EFTUD2 — 928 ClinVar variants
All ClinVar germline EFTUD2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 278 flagged for review →
97 Pathogenic · 12 Pathogenic/Likely pathogenic · 77 Likely pathogenic · 31 Conflicting · 87 Benign · 27 Benign/Likely benign · 289 Likely benign · 308 Uncertain significance
Full EFTUD2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 278
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 1
ClinVar calls these pathogenic, but the computational predictors lean tolerated — the highest-value review flag.
-
EFTUD2 p.Ser290Asn
Likely pathogenic
Single submitter
mandibulofacial dysostosis-microcephaly syndrome
Predictors agree, ClinVar conflicts 19
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
-
EFTUD2 p.Arg394Gln
Conflicting
Single submitter
Inborn genetic diseases
-
EFTUD2 p.Asn210His
Conflicting
Single submitter
Inborn genetic diseases
-
EFTUD2 p.Asn969Ser
Conflicting
Single submitter
Inborn genetic diseases
- EFTUD2 p.Asp50Asn Conflicting Single submitter
-
EFTUD2 p.Gly224Arg
Conflicting
Single submitter
mandibulofacial dysostosis-microcephaly syndrome
- EFTUD2 p.Ile150Met Conflicting Single submitter
-
EFTUD2 p.Ile524Val
Conflicting
Single submitter
Inborn genetic diseases
-
EFTUD2 p.Ile552Thr
Conflicting
Single submitter
Inborn genetic diseases
-
EFTUD2 p.Ile559Val
Conflicting
Single submitter
Inborn genetic diseases
-
EFTUD2 p.Lys681Arg
Conflicting
Single submitter
Inborn genetic diseases
- EFTUD2 p.Met55Leu Conflicting Single submitter
-
EFTUD2 p.Pro53His
Conflicting
Single submitter
Inborn genetic diseases
-
EFTUD2 p.Pro53Ser
Conflicting
Single submitter
Inborn genetic diseases
- EFTUD2 p.Pro876Leu Conflicting Single submitter
-
EFTUD2 p.Thr362Ser
Conflicting
Single submitter
Inborn genetic diseases
-
EFTUD2 p.Thr665Met
Conflicting
Single submitter
mandibulofacial dysostosis-microcephaly syndrome
-
EFTUD2 p.Val253Ile
Conflicting
Single submitter
Inborn genetic diseases
-
EFTUD2 p.Val457Leu
Conflicting
Single submitter
Inborn genetic diseases
-
EFTUD2 p.Val767Ile
Conflicting
Single submitter
Inborn genetic diseases
Predictors lean, ClinVar uncertain 201
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 201
- EFTUD2 p.Ala591Thr Uncertain significance Multiple submitters
- EFTUD2 p.Arg220His Uncertain significance Multiple submitters
-
EFTUD2 p.Arg495Gln
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
EFTUD2 p.Arg529Cys
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
EFTUD2 p.Arg645Trp
Uncertain significance
Multiple submitters
mandibulofacial dysostosis-microcephaly syndrome
-
EFTUD2 p.Asn125Asp
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
EFTUD2 p.Asn548Ser
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
EFTUD2 p.Asp42Asn
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
EFTUD2 p.Asp471Val
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
EFTUD2 p.Glu406Gln
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
EFTUD2 p.Ile170Val
Uncertain significance
Multiple submitters
Inborn genetic diseases
- EFTUD2 p.Leu617Val Uncertain significance Multiple submitters
-
EFTUD2 p.Lys422Arg
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
EFTUD2 p.Phe349Val
Uncertain significance
Multiple submitters
Inborn genetic diseases
- EFTUD2 p.Phe896Ser Uncertain significance Multiple submitters
- EFTUD2 p.Pro800Ser Uncertain significance Multiple submitters
-
EFTUD2 p.Thr239Ala
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
EFTUD2 p.Tyr636Ser
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
EFTUD2 p.Val527Met
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
EFTUD2 p.Val595Phe
Uncertain significance
Multiple submitters
mandibulofacial dysostosis-microcephaly syndrome
-
EFTUD2 p.Val81Ile
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
EFTUD2 p.Ala328Ser
Uncertain significance
Single submitter
Inborn genetic diseases
- EFTUD2 p.Ala328Thr Uncertain significance Single submitter
- EFTUD2 p.Ala360Val Uncertain significance Single submitter
- EFTUD2 p.Ala492Thr Uncertain significance Single submitter
-
EFTUD2 p.Ala503Ser
Uncertain significance
Single submitter
mandibulofacial dysostosis-microcephaly syndrome
- EFTUD2 p.Ala546Pro Uncertain significance Single submitter
- EFTUD2 p.Ala794Val Uncertain significance Single submitter
-
EFTUD2 p.Ala895Ser
Uncertain significance
Single submitter
Inborn genetic diseases
- EFTUD2 p.Arg160His Uncertain significance Single submitter
- EFTUD2 p.Arg220Cys Uncertain significance Single submitter
- EFTUD2 p.Arg220Ser Uncertain significance Single submitter
- EFTUD2 p.Arg262Gln Uncertain significance Single submitter
-
EFTUD2 p.Arg354Gln
Uncertain significance
Single submitter
Inborn genetic diseases
- EFTUD2 p.Arg367Lys Uncertain significance Single submitter
- EFTUD2 p.Arg543His Uncertain significance Single submitter
- EFTUD2 p.Arg785Trp Uncertain significance Single submitter
-
EFTUD2 p.Arg803Gln
Uncertain significance
Single submitter
mandibulofacial dysostosis-microcephaly syndrome
- EFTUD2 p.Arg803Trp Uncertain significance Single submitter
-
EFTUD2 p.Arg813Lys
Uncertain significance
Single submitter
mandibulofacial dysostosis-microcephaly syndrome
- EFTUD2 p.Arg826His Uncertain significance Single submitter
- EFTUD2 p.Arg853Cys Uncertain significance Single submitter
- EFTUD2 p.Arg888Trp Uncertain significance Single submitter
- EFTUD2 p.Arg931Trp Uncertain significance Single submitter
- EFTUD2 p.Arg939His Uncertain significance Single submitter
- EFTUD2 p.Asn548Thr Uncertain significance Single submitter
- EFTUD2 p.Asn583Ser Uncertain significance Single submitter
-
EFTUD2 p.Asn611Ser
Uncertain significance
Single submitter
mandibulofacial dysostosis-microcephaly syndrome
- EFTUD2 p.Asn680Ser Uncertain significance Single submitter
- EFTUD2 p.Asp23Asn Uncertain significance Single submitter
- EFTUD2 p.Asp24Asn Uncertain significance Single submitter
-
EFTUD2 p.Asp273Gly
Uncertain significance
Single submitter
Inborn genetic diseases
- EFTUD2 p.Asp329Glu Uncertain significance Single submitter
- EFTUD2 p.Asp41Asn Uncertain significance Single submitter
-
EFTUD2 p.Asp41Tyr
Uncertain significance
Single submitter
mandibulofacial dysostosis-microcephaly syndrome
- EFTUD2 p.Asp42Tyr Uncertain significance Single submitter
- EFTUD2 p.Asp43Asn Uncertain significance Single submitter
- EFTUD2 p.Asp43Tyr Uncertain significance Single submitter
-
EFTUD2 p.Asp460Asn
Uncertain significance
Single submitter
EFTUD2-related disorder
-
EFTUD2 p.Asp467Asn
Uncertain significance
