AGXT — 957 ClinVar variants
All ClinVar germline AGXT variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 212 flagged for review →
159 Pathogenic · 52 Pathogenic/Likely pathogenic · 102 Likely pathogenic · 38 Conflicting · 47 Benign · 12 Benign/Likely benign · 357 Likely benign · 190 Uncertain significance
Full AGXT gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 212
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 20
ClinVar calls these pathogenic, but the computational predictors lean tolerated — the highest-value review flag.
-
AGXT p.Arg36Cys
Pathogenic
Multiple submitters
primary hyperoxaluria type 1
-
AGXT p.Arg36His
Pathogenic/Likely pathogenic
Multiple submitters
primary hyperoxaluria
-
AGXT p.Gly41Val
Pathogenic/Likely pathogenic
Multiple submitters
primary hyperoxaluria type 1
-
AGXT p.Ala213Val
Likely pathogenic
Single submitter
primary hyperoxaluria type 1
-
AGXT p.Arg118His
Likely pathogenic
Single submitter
primary hyperoxaluria type 1
- AGXT p.Arg36Gly Likely pathogenic Single submitter
-
AGXT p.Asp374His
Pathogenic
Single submitter
primary hyperoxaluria type 1
- AGXT p.Gly156Ala Likely pathogenic Single submitter
- AGXT p.Gly190Ala Likely pathogenic Single submitter
-
AGXT p.Ile220Phe
Pathogenic
Single submitter
primary hyperoxaluria type 1
-
AGXT p.Ala368Thr
Pathogenic
No assertion criteria
primary hyperoxaluria type 1
-
AGXT p.Glu141Asp
Pathogenic
No assertion criteria
primary hyperoxaluria type 1
-
AGXT p.Gly199Ser
Pathogenic/Likely pathogenic
No assertion criteria
primary hyperoxaluria type 1
-
AGXT p.Gly349Ser
Pathogenic
No assertion criteria
primary hyperoxaluria type 1
-
AGXT p.Gly42Glu
Pathogenic
No assertion criteria
primary hyperoxaluria type 1
-
AGXT p.Leu153Val
Pathogenic
No assertion criteria
primary hyperoxaluria type 1
-
AGXT p.Leu316Pro
Pathogenic
No assertion criteria
primary hyperoxaluria type 1
-
AGXT p.Met195Leu
Pathogenic
No assertion criteria
primary hyperoxaluria type 1
-
AGXT p.Pro10Ser
Pathogenic
No assertion criteria
primary hyperoxaluria type 1
-
AGXT p.Pro319Leu
Pathogenic
No assertion criteria
primary hyperoxaluria type 1
Predictors agree, ClinVar conflicts 11
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
-
AGXT p.Arg381Lys
Conflicting
Single submitter
alanine glyoxylate aminotransferase deficiency
- AGXT p.Asn72Asp Conflicting Single submitter
-
AGXT p.Asn72Lys
Conflicting
Single submitter
primary hyperoxaluria type 1
-
AGXT p.Asp201Asn
Conflicting
Single submitter
primary hyperoxaluria type 1
-
AGXT p.Asp341Glu
Conflicting
Single submitter
Inborn genetic diseases
-
AGXT p.Cys173Arg
Conflicting
Single submitter
primary hyperoxaluria type 1
-
AGXT p.Glu274Asp
Conflicting
Single submitter
primary hyperoxaluria type 1
-
AGXT p.Gly63Asp
Conflicting
Single submitter
primary hyperoxaluria type 1
-
AGXT p.Leu384Pro
Conflicting
Single submitter
primary hyperoxaluria type 1
-
AGXT p.Lys12Arg
Conflicting
Single submitter
Inborn genetic diseases
-
AGXT p.Ser187Tyr
Conflicting
Single submitter
primary hyperoxaluria type 1
Predictors lean, ClinVar uncertain 67
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
-
AGXT p.Ala213Thr
Uncertain significance
Multiple submitters
primary hyperoxaluria type 1
-
AGXT p.Ala328Thr
Uncertain significance
Multiple submitters
primary hyperoxaluria type 1
-
AGXT p.Ala382Val
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
AGXT p.Arg317Pro
Uncertain significance
Multiple submitters
primary hyperoxaluria type 1
-
AGXT p.Leu24Ile
Uncertain significance
Multiple submitters
primary hyperoxaluria type 1
-
AGXT p.Val266Ile
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
AGXT p.Ala13Pro
Uncertain significance
Single submitter
Inborn genetic diseases
-
AGXT p.Ala2Thr
Uncertain significance
Single submitter
primary hyperoxaluria type 1
-
AGXT p.Ala325Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
AGXT p.Ala328Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
AGXT p.Arg118Pro
Uncertain significance
Single submitter
primary hyperoxaluria type 1
-
AGXT p.Arg122Gln
Uncertain significance
Single submitter
Inborn genetic diseases
-
AGXT p.Arg258Ser
Uncertain significance
Single submitter
primary hyperoxaluria type 1
-
AGXT p.Asn32Lys
Uncertain significance
Single submitter
Inborn genetic diseases
- AGXT p.Asp129Asn Uncertain significance Single submitter
-
AGXT p.Asp196Glu
Uncertain significance
Single submitter
primary hyperoxaluria type 1
-
AGXT p.Gln137Lys
Uncertain significance
Single submitter
Inborn genetic diseases
- AGXT p.Gln164Arg Uncertain significance Single submitter
-
AGXT p.Gln385Lys
Uncertain significance
Single submitter
Inborn genetic diseases
-
AGXT p.Gln65Arg
Uncertain significance
Single submitter
primary hyperoxaluria type 1
- AGXT p.Glu274Lys Uncertain significance Single submitter
-
AGXT p.Glu62Ala
Uncertain significance
Single submitter
primary hyperoxaluria type 1
-
AGXT p.Glu95Asp
Uncertain significance
Single submitter
primary hyperoxaluria type 1
-
AGXT p.Glu95Val
Uncertain significance
Single submitter
primary hyperoxaluria type 1
- AGXT p.Gly103Trp Uncertain significance Single submitter
-
AGXT p.Gly106Asp
Uncertain significance
Single submitter
primary hyperoxaluria type 1
-
AGXT p.Gly132Asp
Uncertain significance
Single submitter
primary hyperoxaluria type 1
-
AGXT p.Gly156Glu
Uncertain significance
Single submitter
primary hyperoxaluria type 1
-
AGXT p.Gly27Glu
Uncertain significance
Single submitter
primary hyperoxaluria type 1
-
AGXT p.Gly349Asp
Uncertain significance
Single submitter
primary hyperoxaluria type 1
- AGXT p.Gly365Val Uncertain significance Single submitter
- AGXT p.His291Gln Uncertain significance Single submitter
- AGXT p.Ile119Val Uncertain significance Single submitter
-
AGXT p.Ile264Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
AGXT p.Ile267Phe
Uncertain significance
Single submitter
primary hyperoxaluria type 1
-
AGXT p.Ile340Thr
Uncertain significance
Single submitter
primary hyperoxaluria type 1
-
AGXT p.Ile345Val
Uncertain significance
Single submitter
primary hyperoxaluria type 1
- AGXT p.Leu166His Uncertain significance Single submitter
-
AGXT p.Leu166Pro
Uncertain significance
Single submitter
primary hyperoxaluria type 1
-
AGXT p.Leu179Pro
Uncertain significance
Single submitter
primary hyperoxaluria type 1
- AGXT p.Leu247Arg Uncertain significance Single submitter
-
AGXT p.Leu272Pro
Uncertain significance
Single submitter
primary hyperoxaluria type 1
-
AGXT p.Leu276Gln
Uncertain significance
Single submitter
primary hyperoxaluria type 1
- AGXT p.Leu33Met Uncertain significance Single submitter
-
AGXT p.Met126Ile
Uncertain significance
Single submitter
Inborn genetic diseases
-
AGXT p.Met259Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
AGXT p.Phe169Ser
Uncertain significance
Single submitter
primary hyperoxaluria type 1
- AGXT p.Phe68Ser Uncertain significance Single submitter
- AGXT p.Pro215Ala Uncertain significance Single submitter
- AGXT p.Ser205Trp Uncertain significance Single submitter
-
AGXT p.Ser354Thr
Uncertain significance
Single submitter
primary hyperoxaluria type 1
-
AGXT p.Thr191Ile
Uncertain significance
Single submitter
primary hyperoxaluria type 1
-
AGXT p.Thr355Lys
Uncertain significance
Single submitter
Inborn genetic diseases
-
AGXT p.Thr355Met
Uncertain significance
Single submitter
Inborn genetic diseases
-
AGXT p.Thr75Lys
Uncertain significance
Single submitter
primary hyperoxaluria type 1
- AGXT p.Val102Phe Uncertain significance Single submitter
-
AGXT p.Val123Glu
Uncertain significance
Single submitter
primary hyperoxaluria type 1
-
AGXT p.Val311Met
Uncertain significance
Single submitter
primary hyperoxaluria type 1
- AGXT p.Val321Phe Uncertain significance Single submitter
-
AGXT p.Val336Ile
Uncertain significance
Single submitter
primary hyperoxaluria type 1
-
AGXT p.Val339Ile
Uncertain significance
Single submitter
primary hyperoxaluria type 1
-
AGXT p.Gly189Asp
Uncertain significance
No assertion criteria
primary hyperoxaluria type 1
-
AGXT p.Ile107Met
Uncertain significance
No assertion criteria
primary hyperoxaluria type 1
-
AGXT p.Ile244Met
Uncertain significance
No assertion criteria
primary hyperoxaluria type 1
-
AGXT p.Ile264Asn
Uncertain significance
No assertion criteria
primary hyperoxaluria type 1
-
AGXT p.Thr127Pro
Uncertain significance
No assertion criteria
primary hyperoxaluria type 1
-
AGXT p.Thr323Ile
Uncertain significance
No assertion criteria
primary hyperoxaluria type 1
Predictors split 114
The independent predictors disagree with each other — read with care.
