CNTN5 — 204 ClinVar variants
All ClinVar germline CNTN5 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 152 flagged for review →
2 Conflicting · 13 Benign · 1 Benign/Likely benign · 17 Likely benign · 171 Uncertain significance
Full CNTN5 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 152
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 125
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
-
CNTN5 p.Asp737Val
Uncertain significance
Multiple submitters
CNTN5-related disorder
- CNTN5 p.Ala1001Gly Uncertain significance Single submitter
- CNTN5 p.Ala1031Thr Uncertain significance Single submitter
- CNTN5 p.Ala1038Ser Uncertain significance Single submitter
- CNTN5 p.Ala1047Thr Uncertain significance Single submitter
- CNTN5 p.Ala120Glu Uncertain significance Single submitter
- CNTN5 p.Ala469Thr Uncertain significance Single submitter
- CNTN5 p.Ala521Glu Uncertain significance Single submitter
-
CNTN5 p.Ala529Val
Uncertain significance
Single submitter
CNTN5-related disorder
- CNTN5 p.Ala72Glu Uncertain significance Single submitter
- CNTN5 p.Ala812Ser Uncertain significance Single submitter
- CNTN5 p.Ala884Val Uncertain significance Single submitter
- CNTN5 p.Arg126His Uncertain significance Single submitter
- CNTN5 p.Arg200Gln Uncertain significance Single submitter
- CNTN5 p.Arg290Cys Uncertain significance Single submitter
- CNTN5 p.Arg346Cys Uncertain significance Single submitter
- CNTN5 p.Arg346His Uncertain significance Single submitter
- CNTN5 p.Arg348Gln Uncertain significance Single submitter
- CNTN5 p.Arg370Thr Uncertain significance Single submitter
- CNTN5 p.Arg375His Uncertain significance Single submitter
- CNTN5 p.Arg418Ile Uncertain significance Single submitter
- CNTN5 p.Arg537Gln Uncertain significance Single submitter
- CNTN5 p.Arg53Gln Uncertain significance Single submitter
- CNTN5 p.Arg709Cys Uncertain significance Single submitter
- CNTN5 p.Arg709His Uncertain significance Single submitter
- CNTN5 p.Arg709Leu Uncertain significance Single submitter
- CNTN5 p.Arg767Cys Uncertain significance Single submitter
- CNTN5 p.Arg819His Uncertain significance Single submitter
- CNTN5 p.Arg837Gln Uncertain significance Single submitter
- CNTN5 p.Asn440Ser Uncertain significance Single submitter
- CNTN5 p.Asn816Ser Uncertain significance Single submitter
- CNTN5 p.Asn943Asp Uncertain significance Single submitter
- CNTN5 p.Cys869Ser Uncertain significance Single submitter
- CNTN5 p.Gln172Arg Uncertain significance Single submitter
- CNTN5 p.Glu1003Val Uncertain significance Single submitter
- CNTN5 p.Glu1025Asp Uncertain significance Single submitter
- CNTN5 p.Glu321Asp Uncertain significance Single submitter
- CNTN5 p.Glu546Gln Uncertain significance Single submitter
- CNTN5 p.Glu617Lys Uncertain significance Single submitter
- CNTN5 p.Glu724Lys Uncertain significance Single submitter
- CNTN5 p.Gly1067Asp Uncertain significance Single submitter
- CNTN5 p.Gly155Asp Uncertain significance Single submitter
- CNTN5 p.Gly553Val Uncertain significance Single submitter
- CNTN5 p.Gly621Arg Uncertain significance Single submitter
- CNTN5 p.Gly808Ser Uncertain significance Single submitter
- CNTN5 p.His305Arg Uncertain significance Single submitter
- CNTN5 p.His305Gln Uncertain significance Single submitter
- CNTN5 p.His446Pro Uncertain significance Single submitter
- CNTN5 p.Ile226Asn Uncertain significance Single submitter
- CNTN5 p.Ile227Val Uncertain significance Single submitter
- CNTN5 p.Ile256Val Uncertain significance Single submitter
- CNTN5 p.Ile341Val Uncertain significance Single submitter
- CNTN5 p.Ile467Val Uncertain significance Single submitter
- CNTN5 p.Ile513Val Uncertain significance Single submitter
- CNTN5 p.Ile563Leu Uncertain significance Single submitter
- CNTN5 p.Ile574Thr Uncertain significance Single submitter
- CNTN5 p.Ile614Val Uncertain significance Single submitter
- CNTN5 p.Ile865Thr Uncertain significance Single submitter
- CNTN5 p.Ile899Val Uncertain significance Single submitter
- CNTN5 p.Lys22Glu Uncertain significance Single submitter
