CNTNAP5 — 223 ClinVar variants
All ClinVar germline CNTNAP5 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 174 flagged for review →
1 Conflicting · 12 Benign · 1 Benign/Likely benign · 22 Likely benign · 187 Uncertain significance
Full CNTNAP5 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 174
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 agree, ClinVar conflicts 1
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
Predictors lean, ClinVar uncertain 139
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- CNTNAP5 p.Arg1182His Uncertain significance Multiple submitters
- CNTNAP5 p.Arg1261Trp Uncertain significance Multiple submitters
- CNTNAP5 p.Ala1035Val Uncertain significance Single submitter
- CNTNAP5 p.Ala1050Glu Uncertain significance Single submitter
- CNTNAP5 p.Ala249Glu Uncertain significance Single submitter
- CNTNAP5 p.Ala458Ser Uncertain significance Single submitter
- CNTNAP5 p.Ala458Thr Uncertain significance Single submitter
- CNTNAP5 p.Ala775Gly Uncertain significance Single submitter
- CNTNAP5 p.Ala776Ser Uncertain significance Single submitter
- CNTNAP5 p.Arg1111Gly Uncertain significance Single submitter
- CNTNAP5 p.Arg1122Gln Uncertain significance Single submitter
- CNTNAP5 p.Arg1134Gly Uncertain significance Single submitter
- CNTNAP5 p.Arg1227Gly Uncertain significance Single submitter
- CNTNAP5 p.Arg1271Cys Uncertain significance Single submitter
- CNTNAP5 p.Arg1271His Uncertain significance Single submitter
- CNTNAP5 p.Arg1271Ser Uncertain significance Single submitter
- CNTNAP5 p.Arg153Cys Uncertain significance Single submitter
- CNTNAP5 p.Arg153His Uncertain significance Single submitter
- CNTNAP5 p.Arg186Gln Uncertain significance Single submitter
- CNTNAP5 p.Arg225Ser Uncertain significance Single submitter
- CNTNAP5 p.Arg250Trp Uncertain significance Single submitter
- CNTNAP5 p.Arg436Cys Uncertain significance Single submitter
- CNTNAP5 p.Arg436Gly Uncertain significance Single submitter
- CNTNAP5 p.Arg642Gln Uncertain significance Single submitter
- CNTNAP5 p.Arg642Pro Uncertain significance Single submitter
- CNTNAP5 p.Asn1040Ser Uncertain significance Single submitter
- CNTNAP5 p.Asn1147Ser Uncertain significance Single submitter
- CNTNAP5 p.Asn1158Thr Uncertain significance Single submitter
- CNTNAP5 p.Asn243Ser Uncertain significance Single submitter
- CNTNAP5 p.Asn647His Uncertain significance Single submitter
- CNTNAP5 p.Asn705Ser Uncertain significance Single submitter
- CNTNAP5 p.Asp670Glu Uncertain significance Single submitter
- CNTNAP5 p.Asp748Asn Uncertain significance Single submitter
- CNTNAP5 p.Asp942Glu Uncertain significance Single submitter
- CNTNAP5 p.Gln1120His Uncertain significance Single submitter
- CNTNAP5 p.Gln1265His Uncertain significance Single submitter
- CNTNAP5 p.Gln386Lys Uncertain significance Single submitter
- CNTNAP5 p.Gln482Glu Uncertain significance Single submitter
- CNTNAP5 p.Gln76His Uncertain significance Single submitter
- CNTNAP5 p.Glu1130Lys Uncertain significance Single submitter
- CNTNAP5 p.Glu1291Gly Uncertain significance Single submitter
- CNTNAP5 p.Glu1300Lys Uncertain significance Single submitter
- CNTNAP5 p.Glu331Lys Uncertain significance Single submitter
- CNTNAP5 p.Glu663Lys Uncertain significance Single submitter
