MAP2 — 252 ClinVar variants

All ClinVar germline MAP2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 202 flagged for review →

17 Benign · 3 Benign/Likely benign · 23 Likely benign · 209 Uncertain significance

Full MAP2 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 166

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 166

Predictors split 36

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

All MAP2 variants

Benign 17

p.Asp679= Multiple submitters
p.Glu1129= Multiple submitters
p.Glu179Gly Multiple submitters
p.Glu841= Multiple submitters
p.His976Leu Multiple submitters
p.Pro760= Multiple submitters
c.4522+2_4522+3insA Single submitter
p.Ala782Val Single submitter
p.Arg423Lys Single submitter
p.Asp1529= Single submitter
p.Asp176Asn Single submitter
p.Asp7= Single submitter
p.Gly1689= Single submitter
p.His162= Single submitter
p.Thr216= Single submitter
p.Val1022= Single submitter
p.Val407Phe Single submitter

Benign/Likely benign 3

p.Ala414Ser Multiple submitters
p.Gln1760= Multiple submitters
p.Glu55Lys Multiple submitters

Likely benign 23

p.Glu469Lys Multiple submitters
p.Ala1166= Single submitter
p.Arg1538= Single submitter
p.Arg1612= Single submitter
p.Gln1036= Single submitter
p.Glu373Lys Single submitter
p.Glu39= Single submitter
p.Glu8= Single submitter
p.Gly35= Single submitter
p.Gly719Asp Single submitter ⚠
p.Ile1062Val Single submitter
p.Ile368Val Single submitter
p.Leu223Pro Single submitter
p.Leu819= Single submitter
p.Lys1344Thr Single submitter
p.Phe426Ser Single submitter
p.Pro18= Single submitter
p.Ser821= Single submitter
p.Thr1068= Single submitter
p.Thr1154= Single submitter
p.Thr271Met Single submitter
p.Val1445Ile Single submitter
p.Val761Ile Single submitter

