DIDO1 — 199 ClinVar variants

All ClinVar germline DIDO1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 157 flagged for review →

1 Conflicting · 10 Benign · 27 Likely benign · 161 Uncertain significance

Full DIDO1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 157

Variants where the independent computational evidence doesn't line up with the clinical picture — a QC signal for a second look, not a reclassification.

Predictors lean, ClinVar uncertain 142

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

Predictors split 15

The independent predictors disagree with each other — read with care.

All DIDO1 variants

Conflicting classifications of pathogenicity 1

p.Ser156= Single submitter

Benign 10

p.Asp1443= Multiple submitters
p.Glu1630Lys Multiple submitters
p.Leu1706Val Multiple submitters
p.Pro136= Multiple submitters
p.Ser537= Multiple submitters
p.Ser877= Multiple submitters
p.Thr1339Ser Multiple submitters
p.Asn267= Single submitter
p.Gly1717Asp Single submitter
p.Ser1040= Single submitter

Likely benign 27

p.Glu1498Ala Multiple submitters
p.Pro616Leu Multiple submitters
p.Ala1294= Single submitter
p.Ala242Val Single submitter
p.Ala577= Single submitter
p.Ala578= Single submitter
p.Ala620Val Single submitter
p.Ala81Val Single submitter
p.Arg995Lys Single submitter
p.Asn2080Ser Single submitter
p.Glu1429= Single submitter
p.Gly298= Single submitter
p.Gly311= Single submitter
p.Gly456Ser Single submitter
p.Ile1033Val Single submitter
p.Lys722= Single submitter
p.Met991Val Single submitter
p.Phe628Leu Single submitter
p.Pro896Leu Single submitter
p.Pro999Leu Single submitter
p.Ser152= Single submitter
p.Ser1616Phe Single submitter
p.Ser2194= Single submitter
p.Ser504= Single submitter
p.Thr1570= Single submitter
p.Thr208Ala Single submitter
p.Thr531Met Single submitter