- CNTNAP5 p.Glu976Lys Uncertain significance Single submitter
-
CNTNAP5 p.Gly1242Glu
Uncertain significance
Single submitter
CNTNAP5-related disorder
- CNTNAP5 p.Gly236Glu Uncertain significance Single submitter
- CNTNAP5 p.Gly532Cys Uncertain significance Single submitter
- CNTNAP5 p.Gly659Arg Uncertain significance Single submitter
- CNTNAP5 p.Gly694Arg Uncertain significance Single submitter
- CNTNAP5 p.Gly965Ser Uncertain significance Single submitter
- CNTNAP5 p.Gly98Arg Uncertain significance Single submitter
- CNTNAP5 p.His1270Tyr Uncertain significance Single submitter
- CNTNAP5 p.His241Arg Uncertain significance Single submitter
- CNTNAP5 p.His349Leu Uncertain significance Single submitter
- CNTNAP5 p.His349Tyr Uncertain significance Single submitter
- CNTNAP5 p.His597Asn Uncertain significance Single submitter
- CNTNAP5 p.His674Arg Uncertain significance Single submitter
- CNTNAP5 p.His734Arg Uncertain significance Single submitter
- CNTNAP5 p.Ile1023Val Uncertain significance Single submitter
- CNTNAP5 p.Ile1136Met Uncertain significance Single submitter
- CNTNAP5 p.Ile126Thr Uncertain significance Single submitter
- CNTNAP5 p.Ile1292Met Uncertain significance Single submitter
- CNTNAP5 p.Ile303Met Uncertain significance Single submitter
- CNTNAP5 p.Ile351Leu Uncertain significance Single submitter
- CNTNAP5 p.Ile456Asn Uncertain significance Single submitter
- CNTNAP5 p.Ile456Val Uncertain significance Single submitter
- CNTNAP5 p.Ile507Val Uncertain significance Single submitter
- CNTNAP5 p.Ile629Thr Uncertain significance Single submitter
- CNTNAP5 p.Ile839Val Uncertain significance Single submitter
- CNTNAP5 p.Leu322Phe Uncertain significance Single submitter
- CNTNAP5 p.Leu333Ile Uncertain significance Single submitter
- CNTNAP5 p.Leu526Phe Uncertain significance Single submitter
- CNTNAP5 p.Leu884Pro Uncertain significance Single submitter
- CNTNAP5 p.Lys1083Arg Uncertain significance Single submitter
- CNTNAP5 p.Lys121Arg Uncertain significance Single submitter
- CNTNAP5 p.Lys1267Gln Uncertain significance Single submitter
- CNTNAP5 p.Lys1278Asn Uncertain significance Single submitter
- CNTNAP5 p.Lys196Arg Uncertain significance Single submitter
- CNTNAP5 p.Lys345Glu Uncertain significance Single submitter
- CNTNAP5 p.Lys948Asn Uncertain significance Single submitter
- CNTNAP5 p.Met1101Ile Uncertain significance Single submitter
- CNTNAP5 p.Met1117Leu Uncertain significance Single submitter
- CNTNAP5 p.Met1160Val Uncertain significance Single submitter
- CNTNAP5 p.Met1203Ile Uncertain significance Single submitter
- CNTNAP5 p.Met1203Thr Uncertain significance Single submitter
- CNTNAP5 p.Met212Ile Uncertain significance Single submitter
- CNTNAP5 p.Met654Val Uncertain significance Single submitter
- CNTNAP5 p.Phe751Ser Uncertain significance Single submitter
- CNTNAP5 p.Pro156Thr Uncertain significance Single submitter
- CNTNAP5 p.Pro382Leu Uncertain significance Single submitter
- CNTNAP5 p.Pro474Leu Uncertain significance Single submitter
- CNTNAP5 p.Pro651Ser Uncertain significance Single submitter
- CNTNAP5 p.Pro692Leu Uncertain significance Single submitter
- CNTNAP5 p.Pro696Thr Uncertain significance Single submitter
