CSPG4 — 420 ClinVar variants

All ClinVar germline CSPG4 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 382 flagged for review →

2 Conflicting · 4 Benign · 43 Likely benign · 371 Uncertain significance

Full CSPG4 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 382

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.

CSPG4 p.Thr2261Asn Conflicting Single submitter

Predictors lean, ClinVar uncertain 174

ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification. · showing the 150 best-reviewed of 174

Predictors split 207

The independent predictors disagree with each other — read with care. · showing the 150 best-reviewed of 207

All CSPG4 variants

Conflicting classifications of pathogenicity 2

p.Arg788Gln Single submitter ⚠
p.Thr2261Asn Single submitter ⚠

Benign 4

p.Thr305Met Multiple submitters ⚠
p.Ala67Thr Single submitter ⚠
p.Arg702= Single submitter
p.Leu38= Single submitter

Likely benign 43

p.Arg1557His Multiple submitters
p.Ser1882= Multiple submitters
c.252+10G>A Single submitter
p.Ala1356Thr Single submitter
p.Ala1526= Single submitter
p.Ala1611Thr Single submitter
p.Ala1634Thr Single submitter
p.Ala2208Thr Single submitter
p.Ala652= Single submitter
p.Ala730= Single submitter
p.Arg1034Gln Single submitter ⚠
p.Arg1243Gln Single submitter
p.Arg1520Gln Single submitter
p.Arg1621His Single submitter ⚠
p.Arg1624Gln Single submitter
p.Arg1967Gln Single submitter
p.Arg1980His Single submitter
p.Arg246Trp Single submitter ⚠
p.Arg631His Single submitter
p.Arg667His Single submitter
p.Arg734Trp Single submitter
p.Asp187= Single submitter
p.Asp976Asn Single submitter
p.Gln2Arg Single submitter
p.Gly1411Arg Single submitter
p.Gly1542Arg Single submitter ⚠
p.Gly2105Arg Single submitter
p.His1167= Single submitter
p.His1458Gln Single submitter
p.His189Pro Single submitter
p.His751Arg Single submitter
p.Leu1761= Single submitter
p.Met679Val Single submitter
p.Pro575= Single submitter
p.Pro819Thr Single submitter
p.Ser1049= Single submitter
p.Ser1394Gly Single submitter ⚠
p.Ser598Pro Single submitter
p.Thr153= Single submitter
p.Thr1575Met Single submitter ⚠
p.Val1197Ile Single submitter
p.Val1725Met Single submitter
p.Val901Gly Single submitter ⚠

Uncertain significance 371

Showing the top 300 by review status; the full set is in the sitemap.

