GRHPR — 591 ClinVar variants
All ClinVar germline GRHPR variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 130 flagged for review →
52 Pathogenic · 28 Pathogenic/Likely pathogenic · 75 Likely pathogenic · 23 Conflicting · 19 Benign · 10 Benign/Likely benign · 252 Likely benign · 132 Uncertain significance
Full GRHPR gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 130
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 2
ClinVar calls these pathogenic, but the computational predictors lean tolerated — the highest-value review flag.
-
GRHPR p.Ser140Leu
Likely pathogenic
Multiple submitters
primary hyperoxaluria type 2
-
GRHPR p.Arg96His
Likely pathogenic
Single submitter
primary hyperoxaluria type 2
Predictors agree, ClinVar conflicts 10
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
-
GRHPR p.Ala115Glu
Conflicting
Single submitter
primary hyperoxaluria type 2
-
GRHPR p.Arg302His
Conflicting
Single submitter
primary hyperoxaluria type 2
-
GRHPR p.Arg302Pro
Conflicting
Single submitter
primary hyperoxaluria type 2
-
GRHPR p.Asp247Gly
Conflicting
Single submitter
primary hyperoxaluria type 2
-
GRHPR p.Asp61Asn
Conflicting
Single submitter
primary hyperoxaluria type 2
-
GRHPR p.Glu223Lys
Conflicting
Single submitter
Nephrolithiasis/nephrocalcinosis
-
GRHPR p.Gly160Arg
Conflicting
Single submitter
primary hyperoxaluria type 2
-
GRHPR p.Gly319Trp
Conflicting
Single submitter
primary hyperoxaluria type 2
-
GRHPR p.Val248Asp
Conflicting
Single submitter
primary hyperoxaluria type 2
-
GRHPR p.Val248Ile
Conflicting
Single submitter
primary hyperoxaluria type 2
Predictors lean, ClinVar uncertain 45
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
-
GRHPR p.Cys29Arg
Uncertain significance
Multiple submitters
primary hyperoxaluria type 2
-
GRHPR p.Gly54Ser
Uncertain significance
Multiple submitters
Nephrolithiasis/nephrocalcinosis
-
GRHPR p.Ile263Thr
Uncertain significance
Multiple submitters
Nephrolithiasis/nephrocalcinosis
-
GRHPR p.Ile40Thr
Uncertain significance
Multiple submitters
Nephrolithiasis/nephrocalcinosis
-
GRHPR p.Met234Thr
Uncertain significance
Multiple submitters
primary hyperoxaluria type 2
-
GRHPR p.Met322Ile
Uncertain significance
Multiple submitters
Nephrolithiasis/nephrocalcinosis
-
GRHPR p.Pro3Leu
Uncertain significance
Multiple submitters
Nephrolithiasis/nephrocalcinosis
-
GRHPR p.Ser201Pro
Uncertain significance
Multiple submitters
primary hyperoxaluria type 2
-
GRHPR p.Thr108Ile
Uncertain significance
Multiple submitters
Nephrolithiasis/nephrocalcinosis
-
GRHPR p.Val270Met
Uncertain significance
Multiple submitters
primary hyperoxaluria type 2
-
GRHPR p.Ala112Thr
Uncertain significance
Single submitter
primary hyperoxaluria type 2
-
GRHPR p.Ala169Pro
Uncertain significance
Single submitter
Nephrolithiasis/nephrocalcinosis
-
GRHPR p.Ala17Gly
Uncertain significance
Single submitter
Nephrolithiasis/nephrocalcinosis
- GRHPR p.Ala42Val Uncertain significance Single submitter
- GRHPR p.Arg124His Uncertain significance Single submitter
-
GRHPR p.Arg185His
Uncertain significance
Single submitter
primary hyperoxaluria type 2
- GRHPR p.Arg245Ser Uncertain significance Single submitter
- GRHPR p.Arg47Gln Uncertain significance Single submitter
-
GRHPR p.Asn287His
Uncertain significance
Single submitter
Nephrolithiasis/nephrocalcinosis
-
GRHPR p.Asp253Glu
Uncertain significance
Single submitter
primary hyperoxaluria type 2
-
GRHPR p.Asp86His
Uncertain significance
Single submitter
primary hyperoxaluria type 2
-
GRHPR p.Cys57Ser
Uncertain significance
Single submitter
Nephrolithiasis/nephrocalcinosis
-
GRHPR p.Glu223Gln
Uncertain significance
Single submitter
Nephrolithiasis/nephrocalcinosis
-
GRHPR p.Gly184Glu
Uncertain significance
Single submitter
primary hyperoxaluria type 2
- GRHPR p.Gly19Asp Uncertain significance Single submitter
-
GRHPR p.Gly261Val
Uncertain significance
Single submitter
primary hyperoxaluria type 2
- GRHPR p.Gly54Arg Uncertain significance Single submitter
-
GRHPR p.His53Asp
Uncertain significance
Single submitter
primary hyperoxaluria type 2
- GRHPR p.Ile15Leu Uncertain significance Single submitter
-
GRHPR p.Ile15Thr
Uncertain significance
Single submitter
primary hyperoxaluria type 2
-
GRHPR p.Ile168Val
Uncertain significance
Single submitter
Nephrolithiasis/nephrocalcinosis
-
GRHPR p.Ile67Leu
Uncertain significance
Single submitter
primary hyperoxaluria type 2
-
GRHPR p.Leu317Pro
Uncertain significance
Single submitter
Nephrolithiasis/nephrocalcinosis
-
GRHPR p.Ser117Pro
Uncertain significance
Single submitter
primary hyperoxaluria type 2
-
GRHPR p.Thr103Ile
Uncertain significance
Single submitter
primary hyperoxaluria type 2
-
GRHPR p.Thr12Ala
Uncertain significance
Single submitter
Nephrolithiasis/nephrocalcinosis
- GRHPR p.Trp34Gly Uncertain significance Single submitter
-
GRHPR p.Val21Ile
Uncertain significance
Single submitter
primary hyperoxaluria type 2
-
GRHPR p.Ala17Val
Uncertain significance
No assertion criteria
primary hyperoxaluria type 2
-
GRHPR p.Arg5Gln
Uncertain significance
No assertion criteria
primary hyperoxaluria type 2
-
GRHPR p.Leu282Pro
Uncertain significance
No assertion criteria
primary hyperoxaluria type 2
-
GRHPR p.Leu291Pro
Uncertain significance
No assertion criteria
primary hyperoxaluria type 2
-
GRHPR p.Leu59Phe
Uncertain significance
No assertion criteria
GRHPR-related disorder
-
GRHPR p.Pro292Ser
Uncertain significance
No assertion criteria
primary hyperoxaluria type 2
-
GRHPR p.Ser154Asn
Uncertain significance
No assertion criteria
primary hyperoxaluria type 2
Predictors split 73
The independent predictors disagree with each other — read with care.