- CNTN5 p.Lys49Arg Uncertain significance Single submitter
- CNTN5 p.Lys517Asn Uncertain significance Single submitter
- CNTN5 p.Lys897Gln Uncertain significance Single submitter
- CNTN5 p.Met15Thr Uncertain significance Single submitter
- CNTN5 p.Met295Leu Uncertain significance Single submitter
- CNTN5 p.Met438Ile Uncertain significance Single submitter
- CNTN5 p.Met438Val Uncertain significance Single submitter
- CNTN5 p.Met444Ile Uncertain significance Single submitter
- CNTN5 p.Met730Leu Uncertain significance Single submitter
- CNTN5 p.Met730Val Uncertain significance Single submitter
- CNTN5 p.Met8Lys Uncertain significance Single submitter
- CNTN5 p.Phe10Ile Uncertain significance Single submitter
- CNTN5 p.Phe246Cys Uncertain significance Single submitter
- CNTN5 p.Phe246Ser Uncertain significance Single submitter
- CNTN5 p.Pro1034Ser Uncertain significance Single submitter
- CNTN5 p.Pro105Leu Uncertain significance Single submitter
- CNTN5 p.Pro129Ser Uncertain significance Single submitter
- CNTN5 p.Pro220Gln Uncertain significance Single submitter
- CNTN5 p.Pro25Arg Uncertain significance Single submitter
- CNTN5 p.Pro300Leu Uncertain significance Single submitter
- CNTN5 p.Pro328Leu Uncertain significance Single submitter
- CNTN5 p.Pro328Ser Uncertain significance Single submitter
- CNTN5 p.Pro505Ser Uncertain significance Single submitter
- CNTN5 p.Pro753Ala Uncertain significance Single submitter
- CNTN5 p.Pro79Ser Uncertain significance Single submitter
- CNTN5 p.Pro973Ser Uncertain significance Single submitter
- CNTN5 p.Ser1049Thr Uncertain significance Single submitter
- CNTN5 p.Ser1084Leu Uncertain significance Single submitter
- CNTN5 p.Ser151Gly Uncertain significance Single submitter
- CNTN5 p.Ser631Ala Uncertain significance Single submitter
- CNTN5 p.Ser658Cys Uncertain significance Single submitter
- CNTN5 p.Ser65Tyr Uncertain significance Single submitter
- CNTN5 p.Ser68Gly Uncertain significance Single submitter
- CNTN5 p.Ser732Pro Uncertain significance Single submitter
- CNTN5 p.Ser784Asn Uncertain significance Single submitter
- CNTN5 p.Ser94Asn Uncertain significance Single submitter
- CNTN5 p.Ser963Asn Uncertain significance Single submitter
- CNTN5 p.Ser963Gly Uncertain significance Single submitter
- CNTN5 p.Ser979Gly Uncertain significance Single submitter
- CNTN5 p.Thr14Ile Uncertain significance Single submitter
- CNTN5 p.Thr156Ser Uncertain significance Single submitter
- CNTN5 p.Thr316Lys Uncertain significance Single submitter
- CNTN5 p.Thr399Ala Uncertain significance Single submitter
- CNTN5 p.Thr399Ile Uncertain significance Single submitter
- CNTN5 p.Thr577Ser Uncertain significance Single submitter
- CNTN5 p.Thr880Ile Uncertain significance Single submitter
- CNTN5 p.Trp69Gly Uncertain significance Single submitter
- CNTN5 p.Trp983Cys Uncertain significance Single submitter
- CNTN5 p.Tyr421His Uncertain significance Single submitter
- CNTN5 p.Tyr83Cys Uncertain significance Single submitter
- CNTN5 p.Tyr83His Uncertain significance Single submitter
- CNTN5 p.Tyr913Cys Uncertain significance Single submitter
- CNTN5 p.Val231Leu Uncertain significance Single submitter
- CNTN5 p.Val294Gly Uncertain significance Single submitter
- CNTN5 p.Val329Ile Uncertain significance Single submitter
- CNTN5 p.Val393Leu Uncertain significance Single submitter
- CNTN5 p.Val436Ile Uncertain significance Single submitter
- CNTN5 p.Val439Leu Uncertain significance Single submitter
- CNTN5 p.Val500Leu Uncertain significance Single submitter
- CNTN5 p.Val667Leu Uncertain significance Single submitter
- CNTN5 p.Val677Gly Uncertain significance Single submitter
- CNTN5 p.Val797Leu Uncertain significance Single submitter
- CNTN5 p.Val894Ile Uncertain significance Single submitter
- CNTN5 p.Val997Ile Uncertain significance Single submitter
-
CNTN5 p.Val1006Ile
Uncertain significance
No assertion criteria
Hirschsprung disease, susceptibility to, 1
Predictors split 27
The independent predictors disagree with each other — read with care.
