CHTF18 — 328 ClinVar variants

All ClinVar germline CHTF18 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 298 flagged for review →

12 Benign · 23 Likely benign · 293 Uncertain significance

Full CHTF18 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 298

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 147

ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.

Predictors split 151

The independent predictors disagree with each other — read with care. · showing the 150 best-reviewed of 151

All CHTF18 variants

Benign 12

p.Ala770= Multiple submitters
p.Arg804Cys Multiple submitters ⚠
p.Asn820= Multiple submitters
p.Asp284Glu Multiple submitters
p.Glu233Lys Multiple submitters ⚠
p.His179= Multiple submitters
p.Leu541= Multiple submitters
p.Leu797= Multiple submitters
p.Lys324= Multiple submitters
p.Pro699= Multiple submitters
p.Ser254Pro Multiple submitters
c.2792-4G>A Single submitter

Likely benign 23

c.895-4G>T Single submitter
p.Ala45Val Single submitter
p.Ala609Thr Single submitter
p.Ala639Thr Single submitter
p.Ala668Thr Single submitter
p.Arg570Gln Single submitter
p.Arg576His Single submitter
p.Arg58Gly Single submitter
p.Arg942Trp Single submitter ⚠
p.Arg98Lys Single submitter ⚠
p.Cys9Tyr Single submitter
p.His250Arg Single submitter
p.His290Arg Single submitter
p.Met197Val Single submitter
p.Pro122Leu Single submitter
p.Pro123= Single submitter
p.Pro270Leu Single submitter
p.Pro341Ser Single submitter
p.Pro365= Single submitter
p.Pro49Arg Single submitter
p.Ser394= Single submitter
p.Val178Ile Single submitter
p.Val208Ile Single submitter ⚠

