RIF1 — 371 ClinVar variants

All ClinVar germline RIF1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 316 flagged for review →

1 Conflicting · 2 Benign · 39 Likely benign · 329 Uncertain significance

Full RIF1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 316

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.

RIF1 p.Thr986Ala Conflicting Single submitter

Predictors lean, ClinVar uncertain 281

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 281

Predictors split 34

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

All RIF1 variants

Conflicting classifications of pathogenicity 1

p.Thr986Ala Single submitter ⚠

Benign 2

p.Thr1489= Multiple submitters
p.Asp1516= Single submitter

Likely benign 39

p.Arg1686Gln Multiple submitters
p.Pro1828Ser Multiple submitters
c.1986+8A>G Single submitter
c.7205-4_7205-3del Single submitter
p.Arg1181Lys Single submitter
p.Arg1565Lys Single submitter
p.Arg1835Lys Single submitter
p.Arg706Lys Single submitter
p.Asn1241Asp Single submitter
p.Asn1354Asp Single submitter
p.Asn1858Lys Single submitter
p.Asn1949Ser Single submitter
p.Asn2065Ser Single submitter
p.Asp1972Gly Single submitter
p.Gln2102His Single submitter
p.Gly1292Ser Single submitter
p.Gly25Glu Single submitter
p.His483Arg Single submitter
p.Ile108Val Single submitter
p.Ile1521= Single submitter
p.Ile2133Val Single submitter
p.Ile2403Thr Single submitter
p.Ile830Val Single submitter
p.Leu1474Val Single submitter
p.Leu259= Single submitter
p.Lys1817Glu Single submitter
p.Met1398Thr Single submitter
p.Met1841Thr Single submitter
p.Pro1328Ser Single submitter
p.Pro2123Thr Single submitter
p.Ser1394Pro Single submitter
p.Ser2157= Single submitter
p.Ser2454Cys Single submitter
p.Thr1607Asn Single submitter
p.Thr2089Ile Single submitter
p.Thr829= Single submitter
p.Tyr904= Single submitter
p.Val167Ile Single submitter
p.Val545= Single submitter