-
AGXT p.Ala280Val
Benign/Likely benign
Multiple submitters
primary hyperoxaluria type 1
-
AGXT p.Ala295Thr
Benign/Likely benign
Multiple submitters
primary hyperoxaluria type 1
-
AGXT p.Ala296Val
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
AGXT p.Ala89Thr
Uncertain significance
Multiple submitters
primary hyperoxaluria type 1
-
AGXT p.Arg111Gln
Pathogenic/Likely pathogenic
Multiple submitters
primary hyperoxaluria type 1
-
AGXT p.Arg233Cys
Pathogenic/Likely pathogenic
Multiple submitters
primary hyperoxaluria
-
AGXT p.Arg233His
Pathogenic/Likely pathogenic
Multiple submitters
primary hyperoxaluria type 1
-
AGXT p.Arg289Cys
Uncertain significance
Multiple submitters
primary hyperoxaluria type 1
-
AGXT p.Arg317Gln
Uncertain significance
Multiple submitters
primary hyperoxaluria type 1
-
AGXT p.Asp129His
Uncertain significance
Multiple submitters
primary hyperoxaluria type 1
-
AGXT p.Asp255Asn
Uncertain significance
Multiple submitters
primary hyperoxaluria type 1
-
AGXT p.Gln164Leu
Uncertain significance
Multiple submitters
primary hyperoxaluria type 1
-
AGXT p.Gly161Ser
Pathogenic
Multiple submitters
primary hyperoxaluria
-
AGXT p.Gly170Arg
Pathogenic/Likely pathogenic
Multiple submitters
primary hyperoxaluria
-
AGXT p.Gly41Arg
Pathogenic/Likely pathogenic
Multiple submitters
primary hyperoxaluria type 1
-
AGXT p.Gly47Arg
Pathogenic
Multiple submitters
primary hyperoxaluria type 1
-
AGXT p.Ile244Thr
Pathogenic
Multiple submitters
primary hyperoxaluria
-
AGXT p.Pro11Ala
Uncertain significance
Multiple submitters
primary hyperoxaluria type 1
-
AGXT p.Pro11Arg
Pathogenic/Likely pathogenic
Multiple submitters
Inborn genetic diseases
-
AGXT p.Pro11Ser
Uncertain significance
Multiple submitters
alanine glyoxylate aminotransferase deficiency
-
AGXT p.Pro237Leu
Uncertain significance
Multiple submitters
primary hyperoxaluria type 1
-
AGXT p.Pro28Ser
Uncertain significance
Multiple submitters
primary hyperoxaluria type 1
-
AGXT p.Pro96Ala
Uncertain significance
Multiple submitters
primary hyperoxaluria type 1
-
AGXT p.Ser205Leu
Pathogenic
Multiple submitters
primary hyperoxaluria
-
AGXT p.Ser81Leu
Pathogenic/Likely pathogenic
Multiple submitters
Inborn genetic diseases
- AGXT p.Thr235Met Uncertain significance Multiple submitters
-
AGXT p.Thr377Met
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
AGXT p.Tyr270Cys
Uncertain significance
Multiple submitters
primary hyperoxaluria type 1
-
AGXT p.Val162Met
Uncertain significance
Multiple submitters
primary hyperoxaluria type 1
-
AGXT p.Val326Ile
Benign
Multiple submitters
primary hyperoxaluria type 1
-
AGXT p.Ala226Thr
Uncertain significance
Single submitter
primary hyperoxaluria type 1
-
AGXT p.Ala248Ser
Conflicting
Single submitter
Inborn genetic diseases
-
AGXT p.Ala248Val
Conflicting
Single submitter
Inborn genetic diseases
-
AGXT p.Ala315Thr
Uncertain significance
Single submitter
primary hyperoxaluria type 1
-
AGXT p.Ala382Thr
Uncertain significance
Single submitter
primary hyperoxaluria type 1
-
AGXT p.Ala88Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
AGXT p.Arg118Cys
Conflicting
Single submitter
primary hyperoxaluria type 1
-
AGXT p.Arg197Trp
Uncertain significance
Single submitter
Inborn genetic diseases
-
AGXT p.Arg289His
Conflicting
Single submitter
alanine glyoxylate aminotransferase deficiency
-
AGXT p.Arg301Cys
Uncertain significance
Single submitter
primary hyperoxaluria type 1
-
AGXT p.Arg301Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
AGXT p.Arg317Trp
Conflicting
Single submitter
primary hyperoxaluria type 1
- AGXT p.Arg36Pro Likely pathogenic Single submitter
-
AGXT p.Arg370His
Uncertain significance
Single submitter
Inborn genetic diseases
-
AGXT p.Arg375His
Uncertain significance
Single submitter
primary hyperoxaluria type 1
-
AGXT p.Asn72His
Conflicting
Single submitter
primary hyperoxaluria type 1
-
AGXT p.Asn92Ser
Uncertain significance
Single submitter
primary hyperoxaluria type 1
-
AGXT p.Asp254Ala
Uncertain significance
Single submitter
primary hyperoxaluria type 1
-
AGXT p.Asp58Asn
Uncertain significance
Single submitter
primary hyperoxaluria type 1
-
AGXT p.Asp58Glu
Uncertain significance
Single submitter
primary hyperoxaluria type 1
-
AGXT p.Cys387Gly
Uncertain significance
Single submitter
Inborn genetic diseases
-
AGXT p.Gln198Pro
Pathogenic
Single submitter
primary hyperoxaluria type 1
- AGXT p.Gln208Glu Uncertain significance Single submitter
-
AGXT p.Gln282Arg
Uncertain significance
Single submitter
primary hyperoxaluria type 1
-
AGXT p.Gln282His
Uncertain significance
Single submitter
primary hyperoxaluria type 1
-
AGXT p.Glu140Lys
Uncertain significance
Single submitter
primary hyperoxaluria type 1
- AGXT p.Glu293Lys Uncertain significance Single submitter
-
AGXT p.Glu346Lys
Uncertain significance
Single submitter
primary hyperoxaluria type 1
-
AGXT p.Glu371Lys
Conflicting
Single submitter
primary hyperoxaluria type 1
-
AGXT p.Glu59Lys
Uncertain significance
Single submitter
primary hyperoxaluria type 1
-
AGXT p.Gly120Arg
Conflicting
Single submitter
primary hyperoxaluria type 1
-
AGXT p.Gly131Arg
Uncertain significance
Single submitter
primary hyperoxaluria type 1
- AGXT p.Gly190Val Likely pathogenic Single submitter
-
AGXT p.Gly29Ser
Uncertain significance
Single submitter
primary hyperoxaluria type 1
-
AGXT p.Gly350Ser
Conflicting
Single submitter
primary hyperoxaluria type 1
-
AGXT p.Gly362Ser
Conflicting
Single submitter
primary hyperoxaluria
- AGXT p.Gly365Ser Uncertain significance Single submitter
-
AGXT p.Gly41Glu
Conflicting
Single submitter
primary hyperoxaluria
-
AGXT p.Gly42Arg
Uncertain significance
Single submitter
primary hyperoxaluria type 1
-
AGXT p.Gly80Ala
Uncertain significance
Single submitter
primary hyperoxaluria type 1
-
AGXT p.Gly82Ala
Likely pathogenic
Single submitter
primary hyperoxaluria
- AGXT p.Gly97Arg Uncertain significance Single submitter
-
AGXT p.His146Arg
Uncertain significance
Single submitter
primary hyperoxaluria type 1
- AGXT p.His291Arg Uncertain significance Single submitter
-
AGXT p.Ile107Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
AGXT p.Ile200Val
Conflicting
Single submitter
Inborn genetic diseases
-
AGXT p.Ile244Asn
Pathogenic
Single submitter
primary hyperoxaluria type 1
-
AGXT p.Ile279Thr
Conflicting
Single submitter
primary hyperoxaluria type 1
-
AGXT p.Ile56Asn
Conflicting
Single submitter
primary hyperoxaluria
-
AGXT p.Ile64Phe
Conflicting
Single submitter
primary hyperoxaluria type 1
-
AGXT p.Leu18Phe
Uncertain significance
Single submitter
primary hyperoxaluria type 1
-
AGXT p.Lys234Arg
Uncertain significance
Single submitter
primary hyperoxaluria type 1
- AGXT p.Phe152Ser Uncertain significance Single submitter
-
AGXT p.Pro10Ala
Uncertain significance
Single submitter
primary hyperoxaluria type 1
-
AGXT p.Pro10Thr
Uncertain significance
Single submitter
primary hyperoxaluria type 1
-
AGXT p.Pro11His
Conflicting
Single submitter
alanine glyoxylate aminotransferase deficiency
-
AGXT p.Pro314Leu
Uncertain significance
Single submitter
primary hyperoxaluria type 1
- AGXT p.Pro34Ser Uncertain significance Single submitter
-
AGXT p.Pro35Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
AGXT p.Pro35His
Uncertain significance
Single submitter
Inborn genetic diseases
-
AGXT p.Ser184Leu
Uncertain significance
Single submitter
primary hyperoxaluria type 1
-
AGXT p.Ser287Gly
Uncertain significance
Single submitter
Inborn genetic diseases
-
AGXT p.Tyr194Cys
Uncertain significance
Single submitter
Inborn genetic diseases
-
AGXT p.Val139Gly
Uncertain significance
Single submitter
Inborn genetic diseases
-
AGXT p.Val139Met
Uncertain significance
Single submitter
Inborn genetic diseases
-
AGXT p.Val376Met
Uncertain significance
Single submitter
Inborn genetic diseases
-
AGXT p.Val8Leu
Uncertain significance
Single submitter
primary hyperoxaluria type 1
- AGXT p.Val8Met Uncertain significance Single submitter
-
AGXT p.Ala210Pro
Pathogenic
No assertion criteria
primary hyperoxaluria type 1
-
AGXT p.Arg273Lys
Uncertain significance
No assertion criteria
primary hyperoxaluria type 1
-
AGXT p.Asp114Gly
Uncertain significance
No assertion criteria
primary hyperoxaluria type 1
-
AGXT p.Glu138Val
Uncertain significance
No assertion criteria
primary hyperoxaluria type 1
-
AGXT p.Gly41Trp
Likely pathogenic
No assertion criteria