- CNTNAP5 p.Pro709Arg Uncertain significance Single submitter
- CNTNAP5 p.Pro709Ser Uncertain significance Single submitter
- CNTNAP5 p.Pro715Ser Uncertain significance Single submitter
- CNTNAP5 p.Pro846Ser Uncertain significance Single submitter
- CNTNAP5 p.Pro958Leu Uncertain significance Single submitter
- CNTNAP5 p.Ser107Arg Uncertain significance Single submitter
- CNTNAP5 p.Ser1199Gly Uncertain significance Single submitter
- CNTNAP5 p.Ser1206Pro Uncertain significance Single submitter
- CNTNAP5 p.Ser1217Leu Uncertain significance Single submitter
- CNTNAP5 p.Ser162Arg Uncertain significance Single submitter
- CNTNAP5 p.Ser16Cys Uncertain significance Single submitter
- CNTNAP5 p.Ser252Asn Uncertain significance Single submitter
- CNTNAP5 p.Ser375Gly Uncertain significance Single submitter
- CNTNAP5 p.Ser414Trp Uncertain significance Single submitter
- CNTNAP5 p.Ser420Arg Uncertain significance Single submitter
- CNTNAP5 p.Ser420Asn Uncertain significance Single submitter
- CNTNAP5 p.Ser533Tyr Uncertain significance Single submitter
- CNTNAP5 p.Ser577Asn Uncertain significance Single submitter
- CNTNAP5 p.Ser866Thr Uncertain significance Single submitter
- CNTNAP5 p.Ser897Asn Uncertain significance Single submitter
- CNTNAP5 p.Ser902Leu Uncertain significance Single submitter
- CNTNAP5 p.Thr1086Ala Uncertain significance Single submitter
- CNTNAP5 p.Thr1140Ser Uncertain significance Single submitter
- CNTNAP5 p.Thr1145Ile Uncertain significance Single submitter
- CNTNAP5 p.Thr1231Lys Uncertain significance Single submitter
- CNTNAP5 p.Thr1272Arg Uncertain significance Single submitter
- CNTNAP5 p.Thr128Asn Uncertain significance Single submitter
- CNTNAP5 p.Thr298Met Uncertain significance Single submitter
- CNTNAP5 p.Thr466Ser Uncertain significance Single submitter
- CNTNAP5 p.Thr64Ile Uncertain significance Single submitter
- CNTNAP5 p.Thr746Lys Uncertain significance Single submitter
- CNTNAP5 p.Thr850Ser Uncertain significance Single submitter
- CNTNAP5 p.Thr901Met Uncertain significance Single submitter
- CNTNAP5 p.Thr920Ala Uncertain significance Single submitter
- CNTNAP5 p.Tyr1280His Uncertain significance Single submitter
- CNTNAP5 p.Tyr352Cys Uncertain significance Single submitter
- CNTNAP5 p.Val1065Met Uncertain significance Single submitter
- CNTNAP5 p.Val1169Ile Uncertain significance Single submitter
- CNTNAP5 p.Val1234Ala Uncertain significance Single submitter
- CNTNAP5 p.Val217Ala Uncertain significance Single submitter
- CNTNAP5 p.Val357Gly Uncertain significance Single submitter
- CNTNAP5 p.Val62Asp Uncertain significance Single submitter
-
CNTNAP5 p.Asp203Tyr
Uncertain significance
No assertion criteria
CNTNAP5-related disorder
-
CNTNAP5 p.Phe1253Leu
Uncertain significance
No assertion criteria
CNTNAP5-related disorder
Predictors split 34
The independent predictors disagree with each other — read with care.
- CNTNAP5 p.Ala1180Val Uncertain significance Single submitter
- CNTNAP5 p.Ala239Thr Uncertain significance Single submitter
- CNTNAP5 p.Arg1182Cys Uncertain significance Single submitter
- CNTNAP5 p.Arg459Trp Uncertain significance Single submitter
- CNTNAP5 p.Arg462Cys Uncertain significance Single submitter
- CNTNAP5 p.Arg684Gly Uncertain significance Single submitter
