CERT1 — 249 ClinVar variants
All ClinVar germline CERT1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 114 flagged for review →
4 Pathogenic · 9 Likely pathogenic · 7 Conflicting · 9 Benign · 6 Benign/Likely benign · 60 Likely benign · 154 Uncertain significance
Full CERT1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 114
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.
-
CERT1 p.Thr296Arg
Likely pathogenic
Single submitter
intellectual disability, autosomal dominant 34
Predictors agree, ClinVar conflicts 2
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
-
CERT1 p.Ser132Leu
Conflicting
Single submitter
intellectual disability, autosomal dominant 34
-
CERT1 p.Ser138Phe
Conflicting
Single submitter
intellectual disability, autosomal dominant 34
Predictors lean, ClinVar uncertain 59
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
-
CERT1 p.Ala538Val
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CERT1 p.Cys185Phe
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CERT1 p.Gly452Asp
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CERT1 p.Val434Ile
Uncertain significance
Multiple submitters
intellectual disability, autosomal dominant 34
-
CERT1 p.Val506Ile
Uncertain significance
Multiple submitters
intellectual disability, autosomal dominant 34
-
CERT1 p.Ala140Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
CERT1 p.Ala245Val
Uncertain significance
Single submitter
intellectual disability, autosomal dominant 34
-
CERT1 p.Ala358Gly
Uncertain significance
Single submitter
intellectual disability, autosomal dominant 34
-
CERT1 p.Ala358Val
Uncertain significance
Single submitter
Inborn genetic diseases
- CERT1 p.Ala449Val Uncertain significance Single submitter
- CERT1 p.Ala591Ser Uncertain significance Single submitter
-
CERT1 p.Arg211Cys
Uncertain significance
Single submitter
Inborn genetic diseases
-
CERT1 p.Arg43Cys
Uncertain significance
Single submitter
Inborn genetic diseases
-
CERT1 p.Arg543Gln
Uncertain significance
Single submitter
Inborn genetic diseases
- CERT1 p.Arg546Cys Uncertain significance Single submitter
- CERT1 p.Arg608Cys Uncertain significance Single submitter
- CERT1 p.Arg608Leu Uncertain significance Single submitter
- CERT1 p.Asp206Val Uncertain significance Single submitter
-
CERT1 p.Asp240Tyr
Uncertain significance
Single submitter
Inborn genetic diseases
- CERT1 p.Cys172Arg Uncertain significance Single submitter
- CERT1 p.Gln333His Uncertain significance Single submitter
- CERT1 p.Gly243Glu Uncertain significance Single submitter
- CERT1 p.Gly254Glu Uncertain significance Single submitter
-
CERT1 p.His261Arg
Uncertain significance
Single submitter
Inborn genetic diseases
- CERT1 p.His456Gln Uncertain significance Single submitter
-
CERT1 p.Ile239Val
Uncertain significance
Single submitter
intellectual disability, autosomal dominant 34
-
CERT1 p.Ile88Val
Uncertain significance
Single submitter
Inborn genetic diseases
- CERT1 p.Leu383Val Uncertain significance Single submitter
-
CERT1 p.Lys224Glu
Uncertain significance
Single submitter
Inborn genetic diseases
-
CERT1 p.Lys275Arg
Uncertain significance
Single submitter
Inborn genetic diseases
- CERT1 p.Lys335Glu Uncertain significance Single submitter
-
CERT1 p.Met295Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
CERT1 p.Met378Val
Uncertain significance
Single submitter
Inborn genetic diseases
- CERT1 p.Met405Val Uncertain significance Single submitter
-
CERT1 p.Met427Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
CERT1 p.Pro16Leu
Uncertain significance