-
GRHPR p.Ala50Val
Uncertain significance
Multiple submitters
primary hyperoxaluria type 2
-
GRHPR p.Arg125Gln
Uncertain significance
Multiple submitters
primary hyperoxaluria type 2
-
GRHPR p.Arg163Cys
Uncertain significance
Multiple submitters
primary hyperoxaluria type 2
-
GRHPR p.Arg170Gln
Benign/Likely benign
Multiple submitters
primary hyperoxaluria type 2
-
GRHPR p.Arg171Cys
Uncertain significance
Multiple submitters
primary hyperoxaluria type 2
-
GRHPR p.Arg171His
Benign/Likely benign
Multiple submitters
primary hyperoxaluria type 2
-
GRHPR p.Arg185Cys
Uncertain significance
Multiple submitters
Nephrolithiasis/nephrocalcinosis
-
GRHPR p.Arg99Gln
Uncertain significance
Multiple submitters
Nephrolithiasis/nephrocalcinosis
-
GRHPR p.Cys29Tyr
Uncertain significance
Multiple submitters
primary hyperoxaluria type 2
-
GRHPR p.Gly176Ser
Uncertain significance
Multiple submitters
Nephrolithiasis/nephrocalcinosis
-
GRHPR p.Ile164Val
Uncertain significance
Multiple submitters
Nephrolithiasis/nephrocalcinosis
-
GRHPR p.Leu282Phe
Likely benign
Multiple submitters
primary hyperoxaluria type 2
-
GRHPR p.Lys142Asn
Uncertain significance
Multiple submitters
Nephrolithiasis/nephrocalcinosis
-
GRHPR p.Pro321Leu
Benign/Likely benign
Multiple submitters
Nephrolithiasis/nephrocalcinosis
-
GRHPR p.Thr271Met
Uncertain significance
Multiple submitters
Nephrolithiasis/nephrocalcinosis
-
GRHPR p.Val249Ile
Uncertain significance
Multiple submitters
Nephrolithiasis/nephrocalcinosis
-
GRHPR p.Ala115Thr
Conflicting
Single submitter
Nephrolithiasis/nephrocalcinosis
-
GRHPR p.Ala193Val
Conflicting
Single submitter
Nephrolithiasis/nephrocalcinosis
- GRHPR p.Ala221Gly Uncertain significance Single submitter
-
GRHPR p.Ala24Pro
Uncertain significance
Single submitter
primary hyperoxaluria type 2
-
GRHPR p.Ala27Val
Uncertain significance
Single submitter
Nephrolithiasis/nephrocalcinosis
-
GRHPR p.Ala309Val
Uncertain significance
Single submitter
Nephrolithiasis/nephrocalcinosis
-
GRHPR p.Ala50Gly
Uncertain significance
Single submitter
Nephrolithiasis/nephrocalcinosis
-
GRHPR p.Ala50Thr
Uncertain significance
Single submitter
Nephrolithiasis/nephrocalcinosis
-
GRHPR p.Ala52Ser
Uncertain significance
Single submitter
Nephrolithiasis/nephrocalcinosis
-
GRHPR p.Ala71Thr
Uncertain significance
Single submitter
primary hyperoxaluria type 2
-
GRHPR p.Ala89Pro
Uncertain significance
Single submitter
primary hyperoxaluria type 2
-
GRHPR p.Arg163His
Uncertain significance
Single submitter
primary hyperoxaluria type 2
-
GRHPR p.Arg96Cys
Conflicting
Single submitter
primary hyperoxaluria type 2
-
GRHPR p.Arg99Leu
Uncertain significance
Single submitter
Nephrolithiasis/nephrocalcinosis
-
GRHPR p.Asp210Asn
Uncertain significance
Single submitter
primary hyperoxaluria type 2
-
GRHPR p.Asp253Asn
Uncertain significance
Single submitter
Nephrolithiasis/nephrocalcinosis
-
GRHPR p.Asp91Gly
Uncertain significance
Single submitter
primary hyperoxaluria type 2
-
GRHPR p.Gln33Arg
Uncertain significance
Single submitter
primary hyperoxaluria type 2
-
GRHPR p.Glu131Lys
Conflicting
Single submitter
Nephrolithiasis/nephrocalcinosis
-
GRHPR p.Glu18Lys
Uncertain significance
Single submitter
primary hyperoxaluria type 2
-
GRHPR p.Glu38Gly
Uncertain significance
Single submitter
primary hyperoxaluria type 2
-
GRHPR p.Gly176Cys
Uncertain significance
Single submitter
Nephrolithiasis/nephrocalcinosis
-
GRHPR p.Gly319Arg
Uncertain significance
Single submitter
primary hyperoxaluria type 2
-
GRHPR p.Gly48Asp
Uncertain significance
Single submitter
primary hyperoxaluria type 2
-
GRHPR p.Gly48Val
Uncertain significance
Single submitter
Nephrolithiasis/nephrocalcinosis
-
GRHPR p.Ile263Val
Uncertain significance
Single submitter
Nephrolithiasis/nephrocalcinosis
-
GRHPR p.Ile294Thr
Uncertain significance
Single submitter
Nephrolithiasis/nephrocalcinosis
-
GRHPR p.Leu144Arg
Uncertain significance
Single submitter
Nephrolithiasis/nephrocalcinosis
-
GRHPR p.Leu144Val
Uncertain significance
Single submitter
Nephrolithiasis/nephrocalcinosis
-
GRHPR p.Leu268Val
Uncertain significance
Single submitter
Nephrolithiasis/nephrocalcinosis
-
GRHPR p.Leu283Arg
Uncertain significance
Single submitter
Nephrolithiasis/nephrocalcinosis
-
GRHPR p.Leu307Phe
Uncertain significance
Single submitter
Nephrolithiasis/nephrocalcinosis
-
GRHPR p.Leu58Ile
Uncertain significance
Single submitter
Nephrolithiasis/nephrocalcinosis
-
GRHPR p.Lys228Glu
Conflicting
Single submitter
primary hyperoxaluria type 2
-
GRHPR p.Lys286Arg
Uncertain significance
Single submitter
Nephrolithiasis/nephrocalcinosis
-
GRHPR p.Lys286Asn
Uncertain significance
Single submitter
primary hyperoxaluria type 2
-
GRHPR p.Lys95Asn
Uncertain significance
Single submitter
Nephrolithiasis/nephrocalcinosis
-
GRHPR p.Phe230Leu
Conflicting
Single submitter
primary hyperoxaluria type 2
-
GRHPR p.Pro127Leu
Conflicting
Single submitter
Nephrolithiasis/nephrocalcinosis
-
GRHPR p.Pro321Ala
Uncertain significance
Single submitter
primary hyperoxaluria type 2
