CAPN15 — 369 ClinVar variants
All ClinVar germline CAPN15 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 259 flagged for review →
5 Pathogenic · 3 Likely pathogenic · 2 Conflicting · 10 Benign · 89 Likely benign · 260 Uncertain significance
Full CAPN15 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 259
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 143
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
-
CAPN15 p.Cys363Arg
Uncertain significance
Multiple submitters
oculogastrointestinal-neurodevelopmental syndrome
- CAPN15 p.Val489Met Uncertain significance Multiple submitters
- CAPN15 p.Val884Ile Uncertain significance Multiple submitters
- CAPN15 p.Ala1041Thr Uncertain significance Single submitter
- CAPN15 p.Ala141Glu Uncertain significance Single submitter
- CAPN15 p.Ala141Val Uncertain significance Single submitter
- CAPN15 p.Ala209Ser Uncertain significance Single submitter
- CAPN15 p.Ala211Thr Uncertain significance Single submitter
- CAPN15 p.Ala263Ser Uncertain significance Single submitter
- CAPN15 p.Ala274Ser Uncertain significance Single submitter
- CAPN15 p.Ala274Val Uncertain significance Single submitter
- CAPN15 p.Ala287Glu Uncertain significance Single submitter
- CAPN15 p.Ala312Pro Uncertain significance Single submitter
- CAPN15 p.Ala334Thr Uncertain significance Single submitter
- CAPN15 p.Ala433Thr Uncertain significance Single submitter
- CAPN15 p.Ala504Val Uncertain significance Single submitter
- CAPN15 p.Ala51Ser Uncertain significance Single submitter
- CAPN15 p.Ala557Thr Uncertain significance Single submitter
- CAPN15 p.Ala559Val Uncertain significance Single submitter
- CAPN15 p.Ala562Val Uncertain significance Single submitter
- CAPN15 p.Ala615Ser Uncertain significance Single submitter
- CAPN15 p.Ala628Val Uncertain significance Single submitter
- CAPN15 p.Ala77Val Uncertain significance Single submitter
- CAPN15 p.Ala811Thr Uncertain significance Single submitter
- CAPN15 p.Ala817Val Uncertain significance Single submitter
- CAPN15 p.Ala824Thr Uncertain significance Single submitter
- CAPN15 p.Ala829Thr Uncertain significance Single submitter
- CAPN15 p.Ala983Val Uncertain significance Single submitter
- CAPN15 p.Arg1014His Uncertain significance Single submitter
- CAPN15 p.Arg228Lys Uncertain significance Single submitter
- CAPN15 p.Arg309Pro Uncertain significance Single submitter
- CAPN15 p.Arg40Gln Uncertain significance Single submitter
- CAPN15 p.Arg412His Uncertain significance Single submitter
- CAPN15 p.Arg445Gln Uncertain significance Single submitter
- CAPN15 p.Arg570Gln Uncertain significance Single submitter
- CAPN15 p.Arg586Gln Uncertain significance Single submitter
- CAPN15 p.Arg643His Uncertain significance Single submitter
- CAPN15 p.Arg669His Uncertain significance Single submitter
- CAPN15 p.Arg800Gln Uncertain significance Single submitter
- CAPN15 p.Arg823Gln Uncertain significance Single submitter
- CAPN15 p.Arg938Lys Uncertain significance Single submitter
- CAPN15 p.Arg966Trp Uncertain significance Single submitter
- CAPN15 p.Asp1006Asn Uncertain significance Single submitter
- CAPN15 p.Asp327Asn Uncertain significance Single submitter
- CAPN15 p.Asp34Asn Uncertain significance Single submitter
- CAPN15 p.Asp676Val Uncertain significance Single submitter
- CAPN15 p.Asp723Asn Uncertain significance Single submitter
- CAPN15 p.Asp795Gly Uncertain significance Single submitter
- CAPN15 p.Cys123Phe Uncertain significance Single submitter
- CAPN15 p.Cys346Arg Uncertain significance Single submitter
- CAPN15 p.Cys363Phe Uncertain significance Single submitter
- CAPN15 p.Cys523Phe Uncertain significance Single submitter
- CAPN15 p.Cys588Arg Uncertain significance Single submitter
- CAPN15 p.Cys64Tyr Uncertain significance Single submitter
- CAPN15 p.Gln254Lys Uncertain significance Single submitter
- CAPN15 p.Gln254Pro Uncertain significance Single submitter
- CAPN15 p.Gln403Arg Uncertain significance Single submitter
- CAPN15 p.Gln46Glu Uncertain significance Single submitter
- CAPN15 p.Gln514Arg Uncertain significance Single submitter
- CAPN15 p.Glu27Lys Uncertain significance Single submitter
- CAPN15 p.Glu467Lys Uncertain significance Single submitter
- CAPN15 p.Glu626Lys Uncertain significance Single submitter
- CAPN15 p.Glu751Lys Uncertain significance Single submitter
- CAPN15 p.Glu968Lys Uncertain significance Single submitter
- CAPN15 p.Gly1082Arg Uncertain significance Single submitter
- CAPN15 p.Gly167Arg Uncertain significance Single submitter
-
CAPN15 p.Gly19Cys
Uncertain significance
Single submitter
oculogastrointestinal-neurodevelopmental syndrome
- CAPN15 p.Gly19Ser Uncertain significance Single submitter
- CAPN15 p.Gly277Ser Uncertain significance Single submitter