Single submitter
Inborn genetic diseases
- CERT1 p.Pro500Thr Uncertain significance Single submitter
-
CERT1 p.Ser219Gly
Uncertain significance
Single submitter
Inborn genetic diseases
-
CERT1 p.Ser352Ala
Uncertain significance
Single submitter
Inborn genetic diseases
-
CERT1 p.Ser395Ala
Uncertain significance
Single submitter
Inborn genetic diseases
-
CERT1 p.Ser537Asn
Uncertain significance
Single submitter
Inborn genetic diseases
-
CERT1 p.Ser569Asn
Uncertain significance
Single submitter
Inborn genetic diseases
-
CERT1 p.Ser93Asn
Uncertain significance
Single submitter
Inborn genetic diseases
- CERT1 p.Thr210Ala Uncertain significance Single submitter
-
CERT1 p.Thr351Ile
Uncertain significance
Single submitter
Inborn genetic diseases
-
CERT1 p.Thr364Ala
Uncertain significance
Single submitter
Inborn genetic diseases
-
CERT1 p.Tyr291Phe
Uncertain significance
Single submitter
Inborn genetic diseases
- CERT1 p.Tyr430Cys Uncertain significance Single submitter
- CERT1 p.Tyr508Cys Uncertain significance Single submitter
- CERT1 p.Tyr96Cys Uncertain significance Single submitter
-
CERT1 p.Val267Ala
Uncertain significance
Single submitter
Inborn genetic diseases
- CERT1 p.Val384Leu Uncertain significance Single submitter
- CERT1 p.Val401Leu Uncertain significance Single submitter
-
CERT1 p.Val434Gly
Uncertain significance
Single submitter
intellectual disability, autosomal dominant 34
- CERT1 p.Val465Ala Uncertain significance Single submitter
- CERT1 p.Val545Ile Uncertain significance Single submitter
-
CERT1 p.Val559Ile
Uncertain significance
Single submitter
intellectual disability, autosomal dominant 34
-
CERT1 p.Arg546His
Uncertain significance
No assertion criteria
intellectual disability, autosomal dominant 34
-
CERT1 p.Leu127Ser
Uncertain significance
No assertion criteria
intellectual disability, autosomal dominant 34
Predictors split 52
The independent predictors disagree with each other — read with care.
- CERT1 p.Arg158His Benign/Likely benign Multiple submitters
-
CERT1 p.Asp80Asn
Uncertain significance
Multiple submitters
intellectual disability, autosomal dominant 34
- CERT1 p.Lys48Asn Uncertain significance Multiple submitters
-
CERT1 p.Met133Val
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CERT1 p.Pro539Leu
Likely benign
Multiple submitters
Inborn genetic diseases
-
CERT1 p.Tyr372Cys
Likely benign
Multiple submitters
Inborn genetic diseases
- CERT1 p.Ala257Pro Uncertain significance Single submitter
- CERT1 p.Arg128His Uncertain significance Single submitter
- CERT1 p.Arg129Gln Uncertain significance Single submitter
-
CERT1 p.Arg158Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
CERT1 p.Arg269Cys
Likely benign
Single submitter
Inborn genetic diseases
-
CERT1 p.Arg26Pro
Uncertain significance
Single submitter
Inborn genetic diseases
-
CERT1 p.Arg285Gly
Uncertain significance
Single submitter
intellectual disability, autosomal dominant 34
-
CERT1 p.Arg374Cys
Uncertain significance
Single submitter
Inborn genetic diseases
-
CERT1 p.Arg513Gln
Likely benign
Single submitter
Inborn genetic diseases
-
CERT1 p.Asn565Ile
Uncertain significance
Single submitter
Inborn genetic diseases
- CERT1 p.Asp308Asn Uncertain significance Single submitter
- CERT1 p.Asp308Val Uncertain significance Single submitter
- CERT1 p.Asp522Tyr Uncertain significance Single submitter
-
CERT1 p.Gln106Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
CERT1 p.Glu113Gln
Uncertain significance
Single submitter
Inborn genetic diseases
-
CERT1 p.Glu124Gln
Conflicting
Single submitter
