HOGA1 — 559 ClinVar variants
All ClinVar germline HOGA1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 166 flagged for review →
34 Pathogenic · 29 Pathogenic/Likely pathogenic · 71 Likely pathogenic · 32 Conflicting · 18 Benign · 8 Benign/Likely benign · 196 Likely benign · 171 Uncertain significance
Full HOGA1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 166
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 17
ClinVar calls these pathogenic, but the computational predictors lean tolerated — the highest-value review flag.
-
HOGA1 p.Ala126Thr
Likely pathogenic
Multiple submitters
primary hyperoxaluria type 3
-
HOGA1 p.Arg271Cys
Pathogenic/Likely pathogenic
Multiple submitters
primary hyperoxaluria type 3
-
HOGA1 p.Arg271His
Pathogenic/Likely pathogenic
Multiple submitters
primary hyperoxaluria type 3
-
HOGA1 p.Arg281Trp
Likely pathogenic
Multiple submitters
primary hyperoxaluria type 3
-
HOGA1 p.Arg89His
Likely pathogenic
Multiple submitters
primary hyperoxaluria type 3
-
HOGA1 p.Arg97Cys
Pathogenic/Likely pathogenic
Multiple submitters
primary hyperoxaluria type 3
-
HOGA1 p.Arg97His
Pathogenic/Likely pathogenic
Multiple submitters
primary hyperoxaluria type 3
-
HOGA1 p.Gly325Ser
Pathogenic/Likely pathogenic
Multiple submitters
primary hyperoxaluria type 3
-
HOGA1 p.Pro190Leu
Pathogenic/Likely pathogenic
Multiple submitters
HOGA1-related disorders
-
HOGA1 p.Val245Ile
Pathogenic/Likely pathogenic
Multiple submitters
primary hyperoxaluria type 3
-
HOGA1 p.Arg282Cys
Likely pathogenic
Single submitter
primary hyperoxaluria type 3
- HOGA1 p.Gly325Asp Likely pathogenic Single submitter
- HOGA1 p.Leu220Phe Pathogenic Single submitter
-
HOGA1 p.Leu272Val
Likely pathogenic
Single submitter
primary hyperoxaluria type 3
- HOGA1 p.Pro190Ala Likely pathogenic Single submitter
- HOGA1 p.Pro190Ser Likely pathogenic Single submitter
-
HOGA1 p.Thr212Ala
Likely pathogenic
Single submitter
primary hyperoxaluria type 3
Predictors agree, ClinVar conflicts 17
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
-
HOGA1 p.Ala148Val
Conflicting
Single submitter
primary hyperoxaluria type 3
-
HOGA1 p.Ala312Thr
Conflicting
Single submitter
Inborn genetic diseases
-
HOGA1 p.Ala36Val
Conflicting
Single submitter
primary hyperoxaluria type 3
-
HOGA1 p.Arg282His
Conflicting
Single submitter
primary hyperoxaluria type 3
-
HOGA1 p.Arg303His
Conflicting
Single submitter
primary hyperoxaluria type 3
- HOGA1 p.Arg97Leu Conflicting Single submitter
-
HOGA1 p.Asn78Lys
Conflicting
Single submitter
primary hyperoxaluria type 3
-
HOGA1 p.Asp177Tyr
Conflicting
Single submitter
primary hyperoxaluria type 3
-
HOGA1 p.Gly111Arg
Conflicting
Single submitter
primary hyperoxaluria type 3
-
HOGA1 p.Gly129Arg
Conflicting
Single submitter
primary hyperoxaluria type 3
-
HOGA1 p.His62Leu
Conflicting
Single submitter
primary hyperoxaluria type 3
-
HOGA1 p.Leu150Phe
Conflicting
Single submitter
primary hyperoxaluria type 3
-
HOGA1 p.Leu178Gln
Conflicting
Single submitter
primary hyperoxaluria type 3
-
HOGA1 p.Met100Thr
Conflicting
Single submitter
primary hyperoxaluria type 3
-
HOGA1 p.Pro45Arg
Conflicting
Single submitter
primary hyperoxaluria type 3
-
HOGA1 p.Thr185Met
Conflicting
Single submitter
primary hyperoxaluria type 3
-
HOGA1 p.Thr259Met
Conflicting
Single submitter
primary hyperoxaluria type 3
Predictors lean, ClinVar uncertain 88
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
-
HOGA1 p.Ala132Val
Uncertain significance
Multiple submitters
primary hyperoxaluria type 3
-
HOGA1 p.Ala304Thr
Uncertain significance
Multiple submitters
primary hyperoxaluria type 3
-
HOGA1 p.Ala36Thr
Uncertain significance
Multiple submitters
primary hyperoxaluria type 3
-
HOGA1 p.Arg11Ser
Uncertain significance
Multiple submitters
primary hyperoxaluria type 3
-
HOGA1 p.Arg255Gln
Uncertain significance
Multiple submitters
primary hyperoxaluria type 3
-
HOGA1 p.Arg95Cys
Uncertain significance
Multiple submitters
primary hyperoxaluria type 3
-
HOGA1 p.Asp181His
Uncertain significance
Multiple submitters
primary hyperoxaluria type 3
-
HOGA1 p.Gln249Glu
Uncertain significance
Multiple submitters
primary hyperoxaluria type 3
-
HOGA1 p.Glu315Ala
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
HOGA1 p.Glu315Gly
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
HOGA1 p.Gly199Ser
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
HOGA1 p.Gly200Asp
Uncertain significance
Multiple submitters
primary hyperoxaluria type 3
-
HOGA1 p.Gly30Val
Uncertain significance
Multiple submitters
primary hyperoxaluria type 3
-
HOGA1 p.Leu288Arg
Uncertain significance
Multiple submitters
primary hyperoxaluria type 3
-
HOGA1 p.Ser110Phe
Uncertain significance
Multiple submitters
primary hyperoxaluria type 3
-
HOGA1 p.Ser223Leu
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
HOGA1 p.Thr115Ser
Uncertain significance
Multiple submitters
primary hyperoxaluria type 3
-
HOGA1 p.Thr122Ile
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
HOGA1 p.Trp7Ser
Uncertain significance
Multiple submitters
primary hyperoxaluria type 3
-
HOGA1 p.Val136Ala
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
HOGA1 p.Val180Met
Uncertain significance
Multiple submitters
primary hyperoxaluria type 3
- HOGA1 c.211+5280G>T Uncertain significance Single submitter
-
HOGA1 p.Ala117Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