- CAPN15 p.Gly292Ser Uncertain significance Single submitter
- CAPN15 p.Gly313Asp Uncertain significance Single submitter
- CAPN15 p.Gly326Arg Uncertain significance Single submitter
- CAPN15 p.Gly326Val Uncertain significance Single submitter
- CAPN15 p.Gly414Arg Uncertain significance Single submitter
- CAPN15 p.Gly496Glu Uncertain significance Single submitter
- CAPN15 p.Gly5Arg Uncertain significance Single submitter
- CAPN15 p.Gly647Ala Uncertain significance Single submitter
- CAPN15 p.Gly814Glu Uncertain significance Single submitter
- CAPN15 p.Gly858Ser Uncertain significance Single submitter
- CAPN15 p.Gly860Ser Uncertain significance Single submitter
- CAPN15 p.Gly861Ser Uncertain significance Single submitter
- CAPN15 p.Gly919Arg Uncertain significance Single submitter
- CAPN15 p.Gly964Arg Uncertain significance Single submitter
- CAPN15 p.His31Asn Uncertain significance Single submitter
- CAPN15 p.His758Gln Uncertain significance Single submitter
- CAPN15 p.Ile625Met Uncertain significance Single submitter
-
CAPN15 p.Ile956Thr
Uncertain significance
Single submitter
oculogastrointestinal-neurodevelopmental syndrome
- CAPN15 p.Leu239Arg Uncertain significance Single submitter
- CAPN15 p.Leu239Val Uncertain significance Single submitter
- CAPN15 p.Leu368Pro Uncertain significance Single submitter
- CAPN15 p.Leu711Val Uncertain significance Single submitter
- CAPN15 p.Leu732Pro Uncertain significance Single submitter
- CAPN15 p.Leu735Phe Uncertain significance Single submitter
- CAPN15 p.Leu818Phe Uncertain significance Single submitter
- CAPN15 p.Leu959Val Uncertain significance Single submitter
- CAPN15 p.Lys877Asn Uncertain significance Single submitter
- CAPN15 p.Pro1072Gln Uncertain significance Single submitter
- CAPN15 p.Pro1072Leu Uncertain significance Single submitter
- CAPN15 p.Pro1072Ser Uncertain significance Single submitter
- CAPN15 p.Pro185Leu Uncertain significance Single submitter
- CAPN15 p.Pro190Leu Uncertain significance Single submitter
- CAPN15 p.Pro205Ser Uncertain significance Single submitter
- CAPN15 p.Pro227Ser Uncertain significance Single submitter
- CAPN15 p.Pro230Leu Uncertain significance Single submitter
- CAPN15 p.Pro258Leu Uncertain significance Single submitter
- CAPN15 p.Pro265Ser Uncertain significance Single submitter
- CAPN15 p.Pro888His Uncertain significance Single submitter
- CAPN15 p.Pro88Ser Uncertain significance Single submitter
- CAPN15 p.Pro903Leu Uncertain significance Single submitter
- CAPN15 p.Pro904Ser Uncertain significance Single submitter
- CAPN15 p.Pro925Ser Uncertain significance Single submitter
- CAPN15 p.Pro944Ser Uncertain significance Single submitter
- CAPN15 p.Ser237Phe Uncertain significance Single submitter
- CAPN15 p.Ser361Leu Uncertain significance Single submitter
- CAPN15 p.Ser390Cys Uncertain significance Single submitter
- CAPN15 p.Ser487Thr Uncertain significance Single submitter
- CAPN15 p.Ser492Thr Uncertain significance Single submitter
-
CAPN15 p.Ser613Leu
Uncertain significance
Single submitter
oculogastrointestinal-neurodevelopmental syndrome
- CAPN15 p.Ser706Leu Uncertain significance Single submitter
- CAPN15 p.Ser769Asn Uncertain significance Single submitter
- CAPN15 p.Ser810Gly Uncertain significance Single submitter
- CAPN15 p.Ser838Leu Uncertain significance Single submitter
- CAPN15 p.Ser917Leu Uncertain significance Single submitter
- CAPN15 p.Ser917Pro Uncertain significance Single submitter
- CAPN15 p.Ser924Pro Uncertain significance Single submitter
- CAPN15 p.Thr1063Lys Uncertain significance Single submitter
- CAPN15 p.Thr328Ile Uncertain significance Single submitter
- CAPN15 p.Thr332Pro Uncertain significance Single submitter
- CAPN15 p.Thr437Ala Uncertain significance Single submitter
- CAPN15 p.Thr574Met Uncertain significance Single submitter
- CAPN15 p.Thr592Arg Uncertain significance Single submitter
- CAPN15 p.Thr819Pro Uncertain significance Single submitter
- CAPN15 p.Trp901Arg Uncertain significance Single submitter
- CAPN15 p.Val188Ala Uncertain significance Single submitter
- CAPN15 p.Val244Leu Uncertain significance Single submitter
- CAPN15 p.Val459Met Uncertain significance Single submitter
- CAPN15 p.Val525Ile Uncertain significance Single submitter
- CAPN15 p.Val787Met Uncertain significance Single submitter
- CAPN15 p.Val82Leu Uncertain significance Single submitter
- CAPN15 p.Val86Leu Uncertain significance Single submitter
- CAPN15 p.Val940Ala Uncertain significance Single submitter
- CAPN15 p.Val942Met Uncertain significance Single submitter
-
CAPN15 p.Thr950Ala
Uncertain significance
No assertion criteria
CAPN15-related disorder
Predictors split 116
The independent predictors disagree with each other — read with care.