Uncertain significance 329

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

c.1546+4A>G Single submitter
p.Ala1059Val Single submitter ⚠
p.Ala1176Val Single submitter ⚠
p.Ala1914Thr Single submitter ⚠
p.Ala1996Thr Single submitter ⚠
p.Ala2132Val Single submitter ⚠
p.Ala2213Gly Single submitter ⚠
p.Ala2213Thr Single submitter ⚠
p.Ala296Ser Single submitter
p.Ala296Thr Single submitter ⚠
p.Ala400Asp Single submitter ⚠
p.Ala400Val Single submitter ⚠
p.Ala78Thr Single submitter ⚠
p.Arg1173Ser Single submitter ⚠
p.Arg1217Trp Single submitter ⚠
p.Arg1443Gln Single submitter ⚠
p.Arg1444His Single submitter ⚠
p.Arg1835Ser Single submitter ⚠
p.Arg202Gln Single submitter ⚠
p.Arg2264His Single submitter ⚠
p.Arg2369His Single submitter ⚠
p.Arg411Gln Single submitter ⚠
p.Asn1152Asp Single submitter ⚠
p.Asn1232Ser Single submitter ⚠
p.Asn1313Lys Single submitter ⚠
p.Asn1410Ser Single submitter ⚠
p.Asn1648Asp Single submitter ⚠
p.Asn1821Asp Single submitter ⚠
p.Asn1833Asp Single submitter ⚠
p.Asn1871His Single submitter ⚠
p.Asn1902Ser Single submitter ⚠
p.Asn1949His Single submitter ⚠
p.Asn2041Lys Single submitter ⚠
p.Asn2101Asp Single submitter ⚠
p.Asn2101Ser Single submitter ⚠
p.Asn2251Ile Single submitter ⚠
p.Asn2297Ser Single submitter ⚠
p.Asn2353Ser Single submitter ⚠
p.Asn517Ile Single submitter ⚠
p.Asn832Ser Single submitter ⚠
p.Asn883Ser Single submitter ⚠
p.Asn924Ser Single submitter ⚠
p.Asn988Ile Single submitter ⚠
p.Asp1048Gly Single submitter
p.Asp1066Asn Single submitter ⚠
p.Asp1091Gly Single submitter
p.Asp1115Gly Single submitter ⚠
p.Asp112Glu Single submitter ⚠
p.Asp1134Tyr Single submitter ⚠
p.Asp1159Ala Single submitter ⚠
p.Asp1228Gly Single submitter ⚠
p.Asp1433Gly Single submitter ⚠
p.Asp1516Asn Single submitter ⚠
p.Asp1516Val Single submitter ⚠
p.Asp1520Asn Single submitter ⚠
p.Asp1611Gly Single submitter ⚠
p.Asp1644His Single submitter ⚠
p.Asp1687Asn Single submitter ⚠
p.Asp1704His Single submitter ⚠
p.Asp1766Val Single submitter ⚠
p.Asp1805Asn Single submitter ⚠
p.Asp1977Tyr Single submitter ⚠
p.Asp2007His Single submitter ⚠
p.Asp2069His Single submitter ⚠
p.Asp744Val Single submitter ⚠
p.Cys1337Tyr Single submitter ⚠
p.Cys1594Arg Single submitter ⚠
p.Cys1865Tyr Single submitter ⚠
p.Cys2068Gly Single submitter ⚠
p.Cys2169Arg Single submitter ⚠
p.Cys2223Arg Single submitter ⚠
p.Cys917Arg Single submitter ⚠
p.Gln1096His Single submitter ⚠
p.Gln1334Arg Single submitter ⚠
p.Gln1411Arg Single submitter ⚠
p.Gln1439Glu Single submitter ⚠
p.Gln1452Arg Single submitter ⚠
p.Gln1501Pro Single submitter ⚠
p.Gln1592His Single submitter ⚠
p.Gln1600Glu Single submitter ⚠
p.Gln1740Pro Single submitter ⚠
p.Gln238Pro Single submitter ⚠
p.Gln2460Arg Single submitter ⚠
p.Gln276Glu Single submitter ⚠
p.Gln777Arg Single submitter ⚠
p.Gln930Arg Single submitter ⚠
p.Gln990Arg Single submitter ⚠
p.Glu1042Lys Single submitter ⚠
p.Glu1044Gly Single submitter ⚠
p.Glu1070Asp Single submitter ⚠
p.Glu1070Val Single submitter ⚠
p.Glu1123Lys Single submitter ⚠
p.Glu1225Asp Single submitter ⚠
p.Glu1319Ala Single submitter ⚠
p.Glu1374Ter Single submitter
p.Glu1375Lys Single submitter ⚠
p.Glu1487Lys Single submitter ⚠
p.Glu1671Lys Single submitter ⚠
