NECAP1 — 194 ClinVar variants
All ClinVar germline NECAP1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 95 flagged for review →
3 Pathogenic · 1 Pathogenic/Likely pathogenic · 1 Conflicting · 4 Benign · 1 Benign/Likely benign · 83 Likely benign · 101 Uncertain significance
Full NECAP1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 95
Variants where the independent computational evidence doesn't line up with the clinical picture — a QC signal for a second look, not a reclassification.
Predictors agree, ClinVar conflicts 1
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
-
NECAP1 p.Asp224Asn
Conflicting
Single submitter
developmental and epileptic encephalopathy, 21
Predictors lean, ClinVar uncertain 78
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
-
NECAP1 p.Ala173Val
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
NECAP1 p.Arg102His
Uncertain significance
Multiple submitters
developmental and epileptic encephalopathy, 21
-
NECAP1 p.Arg46Cys
Uncertain significance
Multiple submitters
developmental and epileptic encephalopathy, 21
-
NECAP1 p.Asp118Asn
Uncertain significance
Multiple submitters
developmental and epileptic encephalopathy, 21
-
NECAP1 p.Gly253Glu
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
NECAP1 p.Gly45Ala
Uncertain significance
Multiple submitters
developmental and epileptic encephalopathy, 21
-
NECAP1 p.His126Tyr
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
NECAP1 p.Ile163Val
Uncertain significance
Multiple submitters
developmental and epileptic encephalopathy, 21
-
NECAP1 p.Lys194Arg
Uncertain significance
Multiple submitters
developmental and epileptic encephalopathy, 21
-
NECAP1 p.Pro214Ser
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
NECAP1 p.Pro216Leu
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
NECAP1 p.Pro236Ser
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
NECAP1 p.Thr111Ala
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
NECAP1 p.Thr84Met
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
NECAP1 p.Ala116Ser
Uncertain significance
Single submitter
developmental and epileptic encephalopathy, 21
-
NECAP1 p.Ala145Gly
Uncertain significance
Single submitter
Inborn genetic diseases
-
NECAP1 p.Ala225Gly
Uncertain significance
Single submitter
developmental and epileptic encephalopathy, 21
-
NECAP1 p.Ala258Thr
Uncertain significance
Single submitter
developmental and epileptic encephalopathy, 21
-
NECAP1 p.Ala266Val
Uncertain significance
Single submitter
developmental and epileptic encephalopathy, 21
-
NECAP1 p.Ala26Val
Uncertain significance
Single submitter
developmental and epileptic encephalopathy, 21
-
NECAP1 p.Ala72Ser
Uncertain significance
Single submitter
developmental and epileptic encephalopathy, 21
-
NECAP1 p.Ala81Ser
Uncertain significance
Single submitter
developmental and epileptic encephalopathy, 21
-
NECAP1 p.Arg113Gln
Uncertain significance
Single submitter
developmental and epileptic encephalopathy, 21
-
NECAP1 p.Arg113Trp
Uncertain significance
Single submitter
developmental and epileptic encephalopathy, 21
-
NECAP1 p.Arg180Lys
Uncertain significance
Single submitter
developmental and epileptic encephalopathy, 21
-
NECAP1 p.Arg46His
Uncertain significance
Single submitter
developmental and epileptic encephalopathy, 21
-
NECAP1 p.Arg48Gln
Uncertain significance
Single submitter
Inborn genetic diseases
-
NECAP1 p.Arg90Cys
Uncertain significance
Single submitter