primary hyperoxaluria type 1
-
AGXT p.Gly42Val
Uncertain significance
No assertion criteria
primary hyperoxaluria type 1
-
AGXT p.Ile279Met
Uncertain significance
No assertion criteria
primary hyperoxaluria type 1
-
AGXT p.Leu25Arg
Pathogenic
No assertion criteria
primary hyperoxaluria type 1
-
AGXT p.Leu284Pro
Pathogenic
No assertion criteria
primary hyperoxaluria type 1
-
AGXT p.Leu392Val
Uncertain significance
No assertion criteria
primary hyperoxaluria type 1
-
AGXT p.Leu43Pro
Uncertain significance
No assertion criteria
AGXT-related disorder
-
AGXT p.Met195Val
Uncertain significance
No assertion criteria
primary hyperoxaluria type 1
-
AGXT p.Ser99Cys
Uncertain significance
No assertion criteria
primary hyperoxaluria type 1
-
AGXT p.Ser99Tyr
Uncertain significance
No assertion criteria
primary hyperoxaluria type 1
-
AGXT p.Val358Leu
Uncertain significance
No assertion criteria
primary hyperoxaluria type 1
-
AGXT p.Val376Leu
Uncertain significance
No assertion criteria
primary hyperoxaluria type 1
All AGXT variants
Pathogenic 159
- c.166-1_172dup Multiple submitters primary hyperoxaluria type 1
- c.358+1G>A Multiple submitters primary hyperoxaluria type 1
- c.359-1_382del Multiple submitters primary hyperoxaluria type 1
- c.525-1G>A Multiple submitters primary hyperoxaluria type 1
- c.595+1G>T Multiple submitters primary hyperoxaluria type 1
- c.596-2A>G Multiple submitters primary hyperoxaluria type 1
- c.679_680+2del Multiple submitters primary hyperoxaluria type 1
- c.776+1G>A Multiple submitters primary hyperoxaluria type 1
- c.777-1G>C Multiple submitters primary hyperoxaluria
- c.846+1G>T Multiple submitters primary hyperoxaluria
- p.Arg111Ter Multiple submitters primary hyperoxaluria
- p.Arg122Ter Multiple submitters primary hyperoxaluria type 1
- p.Arg333Ter Multiple submitters primary hyperoxaluria type 1
- p.Arg36Cys Multiple submitters primary hyperoxaluria type 1 ⚠
- p.Asp201Glu Multiple submitters primary hyperoxaluria type 1
- p.Asp243fs Multiple submitters primary hyperoxaluria type 1
- p.Gln110fs Multiple submitters primary hyperoxaluria type 1
- p.Gln208Ter Multiple submitters primary hyperoxaluria
- p.Gly161Ser Multiple submitters primary hyperoxaluria ⚠
- p.Gly190Arg Multiple submitters primary hyperoxaluria type 1
- p.Gly47Arg Multiple submitters primary hyperoxaluria type 1 ⚠
- p.Gly63Arg Multiple submitters primary hyperoxaluria
- p.Gly82Arg Multiple submitters primary hyperoxaluria type 1
- p.Gly82Glu Multiple submitters primary hyperoxaluria
- p.Ile244Thr Multiple submitters primary hyperoxaluria ⚠
- p.Leu151fs Multiple submitters primary hyperoxaluria
- p.Leu193fs Multiple submitters primary hyperoxaluria
- p.Lys245fs Multiple submitters primary hyperoxaluria type 1
- p.Met1Asn Multiple submitters primary hyperoxaluria type 1
- p.Phe152Ile Multiple submitters primary hyperoxaluria
- p.Ser187Phe Multiple submitters primary hyperoxaluria
- p.Ser205Leu Multiple submitters primary hyperoxaluria ⚠
- p.Ser218Leu Multiple submitters primary hyperoxaluria type 1
- p.Thr191fs Multiple submitters primary hyperoxaluria
- p.Trp332Ter Multiple submitters primary hyperoxaluria type 1
- p.Val324fs Multiple submitters primary hyperoxaluria type 1
- p.Val326fs Multiple submitters primary hyperoxaluria
- c.1_524del Single submitter primary hyperoxaluria type 1
- c.1_595del Single submitter primary hyperoxaluria type 1
- c.1072_1079del Single submitter primary hyperoxaluria type 1
- c.358+1G>T Single submitter primary hyperoxaluria type 1
- c.358+2T>G Single submitter primary hyperoxaluria type 1
- c.525-2A>G Single submitter
- c.595+1G>C Single submitter primary hyperoxaluria type 1
- c.595+2T>G Single submitter primary hyperoxaluria type 1
- c.596-1G>A Single submitter primary hyperoxaluria type 1
- c.680+1G>T Single submitter primary hyperoxaluria type 1
- c.680+480_776+69delinsTGAGA Single submitter primary hyperoxaluria type 1
- c.776+1G>C Single submitter primary hyperoxaluria type 1
- c.776+2T>G Single submitter primary hyperoxaluria type 1
- c.777-1G>T Single submitter primary hyperoxaluria type 1
- c.846+1G>A Single submitter primary hyperoxaluria type 1
- p.Ala277fs Single submitter primary hyperoxaluria type 1
- p.Asn286fs Single submitter
- p.Asp254fs Single submitter
- p.Asp374His Single submitter primary hyperoxaluria type 1 ⚠
- p.Cys173Ter Single submitter primary hyperoxaluria
- p.Gln145Ter Single submitter primary hyperoxaluria type 1
- p.Gln198Pro Single submitter primary hyperoxaluria type 1 ⚠
- p.Gln23Ter Single submitter
- p.Gln256fs Single submitter primary hyperoxaluria type 1
- p.Gln303Ter Single submitter primary hyperoxaluria type 1
- p.Gln385Ter Single submitter
- p.Gln44Ter Single submitter primary hyperoxaluria type 1
- p.Gln65Ter Single submitter primary hyperoxaluria type 1
- p.Glu117fs Single submitter primary hyperoxaluria type 1
- p.Glu157fs Single submitter primary hyperoxaluria type 1
- p.Glu157Ter Single submitter primary hyperoxaluria type 1
- p.Glu281Ter Single submitter
- p.Glu378fs Single submitter
- p.Glu59Ter Single submitter
- p.Glu95Lys Single submitter primary hyperoxaluria type 1
- p.Gly116Trp Single submitter primary hyperoxaluria type 1
- p.Gly329fs Single submitter
- p.Gly82fs Single submitter primary hyperoxaluria type 1
- p.Ile220Phe Single submitter primary hyperoxaluria type 1 ⚠
- p.Ile244Asn Single submitter primary hyperoxaluria type 1 ⚠
- p.Leu14fs Single submitter primary hyperoxaluria type 1
- p.Leu153Ter Single submitter primary hyperoxaluria type 1
- p.Leu278fs Single submitter
- p.Leu74fs Single submitter
- p.Lys12fs Single submitter
- p.Lys177Ter Single submitter
- p.Lys209fs Single submitter
- p.Lys225Ter Single submitter
- p.Lys228fs Single submitter primary hyperoxaluria type 1
- p.Pro10fs Single submitter primary hyperoxaluria type 1
- p.Pro215fs Single submitter primary hyperoxaluria type 1
- p.Ser158fs Single submitter
- p.Ser158Ter Single submitter primary hyperoxaluria type 1
- p.Ser184Ter Single submitter primary hyperoxaluria type 1
- p.Ser187_Leu188insVal Single submitter primary hyperoxaluria type 1
- p.Ser223fs Single submitter
- p.Ser239del Single submitter primary hyperoxaluria type 1
- p.Ser275fs Single submitter
- p.Thr75fs Single submitter primary hyperoxaluria type 1
- p.Trp108Ter Single submitter primary hyperoxaluria type 1
- p.Trp251Ter Single submitter primary hyperoxaluria type 1
- p.Tyr134Ter Single submitter primary hyperoxaluria type 1
- p.Tyr231Ter Single submitter primary hyperoxaluria type 1
- p.Tyr297Ter Single submitter primary hyperoxaluria type 1
- p.Tyr66Ter Single submitter primary hyperoxaluria type 1
- p.Val266fs Single submitter
- p.Val321fs Single submitter
- c.1071+1G>A No assertion criteria primary hyperoxaluria type 1
- c.1072-2A>G No assertion criteria primary hyperoxaluria type 1
- c.166-1G>A No assertion criteria primary hyperoxaluria type 1
- c.424-2A>G No assertion criteria primary hyperoxaluria type 1
- c.680+5G>C No assertion criteria primary hyperoxaluria type 1
- c.846+646_942+139del No assertion criteria primary hyperoxaluria type 1
- c.943-1G>A No assertion criteria primary hyperoxaluria type 1
- p.Ala186_Ser187delinsAspArg No assertion criteria primary hyperoxaluria type 1
- p.Ala210Pro No assertion criteria primary hyperoxaluria type 1 ⚠
- p.Ala304fs No assertion criteria primary hyperoxaluria type 1
- p.Ala368Thr No assertion criteria primary hyperoxaluria type 1 ⚠
- p.Ala383Asp No assertion criteria primary hyperoxaluria type 1
- p.Ala85Asp No assertion criteria primary hyperoxaluria type 1
- p.Asn249fs No assertion criteria primary hyperoxaluria type 1
- p.Asn72fs No assertion criteria primary hyperoxaluria type 1
- p.Asn92fs No assertion criteria primary hyperoxaluria type 1
- p.Asp243His No assertion criteria primary hyperoxaluria type 1
- p.Gln137fs No assertion criteria primary hyperoxaluria type 1
- p.Gln137Ter No assertion criteria primary hyperoxaluria type 1
- p.Gln282Ter No assertion criteria primary hyperoxaluria type 1
- p.Gln308Ter No assertion criteria primary hyperoxaluria type 1
- p.Gln69Ter No assertion criteria primary hyperoxaluria type 1
- p.Glu117Ter No assertion criteria primary hyperoxaluria type 1
- p.Glu141Asp No assertion criteria primary hyperoxaluria type 1 ⚠
- p.Glu285Ter No assertion criteria primary hyperoxaluria type 1
