PTPRZ1 — 306 ClinVar variants

All ClinVar germline PTPRZ1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 269 flagged for review →

7 Benign · 17 Likely benign · 282 Uncertain significance

Full PTPRZ1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 269

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 237

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 237

Predictors split 32

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

All PTPRZ1 variants

Benign 7

p.Asp707= Multiple submitters
p.Ser1288= Multiple submitters
p.Ser293= Multiple submitters
c.5081-4G>A Single submitter
p.Gln1166= Single submitter
p.Lys1080Gln Single submitter
p.Val1024Leu Single submitter

Likely benign 17

c.4843+8A>G Single submitter
c.552+9T>C Single submitter
p.Ala557Val Single submitter
p.Arg833His Single submitter
p.Asp366= Single submitter
p.Gly440Asp Single submitter
p.Gly965Ser Single submitter
p.His1440Arg Single submitter
p.His1955= Single submitter
p.Ile1047Met Single submitter
p.Lys1407Arg Single submitter
p.Met648Val Single submitter
p.Ser1633= Single submitter
p.Val1070= Single submitter
p.Val1226Ala Single submitter
p.Val1611Ile Single submitter
p.Val683Ile Single submitter

Uncertain significance 282

c.1241-1_1245del Single submitter Spastic paraparesis
c.4843+1G>T Single submitter
c.5938-2A>G Single submitter
p.Ala1015Thr Single submitter ⚠
p.Ala1040Glu Single submitter ⚠
p.Ala1584Thr Single submitter ⚠
p.Ala160Val Single submitter ⚠
p.Ala1614Thr Single submitter ⚠
p.Ala2007Ser Single submitter ⚠
p.Ala2115Val Single submitter ⚠
p.Ala2230Ser Single submitter ⚠
p.Ala2230Val Single submitter ⚠
p.Ala347Thr Single submitter ⚠
p.Ala43Glu Single submitter ⚠
p.Ala511Thr Single submitter ⚠
p.Ala592Thr Single submitter ⚠
p.Ala817Val Single submitter ⚠
p.Ala825Pro Single submitter ⚠
p.Ala848Thr Single submitter ⚠
p.Ala874Ser Single submitter ⚠
p.Arg1486Gly Single submitter ⚠
p.Arg1624His Single submitter
p.Arg1680Thr Single submitter ⚠
p.Arg1755Gln Single submitter ⚠
p.Arg1834Gly Single submitter ⚠
p.Arg1923His Single submitter ⚠
p.Arg1969Cys Single submitter ⚠
p.Arg2053Gln Single submitter ⚠
p.Arg286Gln Single submitter ⚠
p.Arg336Gly Single submitter ⚠
p.Arg469Cys Single submitter ⚠
p.Arg469His Single submitter ⚠
p.Arg481Gln Single submitter ⚠
p.Arg481Pro Single submitter ⚠
p.Arg682Ser Single submitter ⚠
p.Asn1060Asp Single submitter ⚠
p.Asn1328Lys Single submitter ⚠
p.Asn1464Lys Single submitter ⚠
p.Asn1509Ser Single submitter ⚠
p.Asn1618Ser Single submitter ⚠
p.Asn1754Lys Single submitter ⚠
p.Asn1792Asp Single submitter ⚠
p.Asn2034Asp Single submitter ⚠
p.Asn2090Ser Single submitter ⚠
p.Asn376Ser Single submitter ⚠
p.Asn45His Single submitter ⚠
p.Asn677Thr Single submitter ⚠
p.Asn76Lys Single submitter ⚠
p.Asp1002Glu Single submitter ⚠
p.Asp1002Gly Single submitter ⚠
p.Asp1076Asn Single submitter ⚠
p.Asp1192Asn Single submitter ⚠
p.Asp1424Asn Single submitter ⚠
p.Asp1427Gly Single submitter ⚠
p.Asp1428Glu Single submitter ⚠
p.Asp1429Asn Single submitter ⚠
p.Asp1517Glu Single submitter ⚠
p.Asp1523His Single submitter ⚠
p.Asp1546Glu Single submitter ⚠
p.Asp1557Asn Single submitter ⚠
p.Asp1695Gly Single submitter ⚠
p.Asp1749His Single submitter ⚠
p.Asp1789Gly Single submitter ⚠
p.Asp1838Asn Single submitter ⚠
p.Asp1987Val Single submitter ⚠
p.Asp198Gly Single submitter ⚠
p.Asp2039Val Single submitter ⚠
