TRMT5 — 253 ClinVar variants
All ClinVar germline TRMT5 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 122 flagged for review →
1 Pathogenic · 2 Likely pathogenic · 8 Conflicting · 9 Benign · 7 Benign/Likely benign · 83 Likely benign · 143 Uncertain significance
Full TRMT5 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 122
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 6
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
-
TRMT5 p.Glu294Ala
Conflicting
Single submitter
combined oxidative phosphorylation defect type 26
-
TRMT5 p.Ile222Thr
Conflicting
Single submitter
combined oxidative phosphorylation defect type 26
-
TRMT5 p.Ile24Val
Conflicting
Single submitter
combined oxidative phosphorylation defect type 26
-
TRMT5 p.Met139Leu
Conflicting
Single submitter
Inborn genetic diseases
-
TRMT5 p.Pro487Ser
Conflicting
Single submitter
Inborn genetic diseases
-
TRMT5 p.Thr494Met
Conflicting
Single submitter
intellectual disability
Predictors lean, ClinVar uncertain 93
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
-
TRMT5 p.Ala188Asp
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
TRMT5 p.Ala45Thr
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
TRMT5 p.Ala45Val
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
TRMT5 p.Arg120Cys
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
TRMT5 p.Arg125His
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
TRMT5 p.Arg15Thr
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
TRMT5 p.Arg266Gln
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
TRMT5 p.His179Asp
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
TRMT5 p.Ile127Thr
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
TRMT5 p.Ile206Val
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
TRMT5 p.Leu156Val
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
TRMT5 p.Met110Val
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
TRMT5 p.Phe57Leu
Uncertain significance
Multiple submitters
combined oxidative phosphorylation defect type 26
-
TRMT5 p.Pro311Ser
Uncertain significance
Multiple submitters
combined oxidative phosphorylation defect type 26
-
TRMT5 p.Pro380Ser
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
TRMT5 p.Pro9Ser
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
TRMT5 p.Ser471Phe
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
TRMT5 p.Val33Ile
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
TRMT5 p.Ala117Thr
Uncertain significance
Single submitter
Inborn genetic diseases
- TRMT5 p.Ala154Gly Uncertain significance Single submitter
- TRMT5 p.Ala428Thr Uncertain significance Single submitter
- TRMT5 p.Ala435Val Uncertain significance Single submitter
- TRMT5 p.Ala437Thr Uncertain significance Single submitter
- TRMT5 p.Ala445Thr Uncertain significance Single submitter
-
TRMT5 p.Ala445Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
TRMT5 p.Arg15Lys
Uncertain significance
Single submitter
Inborn genetic diseases
- TRMT5 p.Arg212Pro Uncertain significance Single submitter
- TRMT5 p.Arg248Leu Uncertain significance Single submitter
- TRMT5 p.Arg432Gln Uncertain significance Single submitter
- TRMT5 p.Asn172Tyr Uncertain significance Single submitter
- TRMT5 p.Asn245Ser Uncertain significance Single submitter
-
TRMT5 p.Asp195Gly
Uncertain significance
Single submitter
Inborn genetic diseases
-
TRMT5 p.Asp355Gly
Uncertain significance
Single submitter
Inborn genetic diseases
- TRMT5 p.Asp430Ala Uncertain significance Single submitter
- TRMT5 p.Asp486Tyr Uncertain significance Single submitter
-
TRMT5 p.Asp486Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
TRMT5 p.Cys321Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
TRMT5 p.Gln119Arg
Uncertain significance
Single submitter
Inborn genetic diseases
- TRMT5 p.Gln167His Uncertain significance Single submitter
-
TRMT5 p.Gln361Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
