TPR — 227 ClinVar variants

All ClinVar germline TPR variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 196 flagged for review →

2 Conflicting · 5 Benign · 3 Benign/Likely benign · 15 Likely benign · 202 Uncertain significance

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

⚑ Evidence disagreements 196

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 2

ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.

Predictors lean, ClinVar uncertain 162

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 162

Predictors split 32

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

All TPR variants

Conflicting classifications of pathogenicity 2

p.Met271Leu Single submitter ⚠
p.Thr1039Ile Single submitter ⚠

Benign 5

p.Leu1314= Multiple submitters
p.Pro2168Ser Multiple submitters
p.Thr762= Multiple submitters
p.Glu139Asp Single submitter
p.Gly2027= Single submitter

Benign/Likely benign 3

c.*1087G>T Multiple submitters
c.*1711A>G Multiple submitters
p.Arg467= Multiple submitters

Likely benign 15

p.Arg1832His Multiple submitters
c.4507-17T>A Single submitter
c.*1775A>G Single submitter
c.*296T>C Single submitter
p.Ala770= Single submitter
p.Arg1225= Single submitter
p.Asp1240= Single submitter
p.Gln966Arg Single submitter
p.Glu200Ala Single submitter ⚠
p.His2154= Single submitter
p.Leu855= Single submitter
p.Ser1318= Single submitter
p.Thr1707Ala Single submitter
p.Tyr725= Single submitter
p.Val1862= Single submitter

