CNTNAP3B — 330 ClinVar variants

All ClinVar germline CNTNAP3B variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 282 flagged for review →

3 Benign · 25 Likely benign · 302 Uncertain significance

Full CNTNAP3B gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 282

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 lean, ClinVar uncertain 243

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 243

Predictors split 39

The independent predictors disagree with each other — read with care.

All CNTNAP3B variants

Benign 3

p.Val456= Multiple submitters
c.742+3dup Single submitter
p.Leu615fs Single submitter

Likely benign 25

p.Ala1160Val Single submitter
p.Ala1208Val Single submitter
p.Arg414His Single submitter
p.Arg970His Single submitter
p.Asn441Asp Single submitter
p.Asp281Asn Single submitter
p.Asp777Ala Single submitter
p.Glu1022Lys Single submitter
p.Glu561Ala Single submitter
p.Glu775Lys Single submitter
p.Gly248Asp Single submitter
p.Gly496Asp Single submitter
p.Gly512= Single submitter
p.Gly664= Single submitter
p.Pro638Ser Single submitter
p.Ser33Ala Single submitter
p.Ser361Thr Single submitter
p.Ser416= Single submitter
p.Ser438Pro Single submitter
p.Ser48= Single submitter
p.Thr1092Ala Single submitter
p.Thr710= Single submitter
p.Val1230Ala Single submitter
p.Val259= Single submitter
p.Val343Ile Single submitter

Uncertain significance 302

Showing the top 300 by review status; the full set is in the sitemap.