- p.Gly109Val No assertion criteria primary hyperoxaluria type 1
- p.Gly170fs No assertion criteria primary hyperoxaluria type 1
- p.Gly349Ser No assertion criteria primary hyperoxaluria type 1 ⚠
- p.Gly42Glu No assertion criteria primary hyperoxaluria type 1 ⚠
- p.His124Pro No assertion criteria primary hyperoxaluria type 1
- p.His261Gln No assertion criteria primary hyperoxaluria type 1
- p.Ile267fs No assertion criteria primary hyperoxaluria type 1
- p.Ile279fs No assertion criteria primary hyperoxaluria type 1
- p.Leu150Pro No assertion criteria primary hyperoxaluria type 1
- p.Leu153Val No assertion criteria primary hyperoxaluria type 1 ⚠
- p.Leu25Arg No assertion criteria primary hyperoxaluria type 1 ⚠
- p.Leu26Pro No assertion criteria primary hyperoxaluria type 1
- p.Leu284Pro No assertion criteria primary hyperoxaluria type 1 ⚠
- p.Leu307fs No assertion criteria primary hyperoxaluria type 1
- p.Leu316Pro No assertion criteria primary hyperoxaluria type 1 ⚠
- p.Met195Leu No assertion criteria primary hyperoxaluria type 1 ⚠
- p.Met1Ile No assertion criteria primary hyperoxaluria type 1
- p.Pro10Ser No assertion criteria primary hyperoxaluria type 1 ⚠
- p.Pro28fs No assertion criteria primary hyperoxaluria type 1
- p.Pro319Leu No assertion criteria primary hyperoxaluria type 1 ⚠
- p.Ser205Ter No assertion criteria primary hyperoxaluria type 1
- p.Ser221Pro No assertion criteria primary hyperoxaluria type 1
- p.Ser287Thr No assertion criteria primary hyperoxaluria type 1
- p.Ser81Ter No assertion criteria primary hyperoxaluria type 1
- p.Thr154fs No assertion criteria primary hyperoxaluria type 1
- p.Thr320fs No assertion criteria primary hyperoxaluria type 1
- p.Tyr204Ter No assertion criteria primary hyperoxaluria type 1
- p.Tyr338Ter No assertion criteria primary hyperoxaluria type 1
- p.Val149fs No assertion criteria primary hyperoxaluria type 1
- p.Val376fs No assertion criteria primary hyperoxaluria type 1
Pathogenic/Likely pathogenic 52
- c.423+1G>A Multiple submitters primary hyperoxaluria type 1
- c.525-2A>T Multiple submitters primary hyperoxaluria type 1
- c.680+1G>A Multiple submitters primary hyperoxaluria
- c.680+2T>A Multiple submitters primary hyperoxaluria type 1
- c.847-1G>C Multiple submitters primary hyperoxaluria
- c.847-3C>G Multiple submitters primary hyperoxaluria type 1
- c.942+1G>A Multiple submitters primary hyperoxaluria type 1
- c.942+1G>T Multiple submitters primary hyperoxaluria type 1
- c.943-1G>T Multiple submitters primary hyperoxaluria type 1
- p.Ala112Asp Multiple submitters primary hyperoxaluria
- p.Ala325fs Multiple submitters primary hyperoxaluria type 1
- p.Ala40fs Multiple submitters primary hyperoxaluria
- p.Ala85fs Multiple submitters primary hyperoxaluria type 1
- p.Arg111Gln Multiple submitters primary hyperoxaluria type 1 ⚠
- p.Arg233Cys Multiple submitters primary hyperoxaluria ⚠
- p.Arg233His Multiple submitters primary hyperoxaluria type 1 ⚠
- p.Arg360Gln Multiple submitters primary hyperoxaluria type 1
- p.Arg360Trp Multiple submitters primary hyperoxaluria type 1
- p.Arg36His Multiple submitters primary hyperoxaluria ⚠
- p.Asn72Ile Multiple submitters primary hyperoxaluria type 1
- p.Cys173_His174delinsTrpAsn Multiple submitters primary hyperoxaluria type 1
- p.Cys178Tyr Multiple submitters primary hyperoxaluria type 1
- p.Cys253Arg Multiple submitters primary hyperoxaluria type 1
- p.Cys387Ter Multiple submitters primary hyperoxaluria type 1
- p.Gln145fs Multiple submitters primary hyperoxaluria type 1
- p.Gln164Ter Multiple submitters primary hyperoxaluria type 1
- p.Gly116Arg Multiple submitters primary hyperoxaluria type 1
- p.Gly156Arg Multiple submitters primary hyperoxaluria type 1
- p.Gly161Cys Multiple submitters primary hyperoxaluria type 1
- p.Gly170Arg Multiple submitters primary hyperoxaluria ⚠
- p.Gly216Arg Multiple submitters primary hyperoxaluria type 1
- p.Gly350Asp Multiple submitters primary hyperoxaluria type 1
- p.Gly41Arg Multiple submitters primary hyperoxaluria type 1 ⚠
- p.Gly41Val Multiple submitters primary hyperoxaluria type 1 ⚠
- p.Leu101Pro Multiple submitters primary hyperoxaluria type 1
- p.Leu269Pro Multiple submitters primary hyperoxaluria
- p.Leu43fs Multiple submitters primary hyperoxaluria
- p.Lys225fs Multiple submitters primary hyperoxaluria type 1
- p.Met195Arg Multiple submitters primary hyperoxaluria type 1
- p.Met1Thr Multiple submitters primary hyperoxaluria
- p.Pro11Arg Multiple submitters Inborn genetic diseases ⚠
- p.Pro125fs Multiple submitters primary hyperoxaluria type 1
- p.Ser158Leu Multiple submitters primary hyperoxaluria type 1
- p.Ser205Pro Multiple submitters primary hyperoxaluria type 1
- p.Ser81Leu Multiple submitters Inborn genetic diseases ⚠
- p.Trp108Arg Multiple submitters primary hyperoxaluria type 1
- p.Trp246Ter Multiple submitters primary hyperoxaluria type 1
- p.Trp332fs Multiple submitters primary hyperoxaluria type 1
- p.Tyr270fs Multiple submitters primary hyperoxaluria type 1
- p.Val336Asp Multiple submitters primary hyperoxaluria type 1
- p.Gly199Ser No assertion criteria primary hyperoxaluria type 1 ⚠
- p.Val77fs No assertion criteria primary hyperoxaluria type 1
Likely pathogenic 102
- c.1072-1G>A Multiple submitters primary hyperoxaluria type 1
- c.359-2A>G Multiple submitters primary hyperoxaluria type 1
- c.424-66_425del Multiple submitters primary hyperoxaluria type 1
- c.524+2T>A Multiple submitters primary hyperoxaluria type 1
- c.681-1G>A Multiple submitters primary hyperoxaluria type 1
- c.777-2A>G Multiple submitters primary hyperoxaluria type 1
- p.Gly161Asp Multiple submitters primary hyperoxaluria type 1
- p.His261Asp Multiple submitters primary hyperoxaluria type 1
- p.Ser223Arg Multiple submitters primary hyperoxaluria type 1
- p.Val139del Multiple submitters primary hyperoxaluria type 1
- c.165+1G>T Single submitter primary hyperoxaluria
- c.166-11_166-8delinsTGCATGCAAGAT Single submitter primary hyperoxaluria type 1
- c.359-1G>A Single submitter
- c.423+2T>C Single submitter primary hyperoxaluria type 1
- c.524+1G>A Single submitter
- c.524+1G>T Single submitter primary hyperoxaluria type 1
- c.595+1G>A Single submitter primary hyperoxaluria type 1
- c.595+2T>A Single submitter
- c.595+2T>C Single submitter primary hyperoxaluria type 1
- c.680+1G>C Single submitter primary hyperoxaluria type 1
- c.848del Single submitter primary hyperoxaluria type 1
- p.Ala13fs Single submitter primary hyperoxaluria type 1
- p.Ala213Asp Single submitter primary hyperoxaluria type 1
- p.Ala213Val Single submitter primary hyperoxaluria type 1 ⚠
- p.Ala280fs Single submitter primary hyperoxaluria type 1
- p.Ala328_Tyr330delinsAsp Single submitter primary hyperoxaluria type 1
- p.Arg118His Single submitter primary hyperoxaluria type 1 ⚠
- p.Arg118Ser Single submitter primary hyperoxaluria type 1
- p.Arg233Leu Single submitter primary hyperoxaluria type 1
- p.Arg36Gly Single submitter ⚠
- p.Arg36Pro Single submitter ⚠
- p.Asp129fs Single submitter primary hyperoxaluria type 1
- p.Asp183Asn Single submitter primary hyperoxaluria type 1
- p.Asp201Val Single submitter primary hyperoxaluria type 1
- p.Asp98His Single submitter primary hyperoxaluria type 1
- p.Cys173Tyr Single submitter primary hyperoxaluria type 1
- p.Cys178Trp Single submitter primary hyperoxaluria type 1
- p.Cys84Ter Single submitter primary hyperoxaluria type 1
- p.Glu138Ter Single submitter primary hyperoxaluria type 1
- p.Glu157Gln Single submitter primary hyperoxaluria type 1
- p.Glu87fs Single submitter primary hyperoxaluria type 1
- p.Glu95Ter Single submitter primary hyperoxaluria type 1
- p.Gly103Arg Single submitter
- p.Gly109Glu Single submitter primary hyperoxaluria type 1
- p.Gly120Ter Single submitter primary hyperoxaluria type 1
- p.Gly156Ala Single submitter ⚠
- p.Gly156Trp Single submitter primary hyperoxaluria type 1
- p.Gly161Arg Single submitter primary hyperoxaluria type 1
- p.Gly190Ala Single submitter ⚠
- p.Gly190Glu Single submitter
- p.Gly190Val Single submitter ⚠
- p.Gly27Trp Single submitter primary hyperoxaluria type 1
- p.Gly350Val Single submitter primary hyperoxaluria type 1
- p.Gly365fs Single submitter primary hyperoxaluria type 1
- p.Gly47Glu Single submitter primary hyperoxaluria type 1
- p.Gly47Trp Single submitter
