - c.1004+2T>G r.spl? p.? - pathogenic g.32340906T>G g.32115837T>G - - SPAST_000051 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. - c.1004+3A>C r.(?) p.(?) ACMG VUS g.32340907A>C g.32115838A>C - - SPAST_000177 ACMG: PM2,PP3 - - - Germline - - - - - Andreas Laner
+/. - c.1005-6T>A r.(=) p.(=) - pathogenic g.32341182T>A g.32116113T>A - - SPAST_000052 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/. - c.1005-2A>C r.spl? p.? - pathogenic g.32341186A>C - - - SPAST_000211 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. - c.1010C>T r.(?) p.(Thr337Ile) - VUS g.32341193C>T g.32116124C>T SPAST(NM_014946.3):c.1010C>T (p.T337I) - SPAST_000141 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.1010C>T r.(?) p.(Thr337Ile) - VUS g.32341193C>T - SPAST(NM_014946.3):c.1010C>T (p.T337I) - SPAST_000141 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. - c.1025A>T r.(?) p.(Asp342Val) - VUS g.32341208A>T g.32116139A>T SPAST(NM_014946.4):c.1025A>T (p.D342V) - SPAST_000142 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
?/. - c.1034C>G r.(?) p.(Ala345Gly) ACMG VUS g.32341217C>G - - - SPAST_000193 ACMG: PM1, PM2_SUP, PP3 - - - Germline ? - - - - Andreas Laner
?/. - c.1040A>G r.(?) p.(Gln347Arg) - VUS g.32341223A>G g.32116154A>G - - SPAST_000053 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. - c.1045T>G r.(?) p.(Leu349Val) - VUS g.32341228T>G g.32116159T>G - - SPAST_000054 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. - c.1048G>C r.(?) p.(Ala350Pro) - VUS g.32341231G>C g.32116162G>C - - SPAST_000055 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/. - c.1061T>A r.(?) p.(Leu354Ter) - pathogenic g.32341244T>A g.32116175T>A - - SPAST_000057 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. - c.1066G>A r.(?) p.(Glu356Lys) - VUS g.32341249G>A g.32116180G>A - - SPAST_000171 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/. - c.1072G>T r.(?) p.(Val358Phe) - pathogenic g.32341255G>T g.32116186G>T - - SPAST_000058 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/. - c.1082C>T r.(?) p.(Pro361Leu) - pathogenic g.32341265C>T g.32116196C>T - - SPAST_000059 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+?/. - c.1085C>T r.(?) p.(Ser362Phe) - likely pathogenic g.32341268C>T g.32116199C>T SPAST(NM_014946.4):c.1085C>T (p.S362F) - SPAST_000143 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
+?/. - c.1093C>T r.(?) p.(Pro365Ser) - likely pathogenic g.32341276C>T g.32116207C>T - - SPAST_000144 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. - c.1105A>C r.(?) p.(Thr369Pro) - VUS g.32352023A>C g.32126954A>C - - SPAST_000060 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. - c.1114A>G r.(?) p.(Arg372Gly) - VUS g.32352032A>G g.32126963A>G - - SPAST_000061 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. - c.1133T>G r.(?) p.(Leu378Arg) - VUS g.32352051T>G g.32126982T>G - - SPAST_000062 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. - c.1138C>T r.(?) p.(Leu380Phe) - VUS g.32352056C>T g.32126987C>T SPAST(NM_014946.3):c.1138C>T (p.L380F) - SPAST_000145 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. - c.1148C>A r.(?) p.(Pro383Gln) - pathogenic g.32352066C>A g.32126997C>A - - SPAST_000063 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/. - c.1166C>A r.(?) p.(Thr389Lys) - pathogenic g.32352084C>A g.32127015C>A - - SPAST_000064 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. - c.1169T>C r.(?) p.