ADAT3 — 177 ClinVar variants
All ClinVar germline ADAT3 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more.
1 Pathogenic · 1 Pathogenic/Likely pathogenic · 3 Likely pathogenic · 6 Conflicting · 5 Benign · 3 Benign/Likely benign · 19 Likely benign · 139 Uncertain significance
Full ADAT3 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactionsAll ADAT3 variants
Pathogenic 1
- p.Glu36fs No assertion criteria intellectual disability-strabismus syndrome
Pathogenic/Likely pathogenic 1
- p.Val144Met Multiple submitters Neurodevelopmental disorder with brain abnormalities
Likely pathogenic 3
- p.Pro10fs Multiple submitters intellectual disability-strabismus syndrome
- p.Asp55fs Single submitter intellectual disability-strabismus syndrome
- p.Glu107Lys Single submitter intellectual disability-strabismus syndrome
Conflicting classifications of pathogenicity 6
- p.Ala196fs Single submitter intellectual disability-strabismus syndrome
- p.Ala61Ser Single submitter Inborn genetic diseases
- p.Arg128Leu Single submitter Inborn genetic diseases
- p.Arg147Gln Single submitter Inborn genetic diseases
- p.Phe259Leu Single submitter Inborn genetic diseases
- p.Thr183Met Single submitter
Benign 5
- p.Leu314= Multiple submitters
- p.Met242Val Multiple submitters
- p.Ser121= Multiple submitters
- p.Ser174= Multiple submitters
- p.Thr296= Multiple submitters intellectual disability-strabismus syndrome
Benign/Likely benign 3
Likely benign 19
- p.Asp285Ala Multiple submitters Inborn genetic diseases
- p.Pro148= Multiple submitters
- p.Pro37= Multiple submitters
- p.Ser12= Multiple submitters
- p.Ala308Thr Single submitter
- p.Ala326= Single submitter
- p.Arg147= Single submitter
- p.Arg202Gln Single submitter Inborn genetic diseases
- p.Asn235Ser Single submitter Inborn genetic diseases
- p.Asp234Ala Single submitter Inborn genetic diseases
- p.Asp289= Single submitter
- p.Asp55= Single submitter
- p.Gly290= Single submitter
- p.His340= Single submitter
- p.Lys51Gln Single submitter Inborn genetic diseases
- p.Phe155= Single submitter
- p.Pro86= Single submitter
- p.Ser49= Single submitter
- p.Ter368= Single submitter Inborn genetic diseases
Uncertain significance 139
- p.Ala20Val Multiple submitters intellectual disability-strabismus syndrome
- p.Arg209Gln Multiple submitters
- p.Arg250Cys Multiple submitters intellectual disability-strabismus syndrome
- p.Asp330Asn Multiple submitters
- p.Gln274fs Multiple submitters intellectual disability-strabismus syndrome
- p.Glu357Gln Multiple submitters Inborn genetic diseases
- p.Glu36Asp Multiple submitters Inborn genetic diseases
- p.Gly251Ser Multiple submitters intellectual disability-strabismus syndrome
- p.His316Pro Multiple submitters intellectual disability-strabismus syndrome
- p.Leu247Val Multiple submitters Inborn genetic diseases
- p.Pro292Leu Multiple submitters Inborn genetic diseases
- p.Pro292Ser Multiple submitters intellectual disability-strabismus syndrome
- p.Val223Met Multiple submitters Inborn genetic diseases
- p.Ala100Gly Single submitter Inborn genetic diseases
- p.Ala105Gly Single submitter Inborn genetic diseases
- p.Ala113Gly Single submitter intellectual disability-strabismus syndrome
- p.Ala113Thr Single submitter Inborn genetic diseases
- p.Ala146fs Single submitter
- p.Ala146Thr Single submitter Inborn genetic diseases
- p.Ala146Val Single submitter Inborn genetic diseases
- p.Ala177Thr Single submitter Inborn genetic diseases
- p.Ala196Leu Single submitter
- p.Ala196Val Single submitter
- p.Ala199Val Single submitter Inborn genetic diseases
- p.Ala203Glu Single submitter Inborn genetic diseases
- p.Ala20Thr Single submitter Inborn genetic diseases
- p.Ala233Thr Single submitter Inborn genetic diseases
- p.Ala240Thr Single submitter Inborn genetic diseases
- p.Ala268Gly Single submitter Inborn genetic diseases
- p.Ala268Thr Single submitter Inborn genetic diseases
- p.Ala271Gly Single submitter Inborn genetic diseases
- p.Ala271Thr Single submitter Inborn genetic diseases
- p.Ala280Val Single submitter Inborn genetic diseases
- p.Ala286Thr Single submitter Inborn genetic diseases
- p.Ala40Ser Single submitter Inborn genetic diseases
- p.Ala40Val Single submitter Inborn genetic diseases
- p.Arg128Trp Single submitter Inborn genetic diseases
- p.Arg152Lys Single submitter
- p.Arg201Trp Single submitter Inborn genetic diseases
- p.Arg202Gly Single submitter Inborn genetic diseases
- p.Arg202Trp Single submitter
- p.Arg209Pro Single submitter Inborn genetic diseases
- p.Arg254His Single submitter
- p.Arg304Cys Single submitter Inborn genetic diseases
- p.Arg321His Single submitter Inborn genetic diseases
- p.Arg321Pro Single submitter Inborn genetic diseases
- p.Arg336Gly Single submitter Inborn genetic diseases
- p.Arg338His Single submitter Inborn genetic diseases
- p.Arg342Leu Single submitter Inborn genetic diseases