TRMT5 p.Gln370Glu
Uncertain significance
Single submitter
Inborn genetic diseases
- TRMT5 p.Gln433His Uncertain significance Single submitter
-
TRMT5 p.Gln53Arg
Uncertain significance
Single submitter
Inborn genetic diseases
- TRMT5 p.Gln53Glu Uncertain significance Single submitter
- TRMT5 p.Glu104Gly Uncertain significance Single submitter
-
TRMT5 p.Glu131Val
Uncertain significance
Single submitter
Inborn genetic diseases
- TRMT5 p.Glu178Asp Uncertain significance Single submitter
- TRMT5 p.Glu184Lys Uncertain significance Single submitter
- TRMT5 p.Glu444Lys Uncertain significance Single submitter
- TRMT5 p.Glu64Gly Uncertain significance Single submitter
- TRMT5 p.Glu69Asp Uncertain significance Single submitter
-
TRMT5 p.Gly204Val
Uncertain significance
Single submitter
Inborn genetic diseases
- TRMT5 p.Gly223Cys Uncertain significance Single submitter
- TRMT5 p.Gly356Arg Uncertain significance Single submitter
-
TRMT5 p.Gly52Ala
Uncertain significance
Single submitter
Inborn genetic diseases
-
TRMT5 p.His205Arg
Uncertain significance
Single submitter
Inborn genetic diseases
- TRMT5 p.His220Tyr Uncertain significance Single submitter
-
TRMT5 p.His66Gln
Uncertain significance
Single submitter
Inborn genetic diseases
- TRMT5 p.Ile206Thr Uncertain significance Single submitter
- TRMT5 p.Ile393Val Uncertain significance Single submitter
-
TRMT5 p.Ile415Thr
Uncertain significance
Single submitter
Inborn genetic diseases
- TRMT5 p.Ile415Val Uncertain significance Single submitter
- TRMT5 p.Leu473Phe Uncertain significance Single submitter
- TRMT5 p.Lys391Glu Uncertain significance Single submitter
-
TRMT5 p.Met246Val
Uncertain significance
Single submitter
Inborn genetic diseases
- TRMT5 p.Met252Thr Uncertain significance Single submitter
-
TRMT5 p.Met41Ile
Uncertain significance
Single submitter
Inborn genetic diseases
- TRMT5 p.Met41Val Uncertain significance Single submitter
-
TRMT5 p.Phe274Cys
Uncertain significance
Single submitter
Inborn genetic diseases
- TRMT5 p.Phe352Leu Uncertain significance Single submitter
-
TRMT5 p.Pro166Leu
Uncertain significance
Single submitter
Inborn genetic diseases
- TRMT5 p.Pro414His Uncertain significance Single submitter
-
TRMT5 p.Pro481Ala
Uncertain significance
Single submitter
Inborn genetic diseases
- TRMT5 p.Pro481Arg Uncertain significance Single submitter
- TRMT5 p.Pro488Ser Uncertain significance Single submitter
- TRMT5 p.Ser37Phe Uncertain significance Single submitter
-
TRMT5 p.Ser397Gly
Uncertain significance
Single submitter
Inborn genetic diseases
- TRMT5 p.Thr293Lys Uncertain significance Single submitter
- TRMT5 p.Thr36Ile Uncertain significance Single submitter
- TRMT5 p.Thr509Ala Uncertain significance Single submitter
-
TRMT5 p.Trp35Gly
Uncertain significance
Single submitter
Inborn genetic diseases
-
TRMT5 p.Tyr247Cys
Uncertain significance
Single submitter
Inborn genetic diseases
- TRMT5 p.Tyr474Ser Uncertain significance Single submitter
-
TRMT5 p.Val106Ile
Uncertain significance
Single submitter
Inborn genetic diseases
-
TRMT5 p.Val196Ile
Uncertain significance
Single submitter
Inborn genetic diseases
- TRMT5 p.Val301Ile Uncertain significance Single submitter
- TRMT5 p.Val316Leu Uncertain significance Single submitter
- TRMT5 p.Val416Ala Uncertain significance Single submitter
-
TRMT5 p.Val438Ala
Uncertain significance
Single submitter
Inborn genetic diseases
- TRMT5 p.Val79Ile Uncertain significance Single submitter
-
TRMT5 p.Asp355Tyr
Uncertain significance
No assertion criteria
TRMT5-related disorder
-
TRMT5 p.Gln406His
Uncertain significance
No assertion criteria
combined oxidative phosphorylation defect type 26
-
TRMT5 p.Val265Phe
Uncertain significance
No assertion criteria
combined oxidative phosphorylation defect type 26
Predictors split 23
The independent predictors disagree with each other — read with care.
