CAPN12 — 269 ClinVar variants
All ClinVar germline CAPN12 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 182 flagged for review →
2 Conflicting · 56 Benign · 36 Likely benign · 175 Uncertain significance
Full CAPN12 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 182
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 2
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
Predictors lean, ClinVar uncertain 89
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- CAPN12 p.Ala242Thr Uncertain significance Single submitter
- CAPN12 p.Ala37Glu Uncertain significance Single submitter
- CAPN12 p.Ala470Val Uncertain significance Single submitter
- CAPN12 p.Arg218Ser Uncertain significance Single submitter
- CAPN12 p.Arg229His Uncertain significance Single submitter
- CAPN12 p.Arg23Cys Uncertain significance Single submitter
- CAPN12 p.Arg23His Uncertain significance Single submitter
- CAPN12 p.Arg277Gln Uncertain significance Single submitter
- CAPN12 p.Arg280Pro Uncertain significance Single submitter
- CAPN12 p.Arg300Leu Uncertain significance Single submitter
- CAPN12 p.Arg413Leu Uncertain significance Single submitter
- CAPN12 p.Arg480Cys Uncertain significance Single submitter
- CAPN12 p.Arg480Leu Uncertain significance Single submitter
- CAPN12 p.Arg491Cys Uncertain significance Single submitter
- CAPN12 p.Arg492Ser Uncertain significance Single submitter
- CAPN12 p.Arg518Ser Uncertain significance Single submitter
- CAPN12 p.Arg669Gln Uncertain significance Single submitter
- CAPN12 p.Arg669Gly Uncertain significance Single submitter
- CAPN12 p.Arg672Gly Uncertain significance Single submitter
- CAPN12 p.Arg672His Uncertain significance Single submitter
- CAPN12 p.Arg674Cys Uncertain significance Single submitter
- CAPN12 p.Arg674His Uncertain significance Single submitter
- CAPN12 p.Arg679Gln Uncertain significance Single submitter
- CAPN12 p.Arg77Lys Uncertain significance Single submitter
- CAPN12 p.Asn658His Uncertain significance Single submitter
- CAPN12 p.Asp14Val Uncertain significance Single submitter
- CAPN12 p.Asp318His Uncertain significance Single submitter
- CAPN12 p.Asp464Ala Uncertain significance Single submitter
- CAPN12 p.Asp488Asn Uncertain significance Single submitter
- CAPN12 p.Asp531Asn Uncertain significance Single submitter
- CAPN12 p.Asp61Glu Uncertain significance Single submitter
- CAPN12 p.Asp699Ala Uncertain significance Single submitter
- CAPN12 p.Asp699Glu Uncertain significance Single submitter
- CAPN12 p.Cys287Tyr Uncertain significance Single submitter
- CAPN12 p.Cys597Arg Uncertain significance Single submitter
- CAPN12 p.Gln172Arg Uncertain significance Single submitter
- CAPN12 p.Gln557Glu Uncertain significance Single submitter
- CAPN12 p.Gln662His Uncertain significance Single submitter
- CAPN12 p.Glu175Lys Uncertain significance Single submitter
- CAPN12 p.Glu213Lys Uncertain significance Single submitter
- CAPN12 p.Glu320Lys Uncertain significance Single submitter
- CAPN12 p.Glu549Ala Uncertain significance Single submitter
- CAPN12 p.Glu563Gly Uncertain significance Single submitter
- CAPN12 p.Glu634Gly Uncertain significance Single submitter
- CAPN12 p.Gly18Glu Uncertain significance Single submitter
- CAPN12 p.Gly20Arg Uncertain significance Single submitter
- CAPN12 p.Gly210Ala Uncertain significance Single submitter
- CAPN12 p.Gly22Glu Uncertain significance Single submitter
- CAPN12 p.Gly292Glu Uncertain significance Single submitter
- CAPN12 p.Gly351Arg Uncertain significance Single submitter
- CAPN12 p.Gly406Asp Uncertain significance Single submitter