Single submitter
mandibulofacial dysostosis-microcephaly syndrome
- EFTUD2 p.Asp471Glu Uncertain significance Single submitter
-
EFTUD2 p.Asp47Gly
Uncertain significance
Single submitter
Inborn genetic diseases
-
EFTUD2 p.Asp4Val
Uncertain significance
Single submitter
mandibulofacial dysostosis-microcephaly syndrome
- EFTUD2 p.Asp50Gly Uncertain significance Single submitter
-
EFTUD2 p.Asp62Gly
Uncertain significance
Single submitter
Inborn genetic diseases
- EFTUD2 p.Asp643Asn Uncertain significance Single submitter
-
EFTUD2 p.Asp652Tyr
Uncertain significance
Single submitter
Inborn genetic diseases
- EFTUD2 p.Asp755Asn Uncertain significance Single submitter
-
EFTUD2 p.Asp793Gly
Uncertain significance
Single submitter
Inborn genetic diseases
- EFTUD2 p.Asp85Glu Uncertain significance Single submitter
- EFTUD2 p.Cys317Arg Uncertain significance Single submitter
- EFTUD2 p.Cys468Tyr Uncertain significance Single submitter
-
EFTUD2 p.Cys780Arg
Uncertain significance
Single submitter
mandibulofacial dysostosis-microcephaly syndrome
- EFTUD2 p.Gln337His Uncertain significance Single submitter
- EFTUD2 p.Gln489Arg Uncertain significance Single submitter
- EFTUD2 p.Gln768Glu Uncertain significance Single submitter
-
EFTUD2 p.Gln892Arg
Uncertain significance
Single submitter
Inborn genetic diseases
- EFTUD2 p.Glu16Asp Uncertain significance Single submitter
-
EFTUD2 p.Glu21Asp
Uncertain significance
Single submitter
mandibulofacial dysostosis-microcephaly syndrome
-
EFTUD2 p.Glu233Gly
Uncertain significance
Single submitter
mandibulofacial dysostosis-microcephaly syndrome
- EFTUD2 p.Glu371Lys Uncertain significance Single submitter
- EFTUD2 p.Glu426Asp Uncertain significance Single submitter
- EFTUD2 p.Glu463Lys Uncertain significance Single submitter
- EFTUD2 p.Glu623Gly Uncertain significance Single submitter
- EFTUD2 p.Glu668Lys Uncertain significance Single submitter
- EFTUD2 p.Glu884Lys Uncertain significance Single submitter
- EFTUD2 p.Gly136Val Uncertain significance Single submitter
- EFTUD2 p.Gly141Ser Uncertain significance Single submitter
- EFTUD2 p.Gly305Ser Uncertain significance Single submitter
-
EFTUD2 p.Gly345Ser
Uncertain significance
Single submitter
mandibulofacial dysostosis-microcephaly syndrome
- EFTUD2 p.Gly400Val Uncertain significance Single submitter
- EFTUD2 p.Gly444Asp Uncertain significance Single submitter
- EFTUD2 p.Gly631Arg Uncertain significance Single submitter
-
EFTUD2 p.Gly805Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
EFTUD2 p.Gly805Trp
Uncertain significance
Single submitter
Inborn genetic diseases
- EFTUD2 p.Gly865Asp Uncertain significance Single submitter
- EFTUD2 p.Gly882Val Uncertain significance Single submitter
- EFTUD2 p.His140Arg Uncertain significance Single submitter
-
EFTUD2 p.His451Tyr
Uncertain significance
Single submitter
Inborn genetic diseases
-
EFTUD2 p.His491Tyr
Uncertain significance
Single submitter
mandibulofacial dysostosis-microcephaly syndrome
- EFTUD2 p.His60Asn Uncertain significance Single submitter
- EFTUD2 p.Ile229Thr Uncertain significance Single submitter
- EFTUD2 p.Ile257Val Uncertain significance Single submitter
-
EFTUD2 p.Ile289Met
Uncertain significance
Single submitter
Inborn genetic diseases
- EFTUD2 p.Ile299Val Uncertain significance Single submitter
- EFTUD2 p.Ile347Val Uncertain significance Single submitter
- EFTUD2 p.Ile373Asn Uncertain significance Single submitter
-
EFTUD2 p.Ile373Val
Uncertain significance
Single submitter
mandibulofacial dysostosis-microcephaly syndrome
-
EFTUD2 p.Ile449Phe
Uncertain significance
Single submitter
Inborn genetic diseases
- EFTUD2 p.Ile532Ser Uncertain significance Single submitter
- EFTUD2 p.Ile809Thr Uncertain significance Single submitter
- EFTUD2 p.Ile935Met Uncertain significance Single submitter
- EFTUD2 p.Leu199Phe Uncertain significance Single submitter
-
EFTUD2 p.Leu237Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
EFTUD2 p.Leu278Pro
Uncertain significance
Single submitter
mandibulofacial dysostosis-microcephaly syndrome
- EFTUD2 p.Leu288Ser Uncertain significance Single submitter
-
EFTUD2 p.Leu410Val
Uncertain significance
Single submitter
Inborn genetic diseases
- EFTUD2 p.Leu551Met Uncertain significance Single submitter
- EFTUD2 p.Leu551Pro Uncertain significance Single submitter
- EFTUD2 p.Leu604Phe Uncertain significance Single submitter
- EFTUD2 p.Leu607Pro Uncertain significance Single submitter
-
EFTUD2 p.Leu635His
Uncertain significance
Single submitter
mandibulofacial dysostosis-microcephaly syndrome
- EFTUD2 p.Leu779Arg Uncertain significance Single submitter
- EFTUD2 p.Leu898Val Uncertain significance Single submitter
- EFTUD2 p.Lys142Arg Uncertain significance Single submitter
- EFTUD2 p.Lys244Thr Uncertain significance Single submitter
- EFTUD2 p.Lys358Arg Uncertain significance Single submitter
- EFTUD2 p.Lys422Asn Uncertain significance Single submitter
-
EFTUD2 p.Lys422Glu
Uncertain significance
Single submitter
Inborn genetic diseases
- EFTUD2 p.Lys446Arg Uncertain significance Single submitter
- EFTUD2 p.Lys612Glu Uncertain significance Single submitter
-
EFTUD2 p.Lys681Glu
Uncertain significance
Single submitter
Inborn genetic diseases
- EFTUD2 p.Met116Val Uncertain significance Single submitter
- EFTUD2 p.Met123Val Uncertain significance Single submitter
- EFTUD2 p.Met291Thr Uncertain significance Single submitter
- EFTUD2 p.Met36Leu Uncertain significance Single submitter
- EFTUD2 p.Met433Val Uncertain significance Single submitter
-
EFTUD2 p.Met465Val
Uncertain significance
Single submitter
congenital anomaly of kidney and urinary tract
- EFTUD2 p.Met475Val Uncertain significance Single submitter
-
EFTUD2 p.Met687Ile
Uncertain significance
Single submitter
Inborn genetic diseases
- EFTUD2 p.Met934Val Uncertain significance Single submitter
- EFTUD2 p.Phe211Leu Uncertain significance Single submitter
- EFTUD2 p.Phe318Leu Uncertain significance Single submitter
-
EFTUD2 p.Phe349Leu
Uncertain significance
Single submitter
Inborn genetic diseases
- EFTUD2 p.Phe356Val Uncertain significance Single submitter
- EFTUD2 p.Phe582Leu Uncertain significance Single submitter
- EFTUD2 p.Phe662Leu Uncertain significance Single submitter
-
EFTUD2 p.Pro439Arg
Uncertain significance
Single submitter
Inborn genetic diseases
- EFTUD2 p.Pro53Arg Uncertain significance Single submitter
- EFTUD2 p.Pro658Ser Uncertain significance Single submitter
Predictors split 57
The independent predictors disagree with each other — read with care.