- CNTN5 p.Ala192Thr Uncertain significance Single submitter
- CNTN5 p.Arg1014Thr Uncertain significance Single submitter
- CNTN5 p.Arg370Gly Uncertain significance Single submitter
- CNTN5 p.Arg435Ser Uncertain significance Single submitter
- CNTN5 p.Asn277Asp Uncertain significance Single submitter
- CNTN5 p.Asp263Glu Uncertain significance Single submitter
- CNTN5 p.Asp661Val Uncertain significance Single submitter
- CNTN5 p.Glu684Lys Uncertain significance Single submitter
- CNTN5 p.Glu800Gly Uncertain significance Single submitter
- CNTN5 p.Gly326Ser Uncertain significance Single submitter
- CNTN5 p.Gly672Asp Uncertain significance Single submitter
- CNTN5 p.His947Asp Uncertain significance Single submitter
- CNTN5 p.Ile142Met Uncertain significance Single submitter
- CNTN5 p.Ile501Thr Conflicting Single submitter
- CNTN5 p.Leu354Met Uncertain significance Single submitter
- CNTN5 p.Phe110Leu Uncertain significance Single submitter
-
CNTN5 p.Phe238Leu
Uncertain significance
Single submitter
CNTN5-related Neurodevelopmental disorder
- CNTN5 p.Phe380Leu Uncertain significance Single submitter
- CNTN5 p.Pro357Leu Conflicting Single submitter
- CNTN5 p.Pro846Arg Uncertain significance Single submitter
- CNTN5 p.Pro846Leu Uncertain significance Single submitter
- CNTN5 p.Ser163Gly Uncertain significance Single submitter
- CNTN5 p.Ser184Asn Uncertain significance Single submitter
- CNTN5 p.Ser972Tyr Uncertain significance Single submitter
- CNTN5 p.Thr288Pro Uncertain significance Single submitter
- CNTN5 p.Trp69Cys Uncertain significance Single submitter
-
CNTN5 p.Thr845Ile
Uncertain significance
No assertion criteria
CNTN5-related disorder
All CNTN5 variants
Conflicting classifications of pathogenicity 2
- p.Ile501Thr Single submitter ⚠
- p.Pro357Leu Single submitter ⚠
Benign 13
- p.Glu805Asp Multiple submitters
- p.Gly427= Multiple submitters
- p.Ile158Met Multiple submitters
- p.Leu70Arg Multiple submitters
- p.Met1094Val Multiple submitters
- p.Ser1084= Multiple submitters
- p.Tyr1065Phe Multiple submitters
- p.Arg375= Single submitter
- p.Leu1090= Single submitter
- c.277+10A>G No assertion criteria CNTN5-related disorder
- p.Gln1027Pro No assertion criteria CNTN5-related disorder
- p.Leu430= No assertion criteria CNTN5-related disorder
- p.Leu790Ile No assertion criteria CNTN5-related disorder
Benign/Likely benign 1
- p.Lys349Asn Multiple submitters
Likely benign 17
- p.Gly210= Multiple submitters
- c.2006-7C>T Single submitter
- c.981-5C>T Single submitter
- p.Asn447Ser Single submitter
- p.Asp598= Single submitter
- p.Tyr267= Single submitter
- c.2730+16T>C No assertion criteria CNTN5-related disorder
- p.Ala735= No assertion criteria CNTN5-related disorder
- p.Arg764Gln No assertion criteria CNTN5-related disorder
- p.Gly852= No assertion criteria CNTN5-related disorder
- p.Phe110Ser No assertion criteria CNTN5-related disorder
- p.Phe616= No assertion criteria CNTN5-related disorder
- p.Pro328Ala No assertion criteria CNTN5-related disorder
- p.Ser160= No assertion criteria CNTN5-related disorder