- CAPN12 p.Gly411Arg Uncertain significance Single submitter
- CAPN12 p.Gly419Ala Uncertain significance Single submitter
- CAPN12 p.Gly419Ser Uncertain significance Single submitter
- CAPN12 p.Gly593Arg Uncertain significance Single submitter
- CAPN12 p.Gly59Val Uncertain significance Single submitter
- CAPN12 p.His469Pro Uncertain significance Single submitter
- CAPN12 p.His508Tyr Uncertain significance Single submitter
- CAPN12 p.His525Gln Uncertain significance Single submitter
- CAPN12 p.His655Tyr Uncertain significance Single submitter
- CAPN12 p.His693Tyr Uncertain significance Single submitter
- CAPN12 p.Ile455Ser Uncertain significance Single submitter
- CAPN12 p.Ile577Asn Uncertain significance Single submitter
- CAPN12 p.Leu26His Uncertain significance Single submitter
- CAPN12 p.Leu279Pro Uncertain significance Single submitter
- CAPN12 p.Leu462Phe Uncertain significance Single submitter
- CAPN12 p.Lys164Gln Uncertain significance Single submitter
- CAPN12 p.Lys275Thr Uncertain significance Single submitter
- CAPN12 p.Met92Ile Uncertain significance Single submitter
-
CAPN12 p.Phe139Val
Uncertain significance
Single submitter
CAPN12-related disorder
- CAPN12 p.Phe141Leu Uncertain significance Single submitter
- CAPN12 p.Phe204Ser Uncertain significance Single submitter
- CAPN12 p.Phe515Leu Uncertain significance Single submitter
- CAPN12 p.Pro415Ser Uncertain significance Single submitter
- CAPN12 p.Pro504Leu Uncertain significance Single submitter
- CAPN12 p.Ser341Gly Uncertain significance Single submitter
- CAPN12 p.Ser666Thr Uncertain significance Single submitter
- CAPN12 p.Thr421Met Uncertain significance Single submitter
- CAPN12 p.Trp149Arg Uncertain significance Single submitter
- CAPN12 p.Trp294Cys Uncertain significance Single submitter
- CAPN12 p.Trp404Cys Uncertain significance Single submitter
- CAPN12 p.Tyr192Cys Uncertain significance Single submitter
- CAPN12 p.Val124Met Uncertain significance Single submitter
- CAPN12 p.Val13Ala Uncertain significance Single submitter
- CAPN12 p.Val238Met Uncertain significance Single submitter
- CAPN12 p.Val426Ala Uncertain significance Single submitter
- CAPN12 p.Val533Met Uncertain significance Single submitter
- CAPN12 p.Val715Leu Uncertain significance Single submitter
-
CAPN12 p.Trp363Arg
Uncertain significance
No assertion criteria
CAPN12-related disorder
Predictors split 91
The independent predictors disagree with each other — read with care.
- CAPN12 p.Thr334Ala Benign Multiple submitters
- CAPN12 p.Ala112Thr Uncertain significance Single submitter
- CAPN12 p.Ala136Thr Uncertain significance Single submitter
- CAPN12 p.Ala240Thr Uncertain significance Single submitter
- CAPN12 p.Ala651Val Uncertain significance Single submitter
- CAPN12 p.Arg123Trp Uncertain significance Single submitter
- CAPN12 p.Arg161Cys Uncertain significance Single submitter
- CAPN12 p.Arg169Cys Uncertain significance Single submitter
- CAPN12 p.Arg173Trp Uncertain significance Single submitter
- CAPN12 p.Arg277Gly Uncertain significance Single submitter
- CAPN12 p.Arg280Gln Uncertain significance Single submitter
- CAPN12 p.Arg282Gln Uncertain significance Single submitter
- CAPN12 p.Arg28Trp Uncertain significance Single submitter
- CAPN12 p.Arg300Cys Uncertain significance Single submitter
- CAPN12 p.Arg309Cys Uncertain significance Single submitter
- CAPN12 p.Arg362Cys Uncertain significance Single submitter
- CAPN12 p.Arg36Trp Uncertain significance Single submitter
- CAPN12 p.Arg420Cys Uncertain significance Single submitter
