KMO — 51 ClinVar variants
All ClinVar germline KMO variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 42 flagged for review →
3 Benign · 5 Likely benign · 43 Uncertain significance
Full KMO gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 42
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 36
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- KMO p.Arg182Gly Uncertain significance Single submitter
- KMO p.Arg40Thr Uncertain significance Single submitter
- KMO p.Arg63Gln Uncertain significance Single submitter
- KMO p.Asn113His Uncertain significance Single submitter
- KMO p.Asn219Asp Uncertain significance Single submitter
- KMO p.Asn482His Uncertain significance Single submitter
- KMO p.Gln413Arg Uncertain significance Single submitter
- KMO p.Glu143Lys Uncertain significance Single submitter
- KMO p.His176Gln Uncertain significance Single submitter
- KMO p.His307Tyr Uncertain significance Single submitter
- KMO p.Ile106Thr Uncertain significance Single submitter
- KMO p.Ile14Val Uncertain significance Single submitter
- KMO p.Ile309Met Uncertain significance Single submitter
- KMO p.Ile365Thr Uncertain significance Single submitter
- KMO p.Leu149Val Uncertain significance Single submitter
- KMO p.Leu441Phe Uncertain significance Single submitter
- KMO p.Lys153Arg Uncertain significance Single submitter
- KMO p.Lys153Asn Uncertain significance Single submitter
- KMO p.Lys424Arg Uncertain significance Single submitter
- KMO p.Phe238Leu Uncertain significance Single submitter
- KMO p.Phe241Val Uncertain significance Single submitter
- KMO p.Phe244Ser Uncertain significance Single submitter
- KMO p.Pro311Leu Uncertain significance Single submitter
- KMO p.Ser151Tyr Uncertain significance Single submitter
- KMO p.Ser360Pro Uncertain significance Single submitter
- KMO p.Ser392Leu Uncertain significance Single submitter
- KMO p.Thr198Ser Uncertain significance Single submitter
- KMO p.Tyr105Cys Uncertain significance Single submitter
- KMO p.Tyr206His Uncertain significance Single submitter
- KMO p.Tyr212Cys Uncertain significance Single submitter
- KMO p.Tyr439His Uncertain significance Single submitter
- KMO p.Tyr444Cys Uncertain significance Single submitter
- KMO p.Val164Leu Uncertain significance Single submitter
- KMO p.Val288Ile Uncertain significance Single submitter
- KMO p.Val300Leu Uncertain significance Single submitter
- KMO p.Val5Ala Uncertain significance Single submitter
Predictors split 6
The independent predictors disagree with each other — read with care.
-
KMO p.Val253Met
Uncertain significance
Multiple submitters
KMO-related congenital malformation syndrome
- KMO p.Arg414Cys Uncertain significance Single submitter
- KMO p.Leu267Val Uncertain significance Single submitter
- KMO p.Pro200Ser Benign Single submitter
- KMO p.Pro262Leu Likely benign Single submitter
- KMO p.Ser404Cys Uncertain significance Single submitter
All KMO variants
Benign 3
- c.957+9T>A Multiple submitters
- p.Pro200Ser Single submitter ⚠
- p.Pro262= Single submitter
Likely benign 5
- p.Arg464Trp Single submitter
- p.Asn251Ser Single submitter
- p.Pro262Leu Single submitter ⚠
- p.Val254Ile Single submitter
- p.Thr234Ile No assertion criteria KMO-related disorder
Uncertain significance 43
- p.Val253Met Multiple submitters KMO-related congenital malformation syndrome ⚠
- c.223-1G>T Single submitter KMO-related congenital malformation syndrome
- p.Arg182Gly Single submitter ⚠
- p.Arg40Thr Single submitter ⚠
- p.Arg414Cys Single submitter ⚠
- p.Arg63Gln Single submitter ⚠
- p.Asn113His Single submitter ⚠
- p.Asn219Asp Single submitter ⚠
- p.Asn482His Single submitter ⚠
- p.Gln413Arg Single submitter ⚠
- p.Glu143Lys Single submitter ⚠
- p.His176Gln Single submitter ⚠
- p.His307Tyr Single submitter ⚠
- p.Ile106Thr Single submitter ⚠
- p.Ile106Val Single submitter
- p.Ile14Val Single submitter ⚠
- p.Ile309Met Single submitter ⚠
- p.Ile365Thr Single submitter ⚠
- p.Leu149Val Single submitter ⚠
- p.Leu267Val Single submitter ⚠
- p.Leu441Phe Single submitter ⚠
- p.Lys153Arg Single submitter ⚠
- p.Lys153Asn Single submitter ⚠
- p.Lys424Arg Single submitter ⚠
- p.Phe238Leu Single submitter ⚠
- p.Phe241Val Single submitter ⚠
- p.Phe244Ser Single submitter ⚠
- p.Pro311Leu Single submitter ⚠
- p.Ser151Tyr Single submitter ⚠
- p.Ser360Pro Single submitter ⚠
- p.Ser392Leu Single submitter ⚠
- p.Ser404Cys Single submitter ⚠
- p.Thr198Ser Single submitter ⚠
- p.Tyr105Cys Single submitter ⚠
- p.Tyr206His Single submitter ⚠
- p.Tyr212Cys Single submitter ⚠
- p.Tyr439His Single submitter ⚠
- p.Tyr444Cys Single submitter ⚠
- p.Val164Leu Single submitter ⚠
- p.Val288Ile Single submitter ⚠
- p.Val300Leu Single submitter ⚠
- p.Val5Ala Single submitter ⚠
- p.Met195fs No assertion criteria