KANK1 — 1129 ClinVar variants
All ClinVar germline KANK1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 591 flagged for review →
1 Likely pathogenic · 62 Conflicting · 85 Benign · 42 Benign/Likely benign · 315 Likely benign · 624 Uncertain significance
Full KANK1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 591
Variants where the independent computational evidence doesn't line up with the clinical picture — a QC signal for a second look, not a reclassification.
Predictors vs ClinVar 1
ClinVar calls these pathogenic, but the computational predictors lean tolerated — the highest-value review flag.
-
KANK1 p.Ile1079Met
Likely pathogenic
Single submitter
Abnormal brain morphology
Predictors agree, ClinVar conflicts 46
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
- KANK1 p.Ala646Thr Conflicting Single submitter
-
KANK1 p.Ala654Asp
Conflicting
Single submitter
intellectual disability
- KANK1 p.Ala660Val Conflicting Single submitter
-
KANK1 p.Ala990Thr
Conflicting
Single submitter
cerebral palsy, spastic quadriplegic, 2
-
KANK1 p.Arg1044Trp
Conflicting
Single submitter
cerebral palsy, spastic quadriplegic, 2
- KANK1 p.Arg483Gln Conflicting Single submitter
- KANK1 p.Arg580Gln Conflicting Single submitter
- KANK1 p.Arg626Gln Conflicting Single submitter
-
KANK1 p.Arg648Gln
Conflicting
Single submitter
cerebral palsy, spastic quadriplegic, 2
- KANK1 p.Arg829Cys Conflicting Single submitter
- KANK1 p.Asn328Ser Conflicting Single submitter
- KANK1 p.Asn984Ile Conflicting Single submitter
- KANK1 p.Asp1023Gly Conflicting Single submitter
- KANK1 p.Asp1149His Conflicting Single submitter
- KANK1 p.Asp704Asn Conflicting Single submitter
- KANK1 p.Glu1073Gln Conflicting Single submitter
-
KANK1 p.Glu1176Gln
Conflicting
Single submitter
cerebral palsy, spastic quadriplegic, 2
- KANK1 p.Glu473Lys Conflicting Single submitter
- KANK1 p.Glu601Lys Conflicting Single submitter
-
KANK1 p.Gly1294Ser
Conflicting
Single submitter
cerebral palsy, spastic quadriplegic, 2
- KANK1 p.Gly896Arg Conflicting Single submitter
-
KANK1 p.Ile692Val
Conflicting
Single submitter
cerebral palsy, spastic quadriplegic, 2
- KANK1 p.Ile937Val Conflicting Single submitter
- KANK1 p.Leu152Ile Conflicting Single submitter
- KANK1 p.Lys101Arg Conflicting Single submitter
-
KANK1 p.Lys423Asn
Conflicting
Single submitter
cerebral palsy, spastic quadriplegic, 2
- KANK1 p.Lys453Glu Conflicting Single submitter
- KANK1 p.Lys466Arg Conflicting Single submitter
- KANK1 p.Met235Thr Conflicting Single submitter
- KANK1 p.Phe32Ser Conflicting Single submitter
- KANK1 p.Pro36Leu Conflicting Single submitter
- KANK1 p.Pro553Arg Conflicting Single submitter
- KANK1 p.Pro74Leu Conflicting Single submitter
-
KANK1 p.Pro76Ser
Conflicting
Single submitter
cerebral palsy, spastic quadriplegic, 2
- KANK1 p.Thr253Ser Conflicting Single submitter
- KANK1 p.Thr536Arg Conflicting Single submitter
- KANK1 p.Thr673Ser Conflicting Single submitter
- KANK1 p.Thr688Ser Conflicting Single submitter
- KANK1 p.Thr922Ile Conflicting Single submitter
- KANK1 p.Tyr1139Cys Conflicting Single submitter
- KANK1 p.Val1125Ala Conflicting Single submitter
- KANK1 p.Val1150Ile Conflicting Single submitter
- KANK1 p.Val501Ile Conflicting Single submitter
-
KANK1 p.Val637Met
Conflicting
Single submitter
cerebral palsy, spastic quadriplegic, 2
- KANK1 p.Val639Ile Conflicting Single submitter
- KANK1 p.Val662Ile Conflicting Single submitter
Predictors lean, ClinVar uncertain 462
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification. · showing the 150 best-reviewed of 462
- KANK1 p.Ala109Thr Uncertain significance Multiple submitters
-
KANK1 p.Ala1203Val
Uncertain significance
Multiple submitters
cerebral palsy, spastic quadriplegic, 2
-
KANK1 p.Ala1255Asp
Uncertain significance
Multiple submitters
cerebral palsy, spastic quadriplegic, 2
-
KANK1 p.Ala228Gly
Uncertain significance
Multiple submitters
cerebral palsy, spastic quadriplegic, 2
-
KANK1 p.Ala718Gly
Uncertain significance
Multiple submitters
cerebral palsy, spastic quadriplegic, 2
- KANK1 p.Ala961Thr Uncertain significance Multiple submitters
- KANK1 p.Arg1044Gln Uncertain significance Multiple submitters
- KANK1 p.Arg1348Gln Uncertain significance Multiple submitters
- KANK1 p.Arg264Cys Uncertain significance Multiple submitters
- KANK1 p.Arg273His Uncertain significance Multiple submitters
- KANK1 p.Arg337Gln Uncertain significance Multiple submitters
- KANK1 p.Arg337Trp Uncertain significance Multiple submitters
-
KANK1 p.Arg420Ser
Uncertain significance
Multiple submitters
cerebral palsy, spastic quadriplegic, 2
-
KANK1 p.Arg471His
Uncertain significance
Multiple submitters
cerebral palsy, spastic quadriplegic, 2
- KANK1 p.Arg66Gly Uncertain significance Multiple submitters
- KANK1 p.Arg723His Uncertain significance Multiple submitters
- KANK1 p.Arg829His Uncertain significance Multiple submitters
- KANK1 p.Asn100Asp Uncertain significance Multiple submitters
-
KANK1 p.Asn1094Ser
Uncertain significance
Multiple submitters
cerebral palsy, spastic quadriplegic, 2
- KANK1 p.Asn1325Ser Uncertain significance Multiple submitters
- KANK1 p.Asn874Ser Uncertain significance Multiple submitters
- KANK1 p.Asn96Ser Uncertain significance Multiple submitters
- KANK1 p.Asp1023Asn Uncertain significance Multiple submitters
- KANK1 p.Asp579Asn Uncertain significance Multiple submitters
- KANK1 p.Asp612Asn Uncertain significance Multiple submitters
- KANK1 p.Cys600Ser Uncertain significance Multiple submitters
-
KANK1 p.Cys781Ser
Uncertain significance
Multiple submitters
cerebral palsy, spastic quadriplegic, 2
-
KANK1 p.Gln112Pro
Uncertain significance
Multiple submitters
cerebral palsy, spastic quadriplegic, 2
-
KANK1 p.Gln362His
Uncertain significance
Multiple submitters
cerebral palsy, spastic quadriplegic, 2
- KANK1 p.Gln53Lys Uncertain significance Multiple submitters
-
KANK1 p.Gln706His
Uncertain significance
Multiple submitters
KANK1-related disorder
- KANK1 p.Glu1071Asp Uncertain significance Multiple submitters
- KANK1 p.Glu1209Lys Uncertain significance Multiple submitters
-
KANK1 p.Glu1281Gly
Uncertain significance
Multiple submitters
cerebral palsy, spastic quadriplegic, 2
- KANK1 p.Glu265Lys Uncertain significance Multiple submitters
-
KANK1 p.Glu406Lys
Uncertain significance
Multiple submitters
cerebral palsy, spastic quadriplegic, 2
- KANK1 p.Glu624Gln Uncertain significance Multiple submitters
- KANK1 p.Glu687Lys Uncertain significance Multiple submitters
-
KANK1 p.Glu693Lys
Uncertain significance
Multiple submitters
cerebral palsy, spastic quadriplegic, 2
-
KANK1 p.Gly1245Arg
Uncertain significance
Multiple submitters
cerebral palsy, spastic quadriplegic, 2
-
KANK1 p.Gly1278Arg
Uncertain significance
Multiple submitters
cerebral palsy, spastic quadriplegic, 2
-
KANK1 p.Gly16Arg
Uncertain significance
Multiple submitters
cerebral palsy, spastic quadriplegic, 2
- KANK1 p.Gly203Arg Uncertain significance Multiple submitters
- KANK1 p.Gly343Arg Uncertain significance Multiple submitters
- KANK1 p.Gly428Glu Uncertain significance Multiple submitters
- KANK1 p.Gly528Ser Uncertain significance Multiple submitters
- KANK1 p.Gly548Ser Uncertain significance Multiple submitters
- KANK1 p.Gly747Arg Uncertain significance Multiple submitters
-
KANK1 p.Gly789Val