p.Glu1696Ala Single submitter ⚠
p.Glu1710Gly Single submitter ⚠
p.Glu1737Asp Single submitter ⚠
p.Glu1753Gly Single submitter ⚠
p.Glu1882Gly Single submitter ⚠
p.Glu1895Lys Single submitter ⚠
p.Glu2028Lys Single submitter ⚠
p.Glu2062Lys Single submitter ⚠
p.Glu2121Lys Single submitter ⚠
p.Glu2122Lys Single submitter ⚠
p.Glu2363Gly Single submitter ⚠
p.Glu2372Lys Single submitter ⚠
p.Glu2446Lys Single submitter ⚠
p.Glu41Gly Single submitter ⚠
p.Glu461Gly Single submitter ⚠
p.Glu608Gln Single submitter ⚠
p.Glu745Gly Single submitter ⚠
p.Gly1140Ser Single submitter ⚠
p.Gly1936Cys Single submitter ⚠
p.Gly2027Ser Single submitter ⚠
p.Gly2078Arg Single submitter ⚠
p.Gly2185Arg Single submitter ⚠
p.Gly405Arg Single submitter ⚠
p.Gly419Val Single submitter ⚠
p.Gly565Ser Single submitter ⚠
p.Gly669Ser Single submitter ⚠
p.Gly968Ala Single submitter ⚠
p.His1344Tyr Single submitter ⚠
p.His1486Tyr Single submitter ⚠
p.His1684Tyr Single submitter ⚠
p.His1792Arg Single submitter ⚠
p.His2009Tyr Single submitter ⚠
p.His200Asn Single submitter ⚠
p.His2035Gln Single submitter ⚠
p.His2115Arg Single submitter ⚠
p.His23Arg Single submitter ⚠
p.His2434Arg Single submitter ⚠
p.His2434Tyr Single submitter ⚠
p.His2468Pro Single submitter ⚠
p.His674Tyr Single submitter ⚠
p.His823Asp Single submitter ⚠
p.Ile1393Thr Single submitter ⚠
p.Ile1521Met Single submitter ⚠
p.Ile1614Val Single submitter ⚠
p.Ile170Met Single submitter ⚠
p.Ile1943Val Single submitter ⚠
p.Ile1973Thr Single submitter ⚠
p.Ile1990Val Single submitter ⚠
p.Ile2044Val Single submitter ⚠
p.Ile2137Val Single submitter ⚠
p.Ile2194Leu Single submitter ⚠
p.Ile2219Val Single submitter ⚠
p.Ile221Val Single submitter ⚠
p.Ile224Phe Single submitter ⚠
p.Ile2309Phe Single submitter ⚠
p.Ile2411Val Single submitter ⚠
p.Ile2472Val Single submitter ⚠
p.Ile289Val Single submitter ⚠
p.Ile301Val Single submitter
p.Ile369Val Single submitter ⚠
p.Ile371Val Single submitter ⚠
p.Ile501Thr Single submitter
p.Ile586Leu Single submitter ⚠
p.Ile64Val Single submitter ⚠
p.Ile690Met Single submitter ⚠
p.Ile690Val Single submitter ⚠
p.Ile807Thr Single submitter ⚠
p.Ile834Val Single submitter ⚠
p.Ile837Leu Single submitter ⚠
p.Ile892Met Single submitter ⚠
p.Ile918Val Single submitter ⚠
p.Leu1150His Single submitter ⚠
p.Leu1240Trp Single submitter ⚠
p.Leu1456Ser Single submitter ⚠
p.Leu1529Ile Single submitter ⚠
p.Leu1667Val Single submitter ⚠
p.Leu1877Ser Single submitter ⚠
p.Leu191Ser Single submitter ⚠
p.Leu1999Gln Single submitter ⚠
p.Leu2174Val Single submitter ⚠
p.Leu2417Val Single submitter ⚠
p.Leu274Phe Single submitter ⚠
p.Leu274Val Single submitter
p.Leu453Arg Single submitter
p.Leu797Arg Single submitter ⚠
p.Leu806Val Single submitter ⚠
p.Leu847Met Single submitter ⚠
p.Leu864Ser Single submitter ⚠
p.Lys1117Arg Single submitter ⚠
p.Lys1174Glu Single submitter ⚠
p.Lys1258Glu Single submitter ⚠
p.Lys1279Glu Single submitter ⚠
p.Lys1285Thr Single submitter ⚠
p.Lys1303Asn Single submitter ⚠
p.Lys1312Glu Single submitter ⚠
p.Lys1445Gln Single submitter ⚠
p.Lys1459Arg Single submitter ⚠
p.Lys1512Asn Single submitter ⚠
p.Lys1685Asn Single submitter ⚠
p.Lys1750Asn Single submitter ⚠
p.Lys186Glu Single submitter
