DDX54 — 247 ClinVar variants
All ClinVar germline DDX54 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 203 flagged for review →
3 Likely pathogenic · 2 Conflicting · 9 Benign · 1 Benign/Likely benign · 31 Likely benign · 201 Uncertain significance
Full DDX54 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 203
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 vs ClinVar 3
ClinVar calls these pathogenic, but the computational predictors lean tolerated — the highest-value review flag.
-
DDX54 p.Arg611Gln
Likely pathogenic
No assertion criteria
intellectual disability
-
DDX54 p.Asn216Ser
Likely pathogenic
No assertion criteria
Neurodevelopmental disorders
-
DDX54 p.Trp20Arg
Likely pathogenic
No assertion criteria
Neurodevelopmental disorders
Predictors lean, ClinVar uncertain 154
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 154
- DDX54 p.Gln608His Uncertain significance Multiple submitters
- DDX54 p.Ser71Leu Uncertain significance Multiple submitters
- DDX54 p.Ala148Thr Uncertain significance Single submitter
- DDX54 p.Ala169Ser Uncertain significance Single submitter
- DDX54 p.Ala169Val Uncertain significance Single submitter
- DDX54 p.Ala258Thr Uncertain significance Single submitter
- DDX54 p.Ala266Thr Uncertain significance Single submitter
- DDX54 p.Ala36Thr Uncertain significance Single submitter
- DDX54 p.Ala376Val Uncertain significance Single submitter
- DDX54 p.Ala382Thr Uncertain significance Single submitter
- DDX54 p.Ala430Thr Uncertain significance Single submitter
- DDX54 p.Ala512Thr Uncertain significance Single submitter
- DDX54 p.Ala512Val Uncertain significance Single submitter
- DDX54 p.Ala54Val Uncertain significance Single submitter
- DDX54 p.Ala56Thr Uncertain significance Single submitter
- DDX54 p.Ala573Val Uncertain significance Single submitter
- DDX54 p.Ala580Ser Uncertain significance Single submitter
- DDX54 p.Ala592Thr Uncertain significance Single submitter
- DDX54 p.Ala602Thr Uncertain significance Single submitter
- DDX54 p.Ala711Thr Uncertain significance Single submitter
- DDX54 p.Ala865Ser Uncertain significance Single submitter
- DDX54 p.Ala9Gly Uncertain significance Single submitter
- DDX54 p.Arg12Gln Uncertain significance Single submitter
- DDX54 p.Arg12Pro Uncertain significance Single submitter
- DDX54 p.Arg14Leu Uncertain significance Single submitter
- DDX54 p.Arg14Pro Uncertain significance Single submitter
- DDX54 p.Arg251Trp Uncertain significance Single submitter
- DDX54 p.Arg267His Uncertain significance Single submitter
- DDX54 p.Arg290Gln Uncertain significance Single submitter
- DDX54 p.Arg336Gln Uncertain significance Single submitter
- DDX54 p.Arg377Cys Uncertain significance Single submitter
- DDX54 p.Arg425His Uncertain significance Single submitter
- DDX54 p.Arg434Leu Uncertain significance Single submitter
- DDX54 p.Arg482Gln Uncertain significance Single submitter
- DDX54 p.Arg482Trp Uncertain significance Single submitter
- DDX54 p.Arg521His Uncertain significance Single submitter
- DDX54 p.Arg551Cys Uncertain significance Single submitter
- DDX54 p.Arg551His Uncertain significance Single submitter
- DDX54 p.Arg559Gln Uncertain significance Single submitter
- DDX54 p.Arg570His Uncertain significance Single submitter
- DDX54 p.Arg572Gln Uncertain significance Single submitter
