CSMD2 — 489 ClinVar variants

All ClinVar germline CSMD2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 284 flagged for review →

1 Benign · 29 Likely benign · 459 Uncertain significance

Full CSMD2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 284

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 264

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 264

Predictors split 20

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

All CSMD2 variants

Benign 1

p.Ser3015= Multiple submitters

Likely benign 29

p.Pro1506= Multiple submitters
c.6344-432G>A Single submitter
p.Arg2252Gln Single submitter
p.Arg2652Gln Single submitter
p.Arg3393Gln Single submitter
p.Arg571Gln Single submitter
p.Gln15= Single submitter
p.Gly2181= Single submitter
p.Gly31= Single submitter
p.Gly3125= Single submitter
p.Gly926= Single submitter
p.Ile1796Val Single submitter
p.Ile566Val Single submitter
p.Leu1150= Single submitter
p.Leu804= Single submitter
p.Lys1262= Single submitter
p.Lys1467= Single submitter
p.Met3490Val Single submitter
p.Phe258= Single submitter
p.Phe834= Single submitter
p.Ser1200= Single submitter
p.Ser1750= Single submitter
p.Ser2081Asn Single submitter
p.Ser3618Thr Single submitter
p.Thr2090= Single submitter
p.Thr3341= Single submitter
p.Val1867Met Single submitter
p.Val2218Ile Single submitter
p.Asp2314Glu No assertion criteria EBV-positive nodal T- and NK-cell lymphoma