Uncertain significance 293

p.Ala150Pro Single submitter ⚠
p.Ala188Ser Single submitter ⚠
p.Ala224Pro Single submitter ⚠
p.Ala224Thr Single submitter ⚠
p.Ala259Val Single submitter ⚠
p.Ala265Pro Single submitter ⚠
p.Ala265Val Single submitter ⚠
p.Ala27Val Single submitter ⚠
p.Ala357Thr Single submitter ⚠
p.Ala391Thr Single submitter ⚠
p.Ala400Thr Single submitter ⚠
p.Ala415Val Single submitter ⚠
p.Ala57Val Single submitter ⚠
p.Ala612Val Single submitter ⚠
p.Ala628Thr Single submitter ⚠
p.Ala640Val Single submitter ⚠
p.Ala704Val Single submitter ⚠
p.Ala710Val Single submitter ⚠
p.Ala745Val Single submitter ⚠
p.Ala761Ser Single submitter ⚠
p.Ala790Thr Single submitter ⚠
p.Ala790Val Single submitter ⚠
p.Ala798Thr Single submitter ⚠
p.Ala798Val Single submitter ⚠
p.Ala845Thr Single submitter ⚠
p.Ala856Val Single submitter ⚠
p.Ala858Val Single submitter ⚠
p.Ala926Thr Single submitter ⚠
p.Ala930Thr Single submitter ⚠
p.Ala964Thr Single submitter ⚠
p.Arg158Gly Single submitter ⚠
p.Arg170Trp Single submitter ⚠
p.Arg193Cys Single submitter ⚠
p.Arg193His Single submitter ⚠
p.Arg234Trp Single submitter ⚠
p.Arg235Trp Single submitter ⚠
p.Arg323Gly Single submitter ⚠
p.Arg333Trp Single submitter ⚠
p.Arg389His Single submitter ⚠
p.Arg404Cys Single submitter ⚠
p.Arg410His Single submitter ⚠
p.Arg410Ser Single submitter ⚠
p.Arg454His Single submitter ⚠
p.Arg454Leu Single submitter ⚠
p.Arg473Gln Single submitter ⚠
p.Arg474Trp Single submitter ⚠
p.Arg475Cys Single submitter ⚠
p.Arg476Gln Single submitter ⚠
p.Arg499Trp Single submitter ⚠
p.Arg521Trp Single submitter ⚠
p.Arg550Gly Single submitter ⚠
p.Arg562Gln Single submitter ⚠
p.Arg565Trp Single submitter ⚠
p.Arg576Leu Single submitter ⚠
p.Arg583Cys Single submitter ⚠
p.Arg598Gly Single submitter ⚠
p.Arg602Cys Single submitter ⚠
p.Arg603His Single submitter ⚠
p.Arg634Cys Single submitter ⚠
p.Arg634Pro Single submitter ⚠
p.Arg658Cys Single submitter ⚠
p.Arg658Leu Single submitter ⚠
p.Arg660Trp Single submitter ⚠
p.Arg662Gln Single submitter ⚠
p.Arg729Gln Single submitter ⚠
p.Arg774His Single submitter ⚠
p.Arg784Cys Single submitter ⚠
p.Arg784Gly Single submitter ⚠
p.Arg784Pro Single submitter ⚠
p.Arg807Cys Single submitter ⚠
p.Arg826His Single submitter ⚠
p.Arg833Cys Single submitter ⚠
p.Arg846His Single submitter ⚠
p.Arg861Trp Single submitter ⚠
p.Arg889Gln Single submitter ⚠
p.Arg893Cys Single submitter ⚠
p.Arg898Gln Single submitter ⚠
p.Arg898Trp Single submitter ⚠
p.Arg908Gln Single submitter ⚠
p.Arg919Leu Single submitter ⚠
p.Arg919Pro Single submitter ⚠
p.Arg942Gln Single submitter ⚠
p.Arg943Cys Single submitter ⚠
p.Arg956Cys Single submitter ⚠
p.Arg966Trp Single submitter ⚠
p.Arg967Cys Single submitter ⚠
p.Arg967His Single submitter ⚠
p.Arg972Gly Single submitter ⚠
p.Asn301Ser Single submitter ⚠
p.Asn491Ser Single submitter ⚠
p.Asn547Asp Single submitter ⚠
p.Asn735Asp Single submitter ⚠
p.Asn735Ser Single submitter ⚠
p.Asp129Ala Single submitter ⚠
p.Asp153Glu Single submitter ⚠
p.Asp153Gly Single submitter ⚠
p.Asp176Glu Single submitter ⚠