- p.Arg348His Single submitter Inborn genetic diseases
- p.Arg353Cys Single submitter Inborn genetic diseases
- p.Arg353His Single submitter Inborn genetic diseases
- p.Arg361Gly Single submitter Inborn genetic diseases
- p.Arg6Cys Single submitter
- p.Arg74His Single submitter Inborn genetic diseases
- p.Arg93Gln Single submitter Inborn genetic diseases
- p.Arg98Gly Single submitter intellectual disability-strabismus syndrome
- p.Asn346Ser Single submitter Inborn genetic diseases
- p.Asn346Thr Single submitter Inborn genetic diseases
- p.Asp258Ala Single submitter Inborn genetic diseases
- p.Asp258Gly Single submitter Inborn genetic diseases
- p.Asp299Asn Single submitter Inborn genetic diseases
- p.Asp299Glu Single submitter intellectual disability-strabismus syndrome
- p.Asp330Tyr Single submitter Inborn genetic diseases
- p.Asp99Val Single submitter Inborn genetic diseases
- p.Cys265Ser Single submitter Inborn genetic diseases
- p.Cys29Trp Single submitter Inborn genetic diseases
- p.Cys310Ter Single submitter intellectual disability-strabismus syndrome
- p.Gln184Arg Single submitter intellectual disability-strabismus syndrome
- p.Gln184Pro Single submitter Inborn genetic diseases
- p.Gln252Arg Single submitter intellectual disability-strabismus syndrome
- p.Gln26His Single submitter Inborn genetic diseases
- p.Gln274Arg Single submitter Inborn genetic diseases
- p.Gln274Glu Single submitter Inborn genetic diseases
- p.Gln274Lys Single submitter Inborn genetic diseases
- p.Glu18Asp Single submitter intellectual disability-strabismus syndrome
- p.Glu194Asp Single submitter Inborn genetic diseases
- p.Glu288Lys Single submitter
- p.Glu36Asp Single submitter Inborn genetic diseases
- p.Gly118Asp Single submitter Inborn genetic diseases
- p.Gly212_Val214del Single submitter
- p.Gly227Asp Single submitter Inborn genetic diseases
- p.Gly22Val Single submitter Inborn genetic diseases
- p.Gly325Arg Single submitter
- p.Gly334Val Single submitter intellectual disability-strabismus syndrome
- p.Gly54Arg Single submitter Inborn genetic diseases
- p.Gly54Glu Single submitter Inborn genetic diseases
- p.His239Pro Single submitter
- p.Ile339_His340insArgIle Single submitter intellectual disability-strabismus syndrome
- p.Leu125Pro Single submitter Inborn genetic diseases
- p.Leu176Arg Single submitter
- p.Leu23Phe Single submitter
- p.Leu291Phe Single submitter Inborn genetic diseases
- p.Leu291Val Single submitter Inborn genetic diseases
- p.Leu314Pro Single submitter intellectual disability-strabismus syndrome
- p.Leu356Val Single submitter Inborn genetic diseases
- p.Lys69Gln Single submitter Inborn genetic diseases
- p.Lys92Gln Single submitter
- p.Met189Leu Single submitter Inborn genetic diseases
- p.Met193Ile Single submitter Inborn genetic diseases
- p.Met242Ile Single submitter Inborn genetic diseases
- p.Met309Leu Single submitter Inborn genetic diseases
- p.Met309Val Single submitter Inborn genetic diseases
- p.Pro119Thr Single submitter Inborn genetic diseases
- p.Pro143Ala Single submitter intellectual disability-strabismus syndrome
- p.Pro143Leu Single submitter Inborn genetic diseases
- p.Pro19Leu Single submitter Inborn genetic diseases
- p.Pro21Arg Single submitter
- p.Pro236Ser Single submitter Inborn genetic diseases
- p.Pro269Leu Single submitter
- p.Pro329Ala Single submitter Inborn genetic diseases
- p.Pro35Arg Single submitter
- p.Pro365Ala Single submitter
- p.Pro39Leu Single submitter Inborn genetic diseases
- p.Pro84Arg Single submitter Inborn genetic diseases
- p.Ser102Gly Single submitter Inborn genetic diseases
- p.Ser117Leu Single submitter Inborn genetic diseases
- p.Ser121Leu Single submitter
- p.Ser182Cys Single submitter
- p.Ser182Phe Single submitter intellectual disability-strabismus syndrome
- p.Ser80Leu Single submitter Inborn genetic diseases
- p.Ser80Pro Single submitter
- p.Thr226Pro Single submitter Inborn genetic diseases
- p.Thr303Ile Single submitter Inborn genetic diseases
- p.Thr335Ile Single submitter Inborn genetic diseases
- p.Thr335Ser Single submitter Inborn genetic diseases
- p.Thr367Lys Single submitter Inborn genetic diseases
- p.Thr367Met Single submitter Inborn genetic diseases
- p.Thr72Ile Single submitter Inborn genetic diseases
- p.Trp162_Pro163insHisTrp Single submitter intellectual disability-strabismus syndrome
- p.Tyr293Asn Single submitter intellectual disability-strabismus syndrome
- p.Val142Met Single submitter Inborn genetic diseases
- p.Val214Met Single submitter intellectual disability-strabismus syndrome
- p.Val215Ile Single submitter Inborn genetic diseases
- p.Val276Ile Single submitter Inborn genetic diseases
- p.Val281Met Single submitter intellectual disability-strabismus syndrome
- p.Val302Met Single submitter Inborn genetic diseases
- p.Val47Asp Single submitter Inborn genetic diseases
- p.Pro119Leu No assertion criteria microcephaly