- p.Thr577= No assertion criteria CNTN5-related disorder
- p.Tyr1041Cys No assertion criteria CNTN5-related disorder
- p.Val935Ile No assertion criteria EBV-positive nodal T- and NK-cell lymphoma
Uncertain significance 171
- p.Asp737Val Multiple submitters CNTN5-related disorder ⚠
- p.Ala1001Gly Single submitter ⚠
- p.Ala1031Thr Single submitter ⚠
- p.Ala1038Ser Single submitter ⚠
- p.Ala1047Thr Single submitter ⚠
- p.Ala120Glu Single submitter ⚠
- p.Ala192Thr Single submitter ⚠
- p.Ala469Thr Single submitter ⚠
- p.Ala521Glu Single submitter ⚠
- p.Ala529Val Single submitter CNTN5-related disorder ⚠
- p.Ala72Glu Single submitter ⚠
- p.Ala812Ser Single submitter ⚠
- p.Ala871Pro Single submitter
- p.Ala884Val Single submitter ⚠
- p.Arg1014Thr Single submitter ⚠
- p.Arg126His Single submitter ⚠
- p.Arg200Gln Single submitter ⚠
- p.Arg200Trp Single submitter
- p.Arg290Cys Single submitter ⚠
- p.Arg346Cys Single submitter ⚠
- p.Arg346His Single submitter ⚠
- p.Arg348Gln Single submitter ⚠
- p.Arg370Gly Single submitter ⚠
- p.Arg370Thr Single submitter ⚠
- p.Arg375His Single submitter ⚠
- p.Arg418Ile Single submitter ⚠
- p.Arg435Ser Single submitter ⚠
- p.Arg537Gln Single submitter ⚠
- p.Arg53Gln Single submitter ⚠
- p.Arg552Gly Single submitter
- p.Arg709Cys Single submitter ⚠
- p.Arg709His Single submitter ⚠
- p.Arg709Leu Single submitter ⚠
- p.Arg767Cys Single submitter ⚠
- p.Arg819His Single submitter ⚠
- p.Arg837Gln Single submitter ⚠
- p.Asn277Asp Single submitter ⚠
- p.Asn358Lys Single submitter
- p.Asn440Ser Single submitter ⚠
- p.Asn555fs Single submitter CNTN5-related disorder
- p.Asn816Ser Single submitter ⚠
- p.Asn943Asp Single submitter ⚠
- p.Asp263Glu Single submitter ⚠
- p.Asp634Glu Single submitter
- p.Asp661Val Single submitter ⚠
- p.Cys869Ser Single submitter ⚠
- p.Gln172Arg Single submitter ⚠
- p.Glu1003Val Single submitter ⚠
- p.Glu1025Asp Single submitter ⚠
- p.Glu321Asp Single submitter ⚠
- p.Glu546Gln Single submitter ⚠
- p.Glu617Lys Single submitter ⚠
- p.Glu684Lys Single submitter ⚠
- p.Glu724Lys Single submitter ⚠
- p.Glu800Gly Single submitter ⚠
- p.Gly1017Val Single submitter
- p.Gly1039Glu Single submitter
- p.Gly1067Asp Single submitter ⚠
- p.Gly155Asp Single submitter ⚠
- p.Gly326Ser Single submitter ⚠
- p.Gly553Val Single submitter ⚠
- p.Gly621Arg Single submitter ⚠
- p.Gly672Asp Single submitter ⚠
- p.Gly808Ser Single submitter ⚠
- p.Gly930Glu Single submitter
- p.His305Arg Single submitter ⚠
- p.His305Gln Single submitter ⚠
- p.His446Pro Single submitter ⚠
- p.His947Asp Single submitter ⚠
- p.Ile142Met Single submitter ⚠
- p.Ile159Val Single submitter
- p.Ile226Asn Single submitter ⚠
- p.Ile227Val Single submitter ⚠
- p.Ile256Val Single submitter ⚠
- p.Ile341Val Single submitter ⚠
- p.Ile356Val Single submitter
- p.Ile467Val Single submitter ⚠
- p.Ile491Thr Single submitter
- p.Ile513Val Single submitter ⚠
- p.Ile563Leu Single submitter ⚠
- p.Ile574Thr Single submitter ⚠
- p.Ile614Val Single submitter ⚠
- p.Ile792Met Single submitter