Uncertain significance 209

p.Ala1074Thr Multiple submitters ⚠
p.Ala752Ser Multiple submitters ⚠
p.Arg1715His Multiple submitters ⚠
p.Val1359Ala Multiple submitters ⚠
c.4388-1G>A Single submitter
p.Ala1015Gly Single submitter ⚠
p.Ala1074Pro Single submitter ⚠
p.Ala1147Val Single submitter ⚠
p.Ala11Thr Single submitter ⚠
p.Ala122Pro Single submitter ⚠
p.Ala1336Thr Single submitter ⚠
p.Ala1341Val Single submitter ⚠
p.Ala1413Val Single submitter ⚠
p.Ala142Val Single submitter ⚠
p.Ala1736Thr Single submitter ⚠
p.Ala1823Thr Single submitter ⚠
p.Ala552Gly Single submitter ⚠
p.Ala632Val Single submitter ⚠
p.Ala782Thr Single submitter ⚠
p.Ala792fs Single submitter
p.Ala922Thr Single submitter ⚠
p.Arg1251Cys Single submitter ⚠
p.Arg1251His Single submitter ⚠
p.Arg1356Gly Single submitter ⚠
p.Arg1504Gln Single submitter ⚠
p.Arg1538Cys Single submitter ⚠
p.Arg1551Gln Single submitter ⚠
p.Arg1551Trp Single submitter ⚠
p.Arg1552Pro Single submitter ⚠
p.Arg1574Gly Single submitter ⚠
p.Arg1575Gln Single submitter ⚠
p.Arg1792Gln Single submitter ⚠
p.Arg43Gln Single submitter ⚠
p.Arg5Gln Single submitter ⚠
p.Arg5Trp Single submitter ⚠
p.Arg658Gly Single submitter ⚠
p.Arg906Gly Single submitter ⚠
p.Asn1664Lys Single submitter ⚠
p.Asn46Ser Single submitter ⚠
p.Asn73Ser Single submitter ⚠
p.Asn873Ser Single submitter ⚠
p.Asn957Ser Single submitter ⚠
p.Asp1063Glu Single submitter ⚠
p.Asp1063Gly Single submitter ⚠
p.Asp1089Glu Single submitter ⚠
p.Asp1209Gly Single submitter ⚠
p.Asp1253Glu Single submitter ⚠
p.Asp1290Asn Single submitter ⚠
p.Asp1327His Single submitter ⚠
p.Asp1370Glu Single submitter ⚠
p.Asp364Glu Single submitter ⚠
p.Asp467Glu Single submitter ⚠
p.Asp492Gly Single submitter ⚠
p.Asp730Asn Single submitter ⚠
p.Asp743fs Single submitter MAP2-associated Neurodevelopmental Disorder
p.Asp861Gly Single submitter ⚠
p.Asp866Val Single submitter ⚠
p.Asp927Tyr Single submitter ⚠
p.Asp961Asn Single submitter ⚠
p.Gln1036Glu Single submitter ⚠
p.Gln1242Lys Single submitter ⚠
p.Gln1393Lys Single submitter ⚠
p.Gln1686Lys Single submitter ⚠
p.Gln177Arg Single submitter ⚠
p.Gln534Arg Single submitter ⚠
p.Glu1016Lys Single submitter ⚠
p.Glu1202Gln Single submitter ⚠
p.Glu1228Lys Single submitter ⚠
p.Glu1267Gln Single submitter ⚠
p.Glu1288Asp Single submitter ⚠
p.Glu1318Lys Single submitter ⚠
p.Glu1469Gln Single submitter ⚠
p.Glu439Ala Single submitter ⚠
p.Glu523Lys Single submitter ⚠
p.Glu657Lys Single submitter ⚠
p.Glu898Lys Single submitter ⚠
p.Gly1018Ser Single submitter ⚠
p.Gly1199Glu Single submitter ⚠
p.Gly1243Arg Single submitter ⚠
p.Gly1279Arg Single submitter ⚠
p.Gly1434Arg Single submitter ⚠
p.Gly1678Arg Single submitter ⚠
p.Gly56Arg Single submitter ⚠
p.Gly56Cys Single submitter ⚠
p.Gly719Ser Single submitter ⚠
p.Gly799Val Single submitter ⚠
p.Gly894Asp Single submitter ⚠
p.His1098Arg Single submitter ⚠
p.His1627Arg Single submitter ⚠
p.His1747Arg Single submitter
p.His1767Arg Single submitter ⚠
p.His722Arg Single submitter ⚠
p.Ile1006Met Single submitter ⚠
p.Ile1062Thr Single submitter ⚠
p.Ile1225Met Single submitter ⚠
p.Ile1239Arg Single submitter ⚠
p.Ile1407Thr Single submitter ⚠
p.Ile1569Thr Single submitter ⚠
p.Ile1646Val Single submitter ⚠
p.Ile1647Leu Single submitter ⚠
p.Ile1683fs Single submitter
p.Ile250Thr Single submitter ⚠
p.Ile284Thr Single submitter ⚠