-
CAPN15 p.Arg867Cys
Uncertain significance
Multiple submitters
oculogastrointestinal-neurodevelopmental syndrome
- CAPN15 p.Arg867His Uncertain significance Multiple submitters
-
CAPN15 p.Glu776Ala
Uncertain significance
Multiple submitters
oculogastrointestinal-neurodevelopmental syndrome
-
CAPN15 p.Val841Met
Uncertain significance
Multiple submitters
oculogastrointestinal-neurodevelopmental syndrome
- CAPN15 p.Ala1078Thr Uncertain significance Single submitter
- CAPN15 p.Ala357Val Uncertain significance Single submitter
- CAPN15 p.Ala434Thr Uncertain significance Single submitter
- CAPN15 p.Ala557Ser Uncertain significance Single submitter
- CAPN15 p.Ala579Val Uncertain significance Single submitter
- CAPN15 p.Ala615Val Uncertain significance Single submitter
- CAPN15 p.Ala644Thr Uncertain significance Single submitter
- CAPN15 p.Ala688Val Uncertain significance Single submitter
- CAPN15 p.Ala809Val Uncertain significance Single submitter
- CAPN15 p.Ala875Thr Uncertain significance Single submitter
- CAPN15 p.Ala923Val Uncertain significance Single submitter
- CAPN15 p.Arg1018Cys Uncertain significance Single submitter
- CAPN15 p.Arg21His Uncertain significance Single submitter
- CAPN15 p.Arg248Gln Uncertain significance Single submitter
- CAPN15 p.Arg249Leu Uncertain significance Single submitter
- CAPN15 p.Arg285His Uncertain significance Single submitter
- CAPN15 p.Arg294Gln Uncertain significance Single submitter
- CAPN15 p.Arg309Cys Uncertain significance Single submitter
- CAPN15 p.Arg398Trp Uncertain significance Single submitter
- CAPN15 p.Arg407His Uncertain significance Single submitter
- CAPN15 p.Arg412Cys Uncertain significance Single submitter
- CAPN15 p.Arg428Trp Uncertain significance Single submitter
- CAPN15 p.Arg445Trp Uncertain significance Single submitter
-
CAPN15 p.Arg446Trp
Uncertain significance
Single submitter
oculogastrointestinal-neurodevelopmental syndrome
- CAPN15 p.Arg482Gln Uncertain significance Single submitter
-
CAPN15 p.Arg482Gly
Uncertain significance
Single submitter
oculogastrointestinal-neurodevelopmental syndrome
- CAPN15 p.Arg52Cys Uncertain significance Single submitter
- CAPN15 p.Arg52His Uncertain significance Single submitter
- CAPN15 p.Arg52Leu Uncertain significance Single submitter
- CAPN15 p.Arg540Gln Uncertain significance Single submitter
- CAPN15 p.Arg669Cys Uncertain significance Single submitter
- CAPN15 p.Arg725Gln Uncertain significance Single submitter
- CAPN15 p.Arg734Gln Uncertain significance Single submitter
- CAPN15 p.Arg760Cys Uncertain significance Single submitter
- CAPN15 p.Arg760His Uncertain significance Single submitter
- CAPN15 p.Arg837Cys Uncertain significance Single submitter
- CAPN15 p.Arg837His Uncertain significance Single submitter
- CAPN15 p.Arg963Cys Uncertain significance Single submitter
- CAPN15 p.Arg970His Uncertain significance Single submitter
- CAPN15 p.Asn745Asp Uncertain significance Single submitter
- CAPN15 p.Asp383Tyr Uncertain significance Single submitter
- CAPN15 p.Asp883Asn Uncertain significance Single submitter
- CAPN15 p.Asp954Asn Uncertain significance Single submitter
- CAPN15 p.Glu128Asp Uncertain significance Single submitter
- CAPN15 p.Glu133Lys Uncertain significance Single submitter
- CAPN15 p.Glu137Lys Uncertain significance Single submitter
- CAPN15 p.Glu138Lys Likely benign Single submitter
- CAPN15 p.Glu223Lys Uncertain significance Single submitter
- CAPN15 p.Glu225Asp Uncertain significance Single submitter