- CAPN12 p.Arg420His Uncertain significance Single submitter
- CAPN12 p.Arg435Trp Uncertain significance Single submitter
- CAPN12 p.Arg480Pro Uncertain significance Single submitter
- CAPN12 p.Arg518Cys Uncertain significance Single submitter
- CAPN12 p.Arg523Cys Uncertain significance Single submitter
- CAPN12 p.Arg646Lys Uncertain significance Single submitter
- CAPN12 p.Arg667His Uncertain significance Single submitter
- CAPN12 p.Arg679Leu Uncertain significance Single submitter
- CAPN12 p.Arg679Trp Uncertain significance Single submitter
- CAPN12 p.Asn658Lys Uncertain significance Single submitter
- CAPN12 p.Asp310Asn Uncertain significance Single submitter
- CAPN12 p.Asp310His Uncertain significance Single submitter
- CAPN12 p.Asp41Tyr Uncertain significance Single submitter
- CAPN12 p.Asp511Gly Uncertain significance Single submitter
- CAPN12 p.Asp511Tyr Uncertain significance Single submitter
- CAPN12 p.Glu307Lys Uncertain significance Single submitter
- CAPN12 p.Glu394Lys Uncertain significance Single submitter
- CAPN12 p.Glu457Gly Uncertain significance Single submitter
- CAPN12 p.Glu512Lys Uncertain significance Single submitter
- CAPN12 p.Glu522Lys Uncertain significance Single submitter
- CAPN12 p.Glu563Lys Uncertain significance Single submitter
- CAPN12 p.Glu678Lys Uncertain significance Single submitter
- CAPN12 p.Glu68Gly Uncertain significance Single submitter
- CAPN12 p.Gly134Val Uncertain significance Single submitter
- CAPN12 p.Gly254Ser Uncertain significance Single submitter
- CAPN12 p.Gly351Trp Likely benign Single submitter
- CAPN12 p.Gly419Cys Uncertain significance Single submitter
- CAPN12 p.Gly510Ser Uncertain significance Single submitter
- CAPN12 p.Gly59Ser Uncertain significance Single submitter
- CAPN12 p.Gly638Arg Uncertain significance Single submitter
- CAPN12 p.His686Pro Uncertain significance Single submitter
- CAPN12 p.Leu255Val Uncertain significance Single submitter
- CAPN12 p.Leu541Phe Uncertain significance Single submitter
- CAPN12 p.Leu548Val Uncertain significance Single submitter
- CAPN12 p.Lys423Asn Uncertain significance Single submitter
- CAPN12 p.Lys441Asn Uncertain significance Single submitter
- CAPN12 p.Lys86Met Uncertain significance Single submitter
- CAPN12 p.Met166Thr Uncertain significance Single submitter
- CAPN12 p.Met195Ile Uncertain significance Single submitter
- CAPN12 p.Met323Ile Uncertain significance Single submitter
- CAPN12 p.Phe632Leu Uncertain significance Single submitter
- CAPN12 p.Pro118Ser Uncertain significance Single submitter
- CAPN12 p.Pro126Leu Uncertain significance Single submitter
- CAPN12 p.Pro299Leu Uncertain significance Single submitter
- CAPN12 p.Pro342Ala Uncertain significance Single submitter
- CAPN12 p.Pro456Leu Uncertain significance Single submitter
- CAPN12 p.Pro49Thr Uncertain significance Single submitter
- CAPN12 p.Pro589Leu Uncertain significance Single submitter
- CAPN12 p.Ser170Leu Uncertain significance Single submitter
- CAPN12 p.Ser226Phe Uncertain significance Single submitter
- CAPN12 p.Ser244Gly Uncertain significance Single submitter
- CAPN12 p.Ser295Gly Uncertain significance Single submitter
- CAPN12 p.Ser341Arg Uncertain significance Single submitter
- CAPN12 p.Ser42Leu Uncertain significance Single submitter
- CAPN12 p.Ser481Leu Uncertain significance Single submitter
- CAPN12 p.Ser505Gly Uncertain significance Single submitter
- CAPN12 p.Ser67Ala Uncertain significance Single submitter
- CAPN12 p.Ser67Leu Uncertain significance Single submitter
