UTP20 — 397 ClinVar variants

All ClinVar germline UTP20 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 260 flagged for review →

2 Conflicting · 13 Benign · 2 Benign/Likely benign · 22 Likely benign · 358 Uncertain significance

Full UTP20 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 260

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 1

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

UTP20 p.Val1905Ile Conflicting Single submitter

Predictors lean, ClinVar uncertain 249

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 249

Predictors split 10

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

All UTP20 variants

Conflicting classifications of pathogenicity 2

p.Asn377Tyr Single submitter
p.Val1905Ile Single submitter ⚠

Benign 13

c.735+8A>C Multiple submitters
p.His1302= Multiple submitters
p.His1934Arg Multiple submitters
p.His304= Multiple submitters
p.Leu2053= Multiple submitters
p.Lys1979Glu Multiple submitters
p.Lys2128Arg Multiple submitters
p.Met167Ile Multiple submitters
p.Pro339Thr Multiple submitters
p.Thr18= Multiple submitters
p.Val2115= Multiple submitters
p.Arg2173Gly Single submitter
p.Pro720= Single submitter

Benign/Likely benign 2

p.Ala2599= Multiple submitters
p.Ser135= Multiple submitters

Likely benign 22

p.Ala1704Thr Single submitter
p.Arg252Gln Single submitter
p.Arg400His Single submitter
p.Gln2501Arg Single submitter
p.Gly1289Asp Single submitter
p.Gly2603Arg Single submitter
p.Gly2614Ser Single submitter
p.Leu2711= Single submitter
p.Leu273= Single submitter
p.Leu944= Single submitter
p.Lys2577Glu Single submitter
p.Pro1739Leu Single submitter
p.Thr1412= Single submitter
p.Thr2341Met Single submitter
p.Thr340Met Single submitter
p.Thr3Pro Single submitter
p.Thr606Ala Single submitter
p.Val1256Ala Single submitter
p.Val1762Ile Single submitter
p.Val2066= Single submitter
p.Val968Ile Single submitter
p.Val98Ile Single submitter