- GRHPR p.Pro41Leu Uncertain significance Single submitter
-
GRHPR p.Ser154Thr
Uncertain significance
Single submitter
primary hyperoxaluria type 2
-
GRHPR p.Thr111Ala
Uncertain significance
Single submitter
Nephrolithiasis/nephrocalcinosis
-
GRHPR p.Thr152Arg
Uncertain significance
Single submitter
Nephrolithiasis/nephrocalcinosis
-
GRHPR p.Thr219Ile
Uncertain significance
Single submitter
primary hyperoxaluria type 2
-
GRHPR p.Thr284Asn
Uncertain significance
Single submitter
primary hyperoxaluria type 2
-
GRHPR p.Tyr102Cys
Uncertain significance
Single submitter
Nephrolithiasis/nephrocalcinosis
-
GRHPR p.Tyr149Cys
Uncertain significance
Single submitter
Nephrolithiasis/nephrocalcinosis
-
GRHPR p.Val100Ala
Uncertain significance
Single submitter
Nephrolithiasis/nephrocalcinosis
-
GRHPR p.Val213Ala
Uncertain significance
Single submitter
primary hyperoxaluria type 2
-
GRHPR p.Val49Met
Uncertain significance
Single submitter
primary hyperoxaluria type 2
- GRHPR p.Val63Met Uncertain significance Single submitter
-
GRHPR p.Val77Ile
Uncertain significance
Single submitter
Nephrolithiasis/nephrocalcinosis
-
GRHPR p.Arg96Leu
Pathogenic
No assertion criteria
primary hyperoxaluria type 2
- GRHPR p.Asn250Tyr Uncertain significance No assertion criteria
-
GRHPR p.Ile15Met
Uncertain significance
No assertion criteria
primary hyperoxaluria type 2
-
GRHPR p.Thr284Ile
Uncertain significance
No assertion criteria
primary hyperoxaluria type 2
All GRHPR variants
Pathogenic 52
- c.287_287+4delinsCCC Multiple submitters primary hyperoxaluria type 2
- c.84-2A>G Multiple submitters primary hyperoxaluria type 2
- p.Arg99Ter Multiple submitters acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome
- p.Asp35fs Multiple submitters primary hyperoxaluria type 2
- p.Asp91fs Multiple submitters primary hyperoxaluria type 2
- p.Gln232fs Multiple submitters primary hyperoxaluria type 2
- p.Gln33Ter Multiple submitters primary hyperoxaluria type 2
- p.Glu113Ter Multiple submitters primary hyperoxaluria type 2
- p.Gly165Asp Multiple submitters primary hyperoxaluria
- p.Thr152fs Multiple submitters primary hyperoxaluria type 2
- p.Val289fs Multiple submitters primary hyperoxaluria
- c.215_493del Single submitter primary hyperoxaluria type 2
- c.404+1G>A Single submitter primary hyperoxaluria type 2
- c.734+1del Single submitter
- c.735-1G>C Single submitter
- c.735-2A>G Single submitter
- c.84-12_84-5delinsTTT Single submitter primary hyperoxaluria type 2
- p.Ala257fs Single submitter primary hyperoxaluria type 2
- p.Arg5Ter Single submitter
- p.Asn312fs Single submitter
- p.Asp252fs Single submitter primary hyperoxaluria type 2
- p.Asp37fs Single submitter primary hyperoxaluria type 2
- p.Gln178fs Single submitter
- p.Glu92Ter Single submitter
- p.Gly136fs Single submitter
- p.His53delinsSerProSerLeuProArgSerTer Single submitter
- p.Ile168fs Single submitter primary hyperoxaluria type 2
- p.Leu126fs Single submitter primary hyperoxaluria type 2
- p.Leu23Pro Single submitter primary hyperoxaluria type 2
- p.Leu254Pro Single submitter primary hyperoxaluria type 2
- p.Leu276fs Single submitter
- p.Leu317fs Single submitter
- p.Lys262fs Single submitter primary hyperoxaluria type 2
- p.Lys65Ter Single submitter
- p.Met1Val Single submitter primary hyperoxaluria type 2
- p.Phe10fs Single submitter
- p.Ser244fs Single submitter
- p.Ser306fs Single submitter
- p.Ser36Ter Single submitter
- p.Thr121fs Single submitter
- p.Thr298fs Single submitter primary hyperoxaluria type 2
- p.Trp138Ter Single submitter
- p.Trp141Ter Single submitter
- p.Val116_Ser117delinsAspProArgArgAlaLysThrAlaValTrpArgLeuTrpValTrpGlySerAlaSerLysAlaLeuGlySerProAlaLeuProGlnProCysSerValThrSerSerLysThrLeuProLeuLeuGlyValCysValValTer Single submitter
- p.Val116fs Single submitter
- c.288-2_288del No assertion criteria primary hyperoxaluria type 2
- c.866_867delTG No assertion criteria primary hyperoxaluria type 2
- p.Ala17fs No assertion criteria primary hyperoxaluria type 2
- p.Arg96Leu No assertion criteria primary hyperoxaluria type 2 ⚠
- p.Leu68Pro No assertion criteria primary hyperoxaluria type 2
- p.Met322Thr No assertion criteria primary hyperoxaluria type 2
- p.Val83fs No assertion criteria primary hyperoxaluria type 2
Pathogenic/Likely pathogenic 28
- c.404+3_404+6del Multiple submitters primary hyperoxaluria type 2
- c.404+5G>A Multiple submitters primary hyperoxaluria type 2
- c.493+2T>A Multiple submitters primary hyperoxaluria type 2
- c.494-2A>G Multiple submitters primary hyperoxaluria type 2
- c.734+1G>A Multiple submitters primary hyperoxaluria type 2
- c.735-1G>A Multiple submitters primary hyperoxaluria type 2
- c.83+1G>C Multiple submitters primary hyperoxaluria type 2
- c.865+1G>A Multiple submitters primary hyperoxaluria type 2
- c.865+1G>T Multiple submitters primary hyperoxaluria type 2
- p.Ala197fs Multiple submitters primary hyperoxaluria type 2
- p.Ala206fs Multiple submitters primary hyperoxaluria type 2
- p.Ala52fs Multiple submitters primary hyperoxaluria type 2
- p.Arg302Cys Multiple submitters primary hyperoxaluria type 2