- DDX54 p.Arg591Gly Uncertain significance Single submitter
- DDX54 p.Arg594Trp Uncertain significance Single submitter
- DDX54 p.Arg598Leu Uncertain significance Single submitter
- DDX54 p.Arg603His Uncertain significance Single submitter
- DDX54 p.Arg625Leu Uncertain significance Single submitter
- DDX54 p.Arg657Gln Uncertain significance Single submitter
- DDX54 p.Arg790Gln Uncertain significance Single submitter
- DDX54 p.Arg790Trp Uncertain significance Single submitter
- DDX54 p.Arg791Gln Uncertain significance Single submitter
- DDX54 p.Arg795Pro Uncertain significance Single submitter
- DDX54 p.Arg818Gln Uncertain significance Single submitter
- DDX54 p.Arg82Gln Uncertain significance Single submitter
- DDX54 p.Arg82Trp Uncertain significance Single submitter
- DDX54 p.Arg844His Uncertain significance Single submitter
- DDX54 p.Arg853Gly Uncertain significance Single submitter
- DDX54 p.Arg868Gln Uncertain significance Single submitter
- DDX54 p.Arg86Cys Uncertain significance Single submitter
- DDX54 p.Arg878Gln Uncertain significance Single submitter
- DDX54 p.Arg878Trp Uncertain significance Single submitter
- DDX54 p.Asn722Lys Uncertain significance Single submitter
- DDX54 p.Asp208Glu Uncertain significance Single submitter
- DDX54 p.Asp218Asn Uncertain significance Single submitter
- DDX54 p.Asp304Asn Uncertain significance Single submitter
- DDX54 p.Asp408Gly Uncertain significance Single submitter
- DDX54 p.Asp4Ala Uncertain significance Single submitter
- DDX54 p.Asp4Tyr Uncertain significance Single submitter
- DDX54 p.Asp53Asn Uncertain significance Single submitter
- DDX54 p.Asp677Glu Uncertain significance Single submitter
- DDX54 p.Asp747Gly Uncertain significance Single submitter
- DDX54 p.Asp779Tyr Uncertain significance Single submitter
- DDX54 p.Gln340Leu Uncertain significance Single submitter
- DDX54 p.Gln827His Uncertain significance Single submitter
- DDX54 p.Gln828Arg Uncertain significance Single submitter
- DDX54 p.Gln859Leu Uncertain significance Single submitter
- DDX54 p.Gln862Glu Uncertain significance Single submitter
- DDX54 p.Glu233Lys Uncertain significance Single submitter
- DDX54 p.Glu352Lys Uncertain significance Single submitter
- DDX54 p.Glu636Asp Uncertain significance Single submitter
- DDX54 p.Glu72Lys Uncertain significance Single submitter
- DDX54 p.Glu784Lys Uncertain significance Single submitter
- DDX54 p.Gly10Arg Uncertain significance Single submitter
- DDX54 p.Gly110Asp Uncertain significance Single submitter
- DDX54 p.Gly190Arg Uncertain significance Single submitter
- DDX54 p.Gly202Val Uncertain significance Single submitter
- DDX54 p.Gly225Arg Uncertain significance Single submitter
- DDX54 p.Gly270Arg Uncertain significance Single submitter
- DDX54 p.Gly271Asp Uncertain significance Single submitter
- DDX54 p.Gly271Ser Uncertain significance Single submitter
- DDX54 p.Gly31Ser Uncertain significance Single submitter
- DDX54 p.Gly38Arg Uncertain significance Single submitter
- DDX54 p.Gly44Asp Uncertain significance Single submitter
- DDX54 p.Gly44Ser Uncertain significance Single submitter
- DDX54 p.Gly610Arg Uncertain significance Single submitter
- DDX54 p.Gly617Asp Uncertain significance Single submitter
- DDX54 p.Gly642Glu Uncertain significance Single submitter
- DDX54 p.Gly661Arg Uncertain significance Single submitter