-
TRMT5 p.Arg291His
Uncertain significance
Multiple submitters
combined oxidative phosphorylation defect type 26
-
TRMT5 p.Met261Val
Uncertain significance
Multiple submitters
Inborn genetic diseases
- TRMT5 p.Ala398Thr Likely benign Single submitter
-
TRMT5 p.Arg136Gly
Uncertain significance
Single submitter
Inborn genetic diseases
- TRMT5 p.Arg212Gln Likely benign Single submitter
-
TRMT5 p.Arg432Trp
Uncertain significance
Single submitter
Inborn genetic diseases
-
TRMT5 p.Asp132Val
Uncertain significance
Single submitter
Inborn genetic diseases
- TRMT5 p.Asp149Val Uncertain significance Single submitter
-
TRMT5 p.Glu394Gln
Uncertain significance
Single submitter
Inborn genetic diseases
- TRMT5 p.His214Arg Uncertain significance Single submitter
-
TRMT5 p.His214Tyr
Uncertain significance
Single submitter
Inborn genetic diseases
- TRMT5 p.Ile243Thr Uncertain significance Single submitter
- TRMT5 p.Lys100Glu Uncertain significance Single submitter
-
TRMT5 p.Lys103Ile
Uncertain significance
Single submitter
Inborn genetic diseases
-
TRMT5 p.Lys229Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
TRMT5 p.Lys341Asn
Uncertain significance
Single submitter
Inborn genetic diseases
-
TRMT5 p.Met82Ile
Uncertain significance
Single submitter
Inborn genetic diseases
-
TRMT5 p.Phe180Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
TRMT5 p.Pro363Leu
Uncertain significance
Single submitter
Inborn genetic diseases
- TRMT5 p.Pro380Thr Uncertain significance Single submitter
- TRMT5 p.Ser150Phe Uncertain significance Single submitter
-
TRMT5 p.Ser397Arg
Uncertain significance
Single submitter
Inborn genetic diseases
- TRMT5 p.Val279Leu Uncertain significance Single submitter
All TRMT5 variants
Pathogenic 1
- p.Met386Val No assertion criteria combined oxidative phosphorylation defect type 26
Likely pathogenic 2
- p.Ala89_Phe90insTer Single submitter combined oxidative phosphorylation defect type 26
- p.Arg87Ter Single submitter combined oxidative phosphorylation defect type 26
Conflicting classifications of pathogenicity 8
- p.Glu294Ala Single submitter combined oxidative phosphorylation defect type 26 ⚠
- p.Ile105fs Single submitter combined oxidative phosphorylation defect type 26
- p.Ile222Thr Single submitter combined oxidative phosphorylation defect type 26 ⚠
- p.Ile24Val Single submitter combined oxidative phosphorylation defect type 26 ⚠
- p.Met139Leu Single submitter Inborn genetic diseases ⚠
- p.Pro487Ser Single submitter Inborn genetic diseases ⚠
- p.Ser107fs Single submitter combined oxidative phosphorylation defect type 26
- p.Thr494Met Single submitter intellectual disability ⚠
Benign 9
- c.11+19T>G Multiple submitters
- c.11+208T>C Multiple submitters
- p.Glu367Gln Multiple submitters
- p.Pro217= Multiple submitters
- p.Pro487= Multiple submitters
- c.793-4del Single submitter
- c.793-4dup Single submitter
- p.Ser409Arg Single submitter
- p.Tyr280= Single submitter
Benign/Likely benign 7
- c.12-21dup Multiple submitters
- c.12-4del Multiple submitters
- c.667+4C>G Multiple submitters
- p.His179Asn Multiple submitters