- CAPN15 p.Glu250Lys Uncertain significance Single submitter
- CAPN15 p.Glu45Gly Uncertain significance Single submitter
- CAPN15 p.Glu961Lys Uncertain significance Single submitter
- CAPN15 p.Gly1015Ser Uncertain significance Single submitter
- CAPN15 p.Gly1079Ser Uncertain significance Single submitter
- CAPN15 p.Gly121Trp Uncertain significance Single submitter
- CAPN15 p.Gly364Ser Uncertain significance Single submitter
- CAPN15 p.Gly370Asp Uncertain significance Single submitter
- CAPN15 p.Gly496Arg Uncertain significance Single submitter
- CAPN15 p.Gly608Ser Uncertain significance Single submitter
- CAPN15 p.Gly68Ser Uncertain significance Single submitter
- CAPN15 p.Gly729Ser Uncertain significance Single submitter
- CAPN15 p.Gly814Trp Uncertain significance Single submitter
- CAPN15 p.His37Tyr Uncertain significance Single submitter
- CAPN15 p.His766Tyr Uncertain significance Single submitter
- CAPN15 p.His862Tyr Uncertain significance Single submitter
- CAPN15 p.Ile986Leu Uncertain significance Single submitter
- CAPN15 p.Leu204Phe Uncertain significance Single submitter
- CAPN15 p.Leu41Arg Uncertain significance Single submitter
- CAPN15 p.Leu440Phe Uncertain significance Single submitter
- CAPN15 p.Leu711Arg Uncertain significance Single submitter
- CAPN15 p.Lys686Asn Uncertain significance Single submitter
- CAPN15 p.Phe69Leu Uncertain significance Single submitter
- CAPN15 p.Pro1072Arg Uncertain significance Single submitter
- CAPN15 p.Pro17Leu Uncertain significance Single submitter
- CAPN15 p.Pro197Leu Uncertain significance Single submitter
- CAPN15 p.Pro200His Uncertain significance Single submitter
- CAPN15 p.Pro265Leu Uncertain significance Single submitter
- CAPN15 p.Pro267Thr Uncertain significance Single submitter
- CAPN15 p.Pro413Leu Uncertain significance Single submitter
- CAPN15 p.Pro438Arg Uncertain significance Single submitter
-
CAPN15 p.Pro494Ser
Uncertain significance
Single submitter
CAPN15-related disorder
- CAPN15 p.Pro756Leu Uncertain significance Single submitter
- CAPN15 p.Pro765Leu Uncertain significance Single submitter
- CAPN15 p.Pro81Arg Uncertain significance Single submitter
- CAPN15 p.Pro906Leu Uncertain significance Single submitter
- CAPN15 p.Pro911Leu Uncertain significance Single submitter
- CAPN15 p.Pro921Leu Uncertain significance Single submitter
- CAPN15 p.Pro928Leu Uncertain significance Single submitter
- CAPN15 p.Ser314Arg Uncertain significance Single submitter
- CAPN15 p.Ser335Arg Uncertain significance Single submitter
- CAPN15 p.Ser507Ile Uncertain significance Single submitter
- CAPN15 p.Ser665Cys Uncertain significance Single submitter
- CAPN15 p.Ser807Asn Uncertain significance Single submitter
- CAPN15 p.Ser8Phe Uncertain significance Single submitter
- CAPN15 p.Thr157Met Uncertain significance Single submitter
- CAPN15 p.Thr350Met Uncertain significance Single submitter
- CAPN15 p.Thr3Met Uncertain significance Single submitter
- CAPN15 p.Thr951Met Uncertain significance Single submitter
- CAPN15 p.Val1030Ile Uncertain significance Single submitter
- CAPN15 p.Val165Ile Uncertain significance Single submitter
- CAPN15 p.Val195Ile Uncertain significance Single submitter
- CAPN15 p.Val195Phe Uncertain significance Single submitter
- CAPN15 p.Val196Met Uncertain significance Single submitter
- CAPN15 p.Val244Met Uncertain significance Single submitter
- CAPN15 p.Val251Ala Uncertain significance Single submitter
- CAPN15 p.Val297Met Uncertain significance Single submitter