- DDX54 p.Gly699Arg Uncertain significance Single submitter
- DDX54 p.Gly6Asp Uncertain significance Single submitter
- DDX54 p.Gly805Asp Uncertain significance Single submitter
-
DDX54 p.Gly846Val
Uncertain significance
Single submitter
DDX54-related Neurodevelopmental Disorder
- DDX54 p.Gly864Val Uncertain significance Single submitter
- DDX54 p.His840Tyr Uncertain significance Single submitter
- DDX54 p.Ile127Leu Uncertain significance Single submitter
- DDX54 p.Ile682Leu Uncertain significance Single submitter
- DDX54 p.Leu151Phe Uncertain significance Single submitter
- DDX54 p.Leu152Val Uncertain significance Single submitter
- DDX54 p.Leu183Gln Uncertain significance Single submitter
-
DDX54 p.Leu461Val
Uncertain significance
Single submitter
DDX54-related Neurodevelopment Syndrome
- DDX54 p.Leu847Val Uncertain significance Single submitter
- DDX54 p.Lys117Met Uncertain significance Single submitter
- DDX54 p.Lys184Arg Uncertain significance Single submitter
- DDX54 p.Lys312Glu Uncertain significance Single submitter
- DDX54 p.Lys838Arg Uncertain significance Single submitter
- DDX54 p.Lys848Gln Uncertain significance Single submitter
- DDX54 p.Met139Val Uncertain significance Single submitter
- DDX54 p.Met154Ile Uncertain significance Single submitter
- DDX54 p.Met17Val Uncertain significance Single submitter
- DDX54 p.Met206Leu Uncertain significance Single submitter
- DDX54 p.Met537Ile Uncertain significance Single submitter
- DDX54 p.Met877Lys Uncertain significance Single submitter
- DDX54 p.Phe344Ile Uncertain significance Single submitter
- DDX54 p.Pro11Ser Uncertain significance Single submitter
- DDX54 p.Pro128Leu Uncertain significance Single submitter
- DDX54 p.Pro174Leu Uncertain significance Single submitter
- DDX54 p.Pro416Leu Uncertain significance Single submitter
- DDX54 p.Pro623Ser Uncertain significance Single submitter
- DDX54 p.Pro633Ala Uncertain significance Single submitter
- DDX54 p.Pro7Leu Uncertain significance Single submitter
- DDX54 p.Ser493Gly Uncertain significance Single submitter
- DDX54 p.Ser550Leu Uncertain significance Single submitter
- DDX54 p.Ser587Asn Uncertain significance Single submitter
- DDX54 p.Ser644Asn Uncertain significance Single submitter
- DDX54 p.Ser698Thr Uncertain significance Single submitter
- DDX54 p.Ser743Leu Uncertain significance Single submitter
- DDX54 p.Ser760Arg Uncertain significance Single submitter
- DDX54 p.Ser807Thr Uncertain significance Single submitter
-
DDX54 p.Thr142Met
Uncertain significance
Single submitter
DDX54-related disorder
- DDX54 p.Thr182Ile Uncertain significance Single submitter
- DDX54 p.Thr186Ala Uncertain significance Single submitter
- DDX54 p.Thr197Ile Uncertain significance Single submitter
- DDX54 p.Thr294Ala Uncertain significance Single submitter
- DDX54 p.Thr385Met Uncertain significance Single submitter
- DDX54 p.Thr724Met Uncertain significance Single submitter
- DDX54 p.Thr814Asn Uncertain significance Single submitter
- DDX54 p.Tyr519Cys Uncertain significance Single submitter
- DDX54 p.Tyr768His Uncertain significance Single submitter
- DDX54 p.Val297Met Uncertain significance Single submitter
- DDX54 p.Val303Ala Uncertain significance Single submitter
- DDX54 p.Val326Met Uncertain significance Single submitter
Predictors split 46
The independent predictors disagree with each other — read with care.