Uncertain significance
Multiple submitters
cerebral palsy, spastic quadriplegic, 2
- KANK1 p.Gly822Ala Uncertain significance Multiple submitters
-
KANK1 p.His825Arg
Uncertain significance
Multiple submitters
cerebral palsy, spastic quadriplegic, 2
- KANK1 p.Ile1079Asn Uncertain significance Multiple submitters
- KANK1 p.Ile1100Val Uncertain significance Multiple submitters
- KANK1 p.Ile1140Leu Uncertain significance Multiple submitters
- KANK1 p.Ile1247Met Uncertain significance Multiple submitters
-
KANK1 p.Ile628Val
Uncertain significance
Multiple submitters
cerebral palsy, spastic quadriplegic, 2
-
KANK1 p.Ile85Met
Uncertain significance
Multiple submitters
cerebral palsy, spastic quadriplegic, 2
-
KANK1 p.Ile977Val
Uncertain significance
Multiple submitters
cerebral palsy, spastic quadriplegic, 2
-
KANK1 p.Leu895Met
Uncertain significance
Multiple submitters
cerebral palsy, spastic quadriplegic, 2
-
KANK1 p.Lys156Glu
Uncertain significance
Multiple submitters
cerebral palsy, spastic quadriplegic, 2
- KANK1 p.Lys623Arg Uncertain significance Multiple submitters
-
KANK1 p.Met1046Thr
Uncertain significance
Multiple submitters
cerebral palsy, spastic quadriplegic, 2
-
KANK1 p.Met409Val
Uncertain significance
Multiple submitters
cerebral palsy, spastic quadriplegic, 2
- KANK1 p.Met577Arg Uncertain significance Multiple submitters
- KANK1 p.Phe1143Ser Uncertain significance Multiple submitters
- KANK1 p.Phe512Ser Uncertain significance Multiple submitters
- KANK1 p.Pro104Leu Uncertain significance Multiple submitters
- KANK1 p.Pro1332Ala Uncertain significance Multiple submitters
-
KANK1 p.Pro1332Leu
Uncertain significance
Multiple submitters
cerebral palsy, spastic quadriplegic, 2
-
KANK1 p.Pro145Ser
Uncertain significance
Multiple submitters
cerebral palsy, spastic quadriplegic, 2
- KANK1 p.Pro176Ser Uncertain significance Multiple submitters
- KANK1 p.Pro30Ser Uncertain significance Multiple submitters
-
KANK1 p.Pro666Leu
Uncertain significance
Multiple submitters
cerebral palsy, spastic quadriplegic, 2
- KANK1 p.Pro74Arg Uncertain significance Multiple submitters
-
KANK1 p.Pro784Arg
Uncertain significance
Multiple submitters
cerebral palsy, spastic quadriplegic, 2
- KANK1 p.Pro816Leu Uncertain significance Multiple submitters
- KANK1 p.Pro888Arg Uncertain significance Multiple submitters
- KANK1 p.Ser389Ala Uncertain significance Multiple submitters
-
KANK1 p.Ser604Asn
Uncertain significance
Multiple submitters
cerebral palsy, spastic quadriplegic, 2
-
KANK1 p.Ser674Gly
Uncertain significance
Multiple submitters
cerebral palsy, spastic quadriplegic, 2
- KANK1 p.Ser875Cys Uncertain significance Multiple submitters
- KANK1 p.Ser879Pro Uncertain significance Multiple submitters
- KANK1 p.Ser914Leu Uncertain significance Multiple submitters
- KANK1 p.Ser97Thr Uncertain significance Multiple submitters
- KANK1 p.Thr127Ile Uncertain significance Multiple submitters
- KANK1 p.Thr505Arg Uncertain significance Multiple submitters
-
KANK1 p.Thr536Lys
Uncertain significance
Multiple submitters
cerebral palsy, spastic quadriplegic, 2
- KANK1 p.Thr536Met Uncertain significance Multiple submitters
-
KANK1 p.Thr688Met
Uncertain significance
Multiple submitters
cerebral palsy, spastic quadriplegic, 2
- KANK1 p.Thr893Asn Uncertain significance Multiple submitters
- KANK1 p.Thr949Ala Uncertain significance Multiple submitters
- KANK1 p.Tyr965Cys Uncertain significance Multiple submitters
-
KANK1 p.Val357Leu
Uncertain significance
Multiple submitters
cerebral palsy, spastic quadriplegic, 2
-
KANK1 p.Val542Met
Uncertain significance
Multiple submitters
cerebral palsy, spastic quadriplegic, 2
- KANK1 p.Val560Ile Uncertain significance Multiple submitters
-
KANK1 p.Val575Met
Uncertain significance
Multiple submitters
cerebral palsy, spastic quadriplegic, 2
- KANK1 p.Val71Met Uncertain significance Multiple submitters
-
KANK1 p.Val754Gly
Uncertain significance
Multiple submitters
cerebral palsy, spastic quadriplegic, 2
-
KANK1 p.Val797Met
Uncertain significance
Multiple submitters
cerebral palsy, spastic quadriplegic, 2
- KANK1 p.Ala1061Gly Uncertain significance Single submitter
- KANK1 p.Ala1061Val Uncertain significance Single submitter
- KANK1 p.Ala1131Pro Uncertain significance Single submitter
- KANK1 p.Ala1141Gly Uncertain significance Single submitter
- KANK1 p.Ala1165Thr Uncertain significance Single submitter
- KANK1 p.Ala1204Val Uncertain significance Single submitter
- KANK1 p.Ala1230Gly Uncertain significance Single submitter
- KANK1 p.Ala1230Thr Uncertain significance Single submitter
- KANK1 p.Ala1237Val Uncertain significance Single submitter
- KANK1 p.Ala1255Val Uncertain significance Single submitter
- KANK1 p.Ala1274Gly Uncertain significance Single submitter
- KANK1 p.Ala1304Val Uncertain significance Single submitter
- KANK1 p.Ala1308Thr Uncertain significance Single submitter
- KANK1 p.Ala1308Val Uncertain significance Single submitter
- KANK1 p.Ala1311Thr Uncertain significance Single submitter
- KANK1 p.Ala1327Val Uncertain significance Single submitter
- KANK1 p.Ala15Glu Uncertain significance Single submitter
- KANK1 p.Ala208Gly Uncertain significance Single submitter
- KANK1 p.Ala226Thr Uncertain significance Single submitter
- KANK1 p.Ala226Val Uncertain significance Single submitter
- KANK1 p.Ala228Val Uncertain significance Single submitter
- KANK1 p.Ala229Thr Uncertain significance Single submitter
- KANK1 p.Ala326Gly Uncertain significance Single submitter
- KANK1 p.Ala326Val Uncertain significance Single submitter
- KANK1 p.Ala329Thr Uncertain significance Single submitter
- KANK1 p.Ala402Val Uncertain significance Single submitter
- KANK1 p.Ala425Thr Uncertain significance Single submitter
- KANK1 p.Ala426Gly Uncertain significance Single submitter
- KANK1 p.Ala426Val Uncertain significance Single submitter
- KANK1 p.Ala495Thr Uncertain significance Single submitter
- KANK1 p.Ala753Gly Uncertain significance Single submitter
- KANK1 p.Ala792Thr Uncertain significance Single submitter
- KANK1 p.Ala942Gly Uncertain significance Single submitter
- KANK1 p.Ala962Ser Uncertain significance Single submitter
- KANK1 p.Ala962Thr Uncertain significance Single submitter
-
KANK1 p.Ala962Val
Uncertain significance
Single submitter
cerebral palsy, spastic quadriplegic, 2
- KANK1 p.Arg1082Lys Uncertain significance Single submitter
- KANK1 p.Arg1246Gln Uncertain significance Single submitter
- KANK1 p.Arg1246Trp Uncertain significance Single submitter
- KANK1 p.Arg162Gln Uncertain significance Single submitter
- KANK1 p.Arg169Thr Uncertain significance Single submitter
- KANK1 p.Arg322Gln Uncertain significance Single submitter
- KANK1 p.Arg340Ser Uncertain significance Single submitter
- KANK1 p.Arg393Lys Uncertain significance Single submitter
- KANK1 p.Arg393Ser Uncertain significance Single submitter
- KANK1 p.Arg399Trp Uncertain significance Single submitter
- KANK1 p.Arg417Lys Uncertain significance Single submitter
- KANK1 p.Arg434Lys Uncertain significance Single submitter
- KANK1 p.Arg471Cys Uncertain significance Single submitter
- KANK1 p.Arg471Leu Uncertain significance Single submitter
- KANK1 p.Arg483Trp Uncertain significance Single submitter
Predictors split 82
The independent predictors disagree with each other — read with care.