Uncertain significance 358

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

p.Ile1931Thr Multiple submitters UTP20-related condition
p.Ala1003Thr Single submitter ⚠
p.Ala1046Ser Single submitter ⚠
p.Ala1213Thr Single submitter ⚠
p.Ala1317Ser Single submitter ⚠
p.Ala1651Glu Single submitter ⚠
p.Ala1870Val Single submitter ⚠
p.Ala189Thr Single submitter
p.Ala1941Thr Single submitter
p.Ala2048Val Single submitter ⚠
p.Ala2072Ser Single submitter ⚠
p.Ala2167Thr Single submitter
p.Ala2171Ser Single submitter ⚠
p.Ala2172Thr Single submitter ⚠
p.Ala2260Thr Single submitter ⚠
p.Ala2308Thr Single submitter ⚠
p.Ala2517Thr Single submitter ⚠
p.Ala2535Thr Single submitter ⚠
p.Ala2617Thr Single submitter ⚠
p.Ala342Thr Single submitter ⚠
p.Ala454Val Single submitter ⚠
p.Ala463Thr Single submitter ⚠
p.Ala885Thr Single submitter ⚠
p.Ala917Val Single submitter ⚠
p.Arg1005Gln Single submitter
p.Arg1093His Single submitter
p.Arg1153Cys Single submitter
p.Arg1153His Single submitter ⚠
p.Arg1153Ser Single submitter
p.Arg1520Cys Single submitter ⚠
p.Arg1720Cys Single submitter ⚠
p.Arg1820Gln Single submitter
p.Arg1894Gly Single submitter
p.Arg1998Gln Single submitter ⚠
p.Arg2005Cys Single submitter
p.Arg2005His Single submitter
p.Arg2006Gln Single submitter ⚠
p.Arg2006Gly Single submitter
p.Arg2052Cys Single submitter
p.Arg2067Gln Single submitter
p.Arg2089Gln Single submitter ⚠
p.Arg2246Gln Single submitter ⚠
p.Arg22Gln Single submitter
p.Arg2402Ile Single submitter
p.Arg2433His Single submitter ⚠
p.Arg2628Gln Single submitter ⚠
p.Arg2628Trp Single submitter ⚠
p.Arg2727Gln Single submitter ⚠
p.Arg2727Trp Single submitter ⚠
p.Arg2765His Single submitter UTP20-related condition ⚠
p.Arg33Trp Single submitter
p.Arg396Thr Single submitter ⚠
p.Arg588Cys Single submitter ⚠
p.Arg588Leu Single submitter ⚠
p.Arg646Gln Single submitter ⚠
p.Arg646Trp Single submitter ⚠
p.Arg651Ser Single submitter
p.Arg672Trp Single submitter ⚠
p.Arg838Gln Single submitter
p.Arg838Trp Single submitter
p.Arg848Lys Single submitter ⚠
p.Arg868Gln Single submitter ⚠
p.Arg868Trp Single submitter ⚠
p.Arg908Ser Single submitter
p.Arg909Ser Single submitter ⚠
p.Arg909Thr Single submitter ⚠
p.Arg977Trp Single submitter
p.Asn1261Asp Single submitter ⚠
p.Asn1364Ser Single submitter ⚠
p.Asn1403Lys Single submitter ⚠
p.Asn1508Thr Single submitter ⚠
p.Asn1914Ser Single submitter ⚠
p.Asn2182Ser Single submitter ⚠
p.Asn2336Ser Single submitter
p.Asn2450His Single submitter ⚠
p.Asn2504Asp Single submitter ⚠
p.Asn776Thr Single submitter ⚠
p.Asn79Ser Single submitter ⚠
p.Asn852Ser Single submitter ⚠
p.Asp1082Asn Single submitter ⚠
p.Asp1084Asn Single submitter ⚠
p.Asp1135Gly Single submitter ⚠
p.Asp1165Gly Single submitter ⚠
p.Asp117Tyr Single submitter ⚠
p.Asp1230Gly Single submitter ⚠
p.Asp141Asn Single submitter ⚠
p.Asp1437Gly Single submitter
p.Asp1447Asn Single submitter
p.Asp1560Asn Single submitter
p.Asp1573His Single submitter
p.Asp2050Glu Single submitter ⚠
p.Asp2242Asn Single submitter ⚠
p.Asp2337Val Single submitter ⚠
p.Asp2581Glu Single submitter ⚠
p.Asp343Asn Single submitter ⚠
p.Asp343His Single submitter ⚠
p.Asp434Gly Single submitter ⚠