HOGA1 p.Ala221Pro
Uncertain significance
Single submitter
primary hyperoxaluria type 3
-
HOGA1 p.Ala265Thr
Uncertain significance
Single submitter
primary hyperoxaluria type 3
-
HOGA1 p.Ala99Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
HOGA1 p.Arg144Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
HOGA1 p.Arg281Gln
Uncertain significance
Single submitter
primary hyperoxaluria type 3
- HOGA1 p.Arg318Ser Uncertain significance Single submitter
-
HOGA1 p.Arg70Gln
Uncertain significance
Single submitter
Inborn genetic diseases
-
HOGA1 p.Arg89Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
HOGA1 p.Asp201Asn
Uncertain significance
Single submitter
Inborn genetic diseases
- HOGA1 p.Asp264Val Uncertain significance Single submitter
- HOGA1 p.Cys112Trp Uncertain significance Single submitter
-
HOGA1 p.Cys258Arg
Uncertain significance
Single submitter
Inborn genetic diseases
- HOGA1 p.Gln215Arg Uncertain significance Single submitter
- HOGA1 p.Gln261Lys Uncertain significance Single submitter
-
HOGA1 p.Glu113Gln
Uncertain significance
Single submitter
primary hyperoxaluria type 3
-
HOGA1 p.Glu51Asp
Uncertain significance
Single submitter
primary hyperoxaluria type 3
-
HOGA1 p.Glu80Lys
Uncertain significance
Single submitter
primary hyperoxaluria type 3
-
HOGA1 p.Gly199Arg
Uncertain significance
Single submitter
Inborn genetic diseases
- HOGA1 p.Gly23Glu Uncertain significance Single submitter
-
HOGA1 p.Gly300Asp
Uncertain significance
Single submitter
Inborn genetic diseases
-
HOGA1 p.Gly30Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
HOGA1 p.Gly325Val
Uncertain significance
Single submitter
primary hyperoxaluria type 3
-
HOGA1 p.Gly3Val
Uncertain significance
Single submitter
Inborn genetic diseases
- HOGA1 p.His270Gln Uncertain significance Single submitter
-
HOGA1 p.Ile163Phe
Uncertain significance
Single submitter
primary hyperoxaluria type 3
-
HOGA1 p.Ile163Thr
Uncertain significance
Single submitter
primary hyperoxaluria type 3
-
HOGA1 p.Ile35Val
Uncertain significance
Single submitter
primary hyperoxaluria type 3
-
HOGA1 p.Leu106Gln
Uncertain significance
Single submitter
primary hyperoxaluria type 3
-
HOGA1 p.Leu242Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
HOGA1 p.Leu61Pro
Uncertain significance
Single submitter
Inborn genetic diseases
-
HOGA1 p.Met134Ile
Uncertain significance
Single submitter
primary hyperoxaluria type 3
-
HOGA1 p.Met292Ile
Uncertain significance
Single submitter
primary hyperoxaluria type 3
-
HOGA1 p.Pro138Ser
Uncertain significance
Single submitter
primary hyperoxaluria type 3
-
HOGA1 p.Pro164Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
HOGA1 p.Pro179Ser
Uncertain significance
Single submitter
primary hyperoxaluria type 3
- HOGA1 p.Pro305Ser Uncertain significance Single submitter
- HOGA1 p.Pro40His Uncertain significance Single submitter
-
HOGA1 p.Ser15Cys
Uncertain significance
Single submitter
Inborn genetic diseases
-
HOGA1 p.Ser27Leu
Uncertain significance
Single submitter
Inborn genetic diseases
- HOGA1 p.Thr280Ser Uncertain significance Single submitter
-
HOGA1 p.Thr44Ile
Uncertain significance
Single submitter
primary hyperoxaluria type 3
-
HOGA1 p.Thr85Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
HOGA1 p.Trp294Arg
Uncertain significance
Single submitter
primary hyperoxaluria type 3
-
HOGA1 p.Tyr168His
Uncertain significance
Single submitter
primary hyperoxaluria type 3
-
HOGA1 p.Tyr231Asn
Uncertain significance
Single submitter
Inborn genetic diseases
- HOGA1 p.Tyr298His Uncertain significance Single submitter
-
HOGA1 p.Val10Met
Uncertain significance
Single submitter
primary hyperoxaluria type 3
-
HOGA1 p.Val135Leu
Uncertain significance
Single submitter
primary hyperoxaluria type 3
-
HOGA1 p.Val219Glu
Uncertain significance
Single submitter
primary hyperoxaluria type 3
-
HOGA1 p.Val22Met
Uncertain significance
Single submitter
primary hyperoxaluria type 3
-
HOGA1 p.Val24Ile
Uncertain significance
Single submitter
primary hyperoxaluria type 3
-
HOGA1 p.Val24Leu
Uncertain significance
Single submitter
primary hyperoxaluria type 3
-
HOGA1 p.Ala133Val
Uncertain significance
No assertion criteria
primary hyperoxaluria type 3
-
HOGA1 p.Ala26Gly
Uncertain significance
No assertion criteria
primary hyperoxaluria type 3
-
HOGA1 p.Ala48Asp
Uncertain significance
No assertion criteria
primary hyperoxaluria type 3
-
HOGA1 p.Asn21Tyr
Uncertain significance
No assertion criteria
primary hyperoxaluria type 3
-
HOGA1 p.Gly13Val
Uncertain significance
No assertion criteria
primary hyperoxaluria type 3
-
HOGA1 p.Gly28Glu
Uncertain significance
No assertion criteria
primary hyperoxaluria type 3
-
HOGA1 p.Gly296Arg
Uncertain significance
No assertion criteria
primary hyperoxaluria type 3
-
HOGA1 p.Ile291Thr
Uncertain significance
No assertion criteria
primary hyperoxaluria type 3
-
HOGA1 p.Lys63Gln
Uncertain significance
No assertion criteria
primary hyperoxaluria type 3
-
HOGA1 p.Ser161Pro
Uncertain significance
No assertion criteria
primary hyperoxaluria type 3
-
HOGA1 p.Ser87Thr
Uncertain significance
No assertion criteria
primary hyperoxaluria type 3
- HOGA1 p.Thr174Ala Uncertain significance No assertion criteria
-
HOGA1 p.Val136Met
Uncertain significance
No assertion criteria
primary hyperoxaluria type 3
Predictors split 44
The independent predictors disagree with each other — read with care.