Inborn genetic diseases
- CERT1 p.Glu159Lys Likely pathogenic Single submitter
-
CERT1 p.Glu282Asp
Uncertain significance
Single submitter
Inborn genetic diseases
-
CERT1 p.Glu399Asp
Uncertain significance
Single submitter
Inborn genetic diseases
- CERT1 p.Glu524Lys Uncertain significance Single submitter
-
CERT1 p.Glu83Gln
Uncertain significance
Single submitter
Inborn genetic diseases
- CERT1 p.His38Arg Uncertain significance Single submitter
-
CERT1 p.His404Gln
Uncertain significance
Single submitter
intellectual disability, autosomal dominant 34
-
CERT1 p.His456Arg
Conflicting
Single submitter
Inborn genetic diseases
-
CERT1 p.His535Tyr
Uncertain significance
Single submitter
Inborn genetic diseases
- CERT1 p.Ile109Thr Uncertain significance Single submitter
- CERT1 p.Ile475Thr Uncertain significance Single submitter
-
CERT1 p.Leu330Val
Uncertain significance
Single submitter
Inborn genetic diseases
- CERT1 p.Lys116Arg Uncertain significance Single submitter
-
CERT1 p.Phe531Ser
Uncertain significance
Single submitter
Inborn genetic diseases
- CERT1 p.Pro523Leu Uncertain significance Single submitter
-
CERT1 p.Pro621Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
CERT1 p.Ser302Tyr
Uncertain significance
Single submitter
intellectual disability, autosomal dominant 34
- CERT1 p.Ser315Cys Uncertain significance Single submitter
- CERT1 p.Ser385Ile Uncertain significance Single submitter
- CERT1 p.Ser569Ile Uncertain significance Single submitter
-
CERT1 p.Thr166Ala
Likely pathogenic
Single submitter
intellectual disability, autosomal dominant 34
- CERT1 p.Thr578Ala Uncertain significance Single submitter
- CERT1 p.Thr578Ile Uncertain significance Single submitter
- CERT1 p.Tyr291His Uncertain significance Single submitter
- CERT1 p.Val199Met Uncertain significance Single submitter
-
CERT1 p.Val429Ile
Uncertain significance
Single submitter
Inborn genetic diseases
-
CERT1 p.Val480Ala
Uncertain significance
Single submitter
intellectual disability, autosomal dominant 34
- CERT1 p.Val593Leu Uncertain significance Single submitter
-
CERT1 p.Ser57Cys
Uncertain significance
No assertion criteria
CERT1-related disorder
-
CERT1 p.Thr210Met
Likely benign
No assertion criteria
CERT1-related disorder
All CERT1 variants
Pathogenic 4
- c.-114G>T Single submitter intellectual disability, autosomal dominant 34
- p.Glu321del Single submitter
- p.Ser132Pro Single submitter
- p.Thr247Ile Single submitter
Likely pathogenic 9
- p.Ser135Phe Multiple submitters Inborn genetic diseases
- p.Ala581Val Single submitter intellectual disability, autosomal dominant 34
- p.Glu159Lys Single submitter ⚠
- p.Gly243Ala Single submitter intellectual disability, autosomal dominant 34
- p.Gly64Val Single submitter intellectual disability, autosomal dominant 34
- p.Ser57Tyr Single submitter
- p.Thr166Ala Single submitter intellectual disability, autosomal dominant 34 ⚠
- p.Thr296Arg Single submitter intellectual disability, autosomal dominant 34 ⚠
- c.-226G>A No assertion criteria
Conflicting classifications of pathogenicity 7
- c.-205G>A Single submitter
- c.-236C>A Single submitter intellectual disability, autosomal dominant 34
- c.-251C>T Single submitter Inborn genetic diseases
- p.Glu124Gln Single submitter Inborn genetic diseases ⚠
- p.His456Arg Single submitter Inborn genetic diseases ⚠
- p.Ser132Leu Single submitter intellectual disability, autosomal dominant 34 ⚠
- p.Ser138Phe Single submitter intellectual disability, autosomal dominant 34 ⚠
Benign 9
- c.-168C>G Multiple submitters