- KANK1 p.Asn328Lys Uncertain significance Multiple submitters
- KANK1 p.Gln1289His Uncertain significance Multiple submitters
- KANK1 p.Glu1020Lys Uncertain significance Multiple submitters
- KANK1 p.Gly1291Ser Uncertain significance Multiple submitters
- KANK1 p.Gly1301Asp Uncertain significance Multiple submitters
- KANK1 p.Gly760Asp Uncertain significance Multiple submitters
- KANK1 p.Ile1100Thr Uncertain significance Multiple submitters
- KANK1 p.Ile1316Val Uncertain significance Multiple submitters
- KANK1 p.Met267Thr Uncertain significance Multiple submitters
- KANK1 p.Pro509Leu Uncertain significance Multiple submitters
- KANK1 p.Thr157Arg Uncertain significance Multiple submitters
- KANK1 p.Val1150Phe Uncertain significance Multiple submitters
-
KANK1 p.Val286Glu
Likely benign
Multiple submitters
cerebral palsy, spastic quadriplegic, 2
- KANK1 p.Ala1203Thr Uncertain significance Single submitter
- KANK1 p.Ala1206Thr Uncertain significance Single submitter
- KANK1 p.Ala1207Asp Uncertain significance Single submitter
- KANK1 p.Ala1207Pro Uncertain significance Single submitter
- KANK1 p.Ala1207Val Uncertain significance Single submitter
- KANK1 p.Ala1311Val Uncertain significance Single submitter
- KANK1 p.Arg1112Thr Uncertain significance Single submitter
- KANK1 p.Arg1152Cys Uncertain significance Single submitter
- KANK1 p.Arg1215Trp Conflicting Single submitter
- KANK1 p.Arg183Ser Uncertain significance Single submitter
- KANK1 p.Arg273Cys Conflicting Single submitter
- KANK1 p.Arg67Trp Uncertain significance Single submitter
- KANK1 p.Arg734Gly Uncertain significance Single submitter
- KANK1 p.Asn1188Lys Uncertain significance Single submitter
- KANK1 p.Asn151Thr Uncertain significance Single submitter
- KANK1 p.Asn863Ile Uncertain significance Single submitter
- KANK1 p.Asp1138Glu Uncertain significance Single submitter
- KANK1 p.Asp1183Val Uncertain significance Single submitter
- KANK1 p.Asp50Gly Uncertain significance Single submitter
- KANK1 p.Asp632Gly Uncertain significance Single submitter
-
KANK1 p.Cys551Tyr
Conflicting
Single submitter
cerebral palsy, spastic quadriplegic, 2
-
KANK1 p.Gln1128Glu
Conflicting
Single submitter
cerebral palsy, spastic quadriplegic, 2
- KANK1 p.Gln1232Glu Uncertain significance Single submitter
- KANK1 p.Glu1035Lys Uncertain significance Single submitter
- KANK1 p.Glu1036Lys Conflicting Single submitter
- KANK1 p.Glu442Gly Uncertain significance Single submitter
- KANK1 p.Gly1294Asp Uncertain significance Single submitter
- KANK1 p.Gly327Ala Uncertain significance Single submitter
- KANK1 p.Gly539Glu Uncertain significance Single submitter
- KANK1 p.Gly629Arg Uncertain significance Single submitter
- KANK1 p.Gly631Glu Uncertain significance Single submitter
- KANK1 p.Gly760Arg Uncertain significance Single submitter
- KANK1 p.Leu1106Trp Uncertain significance Single submitter
- KANK1 p.Leu184Pro Uncertain significance Single submitter
- KANK1 p.Leu488Val Uncertain significance Single submitter
- KANK1 p.Leu833Gln Uncertain significance Single submitter
- KANK1 p.Leu994Phe Uncertain significance Single submitter
- KANK1 p.Lys1129Asn Uncertain significance Single submitter
- KANK1 p.Lys1229Gln Uncertain significance Single submitter
- KANK1 p.Lys1284Glu Uncertain significance Single submitter
- KANK1 p.Lys1340Asn Uncertain significance Single submitter
- KANK1 p.Lys272Thr Uncertain significance Single submitter
-
KANK1 p.Lys503Glu
Uncertain significance
Single submitter
cerebral palsy, spastic quadriplegic, 2
- KANK1 p.Met1214Arg Uncertain significance Single submitter
- KANK1 p.Met1249Ile Uncertain significance Single submitter
- KANK1 p.Met1249Leu Uncertain significance Single submitter
- KANK1 p.Met566Thr Uncertain significance Single submitter
- KANK1 p.Met978Ile Likely benign Single submitter
- KANK1 p.Pro1199Thr Uncertain significance Single submitter
- KANK1 p.Pro1290Ala Uncertain significance Single submitter
-
KANK1 p.Pro1290His
Conflicting
Single submitter
cerebral palsy, spastic quadriplegic, 2
- KANK1 p.Ser1017Cys Conflicting Single submitter
- KANK1 p.Ser1017Phe Uncertain significance Single submitter
- KANK1 p.Ser1017Tyr Conflicting Single submitter
- KANK1 p.Ser1018Tyr Uncertain significance Single submitter
- KANK1 p.Ser1231Asn Uncertain significance Single submitter
- KANK1 p.Ser237Arg Uncertain significance Single submitter
- KANK1 p.Ser400Tyr Uncertain significance Single submitter
- KANK1 p.Ser513Arg Uncertain significance Single submitter
- KANK1 p.Ser972Arg Uncertain significance Single submitter
- KANK1 p.Thr157Ile Uncertain significance Single submitter
- KANK1 p.Thr35Ala Conflicting Single submitter
- KANK1 p.Thr441Ile Uncertain significance Single submitter
- KANK1 p.Tyr1083His Uncertain significance Single submitter
- KANK1 p.Val1170Leu Uncertain significance Single submitter
- KANK1 p.Val1208Leu Uncertain significance Single submitter
- KANK1 p.Val1217Met Uncertain significance Single submitter
- KANK1 p.Val255Gly Uncertain significance Single submitter
-
KANK1 p.Glu484Val
Uncertain significance
No assertion criteria
KANK1-related disorder
All KANK1 variants
Likely pathogenic 1
- p.Ile1079Met Single submitter Abnormal brain morphology ⚠
Conflicting classifications of pathogenicity 62
- c.3334-3C>T Single submitter
- c.3554-5T>A Single submitter
- p.Ala646Thr Single submitter ⚠
- p.Ala654Asp Single submitter intellectual disability ⚠
- p.Ala660Val Single submitter ⚠
- p.Ala990Thr Single submitter cerebral palsy, spastic quadriplegic, 2 ⚠
- p.Arg1044Trp Single submitter cerebral palsy, spastic quadriplegic, 2 ⚠
- p.Arg1124His Single submitter
- p.Arg1215Trp Single submitter ⚠
- p.Arg273Cys Single submitter ⚠
- p.Arg483Gln Single submitter ⚠
- p.Arg580Gln Single submitter ⚠
- p.Arg626Gln Single submitter ⚠
- p.Arg648Gln Single submitter cerebral palsy, spastic quadriplegic, 2 ⚠
- p.Arg829Cys Single submitter ⚠
- p.Asn328Ser Single submitter ⚠
- p.Asn984Ile Single submitter ⚠
- p.Asp1023Gly Single submitter ⚠
- p.Asp1149His Single submitter ⚠
- p.Asp51Asn Single submitter
- p.Asp704Asn Single submitter ⚠
- p.Cys551Tyr Single submitter cerebral palsy, spastic quadriplegic, 2 ⚠
- p.Gln1128Glu Single submitter cerebral palsy, spastic quadriplegic, 2 ⚠
- p.Glu1036Lys Single submitter ⚠
- p.Glu1073Gln Single submitter ⚠
- p.Glu1176Gln Single submitter cerebral palsy, spastic quadriplegic, 2 ⚠
- p.Glu473Lys Single submitter ⚠