-
HOGA1 p.Arg142Cys
Uncertain significance
Multiple submitters
primary hyperoxaluria type 3
-
HOGA1 p.Arg70Pro
Pathogenic/Likely pathogenic
Multiple submitters
primary hyperoxaluria type 3
-
HOGA1 p.Cys139Gly
Uncertain significance
Multiple submitters
primary hyperoxaluria type 3
-
HOGA1 p.Cys251Ser
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
HOGA1 p.Leu90His
Uncertain significance
Multiple submitters
primary hyperoxaluria type 3
-
HOGA1 p.Val245Phe
Pathogenic/Likely pathogenic
Multiple submitters
primary hyperoxaluria type 3
-
HOGA1 p.Val74Gly
Pathogenic/Likely pathogenic
Multiple submitters
HOGA1-related disorders
-
HOGA1 p.Ala126Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
HOGA1 p.Ala221Thr
Uncertain significance
Single submitter
primary hyperoxaluria type 3
-
HOGA1 p.Ala224Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
HOGA1 p.Ala278Thr
Uncertain significance
Single submitter
primary hyperoxaluria type 3
-
HOGA1 p.Arg142His
Conflicting
Single submitter
Inborn genetic diseases
- HOGA1 p.Arg271Leu Uncertain significance Single submitter
-
HOGA1 p.Arg318Cys
Conflicting
Single submitter
primary hyperoxaluria type 3
-
HOGA1 p.Arg318His
Conflicting
Single submitter
primary hyperoxaluria type 3
- HOGA1 p.Arg318Leu Uncertain significance Single submitter
-
HOGA1 p.Asn173Ser
Uncertain significance
Single submitter
primary hyperoxaluria type 3
- HOGA1 p.Cys251Tyr Pathogenic Single submitter
-
HOGA1 p.Cys302Ser
Uncertain significance
Single submitter
primary hyperoxaluria type 3
-
HOGA1 p.Glu313Lys
Uncertain significance
Single submitter
primary hyperoxaluria type 3
-
HOGA1 p.Gly194Ser
Conflicting
Single submitter
primary hyperoxaluria type 3
-
HOGA1 p.Ile208Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
HOGA1 p.Ile273Thr
Conflicting
Single submitter
primary hyperoxaluria type 3
-
HOGA1 p.Leu14Gln
Uncertain significance
Single submitter
primary hyperoxaluria type 3
-
HOGA1 p.Leu178Pro
Likely pathogenic
Single submitter
primary hyperoxaluria type 3
-
HOGA1 p.Leu64Val
Uncertain significance
Single submitter
Inborn genetic diseases
- HOGA1 p.Lys102Met Uncertain significance Single submitter
-
HOGA1 p.Met195Thr
Uncertain significance
Single submitter
primary hyperoxaluria type 3
- HOGA1 p.Met292Val Uncertain significance Single submitter
-
HOGA1 p.Phe67Cys
Uncertain significance
Single submitter
primary hyperoxaluria type 3
-
HOGA1 p.Pro162Leu
Uncertain significance
Single submitter
primary hyperoxaluria type 3
- HOGA1 p.Pro275Thr Uncertain significance Single submitter
-
HOGA1 p.Pro286Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
HOGA1 p.Thr137Asn
Uncertain significance
Single submitter
Inborn genetic diseases
- HOGA1 p.Thr212Asn Uncertain significance Single submitter
-
HOGA1 p.Tyr231His
Uncertain significance
Single submitter
Inborn genetic diseases
- HOGA1 p.Val219Met Uncertain significance Single submitter
-
HOGA1 p.Val52Met
Uncertain significance
Single submitter
Inborn genetic diseases
- HOGA1 p.Val74Ala Likely pathogenic Single submitter
-
HOGA1 p.Gly200Ala
Uncertain significance
No assertion criteria
primary hyperoxaluria type 3
-
HOGA1 p.Leu309Met
Uncertain significance
No assertion criteria
primary hyperoxaluria type 3
-
HOGA1 p.Met121Ile
Uncertain significance
No assertion criteria
primary hyperoxaluria type 3
-
HOGA1 p.Pro101Leu
Uncertain significance
No assertion criteria
primary hyperoxaluria type 3
-
HOGA1 p.Pro179Thr
Conflicting
No assertion criteria
primary hyperoxaluria type 3
All HOGA1 variants
Pathogenic 34
- c.700+5G>T Multiple submitters HOGA1-related disorders
- c.834_834+1delinsTT Multiple submitters primary hyperoxaluria type 3
- p.Arg303Cys Multiple submitters primary hyperoxaluria type 3
- p.Arg70Ter Multiple submitters HOGA1-related disorders
- p.Asp53fs Multiple submitters primary hyperoxaluria type 3
- p.Gln116Ter Multiple submitters primary hyperoxaluria type 3
- p.Gly287Val Multiple submitters primary hyperoxaluria type 3
- p.His62fs Multiple submitters primary hyperoxaluria type 3
- p.Tyr39Ter Multiple submitters primary hyperoxaluria type 3
- c.834+1dup Single submitter primary hyperoxaluria type 3
- p.Ala133fs Single submitter
- p.Asn191fs Single submitter
- p.Asn60fs Single submitter
- p.Cys251Tyr Single submitter ⚠
- p.Cys257fs Single submitter primary hyperoxaluria type 3
- p.Cys302fs Single submitter
- p.Gln252Ter Single submitter primary hyperoxaluria type 3
- p.Gln98Ter Single submitter
- p.Glu29Ter Single submitter primary hyperoxaluria type 3
- p.Glu314Ter Single submitter primary hyperoxaluria type 3
- p.Glu80Ter Single submitter primary hyperoxaluria type 3
- p.Gly234Ter Single submitter
- p.Gly79fs Single submitter
- p.Leu150fs Single submitter primary hyperoxaluria type 3
- p.Leu220Phe Single submitter ⚠
- p.Leu309Pro Single submitter primary hyperoxaluria type 3
- p.Met1Ile Single submitter
- p.Trp25Ter Single submitter
- p.Trp294Ter Single submitter primary hyperoxaluria type 3
- p.Tyr140Ter Single submitter
- p.Val24fs Single submitter primary hyperoxaluria type 3
- c.700+4G>T No assertion criteria primary hyperoxaluria type 3
