NCKAP1 — 224 ClinVar variants
All ClinVar germline NCKAP1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 153 flagged for review →
11 Pathogenic · 17 Likely pathogenic · 6 Benign · 20 Likely benign · 170 Uncertain significance
Full NCKAP1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 153
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 vs ClinVar 1
ClinVar calls these pathogenic, but the computational predictors lean tolerated — the highest-value review flag.
Predictors lean, ClinVar uncertain 86
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- NCKAP1 p.Ala1128Val Uncertain significance Multiple submitters
-
NCKAP1 p.Cys327Arg
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
NCKAP1 p.Ile689Val
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
NCKAP1 p.Met665Ile
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
NCKAP1 p.Met695Ile
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
NCKAP1 p.Ala1118Thr
Uncertain significance
Single submitter
Inborn genetic diseases
- NCKAP1 p.Ala568Thr Uncertain significance Single submitter
- NCKAP1 p.Ala813Gly Uncertain significance Single submitter
- NCKAP1 p.Ala891Gly Uncertain significance Single submitter
-
NCKAP1 p.Ala91Ser
Uncertain significance
Single submitter
Inborn genetic diseases
- NCKAP1 p.Ala923Thr Uncertain significance Single submitter
- NCKAP1 p.Arg925Lys Uncertain significance Single submitter
- NCKAP1 p.Arg925Thr Uncertain significance Single submitter
-
NCKAP1 p.Asn161Ile
Uncertain significance
Single submitter
Inborn genetic diseases
- NCKAP1 p.Asn21His Uncertain significance Single submitter
-
NCKAP1 p.Asn274Ser
Uncertain significance
Single submitter
Inborn genetic diseases
- NCKAP1 p.Asn318Ser Uncertain significance Single submitter
- NCKAP1 p.Asn690Ser Uncertain significance Single submitter
-
NCKAP1 p.Asn694Asp
Uncertain significance
Single submitter
Inborn genetic diseases
- NCKAP1 p.Asn802His Uncertain significance Single submitter
-
NCKAP1 p.Asp122Asn
Uncertain significance
Single submitter
NCKAP1-related disorder
-
NCKAP1 p.Cys117Phe
Uncertain significance
Single submitter
Inborn genetic diseases
- NCKAP1 p.Cys327Gly Uncertain significance Single submitter
- NCKAP1 p.Gln360Glu Uncertain significance Single submitter
- NCKAP1 p.Gln648His Uncertain significance Single submitter
-
NCKAP1 p.Gln758Arg
Uncertain significance
Single submitter
neurodevelopmental disorder
-
NCKAP1 p.Glu407Gln
Uncertain significance
Single submitter
Inborn genetic diseases
- NCKAP1 p.Glu535Lys Uncertain significance Single submitter
-
NCKAP1 p.Glu582Asp
Uncertain significance
Single submitter
Inborn genetic diseases
- NCKAP1 p.His270Arg Uncertain significance Single submitter
- NCKAP1 p.Ile156Val Uncertain significance Single submitter
-
NCKAP1 p.Ile267Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
NCKAP1 p.Ile272Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
NCKAP1 p.Ile324Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
NCKAP1 p.Ile458Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
NCKAP1 p.Ile833Met
Uncertain significance
Single submitter
Inborn genetic diseases
-
NCKAP1 p.Ile939Asn
Uncertain significance
Single submitter
Inborn genetic diseases
-
NCKAP1 p.Ile987Val
Uncertain significance
Single submitter
Inborn genetic diseases
- NCKAP1 p.Leu1066Gln Uncertain significance Single submitter
- NCKAP1 p.Leu146Gln Uncertain significance Single submitter
- NCKAP1 p.Leu210Pro Uncertain significance Single submitter
- NCKAP1 p.Leu364Pro Uncertain significance Single submitter
- NCKAP1 p.Leu442Pro Uncertain significance Single submitter