p.Ala959Val Multiple submitters ⚠
p.Arg979Gly Multiple submitters ⚠
p.Ala1149Ser Single submitter ⚠
p.Ala1150Gly Single submitter ⚠
p.Ala1152Gly Single submitter ⚠
p.Ala1152Val Single submitter ⚠
p.Ala1159Glu Single submitter ⚠
p.Ala1170Thr Single submitter ⚠
p.Ala1182Thr Single submitter ⚠
p.Ala1198Asp Single submitter ⚠
p.Ala1198Thr Single submitter ⚠
p.Ala1198Val Single submitter ⚠
p.Ala1201Val Single submitter ⚠
p.Ala1204Thr Single submitter ⚠
p.Ala1204Val Single submitter ⚠
p.Ala1205Val Single submitter ⚠
p.Ala1217Pro Single submitter ⚠
p.Ala1217Ser Single submitter ⚠
p.Ala1252Thr Single submitter ⚠
p.Ala1265Asp Single submitter ⚠
p.Ala1265Val Single submitter ⚠
p.Ala138Thr Single submitter ⚠
p.Ala178Ser Single submitter ⚠
p.Ala191Val Single submitter ⚠
p.Ala250Ser Single submitter ⚠
p.Ala250Val Single submitter ⚠
p.Ala257Val Single submitter ⚠
p.Ala347Thr Single submitter ⚠
p.Ala382Asp Single submitter ⚠
p.Ala382Thr Single submitter ⚠
p.Ala38Ser Single submitter ⚠
p.Ala404Pro Single submitter
p.Ala435Val Single submitter ⚠
p.Ala444Glu Single submitter
p.Ala474Val Single submitter ⚠
p.Ala523Glu Single submitter ⚠
p.Ala629Thr Single submitter ⚠
p.Ala640Thr Single submitter ⚠
p.Ala646Val Single submitter ⚠
p.Ala660Thr Single submitter ⚠
p.Ala668Ser Single submitter ⚠
p.Ala67Val Single submitter ⚠
p.Ala681Val Single submitter ⚠
p.Ala719Gly Single submitter ⚠
p.Ala719Val Single submitter ⚠
p.Ala7Gly Single submitter ⚠
p.Ala881Ser Single submitter ⚠
p.Ala904Val Single submitter ⚠
p.Ala941Val Single submitter ⚠
p.Ala948Thr Single submitter ⚠
p.Ala95Ser Single submitter ⚠
p.Ala95Thr Single submitter
p.Ala987Ser Single submitter ⚠
p.Arg1158Gln Single submitter ⚠
p.Arg1172Pro Single submitter ⚠
p.Arg1184Ser Single submitter ⚠
p.Arg1190Leu Single submitter ⚠
p.Arg1194His Single submitter ⚠
p.Arg1202Ser Single submitter ⚠
p.Arg124Cys Single submitter ⚠
p.Arg124His Single submitter ⚠
p.Arg1267Cys Single submitter ⚠
p.Arg1267His Single submitter ⚠
p.Arg1275Cys Single submitter ⚠
p.Arg171Trp Single submitter ⚠
p.Arg320Ser Single submitter ⚠
p.Arg326Cys Single submitter ⚠
p.Arg399Gln Single submitter
p.Arg403Lys Single submitter ⚠
p.Arg515Ser Single submitter
p.Arg538Ser Single submitter ⚠
p.Arg598Gln Single submitter ⚠
p.Arg598Leu Single submitter ⚠
p.Arg634Pro Single submitter ⚠
p.Arg634Trp Single submitter ⚠
p.Arg644Gln Single submitter ⚠
p.Arg644Leu Single submitter ⚠
p.Arg667Trp Single submitter ⚠
p.Arg679Gly Single submitter ⚠
p.Arg679Leu Single submitter ⚠
p.Arg679Pro Single submitter ⚠
p.Arg683Cys Single submitter ⚠
p.Arg689Cys Single submitter ⚠
p.Arg689His Single submitter ⚠
p.Arg693Gln Single submitter ⚠
p.Arg693Gly Single submitter ⚠
p.Arg693Leu Single submitter ⚠
p.Arg704Ile Single submitter ⚠
p.Arg883Ile Single submitter ⚠
p.Arg909Cys Single submitter ⚠
p.Arg933Gln Single submitter
p.Arg933Trp Single submitter ⚠
p.Arg979His Single submitter ⚠
p.Arg979Leu Single submitter ⚠
p.Arg980Ser Single submitter ⚠
p.Asn119Ser Single submitter ⚠
p.Asn246Thr Single submitter ⚠
p.Asn27Ser Single submitter ⚠
p.Asn449Ile Single submitter
p.Asp1153Asn Single submitter ⚠