- CAPN15 p.Val408Ile Uncertain significance Single submitter
- CAPN15 p.Val43Met Uncertain significance Single submitter
- CAPN15 p.Val489Leu Uncertain significance Single submitter
- CAPN15 p.Val880Ile Uncertain significance Single submitter
- CAPN15 p.Val931Met Uncertain significance Single submitter
-
CAPN15 p.Gly969Ser
Pathogenic
No assertion criteria
oculogastrointestinal-neurodevelopmental syndrome
All CAPN15 variants
Pathogenic 5
- c.2904+1_2905-45del No assertion criteria oculogastrointestinal-neurodevelopmental syndrome
- p.Arg1028Lys No assertion criteria oculogastrointestinal-neurodevelopmental syndrome
- p.Arg800Trp No assertion criteria oculogastrointestinal-neurodevelopmental syndrome
- p.Gly969Ser No assertion criteria oculogastrointestinal-neurodevelopmental syndrome ⚠
- p.Ser720Phe No assertion criteria oculogastrointestinal-neurodevelopmental syndrome
Likely pathogenic 3
- p.Glu210Ter Single submitter oculogastrointestinal-neurodevelopmental syndrome
- p.Gly653Ser Single submitter oculogastrointestinal-neurodevelopmental syndrome
- p.Ser335fs Single submitter
Conflicting classifications of pathogenicity 2
- c.3083+5_3083+40del Single submitter oculogastrointestinal-neurodevelopmental syndrome
- p.Arg736Ter Single submitter oculogastrointestinal-neurodevelopmental syndrome
Benign 10
- c.1450-4G>A Multiple submitters
- c.2346-19G>A Multiple submitters
- c.2346-5T>C Multiple submitters
- p.Pro903= Multiple submitters
- p.Phe879= Single submitter
- p.Asp590= No assertion criteria CAPN15-related disorder
- p.Glu104= No assertion criteria CAPN15-related disorder
- p.Pro143Arg No assertion criteria CAPN15-related disorder
- p.Ser401= No assertion criteria CAPN15-related disorder
- p.Tyr935= No assertion criteria CAPN15-related disorder
Likely benign 89
- p.Thr328= Multiple submitters
- c.1449+8G>A Single submitter
- c.1842+4G>C Single submitter
- c.2345+5C>T Single submitter
- c.2904+8G>T Single submitter
- p.Ala111= Single submitter
- p.Ala140= Single submitter
- p.Ala18= Single submitter
- p.Ala191= Single submitter
- p.Ala199= Single submitter
- p.Ala263Thr Single submitter
- p.Ala362= Single submitter
- p.Ala426Thr Single submitter
- p.Ala449= Single submitter
- p.Ala449Thr Single submitter
- p.Ala531= Single submitter
- p.Ala615= Single submitter
- p.Ala74Val Single submitter
- p.Ala77= Single submitter
- p.Ala799Val Single submitter
- p.Ala829= Single submitter
- p.Ala875= Single submitter
- p.Ala92Thr Single submitter
- p.Ala996Ser Single submitter
- p.Arg407= Single submitter
- p.Arg874= Single submitter
- p.Arg963= Single submitter
- p.Asn1040= Single submitter
- p.Asn485Ser Single submitter
- p.Asp125Glu Single submitter
- p.Asp839= Single submitter
- p.Cys123Arg Single submitter
- p.Cys896= Single submitter
- p.Glu124Lys Single submitter
- p.Glu138Lys Single submitter ⚠
- p.Glu887= Single submitter
- p.Gly270Ser Single submitter
- p.Gly318= Single submitter
- p.Gly468= Single submitter
- p.Gly697= Single submitter
- p.Gly761= Single submitter
- p.Gly778= Single submitter
- p.His380Arg Single submitter
- p.His458= Single submitter
- p.His862Arg Single submitter
- p.Lys131Gln Single submitter
- p.Lys131Glu Single submitter
- p.Phe784= Single submitter
- p.Phe857= Single submitter
- p.Pro1085= Single submitter
- p.Pro17= Single submitter
- p.Pro190= Single submitter
- p.Pro205= Single submitter
- p.Pro495= Single submitter
- p.Pro738= Single submitter
- p.Pro906= Single submitter
- p.Pro928= Single submitter
- p.Pro949= Single submitter