- p.Ser157Cys Multiple submitters
- p.Ser74= Multiple submitters
- p.Ser77= Multiple submitters
Likely benign 83
- p.Ala428Val Multiple submitters
- p.Asn329= Multiple submitters
- p.Asp500= Multiple submitters
- p.Leu209= Multiple submitters
- p.Val384Ile Multiple submitters Inborn genetic diseases
- c.11+14C>T Single submitter
- c.12-19_12-18insC Single submitter
- c.12-4T>A Single submitter
- c.12-4T>C Single submitter
- c.1445-8T>C Single submitter
- c.667+10T>C Single submitter
- c.667+13_667+14del Single submitter
- c.667+13T>C Single submitter
- c.668-15C>A Single submitter
- c.668-7del Single submitter
- c.668-9T>A Single submitter
- c.792+11T>C Single submitter
- c.792+17C>T Single submitter
- c.792+18C>T Single submitter
- c.792+8_792+12dup Single submitter
- c.792+8T>A Single submitter
- c.793-12A>C Single submitter
- c.793-17A>G Single submitter
- p.Ala236= Single submitter
- p.Ala34= Single submitter
- p.Ala398Thr Single submitter ⚠
- p.Ala445= Single submitter
- p.Ala45= Single submitter
- p.Ala89= Single submitter
- p.Arg102= Single submitter
- p.Arg212Gln Single submitter ⚠
- p.Arg248= Single submitter
- p.Arg434= Single submitter
- p.Arg491= Single submitter
- p.Asp86= Single submitter
- p.Cys321= Single submitter
- p.Gln504= Single submitter
- p.Gln53= Single submitter
- p.Glu258= Single submitter
- p.Glu366= Single submitter
- p.Gly11= Single submitter
- p.Gly232= Single submitter
- p.Gly257= Single submitter
- p.Gly440= Single submitter
- p.His484Tyr Single submitter
- p.Ile292= Single submitter
- p.Leu109= Single submitter
- p.Leu137= Single submitter
- p.Leu156= Single submitter
- p.Leu159= Single submitter
- p.Leu162= Single submitter
- p.Leu255= Single submitter
- p.Leu296= Single submitter
- p.Leu30= Single submitter
- p.Leu72= Single submitter
- p.Lys153= Single submitter
- p.Lys219Arg Single submitter
- p.Lys400= Single submitter
- p.Lys55= Single submitter
- p.Phe10= Single submitter
- p.Pro166= Single submitter
- p.Pro311= Single submitter
- p.Pro330= Single submitter
- p.Ser23= Single submitter
- p.Ser29= Single submitter
- p.Ser37= Single submitter
- p.Ser410= Single submitter
- p.Ser58= Single submitter
- p.Thr25= Single submitter
- p.Thr39= Single submitter
- p.Thr465= Single submitter
- p.Thr494= Single submitter
- p.Thr59= Single submitter
- p.Tyr177= Single submitter
- p.Tyr419= Single submitter
- p.Val305= Single submitter
- p.Val323= Single submitter
- p.Val382= Single submitter
- p.Val449= Single submitter
- p.Val455= Single submitter
- c.11+24G>C No assertion criteria TRMT5-related disorder
- c.11+90G>A No assertion criteria TRMT5-related disorder
- p.Leu473= No assertion criteria TRMT5-related disorder
Uncertain significance 143
- p.Ala188Asp Multiple submitters Inborn genetic diseases ⚠
- p.Ala45Thr Multiple submitters Inborn genetic diseases ⚠
- p.Ala45Val Multiple submitters Inborn genetic diseases ⚠
- p.Arg120Cys Multiple submitters Inborn genetic diseases ⚠
- p.Arg125His Multiple submitters Inborn genetic diseases ⚠
- p.Arg15Thr Multiple submitters Inborn genetic diseases ⚠