- p.Ala243Asp No assertion criteria primary hyperoxaluria type 3
- p.Arg271fs No assertion criteria primary hyperoxaluria type 3
Pathogenic/Likely pathogenic 29
- c.834+2T>C Multiple submitters primary hyperoxaluria type 3
- p.Ala130fs Multiple submitters primary hyperoxaluria type 3
- p.Ala278= Multiple submitters HOGA1-related disorders
- p.Arg255Ter Multiple submitters primary hyperoxaluria type 3
- p.Arg271Cys Multiple submitters primary hyperoxaluria type 3 ⚠
- p.Arg271His Multiple submitters primary hyperoxaluria type 3 ⚠
- p.Arg70Pro Multiple submitters primary hyperoxaluria type 3 ⚠
- p.Arg97Cys Multiple submitters primary hyperoxaluria type 3 ⚠
- p.Arg97His Multiple submitters primary hyperoxaluria type 3 ⚠
- p.Cys257Gly Multiple submitters HOGA1-related disorders
- p.Glu113Lys Multiple submitters primary hyperoxaluria type 3
- p.Glu315del Multiple submitters primary hyperoxaluria type 3
- p.Gly287Glu Multiple submitters primary hyperoxaluria type 3
- p.Gly325Ser Multiple submitters primary hyperoxaluria type 3 ⚠
- p.Gly37Asp Multiple submitters primary hyperoxaluria type 3
- p.Gly76Asp Multiple submitters primary hyperoxaluria type 3
- p.Lys63fs Multiple submitters primary hyperoxaluria type 3
- p.Met1Arg Multiple submitters primary hyperoxaluria type 3
- p.Pro138fs Multiple submitters primary hyperoxaluria type 3
- p.Pro190Leu Multiple submitters HOGA1-related disorders ⚠
- p.Pro41_Val42insTer Multiple submitters primary hyperoxaluria type 3
- p.Pro41fs Multiple submitters primary hyperoxaluria type 3
- p.Pro45Leu Multiple submitters primary hyperoxaluria type 3
- p.Pro4fs Multiple submitters primary hyperoxaluria type 3
- p.Val239fs Multiple submitters primary hyperoxaluria type 3
- p.Val245Ile Multiple submitters primary hyperoxaluria type 3 ⚠
- p.Val245Phe Multiple submitters primary hyperoxaluria type 3 ⚠
- p.Val42fs Multiple submitters primary hyperoxaluria type 3
- p.Val74Gly Multiple submitters HOGA1-related disorders ⚠
Likely pathogenic 71
- c.340+1G>C Multiple submitters primary hyperoxaluria type 3
- c.603+1G>A Multiple submitters primary hyperoxaluria type 3
- c.604-1G>C Multiple submitters primary hyperoxaluria type 3
- c.700+2T>G Multiple submitters primary hyperoxaluria type 3
- p.Ala126Thr Multiple submitters primary hyperoxaluria type 3 ⚠
- p.Arg281Trp Multiple submitters primary hyperoxaluria type 3 ⚠
- p.Arg303Gly Multiple submitters primary hyperoxaluria type 3
- p.Arg89His Multiple submitters primary hyperoxaluria type 3 ⚠
- p.Leu84Pro Multiple submitters primary hyperoxaluria type 3
- p.Met292Thr Multiple submitters primary hyperoxaluria type 3
- c.212-1G>A Single submitter primary hyperoxaluria type 3
- c.337_340+14del Single submitter primary hyperoxaluria type 3
- c.340+1G>A Single submitter primary hyperoxaluria type 3
- c.340+2T>C Single submitter
- c.341-1G>A Single submitter primary hyperoxaluria type 3
- c.468+1G>A Single submitter
- c.468+1G>C Single submitter
- c.468+1G>T Single submitter primary hyperoxaluria type 3
- c.469-1G>C Single submitter primary hyperoxaluria type 3
- c.469-2A>G Single submitter
- c.603+1G>T Single submitter primary hyperoxaluria type 3
- c.700+2T>A Single submitter primary hyperoxaluria type 3
- c.701-2A>G Single submitter primary hyperoxaluria type 3
- c.834+1G>T Single submitter primary hyperoxaluria type 3
- p.Ala248fs Single submitter primary hyperoxaluria type 3
- p.Ala278Glu Single submitter primary hyperoxaluria type 3
- p.Arg282Cys Single submitter primary hyperoxaluria type 3 ⚠
- p.Asn103Ile Single submitter primary hyperoxaluria type 3
- p.Cys240Ter Single submitter primary hyperoxaluria type 3
- p.Cys257Tyr Single submitter
- p.Gln12Ter Single submitter primary hyperoxaluria type 3
- p.Gln188fs Single submitter primary hyperoxaluria type 3
- p.Gln218fs Single submitter primary hyperoxaluria type 3
- p.Gln269Ter Single submitter primary hyperoxaluria type 3
- p.Gln75Ter Single submitter primary hyperoxaluria type 3
- p.Glu263Ter Single submitter primary hyperoxaluria type 3
- p.Gly299Arg Single submitter primary hyperoxaluria type 3
- p.Gly299fs Single submitter primary hyperoxaluria type 3
- p.Gly325Asp Single submitter ⚠
- p.Gly37Val Single submitter primary hyperoxaluria type 3
- p.Gly71Val Single submitter primary hyperoxaluria type 3
- p.Leu178_Pro179delinsProThr Single submitter primary hyperoxaluria type 3
- p.Leu178Pro Single submitter primary hyperoxaluria type 3 ⚠
- p.Leu242fs Single submitter primary hyperoxaluria type 3
- p.Leu268del Single submitter primary hyperoxaluria type 3
- p.Leu272Val Single submitter primary hyperoxaluria type 3 ⚠
- p.Lys56Ter Single submitter primary hyperoxaluria type 3
- p.Met319fs Single submitter primary hyperoxaluria type 3
- p.Phe46fs Single submitter primary hyperoxaluria type 3
- p.Phe69Cys Single submitter primary hyperoxaluria type 3
- p.Phe69fs Single submitter primary hyperoxaluria type 3
- p.Phe83_Leu84insTer Single submitter primary hyperoxaluria type 3
- p.Pro190Ala Single submitter ⚠
- p.Pro190Ser Single submitter ⚠
- p.Pro45Ala Single submitter primary hyperoxaluria type 3