- EFTUD2 p.Ala120Gly Uncertain significance Multiple submitters
- EFTUD2 p.Gly455Ser Benign/Likely benign Multiple submitters
-
EFTUD2 p.Pro393Ala
Uncertain significance
Multiple submitters
mandibulofacial dysostosis-microcephaly syndrome
- EFTUD2 p.Pro579Leu Uncertain significance Multiple submitters
-
EFTUD2 p.Thr362Ala
Uncertain significance
Multiple submitters
Inborn genetic diseases
- EFTUD2 p.Thr669Ala Uncertain significance Multiple submitters
- EFTUD2 p.Tyr314Cys Uncertain significance Multiple submitters
-
EFTUD2 p.Val816Ile
Uncertain significance
Multiple submitters
Inborn genetic diseases
- EFTUD2 p.Ala120Val Uncertain significance Single submitter
- EFTUD2 p.Ala246Val Uncertain significance Single submitter
- EFTUD2 p.Ala69Ser Uncertain significance Single submitter
- EFTUD2 p.Ala797Asp Uncertain significance Single submitter
- EFTUD2 p.Arg394Trp Uncertain significance Single submitter
-
EFTUD2 p.Arg543Cys
Uncertain significance
Single submitter
mandibulofacial dysostosis-microcephaly syndrome
- EFTUD2 p.Arg578Gln Uncertain significance Single submitter
- EFTUD2 p.Asn596Ser Uncertain significance Single submitter
-
EFTUD2 p.Asn611Lys
Uncertain significance
Single submitter
mandibulofacial dysostosis-microcephaly syndrome
- EFTUD2 p.Asp164Val Uncertain significance Single submitter
- EFTUD2 p.Asp879Glu Uncertain significance Single submitter
-
EFTUD2 p.Cys525Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
EFTUD2 p.Glu398Lys
Conflicting
Single submitter
Inborn genetic diseases
- EFTUD2 p.Glu8Asp Uncertain significance Single submitter
- EFTUD2 p.Gly425Asp Uncertain significance Single submitter
- EFTUD2 p.Gly462Ser Uncertain significance Single submitter
- EFTUD2 p.His208Tyr Uncertain significance Single submitter
-
EFTUD2 p.Ile326Thr
Uncertain significance
Single submitter
EFTUD2-related disorder
- EFTUD2 p.Ile808Val Uncertain significance Single submitter
-
EFTUD2 p.Ile871Leu
Uncertain significance
Single submitter
Inborn genetic diseases
- EFTUD2 p.Leu5Phe Uncertain significance Single submitter
-
EFTUD2 p.Lys182Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
EFTUD2 p.Lys98Asn
Uncertain significance
Single submitter
mandibulofacial dysostosis-microcephaly syndrome
- EFTUD2 p.Met203Thr Uncertain significance Single submitter
-
EFTUD2 p.Met236Ile
Uncertain significance
Single submitter
Inborn genetic diseases
-
EFTUD2 p.Met475Ile
Uncertain significance
Single submitter
mandibulofacial dysostosis-microcephaly syndrome
- EFTUD2 p.Met687Val Uncertain significance Single submitter
- EFTUD2 p.Pro439Ser Uncertain significance Single submitter
-
EFTUD2 p.Pro579Thr
Uncertain significance
Single submitter
Inborn genetic diseases
- EFTUD2 p.Pro75Leu Uncertain significance Single submitter
-
EFTUD2 p.Pro864Leu
Conflicting
Single submitter
Inborn genetic diseases
- EFTUD2 p.Ser483Gly Benign Single submitter
- EFTUD2 p.Ser498Cys Uncertain significance Single submitter
-
EFTUD2 p.Ser761Leu
Uncertain significance
Single submitter
Inborn genetic diseases
- EFTUD2 p.Thr168Ala Uncertain significance Single submitter
- EFTUD2 p.Thr357Ala Uncertain significance Single submitter
-
EFTUD2 p.Thr390Ile
Conflicting
Single submitter
mandibulofacial dysostosis-microcephaly syndrome
- EFTUD2 p.Thr404Met Uncertain significance Single submitter
- EFTUD2 p.Thr68Ala Uncertain significance Single submitter
- EFTUD2 p.Tyr832Cys Likely benign Single submitter
- EFTUD2 p.Val255Met Uncertain significance Single submitter
- EFTUD2 p.Val285Ala Uncertain significance Single submitter
- EFTUD2 p.Val384Ala Uncertain significance Single submitter
- EFTUD2 p.Val388Met Uncertain significance Single submitter
- EFTUD2 p.Val550Ile Uncertain significance Single submitter
- EFTUD2 p.Val704Leu Uncertain significance Single submitter
-
EFTUD2 p.Val816Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
EFTUD2 p.Val849Ile
Conflicting
Single submitter
Inborn genetic diseases
-
EFTUD2 p.Val97Ala
Conflicting
Single submitter
Inborn genetic diseases
All EFTUD2 variants
Pathogenic 97
- c.1058+1G>A Multiple submitters Inborn genetic diseases
- c.2562-2del Multiple submitters mandibulofacial dysostosis-microcephaly syndrome
- c.702+1del Multiple submitters mandibulofacial dysostosis-microcephaly syndrome
- p.Arg262Trp Multiple submitters EFTUD2-related disorders
- p.Arg569Ter Multiple submitters mandibulofacial dysostosis-microcephaly syndrome
- p.Arg578Ter Multiple submitters mandibulofacial dysostosis-microcephaly syndrome
- p.Glu338Ter Multiple submitters
- p.Leu474fs Multiple submitters mandibulofacial dysostosis-microcephaly syndrome
- p.Met433fs Multiple submitters mandibulofacial dysostosis-microcephaly syndrome
- p.Trp733Ter Multiple submitters mandibulofacial dysostosis-microcephaly syndrome
- p.Tyr114Ter Multiple submitters Global developmental delay
- p.Val900fs Multiple submitters mandibulofacial dysostosis-microcephaly syndrome
- c.106-1G>C Single submitter mandibulofacial dysostosis-microcephaly syndrome
- c.106-2A>G Single submitter Inborn genetic diseases
- c.1149+1G>C Single submitter mandibulofacial dysostosis-microcephaly syndrome
- c.1150-1G>T Single submitter
- c.1150-2A>G Single submitter
- c.1413+204_1608-909del Single submitter Inborn genetic diseases
- c.1719+1G>A Single submitter mandibulofacial dysostosis-microcephaly syndrome
- c.1860+1G>A Single submitter
- c.1860+2del Single submitter
- c.1963-1G>T Single submitter
- c.2045+1G>A Single submitter
- c.2347+1G>T Single submitter
- c.2466+1G>A Single submitter
- c.2561+1G>A Single submitter mandibulofacial dysostosis-microcephaly syndrome
- c.2562-1G>A Single submitter Inborn genetic diseases
- c.2565del Single submitter mandibulofacial dysostosis-microcephaly syndrome
- c.271+2T>A Single submitter mandibulofacial dysostosis-microcephaly syndrome
- c.351-1G>T Single submitter
- c.529-2A>G Single submitter cleft lip/palate
- c.-4-2A>G Single submitter
- p.Arg785fs Single submitter Inborn genetic diseases
- p.Asn743fs Single submitter
- p.Asp295fs Single submitter mandibulofacial dysostosis-microcephaly syndrome
- p.Asp518fs Single submitter Inborn genetic diseases
- p.Cys468fs Single submitter
- p.Gln175Ter Single submitter
- p.Gln313fs Single submitter mandibulofacial dysostosis-microcephaly syndrome
- p.Gln366Ter Single submitter
- p.Gln489fs Single submitter Inborn genetic diseases
- p.Gln505Ter Single submitter
- p.Gln523fs Single submitter mandibulofacial dysostosis-microcephaly syndrome
- p.Gln557Ter Single submitter
- p.Gln719fs Single submitter mandibulofacial dysostosis-microcephaly syndrome
- p.Gln837Ter Single submitter EFTUD2-related disorders
- p.Gln87Ter Single submitter mandibulofacial dysostosis-microcephaly syndrome
- p.Gln892fs Single submitter
- p.Gln894fs Single submitter mandibulofacial dysostosis-microcephaly syndrome
- p.Gln924Ter Single submitter mandibulofacial dysostosis-microcephaly syndrome
- p.Glu127fs Single submitter mandibulofacial dysostosis-microcephaly syndrome
- p.Glu35Ter Single submitter
- p.Glu517Ter Single submitter mandibulofacial dysostosis-microcephaly syndrome
- p.Glu91fs Single submitter mandibulofacial dysostosis-microcephaly syndrome
- p.Gly195fs Single submitter
- p.Gly224Val Single submitter
- p.Gly444fs Single submitter mandibulofacial dysostosis-microcephaly syndrome
- p.Gly777Val Single submitter
- p.His208fs Single submitter
- p.His642fs Single submitter
- p.Ile157fs Single submitter mandibulofacial dysostosis-microcephaly syndrome
- p.Ile170fs Single submitter mandibulofacial dysostosis-microcephaly syndrome
- p.Ile552fs Single submitter mandibulofacial dysostosis-microcephaly syndrome
- p.Leu630fs Single submitter
- p.Leu635fs Single submitter