p.Asp2112Glu Single submitter ⚠
p.Asp2139Ala Single submitter ⚠
p.Asp2169Asn Single submitter
p.Asp2250Asn Single submitter
p.Asp407Asn Single submitter ⚠
p.Asp736Val Single submitter ⚠
p.Asp878Glu Single submitter ⚠
p.Asp952Tyr Single submitter ⚠
p.Gln12His Single submitter ⚠
p.Gln1839Arg Single submitter ⚠
p.Gln2028Leu Single submitter ⚠
p.Gln209Arg Single submitter ⚠
p.Gln2253Arg Single submitter ⚠
p.Gln453Pro Single submitter ⚠
p.Gln750Glu Single submitter ⚠
p.Gln959His Single submitter ⚠
p.Glu1149Gly Single submitter ⚠
p.Glu1210Asp Single submitter ⚠
p.Glu1277Gly Single submitter ⚠
p.Glu145Ala Single submitter
p.Glu1463Lys Single submitter ⚠
p.Glu1483Lys Single submitter ⚠
p.Glu1604Lys Single submitter ⚠
p.Glu1607Asp Single submitter ⚠
p.Glu1632Lys Single submitter ⚠
p.Glu1632Val Single submitter
p.Glu1634Lys Single submitter ⚠
p.Glu168Asp Single submitter ⚠
p.Glu1774Ala Single submitter ⚠
p.Glu1831Lys Single submitter ⚠
p.Glu184Lys Single submitter ⚠
p.Glu1956Lys Single submitter ⚠
p.Glu201Lys Single submitter ⚠
p.Glu2224Asp Single submitter ⚠
p.Glu2289Lys Single submitter ⚠
p.Glu2309Lys Single submitter ⚠
p.Glu430Asp Single submitter ⚠
p.Glu439Gln Single submitter ⚠
p.Glu513Val Single submitter ⚠
p.Glu641Asp Single submitter ⚠
p.Glu722Ala Single submitter ⚠
p.Glu850Lys Single submitter ⚠
p.Glu909Gly Single submitter ⚠
p.Gly1346Cys Single submitter ⚠
p.Gly1346Val Single submitter ⚠
p.Gly1414Ser Single submitter ⚠
p.Gly1416Ser Single submitter ⚠
p.Gly1585Ser Single submitter ⚠
p.Gly1657Val Single submitter ⚠
p.Gly1697Arg Single submitter ⚠
p.Gly1850Arg Single submitter ⚠
p.Gly2016Arg Single submitter ⚠
p.Gly2074Ser Single submitter ⚠
p.Gly2217Arg Single submitter ⚠
p.Gly2264Glu Single submitter ⚠
p.Gly493Asp Single submitter ⚠
p.Gly606Glu Single submitter ⚠
p.Gly638Ser Single submitter ⚠
p.Gly755Ser Single submitter ⚠
p.Gly864Arg Single submitter ⚠
p.Gly893Asp Single submitter ⚠
p.His1373Leu Single submitter ⚠
p.His1440Tyr Single submitter ⚠
p.His1712Arg Single submitter ⚠
p.His1747Tyr Single submitter ⚠
p.His1986Gln Single submitter ⚠
p.His361Arg Single submitter ⚠
p.His726Tyr Single submitter ⚠
p.His836Pro Single submitter ⚠
p.His951Tyr Single submitter ⚠
p.Ile1300Thr Single submitter ⚠
p.Ile1376Val Single submitter ⚠
p.Ile1701Val Single submitter ⚠
p.Ile2093Met Single submitter ⚠
p.Ile2093Val Single submitter ⚠
p.Ile2269Val Single submitter ⚠
p.Ile565Val Single submitter ⚠
p.Ile608Met Single submitter ⚠
p.Ile780Val Single submitter ⚠
p.Ile977Val Single submitter ⚠
p.Leu1167Ile Single submitter ⚠
p.Leu1168Ser Single submitter ⚠
p.Leu1317Ser Single submitter ⚠
p.Leu2013Pro Single submitter ⚠
p.Leu2013Val Single submitter ⚠
p.Leu2030Val Single submitter ⚠
p.Leu220Arg Single submitter ⚠
p.Leu364Ser Single submitter ⚠
p.Leu415His Single submitter ⚠
p.Leu579Phe Single submitter ⚠
p.Leu579Pro Single submitter ⚠
p.Leu77Ile Single submitter ⚠
p.Leu77Phe Single submitter
p.Leu80Ile Single submitter ⚠
p.Leu819Phe Single submitter ⚠
p.Leu856Phe Single submitter ⚠
p.Lys1216Glu Single submitter ⚠
p.Lys1576Asn Single submitter ⚠
p.Lys1706Arg Single submitter ⚠
p.Lys175Arg Single submitter ⚠
p.Lys1805Arg Single submitter ⚠
p.Lys2245Asn Single submitter ⚠
p.Lys227Thr Single submitter ⚠
p.Lys79Gln Single submitter ⚠
p.Met1074Ile Single submitter ⚠
p.Met1456Leu Single submitter ⚠
p.Met1498Leu Single submitter ⚠
p.Met1902Val Single submitter