Uncertain significance 202

p.Thr1751Ala Multiple submitters ⚠
c.1390-73dup Single submitter intellectual developmental disorder, autosomal recessive 79
c.2610+5G>A Single submitter intellectual developmental disorder, autosomal recessive 79
c.*1104C>T Single submitter ⚠
c.*1812A>C Single submitter
p.Ala1025Thr Single submitter ⚠
p.Ala1312Thr Single submitter ⚠
p.Ala1684Thr Single submitter
p.Ala1789Val Single submitter ⚠
p.Ala2062Pro Single submitter ⚠
p.Ala2237Gly Single submitter ⚠
p.Ala293Thr Single submitter ⚠
p.Ala30Gly Single submitter ⚠
p.Ala377Thr Single submitter ⚠
p.Ala447Thr Single submitter ⚠
p.Ala450Thr Single submitter ⚠
p.Arg105His Single submitter ⚠
p.Arg105Leu Single submitter ⚠
p.Arg1066Cys Single submitter ⚠
p.Arg1066Ser Single submitter ⚠
p.Arg1223Cys Single submitter ⚠
p.Arg1225Gln Single submitter ⚠
p.Arg147Cys Single submitter ⚠
p.Arg147His Single submitter ⚠
p.Arg1529His Single submitter ⚠
p.Arg1612Leu Single submitter ⚠
p.Arg182Leu Single submitter ⚠
p.Arg2076His Single submitter ⚠
p.Arg2145Pro Single submitter ⚠
p.Arg2209Gln Single submitter ⚠
p.Arg2209Ter Single submitter intellectual developmental disorder, autosomal recessive 79
p.Arg2333Lys Single submitter ⚠
p.Arg305Gln Single submitter ⚠
p.Arg305Trp Single submitter ⚠
p.Arg439His Single submitter ⚠
p.Arg441His Single submitter ⚠
p.Arg446Cys Single submitter ⚠
p.Arg467Gln Single submitter ⚠
p.Arg552Cys Single submitter ⚠
p.Arg552His Single submitter ⚠
p.Arg609Cys Single submitter
p.Arg615His Single submitter
p.Arg797His Single submitter ⚠
p.Arg922Ile Single submitter ⚠
p.Asn1790Ser Single submitter ⚠
p.Asn217Asp Single submitter ⚠
p.Asn280Ile Single submitter ⚠
p.Asn287Ser Single submitter ⚠
p.Asn301Asp Single submitter ⚠
p.Asn357Ser Single submitter ⚠
p.Asn813His Single submitter ⚠
p.Asn989Ser Single submitter ⚠
p.Asp104Tyr Single submitter ⚠
p.Asp1596Asn Single submitter ⚠
p.Asp1844Glu Single submitter ⚠
p.Asp1919Asn Single submitter ⚠
p.Asp1941Glu Single submitter ⚠
p.Asp1956Asn Single submitter ⚠
p.Asp1964Gly Single submitter ⚠
p.Asp1964Val Single submitter ⚠
p.Asp1974Glu Single submitter ⚠
p.Asp1999Glu Single submitter ⚠
p.Asp1999Gly Single submitter ⚠
p.Asp206Gly Single submitter ⚠
p.Asp485His Single submitter intellectual developmental disorder, autosomal recessive 79 ⚠
p.Asp518Glu Single submitter ⚠
p.Gln1003His Single submitter ⚠
p.Gln1016His Single submitter ⚠
p.Gln1250Pro Single submitter ⚠
p.Gln1520His Single submitter ⚠
p.Gln1573Glu Single submitter ⚠
p.Gln1726Leu Single submitter ⚠
p.Gln1927Arg Single submitter ⚠
p.Gln2051Glu Single submitter ⚠
p.Gln22Glu Single submitter ⚠
p.Gln2344His Single submitter intellectual developmental disorder, autosomal recessive 79 ⚠
p.Gln754Arg Single submitter ⚠
p.Gln823Arg Single submitter ⚠
p.Glu1070Lys Single submitter ⚠
p.Glu1284Asp Single submitter ⚠
p.Glu1309Asp Single submitter ⚠
p.Glu1353Lys Single submitter
p.Glu1506Gly Single submitter ⚠
p.Glu1833Lys Single submitter ⚠
p.Glu1953Asp Single submitter ⚠
p.Glu2020Asp Single submitter ⚠
p.Glu2020Gly Single submitter ⚠
p.Glu248Gly Single submitter ⚠
p.Glu404Val Single submitter
p.Glu431Lys Single submitter ⚠
p.Glu782Lys Single submitter ⚠
p.Glu803Val Single submitter ⚠
p.Glu808Val Single submitter ⚠
p.Gly1464Arg Single submitter ⚠
p.Gly1901Arg Single submitter ⚠
p.Gly2190Val Single submitter ⚠
p.His1737Arg Single submitter ⚠
p.His191Arg Single submitter ⚠
p.His2144Tyr Single submitter ⚠
p.His249Leu Single submitter ⚠
p.His253Arg Single submitter ⚠
p.His599Gln Single submitter ⚠
p.His629Arg Single submitter ⚠
p.Ile109Phe Single submitter ⚠
p.Ile1203Thr Single submitter ⚠
p.Ile1368Val Single submitter ⚠
p.Ile1424Val Single submitter ⚠
p.Ile1431Val Single submitter ⚠
p.Ile1669Val Single submitter ⚠
p.Ile1894Val Single submitter ⚠
p.Ile1918Val Single submitter ⚠
p.Ile2119Leu Single submitter ⚠
p.Ile36Met Single submitter ⚠
p.Ile388Val Single submitter ⚠
p.Ile576Val Single submitter ⚠
p.Ile616Val Single submitter ⚠
p.Ile825Met Single submitter ⚠
p.Leu138Val Single submitter ⚠
p.Leu1514Phe Single submitter ⚠
p.Leu1528Arg Single submitter ⚠
p.Leu2300Arg Single submitter ⚠
p.Leu343Val Single submitter ⚠
p.Leu370Val Single submitter ⚠
p.Leu628Ser Single submitter ⚠
p.Leu92Arg Single submitter ⚠
p.Leu951Phe Single submitter ⚠
p.Lys1022Gln Single submitter ⚠
p.Lys1333Arg Single submitter ⚠
p.Lys1637Met Single submitter ⚠
p.Lys230Glu Single submitter ⚠
p.Met1269Ile Single submitter ⚠
p.Met1476Arg Single submitter ⚠
p.Met1686Val Single submitter ⚠
p.Met1700Leu Single submitter ⚠
p.Met1872Val Single submitter ⚠
p.Met2172Thr Single submitter ⚠
p.Met271Arg Single submitter ⚠
p.Met378Thr Single submitter ⚠
p.Met462Leu Single submitter ⚠
p.Met489Val Single submitter ⚠
p.Met911Val Single submitter ⚠
p.Phe2127Leu Single submitter ⚠
p.Pro1809Leu Single submitter ⚠
p.Pro2068Ser Single submitter ⚠
p.Pro2068Thr Single submitter ⚠
p.Pro2091Ser Single submitter ⚠
p.Pro2143Leu Single submitter ⚠
p.Pro2221Thr Single submitter ⚠
p.Pro2301Leu Single submitter ⚠
p.Pro380Ser Single submitter ⚠
p.Pro391Arg Single submitter ⚠
p.Ser1042Arg Single submitter ⚠
p.Ser1042Gly Single submitter ⚠
p.Ser1055Arg Single submitter ⚠
p.Ser155Asn Single submitter ⚠
p.Ser1745Cys Single submitter ⚠
p.Ser1876Asn Single submitter ⚠
p.Ser1876Thr Single submitter ⚠
p.Ser1932Leu Single submitter ⚠
p.Ser2063Tyr Single submitter ⚠
p.Ser2316Asn Single submitter ⚠
p.Ser270Ile Single submitter ⚠
p.Ser64Gly Single submitter ⚠
p.Ser794Thr Single submitter ⚠
p.Ser849Pro Single submitter ⚠
p.Thr1266Ser Single submitter ⚠
p.Thr1365Ser Single submitter ⚠
p.Thr142Ala Single submitter ⚠
p.Thr1482Met Single submitter ⚠
p.Thr1503Arg Single submitter ⚠
p.Thr1536Ala Single submitter ⚠
p.Thr158Ile Single submitter ⚠
p.Thr1714Ala Single submitter ⚠
p.Thr1979Pro Single submitter ⚠
p.Thr2230Ile Single submitter ⚠
p.Thr2254Ala Single submitter ⚠
p.Thr381Ala Single submitter ⚠
p.Thr472Ala Single submitter ⚠
p.Thr833Ile Single submitter ⚠
p.Thr923Ser Single submitter ⚠
p.Thr93Ile Single submitter ⚠
p.Thr959Met Single submitter ⚠
p.Tyr1354His Single submitter ⚠
p.Tyr2001His Single submitter ⚠
p.Val1271Ile Single submitter ⚠
p.Val1343Leu Single submitter ⚠
p.Val1363Ile Single submitter ⚠
p.Val1723Met Single submitter ⚠
p.Val1735Met Single submitter ⚠
p.Val174Ile Single submitter ⚠
p.Val1898Ile Single submitter ⚠
p.Val1945Ile Single submitter ⚠
p.Val2141Leu Single submitter ⚠
p.Val2142Met Single submitter ⚠
p.Val307Gly Single submitter ⚠
p.Val331Met Single submitter ⚠
p.Val456Phe Single submitter ⚠
p.Val493Ala Single submitter ⚠
p.Val515Ile Single submitter ⚠
p.Val555Ala Single submitter ⚠
p.Val938Met Single submitter ⚠
p.Ile346Thr No assertion criteria intellectual disability ⚠