- p.Arg47Ter Multiple submitters GRHPR-related disorder
- p.Gln166Ter Multiple submitters primary hyperoxaluria type 2
- p.Gln208Ter Multiple submitters primary hyperoxaluria type 2
- p.Glu198fs Multiple submitters primary hyperoxaluria type 2
- p.Glu320Ter Multiple submitters primary hyperoxaluria type 2
- p.His87fs Multiple submitters primary hyperoxaluria type 2
- p.Ile93fs Multiple submitters primary hyperoxaluria type 2
- p.Leu181fs Multiple submitters primary hyperoxaluria type 2
- p.Pro203fs Multiple submitters primary hyperoxaluria type 2
- p.Ser209Phe Multiple submitters primary hyperoxaluria type 2
- p.Trp138Arg Multiple submitters primary hyperoxaluria type 2
- p.Trp34_Glu38delinsTer Multiple submitters primary hyperoxaluria type 2
- p.Trp34fs Multiple submitters primary hyperoxaluria type 2
- p.Trp34Ter Multiple submitters primary hyperoxaluria type 2
- p.Val77fs Multiple submitters primary hyperoxaluria type 2
Likely pathogenic 75
- c.206_214+11del Multiple submitters primary hyperoxaluria type 2
- c.735-2del Multiple submitters primary hyperoxaluria type 2
- c.-4_-3delinsAT Multiple submitters primary hyperoxaluria type 2
- p.Arg124Cys Multiple submitters primary hyperoxaluria type 2
- p.Asp269Gly Multiple submitters primary hyperoxaluria type 2
- p.Glu113Lys Multiple submitters primary hyperoxaluria type 2
- p.Met322Arg Multiple submitters primary hyperoxaluria type 2
- p.Ser140Leu Multiple submitters primary hyperoxaluria type 2 ⚠
- p.Ser260fs Multiple submitters primary hyperoxaluria type 2
- p.Thr202fs Multiple submitters primary hyperoxaluria type 2
- c.107_214+25del Single submitter
- c.214+1G>A Single submitter primary hyperoxaluria type 2
- c.214+1G>T Single submitter primary hyperoxaluria type 2
- c.214+2T>G Single submitter primary hyperoxaluria type 2
- c.215-2_215-1del Single submitter primary hyperoxaluria type 2
- c.287+2T>C Single submitter primary hyperoxaluria type 2
- c.288-1G>C Single submitter primary hyperoxaluria type 2
- c.403_404+1del Single submitter primary hyperoxaluria type 2
- c.404+1G>T Single submitter
- c.405-1G>C Single submitter
- c.493+1G>A Single submitter primary hyperoxaluria type 2
- c.598+1G>T Single submitter primary hyperoxaluria type 2
- c.599-1G>A Single submitter primary hyperoxaluria type 2
- c.599-1G>C Single submitter primary hyperoxaluria type 2
- c.737dup Single submitter primary hyperoxaluria type 2
- c.83+1G>A Single submitter primary hyperoxaluria type 2
- c.865+1del Single submitter primary hyperoxaluria type 2
- c.865+2T>C Single submitter primary hyperoxaluria type 2
- c.866-2A>G Single submitter primary hyperoxaluria type 2
- c.866-34_866-8del Single submitter primary hyperoxaluria type 2
- p.Ala167fs Single submitter primary hyperoxaluria type 2
- p.Ala297Thr Single submitter primary hyperoxaluria type 2
- p.Arg179fs Single submitter primary hyperoxaluria type 2
- p.Arg318fs Single submitter primary hyperoxaluria type 2
- p.Arg96His Single submitter primary hyperoxaluria type 2 ⚠
- p.Asn311fs Single submitter primary hyperoxaluria type 2
- p.Asn312Asp Single submitter primary hyperoxaluria type 2
- p.Asp109fs Single submitter primary hyperoxaluria type 2
- p.Cys147fs Single submitter primary hyperoxaluria type 2
- p.Cys226fs Single submitter primary hyperoxaluria type 2
- p.Cys288fs Single submitter primary hyperoxaluria type 2
- p.Cys57Tyr Single submitter primary hyperoxaluria type 2
- p.Gln153Ter Single submitter primary hyperoxaluria type 2
- p.Gln196fs Single submitter primary hyperoxaluria type 2
- p.Gln33fs Single submitter primary hyperoxaluria type 2
- p.Glu113fs Single submitter primary hyperoxaluria type 2
- p.Glu46Ter Single submitter primary hyperoxaluria type 2
- p.Gly261fs Single submitter primary hyperoxaluria type 2
- p.Gly84fs Single submitter primary hyperoxaluria type 2
- p.His87_Asp91del Single submitter primary hyperoxaluria type 2
- p.Leu107fs Single submitter primary hyperoxaluria type 2
- p.Leu118fs Single submitter primary hyperoxaluria type 2
- p.Leu282_Leu283insTer Single submitter primary hyperoxaluria type 2
- p.Leu291fs Single submitter primary hyperoxaluria type 2
- p.Leu59fs Single submitter primary hyperoxaluria type 2
- p.Lys262Ter Single submitter primary hyperoxaluria type 2
- p.Met322fs Single submitter primary hyperoxaluria type 2
- p.Phe199fs Single submitter primary hyperoxaluria type 2
- p.Ser117fs Single submitter primary hyperoxaluria type 2
- p.Tyr102Ter Single submitter primary hyperoxaluria type 2
- p.Val21fs Single submitter primary hyperoxaluria type 2
- c.214+1G>C No assertion criteria primary hyperoxaluria type 2
- c.405-1G>A No assertion criteria primary hyperoxaluria type 2
- c.598+1del No assertion criteria primary hyperoxaluria type 2
- p.Asn135fs No assertion criteria primary hyperoxaluria type 2
- p.Asp269His No assertion criteria primary hyperoxaluria type 2
- p.Gln166fs No assertion criteria primary hyperoxaluria type 2
- p.Glu320fs No assertion criteria primary hyperoxaluria type 2