- p.Gly80fs Single submitter primary hyperoxaluria type 1
- p.Gly82Ala Single submitter primary hyperoxaluria ⚠
- p.His83Arg Single submitter primary hyperoxaluria
- p.Ile200fs Single submitter primary hyperoxaluria type 1
- p.Ile202Asn Single submitter primary hyperoxaluria
- p.Ile64Asn Single submitter primary hyperoxaluria type 1
- p.Leu179fs Single submitter primary hyperoxaluria type 1
- p.Leu180Arg Single submitter primary hyperoxaluria type 1
- p.Leu211Arg Single submitter primary hyperoxaluria type 1
- p.Leu276Glu Single submitter primary hyperoxaluria type 1
- p.Leu298Pro Single submitter primary hyperoxaluria
- p.Leu359Pro Single submitter primary hyperoxaluria type 1
- p.Leu90fs Single submitter primary hyperoxaluria type 1
- p.Leu94fs Single submitter primary hyperoxaluria type 1
- p.Lys147Ter Single submitter primary hyperoxaluria type 1
- p.Lys209Asn Single submitter primary hyperoxaluria type 1
- p.Lys229del Single submitter primary hyperoxaluria type 1
- p.Lys236Ter Single submitter primary hyperoxaluria type 1
- p.Lys312Ter Single submitter primary hyperoxaluria type 1
- p.Met195Ile Single submitter
- p.Phe152Cys Single submitter
- p.Pro11fs Single submitter primary hyperoxaluria type 1
- p.Pro130fs Single submitter primary hyperoxaluria type 1
- p.Ser218Ter Single submitter primary hyperoxaluria type 1
- p.Ser275Arg Single submitter cardiac rhythm disease
- p.Ser275Asn Single submitter primary hyperoxaluria type 1
- p.Ser275Ile Single submitter
- p.Ser81Trp Single submitter primary hyperoxaluria type 1
- p.Thr217fs Single submitter primary hyperoxaluria type 1
- p.Thr70Asn Single submitter primary hyperoxaluria type 1
- p.Trp108Cys Single submitter primary hyperoxaluria type 1
- p.Trp251Arg Single submitter
- p.Trp251fs Single submitter primary hyperoxaluria type 1
- p.Trp251Lys Single submitter primary hyperoxaluria type 1
- p.Tyr176Ter Single submitter primary hyperoxaluria type 1
- p.Tyr194fs Single submitter primary hyperoxaluria type 1
- p.Tyr260Cys Single submitter primary hyperoxaluria type 1
- p.Val102_Gly103insValLeuVal Single submitter primary hyperoxaluria type 1
- p.Val102Asp Single submitter primary hyperoxaluria type 1
- p.Val8Asp Single submitter primary hyperoxaluria type 1
- c.681-1G>T No assertion criteria primary hyperoxaluria type 1
- c.847-2_847-1del No assertion criteria primary hyperoxaluria type 1
- p.Arg360Pro No assertion criteria nephrolithiasis
- p.Gly41Trp No assertion criteria primary hyperoxaluria type 1 ⚠
- p.His291Pro No assertion criteria primary hyperoxaluria type 1
- p.Trp288Ter No assertion criteria nephrotic syndrome
Conflicting classifications of pathogenicity 38
- c.1071+12C>T Single submitter primary hyperoxaluria type 1
- c.1071+13G>A Single submitter primary hyperoxaluria type 1
- c.165+12G>C Single submitter primary hyperoxaluria type 1
- p.Ala248Ser Single submitter Inborn genetic diseases ⚠
- p.Ala248Val Single submitter Inborn genetic diseases ⚠
- p.Ala295= Single submitter primary hyperoxaluria type 1
- p.Ala296del Single submitter primary hyperoxaluria type 1
- p.Arg118Cys Single submitter primary hyperoxaluria type 1 ⚠
- p.Arg289His Single submitter alanine glyoxylate aminotransferase deficiency ⚠
- p.Arg317Trp Single submitter primary hyperoxaluria type 1 ⚠
- p.Arg381Lys Single submitter alanine glyoxylate aminotransferase deficiency ⚠
- p.Asn72Asp Single submitter ⚠
- p.Asn72His Single submitter primary hyperoxaluria type 1 ⚠
- p.Asn72Lys Single submitter primary hyperoxaluria type 1 ⚠
- p.Asp201Asn Single submitter primary hyperoxaluria type 1 ⚠
- p.Asp341Glu Single submitter Inborn genetic diseases ⚠
- p.Cys173Arg Single submitter primary hyperoxaluria type 1 ⚠
- p.Glu274Asp Single submitter primary hyperoxaluria type 1 ⚠
- p.Glu371Lys Single submitter primary hyperoxaluria type 1 ⚠
- p.Glu95dup Single submitter primary hyperoxaluria type 1
- p.Gly120Arg Single submitter primary hyperoxaluria type 1 ⚠
- p.Gly170= Single submitter primary hyperoxaluria type 1
- p.Gly350Ser Single submitter primary hyperoxaluria type 1 ⚠
- p.Gly362Ser Single submitter primary hyperoxaluria ⚠
- p.Gly41Glu Single submitter primary hyperoxaluria ⚠
- p.Gly63Asp Single submitter primary hyperoxaluria type 1 ⚠
- p.Ile200Val Single submitter Inborn genetic diseases ⚠
- p.Ile279Thr Single submitter primary hyperoxaluria type 1 ⚠
- p.Ile56Asn Single submitter primary hyperoxaluria ⚠
- p.Ile64Phe Single submitter primary hyperoxaluria type 1 ⚠
- p.Leu242= Single submitter primary hyperoxaluria type 1
- p.Leu384Pro Single submitter primary hyperoxaluria type 1 ⚠
- p.Lys12Arg Single submitter Inborn genetic diseases ⚠
- p.Phe310= Single submitter primary hyperoxaluria type 1
- p.Pro11His Single submitter alanine glyoxylate aminotransferase deficiency ⚠
- p.Ser187Tyr Single submitter primary hyperoxaluria type 1 ⚠
- p.Ser221del Single submitter alanine glyoxylate aminotransferase deficiency
- p.Thr355= Single submitter primary hyperoxaluria type 1
Benign 47
- c.165+16A>G Multiple submitters primary hyperoxaluria type 1
- c.165+58_165+59insACGGAAGAGGGGAGGGGTCACTGCTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATC Multiple submitters
- c.166-57_166-56insTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATCGTGGACGAGGGAAGGGGGTCACTGC Multiple submitters
- c.358+13C>T Multiple submitters primary hyperoxaluria type 1
- c.358+163G>T Multiple submitters primary hyperoxaluria type 1
- c.359-163C>T Multiple submitters
- c.423+29C>T Multiple submitters primary hyperoxaluria type 1
- c.423+45T>G Multiple submitters primary hyperoxaluria type 1
- c.424-16G>A Multiple submitters primary hyperoxaluria type 1
- c.524+91C>T Multiple submitters primary hyperoxaluria type 1
- c.595+100G>A Multiple submitters primary hyperoxaluria type 1
- c.595+151G>A Multiple submitters
- c.595+231G>C Multiple submitters
- c.680+17C>T Multiple submitters primary hyperoxaluria type 1
- c.776+69C>T Multiple submitters
- c.777-44A>G Multiple submitters primary hyperoxaluria type 1
- c.777-45C>T Multiple submitters primary hyperoxaluria type 1
- c.846+170C>T Multiple submitters primary hyperoxaluria type 1
- c.846+199G>A Multiple submitters primary hyperoxaluria type 1
- c.846+52G>A Multiple submitters primary hyperoxaluria type 1
- c.847-83G>T Multiple submitters primary hyperoxaluria type 1
- c.942+127C>T Multiple submitters primary hyperoxaluria type 1
- c.*289A>C Multiple submitters primary hyperoxaluria type 1
- c.*41C>A Multiple submitters primary hyperoxaluria type 1
- p.Ala88= Multiple submitters primary hyperoxaluria type 1
- p.Asn22Ser Multiple submitters primary hyperoxaluria type 1
- p.Ser218= Multiple submitters primary hyperoxaluria type 1
- p.Val326Ile Multiple submitters primary hyperoxaluria type 1 ⚠
- c.1071+163A>G Single submitter
- c.1072-114G>A Single submitter
- c.1072-204C>T Single submitter
- c.1072-219C>G Single submitter
- c.1072-3del Single submitter
- c.1072-3dup Single submitter
- c.165+15_166-18dup Single submitter
- c.166-48_166-47ins74 Single submitter
- c.358+56_358+64del Single submitter primary hyperoxaluria type 1
- c.525-216G>A Single submitter
- c.525-68T>G Single submitter
- c.596-208C>T Single submitter
- c.680+130C>T Single submitter primary hyperoxaluria type 1
- c.680+204C>G Single submitter
- c.777-14dup Single submitter
- c.777-77G>A Single submitter
- c.942+13dup Single submitter
- c.943-117C>T Single submitter primary hyperoxaluria type 1
- c.943-167G>T Single submitter
Benign/Likely benign 12
- c.166-14C>T Multiple submitters primary hyperoxaluria type 1
- c.942+12C>G Multiple submitters primary hyperoxaluria type 1
- c.-23G>A Multiple submitters primary hyperoxaluria type 1
- p.Ala186Val Multiple submitters primary hyperoxaluria type 1
- p.Ala280Val Multiple submitters primary hyperoxaluria type 1 ⚠
- p.Ala295Thr Multiple submitters primary hyperoxaluria type 1 ⚠
- p.Arg197Gln Multiple submitters primary hyperoxaluria type 1
- p.Ile244= Multiple submitters primary hyperoxaluria type 1
- p.Ile340Met Multiple submitters primary hyperoxaluria type 1
- p.Met49Leu Multiple submitters primary hyperoxaluria type 1
- p.Thr235= Multiple submitters primary hyperoxaluria type 1
- p.Thr9Asn Multiple submitters primary hyperoxaluria type 1
Likely benign 357
Showing the top 300 by review status; the full set is in the sitemap.
