PTPRB — 279 ClinVar variants

All ClinVar germline PTPRB variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more.

1 Conflicting · 4 Benign · 1 Benign/Likely benign · 17 Likely benign · 256 Uncertain significance

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

All PTPRB variants

Conflicting classifications of pathogenicity 1

p.Lys1293Glu Single submitter

Benign 4

c.3370+4A>G Multiple submitters
p.Ala1520= Multiple submitters
p.Leu1142= Multiple submitters
p.Thr1699= Multiple submitters

Benign/Likely benign 1

p.Pro1816= Multiple submitters

Likely benign 17

p.Ala196Thr Single submitter
p.Arg1257His Single submitter
p.Arg449Gln Single submitter
p.Arg86His Single submitter
p.Asn1549Ser Single submitter
p.Gly1342Arg Single submitter
p.Gly374Glu Single submitter
p.Gly464Ser Single submitter
p.Ile1220Thr Single submitter
p.Ile261Leu Single submitter
p.Leu141Pro Single submitter
p.Leu266Trp Single submitter
p.Thr1690Ile Single submitter
p.Val1550Ile Single submitter
p.Val688= Single submitter
p.Val800Ile Single submitter
c.2579-31C>A No assertion criteria PTPRB-related disorder

Uncertain significance 256

p.Ala1027Ser Single submitter
p.Ala1088Thr Single submitter
p.Ala1117Val Single submitter
p.Ala1305Val Single submitter
p.Ala1853Gly Single submitter
p.Ala2036Val Single submitter
p.Ala2115Val Single submitter
p.Ala250Val Single submitter
p.Ala305Gly Single submitter
p.Ala433Val Single submitter
p.Ala885Val Single submitter
p.Arg1012Gln Single submitter
p.Arg1046His Single submitter
p.Arg1092Gln Single submitter
p.Arg1210Gln Single submitter
p.Arg1210Trp Single submitter
p.Arg1257Cys Single submitter
p.Arg1322Cys Single submitter
p.Arg1322His Single submitter
p.Arg1402Gly Single submitter
p.Arg1446Gln Single submitter
p.Arg1518Gly Single submitter
p.Arg1608Trp Single submitter
p.Arg1638Met Single submitter
p.Arg1868Gln Single submitter
p.Arg1933Gln Single submitter
p.Arg1961Gln Single submitter
p.Arg2027Gln Single submitter
p.Arg2062Trp Single submitter
p.Arg2076Gly Single submitter
p.Arg2079Cys Single submitter
p.Arg2079His Single submitter
p.Arg2137Gln Single submitter
p.Arg2188Gln Single submitter
p.Arg2188Trp Single submitter
p.Arg2208Thr Single submitter
p.Arg499Gly Single submitter
p.Arg552Ser Single submitter
p.Arg682Ser Single submitter
p.Arg80His Single submitter
p.Arg946Gln Single submitter
p.Asn1032Ser Single submitter
p.Asn1047Ser Single submitter
p.Asn1136Ser Single submitter
p.Asn1736Ile Single submitter
p.Asn1736Ser Single submitter
p.Asn195Thr Single submitter
p.Asn1985Asp Single submitter
p.Asn1985Ser Single submitter
p.Asn2012Lys Single submitter
p.Asn2015Lys Single submitter
p.Asn632Ser Single submitter
p.Asp1065Ala Single submitter
p.Asp1065Glu Single submitter
p.Asp134His Single submitter
p.Asp1351Gly Single submitter
p.Asp1439Gly Single submitter
p.Asp1489Asn Single submitter
p.Asp1574Gly Single submitter
p.Asp1597Asn Single submitter
p.Asp1938Asn Single submitter
p.Asp2156Asn Single submitter
p.Asp2180His Single submitter
p.Asp536Glu Single submitter
p.Cys1003Arg Single submitter
p.Cys1003Gly Single submitter
p.Cys12Tyr Single submitter
p.Gln1114His Single submitter
p.Gln1115Lys Single submitter
p.Gln1282Arg Single submitter
p.Gln149Arg Single submitter
p.Gln1514His Single submitter
p.Gln1584His Single submitter
p.Gln169Lys Single submitter
p.Gln2071Leu Single submitter
p.Gln30Glu Single submitter
p.Gln783Lys Single submitter
p.Gln98Glu Single submitter
p.Glu1002Lys Single submitter
p.Glu1382Asp Single submitter
p.Glu1839Gln Single submitter
p.Glu1926Gln Single submitter
p.Glu1989Asp Single submitter
p.Glu2069Lys Single submitter
p.Glu251Lys Single submitter
p.Glu319Asp Single submitter
p.Glu602Gly Single submitter
p.Glu713Ala Single submitter
p.Glu938Lys Single submitter
p.Glu981Lys Single submitter
p.Gly1150Trp Single submitter
p.Gly1199Arg Single submitter
p.Gly1299Asp Single submitter
p.Gly152Ser Single submitter
p.Gly1836Arg Single submitter
p.Gly2026Ser Single submitter
p.Gly238Ala Single submitter
p.Gly267Asp Single submitter
p.Gly267Ser Single submitter
p.Gly428Val Single submitter
p.Gly458Val Single submitter
p.Gly546Ala Single submitter
p.Gly569Ser Single submitter
p.Gly671Arg Single submitter
p.Gly834Ser Single submitter
p.Gly900Val Single submitter
p.Gly954Glu Single submitter
p.His1580Asn Single submitter