- p.Leu120Pro No assertion criteria primary hyperoxaluria type 2
- p.Leu172fs No assertion criteria primary hyperoxaluria type 2
- p.Met1Arg No assertion criteria primary hyperoxaluria type 2
- p.Met1Leu No assertion criteria primary hyperoxaluria type 2
- p.Thr284fs No assertion criteria primary hyperoxaluria type 2
- p.Trp145fs No assertion criteria primary hyperoxaluria type 2
- p.Val63fs No assertion criteria primary hyperoxaluria type 2
Conflicting classifications of pathogenicity 23
- c.84-8_84-5del Single submitter primary hyperoxaluria type 2
- p.Ala112= Single submitter Nephrolithiasis/nephrocalcinosis
- p.Ala115Glu Single submitter primary hyperoxaluria type 2 ⚠
- p.Ala115Thr Single submitter Nephrolithiasis/nephrocalcinosis ⚠
- p.Ala193Val Single submitter Nephrolithiasis/nephrocalcinosis ⚠
- p.Arg302His Single submitter primary hyperoxaluria type 2 ⚠
- p.Arg302Pro Single submitter primary hyperoxaluria type 2 ⚠
- p.Arg96Cys Single submitter primary hyperoxaluria type 2 ⚠
- p.Asp247Gly Single submitter primary hyperoxaluria type 2 ⚠
- p.Asp61Asn Single submitter primary hyperoxaluria type 2 ⚠
- p.Glu131Lys Single submitter Nephrolithiasis/nephrocalcinosis ⚠
- p.Glu223Lys Single submitter Nephrolithiasis/nephrocalcinosis ⚠
- p.Gly160Arg Single submitter primary hyperoxaluria type 2 ⚠
- p.Gly267= Single submitter Nephrolithiasis/nephrocalcinosis
- p.Gly319Trp Single submitter primary hyperoxaluria type 2 ⚠
- p.Ile85= Single submitter Nephrolithiasis/nephrocalcinosis
- p.Lys228Glu Single submitter primary hyperoxaluria type 2 ⚠
- p.Phe230Leu Single submitter primary hyperoxaluria type 2 ⚠
- p.Pro127Leu Single submitter Nephrolithiasis/nephrocalcinosis ⚠
- p.Thr222= Single submitter Nephrolithiasis/nephrocalcinosis
- p.Val156= Single submitter Nephrolithiasis/nephrocalcinosis
- p.Val248Asp Single submitter primary hyperoxaluria type 2 ⚠
- p.Val248Ile Single submitter primary hyperoxaluria type 2 ⚠
Benign 19
- c.287+135G>C Multiple submitters
- c.287+161A>G Multiple submitters
- c.288-11C>T Multiple submitters primary hyperoxaluria type 2
- c.404+153T>C Multiple submitters primary hyperoxaluria type 2
- c.404+291T>C Multiple submitters primary hyperoxaluria type 2
- c.494-232C>T Multiple submitters
- c.494-328C>T Multiple submitters
- c.494-68A>G Multiple submitters primary hyperoxaluria type 2
- c.865+129T>C Multiple submitters
- c.866-25CT[9] Multiple submitters primary hyperoxaluria type 2
- c.-92C>T Multiple submitters primary hyperoxaluria type 2
- c.214+270C>G Single submitter
- c.404+307dup Single submitter
- c.493+20G>A Single submitter
- c.83+52del Single submitter primary hyperoxaluria type 2
- c.866-25CT[5] Single submitter
- p.Ala129= Single submitter primary hyperoxaluria type 2
- p.Ile212= Single submitter primary hyperoxaluria type 2
- p.Leu291= Single submitter primary hyperoxaluria type 2
Benign/Likely benign 10
- c.493+9C>T Multiple submitters primary hyperoxaluria type 2
- c.734+9G>A Multiple submitters primary hyperoxaluria type 2
- c.*146A>G Multiple submitters primary hyperoxaluria type 2
- p.Arg170Gln Multiple submitters primary hyperoxaluria type 2 ⚠
- p.Arg171His Multiple submitters primary hyperoxaluria type 2 ⚠
- p.Ile78= Multiple submitters primary hyperoxaluria type 2
- p.Leu119= Multiple submitters Nephrolithiasis/nephrocalcinosis
- p.Leu6Phe Multiple submitters primary hyperoxaluria type 2
- p.Pro321= Multiple submitters primary hyperoxaluria type 2
- p.Pro321Leu Multiple submitters Nephrolithiasis/nephrocalcinosis ⚠
Likely benign 252
- c.735-149A>G Multiple submitters
- c.84-4G>A Multiple submitters Nephrolithiasis/nephrocalcinosis
- p.Ala115= Multiple submitters Nephrolithiasis/nephrocalcinosis
- p.Asn287= Multiple submitters Nephrolithiasis/nephrocalcinosis
- p.Asp247= Multiple submitters Nephrolithiasis/nephrocalcinosis
- p.Glu128= Multiple submitters Nephrolithiasis/nephrocalcinosis
- p.Gly246= Multiple submitters Nephrolithiasis/nephrocalcinosis
- p.His53= Multiple submitters Nephrolithiasis/nephrocalcinosis
- p.Ile130= Multiple submitters primary hyperoxaluria type 2
- p.Leu282Phe Multiple submitters primary hyperoxaluria type 2 ⚠
- p.Pro3= Multiple submitters Nephrolithiasis/nephrocalcinosis
- p.Ser36= Multiple submitters Nephrolithiasis/nephrocalcinosis
- p.Ser60= Multiple submitters primary hyperoxaluria type 2
- p.Thr152= Multiple submitters Nephrolithiasis/nephrocalcinosis
- p.Val213Ile Multiple submitters Nephrolithiasis/nephrocalcinosis
- p.Val248= Multiple submitters Nephrolithiasis/nephrocalcinosis
- p.Val31= Multiple submitters Nephrolithiasis/nephrocalcinosis
- p.Val77= Multiple submitters Nephrolithiasis/nephrocalcinosis
- c.214+10G>A Single submitter
- c.214+16G>A Single submitter
- c.214+20G>A Single submitter
- c.214+7A>C Single submitter
- c.214+8C>T Single submitter
- c.214+9T>C Single submitter
- c.214+9T>G Single submitter
- c.215-13T>C Single submitter
- c.215-14T>C Single submitter
- c.215-15C>G Single submitter
- c.215-16A>G Single submitter
- c.215-17C>T Single submitter