- CAPN12 p.Thr358Ile Uncertain significance Single submitter
- CAPN12 p.Tyr249Asn Uncertain significance Single submitter
- CAPN12 p.Tyr643Asp Uncertain significance Single submitter
- CAPN12 p.Val138Gly Uncertain significance Single submitter
- CAPN12 p.Val153Met Uncertain significance Single submitter
- CAPN12 p.Val160Met Uncertain significance Single submitter
- CAPN12 p.Val356Ile Likely benign Single submitter
- CAPN12 p.Val489Leu Uncertain significance Single submitter
- CAPN12 p.Val528Met Uncertain significance Single submitter
- CAPN12 p.Val8Gly Uncertain significance Single submitter
-
CAPN12 p.Ala478Gly
Benign
No assertion criteria
CAPN12-related disorder
-
CAPN12 p.Arg667Cys
Benign
No assertion criteria
CAPN12-related disorder
-
CAPN12 p.Gly190Ser
Benign
No assertion criteria
CAPN12-related disorder
-
CAPN12 p.His469Tyr
Benign
No assertion criteria
CAPN12-related disorder
-
CAPN12 p.Val211Met
Likely benign
No assertion criteria
CAPN12-related disorder
All CAPN12 variants
Conflicting classifications of pathogenicity 2
- p.Arg28Gln Single submitter ⚠
- p.Asn174Asp Single submitter ⚠
Benign 56
- c.1362+80A>G Multiple submitters
- c.1374+85A>C Multiple submitters
- c.1583+12G>A Multiple submitters
- c.1584-39C>T Multiple submitters
- c.1686+152A>G Multiple submitters
- c.1745-17C>T Multiple submitters
- c.1815+25G>A Multiple submitters
- c.1815+57C>T Multiple submitters
- c.1957+253C>G Multiple submitters
- c.1958-84T>A Multiple submitters
- c.237+58G>A Multiple submitters
- c.308-53C>T Multiple submitters
- c.308-89G>A Multiple submitters
- c.561-175C>G Multiple submitters
- c.730-278C>T Multiple submitters
- c.730-28T>C Multiple submitters
- c.-298T>C Multiple submitters
- c.-74A>G Multiple submitters
- c.*197T>C Multiple submitters
- p.Arg437= Multiple submitters
- p.Cys287Arg Multiple submitters
- p.Gly352= Multiple submitters
- p.His469Arg Multiple submitters
- p.Ile44= Multiple submitters
- p.Leu224= Multiple submitters
- p.Lys423= Multiple submitters
- p.Phe629= Multiple submitters
- p.Phe680= Multiple submitters
- p.Ser535= Multiple submitters
- p.Thr334Ala Multiple submitters ⚠
- p.Thr421= Multiple submitters
- c.1362+144del Single submitter
- c.1362+184_1362+191del Single submitter
- c.1362+225_1362+232dup Single submitter
- c.1362+268_1362+269del Single submitter
- c.2074+22_2074+31del Single submitter
- c.2134-6C>T Single submitter
- c.237+197_237+198insGGGGACCTGGACTCCTGGGTCTGAGGGAGGAAGGCTGG Single submitter
- c.237+207T>C Single submitter
- c.238-227A>C Single submitter
- c.307+161_307+162dup Single submitter
- c.307+161_307+171dup Single submitter
- c.307+161dup Single submitter
- c.426+67dup Single submitter
- c.427-198C>T Single submitter
- c.560+177dup Single submitter
- c.561-5C>T Single submitter
- c.965+43_965+44dup Single submitter
- c.1957+6dup No assertion criteria CAPN12-related disorder
- p.Ala110= No assertion criteria CAPN12-related disorder
- p.Ala478= No assertion criteria CAPN12-related disorder
- p.Ala478Gly No assertion criteria CAPN12-related disorder ⚠
- p.Arg667Cys No assertion criteria CAPN12-related disorder ⚠
- p.Gly190Ser No assertion criteria CAPN12-related disorder ⚠
- p.Gly510= No assertion criteria CAPN12-related disorder
- p.His469Tyr No assertion criteria CAPN12-related disorder ⚠
Likely benign 36
- p.His693= Multiple submitters
- c.1374+76_1374+96del Single submitter
- c.1879-89A>G Single submitter
- c.238-218T>C Single submitter
- c.426+81del Single submitter
- c.560+190del Single submitter
- c.-69A>G Single submitter
- c.*303A>T Single submitter
- p.Ala410= Single submitter