p.Ala1116Val Single submitter ⚠
p.Ala1186Val Single submitter ⚠
p.Ala1212Val Single submitter ⚠
p.Ala121Thr Single submitter ⚠
p.Ala131Pro Single submitter ⚠
p.Ala1362Gly Single submitter ⚠
p.Ala1362Val Single submitter ⚠
p.Ala1376Gly Single submitter ⚠
p.Ala138Val Single submitter ⚠
p.Ala1461Asp Single submitter ⚠
p.Ala1494Thr Single submitter ⚠
p.Ala1494Val Single submitter ⚠
p.Ala1526Ser Single submitter ⚠
p.Ala1526Thr Single submitter ⚠
p.Ala1611Pro Single submitter ⚠
p.Ala1687Val Single submitter ⚠
p.Ala1688Thr Single submitter ⚠
p.Ala172Val Single submitter ⚠
p.Ala1735Thr Single submitter ⚠
p.Ala1781Val Single submitter ⚠
p.Ala1849Val Single submitter ⚠
p.Ala1875Glu Single submitter ⚠
p.Ala193Thr Single submitter ⚠
p.Ala2030Gly Single submitter ⚠
p.Ala237Val Single submitter ⚠
p.Ala280Val Single submitter ⚠
p.Ala293Val Single submitter ⚠
p.Ala29Val Single submitter ⚠
p.Ala378Thr Single submitter ⚠
p.Ala391Val Single submitter ⚠
p.Ala504Ser Single submitter ⚠
p.Ala526Ser Single submitter ⚠
p.Ala684Thr Single submitter ⚠
p.Ala692Ser Single submitter ⚠
p.Ala854Gly Single submitter ⚠
p.Ala899Val Single submitter ⚠
p.Arg1004Gln Single submitter ⚠
p.Arg1004Trp Single submitter ⚠
p.Arg1025Gln Single submitter ⚠
p.Arg1060His Single submitter ⚠
p.Arg1076Trp Single submitter ⚠
p.Arg1080Cys Single submitter ⚠
p.Arg1100Cys Single submitter ⚠
p.Arg1173Leu Single submitter ⚠
p.Arg1179Gln Single submitter ⚠
p.Arg1179Trp Single submitter ⚠
p.Arg1292Cys Single submitter ⚠
p.Arg1324Gly Single submitter ⚠
p.Arg1324His Single submitter ⚠
p.Arg1423Lys Single submitter ⚠
p.Arg1532Cys Single submitter ⚠
p.Arg1559Cys Single submitter ⚠
p.Arg1559His Single submitter ⚠
p.Arg1621Cys Single submitter ⚠
p.Arg1624Trp Single submitter ⚠
p.Arg167Ser Single submitter ⚠
p.Arg1684Gln Single submitter ⚠
p.Arg1684Trp Single submitter ⚠
p.Arg1720Gln Single submitter ⚠
p.Arg1757Gln Single submitter ⚠
p.Arg182Gln Single submitter ⚠
p.Arg182Trp Single submitter ⚠
p.Arg1845Gln Single submitter ⚠
p.Arg1853Gly Single submitter ⚠
p.Arg1893Cys Single submitter ⚠
p.Arg1903Trp Single submitter ⚠
p.Arg1947Trp Single submitter ⚠
p.Arg1958Cys Single submitter ⚠
p.Arg1958His Single submitter ⚠
p.Arg1972Gln Single submitter ⚠
p.Arg1980Cys Single submitter ⚠
p.Arg2062His Single submitter ⚠
p.Arg2076His Single submitter ⚠
p.Arg2093Cys Single submitter ⚠
p.Arg2093His Single submitter ⚠
p.Arg2096Cys Single submitter ⚠
p.Arg2169Gln Single submitter ⚠
p.Arg2169Trp Single submitter ⚠
p.Arg2183Trp Single submitter ⚠
p.Arg2247Gln Single submitter ⚠
p.Arg2309Gln Single submitter ⚠
p.Arg2309Trp Single submitter ⚠
p.Arg235Trp Single submitter ⚠
p.Arg246Gln Single submitter ⚠
p.Arg261Trp Single submitter ⚠
p.Arg295Trp Single submitter ⚠
p.Arg310Gln Single submitter ⚠
p.Arg319Gln Single submitter ⚠
p.Arg333Pro Single submitter ⚠
p.Arg339Cys Single submitter ⚠
p.Arg339His Single submitter ⚠
p.Arg368Gln Single submitter ⚠
p.Arg491Gln Single submitter ⚠
p.Arg505Cys Single submitter ⚠
p.Arg505His Single submitter ⚠
p.Arg535Gln Single submitter ⚠
p.Arg605Cys Single submitter ⚠
p.Arg605His Single submitter ⚠
p.Arg606Gln Single submitter ⚠
p.Arg631Cys Single submitter ⚠