- p.Arg266Gln Multiple submitters Inborn genetic diseases ⚠
- p.Arg291His Multiple submitters combined oxidative phosphorylation defect type 26 ⚠
- p.His179Asp Multiple submitters Inborn genetic diseases ⚠
- p.Ile127Thr Multiple submitters Inborn genetic diseases ⚠
- p.Ile206Val Multiple submitters Inborn genetic diseases ⚠
- p.Leu156Val Multiple submitters Inborn genetic diseases ⚠
- p.Met110Val Multiple submitters Inborn genetic diseases ⚠
- p.Met261Val Multiple submitters Inborn genetic diseases ⚠
- p.Phe57Leu Multiple submitters combined oxidative phosphorylation defect type 26 ⚠
- p.Pro142Leu Multiple submitters Inborn genetic diseases
- p.Pro311Ser Multiple submitters combined oxidative phosphorylation defect type 26 ⚠
- p.Pro380Ser Multiple submitters Inborn genetic diseases ⚠
- p.Pro9Ser Multiple submitters Inborn genetic diseases ⚠
- p.Ser471Phe Multiple submitters Inborn genetic diseases ⚠
- p.Thr509= Multiple submitters combined oxidative phosphorylation defect type 26
- p.Val33Ile Multiple submitters Inborn genetic diseases ⚠
- c.11+6del Single submitter
- c.12-3A>T Single submitter
- c.1444+4A>G Single submitter
- c.1445-10T>C Single submitter
- c.1445-3C>G Single submitter
- c.667+4C>T Single submitter
- c.792+6T>C Single submitter
- p.Ala117Thr Single submitter Inborn genetic diseases ⚠
- p.Ala154Gly Single submitter ⚠
- p.Ala428Thr Single submitter ⚠
- p.Ala435Val Single submitter ⚠
- p.Ala437Thr Single submitter ⚠
- p.Ala445Thr Single submitter ⚠
- p.Ala445Val Single submitter Inborn genetic diseases ⚠
- p.Arg136Gly Single submitter Inborn genetic diseases ⚠
- p.Arg15Lys Single submitter Inborn genetic diseases ⚠
- p.Arg212Pro Single submitter ⚠
- p.Arg248Leu Single submitter ⚠
- p.Arg248Ter Single submitter
- p.Arg266Ter Single submitter
- p.Arg432Gln Single submitter ⚠
- p.Arg432Trp Single submitter Inborn genetic diseases ⚠
- p.Asn172Tyr Single submitter ⚠
- p.Asn245Ser Single submitter ⚠
- p.Asp132Val Single submitter Inborn genetic diseases ⚠
- p.Asp149Val Single submitter ⚠
- p.Asp195Gly Single submitter Inborn genetic diseases ⚠
- p.Asp355Gly Single submitter Inborn genetic diseases ⚠
- p.Asp430Ala Single submitter ⚠
- p.Asp486Tyr Single submitter ⚠
- p.Asp486Val Single submitter Inborn genetic diseases ⚠
- p.Cys321Arg Single submitter Inborn genetic diseases ⚠
- p.Gln119Arg Single submitter Inborn genetic diseases ⚠
- p.Gln167His Single submitter ⚠
- p.Gln194Ter Single submitter
- p.Gln361Arg Single submitter Inborn genetic diseases ⚠
- p.Gln370Glu Single submitter Inborn genetic diseases ⚠
- p.Gln40fs Single submitter
- p.Gln433His Single submitter ⚠
- p.Gln53Arg Single submitter Inborn genetic diseases ⚠
- p.Gln53Glu Single submitter ⚠
- p.Glu104Gly Single submitter ⚠
- p.Glu131Val Single submitter Inborn genetic diseases ⚠
- p.Glu134fs Single submitter
- p.Glu178Asp Single submitter ⚠
- p.Glu184Lys Single submitter ⚠
- p.Glu394Gln Single submitter Inborn genetic diseases ⚠
- p.Glu444Lys Single submitter ⚠
- p.Glu64Gly Single submitter ⚠
- p.Glu69Asp Single submitter ⚠
- p.Glu69fs Single submitter
