CEP170 — 211 ClinVar variants

All ClinVar germline CEP170 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 202 flagged for review →

2 Benign · 1 Benign/Likely benign · 6 Likely benign · 202 Uncertain significance

Full CEP170 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 202

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 150

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

Predictors split 52

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

All CEP170 variants

Benign 2

c.4319+9A>T Multiple submitters
p.Met1275Val Multiple submitters

Benign/Likely benign 1

p.Tyr1291= Multiple submitters

Likely benign 6

c.1716+137G>A Single submitter
p.Arg876Gln Single submitter
p.Gly1159= Single submitter
p.Ser1270= Single submitter
p.Ser450= Single submitter
p.Ser865Pro Single submitter

Uncertain significance 202

p.Val1524Met Multiple submitters ⚠
p.Ala1163Val Single submitter ⚠
p.Ala1310Thr Single submitter ⚠
p.Ala1392Gly Single submitter ⚠
p.Ala144Val Single submitter ⚠
p.Ala146Val Single submitter ⚠
p.Ala193Val Single submitter ⚠
p.Ala226Thr Single submitter ⚠
p.Ala549Ser Single submitter ⚠
p.Ala554Val Single submitter ⚠
p.Ala588Val Single submitter ⚠
p.Ala726Val Single submitter ⚠
p.Ala757Thr Single submitter ⚠
p.Arg1006Cys Single submitter ⚠
p.Arg1054Gln Single submitter ⚠
p.Arg1054Trp Single submitter ⚠
p.Arg1096Gln Single submitter ⚠
p.Arg1154Cys Single submitter ⚠
p.Arg1208Gln Single submitter ⚠
p.Arg1249Cys Single submitter ⚠
p.Arg1267Cys Single submitter ⚠
p.Arg1304Gly Single submitter ⚠
p.Arg1366Leu Single submitter ⚠
p.Arg1383Gln Single submitter ⚠
p.Arg1448Gln Single submitter ⚠
p.Arg1570Ser Single submitter ⚠
p.Arg15His Single submitter ⚠
p.Arg172Cys Single submitter ⚠
p.Arg306His Single submitter ⚠
p.Arg37Gly Single submitter ⚠
p.Arg393His Single submitter ⚠
p.Arg402Cys Single submitter ⚠
p.Arg402His Single submitter ⚠
p.Arg582Cys Single submitter ⚠
p.Arg626Gly Single submitter ⚠
p.Arg777Lys Single submitter ⚠
p.Arg909Cys Single submitter ⚠
p.Arg956Gln Single submitter ⚠
p.Asn1204Asp Single submitter ⚠
p.Asn1227Ser Single submitter ⚠
p.Asn1415Asp Single submitter ⚠
p.Asn1415Lys Single submitter ⚠
p.Asn341Ser Single submitter ⚠
p.Asn593Ser Single submitter ⚠
p.Asn614Lys Single submitter ⚠
p.Asp1409Asn Single submitter ⚠
p.Asp1409Gly Single submitter ⚠
p.Asp140Glu Single submitter ⚠
p.Asp1447Gly Single submitter ⚠
p.Asp304His Single submitter ⚠
p.Asp40Gly Single submitter ⚠
p.Asp521Gly Single submitter ⚠
p.Asp825Val Single submitter ⚠
p.Asp896Glu Single submitter ⚠
p.Asp965Gly Single submitter ⚠
p.Cys1049Phe Single submitter ⚠
p.Gln120His Single submitter ⚠
p.Gln151Arg Single submitter ⚠
p.Gln599Arg Single submitter ⚠
p.Gln688Glu Single submitter ⚠
p.Gln751Arg Single submitter ⚠
p.Gln758Arg Single submitter ⚠
p.Gln758Glu Single submitter ⚠
p.Gln783Lys Single submitter ⚠
p.Glu1062Gly Single submitter ⚠
p.Glu161Lys Single submitter ⚠
p.Glu228Gly Single submitter ⚠
p.Glu330Lys Single submitter ⚠
p.Glu505Asp Single submitter ⚠
p.Glu539Lys Single submitter ⚠
p.Glu613Asp Single submitter ⚠
p.Glu615Gly Single submitter ⚠
p.Glu681Gln Single submitter ⚠
p.Glu730Asp Single submitter ⚠
p.Glu752Gln Single submitter ⚠
p.Glu828Ala Single submitter ⚠
p.Glu828Lys Single submitter ⚠
p.Gly1109Ala Single submitter ⚠
p.Gly1382Ser Single submitter ⚠
p.Gly1507Val Single submitter ⚠
p.Gly376Asp Single submitter ⚠
p.Gly432Glu Single submitter ⚠
p.Gly432Val Single submitter ⚠
p.Gly629Asp Single submitter ⚠
p.Gly638Ala Single submitter ⚠
p.Gly638Glu Single submitter ⚠
p.Gly713Ala Single submitter ⚠