- c.*10-7C>T Multiple submitters
- p.Glu457= Multiple submitters
- c.1489-6C>T Single submitter
- c.457-12T>G Single submitter
- c.-30G>A Single submitter
- p.Gly28= Single submitter
- p.Leu409= Single submitter
- c.1189-8T>C No assertion criteria CERT1-related disorder
Benign/Likely benign 6
- c.1284+8C>T Multiple submitters
- c.-84G>A Multiple submitters
- p.Arg158His Multiple submitters ⚠
- p.Arg600= Multiple submitters
- p.Ser150= Multiple submitters
- p.Val368= Multiple submitters
Likely benign 60
- c.931-7G>C Multiple submitters
- c.-80C>T Multiple submitters
- p.Ile489Val Multiple submitters Inborn genetic diseases
- p.Leu574= Multiple submitters
- p.Phe19Val Multiple submitters intellectual disability, autosomal dominant 34
- p.Pro539Leu Multiple submitters Inborn genetic diseases ⚠
- p.Ser2= Multiple submitters
- p.Ser611= Multiple submitters
- p.Tyr372Cys Multiple submitters Inborn genetic diseases ⚠
- p.Val29Ile Multiple submitters Inborn genetic diseases
- c.1418-16_1418-14del Single submitter
- c.1489-6_1489-5insA Single submitter
- c.1748-4G>A Single submitter
- c.349-3dup Single submitter intellectual disability, autosomal dominant 34
- c.456+8G>C Single submitter
- c.596-8T>C Single submitter
- c.86+13A>T Single submitter
- c.96+19C>T Single submitter
- c.-123C>G Single submitter Inborn genetic diseases
- c.-140C>T Single submitter Inborn genetic diseases
- c.-183G>T Single submitter
- c.-202C>T Single submitter
- c.-221G>A Single submitter Inborn genetic diseases
- c.-242C>T Single submitter Inborn genetic diseases
- c.-249_-241dup Single submitter
- c.-52C>T Single submitter
- c.-75C>T Single submitter Inborn genetic diseases
- c.-89C>T Single submitter Inborn genetic diseases
- c.*10-8del Single submitter
- c.*9+5158G>A Single submitter
- c.*9+5200dup Single submitter
- c.*9+5291A>G Single submitter
- p.Ala111= Single submitter
- p.Ala245= Single submitter
- p.Ala358= Single submitter
- p.Ala581= Single submitter
- p.Arg269Cys Single submitter Inborn genetic diseases ⚠
- p.Arg504= Single submitter
- p.Arg513Gln Single submitter Inborn genetic diseases ⚠
- p.Gln341Lys Single submitter Inborn genetic diseases
- p.Gln369= Single submitter
- p.Gly222Ser Single submitter Inborn genetic diseases
- p.Gly312= Single submitter
- p.Leu136= Single submitter
- p.Phe19Cys Single submitter
- p.Pro12= Single submitter
- p.Pro22Ser Single submitter Inborn genetic diseases
- p.Pro562= Single submitter
- p.Ser219Asn Single submitter Inborn genetic diseases
- p.Ser395= Single submitter
- p.Ser569= Single submitter
- p.Thr578= Single submitter
- p.Val429= Single submitter
- c.-255ACGGCG[3] No assertion criteria CERT1-related disorder
- p.Asn221= No assertion criteria CERT1-related disorder
- p.Asn318= No assertion criteria CERT1-related disorder
- p.Ile439= No assertion criteria CERT1-related disorder
- p.Leu347= No assertion criteria CERT1-related disorder
- p.Leu507= No assertion criteria CERT1-related disorder
- p.Thr210Met No assertion criteria CERT1-related disorder ⚠
Uncertain significance 154
- c.-121del Multiple submitters intellectual disability, autosomal dominant 34
- c.-162_-152del Multiple submitters microcephaly
- c.-195C>T Multiple submitters Inborn genetic diseases
- p.Ala538Val Multiple submitters Inborn genetic diseases ⚠
- p.Asp80Asn Multiple submitters intellectual disability, autosomal dominant 34 ⚠
- p.Cys185Phe Multiple submitters Inborn genetic diseases ⚠
- p.Gly452Asp Multiple submitters Inborn genetic diseases ⚠
- p.Lys48Asn Multiple submitters ⚠