p.Met2219Val Single submitter ⚠
p.Met276Ile Single submitter ⚠
p.Met342Thr Single submitter ⚠
p.Met699Ile Single submitter ⚠
p.Met710Lys Single submitter ⚠
p.Met904Leu Single submitter ⚠
p.Met916Val Single submitter ⚠
p.Phe1005Val Single submitter ⚠
p.Phe1671Leu Single submitter ⚠
p.Phe183Ser Single submitter ⚠
p.Phe2132Leu Single submitter ⚠
p.Pro1072Leu Single submitter ⚠
p.Pro1150Leu Single submitter ⚠
p.Pro1163Ser Single submitter ⚠
p.Pro1532Ser Single submitter ⚠
p.Pro1597Ala Single submitter ⚠
p.Pro1640Thr Single submitter ⚠
p.Pro1679Arg Single submitter ⚠
p.Pro2141Leu Single submitter ⚠
p.Pro315Ala Single submitter ⚠
p.Pro409Thr Single submitter ⚠
p.Pro459His Single submitter ⚠
p.Pro506Ser Single submitter ⚠
p.Pro506Thr Single submitter ⚠
p.Pro591Arg Single submitter ⚠
p.Pro59Thr Single submitter ⚠
p.Pro624Thr Single submitter ⚠
p.Pro697Ala Single submitter ⚠
p.Pro751Leu Single submitter ⚠
p.Pro769Ala Single submitter ⚠
p.Pro798Leu Single submitter ⚠
p.Pro970Arg Single submitter ⚠
p.Pro972Arg Single submitter ⚠
p.Ser1158Gly Single submitter ⚠
p.Ser1162Pro Single submitter ⚠
p.Ser1229Tyr Single submitter ⚠
p.Ser1250Cys Single submitter ⚠
p.Ser1254Phe Single submitter ⚠
p.Ser1288Gly Single submitter ⚠
p.Ser1343Phe Single submitter ⚠
p.Ser1447Phe Single submitter ⚠
p.Ser1478Thr Single submitter ⚠
p.Ser1501Ile Single submitter ⚠
p.Ser1537Tyr Single submitter ⚠
p.Ser1683Cys Single submitter ⚠
p.Ser1881Pro Single submitter ⚠
p.Ser2031Gly Single submitter ⚠
p.Ser2041Pro Single submitter ⚠
p.Ser204Thr Single submitter ⚠
p.Ser2068Pro Single submitter ⚠
p.Ser2146Arg Single submitter ⚠
p.Ser2199Gly Single submitter ⚠
p.Ser2284Thr Single submitter ⚠
p.Ser293Cys Single submitter ⚠
p.Ser58Gly Single submitter ⚠
p.Ser604Phe Single submitter ⚠
p.Ser686Pro Single submitter ⚠
p.Ser764Asn Single submitter ⚠
p.Ser765Asn Single submitter ⚠
p.Ser896Pro Single submitter ⚠
p.Ser945Gly Single submitter ⚠
p.Ser974Phe Single submitter ⚠
p.Ser975Leu Single submitter ⚠
p.Thr1088Asn Single submitter ⚠
p.Thr1138Ala Single submitter ⚠
p.Thr1178Ala Single submitter ⚠
p.Thr1178Ile Single submitter ⚠
p.Thr1211Ile Single submitter ⚠
p.Thr1239Ser Single submitter ⚠
p.Thr1295Met Single submitter ⚠
p.Thr1359Ile Single submitter ⚠
p.Thr1573Ala Single submitter ⚠
p.Thr1668Ile Single submitter ⚠
p.Thr1677Ile Single submitter ⚠
p.Thr1723Lys Single submitter ⚠
p.Thr187Ala Single submitter ⚠
p.Thr1897Met Single submitter
p.Thr1913Ala Single submitter ⚠
p.Thr2021Ala Single submitter ⚠
p.Thr2229Met Single submitter ⚠
p.Thr463Ile Single submitter ⚠
p.Thr484Ala Single submitter ⚠
p.Thr498Ile Single submitter ⚠
p.Thr562Ala Single submitter ⚠
p.Thr635Ile Single submitter ⚠
p.Thr661Arg Single submitter ⚠
p.Thr837Arg Single submitter ⚠
p.Tyr1064His Single submitter ⚠
p.Tyr1943Cys Single submitter ⚠
p.Tyr607His Single submitter ⚠
p.Tyr718Phe Single submitter ⚠
p.Val1022Ala Single submitter ⚠
p.Val120Met Single submitter ⚠
p.Val1283Leu Single submitter ⚠
p.Val1348Ile Single submitter ⚠
p.Val1379Phe Single submitter ⚠
p.Val1608Met Single submitter ⚠
p.Val1820Ala Single submitter ⚠
p.Val1931Ile Single submitter ⚠
p.Val2119Ile Single submitter ⚠
p.Val2265Ile Single submitter ⚠
p.Val743Met Single submitter ⚠
p.Val744Leu Single submitter ⚠
p.Val845Leu Single submitter ⚠
p.Val942fs Single submitter
p.Ile2057Val No assertion criteria High myopia ⚠
p.Leu221= No assertion criteria