p.Gly823Glu Single submitter ⚠
p.Gly823Val Single submitter ⚠
p.His1052Arg Single submitter ⚠
p.His1052Asn Single submitter ⚠
p.His1052Leu Single submitter ⚠
p.His1283Gln Single submitter ⚠
p.His1373Arg Single submitter ⚠
p.His1528Tyr Single submitter ⚠
p.His271Gln Single submitter ⚠
p.His297Arg Single submitter ⚠
p.His307Arg Single submitter ⚠
p.His541Asn Single submitter ⚠
p.His570Tyr Single submitter ⚠
p.His721Arg Single submitter ⚠
p.Ile1039Val Single submitter ⚠
p.Ile1184Val Single submitter ⚠
p.Ile1206Val Single submitter ⚠
p.Ile1368Phe Single submitter ⚠
p.Ile1432Thr Single submitter ⚠
p.Ile1432Val Single submitter ⚠
p.Ile1476Val Single submitter ⚠
p.Ile272Val Single submitter ⚠
p.Ile453Thr Single submitter ⚠
p.Ile537Asn Single submitter ⚠
p.Ile669Thr Single submitter ⚠
p.Ile841Thr Single submitter ⚠
p.Leu1191Val Single submitter ⚠
p.Leu410Pro Single submitter ⚠
p.Leu456Val Single submitter ⚠
p.Leu720Pro Single submitter ⚠
p.Leu722Ser Single submitter ⚠
p.Leu833Phe Single submitter ⚠
p.Leu892Phe Single submitter ⚠
p.Leu8Phe Single submitter ⚠
p.Leu962His Single submitter ⚠
p.Lys1067Arg Single submitter ⚠
p.Lys124Asn Single submitter ⚠
p.Lys137Glu Single submitter ⚠
p.Lys1426Glu Single submitter ⚠
p.Lys1518Asn Single submitter ⚠
p.Lys1520Arg Single submitter ⚠
p.Lys542Glu Single submitter ⚠
p.Lys798Thr Single submitter ⚠
p.Lys858Arg Single submitter ⚠
p.Met1040Ile Single submitter ⚠
p.Met1040Leu Single submitter ⚠
p.Met170Val Single submitter ⚠
p.Met326Thr Single submitter ⚠
p.Met327Ile Single submitter ⚠
p.Met604Val Single submitter ⚠
p.Met701Ile Single submitter ⚠
p.Met701Thr Single submitter ⚠
p.Phe1245Leu Single submitter ⚠
p.Phe1359Ser Single submitter ⚠
p.Phe1568Leu Single submitter ⚠
p.Phe959Ile Single submitter ⚠
p.Pro1080Leu Single submitter ⚠
p.Pro1389Arg Single submitter ⚠
p.Pro1395His Single submitter ⚠
p.Pro1517Leu Single submitter ⚠
p.Pro1530Ala Single submitter ⚠
p.Pro289Thr Single submitter ⚠
p.Pro314Thr Single submitter ⚠
p.Pro609Arg Single submitter ⚠
p.Pro611Ser Single submitter ⚠
p.Pro646Leu Single submitter ⚠
p.Pro649Leu Single submitter ⚠
p.Pro787Arg Single submitter ⚠
p.Pro788Ser Single submitter ⚠
p.Pro844Leu Single submitter ⚠
p.Pro846Ser Single submitter ⚠
p.Ser1012Ile Single submitter ⚠
p.Ser11Asn Single submitter ⚠
p.Ser1212Cys Single submitter ⚠
p.Ser1228Ala Single submitter ⚠
p.Ser1270Asn Single submitter ⚠
p.Ser1270Ile Single submitter ⚠
p.Ser1273Thr Single submitter ⚠
p.Ser1278Asn Single submitter ⚠
p.Ser131Phe Single submitter ⚠
p.Ser135Asn Single submitter ⚠
p.Ser1384Pro Single submitter ⚠
p.Ser1461Asn Single submitter ⚠
p.Ser1529Arg Single submitter ⚠
p.Ser168Cys Single submitter ⚠
p.Ser181Ala Single submitter ⚠
p.Ser269Gly Single submitter ⚠
p.Ser309Pro Single submitter ⚠
p.Ser391Arg Single submitter ⚠
p.Ser576Cys Single submitter ⚠
p.Ser732Arg Single submitter ⚠
p.Ser807Arg Single submitter ⚠
p.Ser933Cys Single submitter ⚠
p.Thr1074Met Single submitter ⚠
p.Thr1078Ile Single submitter ⚠
p.Thr1170Ala Single submitter ⚠
p.Thr1180Ala Single submitter ⚠
p.Thr1266Ile Single submitter ⚠
p.Thr1535Ala Single submitter ⚠
p.Thr245Ile Single submitter ⚠
p.Thr264Ile Single submitter ⚠
p.Thr267Met Single submitter ⚠
p.Thr395Ala Single submitter ⚠
p.Thr425Ser Single submitter ⚠
p.Thr575Ala Single submitter ⚠
p.Thr718Ser Single submitter ⚠
p.Trp587Cys Single submitter ⚠
p.Val1009Phe Single submitter ⚠
p.Val1081Ala Single submitter ⚠
p.Val1192Ala Single submitter ⚠
p.Val1421Ile Single submitter ⚠
p.Val188Met Single submitter ⚠
p.Val230Ile Single submitter ⚠
p.Val292Ile Single submitter ⚠
p.Val686Leu Single submitter ⚠