- c.215-18G>A Single submitter
- c.215-20A>T Single submitter
- c.215-21_215-20del Single submitter
- c.215-5A>C Single submitter
- c.215-7A>G Single submitter
- c.287+12T>G Single submitter
- c.287+13T>A Single submitter
- c.287+15G>A Single submitter
- c.287+15G>C Single submitter
- c.287+18T>G Single submitter
- c.287+7G>T Single submitter primary hyperoxaluria type 2
- c.287+8C>A Single submitter
- c.287+9A>G Single submitter
- c.288-13G>A Single submitter
- c.288-18del Single submitter
- c.288-4G>A Single submitter
- c.288-5C>T Single submitter
- c.288-7_288-6insA Single submitter
- c.288-8A>T Single submitter
- c.288-9G>C Single submitter
- c.404+10C>T Single submitter
- c.404+11G>A Single submitter
- c.404+15A>T Single submitter
- c.404+16C>G Single submitter
- c.404+18A>G Single submitter
- c.404+19G>A Single submitter
- c.404+20G>T Single submitter
- c.404+8A>G Single submitter
- c.404+9A>G Single submitter
- c.405-10C>T Single submitter
- c.405-14C>G Single submitter
- c.405-15del Single submitter
- c.405-16C>T Single submitter
- c.405-16CT[3] Single submitter
- c.405-16CT[5] Single submitter
- c.405-17C>G Single submitter
- c.405-19C>A Single submitter
- c.405-20G>A Single submitter
- c.405-5C>T Single submitter
- c.405-6C>T Single submitter
- c.405-8C>T Single submitter
- c.405-9T>C Single submitter
- c.493+13C>A Single submitter
- c.493+13C>T Single submitter
- c.493+14C>T Single submitter
- c.493+14del Single submitter
- c.493+15G>A Single submitter
- c.493+15G>T Single submitter
- c.493+19C>A Single submitter
- c.493+19C>T Single submitter
- c.493+7C>A Single submitter
- c.493+7C>T Single submitter
- c.494-10C>T Single submitter
- c.494-12T>A Single submitter
- c.494-17G>T Single submitter
- c.494-20A>G Single submitter
- c.494-4C>G Single submitter
- c.494-4C>T Single submitter primary hyperoxaluria type 2
- c.494-6C>T Single submitter
- c.599-12G>T Single submitter
- c.599-15C>G Single submitter
- c.599-15C>T Single submitter
- c.599-17G>C Single submitter
- c.599-19G>C Single submitter
- c.599-19G>T Single submitter
- c.599-6C>A Single submitter
- c.599-8T>C Single submitter
- c.599-9C>A Single submitter
- c.599-9C>G Single submitter
- c.599-9C>T Single submitter
- c.734+13C>G Single submitter
- c.734+14A>G Single submitter
- c.734+15C>T Single submitter
- c.734+20C>A Single submitter
- c.734+20C>T Single submitter
- c.734+22dup Single submitter
- c.734+8A>G Single submitter
- c.735-3del Single submitter
- c.735-4C>T Single submitter
- c.735-5C>T Single submitter
- c.83+11C>T Single submitter
- c.83+15C>T Single submitter
- c.83+18C>A Single submitter
- c.83+18C>T Single submitter
- c.84-16C>T Single submitter
- c.84-5C>T Single submitter
- c.865+10G>A Single submitter
- c.865+11C>T Single submitter
- c.865+14T>C Single submitter
- c.865+16T>C Single submitter
- c.865+8C>T Single submitter
- c.866-10T>C Single submitter
- c.866-12T>C Single submitter
- c.866-14T>C Single submitter
- c.866-16_866-15insTT Single submitter
- c.866-18T>C Single submitter
- c.866-19C>G Single submitter
- c.866-25CT[3] Single submitter
- c.866-25CT[4] Single submitter
- c.866-25CT[6] Single submitter
- c.866-7_866-3del Single submitter
- c.866-8_866-6del Single submitter
- c.866-8C>T Single submitter
- c.866-9_866-8dup Single submitter
- c.866-9C>T Single submitter
- p.Ala167= Single submitter
- p.Ala17= Single submitter
- p.Ala207= Single submitter
- p.Ala215= Single submitter
- p.Ala22= Single submitter
- p.Ala221= Single submitter
- p.Ala257= Single submitter primary hyperoxaluria type 2
- p.Ala259= Single submitter
- p.Ala265= Single submitter
- p.Ala27= Single submitter
- p.Ala309= Single submitter
- p.Ala50= Single submitter
- p.Arg13= Single submitter
- p.Arg170= Single submitter
- p.Arg188= Single submitter
- p.Arg2= Single submitter
- p.Arg25= Single submitter primary hyperoxaluria type 2
- p.Arg318= Single submitter
- p.Arg47= Single submitter
- p.Asn227= Single submitter
- p.Asn242= Single submitter
- p.Asn250= Single submitter
- p.Asp229= Single submitter
- p.Asp252= Single submitter primary hyperoxaluria type 2
- p.Asp61= Single submitter
- p.Asp69= Single submitter
- p.Asp86= Single submitter
- p.Cys123= Single submitter
- p.Cys216= Single submitter
- p.Cys226= Single submitter primary hyperoxaluria type 2
- p.Gln178= Single submitter
- p.Gln251= Single submitter
- p.Gln33= Single submitter
- p.Glu132= Single submitter
- p.Glu190= Single submitter
- p.Glu38= Single submitter
- p.Gly101= Single submitter
- p.Gly160= Single submitter
- p.Gly162= Single submitter
- p.Gly176= Single submitter
- p.Gly184= Single submitter
- p.Gly19= Single submitter
- p.Gly319= Single submitter
- p.Gly54= Single submitter
- p.Gly72= Single submitter
- p.Gly84= Single submitter primary hyperoxaluria type 2
- p.His299= Single submitter
- p.His62= Single submitter
- p.Ile158= Single submitter primary hyperoxaluria type 2
- p.Ile159= Single submitter
- p.Ile243= Single submitter
- p.Ile290= Single submitter
- p.Ile40= Single submitter
- p.Leu114= Single submitter