- p.Lys142fs Single submitter mandibulofacial dysostosis-microcephaly syndrome
- p.Lys244fs Single submitter Inborn genetic diseases
- p.Lys98Ter Single submitter
- p.Met465fs Single submitter
- p.Met603fs Single submitter mandibulofacial dysostosis-microcephaly syndrome
- p.Phe349fs Single submitter
- p.Phe718fs Single submitter
- p.Phe833fs Single submitter mandibulofacial dysostosis-microcephaly syndrome
- p.Phe881fs Single submitter mandibulofacial dysostosis-microcephaly syndrome
- p.Pro376Arg Single submitter
- p.Pro53fs Single submitter
- p.Pro867fs Single submitter mandibulofacial dysostosis-microcephaly syndrome
- p.Ser183fs Single submitter mandibulofacial dysostosis-microcephaly syndrome
- p.Ser866fs Single submitter Inborn genetic diseases
- p.Thr661fs Single submitter
- p.Tyr198Ter Single submitter mandibulofacial dysostosis-microcephaly syndrome
- p.Tyr336fs Single submitter
- p.Tyr614Ter Single submitter mandibulofacial dysostosis-microcephaly syndrome
- p.Tyr636fs Single submitter mandibulofacial dysostosis-microcephaly syndrome
- p.Val592fs Single submitter mandibulofacial dysostosis-microcephaly syndrome
- p.Val667fs Single submitter
- p.Val836fs Single submitter Inborn genetic diseases
- p.Val849fs Single submitter
- c.2823+1del No assertion criteria mandibulofacial dysostosis-microcephaly syndrome
- p.Cys256fs No assertion criteria mandibulofacial dysostosis-microcephaly syndrome
- p.Gln807fs No assertion criteria esophageal atresia/tracheoesophageal fistula
- p.His208Arg No assertion criteria mandibulofacial dysostosis-microcephaly syndrome
- p.Leu637Arg No assertion criteria mandibulofacial dysostosis-microcephaly syndrome
- p.Met1Ile No assertion criteria mandibulofacial dysostosis-microcephaly syndrome
- p.Tyr831Ter No assertion criteria mandibulofacial dysostosis-microcephaly syndrome
- p.Tyr832Ter No assertion criteria mandibulofacial dysostosis-microcephaly syndrome
- p.Val587fs No assertion criteria mandibulofacial dysostosis-microcephaly syndrome
Pathogenic/Likely pathogenic 12
- c.1414-2A>G Multiple submitters neurodevelopmental disorder
- c.1962+1G>A Multiple submitters
- c.2133-2A>G Multiple submitters mandibulofacial dysostosis-microcephaly syndrome
- c.2562-2_2562-1del Multiple submitters mandibulofacial dysostosis-microcephaly syndrome
- c.2562-2A>G Multiple submitters mandibulofacial dysostosis-microcephaly syndrome
- c.702+1G>T Multiple submitters Inborn genetic diseases
- c.703-2A>G Multiple submitters mandibulofacial dysostosis-microcephaly syndrome
- p.Arg354Ter Multiple submitters Inborn genetic diseases
- p.Arg938His Multiple submitters mandibulofacial dysostosis-microcephaly syndrome
- p.Asn286Ser Multiple submitters mandibulofacial dysostosis-microcephaly syndrome
- p.Leu190fs Multiple submitters mandibulofacial dysostosis-microcephaly syndrome
- p.Tyr514Ter Multiple submitters mandibulofacial dysostosis-microcephaly syndrome
Likely pathogenic 77
- c.1607+1G>T Multiple submitters mandibulofacial dysostosis-microcephaly syndrome
- p.Gly494Asp Multiple submitters EFTUD2-related disorder
- p.Gly769Asp Multiple submitters mandibulofacial dysostosis-microcephaly syndrome
- c.105+2T>G Single submitter Inborn genetic diseases
- c.1149+1G>A Single submitter
- c.1150-1G>A Single submitter EFTUD2-related disorders
- c.1286-2A>C Single submitter mandibulofacial dysostosis-microcephaly syndrome
- c.1286-2A>G Single submitter mandibulofacial dysostosis-microcephaly syndrome
- c.1607+3A>G Single submitter mandibulofacial dysostosis-microcephaly syndrome
- c.2045+2T>G Single submitter mandibulofacial dysostosis-microcephaly syndrome
- c.2561+1G>T Single submitter mandibulofacial dysostosis-microcephaly syndrome
- c.2562-2_2562del Single submitter
- c.(350+1_351-1 Single submitter mandibulofacial dysostosis-microcephaly syndrome
- c.351-2A>G Single submitter mandibulofacial dysostosis-microcephaly syndrome
- c.427-1G>A Single submitter mandibulofacial dysostosis-microcephaly syndrome
- c.619+1del Single submitter EFTUD2-related disorders
- c.702+1G>C Single submitter mandibulofacial dysostosis-microcephaly syndrome
- c.702+2T>C Single submitter mandibulofacial dysostosis-microcephaly syndrome
- c.870-1G>T Single submitter mandibulofacial dysostosis-microcephaly syndrome
- c.995-10T>A Single submitter esophageal atresia
- c.995-1G>C Single submitter
- p.Ala676fs Single submitter mandibulofacial dysostosis-microcephaly syndrome
- p.Ala851fs Single submitter mandibulofacial dysostosis-microcephaly syndrome
- p.Arg730His Single submitter EFTUD2-related disorders
- p.Arg919fs Single submitter
- p.Arg939fs Single submitter mandibulofacial dysostosis-microcephaly syndrome
- p.Asn548fs Single submitter
- p.Asn683Tyr Single submitter Global developmental delay
- p.Asp725Gly Single submitter
- p.Asp747fs Single submitter mandibulofacial dysostosis-microcephaly syndrome
- p.Cys135Arg Single submitter EFTUD2-related disorders
- p.Gln248Ter Single submitter
- p.Gln313Ter Single submitter EFTUD2-related disorders
- p.Gln436Ter Single submitter mandibulofacial dysostosis-microcephaly syndrome
- p.Gln575Ter Single submitter mandibulofacial dysostosis-microcephaly syndrome
- p.Glu16fs Single submitter
- p.Glu240fs Single submitter mandibulofacial dysostosis-microcephaly syndrome
- p.Glu35= Single submitter
- p.Gly141Asp Single submitter
- p.Gly180Val Single submitter
- p.Gly570= Single submitter EFTUD2-related disorders
- p.Gly633Arg Single submitter
- p.Ile875fs Single submitter
- p.Leu149Ter Single submitter mandibulofacial dysostosis-microcephaly syndrome
- p.Leu265fs Single submitter mandibulofacial dysostosis-microcephaly syndrome
- p.Leu779Phe Single submitter mandibulofacial dysostosis-microcephaly syndrome
- p.Leu801fs Single submitter EFTUD2-related disorders
- p.Lys379Asn Single submitter mandibulofacial dysostosis-microcephaly syndrome
- p.Lys581fs Single submitter mandibulofacial dysostosis-microcephaly syndrome
- p.Phe770Ser Single submitter mandibulofacial dysostosis-microcephaly syndrome
- p.Pro778His Single submitter
- p.Pro778Thr Single submitter mandibulofacial dysostosis-microcephaly syndrome
- p.Ser183Arg Single submitter mandibulofacial dysostosis-microcephaly syndrome
- p.Ser290Asn Single submitter mandibulofacial dysostosis-microcephaly syndrome ⚠
- p.Ser649Ter Single submitter mandibulofacial dysostosis-microcephaly syndrome
- p.Ser670fs Single submitter mandibulofacial dysostosis-microcephaly syndrome
- p.Ser897fs Single submitter
- p.Ter973Ser Single submitter
- p.Thr143fs Single submitter
- p.Thr678Met Single submitter mandibulofacial dysostosis-microcephaly syndrome
- p.Trp709Ter Single submitter mandibulofacial dysostosis-microcephaly syndrome
- p.Trp724Ter Single submitter mandibulofacial dysostosis-microcephaly syndrome
- p.Tyr722Ter Single submitter mandibulofacial dysostosis-microcephaly syndrome
- p.Val431fs Single submitter mandibulofacial dysostosis-microcephaly syndrome
- p.Val550Asp Single submitter mandibulofacial dysostosis-microcephaly syndrome
- p.Val843fs Single submitter mandibulofacial dysostosis-microcephaly syndrome
- c.1149+5G>C No assertion criteria
- c.1286-2del No assertion criteria mandibulofacial dysostosis-microcephaly syndrome
- c.2133-1G>T No assertion criteria
- c.350+5G>A No assertion criteria
- c.426+1dup No assertion criteria mandibulofacial dysostosis-microcephaly syndrome
- c.870-5_870-4del No assertion criteria mandibulofacial dysostosis-microcephaly syndrome
- p.Ala445fs No assertion criteria mandibulofacial dysostosis-microcephaly syndrome
- p.Glu650fs No assertion criteria Chromatinopathy
- p.Thr112fs No assertion criteria mandibulofacial dysostosis-microcephaly syndrome