p.Lys2017Arg Single submitter ⚠
p.Lys2047Glu Single submitter ⚠
p.Lys244Glu Single submitter ⚠
p.Lys547Glu Single submitter ⚠
p.Lys557Glu Single submitter ⚠
p.Lys58Arg Single submitter ⚠
p.Lys737Asn Single submitter ⚠
p.Lys791Glu Single submitter
p.Lys876Glu Single submitter ⚠
p.Met1082Val Single submitter ⚠
p.Met1350Thr Single submitter ⚠
p.Met1841Val Single submitter ⚠
p.Met1847Ile Single submitter ⚠
p.Met2024Ile Single submitter ⚠
p.Met2105Ile Single submitter ⚠
p.Met288Ile Single submitter ⚠
p.Met288Thr Single submitter ⚠
p.Met393Val Single submitter ⚠
p.Met574Val Single submitter
p.Phe1195Val Single submitter ⚠
p.Phe1235Leu Single submitter ⚠
p.Phe1927Ser Single submitter ⚠
p.Phe2066Cys Single submitter ⚠
p.Phe447Leu Single submitter ⚠
p.Phe447Val Single submitter ⚠
p.Phe747Ser Single submitter ⚠
p.Pro1112Ala Single submitter ⚠
p.Pro11Arg Single submitter ⚠
p.Pro11Gln Single submitter ⚠
p.Pro1214Arg Single submitter ⚠
p.Pro1239Ala Single submitter ⚠
p.Pro1239Leu Single submitter ⚠
p.Pro1304Ser Single submitter ⚠
p.Pro1390Leu Single submitter ⚠
p.Pro1464Arg Single submitter ⚠
p.Pro1770Ala Single submitter ⚠
p.Pro1773Leu Single submitter ⚠
p.Pro2375Ala Single submitter ⚠
p.Pro407Leu Single submitter ⚠
p.Pro459Thr Single submitter ⚠
p.Pro463Arg Single submitter ⚠
p.Pro463Leu Single submitter ⚠
p.Pro54Ala Single submitter ⚠
p.Pro54Ser Single submitter ⚠
p.Pro567Ala Single submitter ⚠
p.Pro796Ser Single submitter ⚠
p.Ser1098Arg Single submitter ⚠
p.Ser1168Gly Single submitter ⚠
p.Ser1194Tyr Single submitter ⚠
p.Ser1199Asn Single submitter ⚠
p.Ser1348Cys Single submitter ⚠
p.Ser139Asn Single submitter ⚠
p.Ser1417Phe Single submitter ⚠
p.Ser1454Cys Single submitter ⚠
p.Ser1548Thr Single submitter ⚠
p.Ser1556Arg Single submitter ⚠
p.Ser1557Leu Single submitter ⚠
p.Ser1608Cys Single submitter ⚠
p.Ser1688Cys Single submitter ⚠
p.Ser1693Gly Single submitter ⚠
p.Ser1697Pro Single submitter ⚠
p.Ser1697Tyr Single submitter ⚠
p.Ser1826Thr Single submitter ⚠
p.Ser1854Leu Single submitter ⚠
p.Ser1869Leu Single submitter ⚠
p.Ser1976Phe Single submitter ⚠
p.Ser2010Leu Single submitter ⚠
p.Ser20Phe Single submitter ⚠
p.Ser2189Thr Single submitter ⚠
p.Ser2352Cys Single submitter ⚠
p.Ser402Pro Single submitter ⚠
p.Ser416Leu Single submitter ⚠
p.Ser467Asn Single submitter ⚠
p.Ser515Ala Single submitter ⚠
p.Ser650Asn Single submitter ⚠
p.Ser69Leu Single submitter ⚠
p.Ser748Phe Single submitter ⚠
p.Ser840Cys Single submitter ⚠
p.Ser846Cys Single submitter ⚠
p.Ser906Arg Single submitter ⚠
p.Ser93Ala Single submitter ⚠
p.Ser979Asn Single submitter ⚠
p.Thr1210Ala Single submitter ⚠
p.Thr1215Ala Single submitter ⚠
p.Thr1223Pro Single submitter ⚠
p.Thr1246Ile Single submitter ⚠
p.Thr1248Ile Single submitter ⚠
p.Thr1271Ser Single submitter ⚠
p.Thr1284Asn Single submitter ⚠
p.Thr1538Ala Single submitter ⚠
p.Thr1607Ala Single submitter ⚠
p.Thr1665Ala Single submitter ⚠
p.Thr1665Ile Single submitter ⚠
p.Thr1712Asn Single submitter ⚠
p.Thr1715Ala Single submitter ⚠
p.Thr1898Ile Single submitter ⚠
p.Thr2033Ser Single submitter ⚠
p.Thr2046Ala Single submitter ⚠
p.Thr2089fs Single submitter
p.Thr2167Ile Single submitter ⚠
p.Thr231Ile Single submitter