- p.Arg326Gln Single submitter
- p.Arg437Cys Single submitter
- p.Asn220fs Single submitter
- p.Asn567Ser Single submitter
- p.Gln554Ter Single submitter
- p.Glu400Asp Single submitter
- p.Gly22Arg Single submitter
- p.Gly239= Single submitter
- p.Gly351Trp Single submitter ⚠
- p.His686= Single submitter
- p.Leu12= Single submitter
- p.Leu24= Single submitter
- p.Val356Ile Single submitter ⚠
- c.1583+9C>T No assertion criteria CAPN12-related disorder
- c.1879-3C>T No assertion criteria CAPN12-related disorder
- c.561-7C>T No assertion criteria CAPN12-related disorder
- c.*7C>T No assertion criteria CAPN12-related disorder
- p.Ala409= No assertion criteria CAPN12-related disorder
- p.Ala412= No assertion criteria CAPN12-related disorder
- p.Asp532= No assertion criteria CAPN12-related disorder
- p.Gly414= No assertion criteria CAPN12-related disorder
- p.Gly419= No assertion criteria CAPN12-related disorder
- p.Ile592= No assertion criteria CAPN12-related disorder
- p.Phe453= No assertion criteria CAPN12-related disorder
- p.Phe520= No assertion criteria CAPN12-related disorder
- p.Thr447_Val448insTyrLeuThr No assertion criteria CAPN12-related disorder
- p.Val211Met No assertion criteria CAPN12-related disorder ⚠
Uncertain significance 175
- c.1627-6C>A Single submitter CAPN12-related disorder
- p.Ala112Thr Single submitter ⚠
- p.Ala136Thr Single submitter ⚠
- p.Ala240Thr Single submitter ⚠
- p.Ala242Thr Single submitter ⚠
- p.Ala37Glu Single submitter ⚠
- p.Ala470Val Single submitter ⚠
- p.Ala651Val Single submitter ⚠
- p.Arg123Trp Single submitter ⚠
- p.Arg161Cys Single submitter ⚠
- p.Arg169Cys Single submitter ⚠
- p.Arg173Trp Single submitter ⚠
- p.Arg218Ser Single submitter ⚠
- p.Arg229His Single submitter ⚠
- p.Arg23Cys Single submitter ⚠
- p.Arg23His Single submitter ⚠
- p.Arg277Gln Single submitter ⚠
- p.Arg277Gly Single submitter ⚠
- p.Arg280Gln Single submitter ⚠
- p.Arg280Pro Single submitter ⚠
- p.Arg282Gln Single submitter ⚠
- p.Arg28Trp Single submitter ⚠
- p.Arg300Cys Single submitter ⚠
- p.Arg300Leu Single submitter ⚠
- p.Arg309Cys Single submitter ⚠
- p.Arg362Cys Single submitter ⚠
- p.Arg36Trp Single submitter ⚠
- p.Arg413Leu Single submitter ⚠
- p.Arg420Cys Single submitter ⚠
- p.Arg420His Single submitter ⚠
- p.Arg435Trp Single submitter ⚠
- p.Arg480Cys Single submitter ⚠
- p.Arg480Leu Single submitter ⚠
- p.Arg480Pro Single submitter ⚠
- p.Arg491Cys Single submitter ⚠
- p.Arg492Ser Single submitter ⚠
- p.Arg518Cys Single submitter ⚠
- p.Arg518Ser Single submitter ⚠
- p.Arg523Cys Single submitter ⚠
- p.Arg646Lys Single submitter ⚠
- p.Arg667His Single submitter ⚠
- p.Arg669Gln Single submitter ⚠
- p.Arg669Gly Single submitter ⚠
- p.Arg672Gly Single submitter ⚠
- p.Arg672His Single submitter ⚠
- p.Arg674Cys Single submitter ⚠
- p.Arg674His Single submitter ⚠
- p.Arg679Gln Single submitter ⚠
- p.Arg679Leu Single submitter ⚠
- p.Arg679Trp Single submitter ⚠
- p.Arg77Lys Single submitter ⚠
- p.Asn658His Single submitter ⚠
- p.Asn658Lys Single submitter ⚠
- p.Asp14Val Single submitter ⚠
- p.Asp310Asn Single submitter ⚠
- p.Asp310His Single submitter ⚠
- p.Asp318His Single submitter ⚠
- p.Asp41Tyr Single submitter ⚠
- p.Asp464Ala Single submitter ⚠
- p.Asp488Asn Single submitter ⚠
- p.Asp511Gly Single submitter ⚠
- p.Asp511Tyr Single submitter ⚠
- p.Asp531Asn Single submitter ⚠
- p.Asp61Glu Single submitter ⚠
- p.Asp699Ala Single submitter ⚠
- p.Asp699Glu Single submitter ⚠
- p.Cys287Tyr Single submitter ⚠
- p.Cys597Arg Single submitter ⚠
- p.Gln172Arg Single submitter ⚠