developmental and epileptic encephalopathy, 21
-
NECAP1 p.Arg95Gln
Uncertain significance
Single submitter
Inborn genetic diseases
- NECAP1 p.Arg95Trp Uncertain significance Single submitter
-
NECAP1 p.Asn249Ser
Uncertain significance
Single submitter
developmental and epileptic encephalopathy, 21
-
NECAP1 p.Asn264Asp
Uncertain significance
Single submitter
developmental and epileptic encephalopathy, 21
-
NECAP1 p.Asn264Ser
Uncertain significance
Single submitter
developmental and epileptic encephalopathy, 21
-
NECAP1 p.Asn271Ser
Uncertain significance
Single submitter
developmental and epileptic encephalopathy, 21
-
NECAP1 p.Asp144Asn
Uncertain significance
Single submitter
developmental and epileptic encephalopathy, 21
-
NECAP1 p.Asp150Gly
Uncertain significance
Single submitter
developmental and epileptic encephalopathy, 21
-
NECAP1 p.Gln141Arg
Uncertain significance
Single submitter
developmental and epileptic encephalopathy, 21
-
NECAP1 p.Gln265Leu
Uncertain significance
Single submitter
developmental and epileptic encephalopathy, 21
- NECAP1 p.Gln97His Uncertain significance Single submitter
- NECAP1 p.Glu61Val Uncertain significance Single submitter
- NECAP1 p.Gly107Val Uncertain significance Single submitter
-
NECAP1 p.Gly172Asp
Uncertain significance
Single submitter
developmental and epileptic encephalopathy, 21
-
NECAP1 p.Gly172Val
Uncertain significance
Single submitter
developmental and epileptic encephalopathy, 21
-
NECAP1 p.Gly181Ala
Uncertain significance
Single submitter
developmental and epileptic encephalopathy, 21
-
NECAP1 p.Gly222Ser
Uncertain significance
Single submitter
developmental and epileptic encephalopathy, 21
- NECAP1 p.Gly253Arg Uncertain significance Single submitter
-
NECAP1 p.Gly53Ala
Uncertain significance
Single submitter
Inborn genetic diseases
-
NECAP1 p.Gly79Asp
Uncertain significance
Single submitter
developmental and epileptic encephalopathy, 21
-
NECAP1 p.Leu251Phe
Uncertain significance
Single submitter
developmental and epileptic encephalopathy, 21
-
NECAP1 p.Leu251Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
NECAP1 p.Leu60Phe
Uncertain significance
Single submitter
developmental and epileptic encephalopathy, 21
-
NECAP1 p.Leu60Pro
Uncertain significance
Single submitter
Inborn genetic diseases
-
NECAP1 p.Lys160Thr
Uncertain significance
Single submitter
developmental and epileptic encephalopathy, 21
-
NECAP1 p.Lys194Ile
Uncertain significance
Single submitter
developmental and epileptic encephalopathy, 21
-
NECAP1 p.Lys54Thr
Uncertain significance
Single submitter
developmental and epileptic encephalopathy, 21
-
NECAP1 p.Met143Val
Uncertain significance
Single submitter
developmental and epileptic encephalopathy, 21
-
NECAP1 p.Phe69Leu
Uncertain significance
Single submitter
Inborn genetic diseases
- NECAP1 p.Pro188Leu Uncertain significance Single submitter
-
NECAP1 p.Pro188Thr
Uncertain significance
Single submitter
developmental and epileptic encephalopathy, 21
-
NECAP1 p.Pro190Arg
Uncertain significance
Single submitter
developmental and epileptic encephalopathy, 21
-
NECAP1 p.Pro199Ser
Uncertain significance
Single submitter
developmental and epileptic encephalopathy, 21
-
NECAP1 p.Pro213Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
NECAP1 p.Pro234Ser
Uncertain significance
Single submitter
developmental and epileptic encephalopathy, 21
-
NECAP1 p.Pro23Leu
Uncertain significance
Single submitter
developmental and epileptic encephalopathy, 21
-
NECAP1 p.Pro73Ser