p.Asp115His Single submitter ⚠
p.Asp268Glu Single submitter ⚠
p.Asp269Ala Single submitter ⚠
p.Asp30Asn Single submitter ⚠
p.Asp342Asn Single submitter ⚠
p.Asp342Glu Single submitter ⚠
p.Asp450Asn Single submitter ⚠
p.Asp525Tyr Single submitter ⚠
p.Asp543Gly Single submitter
p.Asp572Asn Single submitter ⚠
p.Asp639Asn Single submitter ⚠
p.Asp691Glu Single submitter ⚠
p.Cys1288Arg Single submitter ⚠
p.Cys1288Phe Single submitter ⚠
p.Cys551Phe Single submitter ⚠
p.Cys556Arg Single submitter ⚠
p.Cys583Tyr Single submitter ⚠
p.Cys622Tyr Single submitter ⚠
p.Cys676Trp Single submitter ⚠
p.Cys737Phe Single submitter ⚠
p.Cys931Tyr Single submitter ⚠
p.Cys975Arg Single submitter ⚠
p.Cys975Phe Single submitter ⚠
p.Cys986Ser Single submitter ⚠
p.Gln1271Lys Single submitter ⚠
p.Gln437Arg Single submitter ⚠
p.Gln437Glu Single submitter ⚠
p.Gln530Glu Single submitter ⚠
p.Gln678Lys Single submitter ⚠
p.Gln79Pro Single submitter
p.Gln866Leu Single submitter ⚠
p.Gln894His Single submitter ⚠
p.Glu1286Lys Single submitter ⚠
p.Glu173Lys Single submitter ⚠
p.Glu278Asp Single submitter ⚠
p.Glu278Gly Single submitter ⚠
p.Glu334Asp Single submitter ⚠
p.Glu561Lys Single submitter ⚠
p.Glu589Lys Single submitter ⚠
p.Glu677Lys Single submitter ⚠
p.Glu727Lys Single submitter ⚠
p.Glu87Gln Single submitter ⚠
p.Glu955Gly Single submitter ⚠
p.Gly116Cys Single submitter ⚠
p.Gly1187Arg Single submitter ⚠
p.Gly1222Ala Single submitter ⚠
p.Gly1223Arg Single submitter ⚠
p.Gly1223Ser Single submitter ⚠
p.Gly1233Ala Single submitter ⚠
p.Gly176Arg Single submitter ⚠
p.Gly314Arg Single submitter
p.Gly319Arg Single submitter ⚠
p.Gly340Arg Single submitter ⚠
p.Gly415Asp Single submitter ⚠
p.Gly415Val Single submitter ⚠
p.Gly417Arg Single submitter ⚠
p.Gly512Cys Single submitter ⚠
p.Gly520Ala Single submitter ⚠
p.Gly532Arg Single submitter ⚠
p.Gly546Arg Single submitter ⚠
p.Gly546Asp Single submitter ⚠
p.Gly546Ser Single submitter ⚠
p.Gly55Ser Single submitter ⚠
p.Gly560Asp Single submitter ⚠
p.Gly575Asp Single submitter ⚠
p.Gly57Trp Single submitter ⚠
p.Gly603Arg Single submitter
p.Gly613Asp Single submitter ⚠
p.Gly613Cys Single submitter ⚠
p.Gly645Cys Single submitter
p.Gly649Arg Single submitter ⚠
p.Gly68Ser Single submitter
p.Gly713Arg Single submitter ⚠
p.Gly713Glu Single submitter ⚠
p.Gly714Val Single submitter ⚠
p.Gly787Arg Single submitter ⚠
p.Gly86Arg Single submitter ⚠
p.Gly927Val Single submitter ⚠
p.Gly953Arg Single submitter
p.Gly957Arg Single submitter
p.Gly960Glu Single submitter ⚠
p.Gly981Glu Single submitter ⚠
p.Gly98Glu Single submitter ⚠
p.His223Gln Single submitter ⚠
p.His271Pro Single submitter ⚠
p.His635Gln Single submitter ⚠
p.His650Tyr Single submitter ⚠
p.His877Tyr Single submitter ⚠
p.His878Tyr Single submitter ⚠
p.Ile1257Val Single submitter ⚠
p.Ile1266Met Single submitter ⚠
p.Ile129Phe Single submitter ⚠
p.Ile204Arg Single submitter ⚠
p.Ile256Thr Single submitter ⚠
p.Ile256Val Single submitter ⚠
p.Ile519Thr Single submitter ⚠
p.Ile519Val Single submitter ⚠
p.Ile542Met Single submitter ⚠
p.Ile547Phe Single submitter ⚠
p.Ile607Val Single submitter ⚠