-
NCKAP1 p.Leu678Phe
Uncertain significance
Single submitter
Inborn genetic diseases
-
NCKAP1 p.Leu6Val
Uncertain significance
Single submitter
Inborn genetic diseases
- NCKAP1 p.Leu796Ser Uncertain significance Single submitter
- NCKAP1 p.Leu979Pro Uncertain significance Single submitter
-
NCKAP1 p.Lys154Arg
Uncertain significance
Single submitter
Inborn genetic diseases
- NCKAP1 p.Lys351Arg Uncertain significance Single submitter
- NCKAP1 p.Lys849Arg Uncertain significance Single submitter
-
NCKAP1 p.Met1000Leu
Uncertain significance
Single submitter
Inborn genetic diseases
- NCKAP1 p.Met192Val Uncertain significance Single submitter
-
NCKAP1 p.Met239Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
NCKAP1 p.Met338Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
NCKAP1 p.Met392Leu
Uncertain significance
Single submitter
Inborn genetic diseases
- NCKAP1 p.Met412Leu Uncertain significance Single submitter
- NCKAP1 p.Met486Ile Uncertain significance Single submitter
-
NCKAP1 p.Met532Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
NCKAP1 p.Met665Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
NCKAP1 p.Met811Val
Uncertain significance
Single submitter
Inborn genetic diseases
- NCKAP1 p.Met836Arg Uncertain significance Single submitter
-
NCKAP1 p.Met848Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
NCKAP1 p.Pro176Ala
Uncertain significance
Single submitter
Inborn genetic diseases
- NCKAP1 p.Pro655Arg Uncertain significance Single submitter
- NCKAP1 p.Ser202Phe Uncertain significance Single submitter
- NCKAP1 p.Ser237Asn Uncertain significance Single submitter
- NCKAP1 p.Ser294Phe Uncertain significance Single submitter
- NCKAP1 p.Ser462Cys Uncertain significance Single submitter
- NCKAP1 p.Ser528Thr Uncertain significance Single submitter
- NCKAP1 p.Ser595Gly Uncertain significance Single submitter
-
NCKAP1 p.Ser645Leu
Uncertain significance
Single submitter
Inborn genetic diseases
- NCKAP1 p.Ser742Thr Uncertain significance Single submitter
-
NCKAP1 p.Ser752Ala
Uncertain significance
Single submitter
Inborn genetic diseases
- NCKAP1 p.Ser883Arg Uncertain significance Single submitter
- NCKAP1 p.Ser918Pro Uncertain significance Single submitter
-
NCKAP1 p.Thr1125Ile
Uncertain significance
Single submitter
Inborn genetic diseases
-
NCKAP1 p.Thr275Ile
Uncertain significance
Single submitter
NCKAP1-related disorder
-
NCKAP1 p.Thr278Ile
Uncertain significance
Single submitter
Inborn genetic diseases
- NCKAP1 p.Trp224Cys Uncertain significance Single submitter
-
NCKAP1 p.Tyr691Cys
Uncertain significance
Single submitter
Inborn genetic diseases
- NCKAP1 p.Tyr788His Uncertain significance Single submitter
- NCKAP1 p.Val197Leu Uncertain significance Single submitter
- NCKAP1 p.Val757Met Uncertain significance Single submitter
- NCKAP1 p.Val900Ile Uncertain significance Single submitter
- NCKAP1 p.Val903Ile Uncertain significance Single submitter
-
NCKAP1 p.Asn826Ser
Uncertain significance
No assertion criteria
NCKAP1-related disorder
Predictors split 66
The independent predictors disagree with each other — read with care.
-
NCKAP1 p.Arg1054His
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
NCKAP1 p.Glu15Gly
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
NCKAP1 p.Leu268Phe
Uncertain significance
Multiple submitters
Inborn genetic diseases
- NCKAP1 p.Ser683Phe Uncertain significance Multiple submitters
- NCKAP1 p.Tyr1116Asn Uncertain significance Multiple submitters
-
NCKAP1 p.Val431Leu
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