Uncertain significance
Single submitter
developmental and epileptic encephalopathy, 21
-
NECAP1 p.Ser122Cys
Uncertain significance
Single submitter
Inborn genetic diseases
-
NECAP1 p.Ser260Asn
Uncertain significance
Single submitter
developmental and epileptic encephalopathy, 21
-
NECAP1 p.Ser34Thr
Uncertain significance
Single submitter
developmental and epileptic encephalopathy, 21
-
NECAP1 p.Thr196Pro
Uncertain significance
Single submitter
developmental and epileptic encephalopathy, 21
-
NECAP1 p.Thr238Met
Uncertain significance
Single submitter
developmental and epileptic encephalopathy, 21
-
NECAP1 p.Thr239Ser
Uncertain significance
Single submitter
developmental and epileptic encephalopathy, 21
-
NECAP1 p.Thr243Ala
Uncertain significance
Single submitter
developmental and epileptic encephalopathy, 21
-
NECAP1 p.Thr86Ile
Uncertain significance
Single submitter
developmental and epileptic encephalopathy, 21
-
NECAP1 p.Tyr57Cys
Uncertain significance
Single submitter
Inborn genetic diseases
-
NECAP1 p.Val210Ala
Uncertain significance
Single submitter
developmental and epileptic encephalopathy, 21
-
NECAP1 p.Val237Ile
Uncertain significance
Single submitter
developmental and epileptic encephalopathy, 21
-
NECAP1 p.Val245Ala
Uncertain significance
Single submitter
developmental and epileptic encephalopathy, 21
-
NECAP1 p.Val82Met
Uncertain significance
Single submitter
developmental and epileptic encephalopathy, 21
Predictors split 16
The independent predictors disagree with each other — read with care.
-
NECAP1 p.Arg146His
Uncertain significance
Multiple submitters
developmental and epileptic encephalopathy, 21
-
NECAP1 p.Pro190Leu
Uncertain significance
Multiple submitters
developmental and epileptic encephalopathy, 21
-
NECAP1 p.Arg146Cys
Uncertain significance
Single submitter
developmental and epileptic encephalopathy, 21
-
NECAP1 p.Arg146Leu
Uncertain significance
Single submitter
developmental and epileptic encephalopathy, 21
-
NECAP1 p.Asp115Glu
Uncertain significance
Single submitter
Inborn genetic diseases
-
NECAP1 p.Gln274His
Uncertain significance
Single submitter
developmental and epileptic encephalopathy, 21
-
NECAP1 p.Leu229Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
NECAP1 p.Lys148Glu
Uncertain significance
Single submitter
developmental and epileptic encephalopathy, 21
-
NECAP1 p.Lys59Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
NECAP1 p.Pro189Thr
Uncertain significance
Single submitter
NECAP1-related disorder
-
NECAP1 p.Ser202Phe
Uncertain significance
Single submitter
Inborn genetic diseases
-
NECAP1 p.Ser218Phe
Uncertain significance
Single submitter
developmental and epileptic encephalopathy, 21
-
NECAP1 p.Ser218Tyr
Uncertain significance
Single submitter
developmental and epileptic encephalopathy, 21
-
NECAP1 p.Ser261Cys
Uncertain significance
Single submitter
developmental and epileptic encephalopathy, 21
-
NECAP1 p.Thr44Asn
Uncertain significance
Single submitter
developmental and epileptic encephalopathy, 21
-
NECAP1 p.Val273Ala
Uncertain significance
Single submitter
developmental and epileptic encephalopathy, 21
All NECAP1 variants
Pathogenic 3
- p.Asp87fs Single submitter developmental and epileptic encephalopathy, 21
- c.301+1G>A No assertion criteria developmental and epileptic encephalopathy, 21
- p.Val13fs No assertion criteria
Pathogenic/Likely pathogenic 1
- p.Arg48Ter No assertion criteria developmental and epileptic encephalopathy, 21