- p.Tyr276Ter No assertion criteria mandibulofacial dysostosis-microcephaly syndrome
- p.Tyr847fs No assertion criteria EFTUD2-related disorder
Conflicting classifications of pathogenicity 31
- c.271+3A>G Single submitter Inborn genetic diseases
- c.2823+3A>G Single submitter
- c.351-3C>G Single submitter
- c.619+6A>T Single submitter
- p.Arg241Gln Single submitter Inborn genetic diseases
- p.Arg394Gln Single submitter Inborn genetic diseases ⚠
- p.Arg413His Single submitter Inborn genetic diseases
- p.Asn210His Single submitter Inborn genetic diseases ⚠
- p.Asn969Ser Single submitter Inborn genetic diseases ⚠
- p.Asp50Asn Single submitter ⚠
- p.Glu398Lys Single submitter Inborn genetic diseases ⚠
- p.Gly224Arg Single submitter mandibulofacial dysostosis-microcephaly syndrome ⚠
- p.Ile150Met Single submitter ⚠
- p.Ile524Val Single submitter Inborn genetic diseases ⚠
- p.Ile552Thr Single submitter Inborn genetic diseases ⚠
- p.Ile559Val Single submitter Inborn genetic diseases ⚠
- p.Lys681Arg Single submitter Inborn genetic diseases ⚠
- p.Met55Leu Single submitter ⚠
- p.Pro53His Single submitter Inborn genetic diseases ⚠
- p.Pro53Ser Single submitter Inborn genetic diseases ⚠
- p.Pro864Leu Single submitter Inborn genetic diseases ⚠
- p.Pro876Leu Single submitter ⚠
- p.Thr112Met Single submitter Inborn genetic diseases
- p.Thr362Ser Single submitter Inborn genetic diseases ⚠
- p.Thr390Ile Single submitter mandibulofacial dysostosis-microcephaly syndrome ⚠
- p.Thr665Met Single submitter mandibulofacial dysostosis-microcephaly syndrome ⚠
- p.Val253Ile Single submitter Inborn genetic diseases ⚠
- p.Val457Leu Single submitter Inborn genetic diseases ⚠
- p.Val767Ile Single submitter Inborn genetic diseases ⚠
- p.Val849Ile Single submitter Inborn genetic diseases ⚠
- p.Val97Ala Single submitter Inborn genetic diseases ⚠
Benign 87
- c.105+215G>A Multiple submitters
- c.105+219A>G Multiple submitters
- c.1058+113T>A Multiple submitters
- c.1059-31T>C Multiple submitters mandibulofacial dysostosis-microcephaly syndrome
- c.106-123A>G Multiple submitters
- c.106-27G>A Multiple submitters
- c.1149+45C>T Multiple submitters
- c.1286-318A>G Multiple submitters
- c.1413+245G>A Multiple submitters
- c.1414-245G>T Multiple submitters
- c.1607+22G>A Multiple submitters
- c.1719+51G>C Multiple submitters
- c.1720-46C>T Multiple submitters
- c.1860+168G>A Multiple submitters
- c.1963-169A>G Multiple submitters
- c.2045+28A>G Multiple submitters
- c.2045+71T>C Multiple submitters
- c.2046-102T>C Multiple submitters
- c.2132+42G>A Multiple submitters
- c.2132+93G>A Multiple submitters
- c.2466+26C>T Multiple submitters
- c.2561+213A>G Multiple submitters
- c.2562-40A>G Multiple submitters
- c.2562-55C>A Multiple submitters
- c.272-106G>A Multiple submitters
- c.272-91A>G Multiple submitters
- c.350+56G>A Multiple submitters
- c.351-18T>C Multiple submitters
- c.426+8G>A Multiple submitters mandibulofacial dysostosis-microcephaly syndrome
- c.427-98C>T Multiple submitters
- c.619+67T>C Multiple submitters
- c.620-121C>T Multiple submitters
- c.620-133G>A Multiple submitters
- c.702+126A>G Multiple submitters
- c.869+94G>A Multiple submitters
- c.870-179G>C Multiple submitters
- c.870-54G>A Multiple submitters
- c.994+6C>T Multiple submitters mandibulofacial dysostosis-microcephaly syndrome
- c.995-149T>C Multiple submitters
- c.995-18G>A Multiple submitters
- p.Thr254= Multiple submitters mandibulofacial dysostosis-microcephaly syndrome
- c.1058+98dup Single submitter
- c.1059-34C>T Single submitter
- c.1149+39T>C Single submitter
- c.1150-322G>A Single submitter
- c.1414-199_1414-197del Single submitter
- c.1607+24A>G Single submitter
- c.1607+259del Single submitter
- c.1608-53del Single submitter
- c.1608-54_1608-53del Single submitter
- c.1608-74dup Single submitter
- c.1860+102C>T Single submitter
- c.1860+16G>A Single submitter
- c.1860+244TG[11] Single submitter
- c.1860+244TG[13] Single submitter
- c.1860+244TG[14] Single submitter
- c.1962+33G>A Single submitter
- c.2132+40G>A Single submitter
- c.2133-21A>G Single submitter
- c.2260-30C>T Single submitter
- c.2260-63_2260-61del Single submitter
- c.2562-316T>G Single submitter
- c.2715+118C>G Single submitter
- c.2715+23C>T Single submitter
- c.272-9_272-8del Single submitter
- c.2823+35C>T Single submitter
- c.350+37G>C Single submitter
- c.351-42C>T Single submitter
- c.427-30G>A Single submitter
- c.492+47G>C Single submitter
- c.493-247A>G Single submitter
- c.493-268C>T Single submitter
- c.493-45G>C Single submitter
- c.528+17del Single submitter
- c.528+255_528+257del Single submitter
- c.619+280A>G Single submitter
- c.619+291A>T Single submitter
- c.620-21T>G Single submitter
- c.702+274G>A Single submitter
- c.703-290G>A Single submitter
- c.-4-229C>T Single submitter
- c.-4-313C>T Single submitter
- p.Asn710= Single submitter
- p.Asp40= Single submitter
- p.His48Pro Single submitter
- p.Ser483Gly Single submitter ⚠
- p.Thr740Ser Single submitter
Benign/Likely benign 27
- c.1058+3_1058+7del Multiple submitters mandibulofacial dysostosis-microcephaly syndrome
- c.1059-8C>G Multiple submitters
- c.106-17C>T Multiple submitters mandibulofacial dysostosis-microcephaly syndrome
- c.1414-14G>T Multiple submitters
- c.1608-17A>T Multiple submitters
- c.1719+19C>T Multiple submitters
- c.2046-20C>A Multiple submitters
- c.2132+20G>T Multiple submitters
- c.2260-10T>C Multiple submitters
- c.2260-20G>T Multiple submitters
- c.2715+18G>C Multiple submitters
- c.272-8del Multiple submitters
- c.272-8dup Multiple submitters
- c.994+7G>A Multiple submitters
- p.Ala328= Multiple submitters
- p.Ala877= Multiple submitters
- p.Asp192= Multiple submitters
- p.Asp954= Multiple submitters
- p.Cys525= Multiple submitters
- p.Gly455Ser Multiple submitters ⚠
- p.Gly554= Multiple submitters
- p.Ile539= Multiple submitters
- p.Leu381= Multiple submitters
- p.Ser899= Multiple submitters
- p.Thr526= Multiple submitters
- p.Thr566= Multiple submitters Inborn genetic diseases
- p.Val45Ile Multiple submitters
Likely benign 289
- c.1059-20G>A Multiple submitters
- c.1150-13del Multiple submitters
- c.1285+15G>A Multiple submitters
- c.1414-45C>T Multiple submitters
- c.1720-133C>G Multiple submitters
- c.1861-14C>T Multiple submitters
- c.2046-18C>T Multiple submitters
- c.2133-7T>C Multiple submitters
- c.2260-4A>G Multiple submitters
- c.2348-14C>T Multiple submitters
- c.2466+13G>A Multiple submitters
- c.2466+16G>A Multiple submitters
- c.2466+9A>G Multiple submitters
- c.2467-4G>T Multiple submitters
- c.427-62G>A Multiple submitters
- c.493-9T>C Multiple submitters
- c.620-128G>A Multiple submitters
- c.870-7G>A Multiple submitters
- c.994+238T>A Multiple submitters
- p.Ala546= Multiple submitters
- p.Ala739= Multiple submitters
- p.Arg852Lys Multiple submitters Inborn genetic diseases
- p.Asp42= Multiple submitters
- p.Gly425= Multiple submitters
- p.Gly625= Multiple submitters
- p.Gly736= Multiple submitters
- p.Gly909= Multiple submitters
- p.Leu396= Multiple submitters
- p.Leu516= Multiple submitters
- p.Leu696= Multiple submitters
- p.Phe369= Multiple submitters
- p.Ser322= Multiple submitters
- p.Ser363= Multiple submitters
- p.Ser459= Multiple submitters
- p.Thr454= Multiple submitters
- p.Thr661= Multiple submitters
- p.Thr665= Multiple submitters
- p.Thr669= Multiple submitters
- p.Thr848= Multiple submitters
- p.Thr891= Multiple submitters
- p.Tyr869= Multiple submitters
- p.Val247= Multiple submitters
- p.Val435= Multiple submitters
- p.Val507= Multiple submitters
- p.Val705= Multiple submitters
- c.105+13T>C Single submitter
- c.105+9A>C Single submitter
- c.1058+15G>A Single submitter
- c.1058+17A>G Single submitter
