CLASP1 — 171 ClinVar variants
All ClinVar germline CLASP1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 132 flagged for review →
1 Pathogenic · 5 Pathogenic/Likely pathogenic · 2 Likely pathogenic · 6 Conflicting · 8 Benign · 16 Likely benign · 133 Uncertain significance
Full CLASP1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 132
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 81
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- CLASP1 p.Ala10Val Uncertain significance Single submitter
- CLASP1 p.Ala1153Val Uncertain significance Single submitter
- CLASP1 p.Ala123Val Uncertain significance Single submitter
- CLASP1 p.Ala1261Val Uncertain significance Single submitter
- CLASP1 p.Ala1387Val Uncertain significance Single submitter
- CLASP1 p.Ala1406Thr Uncertain significance Single submitter
- CLASP1 p.Arg1204His Uncertain significance Single submitter
- CLASP1 p.Arg1250Pro Uncertain significance Single submitter
- CLASP1 p.Arg1259Trp Uncertain significance Single submitter
- CLASP1 p.Arg1281Gln Uncertain significance Single submitter
- CLASP1 p.Arg1281Gly Uncertain significance Single submitter
- CLASP1 p.Arg1315Gln Uncertain significance Single submitter
- CLASP1 p.Arg367Gly Uncertain significance Single submitter
- CLASP1 p.Arg4Cys Uncertain significance Single submitter
- CLASP1 p.Arg565His Uncertain significance Single submitter
- CLASP1 p.Arg644Gln Uncertain significance Single submitter
- CLASP1 p.Arg754Cys Uncertain significance Single submitter
- CLASP1 p.Asn1037Ser Uncertain significance Single submitter
- CLASP1 p.Asn1336Ser Uncertain significance Single submitter
-
CLASP1 p.Asn231Ser
Uncertain significance
Single submitter
CLASP1-related disorder
- CLASP1 p.Asn652Ser Uncertain significance Single submitter
- CLASP1 p.Asp1298Asn Uncertain significance Single submitter
- CLASP1 p.Asp1310His Uncertain significance Single submitter
- CLASP1 p.Asp1320Asn Uncertain significance Single submitter
- CLASP1 p.Asp1327Glu Uncertain significance Single submitter
- CLASP1 p.Asp360His Uncertain significance Single submitter
- CLASP1 p.Asp827Asn Uncertain significance Single submitter
- CLASP1 p.Asp994His Uncertain significance Single submitter
- CLASP1 p.Gln11His Uncertain significance Single submitter
- CLASP1 p.Glu300Val Uncertain significance Single submitter
- CLASP1 p.Glu715Gly Uncertain significance Single submitter
- CLASP1 p.Gly1150Asp Uncertain significance Single submitter
- CLASP1 p.Gly1251Arg Uncertain significance Single submitter
- CLASP1 p.Gly1252Ser Uncertain significance Single submitter
- CLASP1 p.Gly249Ser Uncertain significance Single submitter
- CLASP1 p.His516Gln Uncertain significance Single submitter
- CLASP1 p.His870Asp Uncertain significance Single submitter
- CLASP1 p.Ile1117Ser Uncertain significance Single submitter
- CLASP1 p.Ile1169Val Uncertain significance Single submitter
- CLASP1 p.Ile1294Val Uncertain significance Single submitter
- CLASP1 p.Ile414Leu Uncertain significance Single submitter
- CLASP1 p.Ile546Thr Uncertain significance Single submitter
- CLASP1 p.Ile948Thr Uncertain significance Single submitter
-