Conflicting classifications of pathogenicity 1
- p.Asp224Asn Single submitter developmental and epileptic encephalopathy, 21 ⚠
Benign 4
- c.384-33C>G Single submitter
- c.492+15del Single submitter developmental and epileptic encephalopathy, 21
- c.677-17del Single submitter developmental and epileptic encephalopathy, 21
- c.779+68T>C Single submitter
Benign/Likely benign 1
- c.492+19A>G Multiple submitters developmental and epileptic encephalopathy, 21
Likely benign 83
- c.301+15A>C Multiple submitters developmental and epileptic encephalopathy, 21
- p.Gly172= Multiple submitters developmental and epileptic encephalopathy, 21
- p.Ile163= Multiple submitters developmental and epileptic encephalopathy, 21
- p.Leu38= Multiple submitters developmental and epileptic encephalopathy, 21
- p.Leu60= Multiple submitters developmental and epileptic encephalopathy, 21
- p.Pro216= Multiple submitters developmental and epileptic encephalopathy, 21
- p.Thr84= Multiple submitters developmental and epileptic encephalopathy, 21
- c.196+11C>T Single submitter developmental and epileptic encephalopathy, 21
- c.196+12G>A Single submitter developmental and epileptic encephalopathy, 21
- c.196+12G>C Single submitter developmental and epileptic encephalopathy, 21
- c.196+18C>T Single submitter developmental and epileptic encephalopathy, 21
- c.196+19C>T Single submitter developmental and epileptic encephalopathy, 21
- c.196+20C>G Single submitter developmental and epileptic encephalopathy, 21
- c.196+20C>T Single submitter developmental and epileptic encephalopathy, 21
- c.197-12C>T Single submitter developmental and epileptic encephalopathy, 21
- c.197-16T>C Single submitter developmental and epileptic encephalopathy, 21
- c.197-19T>C Single submitter developmental and epileptic encephalopathy, 21
- c.197-5G>C Single submitter developmental and epileptic encephalopathy, 21
- c.197-8T>C Single submitter developmental and epileptic encephalopathy, 21
- c.301+13G>A Single submitter developmental and epileptic encephalopathy, 21
- c.301+14G>A Single submitter developmental and epileptic encephalopathy, 21
- c.302-11G>A Single submitter developmental and epileptic encephalopathy, 21
- c.302-11G>T Single submitter developmental and epileptic encephalopathy, 21
- c.302-13A>G Single submitter developmental and epileptic encephalopathy, 21
- c.302-5C>T Single submitter developmental and epileptic encephalopathy, 21
- c.383+10G>C Single submitter developmental and epileptic encephalopathy, 21
- c.383+11dup Single submitter developmental and epileptic encephalopathy, 21
- c.383+13del Single submitter developmental and epileptic encephalopathy, 21
- c.383+13T>A Single submitter developmental and epileptic encephalopathy, 21
- c.383+15T>C Single submitter developmental and epileptic encephalopathy, 21
- c.383+19T>G Single submitter developmental and epileptic encephalopathy, 21
- c.384-12G>A Single submitter developmental and epileptic encephalopathy, 21
- c.384-14C>A Single submitter developmental and epileptic encephalopathy, 21
- c.384-14C>T Single submitter developmental and epileptic encephalopathy, 21
- c.384-15G>A Single submitter developmental and epileptic encephalopathy, 21
- c.384-19A>G Single submitter developmental and epileptic encephalopathy, 21
- c.492+15T>C Single submitter developmental and epileptic encephalopathy, 21
- c.492+18A>T Single submitter developmental and epileptic encephalopathy, 21