NCKAP1 p.Ala286Gly
Uncertain significance
Single submitter
Inborn genetic diseases
- NCKAP1 p.Ala335Val Uncertain significance Single submitter
-
NCKAP1 p.Ala548Asp
Uncertain significance
Single submitter
Inborn genetic diseases
-
NCKAP1 p.Ala734Val
Uncertain significance
Single submitter
Inborn genetic diseases
- NCKAP1 p.Arg30Cys Uncertain significance Single submitter
-
NCKAP1 p.Arg669Ser
Likely pathogenic
Single submitter
neurodevelopmental disorder
-
NCKAP1 p.Arg715Ser
Uncertain significance
Single submitter
NCKAP1-related neurodevelopmental disorder with autism features
-
NCKAP1 p.Asn1027Lys
Uncertain significance
Single submitter
Inborn genetic diseases
- NCKAP1 p.Asn33His Uncertain significance Single submitter
- NCKAP1 p.Asn52Asp Uncertain significance Single submitter
- NCKAP1 p.Asn767Asp Uncertain significance Single submitter
-
NCKAP1 p.Asn790Asp
Uncertain significance
Single submitter
Inborn genetic diseases
- NCKAP1 p.Asp105Glu Uncertain significance Single submitter
-
NCKAP1 p.Asp309Asn
Uncertain significance
Single submitter
Inborn genetic diseases
- NCKAP1 p.Asp390Gly Uncertain significance Single submitter
-
NCKAP1 p.Asp50Asn
Uncertain significance
Single submitter
Inborn genetic diseases
- NCKAP1 p.Asp593Gly Uncertain significance Single submitter
-
NCKAP1 p.Asp626Tyr
Uncertain significance
Single submitter
Inborn genetic diseases
- NCKAP1 p.Asp777Gly Uncertain significance Single submitter
-
NCKAP1 p.Asp901Gly
Uncertain significance
Single submitter
Inborn genetic diseases
- NCKAP1 p.Cys599Gly Uncertain significance Single submitter
-
NCKAP1 p.Gln288Leu
Uncertain significance
Single submitter
Inborn genetic diseases
- NCKAP1 p.Gln474Arg Uncertain significance Single submitter
- NCKAP1 p.Gln774Lys Uncertain significance Single submitter
- NCKAP1 p.Glu308Gly Uncertain significance Single submitter
- NCKAP1 p.Glu308Lys Likely pathogenic Single submitter
- NCKAP1 p.Glu326Lys Uncertain significance Single submitter
- NCKAP1 p.Glu326Val Uncertain significance Single submitter
- NCKAP1 p.Glu732Ala Uncertain significance Single submitter
- NCKAP1 p.Gly179Ala Uncertain significance Single submitter
-
NCKAP1 p.Gly362Ala
Likely benign
Single submitter
neurodevelopmental disorder
- NCKAP1 p.His106Arg Uncertain significance Single submitter
-
NCKAP1 p.His199Arg
Uncertain significance
Single submitter
Inborn genetic diseases
- NCKAP1 p.Ile233Met Uncertain significance Single submitter
- NCKAP1 p.Leu529Phe Uncertain significance Single submitter
- NCKAP1 p.Leu770Phe Uncertain significance Single submitter
- NCKAP1 p.Leu866Val Uncertain significance Single submitter
- NCKAP1 p.Leu999Phe Uncertain significance Single submitter
- NCKAP1 p.Lys344Asn Uncertain significance Single submitter
- NCKAP1 p.Lys351Gln Uncertain significance Single submitter
- NCKAP1 p.Lys647Asn Uncertain significance Single submitter
-
NCKAP1 p.Met166Ile
Uncertain significance
Single submitter
Inborn genetic diseases
- NCKAP1 p.Met460Ile Uncertain significance Single submitter
- NCKAP1 p.Met516Ile Uncertain significance Single submitter
- NCKAP1 p.Phe370Ser Uncertain significance Single submitter
-
NCKAP1 p.Phe544Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
NCKAP1 p.Phe553Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
NCKAP1 p.Pro249Ser
Uncertain significance
Single submitter
Inborn genetic diseases
- NCKAP1 p.Pro560Ala Uncertain significance Single submitter
-
NCKAP1 p.Ser1050Ile
Uncertain significance
Single submitter
Inborn genetic diseases
- NCKAP1 p.Ser1064Phe Uncertain significance Single submitter
-
NCKAP1 p.Ser148Phe