- CNTNAP5 p.Arg783Cys Uncertain significance Single submitter
- CNTNAP5 p.Arg879Gln Uncertain significance Single submitter
- CNTNAP5 p.Arg879Trp Uncertain significance Single submitter
- CNTNAP5 p.Asn336Ser Uncertain significance Single submitter
- CNTNAP5 p.Asn623Asp Uncertain significance Single submitter
- CNTNAP5 p.Asn623Ser Uncertain significance Single submitter
- CNTNAP5 p.Asn912Lys Uncertain significance Single submitter
- CNTNAP5 p.Cys503Arg Uncertain significance Single submitter
- CNTNAP5 p.Cys503Ser Uncertain significance Single submitter
- CNTNAP5 p.Gln531Glu Uncertain significance Single submitter
- CNTNAP5 p.Gly424Arg Uncertain significance Single submitter
- CNTNAP5 p.Gly492Ala Uncertain significance Single submitter
- CNTNAP5 p.Gly532Val Uncertain significance Single submitter
- CNTNAP5 p.Gly713Ser Uncertain significance Single submitter
- CNTNAP5 p.His674Pro Uncertain significance Single submitter
- CNTNAP5 p.Ile165Thr Uncertain significance Single submitter
- CNTNAP5 p.Leu1055Val Uncertain significance Single submitter
- CNTNAP5 p.Leu428Phe Uncertain significance Single submitter
- CNTNAP5 p.Met198Lys Uncertain significance Single submitter
- CNTNAP5 p.Pro313Arg Uncertain significance Single submitter
- CNTNAP5 p.Pro859Leu Uncertain significance Single submitter
- CNTNAP5 p.Ser105Asn Uncertain significance Single submitter
- CNTNAP5 p.Thr358Ile Uncertain significance Single submitter
- CNTNAP5 p.Thr398Ser Uncertain significance Single submitter
- CNTNAP5 p.Thr464Met Uncertain significance Single submitter
- CNTNAP5 p.Thr52Pro Uncertain significance Single submitter
- CNTNAP5 p.Trp19Cys Uncertain significance Single submitter
- CNTNAP5 p.Val138Met Uncertain significance Single submitter
All CNTNAP5 variants
Conflicting classifications of pathogenicity 1
- p.Asp657Glu Single submitter ⚠
Benign 12
- c.1328-7C>T Multiple submitters
- p.Ala1187Thr Multiple submitters
- p.Asn27Thr Multiple submitters
- p.Val718Ala Multiple submitters
- c.2234+10A>C Single submitter
- c.2992+5C>G Single submitter
- p.Leu1043= Single submitter
- p.Cys592= No assertion criteria CNTNAP5-related disorder
- p.Phe1262= No assertion criteria CNTNAP5-related disorder
- p.Ser137= No assertion criteria CNTNAP5-related disorder
- p.Ser453Leu No assertion criteria CNTNAP5-related disorder
- p.Thr1196Met No assertion criteria CNTNAP5-related disorder
Benign/Likely benign 1
- p.Ala602= Multiple submitters
Likely benign 22
- p.Asp693Gly Multiple submitters
- p.Glu1130= Multiple submitters
- p.Leu251Pro Multiple submitters
- p.Tyr97= Multiple submitters
- p.Val1298= Multiple submitters
- c.2533+3A>G Single submitter
- p.Arg115= Single submitter
- p.Arg644Gln Single submitter
- p.Glu1300= Single submitter
- p.Phe829= Single submitter
- p.Pro364= Single submitter
- p.Pro385= Single submitter
- p.Pro955Ser Single submitter
- p.Val760= Single submitter
- c.-4G>A No assertion criteria CNTNAP5-related disorder
- p.Asn873= No assertion criteria CNTNAP5-related disorder
- p.Cys930= No assertion criteria CNTNAP5-related disorder
- p.Met1259Thr No assertion criteria CNTNAP5-related disorder
- p.Pro495= No assertion criteria CNTNAP5-related disorder
- p.Ser206= No assertion criteria CNTNAP5-related disorder
- p.Ser444= No assertion criteria CNTNAP5-related disorder