- c.165+40A>C Multiple submitters primary hyperoxaluria type 1
- c.423+12G>A Multiple submitters primary hyperoxaluria type 1
- c.424-4T>C Multiple submitters primary hyperoxaluria type 1
- c.595+150C>T Multiple submitters
- c.596-10C>T Multiple submitters primary hyperoxaluria type 1
- c.596-7T>C Multiple submitters primary hyperoxaluria type 1
- c.681-94G>A Multiple submitters primary hyperoxaluria type 1
- c.777-17C>A Multiple submitters primary hyperoxaluria type 1
- p.Ala296= Multiple submitters primary hyperoxaluria type 1
- p.Asp254= Multiple submitters primary hyperoxaluria type 1
- p.Asp334= Multiple submitters primary hyperoxaluria type 1
- p.Ile220= Multiple submitters primary hyperoxaluria type 1
- p.Leu163= Multiple submitters primary hyperoxaluria type 1
- p.Leu302= Multiple submitters
- p.Leu392= Multiple submitters primary hyperoxaluria type 1
- p.Phe169= Multiple submitters
- p.Pro327= Multiple submitters primary hyperoxaluria type 1
- p.Ser81= Multiple submitters primary hyperoxaluria type 1
- p.Thr9= Multiple submitters primary hyperoxaluria type 1
- c.1071+12C>A Single submitter
- c.1071+13G>C Single submitter
- c.1071+13G>T Single submitter
- c.1071+14C>A Single submitter
- c.1071+17C>T Single submitter
- c.1071+18G>A Single submitter
- c.1071+18G>T Single submitter
- c.1071+7G>A Single submitter
- c.1071+8G>A Single submitter
- c.1071+9G>A Single submitter primary hyperoxaluria type 1
- c.1072-16G>A Single submitter
- c.1072-16G>C Single submitter
- c.1072-16G>T Single submitter
- c.1072-17C>T Single submitter
- c.1072-17del Single submitter
- c.1072-4C>T Single submitter
- c.1072-5C>T Single submitter
- c.1072-6C>T Single submitter primary hyperoxaluria type 1
- c.1072-7C>G Single submitter
- c.1072-8C>T Single submitter
- c.1072-9G>A Single submitter
- c.165+10G>C Single submitter
- c.165+12G>A Single submitter
- c.165+16A>T Single submitter
- c.165+19_166-48dup Single submitter primary hyperoxaluria type 1
- c.165+19C>T Single submitter
- c.165+20G>A Single submitter
- c.165+8T>A Single submitter
- c.166-10C>A Single submitter
- c.166-15A>G Single submitter
- c.166-17A>T Single submitter
- c.166-8G>A Single submitter
- c.166-8G>T Single submitter
- c.166-9C>T Single submitter
- c.358+10A>T Single submitter
- c.358+12G>A Single submitter
- c.358+15C>T Single submitter
- c.358+18G>A Single submitter
- c.358+198G>C Single submitter
- c.358+19T>G Single submitter
- c.358+228C>G Single submitter
- c.359-10C>T Single submitter
- c.359-20C>T Single submitter
- c.359-6A>T Single submitter
- c.359-8G>A Single submitter
- c.359-8G>C Single submitter
- c.359-9del Single submitter
- c.423+11C>G Single submitter
- c.423+11C>T Single submitter
- c.423+14G>C Single submitter
- c.423+19G>C Single submitter
- c.423+7G>A Single submitter
- c.423+9C>G Single submitter
- c.423+9C>T Single submitter
- c.424-11del Single submitter
- c.424-12C>G Single submitter
- c.424-13C>T Single submitter
- c.424-17C>A Single submitter
- c.424-17C>G Single submitter
- c.424-17C>T Single submitter
- c.424-5C>T Single submitter
- c.424-9C>A Single submitter
- c.524+10G>A Single submitter
- c.524+11C>T Single submitter
- c.524+13C>G Single submitter
- c.524+15A>T Single submitter
- c.524+18G>A Single submitter
- c.524+19C>T Single submitter
- c.524+20G>A Single submitter
- c.524+8T>C Single submitter
- c.524+9G>T Single submitter
- c.525-11C>T Single submitter
- c.525-14C>A Single submitter
- c.525-19C>G Single submitter
- c.525-20T>C Single submitter
- c.525-6C>G Single submitter
- c.525-8C>T Single submitter
- c.595+11G>A Single submitter
- c.595+12C>T Single submitter
- c.595+14C>T Single submitter
- c.595+15T>C Single submitter
- c.595+16G>A Single submitter
- c.595+18G>A Single submitter
- c.595+7G>A Single submitter primary hyperoxaluria type 1
- c.596-10C>A Single submitter
- c.596-11C>A Single submitter
- c.596-12A>G Single submitter
- c.596-4A>G Single submitter
- c.596-8A>G Single submitter
- c.596-9C>T Single submitter
- c.680+12A>C Single submitter
- c.680+13C>G Single submitter
- c.680+7G>T Single submitter
- c.681-13T>C Single submitter
- c.681-13T>G Single submitter
- c.681-16G>A Single submitter
- c.681-18C>G Single submitter
- c.681-18C>T Single submitter
- c.681-20G>A Single submitter
- c.681-20G>C Single submitter
- c.681-8C>T Single submitter
- c.776+15G>A Single submitter
- c.776+16G>A Single submitter
- c.776+21del Single submitter
- c.776+7C>A Single submitter
- c.777-11G>A Single submitter
- c.777-11G>C Single submitter
- c.777-12C>T Single submitter
- c.777-14C>G Single submitter
- c.777-14C>T Single submitter
- c.777-15C>G Single submitter
- c.777-17C>G Single submitter
- c.777-17C>T Single submitter
- c.777-19G>A Single submitter
- c.777-302C>T Single submitter
- c.777-4C>G Single submitter
- c.777-57C>T Single submitter
- c.777-8T>C Single submitter
- c.777-9_777-8del Single submitter
- c.846+10C>T Single submitter
- c.846+11T>G Single submitter
- c.846+13C>T Single submitter
- c.846+16T>C Single submitter
- c.846+18C>T Single submitter
- c.847-11C>T Single submitter
- c.847-12T>A Single submitter
- c.847-13A>G Single submitter
- c.847-14del Single submitter
- c.847-16_847-9dup Single submitter
- c.847-16G>A Single submitter
- c.847-16G>C Single submitter
- c.847-16G>T Single submitter
- c.847-17C>T Single submitter
- c.847-5C>A Single submitter
- c.847-8C>T Single submitter
- c.942+10C>G Single submitter
- c.942+12C>T Single submitter
- c.942+13C>T Single submitter
- c.942+14T>C Single submitter
- c.942+16G>A Single submitter
- c.942+173C>T Single submitter
- c.942+174G>A Single submitter
- c.942+18A>G Single submitter
- c.942+19T>C Single submitter
- c.942+9G>A Single submitter
- c.943-10C>G Single submitter
- c.943-17C>A Single submitter
- c.943-18G>A Single submitter
- c.943-5T>C Single submitter
- c.943-6C>T Single submitter
- c.943-8T>C Single submitter
- c.-24C>G Single submitter primary hyperoxaluria type 1
- c.*19G>A Single submitter primary hyperoxaluria type 1
- p.Ala112= Single submitter
- p.Ala121= Single submitter primary hyperoxaluria type 1
- p.Ala13= Single submitter
- p.Ala210= Single submitter
- p.Ala277= Single submitter
- p.Ala280= Single submitter
- p.Ala294= Single submitter primary hyperoxaluria type 1
- p.Ala315= Single submitter
- p.Ala325= Single submitter
- p.Ala328= Single submitter
- p.Ala382= Single submitter
- p.Ala40= Single submitter
- p.Ala85= Single submitter
- p.Ala89= Single submitter
- p.Arg111= Single submitter
- p.Arg197= Single submitter
- p.Arg258= Single submitter
- p.Arg292= Single submitter
- p.Arg301= Single submitter
- p.Arg333= Single submitter
- p.Arg360= Single submitter
- p.Arg375= Single submitter
- p.Arg381= Single submitter
- p.Arg71= Single submitter
- p.Asn212= Single submitter
- p.Asn286= Single submitter
- p.Asn367= Single submitter
- p.Asn372= Single submitter
- p.Asn72= Single submitter
- p.Asn92= Single submitter
- p.Asp114= Single submitter
- p.Asp129= Single submitter