- p.Gly204Val Single submitter Inborn genetic diseases ⚠
- p.Gly223Cys Single submitter ⚠
- p.Gly356Arg Single submitter ⚠
- p.Gly52Ala Single submitter Inborn genetic diseases ⚠
- p.Gly81= Single submitter
- p.His205Arg Single submitter Inborn genetic diseases ⚠
- p.His214Arg Single submitter ⚠
- p.His214Tyr Single submitter Inborn genetic diseases ⚠
- p.His220Tyr Single submitter ⚠
- p.His66Gln Single submitter Inborn genetic diseases ⚠
- p.Ile138del Single submitter
- p.Ile206Thr Single submitter ⚠
- p.Ile243Thr Single submitter ⚠
- p.Ile393Val Single submitter ⚠
- p.Ile415Thr Single submitter Inborn genetic diseases ⚠
- p.Ile415Val Single submitter ⚠
- p.Leu473Phe Single submitter ⚠
- p.Lys100Glu Single submitter ⚠
- p.Lys103Ile Single submitter Inborn genetic diseases ⚠
- p.Lys108_Leu109insAlaGlyArgGlyGlySerArgLeuTer Single submitter
- p.Lys181Ter Single submitter
- p.Lys229Arg Single submitter Inborn genetic diseases ⚠
- p.Lys341Asn Single submitter Inborn genetic diseases ⚠
- p.Lys391Glu Single submitter ⚠
- p.Met246Val Single submitter Inborn genetic diseases ⚠
- p.Met252Thr Single submitter ⚠
- p.Met41Ile Single submitter Inborn genetic diseases ⚠
- p.Met41Val Single submitter ⚠
- p.Met82Ile Single submitter Inborn genetic diseases ⚠
- p.Phe180Leu Single submitter Inborn genetic diseases ⚠
- p.Phe274Cys Single submitter Inborn genetic diseases ⚠
- p.Phe312fs Single submitter
- p.Phe352Leu Single submitter ⚠
- p.Pro166Leu Single submitter Inborn genetic diseases ⚠
- p.Pro283Leu Single submitter
- p.Pro363Leu Single submitter Inborn genetic diseases ⚠
- p.Pro380Thr Single submitter ⚠
- p.Pro414His Single submitter ⚠
- p.Pro414Leu Single submitter Inborn genetic diseases
- p.Pro457Thr Single submitter
- p.Pro481Ala Single submitter Inborn genetic diseases ⚠
- p.Pro481Arg Single submitter ⚠
- p.Pro488Ser Single submitter ⚠
- p.Ser150Phe Single submitter ⚠
- p.Ser37Phe Single submitter ⚠
- p.Ser397Arg Single submitter Inborn genetic diseases ⚠
- p.Ser397Gly Single submitter Inborn genetic diseases ⚠
- p.Thr287Ile Single submitter
- p.Thr293Lys Single submitter ⚠
- p.Thr36Ile Single submitter ⚠
- p.Thr509Ala Single submitter ⚠
- p.Trp335Ter Single submitter
- p.Trp35Gly Single submitter Inborn genetic diseases ⚠
- p.Tyr247Cys Single submitter Inborn genetic diseases ⚠
- p.Tyr474Ser Single submitter ⚠
- p.Val106Ile Single submitter Inborn genetic diseases ⚠
- p.Val164fs Single submitter
- p.Val196Ile Single submitter Inborn genetic diseases ⚠
- p.Val279Leu Single submitter ⚠
- p.Val301Ile Single submitter ⚠
- p.Val316Leu Single submitter ⚠
- p.Val364fs Single submitter
- p.Val384Ala Single submitter Inborn genetic diseases
- p.Val416Ala Single submitter ⚠
- p.Val438Ala Single submitter Inborn genetic diseases ⚠
- p.Val79Ile Single submitter ⚠
- p.Asp355Tyr No assertion criteria TRMT5-related disorder ⚠
- p.Gln406His No assertion criteria combined oxidative phosphorylation defect type 26 ⚠
- p.Phe90fs No assertion criteria
- p.Val265Phe No assertion criteria combined oxidative phosphorylation defect type 26 ⚠