- c.492+7A>G Single submitter developmental and epileptic encephalopathy, 21
- c.493-6T>C Single submitter developmental and epileptic encephalopathy, 21
- c.676+10G>A Single submitter developmental and epileptic encephalopathy, 21
- c.676+15T>C Single submitter developmental and epileptic encephalopathy, 21
- c.676+16C>G Single submitter developmental and epileptic encephalopathy, 21
- c.676+18A>G Single submitter developmental and epileptic encephalopathy, 21
- c.676+9A>G Single submitter developmental and epileptic encephalopathy, 21
- c.677-12C>T Single submitter developmental and epileptic encephalopathy, 21
- c.779+12A>G Single submitter developmental and epileptic encephalopathy, 21
- c.779+19C>T Single submitter developmental and epileptic encephalopathy, 21
- c.780-12_780-10del Single submitter developmental and epileptic encephalopathy, 21
- c.780-13T>C Single submitter developmental and epileptic encephalopathy, 21
- c.780-6T>C Single submitter
- c.780-7C>G Single submitter developmental and epileptic encephalopathy, 21
- c.95+16C>T Single submitter developmental and epileptic encephalopathy, 21
- c.95+9C>T Single submitter developmental and epileptic encephalopathy, 21
- c.96-15C>T Single submitter developmental and epileptic encephalopathy, 21
- p.Ala241= Single submitter developmental and epileptic encephalopathy, 21
- p.Ala70= Single submitter developmental and epileptic encephalopathy, 21
- p.Arg177= Single submitter developmental and epileptic encephalopathy, 21
- p.Asn264= Single submitter
- p.Asp39= Single submitter developmental and epileptic encephalopathy, 21
- p.Asp42= Single submitter developmental and epileptic encephalopathy, 21
- p.Gln124= Single submitter developmental and epileptic encephalopathy, 21
- p.Gln268= Single submitter developmental and epileptic encephalopathy, 21
- p.Gln76= Single submitter developmental and epileptic encephalopathy, 21
- p.Glu139= Single submitter developmental and epileptic encephalopathy, 21
- p.Gly152= Single submitter
- p.Gly182= Single submitter developmental and epileptic encephalopathy, 21
- p.Gly193= Single submitter developmental and epileptic encephalopathy, 21
- p.Ile227= Single submitter developmental and epileptic encephalopathy, 21
- p.Lys131= Single submitter developmental and epileptic encephalopathy, 21
- p.Phe105= Single submitter developmental and epileptic encephalopathy, 21
- p.Phe117= Single submitter developmental and epileptic encephalopathy, 21
- p.Pro190= Single submitter developmental and epileptic encephalopathy, 21
- p.Pro191= Single submitter developmental and epileptic encephalopathy, 21
- p.Pro198= Single submitter developmental and epileptic encephalopathy, 21
- p.Pro41= Single submitter
- p.Ser140= Single submitter developmental and epileptic encephalopathy, 21
- p.Ser185= Single submitter developmental and epileptic encephalopathy, 21
- p.Ser270= Single submitter developmental and epileptic encephalopathy, 21
- p.Thr238= Single submitter developmental and epileptic encephalopathy, 21
- p.Thr239= Single submitter
- p.Val130= Single submitter
- p.Val237Leu Single submitter developmental and epileptic encephalopathy, 21
Uncertain significance 101
- p.Ala173Val Multiple submitters Inborn genetic diseases ⚠
- p.Arg102His Multiple submitters developmental and epileptic encephalopathy, 21 ⚠
- p.Arg146His Multiple submitters developmental and epileptic encephalopathy, 21 ⚠
- p.Arg46Cys Multiple submitters developmental and epileptic encephalopathy, 21 ⚠