p.Asp3Asn Single submitter ⚠
p.Asp492Glu Single submitter ⚠
p.Asp607Asn Single submitter ⚠
p.Asp621His Single submitter ⚠
p.Asp679His Single submitter ⚠
p.Asp760Asn Single submitter ⚠
p.Asp810Glu Single submitter ⚠
p.Asp869Asn Single submitter ⚠
p.Asp915Asn Single submitter ⚠
p.Asp938Tyr Single submitter ⚠
p.Cys303Phe Single submitter ⚠
p.Cys303Tyr Single submitter ⚠
p.Gln418Arg Single submitter ⚠
p.Gln606Arg Single submitter ⚠
p.Gln630Arg Single submitter ⚠
p.Gln690Glu Single submitter ⚠
p.Gln693Arg Single submitter ⚠
p.Gln723Leu Single submitter ⚠
p.Gln724Arg Single submitter ⚠
p.Gln724Glu Single submitter ⚠
p.Gln755Arg Single submitter ⚠
p.Gln788His Single submitter ⚠
p.Gln812Arg Single submitter ⚠
p.Gln842Pro Single submitter ⚠
p.Gln897Arg Single submitter ⚠
p.Glu116Asp Single submitter ⚠
p.Glu119Lys Single submitter ⚠
p.Glu22Lys Single submitter ⚠
p.Glu236Lys Single submitter ⚠
p.Glu241Asp Single submitter ⚠
p.Glu256Gly Single submitter ⚠
p.Glu436Val Single submitter ⚠
p.Glu459Gly Single submitter ⚠
p.Glu478Asp Single submitter ⚠
p.Glu592Lys Single submitter ⚠
p.Glu7Ala Single submitter ⚠
p.Glu806Lys Single submitter ⚠
p.Glu847Lys Single submitter ⚠
p.Glu876Lys Single submitter ⚠
p.Glu884Lys Single submitter ⚠
p.Glu936Gln Single submitter ⚠
p.Glu952Lys Single submitter ⚠
p.Glu959Lys Single submitter ⚠
p.Gly185Ser Single submitter ⚠
p.Gly213Ser Single submitter ⚠
p.Gly214Ser Single submitter ⚠
p.Gly220Ala Single submitter ⚠
p.Gly31Ala Single submitter ⚠
p.Gly31Glu Single submitter ⚠
p.Gly39Glu Single submitter ⚠
p.Gly424Cys Single submitter ⚠
p.Gly426Ala Single submitter ⚠
p.Gly427Arg Single submitter ⚠
p.Gly456Ala Single submitter ⚠
p.Gly479Ala Single submitter ⚠
p.Gly479Arg Single submitter ⚠
p.Gly480Trp Single submitter ⚠
p.Gly563Asp Single submitter ⚠
p.Gly578Asp Single submitter ⚠
p.Gly605Asp Single submitter ⚠
p.Gly72Asp Single submitter ⚠
p.Gly880Glu Single submitter ⚠
p.Gly91Ala Single submitter ⚠
p.His16Asn Single submitter ⚠
p.His179Arg Single submitter ⚠
p.His637Arg Single submitter ⚠
p.His637Leu Single submitter ⚠
p.His645Pro Single submitter ⚠
p.His687Arg Single submitter ⚠
p.His687Tyr Single submitter ⚠
p.His888Pro Single submitter ⚠
p.His895Arg Single submitter ⚠
p.His95Gln Single submitter ⚠
p.Ile130Leu Single submitter ⚠
p.Ile173Thr Single submitter ⚠
p.Ile451Val Single submitter ⚠
p.Ile487Val Single submitter ⚠
p.Ile489Val Single submitter ⚠
p.Ile971Leu Single submitter ⚠
p.Leu174Ser Single submitter ⚠
p.Leu205Val Single submitter ⚠
p.Leu216Arg Single submitter ⚠
p.Leu308Val Single submitter ⚠
p.Leu310Val Single submitter ⚠
p.Leu355Pro Single submitter ⚠
p.Leu355Val Single submitter ⚠
p.Leu378Arg Single submitter ⚠
p.Leu482Phe Single submitter ⚠
p.Leu527Val Single submitter ⚠
p.Leu541Phe Single submitter ⚠
p.Leu56Phe Single submitter ⚠
p.Leu586Phe Single submitter ⚠
p.Leu676Arg Single submitter ⚠
p.Leu708Pro Single submitter ⚠
p.Leu757Val Single submitter ⚠
p.Leu762Phe Single submitter ⚠
p.Leu769Phe Single submitter ⚠
p.Leu875Phe Single submitter ⚠