Uncertain significance 459

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

c.6344-398G>T Single submitter
c.6344-422A>G Single submitter
c.6344-423T>C Single submitter
c.6344-429G>A Single submitter
c.6344-435G>A Single submitter
c.6344-437C>G Single submitter
c.6344-453A>G Single submitter
c.6344-463G>C Single submitter
c.6344-473A>G Single submitter
c.6344-510T>C Single submitter
p.Ala1115Thr Single submitter ⚠
p.Ala1201Thr Single submitter ⚠
p.Ala1330Val Single submitter ⚠
p.Ala1443Val Single submitter ⚠
p.Ala148Glu Single submitter ⚠
p.Ala1524Thr Single submitter ⚠
p.Ala1829Glu Single submitter ⚠
p.Ala1872Val Single submitter ⚠
p.Ala1913Asp Single submitter
p.Ala1985Thr Single submitter ⚠
p.Ala2255Thr Single submitter ⚠
p.Ala2274Ser Single submitter ⚠
p.Ala227Thr Single submitter
p.Ala2283Gly Single submitter ⚠
p.Ala2286Gly Single submitter ⚠
p.Ala2451Thr Single submitter ⚠
p.Ala2471Ser Single submitter ⚠
p.Ala2495Thr Single submitter ⚠
p.Ala2505Ser Single submitter ⚠
p.Ala2565Thr Single submitter ⚠
p.Ala2569Val Single submitter ⚠
p.Ala2938Thr Single submitter ⚠
p.Ala3192Thr Single submitter ⚠
p.Ala3192Val Single submitter
p.Ala3276Val Single submitter ⚠
p.Ala3378Val Single submitter
p.Ala3446Thr Single submitter ⚠
p.Ala3599Val Single submitter
p.Ala487Thr Single submitter ⚠
p.Ala598Ser Single submitter ⚠
p.Ala815Gly Single submitter ⚠
p.Ala819Ser Single submitter ⚠
p.Ala98Thr Single submitter ⚠
p.Ala98Val Single submitter ⚠
p.Arg1037Gln Single submitter ⚠
p.Arg1055His Single submitter
p.Arg1110His Single submitter
p.Arg1116His Single submitter ⚠
p.Arg1124Gln Single submitter
p.Arg1285Gln Single submitter ⚠
p.Arg1285Trp Single submitter
p.Arg1297His Single submitter
p.Arg1298Trp Single submitter
p.Arg1302Trp Single submitter ⚠
p.Arg133His Single submitter ⚠
p.Arg1367His Single submitter ⚠
p.Arg1436Gln Single submitter ⚠
p.Arg1595Gln Single submitter ⚠
p.Arg1609Gln Single submitter
p.Arg1609Trp Single submitter
p.Arg1723Gln Single submitter ⚠
p.Arg1723Gly Single submitter
p.Arg1769Gln Single submitter ⚠
p.Arg1782His Single submitter
p.Arg1996Gln Single submitter
p.Arg202Cys Single submitter
p.Arg202His Single submitter
p.Arg2065Gln Single submitter ⚠
p.Arg2065Pro Single submitter
p.Arg2167Trp Single submitter
p.Arg2219Cys Single submitter ⚠
p.Arg2246Trp Single submitter ⚠
p.Arg2445His Single submitter ⚠
p.Arg2454Trp Single submitter
p.Arg2460Cys Single submitter
p.Arg2580Cys Single submitter ⚠
p.Arg2667Cys Single submitter
p.Arg2667Leu Single submitter ⚠
p.Arg2758Gln Single submitter ⚠
p.Arg2770Cys Single submitter
p.Arg2990His Single submitter ⚠
p.Arg2990Pro Single submitter
p.Arg3002His Single submitter ⚠
p.Arg3002Ser Single submitter ⚠
p.Arg3012Gln Single submitter ⚠
p.Arg3142Gln Single submitter ⚠
p.Arg3233Thr Single submitter ⚠
p.Arg3251His Single submitter ⚠
p.Arg3251Ser Single submitter
p.Arg335Trp Single submitter
p.Arg337His Single submitter
p.Arg3403Trp Single submitter ⚠
p.Arg3535Ser Single submitter ⚠
p.Arg3580Thr Single submitter ⚠
p.Arg420Gln Single submitter ⚠
p.Arg441Gln Single submitter ⚠
p.Arg443His Single submitter ⚠
p.Arg495Lys Single submitter ⚠
p.Arg571Trp Single submitter ⚠
p.Arg705Cys Single submitter
p.Arg727Gln Single submitter
p.Arg742Trp Single submitter
p.Arg849Cys Single submitter
p.Asn1159Ser Single submitter ⚠
p.Asn1337Thr Single submitter ⚠
p.Asn1433Lys Single submitter
p.Asn1528Lys Single submitter ⚠
p.Asn1650Thr Single submitter ⚠
p.Asn2188Thr Single submitter ⚠
p.Asn2300Lys Single submitter
p.Asn2311Ser Single submitter ⚠
p.Asn2494Ser Single submitter ⚠
p.Asn3110Lys Single submitter ⚠
p.Asn3164Ser Single submitter
p.Asn3344Ser Single submitter ⚠
p.Asn3587Ser Single submitter ⚠
p.Asn3594Ser Single submitter ⚠
p.Asn661Ser Single submitter ⚠
p.Asn921Ser Single submitter ⚠
p.Asn950Ser Single submitter
p.Asp1358Gly Single submitter
p.Asp159Asn Single submitter ⚠
p.Asp1613Asn Single submitter ⚠
p.Asp1716Asn Single submitter
p.Asp2273Asn Single submitter ⚠
p.Asp2314Val Single submitter ⚠
p.Asp2390Asn Single submitter ⚠
p.Asp239His Single submitter ⚠
p.Asp267Asn Single submitter ⚠
p.Asp3227Asn Single submitter ⚠
p.Asp3607Asn Single submitter ⚠
p.Asp435Asn Single submitter ⚠
p.Asp637Asn Single submitter ⚠
p.Asp664Glu Single submitter
p.Asp835Asn Single submitter ⚠
p.Asp850Asn Single submitter
p.Gln1094Arg Single submitter ⚠
p.Gln109Arg Single submitter ⚠
p.Gln140Lys Single submitter ⚠
p.Gln1432Arg Single submitter ⚠
p.Gln2152Arg Single submitter ⚠
p.Gln2512Arg Single submitter
p.Gln2780Pro Single submitter
p.Gln3290His Single submitter
p.Gln3434Lys Single submitter ⚠
p.Gln348Lys Single submitter ⚠
p.Gln378Lys Single submitter ⚠
p.Gln765Arg Single submitter ⚠