CLASP1 p.Leu114Val
Uncertain significance
Single submitter
CLASP1-related disorder
- CLASP1 p.Leu395Met Uncertain significance Single submitter
- CLASP1 p.Leu815Met Uncertain significance Single submitter
-
CLASP1 p.Lys1056Glu
Uncertain significance
Single submitter
CLASP1-related disorder
- CLASP1 p.Lys1230Arg Uncertain significance Single submitter
- CLASP1 p.Lys830Gln Uncertain significance Single submitter
- CLASP1 p.Met1186Thr Uncertain significance Single submitter
- CLASP1 p.Met1311Ile Uncertain significance Single submitter
- CLASP1 p.Met46Ile Uncertain significance Single submitter
- CLASP1 p.Met748Ile Uncertain significance Single submitter
- CLASP1 p.Met812Val Uncertain significance Single submitter
- CLASP1 p.Pro1161Ser Uncertain significance Single submitter
- CLASP1 p.Pro1224Gln Uncertain significance Single submitter
- CLASP1 p.Pro1278Leu Uncertain significance Single submitter
- CLASP1 p.Pro1318Ser Uncertain significance Single submitter
- CLASP1 p.Pro264Ser Uncertain significance Single submitter
- CLASP1 p.Pro412Leu Uncertain significance Single submitter
- CLASP1 p.Pro709Ser Uncertain significance Single submitter
- CLASP1 p.Pro771Leu Uncertain significance Single submitter
- CLASP1 p.Pro839Ala Uncertain significance Single submitter
- CLASP1 p.Ser1357Asn Uncertain significance Single submitter
- CLASP1 p.Ser1499Asn Uncertain significance Single submitter
- CLASP1 p.Ser285Thr Uncertain significance Single submitter
- CLASP1 p.Ser485Thr Uncertain significance Single submitter
- CLASP1 p.Ser695Gly Uncertain significance Single submitter
- CLASP1 p.Ser695Thr Uncertain significance Single submitter
- CLASP1 p.Ser936Thr Uncertain significance Single submitter
- CLASP1 p.Thr1076Ser Uncertain significance Single submitter
- CLASP1 p.Thr113Ile Uncertain significance Single submitter
- CLASP1 p.Thr1207Ile Uncertain significance Single submitter
- CLASP1 p.Thr56Ala Uncertain significance Single submitter
- CLASP1 p.Thr583Ala Uncertain significance Single submitter
- CLASP1 p.Tyr1290His Uncertain significance Single submitter
- CLASP1 p.Val547Ala Uncertain significance Single submitter
- CLASP1 p.Val584Ile Uncertain significance Single submitter
- CLASP1 p.Val814Ile Uncertain significance Single submitter
-
CLASP1 p.Ala1400Thr
Uncertain significance
No assertion criteria
CLASP1-related disorder
-
CLASP1 p.Gln1218Leu
Uncertain significance
No assertion criteria
CLASP1-related disorder
Predictors split 51
The independent predictors disagree with each other — read with care.
- CLASP1 p.Ala122Val Uncertain significance Single submitter
- CLASP1 p.Ala422Thr Uncertain significance Single submitter
- CLASP1 p.Ala426Ser Uncertain significance Single submitter
- CLASP1 p.Ala635Thr Uncertain significance Single submitter
- CLASP1 p.Arg1119Gln Uncertain significance Single submitter
- CLASP1 p.Arg1147Trp Uncertain significance Single submitter
- CLASP1 p.Arg1238Cys Uncertain significance Single submitter
- CLASP1 p.Arg1281Trp Uncertain significance Single submitter
- CLASP1 p.Arg267Trp Uncertain significance Single submitter
- CLASP1 p.Arg277Gln Uncertain significance Single submitter