- p.Asp118Asn Multiple submitters developmental and epileptic encephalopathy, 21 ⚠
- p.Gly253Glu Multiple submitters Inborn genetic diseases ⚠
- p.Gly45Ala Multiple submitters developmental and epileptic encephalopathy, 21 ⚠
- p.His126Tyr Multiple submitters Inborn genetic diseases ⚠
- p.Ile163Val Multiple submitters developmental and epileptic encephalopathy, 21 ⚠
- p.Lys194Arg Multiple submitters developmental and epileptic encephalopathy, 21 ⚠
- p.Pro190Leu Multiple submitters developmental and epileptic encephalopathy, 21 ⚠
- p.Pro214Ser Multiple submitters Inborn genetic diseases ⚠
- p.Pro216Leu Multiple submitters Inborn genetic diseases ⚠
- p.Pro236Ser Multiple submitters Inborn genetic diseases ⚠
- p.Thr111Ala Multiple submitters Inborn genetic diseases ⚠
- p.Thr84Met Multiple submitters Inborn genetic diseases ⚠
- c.302-12C>G Single submitter developmental and epileptic encephalopathy, 21
- c.383+3G>T Single submitter developmental and epileptic encephalopathy, 21
- c.492+3G>A Single submitter developmental and epileptic encephalopathy, 21
- c.96-4C>T Single submitter
- p.Ala116Ser Single submitter developmental and epileptic encephalopathy, 21 ⚠
- p.Ala145Gly Single submitter Inborn genetic diseases ⚠
- p.Ala225Gly Single submitter developmental and epileptic encephalopathy, 21 ⚠
- p.Ala258Thr Single submitter developmental and epileptic encephalopathy, 21 ⚠
- p.Ala266Val Single submitter developmental and epileptic encephalopathy, 21 ⚠
- p.Ala26Val Single submitter developmental and epileptic encephalopathy, 21 ⚠
- p.Ala72Ser Single submitter developmental and epileptic encephalopathy, 21 ⚠
- p.Ala81Ser Single submitter developmental and epileptic encephalopathy, 21 ⚠
- p.Arg113Gln Single submitter developmental and epileptic encephalopathy, 21 ⚠
- p.Arg113Trp Single submitter developmental and epileptic encephalopathy, 21 ⚠
- p.Arg146Cys Single submitter developmental and epileptic encephalopathy, 21 ⚠
- p.Arg146Leu Single submitter developmental and epileptic encephalopathy, 21 ⚠
- p.Arg180Lys Single submitter developmental and epileptic encephalopathy, 21 ⚠
- p.Arg46His Single submitter developmental and epileptic encephalopathy, 21 ⚠
- p.Arg48Gln Single submitter Inborn genetic diseases ⚠
- p.Arg90Cys Single submitter developmental and epileptic encephalopathy, 21 ⚠
- p.Arg95Gln Single submitter Inborn genetic diseases ⚠
- p.Arg95Trp Single submitter ⚠
- p.Asn249Ser Single submitter developmental and epileptic encephalopathy, 21 ⚠
- p.Asn264Asp Single submitter developmental and epileptic encephalopathy, 21 ⚠
- p.Asn264Ser Single submitter developmental and epileptic encephalopathy, 21 ⚠
- p.Asn271Ser Single submitter developmental and epileptic encephalopathy, 21 ⚠
- p.Asp115Glu Single submitter Inborn genetic diseases ⚠
- p.Asp144Asn Single submitter developmental and epileptic encephalopathy, 21 ⚠
- p.Asp150Gly Single submitter developmental and epileptic encephalopathy, 21 ⚠
- p.Gln141Arg Single submitter developmental and epileptic encephalopathy, 21 ⚠
- p.Gln265Leu Single submitter developmental and epileptic encephalopathy, 21 ⚠
- p.Gln274His Single submitter developmental and epileptic encephalopathy, 21 ⚠
- p.Gln97His Single submitter ⚠
- p.Glu133Gly Single submitter developmental and epileptic encephalopathy, 21
- p.Glu61Val Single submitter ⚠
- p.Gly107Val Single submitter ⚠
- p.Gly172Asp Single submitter developmental and epileptic encephalopathy, 21 ⚠