- c.1058+18C>T Single submitter
- c.1058+19G>A Single submitter
- c.1058+7dup Single submitter
- c.1059-14A>G Single submitter
- c.1059-18A>G Single submitter
- c.1059-20_1059-19del Single submitter
- c.106-14_106-9del Single submitter
- c.106-20C>T Single submitter
- c.106-8G>C Single submitter
- c.1150-20G>T Single submitter
- c.1150-7C>G Single submitter
- c.1285+14C>T Single submitter
- c.1285+15G>C Single submitter
- c.1285+17G>C Single submitter
- c.1285+6_1285+8del Single submitter
- c.1285+88G>T Single submitter
- c.1286-10C>G Single submitter
- c.1286-9C>T Single submitter
- c.1413+151T>C Single submitter
- c.1413+15C>G Single submitter
- c.1413+17C>T Single submitter
- c.1413+18C>G Single submitter
- c.1414-202del Single submitter
- c.1414-203_1414-200del Single submitter
- c.1414-203del Single submitter
- c.1414-4C>T Single submitter
- c.1607+114G>A Single submitter
- c.1607+11C>T Single submitter
- c.1607+16G>A Single submitter
- c.1607+7C>T Single submitter
- c.1608-15T>C Single submitter
- c.1608-56_1608-53del Single submitter
- c.1608-74_1608-73dup Single submitter
- c.1608-7G>T Single submitter
- c.1608-9T>C Single submitter
- c.1719+15G>A Single submitter
- c.1860+12G>A Single submitter
- c.1860+133G>A Single submitter
- c.1860+13C>T Single submitter
- c.1860+228_1860+230del Single submitter
- c.1861-12G>A Single submitter
- c.1861-147del Single submitter
- c.1962+17C>T Single submitter
- c.1962+18G>A Single submitter
- c.1962+4C>G Single submitter
- c.1963-57G>A Single submitter
- c.2045+16A>G Single submitter
- c.2045+19G>A Single submitter
- c.2132+19C>T Single submitter
- c.2132+20G>A Single submitter
- c.2132+20G>C Single submitter
- c.2132+95A>G Single submitter
- c.2133-20T>C Single submitter
- c.2133-4C>T Single submitter
- c.2133-9C>T Single submitter
- c.2259+31G>A Single submitter
- c.2260-12G>A Single submitter
- c.2260-17C>T Single submitter
- c.2260-39C>G Single submitter
- c.2260-5T>A Single submitter
- c.2260-5T>C Single submitter
- c.2347+20C>T Single submitter
- c.2347+41C>T Single submitter
- c.2348-19C>T Single submitter
- c.2466+15C>T Single submitter
- c.2466+8A>G Single submitter
- c.2467-12G>C Single submitter
- c.2467-17T>G Single submitter
- c.2561+13A>T Single submitter
- c.2561+14G>A Single submitter
- c.2561+17G>A Single submitter
- c.2561+7G>A Single submitter
- c.2561+9C>T Single submitter
- c.2562-12T>C Single submitter
- c.271+16A>G Single submitter
- c.271+17T>C Single submitter
- c.271+19G>A Single submitter
- c.271+7C>T Single submitter
- c.271+8A>G Single submitter
- c.2715+18G>T Single submitter
- c.2715+7A>G Single submitter
- c.2716-234C>T Single submitter
- c.2716-8C>G Single submitter
- c.272-10T>C Single submitter
- c.272-20A>G Single submitter
- c.272-4C>G Single submitter
- c.272-4C>T Single submitter
- c.272-7C>T Single submitter
- c.272-8T>C Single submitter
- c.2823+10C>A Single submitter
- c.2823+12T>C Single submitter
- c.2823+16G>A Single submitter
- c.2823+18C>T Single submitter
- c.2823+20G>A Single submitter
- c.2823+7_2823+8insTCA Single submitter
- c.2824-12C>G Single submitter
- c.350+13G>T Single submitter
- c.350+43G>C Single submitter
- c.351-22_351-18del Single submitter
- c.427-9C>T Single submitter
- c.492+12T>C Single submitter
- c.492+16G>A Single submitter
- c.493-12dup Single submitter
- c.493-17A>G Single submitter
- c.528+11C>T Single submitter
- c.529-11G>C Single submitter
- c.529-15_529-14del Single submitter
- c.529-35A>G Single submitter
- c.619+8A>G Single submitter
- c.702+8A>G Single submitter
- c.703-20C>G Single submitter
- c.703-292C>T Single submitter
- c.703-5C>G Single submitter
- c.703-6T>C Single submitter
- c.869+10C>T Single submitter
- c.869+13T>A Single submitter
- c.869+17A>C Single submitter
- c.870-20C>T Single submitter
- c.870-7G>C Single submitter
- c.994+11G>A Single submitter
- c.994+15G>A Single submitter
- c.994+9T>C Single submitter
- c.995-7C>T Single submitter
- p.Ala120= Single submitter
- p.Ala246= Single submitter
- p.Ala340= Single submitter
- p.Ala492= Single submitter
- p.Ala535= Single submitter
- p.Ala591= Single submitter
- p.Ala689= Single submitter
- p.Ala728= Single submitter
- p.Ala797Ser Single submitter mandibulofacial dysostosis-microcephaly syndrome
- p.Arg529= Single submitter
- p.Arg785= Single submitter
- p.Arg888= Single submitter
- p.Asn306= Single submitter
- p.Asn542= Single submitter
- p.Asn702= Single submitter
- p.Asn743= Single submitter
- p.Asp273= Single submitter
- p.Asp39= Single submitter
- p.Asp397= Single submitter
- p.Asp43= Single submitter
- p.Asp518= Single submitter
- p.Asp657= Single submitter
- p.Cys842= Single submitter
- p.Gln807= Single submitter
- p.Glu233= Single submitter
- p.Glu512= Single submitter
- p.Glu519= Single submitter
- p.Glu70= Single submitter
- p.Glu71= Single submitter
- p.Glu76Asp Single submitter Inborn genetic diseases
- p.Glu84= Single submitter
- p.Gly207= Single submitter
- p.Gly321= Single submitter
- p.Gly444= Single submitter
- p.Gly715= Single submitter
- p.Gly804= Single submitter
- p.Gly806= Single submitter
- p.His137= Single submitter
- p.His140= Single submitter
- p.His208= Single submitter
- p.His491= Single submitter
- p.His856= Single submitter
- p.His928= Single submitter
- p.Ile129= Single submitter
- p.Ile202Val Single submitter Inborn genetic diseases
- p.Ile299= Single submitter
- p.Ile326= Single submitter
- p.Ile334= Single submitter
- p.Ile347= Single submitter
- p.Ile412= Single submitter
- p.Ile449= Single submitter
- p.Ile576Val Single submitter Inborn genetic diseases
- p.Ile685= Single submitter
- p.Ile766= Single submitter
- p.Ile809= Single submitter
- p.Ile878= Single submitter
- p.Ile935= Single submitter
- p.Leu104= Single submitter
- p.Leu190= Single submitter
- p.Leu242= Single submitter
- p.Leu267= Single submitter
- p.Leu269= Single submitter
- p.Leu298= Single submitter
- p.Leu461= Single submitter
- p.Leu672= Single submitter
- p.Leu779= Single submitter
- p.Leu868= Single submitter
- p.Leu959= Single submitter
- p.Lys448= Single submitter
- p.Lys609Arg Single submitter Inborn genetic diseases
- p.Lys673= Single submitter
- p.Lys694= Single submitter
- p.Lys788= Single submitter
- p.Met36Val Single submitter Inborn genetic diseases
- p.Phe318= Single submitter
- p.Phe953= Single submitter
- p.Pro15= Single submitter
- p.Pro155= Single submitter
- p.Pro470= Single submitter
- p.Pro597= Single submitter
- p.Pro658= Single submitter
- p.Pro876= Single submitter
- p.Pro908= Single submitter
- p.Ser312= Single submitter
- p.Ser315Asn Single submitter Inborn genetic diseases
- p.Ser365= Single submitter
- p.Ser624= Single submitter
- p.Ser765= Single submitter
- p.Ser866= Single submitter
- p.Thr187= Single submitter
- p.Thr193= Single submitter
- p.Thr319= Single submitter
- p.Thr404= Single submitter
- p.Thr584= Single submitter
- p.Thr585= Single submitter
- p.Thr678= Single submitter
- p.Tyr12= Single submitter
- p.Tyr336= Single submitter
- p.Tyr537= Single submitter
- p.Tyr65= Single submitter
- p.Tyr66= Single submitter
- p.Tyr832Cys Single submitter ⚠
- p.Val113= Single submitter
- p.Val209= Single submitter
- p.Val255= Single submitter
- p.Val282= Single submitter
- p.Val307= Single submitter
- p.Val370Met Single submitter
- p.Val384Ile Single submitter
- p.Val541= Single submitter
- p.Val640= Single submitter
- p.Val655= Single submitter
- p.Val660= Single submitter
- p.Val666= Single submitter
- p.Val815= Single submitter
- c.619+6A>G No assertion criteria EFTUD2-related disorder
- p.Glu426= No assertion criteria EFTUD2-related disorder
Uncertain significance 308
Showing the top 300 by review status; the full set is in the sitemap.