- p.Thr212Ala Single submitter primary hyperoxaluria type 3 ⚠
- p.Thr212fs Single submitter primary hyperoxaluria type 3
- p.Thr212Pro Single submitter primary hyperoxaluria type 3
- p.Thr280Ile Single submitter primary hyperoxaluria type 3
- p.Trp262Gly Single submitter primary hyperoxaluria type 3
- p.Trp262Ter Single submitter primary hyperoxaluria type 3
- p.Trp326fs Single submitter primary hyperoxaluria type 3
- p.Tyr141Ter Single submitter primary hyperoxaluria type 3
- p.Val119Glu Single submitter primary hyperoxaluria type 3
- p.Val119Gly Single submitter primary hyperoxaluria type 3
- p.Val135fs Single submitter primary hyperoxaluria type 3
- p.Val209fs Single submitter primary hyperoxaluria type 3
- p.Val74Ala Single submitter ⚠
- c.834+1G>A No assertion criteria primary hyperoxaluria type 3
- p.Gln266Ter No assertion criteria primary hyperoxaluria type 3
- p.Gly234Arg No assertion criteria primary hyperoxaluria type 3
Conflicting classifications of pathogenicity 32
- c.212-6T>C Single submitter primary hyperoxaluria type 3
- c.212-9C>G Single submitter primary hyperoxaluria type 3
- c.700+9C>T Single submitter primary hyperoxaluria type 3
- p.Ala148Val Single submitter primary hyperoxaluria type 3 ⚠
- p.Ala312Thr Single submitter Inborn genetic diseases ⚠
- p.Ala36Val Single submitter primary hyperoxaluria type 3 ⚠
- p.Arg142His Single submitter Inborn genetic diseases ⚠
- p.Arg282His Single submitter primary hyperoxaluria type 3 ⚠
- p.Arg303= Single submitter primary hyperoxaluria type 3
- p.Arg303His Single submitter primary hyperoxaluria type 3 ⚠
- p.Arg318Cys Single submitter primary hyperoxaluria type 3 ⚠
- p.Arg318His Single submitter primary hyperoxaluria type 3 ⚠
- p.Arg97Leu Single submitter ⚠
- p.Asn276= Single submitter primary hyperoxaluria type 3
- p.Asn78Lys Single submitter primary hyperoxaluria type 3 ⚠
- p.Asp177Tyr Single submitter primary hyperoxaluria type 3 ⚠
- p.Glu315_Arg318dup Single submitter primary hyperoxaluria type 3
- p.Gly111Arg Single submitter primary hyperoxaluria type 3 ⚠
- p.Gly129Arg Single submitter primary hyperoxaluria type 3 ⚠
- p.Gly194Ser Single submitter primary hyperoxaluria type 3 ⚠
- p.Gly238fs Single submitter primary hyperoxaluria type 3
- p.Gly79= Single submitter primary hyperoxaluria type 3
- p.His62Leu Single submitter primary hyperoxaluria type 3 ⚠
- p.Ile273Thr Single submitter primary hyperoxaluria type 3 ⚠
- p.Leu150Phe Single submitter primary hyperoxaluria type 3 ⚠
- p.Leu178Gln Single submitter primary hyperoxaluria type 3 ⚠
- p.Met100Thr Single submitter primary hyperoxaluria type 3 ⚠
- p.Pro311= Single submitter primary hyperoxaluria type 3
- p.Pro45Arg Single submitter primary hyperoxaluria type 3 ⚠
- p.Thr185Met Single submitter primary hyperoxaluria type 3 ⚠
- p.Thr259Met Single submitter primary hyperoxaluria type 3 ⚠
- p.Pro179Thr No assertion criteria primary hyperoxaluria type 3 ⚠
Benign 18
- c.340+26G>C Multiple submitters
- c.468+191G>A Multiple submitters
- c.469-25C>T Multiple submitters primary hyperoxaluria type 3
- c.469-31C>T Multiple submitters primary hyperoxaluria type 3
- c.604-85T>C Multiple submitters
- c.834+230G>A Multiple submitters
- c.835-120A>G Multiple submitters primary hyperoxaluria type 3
- c.*313A>C Multiple submitters primary hyperoxaluria type 3
- c.*355C>T Multiple submitters primary hyperoxaluria type 3
- c.*445A>G Multiple submitters primary hyperoxaluria type 3
- c.*498G>A Multiple submitters primary hyperoxaluria type 3
- c.*560T>C Multiple submitters primary hyperoxaluria type 3
- c.*637G>A Multiple submitters primary hyperoxaluria type 3
- p.Ala304= Multiple submitters primary hyperoxaluria type 3
- p.Thr259= Multiple submitters primary hyperoxaluria type 3
- c.212-339A>T Single submitter
- c.469-8dup Single submitter
- c.701-18G>C Single submitter primary hyperoxaluria type 3
Benign/Likely benign 8
- c.212-21A>G Multiple submitters primary hyperoxaluria type 3
- c.700+67G>A Multiple submitters primary hyperoxaluria type 3
- c.700+7C>T Multiple submitters primary hyperoxaluria type 3
- c.701-11_701-8dup Multiple submitters
- c.-279G>A Multiple submitters primary hyperoxaluria type 3
- c.*94C>T Multiple submitters primary hyperoxaluria type 3
- p.Ala132= Multiple submitters primary hyperoxaluria type 3
- p.Val239Ile Multiple submitters primary hyperoxaluria type 3
Likely benign 196
- c.603+19G>A Multiple submitters primary hyperoxaluria type 3
- c.700+15G>A Multiple submitters
- c.834+42G>T Multiple submitters primary hyperoxaluria type 3
- c.*415T>A Multiple submitters primary hyperoxaluria type 3
- p.Ala265= Multiple submitters
- p.Ala277Thr Multiple submitters Inborn genetic diseases
- p.Asn324= Multiple submitters
- p.Asp131= Multiple submitters
- p.Cys240= Multiple submitters primary hyperoxaluria type 3
- p.Cys257= Multiple submitters primary hyperoxaluria type 3
- p.Gln98= Multiple submitters primary hyperoxaluria type 3
- p.Gly238= Multiple submitters
- p.Pro311Ser Multiple submitters primary hyperoxaluria type 3
- p.Val193= Multiple submitters primary hyperoxaluria type 3
- c.211+12T>G Single submitter