- p.Thr93= No assertion criteria CNTNAP5-related disorder
Uncertain significance 187
- p.Arg1182His Multiple submitters ⚠
- p.Arg1261Trp Multiple submitters ⚠
- c.733+2T>C Single submitter
- c.918+1G>C Single submitter
- p.Ala1035Val Single submitter ⚠
- p.Ala1050Glu Single submitter ⚠
- p.Ala1180Val Single submitter ⚠
- p.Ala239Thr Single submitter ⚠
- p.Ala249Glu Single submitter ⚠
- p.Ala458Ser Single submitter ⚠
- p.Ala458Thr Single submitter ⚠
- p.Ala775Gly Single submitter ⚠
- p.Ala776Ser Single submitter ⚠
- p.Arg1111Gly Single submitter ⚠
- p.Arg1122Gln Single submitter ⚠
- p.Arg1134Gly Single submitter ⚠
- p.Arg1182Cys Single submitter ⚠
- p.Arg1227Gly Single submitter ⚠
- p.Arg1235Ter Single submitter CNTNAP5-associated intellectual disability
- p.Arg1271Cys Single submitter ⚠
- p.Arg1271His Single submitter ⚠
- p.Arg1271Ser Single submitter ⚠
- p.Arg153Cys Single submitter ⚠
- p.Arg153His Single submitter ⚠
- p.Arg186Gln Single submitter ⚠
- p.Arg225Ser Single submitter ⚠
- p.Arg250Trp Single submitter ⚠
- p.Arg347Ter Single submitter
- p.Arg436Cys Single submitter ⚠
- p.Arg436Gly Single submitter ⚠
- p.Arg459Trp Single submitter ⚠
- p.Arg462Cys Single submitter ⚠
- p.Arg642Gln Single submitter ⚠
- p.Arg642Pro Single submitter ⚠
- p.Arg684Gly Single submitter ⚠
- p.Arg783Cys Single submitter ⚠
- p.Arg879Gln Single submitter ⚠
- p.Arg879Trp Single submitter ⚠
- p.Asn1040Ser Single submitter ⚠
- p.Asn1147Ser Single submitter ⚠
- p.Asn1158Thr Single submitter ⚠
- p.Asn243Ser Single submitter ⚠
- p.Asn336Ser Single submitter ⚠
- p.Asn400Thr Single submitter
- p.Asn623Asp Single submitter ⚠
- p.Asn623Ser Single submitter ⚠
- p.Asn647His Single submitter ⚠
- p.Asn705Ser Single submitter ⚠
- p.Asn912Lys Single submitter ⚠
- p.Asp670Glu Single submitter ⚠
- p.Asp748Asn Single submitter ⚠
- p.Asp942Glu Single submitter ⚠
- p.Cys503Arg Single submitter ⚠
- p.Cys503Ser Single submitter ⚠
- p.Gln1120His Single submitter ⚠
- p.Gln1265His Single submitter ⚠
- p.Gln386Lys Single submitter ⚠
- p.Gln482Glu Single submitter ⚠
- p.Gln531Glu Single submitter ⚠
- p.Gln76His Single submitter ⚠
- p.Glu1130Lys Single submitter ⚠
- p.Glu1291Gly Single submitter ⚠
- p.Glu1300Lys Single submitter ⚠
- p.Glu331Lys Single submitter ⚠
- p.Glu663Lys Single submitter ⚠
- p.Glu976Lys Single submitter ⚠
- p.Gly1193Ala Single submitter
- p.Gly1242Glu Single submitter CNTNAP5-related disorder ⚠
- p.Gly236Glu Single submitter ⚠
- p.Gly424Arg Single submitter ⚠
- p.Gly492Ala Single submitter ⚠
- p.Gly532Cys Single submitter ⚠
- p.Gly532Val Single submitter ⚠
- p.Gly659Arg Single submitter ⚠
- p.Gly694Arg Single submitter ⚠
- p.Gly702fs Single submitter
- p.Gly713Ser Single submitter ⚠
- p.Gly713Val Single submitter
- p.Gly959fs Single submitter CNTNAP5-related disorder
- p.Gly965Ser Single submitter ⚠
- p.Gly98Arg Single submitter ⚠
- p.His1270Tyr Single submitter ⚠
- p.His241Arg Single submitter ⚠
- p.His349Leu Single submitter ⚠
- p.His349Tyr Single submitter ⚠
- p.His597Asn Single submitter ⚠
- p.His674Arg Single submitter ⚠
- p.His674Pro Single submitter ⚠
- p.His734Arg Single submitter ⚠
- p.Ile1023Val Single submitter ⚠
- p.Ile1136Met Single submitter ⚠
- p.Ile126Thr Single submitter ⚠
- p.Ile1292Met Single submitter ⚠