- CLASP1 p.Arg277Trp Uncertain significance Single submitter
- CLASP1 p.Arg664Cys Uncertain significance Single submitter
- CLASP1 p.Arg706Gln Uncertain significance Single submitter
- CLASP1 p.Arg717Gln Uncertain significance Single submitter
- CLASP1 p.Arg739Trp Uncertain significance Single submitter
- CLASP1 p.Arg804Gly Uncertain significance Single submitter
- CLASP1 p.Arg859His Uncertain significance Single submitter
- CLASP1 p.Asn156Ile Uncertain significance Single submitter
- CLASP1 p.Asn60Lys Uncertain significance Single submitter
- CLASP1 p.Asn902Lys Uncertain significance Single submitter
- CLASP1 p.Asp1309Gly Uncertain significance Single submitter
- CLASP1 p.Gln213Leu Uncertain significance Single submitter
- CLASP1 p.Gln473Arg Uncertain significance Single submitter
- CLASP1 p.Gly1141Glu Uncertain significance Single submitter
- CLASP1 p.Gly1251Trp Uncertain significance Single submitter
- CLASP1 p.Gly249Asp Uncertain significance Single submitter
- CLASP1 p.Gly661Asp Uncertain significance Single submitter
- CLASP1 p.Gly698Asp Uncertain significance Single submitter
- CLASP1 p.Ile348Met Uncertain significance Single submitter
- CLASP1 p.Leu1482Ile Uncertain significance Single submitter
- CLASP1 p.Leu283Phe Uncertain significance Single submitter
- CLASP1 p.Leu470Val Uncertain significance Single submitter
- CLASP1 p.Leu692Phe Uncertain significance Single submitter
- CLASP1 p.Lys830Asn Uncertain significance Single submitter
- CLASP1 p.Phe220Val Uncertain significance Single submitter
- CLASP1 p.Ser1174Phe Uncertain significance Single submitter
- CLASP1 p.Ser229Cys Uncertain significance Single submitter
- CLASP1 p.Ser531Cys Uncertain significance Single submitter
- CLASP1 p.Ser545Gly Uncertain significance Single submitter
- CLASP1 p.Ser757Gly Uncertain significance Single submitter
- CLASP1 p.Thr621Met Uncertain significance Single submitter
- CLASP1 p.Thr730Arg Uncertain significance Single submitter
- CLASP1 p.Thr819Ile Uncertain significance Single submitter
- CLASP1 p.Trp1149Arg Uncertain significance Single submitter
- CLASP1 p.Tyr359Cys Uncertain significance Single submitter
- CLASP1 p.Tyr871Phe Uncertain significance Single submitter
- CLASP1 p.Val1471Ile Uncertain significance Single submitter
- CLASP1 p.Val342Ile Uncertain significance Single submitter
- CLASP1 p.Val430Gly Uncertain significance Single submitter
- CLASP1 p.Val980Ile Uncertain significance Single submitter
-
CLASP1 p.Ser265Thr
Benign
No assertion criteria
CLASP1-related disorder
All CLASP1 variants
Pathogenic 1
- c.196-600C>T Multiple submitters RNU4ATAC spectrum disorder
Pathogenic/Likely pathogenic 5
- c.196-567G>A Multiple submitters RNU4ATAC spectrum disorder
- c.196-570C>T Multiple submitters RNU4ATAC spectrum disorder
- c.196-594G>A Multiple submitters RNU4ATAC spectrum disorder
- c.196-605C>T Multiple submitters Autosomal recessive RNU4ATAC-related disorders
- c.196-670T>G Multiple submitters RNU4ATAC spectrum disorder
Likely pathogenic 2
- c.196-562G>T Single submitter Lowry-Wood syndrome
- c.196-589T>G Single submitter RNU4ATAC spectrum disorder