p.Gln917Arg Single submitter ⚠
p.Glu1012Gly Single submitter
p.Glu1073Ala Single submitter ⚠
p.Glu1137Lys Single submitter ⚠
p.Glu1252Lys Single submitter
p.Glu1469Lys Single submitter ⚠
p.Glu1510Asp Single submitter ⚠
p.Glu1629Lys Single submitter ⚠
p.Glu1891Lys Single submitter
p.Glu1940Asp Single submitter
p.Glu212Ala Single submitter
p.Glu2302Lys Single submitter
p.Glu2408Lys Single submitter
p.Glu275Gly Single submitter ⚠
p.Glu297Lys Single submitter ⚠
p.Glu3090Lys Single submitter ⚠
p.Glu3404Ala Single submitter ⚠
p.Glu3542Lys Single submitter ⚠
p.Glu3621Asp Single submitter ⚠
p.Glu3621Gly Single submitter
p.Glu489Lys Single submitter ⚠
p.Glu730Gln Single submitter ⚠
p.Glu995Lys Single submitter
p.Gly1066Arg Single submitter ⚠
p.Gly1098Asp Single submitter ⚠
p.Gly1313Arg Single submitter
p.Gly1376Arg Single submitter
p.Gly1487Glu Single submitter
p.Gly1626Arg Single submitter ⚠
p.Gly1641Glu Single submitter ⚠
p.Gly1668Arg Single submitter ⚠
p.Gly1788Ser Single submitter
p.Gly1962Ser Single submitter
p.Gly2010Glu Single submitter
p.Gly2130Ala Single submitter ⚠
p.Gly2182Arg Single submitter
p.Gly2189Ser Single submitter
p.Gly2277Ala Single submitter ⚠
p.Gly2277Val Single submitter
p.Gly2417Glu Single submitter
p.Gly2479Ser Single submitter ⚠
p.Gly2496Ser Single submitter ⚠
p.Gly2645Arg Single submitter ⚠
p.Gly2675Arg Single submitter ⚠
p.Gly2675Glu Single submitter ⚠
p.Gly2690Asp Single submitter ⚠
p.Gly2946Ser Single submitter ⚠
p.Gly2980Ser Single submitter
p.Gly3027Ala Single submitter ⚠
p.Gly3027Ser Single submitter ⚠
p.Gly3072Arg Single submitter
p.Gly3105Val Single submitter ⚠
p.Gly310Arg Single submitter
p.Gly3215Arg Single submitter
p.Gly338Arg Single submitter ⚠
p.Gly3414Trp Single submitter ⚠
p.Gly3431Glu Single submitter
p.Gly3510Arg Single submitter ⚠
p.Gly3521Val Single submitter ⚠
p.Gly3525Glu Single submitter
p.Gly3528Ser Single submitter ⚠
p.Gly496Arg Single submitter
p.Gly496Ser Single submitter
p.Gly559Ser Single submitter ⚠
p.Gly580Ser Single submitter
p.Gly793Ser Single submitter
p.Gly794Asp Single submitter ⚠
p.Gly801Ser Single submitter ⚠
p.Gly827Ala Single submitter
p.Gly860Arg Single submitter
p.Gly864Arg Single submitter
p.Gly936Arg Single submitter ⚠
p.Gly979Glu Single submitter ⚠
p.His1353Tyr Single submitter
p.His1625Gln Single submitter ⚠
p.His1625Tyr Single submitter ⚠
p.His1721Pro Single submitter ⚠
p.His1986Leu Single submitter
p.His220Tyr Single submitter ⚠
p.His2352Tyr Single submitter ⚠
p.His2738Tyr Single submitter
p.His3474Arg Single submitter ⚠
p.His728Gln Single submitter ⚠
p.His795Arg Single submitter ⚠
p.Ile1020Val Single submitter ⚠
p.Ile1057Phe Single submitter ⚠
p.Ile1165Leu Single submitter ⚠
p.Ile1415Val Single submitter ⚠
p.Ile1930Val Single submitter ⚠
p.Ile2214Thr Single submitter ⚠
p.Ile2234Val Single submitter ⚠
p.Ile2282Thr Single submitter ⚠
p.Ile2434Val Single submitter ⚠
p.Ile2597Val Single submitter ⚠
p.Ile3268Leu Single submitter ⚠
p.Ile349Thr Single submitter ⚠
p.Ile3567Phe Single submitter
p.Ile388Val Single submitter ⚠
p.Ile697Val Single submitter ⚠
p.Ile770Val Single submitter ⚠
p.Ile900Val Single submitter ⚠
p.Leu1224Val Single submitter ⚠
p.Leu1304Val Single submitter ⚠
p.Leu1379Pro Single submitter ⚠
p.Leu1391Gln Single submitter ⚠
p.Leu1724Pro Single submitter
p.Leu1981Phe Single submitter
p.Leu2111Val Single submitter ⚠
p.Leu2247Pro Single submitter
p.Leu2516Gln Single submitter ⚠
p.Leu2618Met Single submitter ⚠
p.Leu2688Pro Single submitter ⚠
p.Leu630Val Single submitter ⚠
p.Leu647Phe Single submitter
p.Leu685Val Single submitter ⚠
p.Leu749Met Single submitter
p.Leu878Phe Single submitter ⚠
p.Leu988Phe Single submitter
p.Lys1000Arg Single submitter
p.Lys1174Arg Single submitter ⚠
p.Lys1237Glu Single submitter ⚠
p.Lys1380Arg Single submitter ⚠
p.Lys2256Arg Single submitter ⚠
p.Lys2257Glu Single submitter ⚠
p.Lys2404Thr Single submitter ⚠
p.Lys2947Arg Single submitter ⚠
p.Lys3304Asn Single submitter
p.Lys741Arg Single submitter ⚠
p.Met1990Val Single submitter
p.Met2015Thr Single submitter ⚠
p.Met2032Arg Single submitter ⚠
p.Met2074Ile Single submitter ⚠
p.Met2957Ile Single submitter ⚠
p.Met3155Lys Single submitter ⚠
p.Met444Lys Single submitter
p.Phe1239Leu Single submitter ⚠
p.Phe1357Leu Single submitter
p.Phe1417Leu Single submitter
p.Phe1762Tyr Single submitter
p.Phe231Leu Single submitter ⚠
p.Phe2608Ile Single submitter ⚠
p.Phe295Leu Single submitter
p.Phe3527Ser Single submitter
p.Phe3563Ile Single submitter
p.Phe399Leu Single submitter ⚠
p.Phe923Val Single submitter ⚠
p.Pro1078Arg Single submitter
p.Pro126Ser Single submitter ⚠
p.Pro1372Thr Single submitter
p.Pro1478Leu Single submitter
p.Pro1484Ser Single submitter ⚠
p.Pro1594Leu Single submitter