Uncertain significance
Single submitter
Inborn genetic diseases
- NCKAP1 p.Ser595Cys Uncertain significance Single submitter
- NCKAP1 p.Ser786Arg Uncertain significance Single submitter
- NCKAP1 p.Thr238Ile Uncertain significance Single submitter
- NCKAP1 p.Tyr545Asn Uncertain significance Single submitter
- NCKAP1 p.Tyr545Ser Uncertain significance Single submitter
- NCKAP1 p.Tyr746His Uncertain significance Single submitter
-
NCKAP1 p.Val57Met
Uncertain significance
Single submitter
Inborn genetic diseases
-
NCKAP1 p.Asp438Glu
Uncertain significance
No assertion criteria
NCKAP1-related disorder
All NCKAP1 variants
Pathogenic 11
- p.Arg798Ter Multiple submitters
- c.1004+1G>A Single submitter neurodevelopmental disorder
- p.Ala1040fs Single submitter
- p.Arg216Ter Single submitter
- p.Arg705Ter Single submitter
- p.Arg917Ter Single submitter
- p.Asn1080fs Single submitter Autistic behavior
- p.Gln621Ter Single submitter Neurodevelopmental abnormality
- p.Leu295fs Single submitter Inborn genetic diseases
- p.Pro704fs Single submitter NCKAP1-associated Neurodevelopmental disorder
- p.Tyr496Ter Single submitter neurodevelopmental disorder
Likely pathogenic 17
- c.3180+2del Single submitter NCKAP1-related disorder
- c.790+1G>A Single submitter
- p.Arg669Ser Single submitter neurodevelopmental disorder ⚠
- p.Asn52fs Single submitter intellectual disability
- p.Gln228fs Single submitter NCKAP1-associated Neurodevelopmental disorder
- p.Glu1094Ter Single submitter immunodeficiency 72 with autoinflammation
- p.Glu308Lys Single submitter ⚠
- p.Lys1056_Leu1059del Single submitter Inborn genetic diseases
- p.Lys260Ter Single submitter Global developmental delay
- p.Lys501fs Single submitter NCKAP1-related disorder
- p.Met212fs Single submitter
- p.Phe296fs Single submitter NCKAP1-related neurodevelopmental disorder with autism features
- p.Phe97fs Single submitter
- p.Ser710fs Single submitter autosomal dominant NCKAP1-related neurodevelopmental disorder
- p.Ser742Arg Single submitter ⚠
- p.Tyr422fs Single submitter complex neurodevelopmental disorder
- p.Gln731Ter No assertion criteria Global developmental delay
Benign 6
- c.1762-12C>T Multiple submitters
- p.Val927= Multiple submitters
- c.948-6A>C Single submitter
- p.Ile913= Single submitter
- c.1005-4A>G No assertion criteria NCKAP1-related disorder
- p.Ala354= No assertion criteria NCKAP1-related disorder
Likely benign 20
- c.109-13T>G Single submitter
- c.2503+16C>T Single submitter
- c.2602-3dup Single submitter
- p.Ala955= Single submitter
- p.Arg1054= Single submitter
- p.Cys452= Single submitter
- p.Glu194= Single submitter
- p.Gly362Ala Single submitter neurodevelopmental disorder ⚠
- p.Leu31= Single submitter
- p.Leu682= Single submitter
- p.Leu787= Single submitter
- p.Pro176= Single submitter
- c.1629-3dup No assertion criteria NCKAP1-related disorder
- c.2860-5dup No assertion criteria NCKAP1-related disorder
- c.948-7C>T No assertion criteria NCKAP1-related disorder
- p.Glu620= No assertion criteria NCKAP1-related disorder
- p.Ile939Val No assertion criteria NCKAP1-related disorder
- p.Leu20= No assertion criteria NCKAP1-related disorder
- p.Leu961= No assertion criteria NCKAP1-related disorder
- p.Lys344= No assertion criteria NCKAP1-related disorder
Uncertain significance 170
- p.Ala1128Val Multiple submitters ⚠
- p.Arg1054His Multiple submitters Inborn genetic diseases ⚠
- p.Cys327Arg Multiple submitters Inborn genetic diseases ⚠
- p.Glu15Gly Multiple submitters Inborn genetic diseases ⚠
- p.Ile689Val Multiple submitters Inborn genetic diseases ⚠