(Met390Thr) - VUS g.32352087T>C - - - SPAST_000215 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/. - c.1169T>G r.(?) p.(Met390Arg) - pathogenic g.32352087T>G g.32127018T>G - - SPAST_000065 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. - c.1170G>A r.(?) p.(Met390Ile) - VUS g.32352088G>A g.32127019G>A - - SPAST_000066 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+?/. - c.1173G>A r.(?) p.(Leu391=) - likely pathogenic g.32352091G>A g.32127022G>A - - SPAST_000067 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+?/. - c.1173G>A r.spl? p.(Leu391=) - likely pathogenic g.32352091G>A g.32127022G>A - - SPAST_000067 - - - - Unknown - - - - - IMGAG
+/. - c.1173+1G>A r.spl? p.? - pathogenic g.32352092G>A g.32127023G>A - - SPAST_000068 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/. - c.1173+2T>A r.spl? p.? - pathogenic g.32352093T>A g.32127024T>A - - SPAST_000147 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. - c.1173+17A>C r.(=) p.(=) - likely benign g.32352108A>C g.32127039A>C - - SPAST_000069 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/. - c.1174-2A>C r.spl? p.? - pathogenic g.32353475A>C g.32128406A>C - - SPAST_000070 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+?/. - c.1174del r.(?) p.(Ala392LeufsTer4) - likely pathogenic g.32353477del g.32128408del SPAST(NM_014946.3):c.1174-1delG - SPAST_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
?/. - c.1174G>C r.1174g>c p.Ala392Pro - VUS g.32353477G>C g.32128408G>C - - SPAST_000213 - PubMed: Bournazos 2022 - - Germline/De novo (untested) - - - - - Johan den Dunnen
?/. - c.1184T>A r.(?) p.(Val395Glu) - VUS g.32353487T>A g.32128418T>A - - SPAST_000072 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/. - c.1196C>T r.(?) p.(Ser399Leu) - pathogenic g.32353499C>T g.32128430C>T SPAST(NM_014946.4):c.1196C>T (p.S399L) - SPAST_000073 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
+?/. - c.1196C>T r.(?) p.(Ser399Leu) - likely pathogenic g.32353499C>T - SPAST(NM_014946.4):c.1196C>T (p.S399L) - SPAST_000073 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
+/. - c.1204del r.(?) p.(Thr402ProfsTer5) - pathogenic g.32353506del - - - SPAST_000187 - - - - Unknown - - - - - IMGAG
?/. - c.1220G>A r.(?) p.(Ser407Asn) - VUS g.32353523G>A g.32128454G>A - - SPAST_000076 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/. - c.1226C>T r.(?) p.(Ala409Val) - pathogenic g.32353529C>T g.32128460C>T - - SPAST_000077 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/. - c.1238C>A r.(?) p.(Ser413Ter) - pathogenic g.32353541C>A g.32128472C>A - - SPAST_000078 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+?/. - c.1242A>G r.(?) p.(Lys414=) - likely pathogenic g.32353545A>G g.32128476A>G - - SPAST_000079 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. - c.1245C>T r.(?) p.(Tyr415=) - likely benign g.32353548C>T g.32128479C>T SPAST(NM_014946.3):c.1245C>T (p.Y415=) - SPAST_000148 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. - c.1245+1G>A r.spl? p.? - pathogenic g.32353549G>A g.32128480G>A - - SPAST_000081 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/. - c.1245+1G>A r.(?) p.(?) ACMG pathogenic g.32353549G>A g.32128480G>A - - SPAST_000081 ACMG grading: PM2,PM3,PM5,PP3; Saenz et al. 2005. Brain 128: 732 - - rs875989878 Germline - - - - - Andreas Laner
+/. - c.1245+1G>A r.spl p.? - pathogenic g.32353549G>A g.32128480G>A - - SPAST_000081 - PubMed: Thomas 2022 - - Germline - - - - - Johan den Dunnen
Legend   How to query   « First ‹ Prev     1 2 3     Next › Last »