- c.2347+3A>G Multiple submitters Inborn genetic diseases
- p.Ala120Gly Multiple submitters ⚠
- p.Ala591Thr Multiple submitters ⚠
- p.Arg220His Multiple submitters ⚠
- p.Arg495Gln Multiple submitters Inborn genetic diseases ⚠
- p.Arg529Cys Multiple submitters Inborn genetic diseases ⚠
- p.Arg645Trp Multiple submitters mandibulofacial dysostosis-microcephaly syndrome ⚠
- p.Asn125Asp Multiple submitters Inborn genetic diseases ⚠
- p.Asn548Ser Multiple submitters Inborn genetic diseases ⚠
- p.Asp42Asn Multiple submitters Inborn genetic diseases ⚠
- p.Asp471Val Multiple submitters Inborn genetic diseases ⚠
- p.Glu406Gln Multiple submitters Inborn genetic diseases ⚠
- p.Ile170Val Multiple submitters Inborn genetic diseases ⚠
- p.Leu617Val Multiple submitters ⚠
- p.Lys422Arg Multiple submitters Inborn genetic diseases ⚠
- p.Phe349Val Multiple submitters Inborn genetic diseases ⚠
- p.Phe896Ser Multiple submitters ⚠
- p.Pro393Ala Multiple submitters mandibulofacial dysostosis-microcephaly syndrome ⚠
- p.Pro579Leu Multiple submitters ⚠
- p.Pro800Ser Multiple submitters ⚠
- p.Thr239Ala Multiple submitters Inborn genetic diseases ⚠
- p.Thr362Ala Multiple submitters Inborn genetic diseases ⚠
- p.Thr669Ala Multiple submitters ⚠
- p.Tyr314Cys Multiple submitters ⚠
- p.Tyr636Ser Multiple submitters Inborn genetic diseases ⚠
- p.Val527Met Multiple submitters Inborn genetic diseases ⚠
- p.Val595Phe Multiple submitters mandibulofacial dysostosis-microcephaly syndrome ⚠
- p.Val816Ile Multiple submitters Inborn genetic diseases ⚠
- p.Val81Ile Multiple submitters Inborn genetic diseases ⚠
- c.1059-4T>G Single submitter
- c.106-9_106-8delinsCC Single submitter
- c.1150-20_1150-4del Single submitter
- c.1150-3C>G Single submitter
- c.1150-9C>G Single submitter mandibulofacial dysostosis-microcephaly syndrome
- c.1413+7G>T Single submitter
- c.1414-3C>T Single submitter
- c.1414-3del Single submitter
- c.1414-5T>A Single submitter
- c.1607+4C>T Single submitter
- c.1608-16T>G Single submitter
- c.1719+3A>G Single submitter
- c.1720-11T>C Single submitter
- c.1720-20C>T Single submitter
- c.1720-3C>G Single submitter
- c.1860+3A>G Single submitter
- c.1860+6C>G Single submitter
- c.1861-9_1861-7del Single submitter mandibulofacial dysostosis-microcephaly syndrome
- c.2045+5G>A Single submitter Inborn genetic diseases
- c.2132+5G>A Single submitter
- c.2133-5C>G Single submitter
- c.2260-2A>C Single submitter
- c.2260-9T>A Single submitter
- c.2347+5G>A Single submitter mandibulofacial dysostosis-microcephaly syndrome
- c.2466+2T>C Single submitter mandibulofacial dysostosis-microcephaly syndrome
- c.2561+6C>T Single submitter
- c.2823+2T>C Single submitter
- c.427-3T>G Single submitter
- c.702+3_702+4delinsAG Single submitter mandibulofacial dysostosis-microcephaly syndrome
- c.869+4G>T Single submitter
- c.870-10T>G Single submitter
- c.870-11CT[3] Single submitter
- c.994+5G>T Single submitter EFTUD2-related disorder
- c.-4-7A>G Single submitter
- p.Ala120Ser Single submitter
- p.Ala120Val Single submitter ⚠
- p.Ala217Gly Single submitter
- p.Ala246Val Single submitter ⚠
- p.Ala328Ser Single submitter Inborn genetic diseases ⚠
- p.Ala328Thr Single submitter ⚠
- p.Ala360Val Single submitter ⚠
- p.Ala492Thr Single submitter ⚠
- p.Ala503Ser Single submitter mandibulofacial dysostosis-microcephaly syndrome ⚠
- p.Ala546Pro Single submitter ⚠
- p.Ala69Ser Single submitter ⚠
- p.Ala794Val Single submitter ⚠
- p.Ala797Asp Single submitter ⚠
- p.Ala877Gly Single submitter
- p.Ala895Ser Single submitter Inborn genetic diseases ⚠
- p.Arg160His Single submitter ⚠
- p.Arg220Cys Single submitter ⚠
- p.Arg220Ser Single submitter ⚠
- p.Arg262Gln Single submitter ⚠
- p.Arg354Gln Single submitter Inborn genetic diseases ⚠
- p.Arg367Lys Single submitter ⚠
- p.Arg394Trp Single submitter ⚠
- p.Arg536= Single submitter
- p.Arg543Cys Single submitter mandibulofacial dysostosis-microcephaly syndrome ⚠
- p.Arg543His Single submitter ⚠
- p.Arg578Gln Single submitter ⚠
- p.Arg785Trp Single submitter ⚠
- p.Arg803Gln Single submitter mandibulofacial dysostosis-microcephaly syndrome ⚠
- p.Arg803Trp Single submitter ⚠
- p.Arg813Lys Single submitter mandibulofacial dysostosis-microcephaly syndrome ⚠
- p.Arg826His Single submitter ⚠
- p.Arg853Cys Single submitter ⚠
- p.Arg888Trp Single submitter ⚠
- p.Arg931Trp Single submitter ⚠
- p.Arg939His Single submitter ⚠
- p.Asn548Thr Single submitter ⚠
- p.Asn583Ser Single submitter ⚠
- p.Asn596Ser Single submitter ⚠
- p.Asn611Lys Single submitter mandibulofacial dysostosis-microcephaly syndrome ⚠
- p.Asn611Ser Single submitter mandibulofacial dysostosis-microcephaly syndrome ⚠
- p.Asn680Ser Single submitter ⚠
- p.Asp164Val Single submitter ⚠
- p.Asp192Gly Single submitter
- p.Asp23Asn Single submitter ⚠
- p.Asp24Asn Single submitter ⚠
- p.Asp273Gly Single submitter Inborn genetic diseases ⚠
- p.Asp295Val Single submitter
- p.Asp329Glu Single submitter ⚠
- p.Asp41Asn Single submitter ⚠
- p.Asp41Tyr Single submitter mandibulofacial dysostosis-microcephaly syndrome ⚠
- p.Asp42Tyr Single submitter ⚠
- p.Asp43Asn Single submitter ⚠
- p.Asp43Tyr Single submitter ⚠
- p.Asp44del Single submitter
- p.Asp460Asn Single submitter EFTUD2-related disorder ⚠
- p.Asp467Asn Single submitter mandibulofacial dysostosis-microcephaly syndrome ⚠
- p.Asp471Glu Single submitter ⚠
- p.Asp47Gly Single submitter Inborn genetic diseases ⚠
- p.Asp4Val Single submitter mandibulofacial dysostosis-microcephaly syndrome ⚠
- p.Asp50Gly Single submitter ⚠
- p.Asp62Gly Single submitter Inborn genetic diseases ⚠
- p.Asp643Asn Single submitter ⚠
- p.Asp652Tyr Single submitter Inborn genetic diseases ⚠
- p.Asp755Asn Single submitter ⚠
- p.Asp793Gly Single submitter Inborn genetic diseases ⚠
- p.Asp85Glu Single submitter ⚠
- p.Asp879Glu Single submitter ⚠
- p.Cys317Arg Single submitter ⚠
- p.Cys468Tyr Single submitter ⚠
- p.Cys525Arg Single submitter Inborn genetic diseases ⚠
- p.Cys780Arg Single submitter mandibulofacial dysostosis-microcephaly syndrome ⚠
- p.Gln337His Single submitter ⚠
- p.Gln489Arg Single submitter ⚠
- p.Gln768Glu Single submitter ⚠
- p.Gln892Arg Single submitter Inborn genetic diseases ⚠
- p.Glu16Asp Single submitter ⚠
- p.Glu21Asp Single submitter mandibulofacial dysostosis-microcephaly syndrome ⚠