p.Ile333Val Single submitter ⚠
p.Ile470Arg Single submitter ⚠
p.Ile533Val Single submitter ⚠
p.Ile731Val Single submitter ⚠
p.Leu1060Ile Single submitter ⚠
p.Leu1140Pro Single submitter ⚠
p.Leu1255Pro Single submitter ⚠
p.Leu1260Met Single submitter ⚠
p.Leu153Ser Single submitter ⚠
p.Leu1762Val Single submitter ⚠
p.Leu245Arg Single submitter ⚠
p.Leu444Phe Single submitter ⚠
p.Leu517Pro Single submitter ⚠
p.Leu689Val Single submitter ⚠
p.Lys1002Arg Single submitter ⚠
p.Lys1201Glu Single submitter ⚠
p.Lys1427Asn Single submitter Rett syndrome ⚠
p.Lys1587Arg Single submitter ⚠
p.Lys1633Gln Single submitter ⚠
p.Lys363Arg Single submitter ⚠
p.Lys392Arg Single submitter ⚠
p.Lys412Asn Single submitter ⚠
p.Lys443Arg Single submitter ⚠
p.Lys453Glu Single submitter ⚠
p.Lys903Thr Single submitter ⚠
p.Lys954Glu Single submitter ⚠
p.Met1142Val Single submitter ⚠
p.Met1194Lys Single submitter ⚠
p.Met1194Thr Single submitter ⚠
p.Met1400Val Single submitter ⚠
p.Met292Arg Single submitter ⚠
p.Met379Ile Single submitter ⚠
p.Met739Val Single submitter ⚠
p.Phe1091Tyr Single submitter ⚠
p.Phe1311Cys Single submitter ⚠
p.Phe1331Ile Single submitter ⚠
p.Phe950Ser Single submitter ⚠
p.Pro1007Thr Single submitter ⚠
p.Pro1023Ala Single submitter ⚠
p.Pro1177Leu Single submitter ⚠
p.Pro1208Gln Single submitter ⚠
p.Pro1274Gln Single submitter ⚠
p.Pro1348Leu Single submitter ⚠
p.Pro137Ser Single submitter ⚠
p.Pro139Ala Single submitter ⚠
p.Pro1620Arg Single submitter ⚠
p.Pro18Leu Single submitter ⚠
p.Pro253Leu Single submitter ⚠
p.Pro316Leu Single submitter ⚠
p.Pro342Arg Single submitter ⚠
p.Pro751Ser Single submitter ⚠
p.Pro757Leu Single submitter ⚠
p.Pro849Arg Single submitter ⚠
p.Ser1020Gly Single submitter ⚠
p.Ser1106Asn Single submitter ⚠
p.Ser1324Pro Single submitter ⚠
p.Ser1398Asn Single submitter ⚠
p.Ser1439Ala Single submitter ⚠
p.Ser1451Gly Single submitter ⚠
p.Ser1567Asn Single submitter ⚠
p.Ser311Pro Single submitter ⚠
p.Ser352Tyr Single submitter ⚠
p.Ser502Ile Single submitter ⚠
p.Ser531Gly Single submitter ⚠
p.Ser555Leu Single submitter ⚠
p.Ser654Pro Single submitter ⚠
p.Ser654Tyr Single submitter ⚠
p.Ser675Arg Single submitter ⚠
p.Ser788fs Single submitter
p.Ser821Ala Single submitter ⚠
p.Ser862Gly Single submitter ⚠
p.Ser886Asn Single submitter ⚠
p.Ser930Gly Single submitter ⚠
p.Ser947Thr Single submitter ⚠
p.Ser967Gly Single submitter ⚠
p.Thr1154Ala Single submitter ⚠
p.Thr1154Ile Single submitter ⚠
p.Thr1213Met Single submitter ⚠
p.Thr1224Met Single submitter ⚠
p.Thr1474fs Single submitter
p.Thr1594Ala Single submitter ⚠
p.Thr1594Pro Single submitter ⚠
p.Thr1619Ile Single submitter ⚠
p.Thr1631Ile Single submitter ⚠
p.Thr204Asn Single submitter ⚠
p.Thr271Ala Single submitter ⚠
p.Thr323Ser Single submitter ⚠
p.Thr425Ser Single submitter ⚠
p.Thr448fs Single submitter
p.Thr522Ser Single submitter ⚠
p.Thr989Ala Single submitter ⚠
p.Tyr207Phe Single submitter ⚠
p.Tyr667Cys Single submitter ⚠
p.Tyr996Cys Single submitter ⚠
p.Val1028Ile Single submitter ⚠
p.Val1309Met Single submitter ⚠
p.Val1445Leu Single submitter ⚠
p.Val1453Ala Single submitter ⚠
p.Val1531Ile Single submitter ⚠
p.Val1638Met Single submitter ⚠
p.Val247Ile Single submitter ⚠
p.Val501Ile Single submitter ⚠
p.Val856Asp Single submitter ⚠
p.Val877Ile Single submitter ⚠
p.Val925Ile Single submitter ⚠
p.Val994Glu Single submitter ⚠