p.Arg660Gln Single submitter ⚠
p.Arg660Trp Single submitter ⚠
p.Arg672Gln Single submitter ⚠
p.Arg702His Single submitter ⚠
p.Arg82Cys Single submitter ⚠
p.Arg856Gln Single submitter ⚠
p.Arg864His Single submitter ⚠
p.Arg874His Single submitter ⚠
p.Arg876Cys Single submitter ⚠
p.Arg941Cys Single submitter ⚠
p.Arg941His Single submitter ⚠
p.Arg948Pro Single submitter ⚠
p.Arg969Gln Single submitter ⚠
p.Asn1470Ser Single submitter ⚠
p.Asn1732Ser Single submitter ⚠
p.Asn176Ser Single submitter ⚠
p.Asn2221Thr Single submitter ⚠
p.Asn2250Ser Single submitter ⚠
p.Asn2312Lys Single submitter ⚠
p.Asn275Ser Single submitter ⚠
p.Asn292Ser Single submitter ⚠
p.Asn375Ser Single submitter ⚠
p.Asn501Ile Single submitter ⚠
p.Asn501Ser Single submitter ⚠
p.Asn547Lys Single submitter ⚠
p.Asn550Ser Single submitter ⚠
p.Asn796Ile Single submitter ⚠
p.Asp1016Asn Single submitter ⚠
p.Asp1046Asn Single submitter ⚠
p.Asp1053Glu Single submitter ⚠
p.Asp106Val Single submitter ⚠
p.Asp1099Asn Single submitter ⚠
p.Asp1109Asn Single submitter ⚠
p.Asp1109Gly Single submitter ⚠
p.Asp1146Asn Single submitter ⚠
p.Asp1194His Single submitter ⚠
p.Asp1223Asn Single submitter ⚠
p.Asp1303Tyr Single submitter ⚠
p.Asp1410Asn Single submitter ⚠
p.Asp1614Glu Single submitter ⚠
p.Asp1898Asn Single submitter ⚠
p.Asp2006His Single submitter ⚠
p.Asp201Gly Single submitter ⚠
p.Asp281Asn Single submitter ⚠
p.Asp328His Single submitter ⚠
p.Asp509Asn Single submitter ⚠
p.Asp644Asn Single submitter ⚠
p.Asp843Gly Single submitter ⚠
p.Asp871Gly Single submitter ⚠
p.Gln1104His Single submitter ⚠
p.Gln1189His Single submitter ⚠
p.Gln1190Lys Single submitter ⚠
p.Gln1402Pro Single submitter ⚠
p.Gln1648Pro Single submitter ⚠
p.Gln1702Arg Single submitter ⚠
p.Gln1719Arg Single submitter ⚠
p.Gln1783Lys Single submitter ⚠
p.Gln54Arg Single submitter ⚠
p.Gln636Arg Single submitter ⚠
p.Gln713Lys Single submitter ⚠
p.Gln715Arg Single submitter ⚠
p.Gln715His Single submitter ⚠
p.Gln77His Single submitter ⚠
p.Glu1345Lys Single submitter ⚠
p.Glu1486Asp Single submitter ⚠
p.Glu1486Gln Single submitter ⚠
p.Glu1514Lys Single submitter ⚠
p.Glu1764Lys Single submitter ⚠
p.Glu1765Lys Single submitter ⚠
p.Glu2180Lys Single submitter ⚠
p.Glu2197Asp Single submitter ⚠
p.Glu2197Lys Single submitter ⚠
p.Glu2273Lys Single submitter ⚠
p.Glu2279Lys Single submitter ⚠
p.Glu441Asp Single submitter ⚠
p.Glu480Lys Single submitter ⚠
p.Glu482Lys Single submitter ⚠
p.Glu615Lys Single submitter ⚠
p.Glu620Gly Single submitter ⚠
p.Glu790Gln Single submitter ⚠
p.Glu824Lys Single submitter ⚠
p.Glu870Lys Single submitter ⚠
p.Glu978Lys Single submitter ⚠
p.Gly119Cys Single submitter ⚠
p.Gly1293Ala Single submitter ⚠
p.Gly1293Val Single submitter ⚠
p.Gly1341Val Single submitter ⚠
p.Gly1384Arg Single submitter ⚠
p.Gly1487Ala Single submitter ⚠
p.Gly149Ala Single submitter ⚠
p.Gly1525Glu Single submitter ⚠
p.Gly1542Glu Single submitter ⚠
p.Gly1555Arg Single submitter ⚠
p.Gly161Glu Single submitter ⚠
p.Gly1758Ser Single submitter ⚠
p.Gly1790Ser Single submitter ⚠
p.Gly1889Arg Single submitter ⚠
p.Gly1910Arg Single submitter ⚠
p.Gly2078Asp Single submitter ⚠
p.Gly2124Ala Single submitter ⚠