Conflicting classifications of pathogenicity 6
- c.196-562G>C Single submitter Roifman syndrome
- c.196-571C>T Single submitter Lowry-Wood syndrome
- c.196-587G>A Single submitter CLASP1-related disorder
- c.196-591C>T Single submitter Lowry-Wood syndrome
- c.196-607G>A Single submitter Lowry-Wood syndrome
- c.196-651dup Single submitter CLASP1-related disorder
Benign 8
- c.196-544G>A Multiple submitters CLASP1-related disorder
- c.196-647C>T Multiple submitters
- p.Pro712= Multiple submitters
- p.Thr1300= Multiple submitters
- c.196-661del Single submitter
- p.Ile437= No assertion criteria CLASP1-related disorder
- p.Ser265Thr No assertion criteria CLASP1-related disorder ⚠
- p.Thr1247Asn No assertion criteria CLASP1-related disorder
Likely benign 16
- c.196-577G>A Multiple submitters CLASP1-related disorder
- c.196-596G>A Multiple submitters RNU4ATAC-related disorder
- c.196-645dup Multiple submitters CLASP1-related disorder
- c.196-679dup Multiple submitters microcephalic osteodysplastic primordial dwarfism type I
- p.Met748Thr Multiple submitters
- c.196-554A>G Single submitter CLASP1-related disorder
- c.196-690G>A Single submitter CLASP1-related disorder
- p.Lys534= Single submitter
- c.196-548G>C No assertion criteria CLASP1-related disorder
- c.4140+10del No assertion criteria CLASP1-related disorder
- c.*2G>A No assertion criteria CLASP1-related disorder
- p.Arg434= No assertion criteria CLASP1-related disorder
- p.Asp1154= No assertion criteria CLASP1-related disorder
- p.Gly867= No assertion criteria CLASP1-related disorder
- p.Pro1287= No assertion criteria CLASP1-related disorder
- p.Pro1287Leu No assertion criteria CLASP1-related disorder
Uncertain significance 133
- c.196-606C>T Single submitter
- c.196-624C>T Single submitter
- p.Ala10Val Single submitter ⚠
- p.Ala1153Val Single submitter ⚠
- p.Ala122Val Single submitter ⚠
- p.Ala123Val Single submitter ⚠
- p.Ala1261Val Single submitter ⚠
- p.Ala1387Val Single submitter ⚠
- p.Ala1406Thr Single submitter ⚠
- p.Ala422Thr Single submitter ⚠
- p.Ala426Ser Single submitter ⚠
- p.Ala635Thr Single submitter ⚠
- p.Arg1119Gln Single submitter ⚠
- p.Arg1147Trp Single submitter ⚠
- p.Arg1204His Single submitter ⚠
- p.Arg1238Cys Single submitter ⚠
- p.Arg1250Pro Single submitter ⚠
- p.Arg1259Trp Single submitter ⚠
- p.Arg1281Gln Single submitter ⚠
- p.Arg1281Gly Single submitter ⚠
- p.Arg1281Trp Single submitter ⚠
- p.Arg1315Gln Single submitter ⚠
- p.Arg267Trp Single submitter ⚠
- p.Arg277Gln Single submitter ⚠
- p.Arg277Trp Single submitter ⚠
- p.Arg367Gly Single submitter ⚠
- p.Arg4Cys Single submitter ⚠
- p.Arg565His Single submitter ⚠
- p.Arg644Gln Single submitter ⚠
- p.Arg664Cys Single submitter ⚠
- p.Arg706Gln Single submitter ⚠
- p.Arg717Gln Single submitter ⚠
- p.Arg739Trp Single submitter ⚠
- p.Arg754Cys Single submitter ⚠
- p.Arg804Gly Single submitter ⚠
- p.Arg859His Single submitter ⚠
- p.Asn1037Ser Single submitter ⚠
- p.Asn1336Ser Single submitter ⚠
- p.Asn156Ile Single submitter ⚠
- p.Asn231Ser Single submitter CLASP1-related disorder ⚠
- p.Asn60Lys Single submitter ⚠
- p.Asn652Ser Single submitter ⚠