- p.Leu268Phe Multiple submitters Inborn genetic diseases ⚠
- p.Met665Ile Multiple submitters Inborn genetic diseases ⚠
- p.Met695Ile Multiple submitters Inborn genetic diseases ⚠
- p.Ser683Phe Multiple submitters ⚠
- p.Tyr1116Asn Multiple submitters ⚠
- p.Val431Leu Multiple submitters Inborn genetic diseases ⚠
- c.1004+5G>A Single submitter
- c.109-1076G>A Single submitter
- c.109-1091A>G Single submitter
- c.1209-13A>G Single submitter
- c.1209-6A>G Single submitter
- c.1761+8T>G Single submitter
- c.2602-3T>A Single submitter Inborn genetic diseases
- c.513-10C>T Single submitter
- c.604-5_604-2del Single submitter
- p.Ala1060= Single submitter
- p.Ala1115_Tyr1116insTer Single submitter autism spectrum disorder
- p.Ala1118Thr Single submitter Inborn genetic diseases ⚠
- p.Ala286Gly Single submitter Inborn genetic diseases ⚠
- p.Ala335Val Single submitter ⚠
- p.Ala548Asp Single submitter Inborn genetic diseases ⚠
- p.Ala568Thr Single submitter ⚠
- p.Ala734Val Single submitter Inborn genetic diseases ⚠
- p.Ala813Gly Single submitter ⚠
- p.Ala891Gly Single submitter ⚠
- p.Ala91Ser Single submitter Inborn genetic diseases ⚠
- p.Ala923Thr Single submitter ⚠
- p.Ala965Val Single submitter
- p.Arg30Cys Single submitter ⚠
- p.Arg715Ser Single submitter NCKAP1-related neurodevelopmental disorder with autism features ⚠
- p.Arg925Lys Single submitter ⚠
- p.Arg925Thr Single submitter ⚠
- p.Asn1027Lys Single submitter Inborn genetic diseases ⚠
- p.Asn161Ile Single submitter Inborn genetic diseases ⚠
- p.Asn21His Single submitter ⚠
- p.Asn274Ser Single submitter Inborn genetic diseases ⚠
- p.Asn318Ser Single submitter ⚠
- p.Asn33His Single submitter ⚠
- p.Asn52Asp Single submitter ⚠
- p.Asn690Ser Single submitter ⚠
- p.Asn694Asp Single submitter Inborn genetic diseases ⚠
- p.Asn767Asp Single submitter ⚠
- p.Asn790Asp Single submitter Inborn genetic diseases ⚠
- p.Asn802His Single submitter ⚠
- p.Asp105Glu Single submitter ⚠
- p.Asp122Asn Single submitter NCKAP1-related disorder ⚠
- p.Asp128fs Single submitter NCKAP1-related disorder
- p.Asp309Asn Single submitter Inborn genetic diseases ⚠
- p.Asp390Gly Single submitter ⚠
- p.Asp50Asn Single submitter Inborn genetic diseases ⚠
- p.Asp593Gly Single submitter ⚠
- p.Asp626Tyr Single submitter Inborn genetic diseases ⚠
- p.Asp777Gly Single submitter ⚠
- p.Asp901Gly Single submitter Inborn genetic diseases ⚠
- p.Cys117Phe Single submitter Inborn genetic diseases ⚠
- p.Cys327Gly Single submitter ⚠
- p.Cys599Gly Single submitter ⚠
- p.Gln288Leu Single submitter Inborn genetic diseases ⚠
- p.Gln360Glu Single submitter ⚠
- p.Gln474Arg Single submitter ⚠
- p.Gln648His Single submitter ⚠
- p.Gln758Arg Single submitter neurodevelopmental disorder ⚠
- p.Gln774Lys Single submitter ⚠
- p.Glu308Gly Single submitter ⚠
- p.Glu326Lys Single submitter ⚠
- p.Glu326Val Single submitter ⚠
- p.Glu407Gln Single submitter Inborn genetic diseases ⚠
- p.Glu535Lys Single submitter ⚠
- p.Glu582Asp Single submitter Inborn genetic diseases ⚠
- p.Glu732Ala Single submitter ⚠
- p.Gly179Ala Single submitter ⚠
- p.Gly722Val Single submitter
- p.His106Arg Single submitter ⚠
- p.His168Arg Single submitter Inborn genetic diseases
- p.His199Arg Single submitter Inborn genetic diseases ⚠
- p.His270Arg Single submitter ⚠
- p.Ile1051Thr Single submitter Inborn genetic diseases
- p.Ile156Val Single submitter ⚠
- p.Ile233Met Single submitter ⚠
- p.Ile267Val Single submitter Inborn genetic diseases ⚠
- p.Ile272Ser Single submitter Inborn genetic diseases ⚠
- p.Ile324Val Single submitter Inborn genetic diseases ⚠