p.Asp777Asn Single submitter ⚠
p.Cys2264Tyr Single submitter ⚠
p.Cys242Ser Single submitter
p.Cys2449Tyr Single submitter
p.Cys811Arg Single submitter ⚠
p.Gln1029Leu Single submitter
p.Gln1308His Single submitter ⚠
p.Gln1454His Single submitter ⚠
p.Gln1889Arg Single submitter ⚠
p.Gln1897Leu Single submitter ⚠
p.Gln1948Lys Single submitter ⚠
p.Gln1989Leu Single submitter ⚠
p.Gln681Arg Single submitter ⚠
p.Gln950Glu Single submitter ⚠
p.Gln976Glu Single submitter ⚠
p.Glu1081Gly Single submitter ⚠
p.Glu1228Asp Single submitter ⚠
p.Glu1266Lys Single submitter ⚠
p.Glu1290Gly Single submitter ⚠
p.Glu1347Ala Single submitter ⚠
p.Glu1347Gly Single submitter ⚠
p.Glu1370Lys Single submitter
p.Glu1511Ala Single submitter ⚠
p.Glu1723Lys Single submitter ⚠
p.Glu2020Lys Single submitter ⚠
p.Glu2085Asp Single submitter ⚠
p.Glu2428Gly Single submitter
p.Glu2498Lys Single submitter ⚠
p.Glu2514Val Single submitter ⚠
p.Glu2568Lys Single submitter ⚠
p.Glu2698Gln Single submitter ⚠
p.Glu2785Gln Single submitter ⚠
p.Glu324Asp Single submitter ⚠
p.Glu387Gly Single submitter ⚠
p.Glu398Val Single submitter ⚠
p.Glu718Gln Single submitter ⚠
p.Glu749Lys Single submitter ⚠
p.Glu87Lys Single submitter ⚠
p.Glu880Lys Single submitter ⚠
p.Glu995Gly Single submitter
p.Gly1047Val Single submitter
p.Gly1096Ser Single submitter ⚠
p.Gly1192Glu Single submitter ⚠
p.Gly1296Glu Single submitter ⚠
p.Gly1423Glu Single submitter ⚠
p.Gly1423Val Single submitter ⚠
p.Gly1529Val Single submitter
p.Gly1666Arg Single submitter ⚠
p.Gly1919Arg Single submitter
p.Gly2170Arg Single submitter
p.Gly2324Arg Single submitter
p.Gly2355Arg Single submitter ⚠
p.Gly244Asp Single submitter ⚠
p.Gly244Ser Single submitter ⚠
p.Gly270Glu Single submitter ⚠
p.Gly51Ser Single submitter ⚠
p.Gly726Ser Single submitter ⚠
p.Gly798Glu Single submitter ⚠
p.Gly873Glu Single submitter ⚠
p.His1629Gln Single submitter ⚠
p.His1658Asn Single submitter ⚠
p.His1688Arg Single submitter ⚠
p.His2467Tyr Single submitter ⚠
p.His2511Asp Single submitter ⚠
p.His304Gln Single submitter ⚠
p.His582Asn Single submitter ⚠
p.His63Arg Single submitter
p.His698Arg Single submitter ⚠
p.His748Tyr Single submitter ⚠
p.His8Arg Single submitter
p.His8Tyr Single submitter
p.His918Tyr Single submitter
p.Ile1053Thr Single submitter
p.Ile1108Met Single submitter ⚠
p.Ile1122Leu Single submitter ⚠
p.Ile1156Phe Single submitter ⚠
p.Ile1156Thr Single submitter
p.Ile1251Thr Single submitter ⚠
p.Ile1255Val Single submitter ⚠
p.Ile1394Thr Single submitter ⚠
p.Ile1394Val Single submitter ⚠
p.Ile1427Met Single submitter ⚠
p.Ile1544Val Single submitter ⚠
p.Ile1632Thr Single submitter
p.Ile1668Met Single submitter ⚠
p.Ile1698Thr Single submitter ⚠
p.Ile1758Val Single submitter ⚠
p.Ile185Val Single submitter ⚠
p.Ile1864Val Single submitter ⚠
p.Ile1873Met Single submitter ⚠
p.Ile1873Thr Single submitter ⚠
p.Ile1873Val Single submitter ⚠
p.Ile1931Met Single submitter ⚠
p.Ile2082Thr Single submitter
p.Ile2119Val Single submitter ⚠
p.Ile2357Leu Single submitter ⚠
p.Ile2660Thr Single submitter ⚠
p.Ile2697Thr Single submitter ⚠
p.Ile30Ser Single submitter ⚠
p.Ile433Thr Single submitter ⚠
p.Ile445Val Single submitter ⚠