- p.Ser361= Single submitter
- p.Ser556= Single submitter
- p.Ser695= Single submitter
- p.Ser749= Single submitter
- p.Ser786= Single submitter
- p.Ser917= Single submitter
- p.Thr157= Single submitter
- p.Thr303Ala Single submitter
- p.Thr303Met Single submitter
- p.Thr592= Single submitter
- p.Thr819= Single submitter
- p.Thr951= Single submitter
- p.Tyr777= Single submitter
- p.Val787= Single submitter
- p.Ala559= No assertion criteria CAPN15-related disorder
- p.Ala817= No assertion criteria CAPN15-related disorder
- p.Arg428Gln No assertion criteria CAPN15-related disorder
- p.Asn745= No assertion criteria CAPN15-related disorder
- p.Asp750= No assertion criteria CAPN15-related disorder
- p.Cys64= No assertion criteria CAPN15-related disorder
- p.Gly778Ser No assertion criteria CAPN15-related disorder
- p.His194= No assertion criteria CAPN15-related disorder
- p.His766= No assertion criteria CAPN15-related disorder
- p.His980= No assertion criteria CAPN15-related disorder
- p.Leu939= No assertion criteria CAPN15-related disorder
- p.Ser810= No assertion criteria CAPN15-related disorder
- p.Ser859= No assertion criteria CAPN15-related disorder
- p.Thr650= No assertion criteria CAPN15-related disorder
- p.Val1077= No assertion criteria CAPN15-related disorder
- p.Val184= No assertion criteria CAPN15-related disorder
- p.Val195= No assertion criteria CAPN15-related disorder
Uncertain significance 260
- c.2192+8C>T Multiple submitters
- p.Arg867Cys Multiple submitters oculogastrointestinal-neurodevelopmental syndrome ⚠
- p.Arg867His Multiple submitters ⚠
- p.Cys363Arg Multiple submitters oculogastrointestinal-neurodevelopmental syndrome ⚠
- p.Glu776Ala Multiple submitters oculogastrointestinal-neurodevelopmental syndrome ⚠
- p.Val489Met Multiple submitters ⚠
- p.Val841Met Multiple submitters oculogastrointestinal-neurodevelopmental syndrome ⚠
- p.Val884Ile Multiple submitters ⚠
- c.3084-11C>G Single submitter
- p.Ala1041Thr Single submitter ⚠
- p.Ala1078Thr Single submitter ⚠
- p.Ala141Glu Single submitter ⚠
- p.Ala141Val Single submitter ⚠
- p.Ala209Ser Single submitter ⚠
- p.Ala211Thr Single submitter ⚠
- p.Ala263Ser Single submitter ⚠
- p.Ala274Ser Single submitter ⚠
- p.Ala274Val Single submitter ⚠
- p.Ala287Glu Single submitter ⚠
- p.Ala312Pro Single submitter ⚠
- p.Ala334Thr Single submitter ⚠
- p.Ala357Val Single submitter ⚠
- p.Ala433Thr Single submitter ⚠
- p.Ala434Thr Single submitter ⚠
- p.Ala504Val Single submitter ⚠
- p.Ala51Ser Single submitter ⚠
- p.Ala557Ser Single submitter ⚠
- p.Ala557Thr Single submitter ⚠
- p.Ala559Val Single submitter ⚠
- p.Ala562Val Single submitter ⚠
- p.Ala579Val Single submitter ⚠
- p.Ala615Ser Single submitter ⚠
- p.Ala615Val Single submitter ⚠
- p.Ala628Val Single submitter ⚠
- p.Ala644Thr Single submitter ⚠
- p.Ala688Val Single submitter ⚠
- p.Ala77Val Single submitter ⚠
- p.Ala809Val Single submitter ⚠
- p.Ala811Thr Single submitter ⚠
- p.Ala817Val Single submitter ⚠
- p.Ala824Thr Single submitter ⚠
- p.Ala829Thr Single submitter ⚠
- p.Ala875Thr Single submitter ⚠
- p.Ala923Val Single submitter ⚠
- p.Ala983Val Single submitter ⚠
- p.Arg1014His Single submitter ⚠
- p.Arg1018Cys Single submitter ⚠
- p.Arg21His Single submitter ⚠
- p.Arg228Lys Single submitter ⚠
- p.Arg248Gln Single submitter ⚠
- p.Arg249Leu Single submitter ⚠
- p.Arg285His Single submitter ⚠
- p.Arg294Gln Single submitter ⚠
- p.Arg309Cys Single submitter ⚠
- p.Arg309Pro Single submitter ⚠
- p.Arg398Trp Single submitter ⚠