- p.Glu601Lys Single submitter ⚠
- p.Gly1162= Single submitter cerebral palsy, spastic quadriplegic, 2
- p.Gly1294Ser Single submitter cerebral palsy, spastic quadriplegic, 2 ⚠
- p.Gly896Arg Single submitter ⚠
- p.Ile1316= Single submitter
- p.Ile692Val Single submitter cerebral palsy, spastic quadriplegic, 2 ⚠
- p.Ile937Val Single submitter ⚠
- p.Leu152Ile Single submitter ⚠
- p.Lys101Arg Single submitter ⚠
- p.Lys423Asn Single submitter cerebral palsy, spastic quadriplegic, 2 ⚠
- p.Lys453Glu Single submitter ⚠
- p.Lys466Arg Single submitter ⚠
- p.Met235Thr Single submitter ⚠
- p.Phe32Ser Single submitter ⚠
- p.Pro1133Leu Single submitter
- p.Pro1290His Single submitter cerebral palsy, spastic quadriplegic, 2 ⚠
- p.Pro36Leu Single submitter ⚠
- p.Pro553Arg Single submitter ⚠
- p.Pro74Leu Single submitter ⚠
- p.Pro76Ser Single submitter cerebral palsy, spastic quadriplegic, 2 ⚠
- p.Ser1017Cys Single submitter ⚠
- p.Ser1017Tyr Single submitter ⚠
- p.Thr253Ser Single submitter ⚠
- p.Thr35Ala Single submitter ⚠
- p.Thr536Arg Single submitter ⚠
- p.Thr673Ser Single submitter ⚠
- p.Thr688Ser Single submitter ⚠
- p.Thr922Ile Single submitter ⚠
- p.Tyr1139Cys Single submitter ⚠
- p.Val1125Ala Single submitter ⚠
- p.Val1150Ile Single submitter ⚠
- p.Val501Ile Single submitter ⚠
- p.Val637Met Single submitter cerebral palsy, spastic quadriplegic, 2 ⚠
- p.Val639Ile Single submitter ⚠
- p.Val662Ile Single submitter ⚠
Benign 85
- c.2699-79G>A Multiple submitters
- c.2699-83A>C Multiple submitters
- c.2896+212G>A Multiple submitters
- c.2896+225T>G Multiple submitters
- c.2896+242G>A Multiple submitters
- c.2896+90T>C Multiple submitters
- c.2897-341G>A Multiple submitters
- c.3005+154G>T Multiple submitters
- c.3005+66A>G Multiple submitters
- c.3006-159C>G Multiple submitters
- c.3006-162C>T Multiple submitters
- c.3006-323G>A Multiple submitters
- c.3006-76T>C Multiple submitters
- c.3245+113C>G Multiple submitters
- c.3245+162A>G Multiple submitters
- c.3245+275G>C Multiple submitters
- c.3245+283T>C Multiple submitters
- c.3245+87T>A Multiple submitters
- c.3246-103G>A Multiple submitters
- c.3246-69G>T Multiple submitters
- c.3333+19C>G Multiple submitters
- c.3333+4A>C Multiple submitters
- c.3334-47G>A Multiple submitters
- c.3553+5G>A Multiple submitters
- c.3554-200G>C Multiple submitters
- c.3554-31C>G Multiple submitters
- c.3696+38G>C Multiple submitters
- c.3696+67T>C Multiple submitters
- c.3696+83A>G Multiple submitters
- c.37+132A>G Multiple submitters
- c.37+80G>A Multiple submitters
- c.3898-73T>C Multiple submitters
- c.3996+148G>A Multiple submitters
- c.3997-135T>A Multiple submitters
- c.3997-17C>G Multiple submitters
- c.-19T>C Multiple submitters
- c.-83-145A>G Multiple submitters
- c.-83-149A>G Multiple submitters
- c.-83-186T>C Multiple submitters
- c.-83-198T>C Multiple submitters
- c.-83-70A>G Multiple submitters
- c.*178A>G Multiple submitters
- c.*54C>T Multiple submitters
- p.Asn611= Multiple submitters
- p.Glu432Gln Multiple submitters
- p.Gly1278= Multiple submitters
- p.Ile1055Thr Multiple submitters
- p.Leu457= Multiple submitters
- p.Phe1221= Multiple submitters
- p.Ser198Phe Multiple submitters
- p.Ser464Ala Multiple submitters
- c.2698+112A>T Single submitter
- c.2698+304T>A Single submitter
- c.2699-270_2699-269insG Single submitter
- c.2699-293G>A Single submitter
- c.2699-85_2699-84del Single submitter
- c.3006-12A>G Single submitter
- c.3246-73dup Single submitter
- c.3333+254G>A Single submitter
- c.3334-230T>C Single submitter
- c.3554-320G>A Single submitter
- c.3554-9_3554-5del Single submitter cerebral palsy, spastic quadriplegic, 2
- c.3696+107T>G Single submitter
- c.3696+127C>T Single submitter
- c.3696+150C>T Single submitter
- c.3696+253T>C Single submitter
- c.3696+290C>G Single submitter
- c.3696+314del Single submitter
- c.38-164_38-162del Single submitter
- c.38-164_38-163del Single submitter
- c.38-164C>A Single submitter
- c.38-164del Single submitter
- c.38-174_38-163del Single submitter
- c.38-174_38-164del Single submitter
- c.38-174C>A Single submitter
- c.38-174del Single submitter
- c.38-2535T>G Single submitter
- c.3897+237T>G Single submitter
- c.3898-246dup Single submitter
- c.3898-267del Single submitter
- c.-83-319T>C Single submitter
- c.-83-321C>T Single submitter
- c.-83-53_-83-52insG Single submitter
- p.Ala2fs No assertion criteria Abnormality of neuronal migration
- p.Ser1331Cys No assertion criteria Abnormality of neuronal migration
Benign/Likely benign 42
- c.2896+18C>T Multiple submitters
- c.3005+9A>T Multiple submitters cerebral palsy, spastic quadriplegic, 2
- c.3245+12T>C Multiple submitters cerebral palsy, spastic quadriplegic, 2
- c.3554-10_3554-5del Multiple submitters
- c.3554-11_3554-5del Multiple submitters
- c.3554-4dup Multiple submitters
- c.3696+4A>G Multiple submitters
- p.Ala1203= Multiple submitters
- p.Ala1206= Multiple submitters cerebral palsy, spastic quadriplegic, 2
- p.Ala1304= Multiple submitters cerebral palsy, spastic quadriplegic, 2
- p.Ala208= Multiple submitters cerebral palsy, spastic quadriplegic, 2
- p.Ala268= Multiple submitters cerebral palsy, spastic quadriplegic, 2
- p.Ala426_Val427dup Multiple submitters
- p.Ala451= Multiple submitters
- p.Ala664Val Multiple submitters
- p.Arg1080= Multiple submitters
- p.Arg1124= Multiple submitters
- p.Arg434= Multiple submitters
- p.Arg667His Multiple submitters
- p.Arg67Gln Multiple submitters
- p.Asn1161= Multiple submitters
- p.Asn151= Multiple submitters cerebral palsy, spastic quadriplegic, 2
- p.Asn901Ser Multiple submitters
- p.Asp1159= Multiple submitters
- p.Asp50Val Multiple submitters amyotrophic lateral sclerosis
- p.Asp636= Multiple submitters
- p.Cys909Gly Multiple submitters
- p.Gln459= Multiple submitters cerebral palsy, spastic quadriplegic, 2
- p.Gln657= Multiple submitters
- p.Glu587Gly Multiple submitters
- p.Glu847= Multiple submitters
- p.Gly189Ser Multiple submitters
- p.His210Gln Multiple submitters
- p.Ile1216Thr Multiple submitters
- p.Ile18Val Multiple submitters
- p.Lys65= Multiple submitters
- p.Pro1290= Multiple submitters cerebral palsy, spastic quadriplegic, 2
- p.Pro176= Multiple submitters
- p.Pro69Leu Multiple submitters
- p.Ser1275= Multiple submitters
- p.Thr116Ala Multiple submitters
- p.Thr882= Multiple submitters cerebral palsy, spastic quadriplegic, 2
Likely benign 315
Showing the top 300 by review status; the full set is in the sitemap.