- p.Ile865Thr Single submitter ⚠
- p.Ile899Val Single submitter ⚠
- p.Leu354Met Single submitter ⚠
- p.Lys22Glu Single submitter ⚠
- p.Lys344Asn Single submitter
- p.Lys49Arg Single submitter ⚠
- p.Lys517Asn Single submitter ⚠
- p.Lys897Gln Single submitter ⚠
- p.Met15Thr Single submitter ⚠
- p.Met295Leu Single submitter ⚠
- p.Met438Ile Single submitter ⚠
- p.Met438Val Single submitter ⚠
- p.Met444Ile Single submitter ⚠
- p.Met730Leu Single submitter ⚠
- p.Met730Val Single submitter ⚠
- p.Met8Lys Single submitter ⚠
- p.Phe10Ile Single submitter ⚠
- p.Phe110Leu Single submitter ⚠
- p.Phe238Leu Single submitter CNTN5-related Neurodevelopmental disorder ⚠
- p.Phe246Cys Single submitter ⚠
- p.Phe246Ser Single submitter ⚠
- p.Phe380Leu Single submitter ⚠
- p.Pro1034Ser Single submitter ⚠
- p.Pro105Leu Single submitter ⚠
- p.Pro129Ser Single submitter ⚠
- p.Pro220Gln Single submitter ⚠
- p.Pro25Arg Single submitter ⚠
- p.Pro300Leu Single submitter ⚠
- p.Pro328Leu Single submitter ⚠
- p.Pro328Ser Single submitter ⚠
- p.Pro505Ser Single submitter ⚠
- p.Pro673Gln Single submitter
- p.Pro753Ala Single submitter ⚠
- p.Pro79Ser Single submitter ⚠
- p.Pro846Arg Single submitter ⚠
- p.Pro846Leu Single submitter ⚠
- p.Pro973Ser Single submitter ⚠
- p.Ser1004Tyr Single submitter
- p.Ser1049Thr Single submitter ⚠
- p.Ser1084Leu Single submitter ⚠
- p.Ser151Gly Single submitter ⚠
- p.Ser163Gly Single submitter ⚠
- p.Ser184Asn Single submitter ⚠
- p.Ser206Phe Single submitter
- p.Ser631Ala Single submitter ⚠
- p.Ser658Cys Single submitter ⚠
- p.Ser65Tyr Single submitter ⚠
- p.Ser68Gly Single submitter ⚠
- p.Ser732Pro Single submitter ⚠
- p.Ser784Asn Single submitter ⚠
- p.Ser933Tyr Single submitter
- p.Ser94Asn Single submitter ⚠
- p.Ser963Asn Single submitter ⚠
- p.Ser963Gly Single submitter ⚠
- p.Ser972Tyr Single submitter ⚠
- p.Ser979Gly Single submitter ⚠
- p.Thr14Ile Single submitter ⚠
- p.Thr156Ser Single submitter ⚠
- p.Thr288Pro Single submitter ⚠
- p.Thr316Lys Single submitter ⚠
- p.Thr399Ala Single submitter ⚠
- p.Thr399Ile Single submitter ⚠
- p.Thr577Ser Single submitter ⚠
- p.Thr768Ala Single submitter
- p.Thr880Ile Single submitter ⚠
- p.Trp69Cys Single submitter ⚠
- p.Trp69Gly Single submitter ⚠
- p.Trp983Cys Single submitter ⚠
- p.Tyr421His Single submitter ⚠
- p.Tyr83Cys Single submitter ⚠
- p.Tyr83His Single submitter ⚠
- p.Tyr913Cys Single submitter ⚠
- p.Val231Leu Single submitter ⚠
- p.Val294Gly Single submitter ⚠
- p.Val329Ile Single submitter ⚠
- p.Val393Leu Single submitter ⚠
- p.Val436Ile Single submitter ⚠
- p.Val439Leu Single submitter ⚠
- p.Val500Leu Single submitter ⚠
- p.Val667Leu Single submitter ⚠
- p.Val677Gly Single submitter ⚠
- p.Val797Leu Single submitter ⚠
- p.Val894Ile Single submitter ⚠
- p.Val997Ile Single submitter ⚠
- c.2731-4A>G No assertion criteria CNTN5-related disorder
- p.Glu104Lys No assertion criteria CNTN5-related disorder
- p.Thr845Ile No assertion criteria CNTN5-related disorder ⚠
- p.Val1006Ile No assertion criteria Hirschsprung disease, susceptibility to, 1 ⚠