- DDX54 p.Gly875Asp Uncertain significance Multiple submitters
- DDX54 p.Ala289Val Uncertain significance Single submitter
- DDX54 p.Ala438Thr Uncertain significance Single submitter
- DDX54 p.Arg319Trp Uncertain significance Single submitter
- DDX54 p.Arg336Trp Uncertain significance Single submitter
- DDX54 p.Arg362Trp Uncertain significance Single submitter
- DDX54 p.Arg506Trp Uncertain significance Single submitter
- DDX54 p.Arg510Cys Uncertain significance Single submitter
- DDX54 p.Arg510His Uncertain significance Single submitter
- DDX54 p.Arg521Cys Uncertain significance Single submitter
- DDX54 p.Arg523Cys Uncertain significance Single submitter
- DDX54 p.Arg570Cys Uncertain significance Single submitter
- DDX54 p.Arg591Cys Uncertain significance Single submitter
- DDX54 p.Arg655Trp Uncertain significance Single submitter
- DDX54 p.Arg685Trp Uncertain significance Single submitter
- DDX54 p.Arg727Trp Uncertain significance Single submitter
- DDX54 p.Arg802Cys Uncertain significance Single submitter
- DDX54 p.Arg820Cys Uncertain significance Single submitter
- DDX54 p.Arg834Cys Uncertain significance Single submitter
- DDX54 p.Arg835Trp Uncertain significance Single submitter
- DDX54 p.Arg844Cys Uncertain significance Single submitter
- DDX54 p.Arg857Gly Uncertain significance Single submitter
- DDX54 p.Asp208Gly Uncertain significance Single submitter
- DDX54 p.Glu309Lys Uncertain significance Single submitter
- DDX54 p.Glu754Gly Uncertain significance Single submitter
- DDX54 p.His454Tyr Uncertain significance Single submitter
- DDX54 p.Ile368Phe Uncertain significance Single submitter
- DDX54 p.Lys532Glu Uncertain significance Single submitter
- DDX54 p.Lys772Asn Uncertain significance Single submitter
- DDX54 p.Met101Val Uncertain significance Single submitter
- DDX54 p.Met590Ile Uncertain significance Single submitter
- DDX54 p.Met590Thr Uncertain significance Single submitter
- DDX54 p.Phe680Leu Uncertain significance Single submitter
- DDX54 p.Phe841Leu Uncertain significance Single submitter
- DDX54 p.Ser173Leu Uncertain significance Single submitter
- DDX54 p.Ser39Asn Uncertain significance Single submitter
- DDX54 p.Ser502Leu Uncertain significance Single submitter
- DDX54 p.Ser502Pro Uncertain significance Single submitter
- DDX54 p.Thr274Met Uncertain significance Single submitter
- DDX54 p.Thr359Met Uncertain significance Single submitter
- DDX54 p.Tyr763Cys Uncertain significance Single submitter
- DDX54 p.Val394Met Uncertain significance Single submitter
- DDX54 p.Val410Ile Uncertain significance Single submitter
-
DDX54 p.Leu298Phe
Conflicting
No assertion criteria
Neurodevelopmental disorders
-
DDX54 p.Tyr353Cys
Benign
No assertion criteria
DDX54-related disorder
-
DDX54 p.Val286Met
Conflicting
No assertion criteria
Multiple renal cysts
All DDX54 variants
Likely pathogenic 3
- p.Arg611Gln No assertion criteria intellectual disability ⚠