- p.Glu233Gly Single submitter mandibulofacial dysostosis-microcephaly syndrome ⚠
- p.Glu371Lys Single submitter ⚠
- p.Glu426Asp Single submitter ⚠
- p.Glu463Lys Single submitter ⚠
- p.Glu623Gly Single submitter ⚠
- p.Glu668Lys Single submitter ⚠
- p.Glu70Lys Single submitter
- p.Glu884Lys Single submitter ⚠
- p.Glu8Asp Single submitter ⚠
- p.Gly136Val Single submitter ⚠
- p.Gly141Ser Single submitter ⚠
- p.Gly234= Single submitter
- p.Gly305Ser Single submitter ⚠
- p.Gly345Ser Single submitter mandibulofacial dysostosis-microcephaly syndrome ⚠
- p.Gly400Val Single submitter ⚠
- p.Gly425Asp Single submitter ⚠
- p.Gly444Asp Single submitter ⚠
- p.Gly462Ser Single submitter ⚠
- p.Gly631Arg Single submitter ⚠
- p.Gly805Arg Single submitter Inborn genetic diseases ⚠
- p.Gly805Trp Single submitter Inborn genetic diseases ⚠
- p.Gly865Asp Single submitter ⚠
- p.Gly882Val Single submitter ⚠
- p.His140Arg Single submitter ⚠
- p.His208Tyr Single submitter ⚠
- p.His451Tyr Single submitter Inborn genetic diseases ⚠
- p.His491Tyr Single submitter mandibulofacial dysostosis-microcephaly syndrome ⚠
- p.His60Asn Single submitter ⚠
- p.Ile229Thr Single submitter ⚠
- p.Ile257Val Single submitter ⚠
- p.Ile289Met Single submitter Inborn genetic diseases ⚠
- p.Ile299Val Single submitter ⚠
- p.Ile326Thr Single submitter EFTUD2-related disorder ⚠
- p.Ile347Val Single submitter ⚠
- p.Ile373Asn Single submitter ⚠
- p.Ile373Val Single submitter mandibulofacial dysostosis-microcephaly syndrome ⚠
- p.Ile449Phe Single submitter Inborn genetic diseases ⚠
- p.Ile532Ser Single submitter ⚠
- p.Ile653Leu Single submitter mandibulofacial dysostosis-microcephaly syndrome
- p.Ile808Val Single submitter ⚠
- p.Ile809Thr Single submitter ⚠
- p.Ile871Leu Single submitter Inborn genetic diseases ⚠
- p.Ile935Met Single submitter ⚠
- p.Leu128Phe Single submitter
- p.Leu199Phe Single submitter ⚠
- p.Leu237Val Single submitter Inborn genetic diseases ⚠
- p.Leu278Pro Single submitter mandibulofacial dysostosis-microcephaly syndrome ⚠
- p.Leu288Ser Single submitter ⚠
- p.Leu392Val Single submitter
- p.Leu410Val Single submitter Inborn genetic diseases ⚠
- p.Leu551Met Single submitter ⚠
- p.Leu551Pro Single submitter ⚠
- p.Leu5Phe Single submitter ⚠
- p.Leu604Phe Single submitter ⚠
- p.Leu607Pro Single submitter ⚠
- p.Leu635His Single submitter mandibulofacial dysostosis-microcephaly syndrome ⚠
- p.Leu779Arg Single submitter ⚠
- p.Leu898Val Single submitter ⚠
- p.Lys142= Single submitter
- p.Lys142Arg Single submitter ⚠
- p.Lys182Arg Single submitter Inborn genetic diseases ⚠
- p.Lys244Thr Single submitter ⚠
- p.Lys358Arg Single submitter ⚠
- p.Lys422Asn Single submitter ⚠
- p.Lys422Glu Single submitter Inborn genetic diseases ⚠
- p.Lys446Arg Single submitter ⚠
- p.Lys612Glu Single submitter ⚠
- p.Lys63Arg Single submitter
- p.Lys681Glu Single submitter Inborn genetic diseases ⚠
- p.Lys98Asn Single submitter mandibulofacial dysostosis-microcephaly syndrome ⚠
- p.Met116Val Single submitter ⚠
- p.Met123Val Single submitter ⚠
- p.Met203Thr Single submitter ⚠
- p.Met236Ile Single submitter Inborn genetic diseases ⚠
- p.Met236Val Single submitter
- p.Met291Thr Single submitter ⚠
- p.Met36Leu Single submitter ⚠
- p.Met433Val Single submitter ⚠
- p.Met465Val Single submitter congenital anomaly of kidney and urinary tract ⚠
- p.Met475Ile Single submitter mandibulofacial dysostosis-microcephaly syndrome ⚠
- p.Met475Val Single submitter ⚠
- p.Met687Ile Single submitter Inborn genetic diseases ⚠
- p.Met687Val Single submitter ⚠
- p.Met934Val Single submitter ⚠
- p.Phe211Leu Single submitter ⚠
- p.Phe318Leu Single submitter ⚠
- p.Phe349Leu Single submitter Inborn genetic diseases ⚠
- p.Phe356Val Single submitter ⚠
- p.Phe582Leu Single submitter ⚠
- p.Phe662Leu Single submitter ⚠
- p.Pro361Ser Single submitter
- p.Pro439Arg Single submitter Inborn genetic diseases ⚠
- p.Pro439Ser Single submitter ⚠
- p.Pro53Arg Single submitter ⚠
- p.Pro579Thr Single submitter Inborn genetic diseases ⚠
- p.Pro658Ser Single submitter ⚠
- p.Pro75Leu Single submitter ⚠
- p.Pro839Ser Single submitter ⚠
- p.Pro911Ser Single submitter ⚠
- p.Pro925Ala Single submitter Inborn genetic diseases ⚠
- p.Pro96Leu Single submitter ⚠
- p.Pro971Ala Single submitter mandibulofacial dysostosis-microcephaly syndrome ⚠
- p.Ser19Phe Single submitter ⚠
- p.Ser212Cys Single submitter ⚠
- p.Ser212Pro Single submitter ⚠
- p.Ser222Ala Single submitter ⚠
- p.Ser315Arg Single submitter ⚠
- p.Ser363Asn Single submitter ⚠
- p.Ser364Asn Single submitter ⚠
- p.Ser365Asn Single submitter
- p.Ser391Arg Single submitter ⚠
- p.Ser459Cys Single submitter ⚠
- p.Ser466Arg Single submitter ⚠
- p.Ser466Asn Single submitter ⚠
- p.Ser498Cys Single submitter ⚠
- p.Ser761Leu Single submitter Inborn genetic diseases ⚠
- p.Ser944Ile Single submitter EFTUD2-related disorder ⚠
- p.Thr108Ala Single submitter ⚠
- p.Thr168Ala Single submitter ⚠
- p.Thr184Ile Single submitter ⚠
- p.Thr272Ala Single submitter ⚠
- p.Thr319Met Single submitter ⚠
- p.Thr357Ala Single submitter ⚠
- p.Thr404Met Single submitter ⚠
- p.Thr428= Single submitter
- p.Thr452Ala Single submitter ⚠
- p.Thr452Ile Single submitter ⚠
- p.Thr454Ile Single submitter ⚠
- p.Thr478Ala Single submitter ⚠
- p.Thr479Ala Single submitter ⚠
- p.Thr619Ser Single submitter ⚠
- p.Thr661Arg Single submitter ⚠
- p.Thr68Ala Single submitter ⚠
- p.Thr870Asn Single submitter ⚠
- p.Thr937Ala Single submitter ⚠
- p.Trp709Gly Single submitter ⚠
- p.Trp724Cys Single submitter ⚠
- p.Tyr348_Phe349insTyr Single submitter
- p.Tyr514Cys Single submitter ⚠
- p.Val111Leu Single submitter ⚠
- p.Val179= Single submitter EFTUD2-related disorder
- p.Val215Leu Single submitter ⚠
- p.Val215Phe Single submitter ⚠
- p.Val247Leu Single submitter Inborn genetic diseases ⚠
- p.Val255Met Single submitter ⚠
- p.Val285Ala Single submitter ⚠
- p.Val307Ile Single submitter ⚠
- p.Val384Ala Single submitter ⚠
- p.Val388Met Single submitter ⚠
- p.Val435Met Single submitter ⚠
- p.Val443Gly Single submitter ⚠
- p.Val496Glu Single submitter ⚠
- p.Val507Leu Single submitter Inborn genetic diseases ⚠
- p.Val509= Single submitter
- p.Val550Ile Single submitter ⚠
- p.Val560Met Single submitter ⚠
- p.Val58Ala Single submitter ⚠
- p.Val592Met Single submitter Inborn genetic diseases ⚠
- p.Val610Asp Single submitter ⚠
- p.Val621Gly Single submitter ⚠