- c.211+14T>G Single submitter
- c.211+15C>T Single submitter
- c.211+20G>A Single submitter
- c.211+20G>C Single submitter
- c.211+20G>T Single submitter
- c.340+13G>A Single submitter
- c.340+17T>C Single submitter
- c.340+21_340+27del Single submitter
- c.340+7C>A Single submitter
- c.340+7C>T Single submitter
- c.340+8A>C Single submitter
- c.341-13C>T Single submitter
- c.341-18C>A Single submitter
- c.341-4G>A Single submitter
- c.341-81del Single submitter
- c.341-8T>C Single submitter primary hyperoxaluria type 3
- c.341-9C>T Single submitter
- c.468+19A>G Single submitter
- c.468+20C>T Single submitter
- c.469-12C>T Single submitter
- c.469-13C>T Single submitter primary hyperoxaluria type 3
- c.469-14G>A Single submitter
- c.469-14G>T Single submitter
- c.469-15C>G Single submitter
- c.469-15C>T Single submitter
- c.469-4C>G Single submitter
- c.469-6C>T Single submitter
- c.469-8C>T Single submitter
- c.469-9C>G Single submitter
- c.469-9C>T Single submitter
- c.603+11G>A Single submitter
- c.603+12C>T Single submitter
- c.603+13A>G Single submitter
- c.603+16T>A Single submitter
- c.603+18C>T Single submitter
- c.603+8G>A Single submitter
- c.603+9C>A Single submitter
- c.603+9C>T Single submitter
- c.604-10G>T Single submitter
- c.604-12T>A Single submitter
- c.604-14A>G Single submitter
- c.604-18C>T Single submitter
- c.604-19A>T Single submitter
- c.604-20C>T Single submitter
- c.700+14T>C Single submitter
- c.700+7C>A Single submitter
- c.700+8G>A Single submitter
- c.700+9C>A Single submitter
- c.701-16G>A Single submitter
- c.701-16G>T Single submitter
- c.701-17C>T Single submitter
- c.701-18G>A Single submitter
- c.701-19T>C Single submitter
- c.701-20C>G Single submitter
- c.701-5T>C Single submitter
- c.701-6G>A Single submitter
- c.701-6G>C Single submitter
- c.701-7C>T Single submitter primary hyperoxaluria type 3
- c.701-8T>C Single submitter
- c.834+10T>C Single submitter
- c.834+16C>T Single submitter
- c.834+17G>A Single submitter
- c.834+18G>A Single submitter
- c.834+19G>A Single submitter
- c.834+20G>A Single submitter
- c.834+8A>G Single submitter
- c.835-12C>T Single submitter
- c.835-20T>A Single submitter
- c.835-7T>A Single submitter primary hyperoxaluria type 3
- c.835-7T>G Single submitter
- p.Ala117= Single submitter
- p.Ala130= Single submitter
- p.Ala133= Single submitter
- p.Ala148= Single submitter
- p.Ala229= Single submitter
- p.Ala232= Single submitter
- p.Ala235= Single submitter
- p.Ala241= Single submitter
- p.Ala312= Single submitter
- p.Ala36= Single submitter
- p.Arg11= Single submitter
- p.Arg144= Single submitter
- p.Arg204= Single submitter
- p.Arg255= Single submitter
- p.Arg282= Single submitter
- p.Arg95His Single submitter primary hyperoxaluria type 3
- p.Arg97= Single submitter
- p.Asn103= Single submitter primary hyperoxaluria type 3
- p.Asn21= Single submitter
- p.Asn244= Single submitter
- p.Asn60= Single submitter
- p.Asp177= Single submitter
- p.Asp197= Single submitter
- p.Asp216= Single submitter
- p.Cys139= Single submitter
- p.Cys258= Single submitter
- p.Gln127= Single submitter
- p.Gln188= Single submitter
- p.Gln215= Single submitter
- p.Gln269= Single submitter
- p.Glu263= Single submitter
- p.Glu274= Single submitter
- p.Glu308= Single submitter
- p.Glu314= Single submitter
- p.Glu315= Single submitter
- p.Glu58= Single submitter
- p.Glu80= Single submitter
- p.Gly13= Single submitter
- p.Gly143= Single submitter
- p.Gly175= Single submitter
- p.Gly199= Single submitter
- p.Gly225= Single submitter
- p.Gly23= Single submitter
- p.Gly260= Single submitter
- p.Gly287= Single submitter
- p.Gly3= Single submitter
- p.Gly30= Single submitter
- p.Gly37= Single submitter
- p.Gly55= Single submitter
- p.Gly71= Single submitter
- p.His152= Single submitter
- p.Ile192= Single submitter
- p.Ile291= Single submitter
- p.Ile38= Single submitter
- p.Leu105= Single submitter
- p.Leu107= Single submitter
- p.Leu14= Single submitter
- p.Leu167= Single submitter
- p.Leu18= Single submitter
- p.Leu227= Single submitter
- p.Leu246= Single submitter
- p.Leu253= Single submitter
- p.Leu256= Single submitter
- p.Leu268= Single submitter primary hyperoxaluria type 3
- p.Leu309= Single submitter
- p.Leu327= Single submitter
- p.Leu57= Single submitter
- p.Leu90= Single submitter
- p.Lys214= Single submitter
- p.Lys56= Single submitter
- p.Phe226= Single submitter
- p.Phe67= Single submitter
- p.Phe69= Single submitter
- p.Phe72= Single submitter primary hyperoxaluria type 3
- p.Pro138= Single submitter
- p.Pro162= Single submitter
- p.Pro190= Single submitter
- p.Ser110= Single submitter
- p.Ser147= Single submitter
- p.Ser17= Single submitter
- p.Ser198= Single submitter primary hyperoxaluria type 3
- p.Ser223= Single submitter
- p.Ser27= Single submitter
- p.Ser310= Single submitter
- p.Ser77= Single submitter
- p.Thr122= Single submitter
- p.Thr155= Single submitter
- p.Thr185= Single submitter
- p.Thr43= Single submitter
- p.Thr44= Single submitter
- p.Thr85= Single submitter
- p.Tyr140= Single submitter primary hyperoxaluria type 3
- p.Tyr154= Single submitter