- p.Asn216Ser No assertion criteria Neurodevelopmental disorders ⚠
- p.Trp20Arg No assertion criteria Neurodevelopmental disorders ⚠
Conflicting classifications of pathogenicity 2
- p.Leu298Phe No assertion criteria Neurodevelopmental disorders ⚠
- p.Val286Met No assertion criteria Multiple renal cysts ⚠
Benign 9
- p.Asp132= Multiple submitters
- c.1939-8_1939-5del No assertion criteria DDX54-related disorder
- p.Ala371= No assertion criteria DDX54-related disorder
- p.Arg693Gln No assertion criteria DDX54-related disorder
- p.Gly6Arg No assertion criteria DDX54-related disorder
- p.Leu381= No assertion criteria DDX54-related disorder
- p.Lys94_Ser95insLys No assertion criteria DDX54-related disorder
- p.Pro821Leu No assertion criteria DDX54-related disorder
- p.Tyr353Cys No assertion criteria DDX54-related disorder ⚠
Benign/Likely benign 1
- c.937-5C>T Multiple submitters
Likely benign 31
- c.175-17C>G Single submitter
- c.1938+16T>A Single submitter
- c.375+18C>T Single submitter
- c.937-20G>A Single submitter
- p.Ala198= Single submitter
- p.Arg655Gln Single submitter
- p.Arg659Gln Single submitter
- p.Arg669Gln Single submitter
- p.Arg674Trp Single submitter
- p.Arg790= Single submitter
- p.Arg808Gln Single submitter
- p.Asp53= Single submitter
- p.Gly701Arg Single submitter
- p.Ile601= Single submitter
- p.Leu317= Single submitter
- p.Leu402= Single submitter
- p.Leu585Pro Single submitter
- p.Leu713= Single submitter
- p.Lys5Arg Single submitter
- p.Lys635Glu Single submitter
- p.Lys91= Single submitter
- p.Phe246= Single submitter
- p.Pro337= Single submitter
- p.Ser550= Single submitter
- p.Ser660= Single submitter
- p.Thr313= Single submitter
- p.Val653Met Single submitter
- p.Arg857His No assertion criteria DDX54-related disorder
- p.Gly803Ser No assertion criteria DDX54-related disorder
- p.Phe576= No assertion criteria DDX54-related disorder
- p.Ser100Phe No assertion criteria DDX54-related disorder
Uncertain significance 201
- p.Gln608His Multiple submitters ⚠
- p.Gly875Asp Multiple submitters ⚠
- p.Ser71Leu Multiple submitters ⚠
- p.Ala148Thr Single submitter ⚠
- p.Ala169Ser Single submitter ⚠
- p.Ala169Val Single submitter ⚠
- p.Ala258Thr Single submitter ⚠
- p.Ala266Thr Single submitter ⚠
- p.Ala289Val Single submitter ⚠
- p.Ala36Thr Single submitter ⚠
- p.Ala376Val Single submitter ⚠
- p.Ala382Thr Single submitter ⚠
- p.Ala430Thr Single submitter ⚠
- p.Ala438Thr Single submitter ⚠
- p.Ala512Thr Single submitter ⚠
- p.Ala512Val Single submitter ⚠
- p.Ala54Val Single submitter ⚠
- p.Ala56Thr Single submitter ⚠
- p.Ala573Val Single submitter ⚠
- p.Ala580Ser Single submitter ⚠
- p.Ala592Thr Single submitter ⚠
- p.Ala602Thr Single submitter ⚠
- p.Ala711Thr Single submitter ⚠
- p.Ala865Ser Single submitter ⚠
- p.Ala9Gly Single submitter ⚠
- p.Arg12Gln Single submitter ⚠
- p.Arg12Pro Single submitter ⚠
- p.Arg14Leu Single submitter ⚠