- c.2699-85T>C Multiple submitters
- c.3005+134G>A Multiple submitters
- c.3005+83C>T Multiple submitters
- c.3245+9C>T Multiple submitters cerebral palsy, spastic quadriplegic, 2
- c.3554-5_3554-4insTA Multiple submitters cerebral palsy, spastic quadriplegic, 2
- c.3554-5del Multiple submitters
- c.3696+8C>T Multiple submitters cerebral palsy, spastic quadriplegic, 2
- c.3898-7_3898-3del Multiple submitters
- c.3996+10G>A Multiple submitters
- c.3996+34C>T Multiple submitters
- c.-83-244A>G Multiple submitters
- c.*195G>A Multiple submitters
- p.Ala1233= Multiple submitters
- p.Ala1241= Multiple submitters
- p.Ala1258Ser Multiple submitters
- p.Ala405= Multiple submitters
- p.Ala942Asp Multiple submitters
- p.Arg273= Multiple submitters
- p.Arg337= Multiple submitters cerebral palsy, spastic quadriplegic, 2
- p.Arg368Gln Multiple submitters cerebral palsy, spastic quadriplegic, 2
- p.Arg399Gln Multiple submitters cerebral palsy, spastic quadriplegic, 2
- p.Arg734= Multiple submitters cerebral palsy, spastic quadriplegic, 2
- p.Asn1293Ser Multiple submitters
- p.Asn697= Multiple submitters cerebral palsy, spastic quadriplegic, 2
- p.Asp1248= Multiple submitters cerebral palsy, spastic quadriplegic, 2
- p.Asp1265= Multiple submitters
- p.Gln211His Multiple submitters
- p.Gln261= Multiple submitters cerebral palsy, spastic quadriplegic, 2
- p.Gln40= Multiple submitters
- p.Glu1276= Multiple submitters
- p.Gly1162Ser Multiple submitters
- p.Gly188= Multiple submitters cerebral palsy, spastic quadriplegic, 2
- p.Gly789= Multiple submitters
- p.His1120= Multiple submitters
- p.His1277= Multiple submitters
- p.His3= Multiple submitters cerebral palsy, spastic quadriplegic, 2
- p.His578Tyr Multiple submitters
- p.Ile412= Multiple submitters
- p.Leu1058= Multiple submitters
- p.Leu848= Multiple submitters cerebral palsy, spastic quadriplegic, 2
- p.Lys617= Multiple submitters
- p.Lys705Glu Multiple submitters
- p.Lys832Asn Multiple submitters
- p.Met506Thr Multiple submitters
- p.Met663Thr Multiple submitters
- p.Phe187= Multiple submitters cerebral palsy, spastic quadriplegic, 2
- p.Phe852= Multiple submitters cerebral palsy, spastic quadriplegic, 2
- p.Pro888Ala Multiple submitters
- p.Ser1019= Multiple submitters cerebral palsy, spastic quadriplegic, 2
- p.Ser421= Multiple submitters
- p.Ser439= Multiple submitters
- p.Ser497= Multiple submitters cerebral palsy, spastic quadriplegic, 2
- p.Ser872Cys Multiple submitters
- p.Ser88= Multiple submitters
- p.Thr1269= Multiple submitters cerebral palsy, spastic quadriplegic, 2
- p.Thr250= Multiple submitters
- p.Thr429= Multiple submitters cerebral palsy, spastic quadriplegic, 2
- p.Thr688= Multiple submitters cerebral palsy, spastic quadriplegic, 2
- p.Thr949= Multiple submitters cerebral palsy, spastic quadriplegic, 2
- p.Tyr31= Multiple submitters cerebral palsy, spastic quadriplegic, 2
- p.Val286Glu Multiple submitters cerebral palsy, spastic quadriplegic, 2 ⚠
- p.Val302= Multiple submitters
- p.Val413= Multiple submitters
- p.Val511= Multiple submitters cerebral palsy, spastic quadriplegic, 2
- p.Val534Met Multiple submitters cerebral palsy, spastic quadriplegic, 2
- c.2698+11C>T Single submitter
- c.2698+13C>T Single submitter
- c.2698+14T>C Single submitter
- c.2698+7G>A Single submitter
- c.2699-5G>C Single submitter
- c.2699-6T>C Single submitter
- c.2896+12C>G Single submitter
- c.2896+13A>C Single submitter
- c.2896+89T>C Single submitter
- c.2896+8T>A Single submitter
- c.2897-13_2897-9del Single submitter
- c.2897-16C>G Single submitter
- c.3005+9A>G Single submitter
- c.3006-13A>C Single submitter
- c.3006-14C>G Single submitter
- c.3006-16C>G Single submitter
- c.3006-16C>T Single submitter
- c.3006-9_3006-5del Single submitter
- c.3245+15C>T Single submitter
- c.3245+16_3245+21del Single submitter
- c.3245+18T>A Single submitter
- c.3246-126T>C Single submitter
- c.3246-133A>G Single submitter
- c.3246-13T>A Single submitter
- c.3246-13T>C Single submitter
- c.3333+17A>G Single submitter
- c.3333+914T>A Single submitter
- c.3333+915T>G Single submitter
- c.3333+921G>A Single submitter
- c.3334-13G>T Single submitter
- c.3334-35A>G Single submitter
- c.3553+11T>C Single submitter
- c.3553+133A>G Single submitter
- c.3553+14C>T Single submitter
- c.3553+20A>G Single submitter
- c.3553+8G>C Single submitter
- c.3554-7_3554-5del Single submitter
- c.3697-10C>A Single submitter
- c.3697-10C>G Single submitter
- c.3697-17G>C Single submitter
- c.3697-20C>G Single submitter
- c.3697-7C>T Single submitter
- c.3697-86C>T Single submitter
- c.37+11G>C Single submitter
- c.37+202C>G Single submitter
- c.37+9G>C Single submitter
- c.38-151C>T Single submitter
- c.38-16T>G Single submitter
- c.38-178A>C Single submitter
- c.38-3361G>A Single submitter
- c.3897+15T>C Single submitter
- c.3897+19G>A Single submitter
- c.3897+84G>C Single submitter
- c.3898-16T>C Single submitter
- c.3996+12G>A Single submitter
- c.3996+15T>C Single submitter
- c.3996+42C>T Single submitter
- c.3996+63T>C Single submitter
- c.3997-16C>T Single submitter
- c.3997-19T>C Single submitter
- p.Ala1092= Single submitter
- p.Ala1230= Single submitter
- p.Ala1241Val Single submitter