- p.Ile458Val Single submitter Inborn genetic diseases ⚠
- p.Ile833Met Single submitter Inborn genetic diseases ⚠
- p.Ile939Asn Single submitter Inborn genetic diseases ⚠
- p.Ile987Val Single submitter Inborn genetic diseases ⚠
- p.Leu1066Gln Single submitter ⚠
- p.Leu146Gln Single submitter ⚠
- p.Leu210Pro Single submitter ⚠
- p.Leu364Pro Single submitter ⚠
- p.Leu442Pro Single submitter ⚠
- p.Leu529Phe Single submitter ⚠
- p.Leu678Phe Single submitter Inborn genetic diseases ⚠
- p.Leu6Val Single submitter Inborn genetic diseases ⚠
- p.Leu770Phe Single submitter ⚠
- p.Leu796Ser Single submitter ⚠
- p.Leu866Val Single submitter ⚠
- p.Leu979Pro Single submitter ⚠
- p.Leu999Phe Single submitter ⚠
- p.Lys154Arg Single submitter Inborn genetic diseases ⚠
- p.Lys344Asn Single submitter ⚠
- p.Lys351Arg Single submitter ⚠
- p.Lys351Gln Single submitter ⚠
- p.Lys647Asn Single submitter ⚠
- p.Lys849Arg Single submitter ⚠
- p.Met1000Leu Single submitter Inborn genetic diseases ⚠
- p.Met166Ile Single submitter Inborn genetic diseases ⚠
- p.Met192Val Single submitter ⚠
- p.Met239Leu Single submitter Inborn genetic diseases ⚠
- p.Met338Val Single submitter Inborn genetic diseases ⚠
- p.Met392Leu Single submitter Inborn genetic diseases ⚠
- p.Met412Leu Single submitter ⚠
- p.Met460Ile Single submitter ⚠
- p.Met486Ile Single submitter ⚠
- p.Met516Ile Single submitter ⚠
- p.Met532Val Single submitter Inborn genetic diseases ⚠
- p.Met665Thr Single submitter Inborn genetic diseases ⚠
- p.Met811Val Single submitter Inborn genetic diseases ⚠
- p.Met836Arg Single submitter ⚠
- p.Met848Val Single submitter Inborn genetic diseases ⚠
- p.Phe370Ser Single submitter ⚠
- p.Phe544Leu Single submitter Inborn genetic diseases ⚠
- p.Phe553Leu Single submitter Inborn genetic diseases ⚠
- p.Pro176Ala Single submitter Inborn genetic diseases ⚠
- p.Pro249Ser Single submitter Inborn genetic diseases ⚠
- p.Pro560Ala Single submitter ⚠
- p.Pro655Arg Single submitter ⚠
- p.Ser1050Ile Single submitter Inborn genetic diseases ⚠
- p.Ser1064Phe Single submitter ⚠
- p.Ser148Phe Single submitter Inborn genetic diseases ⚠
- p.Ser202Phe Single submitter ⚠
- p.Ser237Asn Single submitter ⚠
- p.Ser294Phe Single submitter ⚠
- p.Ser462Cys Single submitter ⚠
- p.Ser469Phe Single submitter complex neurodevelopmental disorder
- p.Ser528Thr Single submitter ⚠
- p.Ser595Cys Single submitter ⚠
- p.Ser595Gly Single submitter ⚠
- p.Ser645Leu Single submitter Inborn genetic diseases ⚠
- p.Ser742Thr Single submitter ⚠
- p.Ser752Ala Single submitter Inborn genetic diseases ⚠
- p.Ser786Arg Single submitter ⚠
- p.Ser883Arg Single submitter ⚠
- p.Ser918Pro Single submitter ⚠
- p.Thr1125Ile Single submitter Inborn genetic diseases ⚠
- p.Thr238Ile Single submitter ⚠
- p.Thr275Ile Single submitter NCKAP1-related disorder ⚠
- p.Thr278Ile Single submitter Inborn genetic diseases ⚠
- p.Thr69Ile Single submitter Inborn genetic diseases
- p.Trp224Cys Single submitter ⚠
- p.Tyr1116_His1117insProTyr Single submitter
- p.Tyr214fs Single submitter
- p.Tyr422Ter Single submitter
- p.Tyr545Asn Single submitter ⚠
- p.Tyr545Ser Single submitter ⚠
- p.Tyr691Cys Single submitter Inborn genetic diseases ⚠
- p.Tyr746His Single submitter ⚠
- p.Tyr788His Single submitter ⚠
- p.Val197Leu Single submitter ⚠
- p.Val57Met Single submitter Inborn genetic diseases ⚠
- p.Val757Met Single submitter ⚠
- p.Val900Ile Single submitter ⚠
- p.Val903Ile Single submitter ⚠
- p.Asn826Ser No assertion criteria NCKAP1-related disorder ⚠
- p.Asp438Glu No assertion criteria NCKAP1-related disorder ⚠