- p.Arg14Pro Single submitter ⚠
- p.Arg251Trp Single submitter ⚠
- p.Arg267His Single submitter ⚠
- p.Arg290Gln Single submitter ⚠
- p.Arg319Trp Single submitter ⚠
- p.Arg336Gln Single submitter ⚠
- p.Arg336Trp Single submitter ⚠
- p.Arg362Trp Single submitter ⚠
- p.Arg377Cys Single submitter ⚠
- p.Arg425His Single submitter ⚠
- p.Arg434Leu Single submitter ⚠
- p.Arg482Gln Single submitter ⚠
- p.Arg482Trp Single submitter ⚠
- p.Arg506Trp Single submitter ⚠
- p.Arg510Cys Single submitter ⚠
- p.Arg510His Single submitter ⚠
- p.Arg521Cys Single submitter ⚠
- p.Arg521His Single submitter ⚠
- p.Arg523Cys Single submitter ⚠
- p.Arg551Cys Single submitter ⚠
- p.Arg551His Single submitter ⚠
- p.Arg559Gln Single submitter ⚠
- p.Arg570Cys Single submitter ⚠
- p.Arg570His Single submitter ⚠
- p.Arg572Gln Single submitter ⚠
- p.Arg591Cys Single submitter ⚠
- p.Arg591Gly Single submitter ⚠
- p.Arg594Trp Single submitter ⚠
- p.Arg598Leu Single submitter ⚠
- p.Arg603His Single submitter ⚠
- p.Arg625Leu Single submitter ⚠
- p.Arg655Trp Single submitter ⚠
- p.Arg657Gln Single submitter ⚠
- p.Arg685Trp Single submitter ⚠
- p.Arg727Trp Single submitter ⚠
- p.Arg790Gln Single submitter ⚠
- p.Arg790Trp Single submitter ⚠
- p.Arg791Gln Single submitter ⚠
- p.Arg795Pro Single submitter ⚠
- p.Arg802Cys Single submitter ⚠
- p.Arg818Gln Single submitter ⚠
- p.Arg820Cys Single submitter ⚠
- p.Arg82Gln Single submitter ⚠
- p.Arg82Trp Single submitter ⚠
- p.Arg834Cys Single submitter ⚠
- p.Arg835Trp Single submitter ⚠
- p.Arg844Cys Single submitter ⚠
- p.Arg844His Single submitter ⚠
- p.Arg853Gly Single submitter ⚠
- p.Arg857Gly Single submitter ⚠
- p.Arg868Gln Single submitter ⚠
- p.Arg86Cys Single submitter ⚠
- p.Arg878Gln Single submitter ⚠
- p.Arg878Trp Single submitter ⚠
- p.Asn722Lys Single submitter ⚠
- p.Asp208Glu Single submitter ⚠
- p.Asp208Gly Single submitter ⚠
- p.Asp218Asn Single submitter ⚠
- p.Asp304Asn Single submitter ⚠
- p.Asp408Gly Single submitter ⚠
- p.Asp4Ala Single submitter ⚠
- p.Asp4Tyr Single submitter ⚠
- p.Asp53Asn Single submitter ⚠
- p.Asp677Glu Single submitter ⚠
- p.Asp747Gly Single submitter ⚠
- p.Asp779Tyr Single submitter ⚠
- p.Gln340Leu Single submitter ⚠
- p.Gln827His Single submitter ⚠
- p.Gln828Arg Single submitter ⚠
- p.Gln859Leu Single submitter ⚠
- p.Gln862Glu Single submitter ⚠
- p.Glu233Lys Single submitter ⚠
- p.Glu309Lys Single submitter ⚠
- p.Glu352Lys Single submitter ⚠
- p.Glu636Asp Single submitter ⚠
- p.Glu72Lys Single submitter ⚠
- p.Glu754Gly Single submitter ⚠
- p.Glu784Lys Single submitter ⚠
- p.Gly10Arg Single submitter ⚠
- p.Gly110Asp Single submitter ⚠
- p.Gly190Arg Single submitter ⚠
- p.Gly202Val Single submitter ⚠
- p.Gly225Arg Single submitter ⚠
- p.Gly270Arg Single submitter ⚠
- p.Gly271Asp Single submitter ⚠
- p.Gly271Ser Single submitter ⚠
- p.Gly31Ser Single submitter ⚠
- p.Gly38Arg Single submitter ⚠