- p.Ala311= Single submitter
- p.Ala326= Single submitter
- p.Ala582Pro Single submitter
- p.Ala792= Single submitter
- p.Ala849= Single submitter
- p.Ala880= Single submitter
- p.Ala961= Single submitter
- p.Ala966Val Single submitter
- p.Ala990= Single submitter
- p.Arg1124Cys Single submitter
- p.Arg1215Gln Single submitter
- p.Arg138Gln Single submitter
- p.Arg183= Single submitter
- p.Arg264= Single submitter
- p.Arg282Gln Single submitter
- p.Arg368Trp Single submitter
- p.Arg420= Single submitter
- p.Arg471= Single submitter
- p.Arg580Leu Single submitter
- p.Asn1054= Single submitter
- p.Asn1227= Single submitter
- p.Asn1293= Single submitter
- p.Asn206Ser Single submitter
- p.Asn219= Single submitter
- p.Asn254= Single submitter
- p.Asn328= Single submitter
- p.Asn56= Single submitter
- p.Asn767= Single submitter
- p.Asn8= Single submitter
- p.Asn96= Single submitter
- p.Asn988Ser Single submitter
- p.Asp1040Glu Single submitter
- p.Asp1190= Single submitter
- p.Asp1352= Single submitter
- p.Asp22= Single submitter
- p.Asp373= Single submitter
- p.Asp726= Single submitter
- p.Asp802= Single submitter
- p.Cys600= Single submitter
- p.Cys640= Single submitter
- p.Cys645= Single submitter
- p.Cys73= Single submitter
- p.Gln167= Single submitter
- p.Gln27= Single submitter
- p.Gln375His Single submitter
- p.Gln552Arg Single submitter
- p.Gln682= Single submitter
- p.Gln837_Glu843del Single submitter
- p.Glu1020= Single submitter
- p.Glu1024Lys Single submitter
- p.Glu1034= Single submitter
- p.Glu1039del Single submitter
- p.Glu1039dup Single submitter
- p.Glu1041= Single submitter
- p.Glu1081= Single submitter
- p.Glu126Ala Single submitter
- p.Glu394= Single submitter
- p.Glu406= Single submitter
- p.Glu473= Single submitter
- p.Glu607= Single submitter
- p.Glu721= Single submitter
- p.Gly1224= Single submitter
- p.Gly1257= Single submitter
- p.Gly201= Single submitter
- p.Gly342= Single submitter
- p.Gly539= Single submitter
- p.Gly649= Single submitter
- p.Gly720= Single submitter
- p.Gly722= Single submitter
- p.Gly744= Single submitter
- p.Gly747= Single submitter
- p.Gly853Arg Single submitter
- p.Gly989= Single submitter
- p.Gly9Ser Single submitter
- p.His1279= Single submitter
- p.His1295= Single submitter
- p.His3Tyr Single submitter
- p.Ile1216= Single submitter
- p.Ile960= Single submitter
- p.Leu1032= Single submitter
- p.Leu1090= Single submitter
- p.Leu1118= Single submitter
- p.Leu1205= Single submitter
- p.Leu1253= Single submitter
- p.Leu1285= Single submitter
- p.Leu1319Ile Single submitter
- p.Leu260= Single submitter
- p.Leu274= Single submitter
- p.Leu377= Single submitter
- p.Leu41= Single submitter
- p.Leu46= Single submitter
- p.Leu465= Single submitter
- p.Leu472= Single submitter
- p.Leu476= Single submitter
- p.Leu613= Single submitter
- p.Leu700= Single submitter
- p.Leu840= Single submitter
- p.Leu866= Single submitter
- p.Leu92= Single submitter
- p.Leu950= Single submitter
- p.Lys1059= Single submitter
- p.Lys156= Single submitter
- p.Lys499= Single submitter
- p.Lys54= Single submitter
- p.Lys68= Single submitter
- p.Lys6Glu Single submitter
- p.Lys755= Single submitter
- p.Lys981= Single submitter
- p.Lys992= Single submitter
- p.Met1067Ile Single submitter
- p.Met190Thr Single submitter
- p.Met978Ile Single submitter ⚠
- p.Phe1326= Single submitter
- p.Pro1148= Single submitter
- p.Pro124Ala Single submitter
- p.Pro509= Single submitter
- p.Pro553= Single submitter
- p.Pro642= Single submitter
- p.Pro69= Single submitter
- p.Pro72= Single submitter
- p.Pro751= Single submitter
- p.Pro944= Single submitter
- p.Ser1147= Single submitter
- p.Ser1171= Single submitter
- p.Ser1302= Single submitter
- p.Ser237= Single submitter
- p.Ser323= Single submitter
- p.Ser384= Single submitter
- p.Ser389Phe Single submitter
- p.Ser390= Single submitter
- p.Ser541= Single submitter
- p.Ser594= Single submitter
- p.Ser694= Single submitter
- p.Ser70= Single submitter
- p.Ser743= Single submitter
- p.Ser752Leu Single submitter
- p.Ser861Phe Single submitter
- p.Ser868= Single submitter
- p.Ser871= Single submitter
- p.Ser920= Single submitter
- p.Ser923= Single submitter
- p.Ser939= Single submitter
- p.Ser939Asn Single submitter
- p.Ser976= Single submitter
- p.Thr1236= Single submitter
- p.Thr1341= Single submitter
- p.Thr361= Single submitter
- p.Thr479= Single submitter
- p.Thr505= Single submitter
- p.Thr536= Single submitter
- p.Thr57= Single submitter
- p.Thr614= Single submitter
- p.Thr686= Single submitter
- p.Thr714= Single submitter
- p.Thr731= Single submitter
- p.Thr733= Single submitter
- p.Thr733Arg Single submitter
- p.Thr740= Single submitter
- p.Thr756= Single submitter
- p.Thr791= Single submitter
- p.Thr869= Single submitter
- p.Thr931= Single submitter
- p.Thr973= Single submitter
- p.Tyr826His Single submitter
- p.Tyr905= Single submitter
- p.Val1170= Single submitter
- p.Val1208Met Single submitter
- p.Val1260= Single submitter
- p.Val357Ala Single submitter
- p.Val414= Single submitter
- p.Val520Met Single submitter
- p.Val527= Single submitter
Uncertain significance 624
Showing the top 300 by review status; the full set is in the sitemap.