- p.Asp224= Single submitter
- p.Asp243= Single submitter
- p.Asp255= Single submitter
- p.Asp313= Single submitter
- p.Asp374= Single submitter
- p.Asp52= Single submitter
- p.Asp58= Single submitter
- p.Asp98= Single submitter
- p.Cys173= Single submitter
- p.Cys178= Single submitter
- p.Cys253= Single submitter
- p.Cys366= Single submitter
- p.Gln145= Single submitter
- p.Gln208= Single submitter
- p.Gln385= Single submitter
- p.Gln65= Single submitter
- p.Gln69= Single submitter
- p.Glu117= Single submitter
- p.Glu138= Single submitter
- p.Glu140= Single submitter
- p.Glu171= Single submitter
- p.Glu293= Single submitter
- p.Glu346= Single submitter
- p.Glu87= Single submitter
- p.Gly103= Single submitter
- p.Gly109= Single submitter
- p.Gly156= Single submitter
- p.Gly161= Single submitter
- p.Gly189= Single submitter
- p.Gly190= Single submitter
- p.Gly27= Single submitter
- p.Gly283= Single submitter
- p.Gly306= Single submitter
- p.Gly329= Single submitter
- p.Gly352= Single submitter
- p.Gly356= Single submitter
- p.Gly365= Single submitter
- p.Gly41= Single submitter
- p.Gly42= Single submitter
- p.Gly63= Single submitter
- p.Gly82= Single submitter
- p.Gly97= Single submitter
- p.His124= Single submitter
- p.His146= Single submitter
- p.His155= Single submitter
- p.His291= Single submitter
- p.His299= Single submitter
- p.His342= Single submitter
- p.His83= Single submitter
- p.Ile107= Single submitter
- p.Ile115= Single submitter
- p.Ile20= Single submitter
- p.Ile200= Single submitter
- p.Ile264= Single submitter
- p.Ile279= Single submitter
- p.Ile335= Single submitter
- p.Ile347= Single submitter
- p.Ile361= Single submitter
- p.Ile46= Single submitter
- p.Leu136= Single submitter
- p.Leu14= Single submitter
- p.Leu143= Single submitter
- p.Leu15= Single submitter
- p.Leu150= Single submitter primary hyperoxaluria type 1
- p.Leu166= Single submitter
- p.Leu179= Single submitter
- p.Leu18= Single submitter
- p.Leu181= Single submitter
- p.Leu203= Single submitter
- p.Leu24= Single submitter
- p.Leu247= Single submitter
- p.Leu25= Single submitter
- p.Leu26= Single submitter
- p.Leu269= Single submitter
- p.Leu276= Single submitter
- p.Leu278= Single submitter
- p.Leu284= Single submitter
- p.Leu298= Single submitter
- p.Leu307= Single submitter
- p.Leu309= Single submitter
- p.Leu33= Single submitter primary hyperoxaluria type 1
- p.Leu351= Single submitter
- p.Leu363= Single submitter
- p.Leu384= Single submitter
- p.Leu43Gln Single submitter
- p.Leu7= Single submitter
- p.Leu74= Single submitter
- p.Leu90= Single submitter
- p.Leu94= Single submitter
- p.Lys147= Single submitter
- p.Lys16= Single submitter
- p.Lys209= Single submitter
- p.Lys229= Single submitter
- p.Lys234= Single submitter
- p.Lys245= Single submitter
- p.Lys390= Single submitter primary hyperoxaluria type 1
Uncertain significance 190
- c.524+6C>A Multiple submitters primary hyperoxaluria type 1
- c.847-3C>T Multiple submitters Inborn genetic diseases
- p.Ala213Thr Multiple submitters primary hyperoxaluria type 1 ⚠
- p.Ala296Val Multiple submitters Inborn genetic diseases ⚠
- p.Ala328Thr Multiple submitters primary hyperoxaluria type 1 ⚠
- p.Ala382Val Multiple submitters Inborn genetic diseases ⚠
- p.Ala89Thr Multiple submitters primary hyperoxaluria type 1 ⚠
- p.Arg289Cys Multiple submitters primary hyperoxaluria type 1 ⚠
- p.Arg317Gln Multiple submitters primary hyperoxaluria type 1 ⚠
- p.Arg317Pro Multiple submitters primary hyperoxaluria type 1 ⚠
- p.Asp129His Multiple submitters primary hyperoxaluria type 1 ⚠
- p.Asp255Asn Multiple submitters primary hyperoxaluria type 1 ⚠
- p.Gln164Leu Multiple submitters primary hyperoxaluria type 1 ⚠
- p.Leu24Ile Multiple submitters primary hyperoxaluria type 1 ⚠
- p.Phe240del Multiple submitters primary hyperoxaluria type 1
- p.Pro11Ala Multiple submitters primary hyperoxaluria type 1 ⚠
- p.Pro11Ser Multiple submitters alanine glyoxylate aminotransferase deficiency ⚠
- p.Pro237Leu Multiple submitters primary hyperoxaluria type 1 ⚠
- p.Pro28Ser Multiple submitters primary hyperoxaluria type 1 ⚠
- p.Pro96Ala Multiple submitters primary hyperoxaluria type 1 ⚠
- p.Thr235Met Multiple submitters ⚠
- p.Thr377Met Multiple submitters Inborn genetic diseases ⚠
- p.Tyr270Cys Multiple submitters primary hyperoxaluria type 1 ⚠
- p.Val162Met Multiple submitters primary hyperoxaluria type 1 ⚠
- p.Val266Ile Multiple submitters Inborn genetic diseases ⚠
- c.165+15_165+16insTCGCTCGGGGGGCCTGGGTCTCACCCATGTTCCCACCCACAGATCGTGGACGTAGGGAAGGGGGTCACTGCTTCC Single submitter primary hyperoxaluria type 1
- c.165+44T>A Single submitter primary hyperoxaluria type 1
- c.166-3C>G Single submitter primary hyperoxaluria type 1
- c.166-56C>T Single submitter primary hyperoxaluria type 1
- c.524+3G>A Single submitter primary hyperoxaluria type 1
- c.680+3G>C Single submitter primary hyperoxaluria type 1
- c.681-459G>A Single submitter primary hyperoxaluria type 1
- c.777-4_777-3delinsTT Single submitter
- c.846+5A>G Single submitter primary hyperoxaluria type 1
- c.846+6T>C Single submitter
- c.942+14T>G Single submitter primary hyperoxaluria type 1
- c.942+3A>T Single submitter primary hyperoxaluria type 1
- c.-14G>A Single submitter primary hyperoxaluria type 1
- c.*160G>A Single submitter primary hyperoxaluria type 1
- c.*162A>G Single submitter primary hyperoxaluria type 1
- c.*194A>T Single submitter primary hyperoxaluria type 1
- c.*285G>A Single submitter primary hyperoxaluria type 1
- c.*52C>G Single submitter primary hyperoxaluria type 1
- p.Ala13Pro Single submitter Inborn genetic diseases ⚠
- p.Ala226Thr Single submitter primary hyperoxaluria type 1 ⚠
- p.Ala2Thr Single submitter primary hyperoxaluria type 1 ⚠
- p.Ala315Thr Single submitter primary hyperoxaluria type 1 ⚠
- p.Ala325Thr Single submitter Inborn genetic diseases ⚠
- p.Ala328Ser Single submitter Inborn genetic diseases ⚠
- p.Ala382Thr Single submitter primary hyperoxaluria type 1 ⚠
- p.Ala88Thr Single submitter Inborn genetic diseases ⚠
- p.Arg118Pro Single submitter primary hyperoxaluria type 1 ⚠
- p.Arg122Gln Single submitter Inborn genetic diseases ⚠
- p.Arg197Trp Single submitter Inborn genetic diseases ⚠
- p.Arg258Ser Single submitter primary hyperoxaluria type 1 ⚠
- p.Arg301Cys Single submitter primary hyperoxaluria type 1 ⚠
- p.Arg301Leu Single submitter Inborn genetic diseases ⚠
- p.Arg370His Single submitter Inborn genetic diseases ⚠
- p.Arg375His Single submitter primary hyperoxaluria type 1 ⚠
- p.Asn32Lys Single submitter Inborn genetic diseases ⚠
- p.Asn372fs Single submitter primary hyperoxaluria type 1
- p.Asn92Ser Single submitter primary hyperoxaluria type 1 ⚠
- p.Asp129Asn Single submitter ⚠
- p.Asp196Glu Single submitter primary hyperoxaluria type 1 ⚠
- p.Asp254Ala Single submitter primary hyperoxaluria type 1 ⚠
- p.Asp58Asn Single submitter primary hyperoxaluria type 1 ⚠
- p.Asp58Glu Single submitter primary hyperoxaluria type 1 ⚠