p.His2032Tyr Single submitter
p.Ile1119Thr Single submitter
p.Ile1133Phe Single submitter
p.Ile1425Val Single submitter
p.Ile1739Thr Single submitter
p.Ile1739Val Single submitter
p.Ile1848Thr Single submitter
p.Ile291Thr Single submitter
p.Ile83Phe Single submitter
p.Leu1053Phe Single submitter
p.Leu1495Phe Single submitter
p.Leu153Pro Single submitter
p.Leu1681Ile Single submitter
p.Leu1920Ile Single submitter
p.Leu32Val Single submitter
p.Leu566Ser Single submitter
p.Leu601Pro Single submitter
p.Leu630Arg Single submitter
p.Leu673Phe Single submitter
p.Leu691Pro Single submitter
p.Leu883Pro Single submitter
p.Lys1236Glu Single submitter
p.Lys140Arg Single submitter
p.Lys338Glu Single submitter
p.Lys396Glu Single submitter
p.Lys468Asn Single submitter
p.Lys545Glu Single submitter
p.Lys998Asn Single submitter
p.Met1631Val Single submitter
p.Met1911Val Single submitter
p.Met455Val Single submitter
p.Met489Ile Single submitter
p.Phe1336Cys Single submitter
p.Phe740Ser Single submitter
p.Pro1080Leu Single submitter
p.Pro1148Ala Single submitter
p.Pro1352Leu Single submitter
p.Pro1564Ser Single submitter
p.Pro1667Ala Single submitter
p.Pro168Leu Single submitter
p.Pro1728Arg Single submitter
p.Pro1779Ser Single submitter
p.Pro1826Leu Single submitter
p.Pro1833Thr Single submitter
p.Pro1882Ser Single submitter
p.Pro1943Thr Single submitter
p.Pro2113Leu Single submitter
p.Pro328Ala Single submitter
p.Pro330Ser Single submitter
p.Pro423Ala Single submitter
p.Pro531Ser Single submitter
p.Pro772Ser Single submitter
p.Pro861Ser Single submitter
p.Pro886His Single submitter
p.Pro91Leu Single submitter
p.Ser1015Asn Single submitter
p.Ser108Phe Single submitter
p.Ser1095Cys Single submitter
p.Ser1116Pro Single submitter
p.Ser1141Arg Single submitter
p.Ser129Arg Single submitter
p.Ser1326Leu Single submitter
p.Ser1356Asn Single submitter
p.Ser145Arg Single submitter
p.Ser1647Leu Single submitter
p.Ser1685Phe Single submitter
p.Ser1876Cys Single submitter
p.Ser1884Phe Single submitter
p.Ser1936Leu Single submitter
p.Ser1973Phe Single submitter
p.Ser1973Pro Single submitter
p.Ser201Thr Single submitter
p.Ser225Leu Single submitter
p.Ser231Ala Single submitter
p.Ser523Thr Single submitter
p.Ser611Cys Single submitter
p.Ser615Gly Single submitter
p.Ser617Pro Single submitter
p.Ser765Ala Single submitter
p.Ser849Cys Single submitter
p.Ser865Cys Single submitter
p.Ser879Asn Single submitter
p.Ser918Asn Single submitter
p.Ser958Thr Single submitter
p.Ser969Tyr Single submitter
p.Thr1143Met Single submitter
p.Thr1274Ala Single submitter
p.Thr1316Asn Single submitter
p.Thr1498Met Single submitter
p.Thr165Met Single submitter
p.Thr1793Ala Single submitter
p.Thr233Ala Single submitter
p.Thr341Met Single submitter
p.Thr351Asn Single submitter
p.Thr402Ile Single submitter
p.Thr415Ser Single submitter
p.Thr46Ala Single submitter
p.Thr46Ile Single submitter
p.Thr516Ile Single submitter
p.Thr522Ile Single submitter
p.Thr541Ala Single submitter
p.Thr754Ala Single submitter
p.Thr843Ala Single submitter
p.Thr859Pro Single submitter
p.Thr94Asn Single submitter
p.Thr974Ala Single submitter
p.Thr993Ala Single submitter
p.Thr993Ile Single submitter
p.Trp1332Arg Single submitter
p.Trp1409Leu Single submitter
p.Trp222Leu Single submitter
p.Trp623Gly Single submitter
p.Trp623Leu Single submitter
p.Trp970Arg Single submitter
p.Tyr1279Phe Single submitter
p.Tyr397Cys Single submitter
p.Tyr649Cys Single submitter
p.Tyr926Ser Single submitter
p.Tyr937Cys Single submitter
p.Tyr96Cys Single submitter
p.Val1009Ala Single submitter
p.Val1078Ala Single submitter
p.Val1167Ala Single submitter
p.Val1216Leu Single submitter
p.Val1350Ala Single submitter
p.Val1457Met Single submitter
p.Val1615Ile Single submitter
p.Val1655Ala Single submitter
p.Val1710Ala Single submitter
p.Val1864Met Single submitter
p.Val2013Ile Single submitter
p.Val2017Ile Single submitter
p.Val2023Leu Single submitter
p.Val2085Ala Single submitter
p.Val2154Ala Single submitter
p.Val2181Ile Single submitter
p.Val223Ala Single submitter
p.Val553Gly Single submitter
p.Val590Met Single submitter
p.Val614Met Single submitter
p.Val635Ala Single submitter
p.Val63Ile Single submitter
p.Val642Leu Single submitter
p.Val744Met Single submitter
p.Val839Met Single submitter
p.Val889Met Single submitter
p.Val968Ala Single submitter
p.Val982Ala Single submitter