- p.Asn902Lys Single submitter ⚠
- p.Asp1298Asn Single submitter ⚠
- p.Asp1309Gly Single submitter ⚠
- p.Asp1310His Single submitter ⚠
- p.Asp1320Asn Single submitter ⚠
- p.Asp1327Glu Single submitter ⚠
- p.Asp360His Single submitter ⚠
- p.Asp827Asn Single submitter ⚠
- p.Asp994His Single submitter ⚠
- p.Gln11His Single submitter ⚠
- p.Gln213Leu Single submitter ⚠
- p.Gln473Arg Single submitter ⚠
- p.Glu300Val Single submitter ⚠
- p.Glu715Gly Single submitter ⚠
- p.Gly1141Glu Single submitter ⚠
- p.Gly1150Asp Single submitter ⚠
- p.Gly1251Arg Single submitter ⚠
- p.Gly1251Trp Single submitter ⚠
- p.Gly1252Ser Single submitter ⚠
- p.Gly249Asp Single submitter ⚠
- p.Gly249Ser Single submitter ⚠
- p.Gly661Asp Single submitter ⚠
- p.Gly698Asp Single submitter ⚠
- p.His516Gln Single submitter ⚠
- p.His870Asp Single submitter ⚠
- p.Ile1117Ser Single submitter ⚠
- p.Ile1169Val Single submitter ⚠
- p.Ile1294Val Single submitter ⚠
- p.Ile348Met Single submitter ⚠
- p.Ile414Leu Single submitter ⚠
- p.Ile546Thr Single submitter ⚠
- p.Ile948Thr Single submitter ⚠
- p.Leu114Val Single submitter CLASP1-related disorder ⚠
- p.Leu1482Ile Single submitter ⚠
- p.Leu283Phe Single submitter ⚠
- p.Leu395Met Single submitter ⚠
- p.Leu470Val Single submitter ⚠
- p.Leu692Phe Single submitter ⚠
- p.Leu815Met Single submitter ⚠
- p.Lys1056Glu Single submitter CLASP1-related disorder ⚠
- p.Lys1230Arg Single submitter ⚠
- p.Lys830Asn Single submitter ⚠
- p.Lys830Gln Single submitter ⚠
- p.Met1186Thr Single submitter ⚠
- p.Met1311Ile Single submitter ⚠
- p.Met46Ile Single submitter ⚠
- p.Met748Ile Single submitter ⚠
- p.Met812Val Single submitter ⚠
- p.Phe220Val Single submitter ⚠
- p.Pro1161Ser Single submitter ⚠
- p.Pro1224Gln Single submitter ⚠
- p.Pro1278Leu Single submitter ⚠
- p.Pro1318Ser Single submitter ⚠
- p.Pro264Ser Single submitter ⚠
- p.Pro412Leu Single submitter ⚠
- p.Pro709Ser Single submitter ⚠
- p.Pro771Leu Single submitter ⚠
- p.Pro839Ala Single submitter ⚠
- p.Ser1174Phe Single submitter ⚠
- p.Ser1357Asn Single submitter ⚠
- p.Ser1499Asn Single submitter ⚠
- p.Ser229Cys Single submitter ⚠
- p.Ser285Thr Single submitter ⚠
- p.Ser485Thr Single submitter ⚠
- p.Ser531Cys Single submitter ⚠
- p.Ser545Gly Single submitter ⚠
- p.Ser695Gly Single submitter ⚠
- p.Ser695Thr Single submitter ⚠
- p.Ser757Gly Single submitter ⚠
- p.Ser936Thr Single submitter ⚠
- p.Thr1076Ser Single submitter ⚠
- p.Thr113Ile Single submitter ⚠
- p.Thr1207Ile Single submitter ⚠
- p.Thr56Ala Single submitter ⚠
- p.Thr583Ala Single submitter ⚠
- p.Thr621Met Single submitter ⚠
- p.Thr730Arg Single submitter ⚠
- p.Thr819Ile Single submitter ⚠
- p.Trp1149Arg Single submitter ⚠
- p.Tyr1290His Single submitter ⚠
- p.Tyr359Cys Single submitter ⚠
- p.Tyr871Phe Single submitter ⚠
- p.Val1471Ile Single submitter ⚠
- p.Val342Ile Single submitter ⚠
- p.Val430Gly Single submitter ⚠
- p.Val547Ala Single submitter ⚠
- p.Val584Ile Single submitter ⚠
- p.Val814Ile Single submitter ⚠
- p.Val980Ile Single submitter ⚠
- p.Ala1400Thr No assertion criteria CLASP1-related disorder ⚠
- p.Gln1218Leu No assertion criteria CLASP1-related disorder ⚠