- p.Arg407His Single submitter ⚠
- p.Arg40Gln Single submitter ⚠
- p.Arg412Cys Single submitter ⚠
- p.Arg412His Single submitter ⚠
- p.Arg428Trp Single submitter ⚠
- p.Arg445Gln Single submitter ⚠
- p.Arg445Trp Single submitter ⚠
- p.Arg446Trp Single submitter oculogastrointestinal-neurodevelopmental syndrome ⚠
- p.Arg482Gln Single submitter ⚠
- p.Arg482Gly Single submitter oculogastrointestinal-neurodevelopmental syndrome ⚠
- p.Arg52Cys Single submitter ⚠
- p.Arg52His Single submitter ⚠
- p.Arg52Leu Single submitter ⚠
- p.Arg540Gln Single submitter ⚠
- p.Arg570Gln Single submitter ⚠
- p.Arg586Gln Single submitter ⚠
- p.Arg643His Single submitter ⚠
- p.Arg669Cys Single submitter ⚠
- p.Arg669His Single submitter ⚠
- p.Arg725Gln Single submitter ⚠
- p.Arg734Gln Single submitter ⚠
- p.Arg760Cys Single submitter ⚠
- p.Arg760His Single submitter ⚠
- p.Arg800Gln Single submitter ⚠
- p.Arg823Gln Single submitter ⚠
- p.Arg837Cys Single submitter ⚠
- p.Arg837His Single submitter ⚠
- p.Arg938Lys Single submitter ⚠
- p.Arg963Cys Single submitter ⚠
- p.Arg966Trp Single submitter ⚠
- p.Arg970His Single submitter ⚠
- p.Asn745Asp Single submitter ⚠
- p.Asp1006Asn Single submitter ⚠
- p.Asp327Asn Single submitter ⚠
- p.Asp34Asn Single submitter ⚠
- p.Asp383Tyr Single submitter ⚠
- p.Asp676Val Single submitter ⚠
- p.Asp723Asn Single submitter ⚠
- p.Asp795Gly Single submitter ⚠
- p.Asp883Asn Single submitter ⚠
- p.Asp954Asn Single submitter ⚠
- p.Cys123Phe Single submitter ⚠
- p.Cys346Arg Single submitter ⚠
- p.Cys363Phe Single submitter ⚠
- p.Cys523Phe Single submitter ⚠
- p.Cys588Arg Single submitter ⚠
- p.Cys64Tyr Single submitter ⚠
- p.Gln254Lys Single submitter ⚠
- p.Gln254Pro Single submitter ⚠
- p.Gln403Arg Single submitter ⚠
- p.Gln46Glu Single submitter ⚠
- p.Gln514Arg Single submitter ⚠
- p.Glu128Asp Single submitter ⚠
- p.Glu133Lys Single submitter ⚠
- p.Glu137Lys Single submitter ⚠
- p.Glu223Lys Single submitter ⚠
- p.Glu225Asp Single submitter ⚠
- p.Glu250Lys Single submitter ⚠
- p.Glu27Lys Single submitter ⚠
- p.Glu45Gly Single submitter ⚠
- p.Glu467Lys Single submitter ⚠
- p.Glu626Lys Single submitter ⚠
- p.Glu751Lys Single submitter ⚠
- p.Glu961Lys Single submitter ⚠
- p.Glu968Lys Single submitter ⚠
- p.Gly1015Ser Single submitter ⚠
- p.Gly1079Ser Single submitter ⚠
- p.Gly1082Arg Single submitter ⚠
- p.Gly121Trp Single submitter ⚠
- p.Gly167Arg Single submitter ⚠
- p.Gly19Cys Single submitter oculogastrointestinal-neurodevelopmental syndrome ⚠
- p.Gly19Ser Single submitter ⚠
- p.Gly277Ser Single submitter ⚠
- p.Gly292Ser Single submitter ⚠
- p.Gly313Asp Single submitter ⚠
- p.Gly326Arg Single submitter ⚠
- p.Gly326Val Single submitter ⚠
- p.Gly364Ser Single submitter ⚠
- p.Gly370Asp Single submitter ⚠
- p.Gly414Arg Single submitter ⚠
- p.Gly496Arg Single submitter ⚠
- p.Gly496Glu Single submitter ⚠
- p.Gly5Arg Single submitter ⚠
- p.Gly608Ser Single submitter ⚠
- p.Gly647Ala Single submitter ⚠
- p.Gly68Ser Single submitter ⚠
- p.Gly729Ser Single submitter ⚠
- p.Gly814Glu Single submitter ⚠
- p.Gly814Trp Single submitter ⚠
- p.Gly858Ser Single submitter ⚠
- p.Gly860Ser Single submitter ⚠
- p.Gly861Ser Single submitter ⚠
- p.Gly919Arg Single submitter ⚠
- p.Gly964Arg Single submitter ⚠
- p.His31Asn Single submitter ⚠
- p.His37Tyr Single submitter ⚠
- p.His758Gln Single submitter ⚠
- p.His766Tyr Single submitter ⚠
- p.His862Tyr Single submitter ⚠
- p.Ile625Met Single submitter ⚠
- p.Ile956Thr Single submitter oculogastrointestinal-neurodevelopmental syndrome ⚠