Uncertain significance 161

p.Ala1067Thr Single submitter ⚠
p.Ala107Thr Single submitter ⚠
p.Ala1098Thr Single submitter ⚠
p.Ala268Thr Single submitter ⚠
p.Ala268Val Single submitter ⚠
p.Ala374Gly Single submitter ⚠
p.Ala40Thr Single submitter ⚠
p.Ala43Gly Single submitter ⚠
p.Ala43Thr Single submitter ⚠
p.Ala43Val Single submitter ⚠
p.Ala471Pro Single submitter ⚠
p.Ala487Val Single submitter ⚠
p.Ala521Thr Single submitter ⚠
p.Ala541Val Single submitter ⚠
p.Ala551Ser Single submitter ⚠
p.Ala582Thr Single submitter ⚠
p.Ala602Thr Single submitter ⚠
p.Ala621Val Single submitter ⚠
p.Ala624Pro Single submitter ⚠
p.Ala632Gly Single submitter ⚠
p.Ala649Thr Single submitter ⚠
p.Ala661Thr Single submitter ⚠
p.Ala752Val Single submitter ⚠
p.Ala775Val Single submitter ⚠
p.Ala876Gly Single submitter ⚠
p.Ala876Val Single submitter ⚠
p.Ala971Ser Single submitter ⚠
p.Ala971Thr Single submitter ⚠
p.Ala982Thr Single submitter ⚠
p.Arg1039His Single submitter ⚠
p.Arg135Gln Single submitter ⚠
p.Arg167His Single submitter ⚠
p.Arg172Gln Single submitter ⚠
p.Arg172Trp Single submitter ⚠
p.Arg189Gln Single submitter ⚠
p.Arg192His Single submitter ⚠
p.Arg193Gln Single submitter ⚠
p.Arg193Trp Single submitter ⚠
p.Arg256Gln Single submitter ⚠
p.Arg274His Single submitter ⚠
p.Arg287Cys Single submitter ⚠
p.Arg30Gln Single submitter ⚠
p.Arg488Gln Single submitter ⚠
p.Arg488Trp Single submitter ⚠
p.Arg535Trp Single submitter ⚠
p.Arg73Cys Single submitter ⚠
p.Arg743His Single submitter
p.Arg985Cys Single submitter ⚠
p.Asn1032Asp Single submitter ⚠
p.Asn687Asp Single submitter ⚠
p.Asn697Ser Single submitter ⚠
p.Asn787Tyr Single submitter ⚠
p.Asn9Ile Single submitter ⚠
p.Asp106Gly Single submitter ⚠
p.Asp149Asn Single submitter ⚠
p.Asp207Asn Single submitter ⚠
p.Asp222Tyr Single submitter ⚠
p.Asp232Glu Single submitter ⚠
p.Asp349Asn Single submitter ⚠
p.Asp363His Single submitter ⚠
p.Asp3Asn Single submitter ⚠
p.Asp409Gly Single submitter ⚠
p.Asp534Asn Single submitter ⚠
p.Asp801His Single submitter ⚠
p.Asp850Asn Single submitter ⚠
p.Asp865Val Single submitter ⚠
p.Asp882Asn Single submitter ⚠
p.Asp95Ala Single submitter ⚠
p.Gln165Arg Single submitter ⚠
p.Gln358His Single submitter ⚠
p.Gln715Arg Single submitter ⚠
p.Gln872Leu Single submitter ⚠
p.Glu10Asp Single submitter ⚠
p.Glu1731Lys Single submitter ⚠
p.Glu175Gly Single submitter ⚠
p.Glu249Gly Single submitter ⚠
p.Glu803Asp Single submitter ⚠
p.Glu866Asp Single submitter ⚠
p.Glu905Gly Single submitter ⚠
p.Glu98Lys Single submitter ⚠
p.Gly1575Arg Single submitter ⚠
p.Gly1890Ala Single submitter ⚠
p.Gly196Cys Single submitter ⚠
p.Gly294Ser Single submitter ⚠
p.Gly615Arg Single submitter ⚠
p.Gly65Arg Single submitter ⚠
p.His1123Gln Single submitter ⚠
p.His329Arg Single submitter ⚠
p.His404Tyr Single submitter ⚠
p.His887Arg Single submitter ⚠
p.Ile1134Leu Single submitter ⚠
p.Ile321Val Single submitter ⚠
p.Ile463Val Single submitter ⚠
p.Ile80Val Single submitter ⚠
p.Leu1053Phe Single submitter ⚠
p.Leu1566Gln Single submitter ⚠
p.Leu1831Phe Single submitter ⚠
p.Leu656Val Single submitter ⚠
p.Lys1325Gln Single submitter ⚠
p.Lys141Met Single submitter ⚠
p.Lys162Arg Single submitter ⚠
p.Lys171Arg Single submitter ⚠
p.Lys191Asn Single submitter ⚠
p.Lys2167Met Single submitter ⚠
p.Lys231Glu Single submitter ⚠
p.Lys258Gln Single submitter ⚠
p.Lys420Arg Single submitter ⚠
p.Lys518Glu Single submitter ⚠
p.Lys791Glu Single submitter ⚠
p.Met443Ile Single submitter ⚠
p.Met779Ile Single submitter ⚠
p.Pro1009Arg Single submitter ⚠
p.Pro1169Ser Single submitter ⚠
p.Pro1176Ser Single submitter ⚠
p.Pro1185Leu Single submitter ⚠
p.Pro2099Leu Single submitter ⚠
p.Pro408Arg Single submitter ⚠
p.Pro437Ala Single submitter ⚠
p.Pro470Thr Single submitter ⚠
p.Pro50Leu Single submitter ⚠
p.Pro51Leu Single submitter ⚠
p.Pro51Ser Single submitter ⚠
p.Pro524Leu Single submitter ⚠
p.Pro616Arg Single submitter ⚠
p.Pro618Ser Single submitter ⚠
p.Pro822Ser Single submitter ⚠
p.Pro933Ser Single submitter ⚠
p.Pro942Leu Single submitter ⚠
p.Ser114Gly Single submitter ⚠
p.Ser1165Arg Single submitter ⚠
p.Ser1165Gly Single submitter ⚠
p.Ser1788Phe Single submitter ⚠
p.Ser206Asn Single submitter ⚠
p.Ser625Tyr Single submitter ⚠
p.Ser809Leu Single submitter
p.Ser890Cys Single submitter ⚠
p.Ser955Asn Single submitter ⚠
p.Ser96Phe Single submitter ⚠
p.Ser974fs Single submitter
p.Thr1004Asn Single submitter ⚠
p.Thr1004Ile Single submitter ⚠
p.Thr332Met Single submitter ⚠
p.Thr348Ile Single submitter ⚠
p.Thr622Met Single submitter ⚠
p.Thr695Arg Single submitter
p.Thr79Ser Single submitter ⚠
p.Thr927Ala Single submitter ⚠
p.Trp340Gly Single submitter ⚠
p.Val1170Phe Single submitter ⚠
p.Val1231Ile Single submitter ⚠
p.Val201Met Single submitter ⚠
p.Val405Ala Single submitter ⚠
p.Val479Glu Single submitter ⚠
p.Val567Met Single submitter ⚠
p.Val686Ile Single submitter ⚠
p.Val744Ile Single submitter ⚠
p.Val763Ile Single submitter ⚠
p.Val832Ile Single submitter ⚠
p.Val958Ile Single submitter ⚠
p.Val961Ile Single submitter ⚠
p.Val979Met Single submitter ⚠