- p.Gln172Ter Single submitter
- p.Gln557Glu Single submitter ⚠
- p.Gln626Ter Single submitter CAPN12-related disorder
- p.Gln662His Single submitter ⚠
- p.Glu175Lys Single submitter ⚠
- p.Glu213Lys Single submitter ⚠
- p.Glu307Lys Single submitter ⚠
- p.Glu320Lys Single submitter ⚠
- p.Glu394Lys Single submitter ⚠
- p.Glu457Gly Single submitter ⚠
- p.Glu512Lys Single submitter ⚠
- p.Glu522Lys Single submitter ⚠
- p.Glu549Ala Single submitter ⚠
- p.Glu563Gly Single submitter ⚠
- p.Glu563Lys Single submitter ⚠
- p.Glu634Gly Single submitter ⚠
- p.Glu678Lys Single submitter ⚠
- p.Glu68Gly Single submitter ⚠
- p.Gly134Val Single submitter ⚠
- p.Gly18Glu Single submitter ⚠
- p.Gly20Arg Single submitter ⚠
- p.Gly210Ala Single submitter ⚠
- p.Gly22Glu Single submitter ⚠
- p.Gly254Ser Single submitter ⚠
- p.Gly292Glu Single submitter ⚠
- p.Gly351Arg Single submitter ⚠
- p.Gly406Asp Single submitter ⚠
- p.Gly411Arg Single submitter ⚠
- p.Gly419Ala Single submitter ⚠
- p.Gly419Cys Single submitter ⚠
- p.Gly419Ser Single submitter ⚠
- p.Gly510Ser Single submitter ⚠
- p.Gly593Arg Single submitter ⚠
- p.Gly59Ser Single submitter ⚠
- p.Gly59Val Single submitter ⚠
- p.Gly638Arg Single submitter ⚠
- p.His469Pro Single submitter ⚠
- p.His508Tyr Single submitter ⚠
- p.His525Gln Single submitter ⚠
- p.His655Tyr Single submitter ⚠
- p.His686Pro Single submitter ⚠
- p.His693Tyr Single submitter ⚠
- p.Ile455Ser Single submitter ⚠
- p.Ile577Asn Single submitter ⚠
- p.Leu255Val Single submitter ⚠
- p.Leu26His Single submitter ⚠
- p.Leu279Pro Single submitter ⚠
- p.Leu462Phe Single submitter ⚠
- p.Leu541Phe Single submitter ⚠
- p.Leu548Val Single submitter ⚠
- p.Lys164Gln Single submitter ⚠
- p.Lys275Thr Single submitter ⚠
- p.Lys423Asn Single submitter ⚠
- p.Lys441Asn Single submitter ⚠
- p.Lys86Met Single submitter ⚠
- p.Met166Thr Single submitter ⚠
- p.Met195Ile Single submitter ⚠
- p.Met323Ile Single submitter ⚠
- p.Met92Ile Single submitter ⚠
- p.Phe139Val Single submitter CAPN12-related disorder ⚠
- p.Phe141Leu Single submitter ⚠
- p.Phe204Ser Single submitter ⚠
- p.Phe515Leu Single submitter ⚠
- p.Phe632Leu Single submitter ⚠
- p.Pro118Ser Single submitter ⚠
- p.Pro126Leu Single submitter ⚠
- p.Pro299Leu Single submitter ⚠
- p.Pro342Ala Single submitter ⚠
- p.Pro415Ser Single submitter ⚠
- p.Pro456Leu Single submitter ⚠
- p.Pro49Thr Single submitter ⚠
- p.Pro504Leu Single submitter ⚠
- p.Pro589Leu Single submitter ⚠
- p.Ser170Leu Single submitter ⚠
- p.Ser226Phe Single submitter ⚠
- p.Ser244Gly Single submitter ⚠
- p.Ser295Gly Single submitter ⚠
- p.Ser341Arg Single submitter ⚠
- p.Ser341Gly Single submitter ⚠
- p.Ser42Leu Single submitter ⚠
- p.Ser481Leu Single submitter ⚠
- p.Ser505Gly Single submitter ⚠
- p.Ser666Thr Single submitter ⚠
- p.Ser67Ala Single submitter ⚠
- p.Ser67Leu Single submitter ⚠
- p.Thr358Ile Single submitter ⚠
- p.Thr421Met Single submitter ⚠
- p.Trp149Arg Single submitter ⚠
- p.Trp294Cys Single submitter ⚠
- p.Trp404Cys Single submitter ⚠
- p.Tyr192Cys Single submitter ⚠
- p.Tyr249Asn Single submitter ⚠
- p.Tyr643Asp Single submitter ⚠
- p.Val124Met Single submitter ⚠
- p.Val138Gly Single submitter ⚠
- p.Val13Ala Single submitter ⚠
- p.Val153Met Single submitter ⚠
- p.Val160Met Single submitter ⚠
- p.Val238Met Single submitter ⚠
- p.Val426Ala Single submitter ⚠
- p.Val489Leu Single submitter ⚠
- p.Val528Met Single submitter ⚠
- p.Val533Met Single submitter ⚠
- p.Val715Leu Single submitter ⚠
- p.Val8Gly Single submitter ⚠
- p.Trp363Arg No assertion criteria CAPN12-related disorder ⚠