- p.Ile986Leu Single submitter ⚠
- p.Leu204Phe Single submitter ⚠
- p.Leu239Arg Single submitter ⚠
- p.Leu239Val Single submitter ⚠
- p.Leu368Pro Single submitter ⚠
- p.Leu41Arg Single submitter ⚠
- p.Leu440Phe Single submitter ⚠
- p.Leu711Arg Single submitter ⚠
- p.Leu711Val Single submitter ⚠
- p.Leu732Pro Single submitter ⚠
- p.Leu735Phe Single submitter ⚠
- p.Leu818Phe Single submitter ⚠
- p.Leu959Val Single submitter ⚠
- p.Lys686Asn Single submitter ⚠
- p.Lys877Asn Single submitter ⚠
- p.Phe69Leu Single submitter ⚠
- p.Pro1072Arg Single submitter ⚠
- p.Pro1072Gln Single submitter ⚠
- p.Pro1072Leu Single submitter ⚠
- p.Pro1072Ser Single submitter ⚠
- p.Pro17Leu Single submitter ⚠
- p.Pro185Leu Single submitter ⚠
- p.Pro190Leu Single submitter ⚠
- p.Pro197Leu Single submitter ⚠
- p.Pro200His Single submitter ⚠
- p.Pro205Ser Single submitter ⚠
- p.Pro227Ser Single submitter ⚠
- p.Pro230Leu Single submitter ⚠
- p.Pro258Leu Single submitter ⚠
- p.Pro265Leu Single submitter ⚠
- p.Pro265Ser Single submitter ⚠
- p.Pro267Thr Single submitter ⚠
- p.Pro413Leu Single submitter ⚠
- p.Pro438Arg Single submitter ⚠
- p.Pro494Ser Single submitter CAPN15-related disorder ⚠
- p.Pro756Leu Single submitter ⚠
- p.Pro765Leu Single submitter ⚠
- p.Pro81Arg Single submitter ⚠
- p.Pro888His Single submitter ⚠
- p.Pro88Ser Single submitter ⚠
- p.Pro903Leu Single submitter ⚠
- p.Pro904Ser Single submitter ⚠
- p.Pro906Leu Single submitter ⚠
- p.Pro911Leu Single submitter ⚠
- p.Pro921Leu Single submitter ⚠
- p.Pro925Ser Single submitter ⚠
- p.Pro928Leu Single submitter ⚠
- p.Pro944Ser Single submitter ⚠
- p.Ser237Phe Single submitter ⚠
- p.Ser314Arg Single submitter ⚠
- p.Ser335Arg Single submitter ⚠
- p.Ser337_Pro339del Single submitter
- p.Ser361Leu Single submitter ⚠
- p.Ser390Cys Single submitter ⚠
- p.Ser487Thr Single submitter ⚠
- p.Ser492Thr Single submitter ⚠
- p.Ser507Ile Single submitter ⚠
- p.Ser613Leu Single submitter oculogastrointestinal-neurodevelopmental syndrome ⚠
- p.Ser665Cys Single submitter ⚠
- p.Ser706Leu Single submitter ⚠
- p.Ser769Asn Single submitter ⚠
- p.Ser807Asn Single submitter ⚠
- p.Ser810Gly Single submitter ⚠
- p.Ser838Leu Single submitter ⚠
- p.Ser8Phe Single submitter ⚠
- p.Ser917Leu Single submitter ⚠
- p.Ser917Pro Single submitter ⚠
- p.Ser924Pro Single submitter ⚠
- p.Thr1063Lys Single submitter ⚠
- p.Thr157Met Single submitter ⚠
- p.Thr328Ile Single submitter ⚠
- p.Thr332Pro Single submitter ⚠
- p.Thr350Met Single submitter ⚠
- p.Thr3Met Single submitter ⚠
- p.Thr437Ala Single submitter ⚠
- p.Thr574Met Single submitter ⚠
- p.Thr592Arg Single submitter ⚠
- p.Thr819Pro Single submitter ⚠
- p.Thr951Met Single submitter ⚠
- p.Trp901Arg Single submitter ⚠
- p.Val1030Ile Single submitter ⚠
- p.Val165Ile Single submitter ⚠
- p.Val188Ala Single submitter ⚠
- p.Val195Ile Single submitter ⚠
- p.Val195Phe Single submitter ⚠
- p.Val196Met Single submitter ⚠
- p.Val244Leu Single submitter ⚠
- p.Val244Met Single submitter ⚠
- p.Val251Ala Single submitter ⚠
- p.Val297Met Single submitter ⚠
- p.Val408Ile Single submitter ⚠
- p.Val43Met Single submitter ⚠
- p.Val459Met Single submitter ⚠
- p.Val489Leu Single submitter ⚠
- p.Val525Ile Single submitter ⚠
- p.Val787Met Single submitter ⚠
- p.Val82Leu Single submitter ⚠
- p.Val86Leu Single submitter ⚠
- p.Val880Ile Single submitter ⚠
- p.Val931Met Single submitter ⚠
- p.Val940Ala Single submitter ⚠
- p.Val942Met Single submitter ⚠
- p.Thr950Ala No assertion criteria CAPN15-related disorder ⚠