p.Ile645Ser Single submitter
p.Ile88Val Single submitter ⚠
p.Ile988Val Single submitter ⚠
p.Leu107Val Single submitter ⚠
p.Leu1091Val Single submitter ⚠
p.Leu1098Phe Single submitter ⚠
p.Leu1101Phe Single submitter
p.Leu1123Val Single submitter
p.Leu1239Ile Single submitter ⚠
p.Leu1239Val Single submitter ⚠
p.Leu1275Val Single submitter ⚠
p.Leu1333Ile Single submitter
p.Leu1333Pro Single submitter ⚠
p.Leu1360Phe Single submitter
p.Leu1374Val Single submitter ⚠
p.Leu1397His Single submitter ⚠
p.Leu1597Ile Single submitter ⚠
p.Leu1672Pro Single submitter
p.Leu1830Ile Single submitter
p.Leu1853Pro Single submitter
p.Leu1854Phe Single submitter
p.Leu1921Trp Single submitter
p.Leu2179Val Single submitter ⚠
p.Leu2207Val Single submitter
p.Leu2289Pro Single submitter ⚠
p.Leu2545Trp Single submitter
p.Leu2557Val Single submitter ⚠
p.Leu2778Val Single submitter ⚠
p.Leu323Trp Single submitter
p.Leu374Gln Single submitter
p.Leu561Val Single submitter ⚠
p.Leu800Val Single submitter ⚠
p.Leu847Ser Single submitter ⚠
p.Leu919Val Single submitter
p.Leu969His Single submitter
p.Lys1321Asn Single submitter ⚠
p.Lys1645Asn Single submitter ⚠
p.Lys1645Ile Single submitter ⚠
p.Lys1800Thr Single submitter ⚠
p.Lys1849Glu Single submitter
p.Lys1985Arg Single submitter ⚠
p.Lys1999Gln Single submitter
p.Lys2164Arg Single submitter ⚠
p.Lys220Glu Single submitter
p.Lys2412Arg Single submitter ⚠
p.Lys2662Glu Single submitter ⚠
p.Lys2702Arg Single submitter ⚠
p.Lys2760Arg Single submitter ⚠
p.Lys320Gln Single submitter ⚠
p.Lys413Arg Single submitter ⚠
p.Lys590Arg Single submitter ⚠
p.Met1158Thr Single submitter ⚠
p.Met120Leu Single submitter ⚠
p.Met1253Ile Single submitter
p.Met167Thr Single submitter
p.Met1928Ile Single submitter
p.Met210Val Single submitter ⚠
p.Met2288Leu Single submitter ⚠
p.Met2288Lys Single submitter
p.Met2325Thr Single submitter ⚠
p.Met2656Thr Single submitter ⚠
p.Met750Val Single submitter ⚠
p.Phe129Leu Single submitter
p.Phe1436Leu Single submitter ⚠
p.Phe1479Leu Single submitter ⚠
p.Phe1552Ser Single submitter
p.Phe1575Ser Single submitter ⚠
p.Phe1971Ser Single submitter
p.Phe2268Ser Single submitter
p.Phe2454Tyr Single submitter ⚠
p.Phe822Val Single submitter ⚠
p.Phe925Val Single submitter
p.Pro1117Leu Single submitter
p.Pro1217Thr Single submitter ⚠
p.Pro1224Ala Single submitter ⚠
p.Pro1742His Single submitter ⚠
p.Pro1742Leu Single submitter ⚠
p.Pro2035Arg Single submitter
p.Pro2113Ser Single submitter
p.Pro218Arg Single submitter
p.Pro2616Leu Single submitter ⚠
p.Pro2665Leu Single submitter ⚠
p.Pro2739Thr Single submitter
p.Pro661Arg Single submitter ⚠
p.Pro856Leu Single submitter ⚠
p.Pro856Ser Single submitter ⚠
p.Pro966Leu Single submitter
p.Ser1245Ala Single submitter ⚠
p.Ser135Leu Single submitter ⚠
p.Ser1494Gly Single submitter ⚠
p.Ser1494Thr Single submitter ⚠
p.Ser1532Gly Single submitter ⚠
p.Ser1732Asn Single submitter ⚠
p.Ser1959Gly Single submitter ⚠
p.Ser201Phe Single submitter
p.Ser2031Arg Single submitter ⚠
p.Ser2466Arg Single submitter ⚠
p.Ser2637Leu Single submitter ⚠
p.Ser279Thr Single submitter ⚠
p.Ser334Arg Single submitter ⚠
p.Ser461Leu Single submitter ⚠
p.Ser788Ile Single submitter ⚠