- p.Cys387Gly Single submitter Inborn genetic diseases ⚠
- p.Gln137Lys Single submitter Inborn genetic diseases ⚠
- p.Gln164Arg Single submitter ⚠
- p.Gln208Glu Single submitter ⚠
- p.Gln282Arg Single submitter primary hyperoxaluria type 1 ⚠
- p.Gln282His Single submitter primary hyperoxaluria type 1 ⚠
- p.Gln385Lys Single submitter Inborn genetic diseases ⚠
- p.Gln65Arg Single submitter primary hyperoxaluria type 1 ⚠
- p.Glu140Lys Single submitter primary hyperoxaluria type 1 ⚠
- p.Glu274Lys Single submitter ⚠
- p.Glu293Lys Single submitter ⚠
- p.Glu346Lys Single submitter primary hyperoxaluria type 1 ⚠
- p.Glu59Lys Single submitter primary hyperoxaluria type 1 ⚠
- p.Glu62Ala Single submitter primary hyperoxaluria type 1 ⚠
- p.Glu87_Leu90del Single submitter primary hyperoxaluria type 1
- p.Glu95Asp Single submitter primary hyperoxaluria type 1 ⚠
- p.Glu95Val Single submitter primary hyperoxaluria type 1 ⚠
- p.Gly103Trp Single submitter ⚠
- p.Gly106Asp Single submitter primary hyperoxaluria type 1 ⚠
- p.Gly131Arg Single submitter primary hyperoxaluria type 1 ⚠
- p.Gly132Asp Single submitter primary hyperoxaluria type 1 ⚠
- p.Gly156Glu Single submitter primary hyperoxaluria type 1 ⚠
- p.Gly27Glu Single submitter primary hyperoxaluria type 1 ⚠
- p.Gly29Ser Single submitter primary hyperoxaluria type 1 ⚠
- p.Gly349Asn Single submitter primary hyperoxaluria type 1
- p.Gly349Asp Single submitter primary hyperoxaluria type 1 ⚠
- p.Gly365Ser Single submitter ⚠
- p.Gly365Val Single submitter ⚠
- p.Gly42Arg Single submitter primary hyperoxaluria type 1 ⚠
- p.Gly80Ala Single submitter primary hyperoxaluria type 1 ⚠
- p.Gly97Arg Single submitter ⚠
- p.His146Arg Single submitter primary hyperoxaluria type 1 ⚠
- p.His291Arg Single submitter ⚠
- p.His291Gln Single submitter ⚠
- p.Ile107Thr Single submitter Inborn genetic diseases ⚠
- p.Ile119Val Single submitter ⚠
- p.Ile264Val Single submitter Inborn genetic diseases ⚠
- p.Ile267Phe Single submitter primary hyperoxaluria type 1 ⚠
- p.Ile340Thr Single submitter primary hyperoxaluria type 1 ⚠
- p.Ile345Val Single submitter primary hyperoxaluria type 1 ⚠
- p.Leu166His Single submitter ⚠
- p.Leu166Pro Single submitter primary hyperoxaluria type 1 ⚠
- p.Leu179Pro Single submitter primary hyperoxaluria type 1 ⚠
- p.Leu18Phe Single submitter primary hyperoxaluria type 1 ⚠
- p.Leu247Arg Single submitter ⚠
- p.Leu272Pro Single submitter primary hyperoxaluria type 1 ⚠
- p.Leu276Gln Single submitter primary hyperoxaluria type 1 ⚠
- p.Leu33Met Single submitter ⚠
- p.Lys234Arg Single submitter primary hyperoxaluria type 1 ⚠
- p.Lys390fs Single submitter
- p.Met126Ile Single submitter Inborn genetic diseases ⚠
- p.Met259Leu Single submitter Inborn genetic diseases ⚠
- p.Phe152Ser Single submitter ⚠
- p.Phe169Ser Single submitter primary hyperoxaluria type 1 ⚠
- p.Phe68Ser Single submitter ⚠
- p.Pro10Ala Single submitter primary hyperoxaluria type 1 ⚠
- p.Pro10Thr Single submitter primary hyperoxaluria type 1 ⚠
- p.Pro215Ala Single submitter ⚠
- p.Pro30_Met45delinsSerHisProCysSerHisProGln Single submitter Hyperoxaluria
- p.Pro314= Single submitter primary hyperoxaluria type 1
- p.Pro314Leu Single submitter primary hyperoxaluria type 1 ⚠
- p.Pro34Ser Single submitter ⚠
- p.Pro35Arg Single submitter Inborn genetic diseases ⚠
- p.Pro35His Single submitter Inborn genetic diseases ⚠
- p.Ser184Leu Single submitter primary hyperoxaluria type 1 ⚠
- p.Ser205Trp Single submitter ⚠
- p.Ser287Gly Single submitter Inborn genetic diseases ⚠
- p.Ser354Thr Single submitter primary hyperoxaluria type 1 ⚠
- p.Thr191Ile Single submitter primary hyperoxaluria type 1 ⚠
- p.Thr355Lys Single submitter Inborn genetic diseases ⚠
- p.Thr355Met Single submitter Inborn genetic diseases ⚠
- p.Thr75Lys Single submitter primary hyperoxaluria type 1 ⚠
- p.Tyr194Cys Single submitter Inborn genetic diseases ⚠
- p.Val102Phe Single submitter ⚠
- p.Val123Glu Single submitter primary hyperoxaluria type 1 ⚠
- p.Val139Gly Single submitter Inborn genetic diseases ⚠
- p.Val139Met Single submitter Inborn genetic diseases ⚠
- p.Val311Met Single submitter primary hyperoxaluria type 1 ⚠
- p.Val321Phe Single submitter ⚠
- p.Val336Ile Single submitter primary hyperoxaluria type 1 ⚠
- p.Val339Ile Single submitter primary hyperoxaluria type 1 ⚠
- p.Val376Met Single submitter Inborn genetic diseases ⚠
- p.Val8Leu Single submitter primary hyperoxaluria type 1 ⚠
- p.Val8Met Single submitter ⚠
- c.1072-91G>A No assertion criteria primary hyperoxaluria type 1
- c.166-47T>C No assertion criteria primary hyperoxaluria type 1
- c.166-54C>T No assertion criteria primary hyperoxaluria type 1
- c.166-57C>T No assertion criteria primary hyperoxaluria type 1
- c.423+36A>C No assertion criteria primary hyperoxaluria type 1
- c.424-12dup No assertion criteria primary hyperoxaluria type 1
- c.424-9C>T No assertion criteria primary hyperoxaluria type 1
- c.596-5T>C No assertion criteria primary hyperoxaluria type 1
- c.680+75G>A No assertion criteria primary hyperoxaluria type 1
- c.943-10C>T No assertion criteria primary hyperoxaluria type 1
- c.*1C>A No assertion criteria primary hyperoxaluria type 1
- c.*39G>A No assertion criteria primary hyperoxaluria type 1
- c.*8A>G No assertion criteria primary hyperoxaluria type 1
- p.Ala248= No assertion criteria primary hyperoxaluria type 1
- p.Ala383= No assertion criteria primary hyperoxaluria type 1
- p.Arg273Lys No assertion criteria primary hyperoxaluria type 1 ⚠
- p.Asp114Gly No assertion criteria primary hyperoxaluria type 1 ⚠
- p.Asp331= No assertion criteria primary hyperoxaluria type 1
- p.Gln164= No assertion criteria primary hyperoxaluria type 1
- p.Glu138Val No assertion criteria primary hyperoxaluria type 1 ⚠
- p.Gly116= No assertion criteria primary hyperoxaluria type 1
- p.Gly189Asp No assertion criteria primary hyperoxaluria type 1 ⚠
- p.Gly42Val No assertion criteria primary hyperoxaluria type 1 ⚠
- p.Ile107Met No assertion criteria primary hyperoxaluria type 1 ⚠
- p.Ile244Met No assertion criteria primary hyperoxaluria type 1 ⚠
- p.Ile264Asn No assertion criteria primary hyperoxaluria type 1 ⚠
- p.Ile279Met No assertion criteria primary hyperoxaluria type 1 ⚠
- p.Leu392Val No assertion criteria primary hyperoxaluria type 1 ⚠
- p.Leu43Pro No assertion criteria AGXT-related disorder ⚠
- p.Lys229dup No assertion criteria primary hyperoxaluria type 1
- p.Met195Val No assertion criteria primary hyperoxaluria type 1 ⚠
- p.Ser99Cys No assertion criteria primary hyperoxaluria type 1 ⚠
- p.Ser99Tyr No assertion criteria primary hyperoxaluria type 1 ⚠
- p.Thr127Pro No assertion criteria primary hyperoxaluria type 1 ⚠
- p.Thr323= No assertion criteria primary hyperoxaluria type 1
- p.Thr323Ile No assertion criteria primary hyperoxaluria type 1 ⚠
- p.Val102= No assertion criteria primary hyperoxaluria type 1
- p.Val358Leu No assertion criteria primary hyperoxaluria type 1 ⚠
- p.Val376Leu No assertion criteria primary hyperoxaluria type 1 ⚠