- p.Gly44Asp Single submitter ⚠
- p.Gly44Ser Single submitter ⚠
- p.Gly610Arg Single submitter ⚠
- p.Gly617Asp Single submitter ⚠
- p.Gly642Glu Single submitter ⚠
- p.Gly661Arg Single submitter ⚠
- p.Gly699Arg Single submitter ⚠
- p.Gly6Asp Single submitter ⚠
- p.Gly805Asp Single submitter ⚠
- p.Gly846Val Single submitter DDX54-related Neurodevelopmental Disorder ⚠
- p.Gly864Val Single submitter ⚠
- p.His454Arg Single submitter DDX54-related disorder
- p.His454Tyr Single submitter ⚠
- p.His545Tyr Single submitter
- p.His840Tyr Single submitter ⚠
- p.Ile127Leu Single submitter ⚠
- p.Ile368Phe Single submitter ⚠
- p.Ile682Leu Single submitter ⚠
- p.Leu151Phe Single submitter ⚠
- p.Leu152Val Single submitter ⚠
- p.Leu183Gln Single submitter ⚠
- p.Leu461Val Single submitter DDX54-related Neurodevelopment Syndrome ⚠
- p.Leu847Val Single submitter ⚠
- p.Lys117Met Single submitter ⚠
- p.Lys184Arg Single submitter ⚠
- p.Lys312Glu Single submitter ⚠
- p.Lys532Glu Single submitter ⚠
- p.Lys772Asn Single submitter ⚠
- p.Lys838Arg Single submitter ⚠
- p.Lys848Gln Single submitter ⚠
- p.Met101Val Single submitter ⚠
- p.Met139Val Single submitter ⚠
- p.Met154Ile Single submitter ⚠
- p.Met17Val Single submitter ⚠
- p.Met206Leu Single submitter ⚠
- p.Met537Ile Single submitter ⚠
- p.Met590Ile Single submitter ⚠
- p.Met590Thr Single submitter ⚠
- p.Met877Lys Single submitter ⚠
- p.Phe344Ile Single submitter ⚠
- p.Phe680Leu Single submitter ⚠
- p.Phe841Leu Single submitter ⚠
- p.Pro11Ser Single submitter ⚠
- p.Pro128Leu Single submitter ⚠
- p.Pro174Leu Single submitter ⚠
- p.Pro416Leu Single submitter ⚠
- p.Pro623Ser Single submitter ⚠
- p.Pro633Ala Single submitter ⚠
- p.Pro686Leu Single submitter
- p.Pro7Leu Single submitter ⚠
- p.Ser173Leu Single submitter ⚠
- p.Ser39Asn Single submitter ⚠
- p.Ser493Gly Single submitter ⚠
- p.Ser502Leu Single submitter ⚠
- p.Ser502Pro Single submitter ⚠
- p.Ser550Leu Single submitter ⚠
- p.Ser587Asn Single submitter ⚠
- p.Ser644Asn Single submitter ⚠
- p.Ser698Thr Single submitter ⚠
- p.Ser743Leu Single submitter ⚠
- p.Ser760Arg Single submitter ⚠
- p.Ser807Thr Single submitter ⚠
- p.Thr142Met Single submitter DDX54-related disorder ⚠
- p.Thr182Ile Single submitter ⚠
- p.Thr186Ala Single submitter ⚠
- p.Thr197Ile Single submitter ⚠
- p.Thr274Met Single submitter ⚠
- p.Thr294Ala Single submitter ⚠
- p.Thr359Met Single submitter ⚠
- p.Thr385Met Single submitter ⚠
- p.Thr724Met Single submitter ⚠
- p.Thr814Asn Single submitter ⚠
- p.Tyr519Cys Single submitter ⚠
- p.Tyr763Cys Single submitter ⚠
- p.Tyr768His Single submitter ⚠
- p.Val297Met Single submitter ⚠
- p.Val303Ala Single submitter ⚠
- p.Val326Met Single submitter ⚠
- p.Val342Met Single submitter ⚠
- p.Val343Met Single submitter
- p.Val394Met Single submitter ⚠
- p.Val410Ile Single submitter ⚠
- p.Val426Met Single submitter ⚠
- p.Val563Leu Single submitter ⚠
- p.Val77Gly Single submitter ⚠