- p.Tyr298= Single submitter
- p.Tyr39= Single submitter
- p.Tyr54= Single submitter
- p.Val10= Single submitter
- p.Val119= Single submitter
- p.Val123Ile Single submitter
- p.Val128= Single submitter
- p.Val135= Single submitter
- p.Val166= Single submitter
- p.Val183= Single submitter
- p.Val202= Single submitter
- p.Val219= Single submitter
- p.Val22= Single submitter
- p.Val236= Single submitter
- p.Val279= Single submitter
- p.Val6= Single submitter primary hyperoxaluria type 3
- p.Val93= Single submitter
- p.Val96= Single submitter
Uncertain significance 171
- c.*186C>A Multiple submitters primary hyperoxaluria type 3
- c.*360C>T Multiple submitters primary hyperoxaluria type 3
- p.Ala132Val Multiple submitters primary hyperoxaluria type 3 ⚠
- p.Ala304Thr Multiple submitters primary hyperoxaluria type 3 ⚠
- p.Ala36Thr Multiple submitters primary hyperoxaluria type 3 ⚠
- p.Arg11Ser Multiple submitters primary hyperoxaluria type 3 ⚠
- p.Arg142Cys Multiple submitters primary hyperoxaluria type 3 ⚠
- p.Arg255Gln Multiple submitters primary hyperoxaluria type 3 ⚠
- p.Arg95Cys Multiple submitters primary hyperoxaluria type 3 ⚠
- p.Asp181His Multiple submitters primary hyperoxaluria type 3 ⚠
- p.Cys139Gly Multiple submitters primary hyperoxaluria type 3 ⚠
- p.Cys251Ser Multiple submitters Inborn genetic diseases ⚠
- p.Gln249Glu Multiple submitters primary hyperoxaluria type 3 ⚠
- p.Glu315Ala Multiple submitters Inborn genetic diseases ⚠
- p.Glu315Gly Multiple submitters Inborn genetic diseases ⚠
- p.Gly199Ser Multiple submitters Inborn genetic diseases ⚠
- p.Gly200Asp Multiple submitters primary hyperoxaluria type 3 ⚠
- p.Gly30Val Multiple submitters primary hyperoxaluria type 3 ⚠
- p.Leu288Arg Multiple submitters primary hyperoxaluria type 3 ⚠
- p.Leu90His Multiple submitters primary hyperoxaluria type 3 ⚠
- p.Ser110Phe Multiple submitters primary hyperoxaluria type 3 ⚠
- p.Ser223Leu Multiple submitters Inborn genetic diseases ⚠
- p.Thr115Ser Multiple submitters primary hyperoxaluria type 3 ⚠
- p.Thr122Ile Multiple submitters Inborn genetic diseases ⚠
- p.Thr47Pro Multiple submitters primary hyperoxaluria type 3
- p.Trp7Ser Multiple submitters primary hyperoxaluria type 3 ⚠
- p.Val136Ala Multiple submitters Inborn genetic diseases ⚠
- p.Val180Met Multiple submitters primary hyperoxaluria type 3 ⚠
- c.211+4A>G Single submitter
- c.211+5280G>T Single submitter ⚠
- c.212-3C>T Single submitter
- c.340+3G>A Single submitter
- c.468+12G>T Single submitter primary hyperoxaluria type 3
- c.603+6T>A Single submitter
- c.604-4G>T Single submitter primary hyperoxaluria type 3
- c.700+15G>T Single submitter
- c.834+6C>T Single submitter
- c.-224G>A Single submitter primary hyperoxaluria type 3
- c.*101C>T Single submitter primary hyperoxaluria type 3
- c.*1047T>C Single submitter primary hyperoxaluria type 3
- c.*1059A>C Single submitter primary hyperoxaluria type 3
- c.*109C>T Single submitter primary hyperoxaluria type 3
- c.*186C>T Single submitter primary hyperoxaluria type 3
- c.*288A>C Single submitter primary hyperoxaluria type 3
- c.*289C>T Single submitter primary hyperoxaluria type 3
- c.*290G>A Single submitter primary hyperoxaluria type 3
- c.*291C>T Single submitter primary hyperoxaluria type 3
- c.*292C>T Single submitter primary hyperoxaluria type 3
- c.*352T>C Single submitter primary hyperoxaluria type 3
- c.*354dup Single submitter
- c.*391T>C Single submitter primary hyperoxaluria type 3
- c.*425T>C Single submitter primary hyperoxaluria type 3
- c.*427G>A Single submitter primary hyperoxaluria type 3
- c.*485C>T Single submitter primary hyperoxaluria type 3
- c.*550A>G Single submitter primary hyperoxaluria type 3
- c.*55T>C Single submitter primary hyperoxaluria type 3
- c.*592C>G Single submitter primary hyperoxaluria type 3
- c.*592C>T Single submitter primary hyperoxaluria type 3
- c.*593G>A Single submitter primary hyperoxaluria type 3
- c.*665C>T Single submitter primary hyperoxaluria type 3
- c.*68C>T Single submitter primary hyperoxaluria type 3
- c.*733C>T Single submitter primary hyperoxaluria type 3
- c.*803A>G Single submitter primary hyperoxaluria type 3
- c.*887C>G Single submitter primary hyperoxaluria type 3
- c.*937C>T Single submitter primary hyperoxaluria type 3
- c.*950G>A Single submitter primary hyperoxaluria type 3
- p.Ala117Thr Single submitter Inborn genetic diseases ⚠
- p.Ala126Val Single submitter Inborn genetic diseases ⚠
- p.Ala221Pro Single submitter primary hyperoxaluria type 3 ⚠
- p.Ala221Thr Single submitter primary hyperoxaluria type 3 ⚠
- p.Ala224Thr Single submitter Inborn genetic diseases ⚠
- p.Ala265Thr Single submitter primary hyperoxaluria type 3 ⚠
- p.Ala278Thr Single submitter primary hyperoxaluria type 3 ⚠
- p.Ala99Val Single submitter Inborn genetic diseases ⚠
- p.Arg144Leu Single submitter Inborn genetic diseases ⚠
- p.Arg271Leu Single submitter ⚠
- p.Arg281Gln Single submitter primary hyperoxaluria type 3 ⚠
- p.Arg318Leu Single submitter ⚠
- p.Arg318Ser Single submitter ⚠
- p.Arg70Gln Single submitter Inborn genetic diseases ⚠
- p.Arg89Leu Single submitter Inborn genetic diseases ⚠