- c.2896+2T>G Multiple submitters cerebral palsy, spastic quadriplegic, 2
- c.3554_3556dup Multiple submitters KANK1-related disorder
- p.Ala109Thr Multiple submitters ⚠
- p.Ala1184= Multiple submitters cerebral palsy, spastic quadriplegic, 2
- p.Ala1203Val Multiple submitters cerebral palsy, spastic quadriplegic, 2 ⚠
- p.Ala1237fs Multiple submitters cerebral palsy, spastic quadriplegic, 2
- p.Ala1255Asp Multiple submitters cerebral palsy, spastic quadriplegic, 2 ⚠
- p.Ala228Gly Multiple submitters cerebral palsy, spastic quadriplegic, 2 ⚠
- p.Ala718Gly Multiple submitters cerebral palsy, spastic quadriplegic, 2 ⚠
- p.Ala961Thr Multiple submitters ⚠
- p.Arg1044Gln Multiple submitters ⚠
- p.Arg1348Gln Multiple submitters ⚠
- p.Arg264Cys Multiple submitters ⚠
- p.Arg273His Multiple submitters ⚠
- p.Arg337Gln Multiple submitters ⚠
- p.Arg337Trp Multiple submitters ⚠
- p.Arg420Ser Multiple submitters cerebral palsy, spastic quadriplegic, 2 ⚠
- p.Arg471His Multiple submitters cerebral palsy, spastic quadriplegic, 2 ⚠
- p.Arg66Gly Multiple submitters ⚠
- p.Arg715Trp Multiple submitters cerebral palsy, spastic quadriplegic, 2
- p.Arg723His Multiple submitters ⚠
- p.Arg829His Multiple submitters ⚠
- p.Asn100Asp Multiple submitters ⚠
- p.Asn1094Ser Multiple submitters cerebral palsy, spastic quadriplegic, 2 ⚠
- p.Asn1156Ser Multiple submitters
- p.Asn1325Ser Multiple submitters ⚠
- p.Asn328Lys Multiple submitters ⚠
- p.Asn874Ser Multiple submitters ⚠
- p.Asn96Ser Multiple submitters ⚠
- p.Asn970fs Multiple submitters
- p.Asp1023Asn Multiple submitters ⚠
- p.Asp50Tyr Multiple submitters cerebral palsy, spastic quadriplegic, 2
- p.Asp579Asn Multiple submitters ⚠
- p.Asp612Asn Multiple submitters ⚠
- p.Cys1072fs Multiple submitters cerebral palsy, spastic quadriplegic, 2
- p.Cys600Ser Multiple submitters ⚠
- p.Cys781Ser Multiple submitters cerebral palsy, spastic quadriplegic, 2 ⚠
- p.Gln112Pro Multiple submitters cerebral palsy, spastic quadriplegic, 2 ⚠
- p.Gln1289His Multiple submitters ⚠
- p.Gln362His Multiple submitters cerebral palsy, spastic quadriplegic, 2 ⚠
- p.Gln490fs Multiple submitters
- p.Gln53Lys Multiple submitters ⚠
- p.Gln706His Multiple submitters KANK1-related disorder ⚠
- p.Glu1020Lys Multiple submitters ⚠
- p.Glu1071Asp Multiple submitters ⚠
- p.Glu1209Lys Multiple submitters ⚠
- p.Glu1281Gly Multiple submitters cerebral palsy, spastic quadriplegic, 2 ⚠
- p.Glu265Lys Multiple submitters ⚠
- p.Glu406Lys Multiple submitters cerebral palsy, spastic quadriplegic, 2 ⚠
- p.Glu608del Multiple submitters cerebral palsy, spastic quadriplegic, 2
- p.Glu624Gln Multiple submitters ⚠
- p.Glu687Lys Multiple submitters ⚠
- p.Glu687Ter Multiple submitters
- p.Glu693Lys Multiple submitters cerebral palsy, spastic quadriplegic, 2 ⚠
- p.Gly1245Arg Multiple submitters cerebral palsy, spastic quadriplegic, 2 ⚠
- p.Gly1278Arg Multiple submitters cerebral palsy, spastic quadriplegic, 2 ⚠
- p.Gly1291Ser Multiple submitters ⚠
- p.Gly1301Asp Multiple submitters ⚠
- p.Gly16Arg Multiple submitters cerebral palsy, spastic quadriplegic, 2 ⚠
- p.Gly203Arg Multiple submitters ⚠
- p.Gly343Arg Multiple submitters ⚠
- p.Gly428Glu Multiple submitters ⚠
- p.Gly528Ser Multiple submitters ⚠
- p.Gly548Ser Multiple submitters ⚠
- p.Gly747Arg Multiple submitters ⚠
- p.Gly760Asp Multiple submitters ⚠
- p.Gly789Val Multiple submitters cerebral palsy, spastic quadriplegic, 2 ⚠
- p.Gly822Ala Multiple submitters ⚠
- p.His825Arg Multiple submitters cerebral palsy, spastic quadriplegic, 2 ⚠
- p.Ile1079Asn Multiple submitters ⚠
- p.Ile1100Thr Multiple submitters ⚠
- p.Ile1100Val Multiple submitters ⚠
- p.Ile1140Leu Multiple submitters ⚠
- p.Ile1247Met Multiple submitters ⚠
- p.Ile1316Val Multiple submitters ⚠
- p.Ile628Val Multiple submitters cerebral palsy, spastic quadriplegic, 2 ⚠
- p.Ile85Met Multiple submitters cerebral palsy, spastic quadriplegic, 2 ⚠
- p.Ile977Val Multiple submitters cerebral palsy, spastic quadriplegic, 2 ⚠
- p.Leu895Met Multiple submitters cerebral palsy, spastic quadriplegic, 2 ⚠
- p.Lys1212del Multiple submitters cerebral palsy, spastic quadriplegic, 2
- p.Lys156Glu Multiple submitters cerebral palsy, spastic quadriplegic, 2 ⚠
- p.Lys623Arg Multiple submitters ⚠
- p.Met1046Thr Multiple submitters cerebral palsy, spastic quadriplegic, 2 ⚠
- p.Met267Thr Multiple submitters ⚠
- p.Met409Val Multiple submitters cerebral palsy, spastic quadriplegic, 2 ⚠
- p.Met577Arg Multiple submitters ⚠
- p.Phe1143Ser Multiple submitters ⚠
- p.Phe512Ser Multiple submitters ⚠
- p.Pro104Leu Multiple submitters ⚠
- p.Pro1332= Multiple submitters cerebral palsy, spastic quadriplegic, 2
- p.Pro1332Ala Multiple submitters ⚠
- p.Pro1332Leu Multiple submitters cerebral palsy, spastic quadriplegic, 2 ⚠
- p.Pro145Ser Multiple submitters cerebral palsy, spastic quadriplegic, 2 ⚠
- p.Pro176Ser Multiple submitters ⚠
- p.Pro30Ser Multiple submitters ⚠
- p.Pro509Leu Multiple submitters ⚠
- p.Pro666Leu Multiple submitters cerebral palsy, spastic quadriplegic, 2 ⚠
- p.Pro74Arg Multiple submitters ⚠
- p.Pro784Arg Multiple submitters cerebral palsy, spastic quadriplegic, 2 ⚠
- p.Pro816Leu Multiple submitters ⚠
- p.Pro888Arg Multiple submitters ⚠
- p.Ser1007Ter Multiple submitters
- p.Ser1169Thr Multiple submitters
- p.Ser119Ter Multiple submitters
- p.Ser198del Multiple submitters cerebral palsy, spastic quadriplegic, 2
- p.Ser389Ala Multiple submitters ⚠
- p.Ser604Asn Multiple submitters cerebral palsy, spastic quadriplegic, 2 ⚠
- p.Ser674Gly Multiple submitters cerebral palsy, spastic quadriplegic, 2 ⚠
- p.Ser875Cys Multiple submitters ⚠
- p.Ser879Pro Multiple submitters ⚠
- p.Ser914Leu Multiple submitters ⚠
- p.Ser97Thr Multiple submitters ⚠
- p.Thr127Ile Multiple submitters ⚠
- p.Thr157Arg Multiple submitters ⚠
- p.Thr505Arg Multiple submitters ⚠
- p.Thr536Lys Multiple submitters cerebral palsy, spastic quadriplegic, 2 ⚠
- p.Thr536Met Multiple submitters ⚠
- p.Thr688Met Multiple submitters cerebral palsy, spastic quadriplegic, 2 ⚠
- p.Thr893Asn Multiple submitters ⚠
- p.Thr949Ala Multiple submitters ⚠
- p.Tyr324Ter Multiple submitters cerebral palsy, spastic quadriplegic, 2
- p.Tyr346Ter Multiple submitters
- p.Tyr965Cys Multiple submitters ⚠