- p.Leu118= Single submitter
- p.Leu126= Single submitter
- p.Leu144= Single submitter
- p.Leu146= Single submitter
- p.Leu151= Single submitter
- p.Leu161= Single submitter
- p.Leu181= Single submitter
- p.Leu23= Single submitter
- p.Leu254= Single submitter
- p.Leu268= Single submitter
- p.Leu276= Single submitter
- p.Leu282= Single submitter primary hyperoxaluria type 2
- p.Leu285= Single submitter
- p.Leu307= Single submitter
- p.Leu313= Single submitter
- p.Leu314= Single submitter
- p.Leu326= Single submitter
- p.Leu328= Single submitter
- p.Leu59= Single submitter
- p.Leu68= Single submitter
- p.Lys235= Single submitter
- p.Lys43= Single submitter
- p.Lys76= Single submitter
- p.Phe175= Single submitter
- p.Pro127= Single submitter primary hyperoxaluria type 2
- p.Pro143= Single submitter
- p.Pro16= Single submitter
- p.Pro174= Single submitter
- p.Pro187= Single submitter
- p.Pro203= Single submitter
- p.Pro281= Single submitter
- p.Pro292= Single submitter
- p.Pro323= Single submitter
- p.Pro39= Single submitter
- p.Ser117= Single submitter
- p.Ser140= Single submitter
- p.Ser201= Single submitter
- p.Thr103= Single submitter
- p.Thr111= Single submitter
- p.Thr12= Single submitter
- p.Thr121= Single submitter
- p.Thr139= Single submitter
- p.Thr237= Single submitter
- p.Thr271= Single submitter
- p.Thr278= Single submitter
- p.Thr284= Single submitter
- p.Thr298= Single submitter
- p.Tyr149= Single submitter
- p.Tyr182= Single submitter
- p.Tyr255= Single submitter
- p.Val11= Single submitter
- p.Val116= Single submitter
- p.Val200= Single submitter
- p.Val21= Single submitter primary hyperoxaluria type 2
- p.Val213= Single submitter
- p.Val214= Single submitter
- p.Val289= Single submitter
- p.Val4= Single submitter
- p.Val9= Single submitter
- c.83+51_83+52delinsA No assertion criteria primary hyperoxaluria type 2
- c.83+51G>A No assertion criteria primary hyperoxaluria type 2
- c.-3C>T No assertion criteria GRHPR-related disorder
- c.-4G>A No assertion criteria GRHPR-related disorder
Uncertain significance 132
- c.215-13_215-7del Multiple submitters primary hyperoxaluria type 2
- c.286_287+1del Multiple submitters primary hyperoxaluria type 2
- p.Ala50Val Multiple submitters primary hyperoxaluria type 2 ⚠
- p.Arg125Gln Multiple submitters primary hyperoxaluria type 2 ⚠
- p.Arg163Cys Multiple submitters primary hyperoxaluria type 2 ⚠
- p.Arg171Cys Multiple submitters primary hyperoxaluria type 2 ⚠
- p.Arg185Cys Multiple submitters Nephrolithiasis/nephrocalcinosis ⚠
- p.Arg99Gln Multiple submitters Nephrolithiasis/nephrocalcinosis ⚠
- p.Cys29Arg Multiple submitters primary hyperoxaluria type 2 ⚠
- p.Cys29Tyr Multiple submitters primary hyperoxaluria type 2 ⚠
- p.Gly176Ser Multiple submitters Nephrolithiasis/nephrocalcinosis ⚠
- p.Gly54Ser Multiple submitters Nephrolithiasis/nephrocalcinosis ⚠
- p.Ile164Val Multiple submitters Nephrolithiasis/nephrocalcinosis ⚠
- p.Ile263Thr Multiple submitters Nephrolithiasis/nephrocalcinosis ⚠
- p.Ile40Thr Multiple submitters Nephrolithiasis/nephrocalcinosis ⚠
- p.Lys142Asn Multiple submitters Nephrolithiasis/nephrocalcinosis ⚠
- p.Met234Thr Multiple submitters primary hyperoxaluria type 2 ⚠
- p.Met322Ile Multiple submitters Nephrolithiasis/nephrocalcinosis ⚠
- p.Pro3Leu Multiple submitters Nephrolithiasis/nephrocalcinosis ⚠
- p.Ser201Pro Multiple submitters primary hyperoxaluria type 2 ⚠
- p.Thr108Ile Multiple submitters Nephrolithiasis/nephrocalcinosis ⚠
- p.Thr271Met Multiple submitters Nephrolithiasis/nephrocalcinosis ⚠
- p.Val249Ile Multiple submitters Nephrolithiasis/nephrocalcinosis ⚠
- p.Val270Met Multiple submitters primary hyperoxaluria type 2 ⚠
- c.215-4A>G Single submitter primary hyperoxaluria type 2
- c.493+27C>T Single submitter primary hyperoxaluria type 2
- c.598+145G>T Single submitter primary hyperoxaluria type 2
- c.599-6C>G Single submitter primary hyperoxaluria type 2
- c.83+3A>G Single submitter primary hyperoxaluria type 2
- c.83+5G>C Single submitter primary hyperoxaluria type 2
- c.*132T>C Single submitter primary hyperoxaluria type 2
- c.*24G>A Single submitter primary hyperoxaluria type 2
- p.Ala112Thr Single submitter primary hyperoxaluria type 2 ⚠
- p.Ala169Pro Single submitter Nephrolithiasis/nephrocalcinosis ⚠
- p.Ala17Gly Single submitter Nephrolithiasis/nephrocalcinosis ⚠
- p.Ala221Gly Single submitter ⚠
- p.Ala24Pro Single submitter primary hyperoxaluria type 2 ⚠
- p.Ala27Val Single submitter Nephrolithiasis/nephrocalcinosis ⚠
- p.Ala309Val Single submitter Nephrolithiasis/nephrocalcinosis ⚠
- p.Ala42Val Single submitter ⚠
- p.Ala50Gly Single submitter Nephrolithiasis/nephrocalcinosis ⚠
- p.Ala50Thr Single submitter Nephrolithiasis/nephrocalcinosis ⚠
- p.Ala52= Single submitter primary hyperoxaluria type 2
- p.Ala52Ser Single submitter Nephrolithiasis/nephrocalcinosis ⚠
- p.Ala71Thr Single submitter primary hyperoxaluria type 2 ⚠
- p.Ala89Pro Single submitter primary hyperoxaluria type 2 ⚠
- p.Arg124His Single submitter ⚠
- p.Arg163His Single submitter primary hyperoxaluria type 2 ⚠