p.Leu974Ser Single submitter ⚠
p.Lys244Glu Single submitter ⚠
p.Lys841Arg Single submitter ⚠
p.Met117Leu Single submitter ⚠
p.Met197Ile Single submitter ⚠
p.Met398Val Single submitter ⚠
p.Phe15Ile Single submitter ⚠
p.Phe15Leu Single submitter ⚠
p.Phe653Leu Single submitter ⚠
p.Phe656Cys Single submitter ⚠
p.Phe678Leu Single submitter ⚠
p.Phe916Tyr Single submitter ⚠
p.Phe917Ser Single submitter ⚠
p.Pro134Ala Single submitter ⚠
p.Pro136Ser Single submitter ⚠
p.Pro166Ala Single submitter ⚠
p.Pro171Ser Single submitter ⚠
p.Pro196Ser Single submitter ⚠
p.Pro199Arg Single submitter ⚠
p.Pro199Leu Single submitter ⚠
p.Pro262Leu Single submitter ⚠
p.Pro266Ser Single submitter ⚠
p.Pro266Thr Single submitter ⚠
p.Pro270Ser Single submitter ⚠
p.Pro288Ala Single submitter ⚠
p.Pro288Leu Single submitter ⚠
p.Pro327Ser Single submitter ⚠
p.Pro365Leu Single submitter ⚠
p.Pro37Ser Single submitter ⚠
p.Pro441Ala Single submitter ⚠
p.Pro465Arg Single submitter ⚠
p.Pro465Leu Single submitter ⚠
p.Pro48Thr Single submitter ⚠
p.Pro611Arg Single submitter ⚠
p.Pro611His Single submitter ⚠
p.Pro65Ala Single submitter ⚠
p.Pro67Leu Single submitter ⚠
p.Pro699Ser Single submitter ⚠
p.Pro715Ser Single submitter ⚠
p.Pro720Ser Single submitter ⚠
p.Pro746Leu Single submitter ⚠
p.Pro819Thr Single submitter ⚠
p.Pro835Leu Single submitter ⚠
p.Pro866Leu Single submitter ⚠
p.Pro873Leu Single submitter ⚠
p.Pro89Ser Single submitter ⚠
p.Pro935Leu Single submitter ⚠
p.Ser114Leu Single submitter ⚠
p.Ser135Gly Single submitter ⚠
p.Ser222Phe Single submitter ⚠
p.Ser225Tyr Single submitter ⚠
p.Ser254Leu Single submitter ⚠
p.Ser328Asn Single submitter ⚠
p.Ser38Pro Single submitter ⚠
p.Ser394Phe Single submitter ⚠
p.Ser405Gly Single submitter ⚠
p.Ser450Asn Single submitter ⚠
p.Ser526Thr Single submitter ⚠
p.Ser588Leu Single submitter ⚠
p.Ser624Phe Single submitter ⚠
p.Ser64Gly Single submitter ⚠
p.Ser665Arg Single submitter ⚠
p.Ser70Phe Single submitter ⚠
p.Ser712Arg Single submitter ⚠
p.Ser865Ile Single submitter ⚠
p.Thr248Pro Single submitter ⚠
p.Thr292Met Single submitter ⚠
p.Thr44Asn Single submitter ⚠
p.Thr555Ile Single submitter ⚠
p.Thr626Ile Single submitter ⚠
p.Thr739Met Single submitter ⚠
p.Thr748Met Single submitter ⚠
p.Thr753Met Single submitter ⚠
p.Thr795Met Single submitter ⚠
p.Thr837Ala Single submitter ⚠
p.Thr933Met Single submitter ⚠
p.Trp210Arg Single submitter ⚠
p.Trp282Gly Single submitter ⚠
p.Trp954Ser Single submitter ⚠
p.Tyr177Cys Single submitter ⚠
p.Tyr393Cys Single submitter ⚠
p.Val106Met Single submitter ⚠
p.Val154Ala Single submitter ⚠
p.Val154Leu Single submitter ⚠
p.Val180Met Single submitter ⚠
p.Val201Leu Single submitter ⚠
p.Val386Met Single submitter ⚠
p.Val40Phe Single submitter ⚠
p.Val442Met Single submitter ⚠
p.Val537Glu Single submitter ⚠
p.Val569Met Single submitter ⚠
p.Val572Leu Single submitter ⚠
p.Val593Ile Single submitter ⚠
p.Val648Leu Single submitter ⚠
p.Val821Met Single submitter ⚠
p.Val868Gly Single submitter ⚠
p.Val965Leu Single submitter ⚠
p.Val965Met Single submitter ⚠