- p.Met133Val Multiple submitters Inborn genetic diseases ⚠
- p.Val434Ile Multiple submitters intellectual disability, autosomal dominant 34 ⚠
- p.Val506Ile Multiple submitters intellectual disability, autosomal dominant 34 ⚠
- c.1018-1G>T Single submitter intellectual disability, autosomal dominant 34
- c.1284+1G>A Single submitter
- c.595+5A>C Single submitter
- c.-108G>A Single submitter Inborn genetic diseases
- c.-115G>C Single submitter
- c.-122C>A Single submitter Inborn genetic diseases
- c.-140C>A Single submitter intellectual disability, autosomal dominant 34
- c.-14G>T Single submitter Inborn genetic diseases
- c.-150C>T Single submitter Inborn genetic diseases
- c.-155G>A Single submitter
- c.-15G>T Single submitter Inborn genetic diseases
- c.-171G>A Single submitter
- c.-172G>C Single submitter Inborn genetic diseases
- c.-176G>C Single submitter Inborn genetic diseases
- c.-185C>T Single submitter Inborn genetic diseases
- c.-189C>T Single submitter Inborn genetic diseases
- c.-191C>T Single submitter
- c.-197T>C Single submitter Inborn genetic diseases
- c.-199CCT[1] Single submitter
- c.-200T>C Single submitter
- c.-207C>G Single submitter Inborn genetic diseases
- c.-213C>G Single submitter
- c.-232C>A Single submitter Inborn genetic diseases
- c.-236C>G Single submitter Inborn genetic diseases
- c.-240G>T Single submitter
- c.-245C>T Single submitter Inborn genetic diseases
- c.-251C>A Single submitter Inborn genetic diseases
- c.-281del Single submitter intellectual disability, autosomal dominant 34
- c.-287C>T Single submitter
- c.-297G>T Single submitter Inborn genetic diseases
- c.-35C>T Single submitter Inborn genetic diseases
- c.-41A>T Single submitter intellectual disability, autosomal dominant 34
- c.-57T>G Single submitter Inborn genetic diseases
- c.-63G>C Single submitter Inborn genetic diseases
- c.-68G>A Single submitter Inborn genetic diseases
- c.-78T>C Single submitter Inborn genetic diseases
- c.-79_-77dup Single submitter Inborn genetic diseases
- c.-81C>T Single submitter Inborn genetic diseases
- p.Ala140Val Single submitter Inborn genetic diseases ⚠
- p.Ala15Ser Single submitter
- p.Ala18Pro Single submitter Inborn genetic diseases
- p.Ala245Val Single submitter intellectual disability, autosomal dominant 34 ⚠
- p.Ala257Pro Single submitter ⚠
- p.Ala358Gly Single submitter intellectual disability, autosomal dominant 34 ⚠
- p.Ala358Val Single submitter Inborn genetic diseases ⚠
- p.Ala449Val Single submitter ⚠
- p.Ala591Ser Single submitter ⚠
- p.Arg128His Single submitter ⚠
- p.Arg129Gln Single submitter ⚠
- p.Arg158Leu Single submitter Inborn genetic diseases ⚠
- p.Arg211Cys Single submitter Inborn genetic diseases ⚠
- p.Arg26Pro Single submitter Inborn genetic diseases ⚠
- p.Arg285Gly Single submitter intellectual disability, autosomal dominant 34 ⚠
- p.Arg374Cys Single submitter Inborn genetic diseases ⚠
- p.Arg43Cys Single submitter Inborn genetic diseases ⚠
- p.Arg543Gln Single submitter Inborn genetic diseases ⚠
- p.Arg546Cys Single submitter ⚠
- p.Arg608Cys Single submitter ⚠
- p.Arg608Leu Single submitter ⚠
- p.Asn565Ile Single submitter Inborn genetic diseases ⚠
- p.Asp206Val Single submitter ⚠
- p.Asp240Tyr Single submitter Inborn genetic diseases ⚠
- p.Asp308Asn Single submitter ⚠
- p.Asp308Val Single submitter ⚠
- p.Asp522Tyr Single submitter ⚠
- p.Cys172Arg Single submitter ⚠
- p.Gln106Arg Single submitter Inborn genetic diseases ⚠
- p.Gln2del Single submitter
- p.Gln333His Single submitter ⚠
- p.Glu113Gln Single submitter Inborn genetic diseases ⚠