p.Ile918Thr Single submitter ⚠
p.Leu1037Phe Single submitter ⚠
p.Leu1066Phe Single submitter ⚠
p.Leu221Pro Single submitter ⚠
p.Leu266Met Single submitter ⚠
p.Leu276Phe Single submitter ⚠
p.Leu346Ser Single submitter ⚠
p.Leu540Phe Single submitter
p.Leu652Phe Single submitter ⚠
p.Leu753Phe Single submitter ⚠
p.Leu968Phe Single submitter ⚠
p.Lys1180Asn Single submitter ⚠
p.Lys1273Met Single submitter ⚠
p.Lys1284Asn Single submitter ⚠
p.Lys1285Glu Single submitter ⚠
p.Lys198Asn Single submitter ⚠
p.Lys213Glu Single submitter ⚠
p.Lys298Glu Single submitter ⚠
p.Lys349Asn Single submitter ⚠
p.Met215Val Single submitter ⚠
p.Met356Lys Single submitter ⚠
p.Met357Arg Single submitter ⚠
p.Met766Val Single submitter ⚠
p.Phe409Cys Single submitter ⚠
p.Phe409Ile Single submitter ⚠
p.Phe422Leu Single submitter
p.Pro1052Leu Single submitter ⚠
p.Pro1185Leu Single submitter ⚠
p.Pro1185Ser Single submitter ⚠
p.Pro1199Leu Single submitter ⚠
p.Pro1212Arg Single submitter ⚠
p.Pro16Arg Single submitter ⚠
p.Pro253Ser Single submitter ⚠
p.Pro28Ala Single submitter ⚠
p.Pro371Ser Single submitter ⚠
p.Pro40Leu Single submitter ⚠
p.Pro439Ser Single submitter ⚠
p.Pro601Thr Single submitter ⚠
p.Pro690Leu Single submitter ⚠
p.Pro782Ser Single submitter ⚠
p.Pro868Ala Single submitter ⚠
p.Pro868Thr Single submitter ⚠
p.Pro956Ser Single submitter ⚠
p.Ser1162Asn Single submitter ⚠
p.Ser1162Gly Single submitter ⚠
p.Ser1169Leu Single submitter ⚠
p.Ser1169Trp Single submitter ⚠
p.Ser1186Asn Single submitter ⚠
p.Ser1189Tyr Single submitter ⚠
p.Ser1209Thr Single submitter ⚠
p.Ser1244Tyr Single submitter ⚠
p.Ser317Ala Single submitter ⚠
p.Ser33Tyr Single submitter ⚠
p.Ser387Pro Single submitter ⚠
p.Ser438Thr Single submitter ⚠
p.Ser457Phe Single submitter ⚠
p.Ser501Cys Single submitter ⚠
p.Ser505Asn Single submitter ⚠
p.Ser565Leu Single submitter ⚠
p.Ser648Cys Single submitter ⚠
p.Ser648Ile Single submitter ⚠
p.Ser711Phe Single submitter ⚠
p.Ser774Phe Single submitter ⚠
p.Thr1019Ser Single submitter ⚠
p.Thr1038Ile Single submitter ⚠
p.Thr1156Ala Single submitter
p.Thr19Ile Single submitter ⚠
p.Thr255Ala Single submitter ⚠
p.Thr262Ile Single submitter ⚠
p.Thr282Ala Single submitter ⚠
p.Thr292Ser Single submitter ⚠
p.Thr373Ile Single submitter ⚠
p.Thr400Met Single submitter
p.Thr488Ala Single submitter ⚠
p.Thr488Ser Single submitter ⚠
p.Thr576Ile Single submitter ⚠
p.Thr579Lys Single submitter ⚠
p.Thr579Met Single submitter ⚠
p.Thr631Met Single submitter ⚠
p.Thr686Ile Single submitter ⚠
p.Thr710Ala Single submitter ⚠
p.Thr747Ile Single submitter ⚠
p.Thr750Ser Single submitter ⚠
p.Thr869Ala Single submitter ⚠
p.Thr951Arg Single submitter ⚠
p.Trp272Cys Single submitter ⚠
p.Tyr337Cys Single submitter ⚠
p.Tyr606Cys Single submitter ⚠
p.Tyr621Cys Single submitter ⚠
p.Tyr735Cys Single submitter
p.Val1035Ala Single submitter ⚠
p.Val1197Leu Single submitter ⚠
p.Val207Gly Single submitter ⚠
p.Val284Leu Single submitter ⚠
p.Val360Met Single submitter ⚠
p.Val392Ala Single submitter ⚠
p.Val420Asp Single submitter ⚠
p.Val863Ile Single submitter ⚠
p.Val879Met Single submitter ⚠
p.Val8Ile Single submitter ⚠