- p.Gly172Val Single submitter developmental and epileptic encephalopathy, 21 ⚠
- p.Gly181Ala Single submitter developmental and epileptic encephalopathy, 21 ⚠
- p.Gly222Ser Single submitter developmental and epileptic encephalopathy, 21 ⚠
- p.Gly253Arg Single submitter ⚠
- p.Gly53Ala Single submitter Inborn genetic diseases ⚠
- p.Gly79Asp Single submitter developmental and epileptic encephalopathy, 21 ⚠
- p.Leu229Ser Single submitter Inborn genetic diseases ⚠
- p.Leu251Phe Single submitter developmental and epileptic encephalopathy, 21 ⚠
- p.Leu251Val Single submitter Inborn genetic diseases ⚠
- p.Leu60Phe Single submitter developmental and epileptic encephalopathy, 21 ⚠
- p.Leu60Pro Single submitter Inborn genetic diseases ⚠
- p.Lys148Glu Single submitter developmental and epileptic encephalopathy, 21 ⚠
- p.Lys160Thr Single submitter developmental and epileptic encephalopathy, 21 ⚠
- p.Lys194Ile Single submitter developmental and epileptic encephalopathy, 21 ⚠
- p.Lys54Thr Single submitter developmental and epileptic encephalopathy, 21 ⚠
- p.Lys59Arg Single submitter Inborn genetic diseases ⚠
- p.Met143Val Single submitter developmental and epileptic encephalopathy, 21 ⚠
- p.Phe255= Single submitter developmental and epileptic encephalopathy, 21
- p.Phe69Leu Single submitter Inborn genetic diseases ⚠
- p.Pro188Leu Single submitter ⚠
- p.Pro188Thr Single submitter developmental and epileptic encephalopathy, 21 ⚠
- p.Pro189Thr Single submitter NECAP1-related disorder ⚠
- p.Pro190Arg Single submitter developmental and epileptic encephalopathy, 21 ⚠
- p.Pro199Ser Single submitter developmental and epileptic encephalopathy, 21 ⚠
- p.Pro213Ser Single submitter Inborn genetic diseases ⚠
- p.Pro234Ser Single submitter developmental and epileptic encephalopathy, 21 ⚠
- p.Pro23Leu Single submitter developmental and epileptic encephalopathy, 21 ⚠
- p.Pro73Ser Single submitter developmental and epileptic encephalopathy, 21 ⚠
- p.Ser122Cys Single submitter Inborn genetic diseases ⚠
- p.Ser202Phe Single submitter Inborn genetic diseases ⚠
- p.Ser218Phe Single submitter developmental and epileptic encephalopathy, 21 ⚠
- p.Ser218Tyr Single submitter developmental and epileptic encephalopathy, 21 ⚠
- p.Ser260Asn Single submitter developmental and epileptic encephalopathy, 21 ⚠
- p.Ser261Cys Single submitter developmental and epileptic encephalopathy, 21 ⚠
- p.Ser34Thr Single submitter developmental and epileptic encephalopathy, 21 ⚠
- p.Ser65= Single submitter developmental and epileptic encephalopathy, 21
- p.Thr196Pro Single submitter developmental and epileptic encephalopathy, 21 ⚠
- p.Thr238Met Single submitter developmental and epileptic encephalopathy, 21 ⚠
- p.Thr239Ser Single submitter developmental and epileptic encephalopathy, 21 ⚠
- p.Thr243Ala Single submitter developmental and epileptic encephalopathy, 21 ⚠
- p.Thr44Asn Single submitter developmental and epileptic encephalopathy, 21 ⚠
- p.Thr86Ile Single submitter developmental and epileptic encephalopathy, 21 ⚠
- p.Tyr57Cys Single submitter Inborn genetic diseases ⚠
- p.Val210Ala Single submitter developmental and epileptic encephalopathy, 21 ⚠
- p.Val237Ile Single submitter developmental and epileptic encephalopathy, 21 ⚠
- p.Val245Ala Single submitter developmental and epileptic encephalopathy, 21 ⚠
- p.Val273Ala Single submitter developmental and epileptic encephalopathy, 21 ⚠
- p.Val82Met Single submitter developmental and epileptic encephalopathy, 21 ⚠