- p.Arg185His Single submitter primary hyperoxaluria type 2 ⚠
- p.Arg245Ser Single submitter ⚠
- p.Arg47Gln Single submitter ⚠
- p.Arg96= Single submitter
- p.Arg99Leu Single submitter Nephrolithiasis/nephrocalcinosis ⚠
- p.Asn287His Single submitter Nephrolithiasis/nephrocalcinosis ⚠
- p.Asn312_Leu313insAsn Single submitter primary hyperoxaluria type 2
- p.Asp210Asn Single submitter primary hyperoxaluria type 2 ⚠
- p.Asp247_Val248delinsGlyAsp Single submitter primary hyperoxaluria type 2
- p.Asp253Asn Single submitter Nephrolithiasis/nephrocalcinosis ⚠
- p.Asp253Glu Single submitter primary hyperoxaluria type 2 ⚠
- p.Asp86His Single submitter primary hyperoxaluria type 2 ⚠
- p.Asp91Gly Single submitter primary hyperoxaluria type 2 ⚠
- p.Cys57Ser Single submitter Nephrolithiasis/nephrocalcinosis ⚠
- p.Gln33Arg Single submitter primary hyperoxaluria type 2 ⚠
- p.Glu18= Single submitter primary hyperoxaluria type 2
- p.Glu18Lys Single submitter primary hyperoxaluria type 2 ⚠
- p.Glu223Gln Single submitter Nephrolithiasis/nephrocalcinosis ⚠
- p.Glu38Gly Single submitter primary hyperoxaluria type 2 ⚠
- p.Gly176Cys Single submitter Nephrolithiasis/nephrocalcinosis ⚠
- p.Gly184Glu Single submitter primary hyperoxaluria type 2 ⚠
- p.Gly19Asp Single submitter ⚠
- p.Gly261Val Single submitter primary hyperoxaluria type 2 ⚠
- p.Gly319Arg Single submitter primary hyperoxaluria type 2 ⚠
- p.Gly48Asp Single submitter primary hyperoxaluria type 2 ⚠
- p.Gly48Val Single submitter Nephrolithiasis/nephrocalcinosis ⚠
- p.Gly54Arg Single submitter ⚠
- p.His53Asp Single submitter primary hyperoxaluria type 2 ⚠
- p.Ile15Leu Single submitter ⚠
- p.Ile15Thr Single submitter primary hyperoxaluria type 2 ⚠
- p.Ile168Val Single submitter Nephrolithiasis/nephrocalcinosis ⚠
- p.Ile263Val Single submitter Nephrolithiasis/nephrocalcinosis ⚠
- p.Ile294Thr Single submitter Nephrolithiasis/nephrocalcinosis ⚠
- p.Ile67Leu Single submitter primary hyperoxaluria type 2 ⚠
- p.Leu144Arg Single submitter Nephrolithiasis/nephrocalcinosis ⚠
- p.Leu144Val Single submitter Nephrolithiasis/nephrocalcinosis ⚠
- p.Leu268Val Single submitter Nephrolithiasis/nephrocalcinosis ⚠
- p.Leu283Arg Single submitter Nephrolithiasis/nephrocalcinosis ⚠
- p.Leu307Phe Single submitter Nephrolithiasis/nephrocalcinosis ⚠
- p.Leu317Pro Single submitter Nephrolithiasis/nephrocalcinosis ⚠
- p.Leu58Ile Single submitter Nephrolithiasis/nephrocalcinosis ⚠
- p.Lys286Arg Single submitter Nephrolithiasis/nephrocalcinosis ⚠
- p.Lys286Asn Single submitter primary hyperoxaluria type 2 ⚠
- p.Lys95Asn Single submitter Nephrolithiasis/nephrocalcinosis ⚠
- p.Phe231del Single submitter
- p.Pro321Ala Single submitter primary hyperoxaluria type 2 ⚠
- p.Pro41Leu Single submitter ⚠
- p.Ser117Pro Single submitter primary hyperoxaluria type 2 ⚠
- p.Ser154Thr Single submitter primary hyperoxaluria type 2 ⚠
- p.Thr103Ile Single submitter primary hyperoxaluria type 2 ⚠
- p.Thr111Ala Single submitter Nephrolithiasis/nephrocalcinosis ⚠
- p.Thr12Ala Single submitter Nephrolithiasis/nephrocalcinosis ⚠
- p.Thr152Arg Single submitter Nephrolithiasis/nephrocalcinosis ⚠
- p.Thr219Ile Single submitter primary hyperoxaluria type 2 ⚠
- p.Thr284Asn Single submitter primary hyperoxaluria type 2 ⚠
- p.Trp34Gly Single submitter ⚠
- p.Tyr102Cys Single submitter Nephrolithiasis/nephrocalcinosis ⚠
- p.Tyr149Cys Single submitter Nephrolithiasis/nephrocalcinosis ⚠
- p.Val100Ala Single submitter Nephrolithiasis/nephrocalcinosis ⚠
- p.Val213Ala Single submitter primary hyperoxaluria type 2 ⚠
- p.Val21Ile Single submitter primary hyperoxaluria type 2 ⚠
- p.Val31_Trp34del Single submitter
- p.Val49Met Single submitter primary hyperoxaluria type 2 ⚠
- p.Val63Met Single submitter ⚠
- p.Val77Ile Single submitter Nephrolithiasis/nephrocalcinosis ⚠
- c.215-11C>T No assertion criteria primary hyperoxaluria type 2
- c.494-6C>A No assertion criteria primary hyperoxaluria type 2
- c.83+7G>T No assertion criteria primary hyperoxaluria type 2
- c.865+2dup No assertion criteria primary hyperoxaluria type 2
- c.865+5G>T No assertion criteria primary hyperoxaluria type 2
- p.Ala17Val No assertion criteria primary hyperoxaluria type 2 ⚠
- p.Ala193= No assertion criteria primary hyperoxaluria type 2
- p.Arg5Gln No assertion criteria primary hyperoxaluria type 2 ⚠
- p.Asn250Tyr No assertion criteria ⚠
- p.Gln153_Thr155del No assertion criteria primary hyperoxaluria type 2
- p.Ile15Met No assertion criteria primary hyperoxaluria type 2 ⚠
- p.Leu282Pro No assertion criteria primary hyperoxaluria type 2 ⚠
- p.Leu291Pro No assertion criteria primary hyperoxaluria type 2 ⚠
- p.Leu59Phe No assertion criteria GRHPR-related disorder ⚠
- p.Pro292Ser No assertion criteria primary hyperoxaluria type 2 ⚠
- p.Ser154Asn No assertion criteria primary hyperoxaluria type 2 ⚠
- p.Ter329Trp No assertion criteria primary hyperoxaluria type 2
- p.Thr202= No assertion criteria primary hyperoxaluria type 2
- p.Thr284Ile No assertion criteria primary hyperoxaluria type 2 ⚠