- p.Glu201del Single submitter
- p.Glu26Lys Single submitter
- p.Glu282Asp Single submitter Inborn genetic diseases ⚠
- p.Glu399Asp Single submitter Inborn genetic diseases ⚠
- p.Glu524Lys Single submitter ⚠
- p.Glu83Gln Single submitter Inborn genetic diseases ⚠
- p.Gly243Glu Single submitter ⚠
- p.Gly254Glu Single submitter ⚠
- p.His261Arg Single submitter Inborn genetic diseases ⚠
- p.His38Arg Single submitter ⚠
- p.His404Gln Single submitter intellectual disability, autosomal dominant 34 ⚠
- p.His456Gln Single submitter ⚠
- p.His535Tyr Single submitter Inborn genetic diseases ⚠
- p.Ile109Thr Single submitter ⚠
- p.Ile239Val Single submitter intellectual disability, autosomal dominant 34 ⚠
- p.Ile475Thr Single submitter ⚠
- p.Ile88Val Single submitter Inborn genetic diseases ⚠
- p.Leu330Val Single submitter Inborn genetic diseases ⚠
- p.Leu383Val Single submitter ⚠
- p.Lys116Arg Single submitter ⚠
- p.Lys224Glu Single submitter Inborn genetic diseases ⚠
- p.Lys275Arg Single submitter Inborn genetic diseases ⚠
- p.Lys335Glu Single submitter ⚠
- p.Lys370= Single submitter
- p.Met295Val Single submitter Inborn genetic diseases ⚠
- p.Met378Val Single submitter Inborn genetic diseases ⚠
- p.Met405Val Single submitter ⚠
- p.Met427Thr Single submitter Inborn genetic diseases ⚠
- p.Phe13Ile Single submitter
- p.Phe531Ser Single submitter Inborn genetic diseases ⚠
- p.Pro16Leu Single submitter Inborn genetic diseases ⚠
- p.Pro500Thr Single submitter ⚠
- p.Pro523Leu Single submitter ⚠
- p.Pro621Ser Single submitter Inborn genetic diseases ⚠
- p.Pro9Leu Single submitter Inborn genetic diseases
- p.Ser219Gly Single submitter Inborn genetic diseases ⚠
- p.Ser302Tyr Single submitter intellectual disability, autosomal dominant 34 ⚠
- p.Ser315Cys Single submitter ⚠
- p.Ser352Ala Single submitter Inborn genetic diseases ⚠
- p.Ser385Ile Single submitter ⚠
- p.Ser395Ala Single submitter Inborn genetic diseases ⚠
- p.Ser502fs Single submitter
- p.Ser537Asn Single submitter Inborn genetic diseases ⚠
- p.Ser569Asn Single submitter Inborn genetic diseases ⚠
- p.Ser569Ile Single submitter ⚠
- p.Ser93Asn Single submitter Inborn genetic diseases ⚠
- p.Thr210Ala Single submitter ⚠
- p.Thr351Ile Single submitter Inborn genetic diseases ⚠
- p.Thr364Ala Single submitter Inborn genetic diseases ⚠
- p.Thr578Ala Single submitter ⚠
- p.Thr578Ile Single submitter ⚠
- p.Tyr291His Single submitter ⚠
- p.Tyr291Phe Single submitter Inborn genetic diseases ⚠
- p.Tyr430Cys Single submitter ⚠
- p.Tyr508Cys Single submitter ⚠
- p.Tyr96Cys Single submitter ⚠
- p.Val199Met Single submitter ⚠
- p.Val267Ala Single submitter Inborn genetic diseases ⚠
- p.Val384Leu Single submitter ⚠
- p.Val401Leu Single submitter ⚠
- p.Val429Ile Single submitter Inborn genetic diseases ⚠
- p.Val434Gly Single submitter intellectual disability, autosomal dominant 34 ⚠
- p.Val465Ala Single submitter ⚠
- p.Val480Ala Single submitter intellectual disability, autosomal dominant 34 ⚠
- p.Val545Ile Single submitter ⚠
- p.Val559Ile Single submitter intellectual disability, autosomal dominant 34 ⚠
- p.Val583= Single submitter
- p.Val593Leu Single submitter ⚠
- p.Ala446fs No assertion criteria intellectual disability, autosomal dominant 34
- p.Arg546His No assertion criteria intellectual disability, autosomal dominant 34 ⚠
- p.Leu127Ser No assertion criteria intellectual disability, autosomal dominant 34 ⚠
- p.Ser57Cys No assertion criteria CERT1-related disorder ⚠
- p.Val23Ile No assertion criteria intellectual disability, autosomal dominant 34