- p.Ile165Thr Single submitter ⚠
- p.Ile303Met Single submitter ⚠
- p.Ile351Leu Single submitter ⚠
- p.Ile456Asn Single submitter ⚠
- p.Ile456Val Single submitter ⚠
- p.Ile507Val Single submitter ⚠
- p.Ile629Thr Single submitter ⚠
- p.Ile839Val Single submitter ⚠
- p.Leu1055Val Single submitter ⚠
- p.Leu322Phe Single submitter ⚠
- p.Leu333Ile Single submitter ⚠
- p.Leu428Phe Single submitter ⚠
- p.Leu526Phe Single submitter ⚠
- p.Leu884Pro Single submitter ⚠
- p.Lys1083Arg Single submitter ⚠
- p.Lys121Arg Single submitter ⚠
- p.Lys1267Gln Single submitter ⚠
- p.Lys1278Asn Single submitter ⚠
- p.Lys196Arg Single submitter ⚠
- p.Lys345Glu Single submitter ⚠
- p.Lys948Asn Single submitter ⚠
- p.Met1101Ile Single submitter ⚠
- p.Met1117Leu Single submitter ⚠
- p.Met1160Val Single submitter ⚠
- p.Met1203Ile Single submitter ⚠
- p.Met1203Thr Single submitter ⚠
- p.Met198Lys Single submitter ⚠
- p.Met212Ile Single submitter ⚠
- p.Met654Val Single submitter ⚠
- p.Phe751Ser Single submitter ⚠
- p.Pro156Thr Single submitter ⚠
- p.Pro313Arg Single submitter ⚠
- p.Pro382Leu Single submitter ⚠
- p.Pro474Leu Single submitter ⚠
- p.Pro651Ser Single submitter ⚠
- p.Pro692Leu Single submitter ⚠
- p.Pro696Thr Single submitter ⚠
- p.Pro709Arg Single submitter ⚠
- p.Pro709Ser Single submitter ⚠
- p.Pro715Ser Single submitter ⚠
- p.Pro846Ser Single submitter ⚠
- p.Pro859Leu Single submitter ⚠
- p.Pro958Leu Single submitter ⚠
- p.Ser105Asn Single submitter ⚠
- p.Ser107Arg Single submitter ⚠
- p.Ser1199Gly Single submitter ⚠
- p.Ser1206Pro Single submitter ⚠
- p.Ser1217Leu Single submitter ⚠
- p.Ser162Arg Single submitter ⚠
- p.Ser16Cys Single submitter ⚠
- p.Ser252Asn Single submitter ⚠
- p.Ser375Gly Single submitter ⚠
- p.Ser414Trp Single submitter ⚠
- p.Ser420Arg Single submitter ⚠
- p.Ser420Asn Single submitter ⚠
- p.Ser533Tyr Single submitter ⚠
- p.Ser577Asn Single submitter ⚠
- p.Ser866Thr Single submitter ⚠
- p.Ser897Asn Single submitter ⚠
- p.Ser902Leu Single submitter ⚠
- p.Thr1086Ala Single submitter ⚠
- p.Thr1140Ser Single submitter ⚠
- p.Thr1145Ile Single submitter ⚠
- p.Thr1231Lys Single submitter ⚠
- p.Thr1272Arg Single submitter ⚠
- p.Thr128Asn Single submitter ⚠
- p.Thr298Met Single submitter ⚠
- p.Thr358Ile Single submitter ⚠
- p.Thr398Ser Single submitter ⚠
- p.Thr464Met Single submitter ⚠
- p.Thr466Ser Single submitter ⚠
- p.Thr52Pro Single submitter ⚠
- p.Thr64Ile Single submitter ⚠
- p.Thr746Lys Single submitter ⚠
- p.Thr850Ser Single submitter ⚠
- p.Thr901Met Single submitter ⚠
- p.Thr920Ala Single submitter ⚠
- p.Trp19Cys Single submitter ⚠
- p.Tyr1280His Single submitter ⚠
- p.Tyr352Cys Single submitter ⚠
- p.Val1065Met Single submitter ⚠
- p.Val1077Phe Single submitter
- p.Val1169Ile Single submitter ⚠
- p.Val1189Leu Single submitter
- p.Val1214= Single submitter CNTNAP5-related disorder
- p.Val1234Ala Single submitter ⚠
- p.Val138Met Single submitter ⚠
- p.Val217Ala Single submitter ⚠
- p.Val357Gly Single submitter ⚠
- p.Val62Asp Single submitter ⚠
- c.187+1G>A No assertion criteria CNTNAP5-related disorder
- p.Asp203Tyr No assertion criteria CNTNAP5-related disorder ⚠
- p.Leu1230fs No assertion criteria CNTNAP5-related disorder
- p.Phe1253Leu No assertion criteria CNTNAP5-related disorder ⚠