CAMSAP2 — 152 ClinVar variants

All ClinVar germline CAMSAP2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 148 flagged for review →

1 Benign · 3 Likely benign · 148 Uncertain significance

Full CAMSAP2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 148

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 91

ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.

Predictors split 57

The independent predictors disagree with each other — read with care.

All CAMSAP2 variants

Benign 1

p.Pro1028Arg Multiple submitters

Likely benign 3

p.His463Arg Single submitter
p.Pro328= Single submitter
p.Thr734Ala Single submitter

Uncertain significance 148

p.Ser748Cys Multiple submitters ⚠
p.Ala1331Val Single submitter ⚠
p.Ala1450Gly Single submitter ⚠
p.Ala146Thr Single submitter ⚠
p.Ala356Val Single submitter ⚠
p.Ala374Ser Single submitter ⚠
p.Ala37Ser Single submitter ⚠
p.Ala660Val Single submitter ⚠
p.Ala93Val Single submitter ⚠
p.Arg1053Cys Single submitter ⚠
p.Arg1185Gln Single submitter ⚠
p.Arg11Lys Single submitter ⚠
p.Arg1228Trp Single submitter ⚠
p.Arg1244His Single submitter ⚠
p.Arg124Gln Single submitter ⚠
p.Arg1311His Single submitter ⚠
p.Arg1392Trp Single submitter ⚠
p.Arg217His Single submitter ⚠
p.Arg334His Single submitter ⚠
p.Arg389Cys Single submitter ⚠
p.Arg402Lys Single submitter ⚠
p.Arg402Ser Single submitter ⚠
p.Arg446Gln Single submitter ⚠
p.Arg450Cys Single submitter ⚠
p.Arg450His Single submitter ⚠
p.Arg653Gln Single submitter ⚠
p.Arg762Cys Single submitter ⚠
p.Arg83Cys Single submitter ⚠
p.Arg83His Single submitter ⚠
p.Arg954His Single submitter ⚠
p.Asn1368His Single submitter ⚠
p.Asn1412Ser Single submitter ⚠
p.Asn35Ser Single submitter ⚠
p.Asn454Thr Single submitter ⚠
p.Asn471Thr Single submitter ⚠
p.Asn514Ser Single submitter ⚠
p.Asn873Ser Single submitter ⚠
p.Asp1025Ala Single submitter ⚠
p.Asp1127Asn Single submitter ⚠
p.Asp1320Asn Single submitter ⚠
p.Asp141Asn Single submitter ⚠
p.Asp240Asn Single submitter ⚠
p.Asp257Asn Single submitter ⚠
p.Cys1396Tyr Single submitter ⚠
p.Cys160Phe Single submitter ⚠
p.Gln1029Lys Single submitter ⚠
p.Gln914Arg Single submitter ⚠
p.Gln915Leu Single submitter ⚠
p.Gln927His Single submitter ⚠
p.Glu1136Lys Single submitter ⚠
p.Glu1207Gln Single submitter ⚠
p.Glu1318Gly Single submitter ⚠
p.Glu1369Lys Single submitter ⚠
p.Glu268Ala Single submitter ⚠
p.Glu532Asp Single submitter ⚠
p.Glu621Lys Single submitter ⚠
p.Glu79Gln Single submitter ⚠
p.Gly1305Ala Single submitter ⚠
p.Gly1317Arg Single submitter ⚠
p.Gly1370Val Single submitter ⚠
p.Gly212Ala Single submitter ⚠
p.Gly213Val Single submitter ⚠
p.Gly414Glu Single submitter ⚠
p.Gly45Glu Single submitter ⚠
p.Gly597Asp Single submitter ⚠
p.His136Tyr Single submitter ⚠
p.His24Tyr Single submitter ⚠
p.His425Arg Single submitter ⚠
p.His723Tyr Single submitter ⚠
p.His892Arg Single submitter ⚠
p.Ile104Met Single submitter ⚠
p.Ile1062Met Single submitter ⚠
p.Ile448Val Single submitter ⚠
p.Ile515Asn Single submitter ⚠
p.Ile837Arg Single submitter premature menopause ⚠
p.Leu1044Phe Single submitter ⚠
p.Leu1117Phe Single submitter ⚠
p.Leu1233Val Single submitter ⚠
p.Leu261Ser Single submitter ⚠
p.Leu36Met Single submitter ⚠
p.Leu530Ile Single submitter ⚠
p.Leu530Pro Single submitter ⚠
p.Leu647Ile Single submitter ⚠
p.Lys1041Met Single submitter ⚠
p.Lys128Arg Single submitter ⚠
p.Lys518Arg Single submitter ⚠
p.Lys645Glu Single submitter ⚠
p.Lys793Arg Single submitter ⚠
p.Met1166Val Single submitter ⚠
p.Met1193Val Single submitter ⚠
p.Met1237Thr Single submitter ⚠
p.Met347Lys Single submitter ⚠
p.Met575Thr Single submitter ⚠
p.Met771Val Single submitter ⚠
p.Met907Ile Single submitter ⚠
p.Phe367Tyr Single submitter ⚠
p.Phe646Leu Single submitter ⚠
p.Pro1009Ser Single submitter ⚠
p.Pro1028Ser Single submitter ⚠
p.Pro1076Arg Single submitter ⚠
p.Pro1097His Single submitter ⚠
p.Pro1269Gln Single submitter ⚠
p.Pro1269Ser Single submitter ⚠
p.Pro1274Ser Single submitter ⚠
p.Pro21Thr Single submitter ⚠
p.Pro722Ser Single submitter ⚠
p.Pro844His Single submitter ⚠
p.Pro844Thr Single submitter ⚠
p.Pro953Leu Single submitter ⚠
p.Pro958Leu Single submitter ⚠
p.Pro958Ser Single submitter ⚠
p.Pro96Thr Single submitter ⚠
p.Pro995Leu Single submitter ⚠
p.Ser1282Leu Single submitter ⚠
p.Ser644Pro Single submitter ⚠
p.Ser662Asn Single submitter ⚠
p.Ser682Cys Single submitter ⚠
p.Ser840Ile Single submitter ⚠
p.Ser851Pro Single submitter ⚠
p.Ser868Pro Single submitter ⚠
p.Ser91Asn Single submitter ⚠
p.Ser959Phe Single submitter ⚠
p.Ser967Thr Single submitter ⚠
p.Thr115Ala Single submitter ⚠
p.Thr1239Ala Single submitter ⚠
p.Thr1285Ala Single submitter ⚠
p.Thr1469Lys Single submitter ⚠
p.Thr1476Ala Single submitter ⚠
p.Thr223Ala Single submitter ⚠
p.Thr242Ala Single submitter ⚠
p.Thr558Pro Single submitter ⚠
p.Thr595Met Single submitter ⚠
p.Thr654Ile Single submitter ⚠
p.Thr654Ser Single submitter ⚠
p.Trp1321Cys Single submitter ⚠
p.Trp727Ser Single submitter ⚠
p.Tyr1133His Single submitter ⚠
p.Tyr1225Cys Single submitter ⚠
p.Tyr175Cys Single submitter ⚠
p.Tyr632Asp Single submitter ⚠
p.Tyr880Cys Single submitter ⚠
p.Val103Ile Single submitter ⚠
p.Val1101Ile Single submitter ⚠
p.Val1115Ile Single submitter ⚠
p.Val1128Gly Single submitter ⚠
p.Val1303Ile Single submitter ⚠
p.Val40Met Single submitter ⚠
p.Met623Thr No assertion criteria premature menopause ⚠