- p.Val1150Phe Multiple submitters ⚠
- p.Val357Leu Multiple submitters cerebral palsy, spastic quadriplegic, 2 ⚠
- p.Val542Met Multiple submitters cerebral palsy, spastic quadriplegic, 2 ⚠
- p.Val560Ile Multiple submitters ⚠
- p.Val575Met Multiple submitters cerebral palsy, spastic quadriplegic, 2 ⚠
- p.Val71Met Multiple submitters ⚠
- p.Val754Gly Multiple submitters cerebral palsy, spastic quadriplegic, 2 ⚠
- p.Val797Met Multiple submitters cerebral palsy, spastic quadriplegic, 2 ⚠
- c.2896+6T>G Single submitter
- c.2897-1G>C Single submitter
- c.3333+1G>A Single submitter cerebral palsy, spastic quadriplegic, 2
- c.3333+3G>A Single submitter
- c.3333+3G>T Single submitter
- c.38-2A>T Single submitter
- c.3897+1G>A Single submitter
- c.3897+6C>T Single submitter
- p.Ala1061Gly Single submitter ⚠
- p.Ala1061Val Single submitter ⚠
- p.Ala1131Pro Single submitter ⚠
- p.Ala1141Gly Single submitter ⚠
- p.Ala1158Thr Single submitter
- p.Ala1165Thr Single submitter ⚠
- p.Ala1203Thr Single submitter ⚠
- p.Ala1204Val Single submitter ⚠
- p.Ala1206Thr Single submitter ⚠
- p.Ala1207Asp Single submitter ⚠
- p.Ala1207Pro Single submitter ⚠
- p.Ala1207Val Single submitter ⚠
- p.Ala1230Gly Single submitter ⚠
- p.Ala1230Thr Single submitter ⚠
- p.Ala1237Val Single submitter ⚠
- p.Ala1255Val Single submitter ⚠
- p.Ala1274Gly Single submitter ⚠
- p.Ala1304Val Single submitter ⚠
- p.Ala1308Thr Single submitter ⚠
- p.Ala1308Val Single submitter ⚠
- p.Ala1311Thr Single submitter ⚠
- p.Ala1311Val Single submitter ⚠
- p.Ala1317Ser Single submitter
- p.Ala1327Val Single submitter ⚠
- p.Ala15Glu Single submitter ⚠
- p.Ala208Gly Single submitter ⚠
- p.Ala226Thr Single submitter ⚠
- p.Ala226Val Single submitter ⚠
- p.Ala228Val Single submitter ⚠
- p.Ala229Thr Single submitter ⚠
- p.Ala326Gly Single submitter ⚠
- p.Ala326Val Single submitter ⚠
- p.Ala329Thr Single submitter ⚠
- p.Ala402Val Single submitter ⚠
- p.Ala425Thr Single submitter ⚠
- p.Ala426Gly Single submitter ⚠
- p.Ala426Val Single submitter ⚠
- p.Ala495Thr Single submitter ⚠
- p.Ala753Gly Single submitter ⚠
- p.Ala792Thr Single submitter ⚠
- p.Ala942Gly Single submitter ⚠
- p.Ala962Ser Single submitter ⚠
- p.Ala962Thr Single submitter ⚠
- p.Ala962Val Single submitter cerebral palsy, spastic quadriplegic, 2 ⚠
- p.Arg1080fs Single submitter
- p.Arg1082fs Single submitter
- p.Arg1082Lys Single submitter ⚠
- p.Arg1112Thr Single submitter ⚠
- p.Arg1152Cys Single submitter ⚠
- p.Arg1246Gln Single submitter ⚠
- p.Arg1246Trp Single submitter ⚠
- p.Arg138Ter Single submitter
- p.Arg162Gln Single submitter ⚠
- p.Arg169Thr Single submitter ⚠
- p.Arg183Ser Single submitter ⚠
- p.Arg322Gln Single submitter ⚠
- p.Arg340Ser Single submitter ⚠
- p.Arg393Lys Single submitter ⚠
- p.Arg393Ser Single submitter ⚠
- p.Arg399Trp Single submitter ⚠
- p.Arg417Lys Single submitter ⚠
- p.Arg434Lys Single submitter ⚠
- p.Arg471Cys Single submitter ⚠
- p.Arg471Leu Single submitter ⚠
- p.Arg483Trp Single submitter ⚠
- p.Arg523Gly Single submitter ⚠
- p.Arg523Ser Single submitter
- p.Arg574Thr Single submitter ⚠
- p.Arg66Lys Single submitter ⚠
- p.Arg67Trp Single submitter ⚠
- p.Arg715Gln Single submitter ⚠
- p.Arg734Gln Single submitter ⚠
- p.Arg734Gly Single submitter ⚠
- p.Arg734Trp Single submitter
- p.Arg886Thr Single submitter ⚠
- p.Asn100del Single submitter
- p.Asn1054Ile Single submitter ⚠
- p.Asn1054Thr Single submitter ⚠
- p.Asn105Asp Single submitter ⚠
- p.Asn1094Thr Single submitter ⚠
- p.Asn1098His Single submitter ⚠
- p.Asn1188Lys Single submitter ⚠
- p.Asn1193His Single submitter ⚠
- p.Asn1299= Single submitter
- p.Asn151Thr Single submitter ⚠
- p.Asn204Lys Single submitter ⚠
- p.Asn307fs Single submitter
- p.Asn435Ser Single submitter ⚠
- p.Asn545Asp Single submitter ⚠
- p.Asn567His Single submitter ⚠
- p.Asn605Asp Single submitter
- p.Asn651Thr Single submitter ⚠
- p.Asn697Ser Single submitter ⚠
- p.Asn728Ser Single submitter ⚠
- p.Asn769Ser Single submitter ⚠
- p.Asn863Ile Single submitter ⚠
- p.Asn874Thr Single submitter ⚠
- p.Asn8Asp Single submitter ⚠
- p.Asn901Arg Single submitter
- p.Asn901Ile Single submitter ⚠
- p.Asn984Lys Single submitter ⚠
- p.Asn993Ser Single submitter ⚠
- p.Asp1022Asn Single submitter ⚠
- p.Asp1102Asn Single submitter ⚠
- p.Asp1138Glu Single submitter ⚠
- p.Asp1138Tyr Single submitter ⚠
- p.Asp1149Gly Single submitter ⚠
- p.Asp1149Tyr Single submitter ⚠
- p.Asp1159Glu Single submitter ⚠
- p.Asp1183Val Single submitter ⚠
- p.Asp1213Asn Single submitter
- p.Asp1259del Single submitter
- p.Asp383Asn Single submitter ⚠
- p.Asp383His Single submitter ⚠
- p.Asp411Asn Single submitter ⚠
- p.Asp411Glu Single submitter ⚠
- p.Asp42Asn Single submitter ⚠
- p.Asp452Glu Single submitter ⚠
- p.Asp50Gly Single submitter ⚠
- p.Asp632Gly Single submitter ⚠
- p.Asp672Asn Single submitter ⚠
- p.Asp676Tyr Single submitter ⚠
- p.Asp726Asn Single submitter ⚠
- p.Asp749Asn Single submitter ⚠
- p.Asp824Gly Single submitter ⚠
- p.Asp941Tyr Single submitter ⚠
- p.Asp941Val Single submitter ⚠
- p.Asp958Asn Single submitter ⚠
- p.Asp986Tyr Single submitter ⚠
- p.Cys386Tyr Single submitter ⚠
- p.Cys555Arg Single submitter ⚠
- p.Cys555Trp Single submitter ⚠
- p.Cys589Arg Single submitter ⚠
- p.Gln1068His Single submitter ⚠
- p.Gln1068Ter Single submitter
- p.Gln1192Glu Single submitter ⚠
- p.Gln1232Glu Single submitter ⚠
- p.Gln1330His Single submitter ⚠
- p.Gln139His Single submitter ⚠
- p.Gln211_Leu212delinsHisIle Single submitter
- p.Gln211Lys Single submitter ⚠
- p.Gln213Arg Single submitter ⚠
- p.Gln23Arg Single submitter ⚠
- p.Gln23Glu Single submitter ⚠
- p.Gln261His Single submitter ⚠
- p.Gln313His Single submitter ⚠
- p.Gln331fs Single submitter cerebral palsy, spastic quadriplegic, 2
- p.Gln334His Single submitter ⚠
- p.Gln490Glu Single submitter ⚠
- p.Gln525Lys Single submitter ⚠
- p.Gln552His Single submitter ⚠
- p.Gln64Arg Single submitter ⚠
- p.Gln64Ter Single submitter
- p.Gln763Pro Single submitter ⚠
- p.Gln812Pro Single submitter ⚠
- p.Gln814Pro Single submitter ⚠
- p.Gln838Arg Single submitter
- p.Gln921Glu Single submitter ⚠
- p.Gln924His Single submitter ⚠
- p.Glu1015fs Single submitter
- p.Glu1033Gln Single submitter ⚠