p.Gly2199Val Single submitter ⚠
p.Gly2267Arg Single submitter ⚠
p.Gly267Asp Single submitter ⚠
p.Gly325Arg Single submitter ⚠
p.Gly362Ala Single submitter ⚠
p.Gly442Arg Single submitter ⚠
p.Gly442Glu Single submitter ⚠
p.Gly442Trp Single submitter ⚠
p.Gly4Arg Single submitter ⚠
p.Gly537Ser Single submitter ⚠
p.Gly596Asp Single submitter ⚠
p.Gly610Glu Single submitter ⚠
p.Gly632Ser Single submitter ⚠
p.Gly705Ala Single submitter ⚠
p.Gly844Cys Single submitter ⚠
p.His1877Tyr Single submitter ⚠
p.His294Tyr Single submitter ⚠
p.His921Arg Single submitter ⚠
p.Ile434Val Single submitter ⚠
p.Ile769Met Single submitter ⚠
p.Ile893Val Single submitter ⚠
p.Leu1198Ile Single submitter ⚠
p.Leu1198Pro Single submitter ⚠
p.Leu1236Met Single submitter ⚠
p.Leu123Ser Single submitter ⚠
p.Leu123Trp Single submitter ⚠
p.Leu140Val Single submitter ⚠
p.Leu1581Phe Single submitter ⚠
p.Leu1733Ile Single submitter ⚠
p.Leu180Phe Single submitter ⚠
p.Leu181Phe Single submitter ⚠
p.Leu204Pro Single submitter ⚠
p.Leu2146Val Single submitter ⚠
p.Leu2238Val Single submitter ⚠
p.Leu367Arg Single submitter ⚠
p.Leu38Val Single submitter ⚠
p.Leu431Val Single submitter ⚠
p.Leu496Phe Single submitter ⚠
p.Leu53Pro Single submitter ⚠
p.Leu566Arg Single submitter ⚠
p.Leu654Pro Single submitter ⚠
p.Leu654Val Single submitter ⚠
p.Leu744Arg Single submitter ⚠
p.Leu811Arg Single submitter ⚠
p.Leu907Phe Single submitter ⚠
p.Lys1061Glu Single submitter ⚠
p.Lys1246Asn Single submitter ⚠
p.Met1447Thr Single submitter ⚠
p.Met1453Ile Single submitter ⚠
p.Met2201Ile Single submitter ⚠
p.Met2222Ile Single submitter ⚠
p.Met376Val Single submitter ⚠
p.Met459Thr Single submitter ⚠
p.Phe1051Leu Single submitter ⚠
p.Phe1093Leu Single submitter ⚠
p.Phe1276Ser Single submitter ⚠
p.Phe1365Leu Single submitter ⚠
p.Phe1571Val Single submitter ⚠
p.Phe1646Leu Single submitter ⚠
p.Phe1749Ser Single submitter ⚠
p.Phe2017Leu Single submitter ⚠
p.Phe256Cys Single submitter ⚠
p.Pro1138Thr Single submitter ⚠
p.Pro1183Arg Single submitter ⚠
p.Pro1282Leu Single submitter ⚠
p.Pro1355Ser Single submitter ⚠
p.Pro1388Ser Single submitter ⚠
p.Pro1740Thr Single submitter ⚠
p.Pro1833Leu Single submitter ⚠
p.Pro2098Leu Single submitter ⚠
p.Pro2135Ser Single submitter ⚠
p.Pro2164Ala Single submitter ⚠
p.Pro278Ser Single submitter ⚠
p.Pro419Leu Single submitter ⚠
p.Pro572Leu Single submitter ⚠
p.Pro60His Single submitter ⚠
p.Pro650Thr Single submitter ⚠
p.Pro748Leu Single submitter ⚠
p.Pro7Leu Single submitter ⚠
p.Pro816Leu Single submitter ⚠
p.Pro819Gln Single submitter ⚠
p.Pro829Ser Single submitter ⚠
p.Pro880Ser Single submitter ⚠
p.Pro890Thr Single submitter ⚠
p.Ser1301Gly Single submitter ⚠
p.Ser1307Asn Single submitter ⚠
p.Ser1602Asn Single submitter ⚠
p.Ser1901Leu Single submitter ⚠
p.Ser1926Arg Single submitter ⚠
p.Ser1998Leu Single submitter ⚠
p.Ser2172Asn Single submitter ⚠
p.Ser276Asn Single submitter ⚠
p.Ser31Pro Single submitter ⚠
p.Ser359Asn Single submitter ⚠
p.Ser435Arg Single submitter ⚠
p.Ser687Leu Single submitter ⚠
p.Ser698Asn Single submitter ⚠
p.Ser842Pro Single submitter ⚠
p.Thr102Met Single submitter ⚠
p.Thr1059Asn Single submitter ⚠