- p.Asn173Ser Single submitter primary hyperoxaluria type 3 ⚠
- p.Asp201Asn Single submitter Inborn genetic diseases ⚠
- p.Asp264Val Single submitter ⚠
- p.Cys112Trp Single submitter ⚠
- p.Cys258Arg Single submitter Inborn genetic diseases ⚠
- p.Cys302Ser Single submitter primary hyperoxaluria type 3 ⚠
- p.Gln215Arg Single submitter ⚠
- p.Gln261Lys Single submitter ⚠
- p.Glu113Gln Single submitter primary hyperoxaluria type 3 ⚠
- p.Glu313Lys Single submitter primary hyperoxaluria type 3 ⚠
- p.Glu51Asp Single submitter primary hyperoxaluria type 3 ⚠
- p.Glu80Lys Single submitter primary hyperoxaluria type 3 ⚠
- p.Gly199Arg Single submitter Inborn genetic diseases ⚠
- p.Gly23Glu Single submitter ⚠
- p.Gly300Asp Single submitter Inborn genetic diseases ⚠
- p.Gly30Arg Single submitter Inborn genetic diseases ⚠
- p.Gly325Val Single submitter primary hyperoxaluria type 3 ⚠
- p.Gly3Val Single submitter Inborn genetic diseases ⚠
- p.His270Gln Single submitter ⚠
- p.Ile163Phe Single submitter primary hyperoxaluria type 3 ⚠
- p.Ile163Thr Single submitter primary hyperoxaluria type 3 ⚠
- p.Ile208Thr Single submitter Inborn genetic diseases ⚠
- p.Ile35Val Single submitter primary hyperoxaluria type 3 ⚠
- p.Leu106Gln Single submitter primary hyperoxaluria type 3 ⚠
- p.Leu14Gln Single submitter primary hyperoxaluria type 3 ⚠
- p.Leu242Val Single submitter Inborn genetic diseases ⚠
- p.Leu61Pro Single submitter Inborn genetic diseases ⚠
- p.Leu64Val Single submitter Inborn genetic diseases ⚠
- p.Lys102Met Single submitter ⚠
- p.Lys32del Single submitter primary hyperoxaluria type 3
- p.Met134Ile Single submitter primary hyperoxaluria type 3 ⚠
- p.Met195Thr Single submitter primary hyperoxaluria type 3 ⚠
- p.Met292Ile Single submitter primary hyperoxaluria type 3 ⚠
- p.Met292Val Single submitter ⚠
- p.Phe67Cys Single submitter primary hyperoxaluria type 3 ⚠
- p.Pro138Ser Single submitter primary hyperoxaluria type 3 ⚠
- p.Pro162Leu Single submitter primary hyperoxaluria type 3 ⚠
- p.Pro164Thr Single submitter Inborn genetic diseases ⚠
- p.Pro179Ser Single submitter primary hyperoxaluria type 3 ⚠
- p.Pro275Thr Single submitter ⚠
- p.Pro286Ser Single submitter Inborn genetic diseases ⚠
- p.Pro305Ser Single submitter ⚠
- p.Pro40His Single submitter ⚠
- p.Ser15Cys Single submitter Inborn genetic diseases ⚠
- p.Ser27Leu Single submitter Inborn genetic diseases ⚠
- p.Thr137Asn Single submitter Inborn genetic diseases ⚠
- p.Thr212Asn Single submitter ⚠
- p.Thr280Ser Single submitter ⚠
- p.Thr44Ile Single submitter primary hyperoxaluria type 3 ⚠
- p.Thr85Ser Single submitter Inborn genetic diseases ⚠
- p.Trp294Arg Single submitter primary hyperoxaluria type 3 ⚠
- p.Tyr168His Single submitter primary hyperoxaluria type 3 ⚠
- p.Tyr231Asn Single submitter Inborn genetic diseases ⚠
- p.Tyr231His Single submitter Inborn genetic diseases ⚠
- p.Tyr298His Single submitter ⚠
- p.Val10Met Single submitter primary hyperoxaluria type 3 ⚠
- p.Val135Leu Single submitter primary hyperoxaluria type 3 ⚠
- p.Val219Glu Single submitter primary hyperoxaluria type 3 ⚠
- p.Val219Met Single submitter ⚠
- p.Val22Met Single submitter primary hyperoxaluria type 3 ⚠
- p.Val245Leu Single submitter primary hyperoxaluria type 3
- p.Val24Ile Single submitter primary hyperoxaluria type 3 ⚠
- p.Val24Leu Single submitter primary hyperoxaluria type 3 ⚠
- p.Val52Met Single submitter Inborn genetic diseases ⚠
- c.341-82del No assertion criteria primary hyperoxaluria type 3
- c.469-4C>T No assertion criteria primary hyperoxaluria type 3
- p.Ala133Val No assertion criteria primary hyperoxaluria type 3 ⚠
- p.Ala248= No assertion criteria primary hyperoxaluria type 3
- p.Ala26Gly No assertion criteria primary hyperoxaluria type 3 ⚠
- p.Ala48Asp No assertion criteria primary hyperoxaluria type 3 ⚠
- p.Asn21Tyr No assertion criteria primary hyperoxaluria type 3 ⚠
- p.Asp159= No assertion criteria primary hyperoxaluria type 3
- p.Gly13Val No assertion criteria primary hyperoxaluria type 3 ⚠
- p.Gly200Ala No assertion criteria primary hyperoxaluria type 3 ⚠
- p.Gly28Glu No assertion criteria primary hyperoxaluria type 3 ⚠
- p.Gly296Arg No assertion criteria primary hyperoxaluria type 3 ⚠
- p.Ile291Thr No assertion criteria primary hyperoxaluria type 3 ⚠
- p.Leu106= No assertion criteria primary hyperoxaluria type 3
- p.Leu309Met No assertion criteria primary hyperoxaluria type 3 ⚠
- p.Lys63Gln No assertion criteria primary hyperoxaluria type 3 ⚠
- p.Met121Ile No assertion criteria primary hyperoxaluria type 3 ⚠
- p.Pro101Leu No assertion criteria primary hyperoxaluria type 3 ⚠
- p.Pro286= No assertion criteria primary hyperoxaluria type 3
- p.Ser161Pro No assertion criteria primary hyperoxaluria type 3 ⚠
- p.Ser87Thr No assertion criteria primary hyperoxaluria type 3 ⚠
- p.Ser9del No assertion criteria primary hyperoxaluria type 3
- p.Thr174= No assertion criteria primary hyperoxaluria type 3
- p.Thr174Ala No assertion criteria ⚠
- p.Val136Met No assertion criteria primary hyperoxaluria type 3 ⚠
- p.Val74= No assertion criteria primary hyperoxaluria type 3