Total 464 pathogenic variants reported for Primary hyperoxaluria, type I 
Variant Name Variant Type Variant Genomic Location Clinical Significance Phenotype Condition Review Status ClinGen Allele dbSNP ID Variation/condition record
NM_012203.2(GRHPR):c.295C>T (p.Arg99Ter) SNV
Germline		 Chr9:37426545 Pathogenic Primary hyperoxaluria, type II
Condition: not provided
Primary hyperoxaluria		 Criteria Provided
Multiple Submitters
No Conflicts
 CA253540 rs_119490108

10 SubmittersRCV000005991RCV000579200RCV000590094
NM_000030.3(AGXT):c.613T>C (p.Ser205Pro) SNV
Germline		 Chr2:240873995 Pathogenic/Likely pathogenic Primary hyperoxaluria, type I
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA340441 rs_121908520

8 SubmittersRCV000005994RCV000420710
NM_000030.3(AGXT):c.198C>G (p.Tyr66Ter) SNV
Germline		 Chr2:240869202 Pathogenic Primary hyperoxaluria, type I
Condition: not provided		 Criteria Provided
Single Submitter
 CA253542 rs_121908521

3 SubmittersRCV000005996RCV003555932
NM_000030.3(AGXT):c.245G>A (p.Gly82Glu) SNV
Germline		 Chr2:240869249 Pathogenic/Likely pathogenic Primary hyperoxaluria, type I
Condition: not provided
Primary hyperoxaluria		 Criteria Provided
Multiple Submitters
No Conflicts
 CA340442 rs_121908522

9 SubmittersRCV000005997RCV001851685RCV003234894
NM_000030.3(AGXT):c.121G>A (p.Gly41Arg) SNV
Germline		 Chr2:240868986 Pathogenic Primary hyperoxaluria, type I
Nephrolithiasis
Nephrocalcinosis
Condition: not provided
Primary hyperoxaluria		 Criteria Provided
Multiple Submitters
No Conflicts
 CA340443 rs_121908523

12 SubmittersRCV000005998RCV000662315RCV001221086RCV002509145
NM_000030.3(AGXT):c.454T>A (p.Phe152Ile) SNV
Germline		 Chr2:240871379 Pathogenic Primary hyperoxaluria, type I
Condition: not provided
Primary hyperoxaluria		 Criteria Provided
Multiple Submitters
No Conflicts
 CA340444 rs_121908524

11 SubmittersRCV000005999RCV000727639RCV000779687
NM_000030.3(AGXT):c.731T>C (p.Ile244Thr) SNV
Germline		 Chr2:240875159 Pathogenic Primary hyperoxaluria, type I
Primary hyperoxaluria
Nephrolithiasis
Nephrocalcinosis
Condition: not provided
AGXT-related disorder		 Criteria Provided
Multiple Submitters
No Conflicts
 CA340445 rs_121908525

15 SubmittersRCV000006000RCV000586265RCV000662316RCV001042614RCV003407286
NM_000030.3(AGXT):c.697C>T (p.Arg233Cys) SNV
Germline		 Chr2:240875125 Pathogenic/Likely pathogenic Primary hyperoxaluria, type I
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA340446 rs_121908526

9 SubmittersRCV000006001RCV001070457
NM_000030.3(AGXT):c.698G>A (p.Arg233His) SNV
Germline		 Chr2:240875126 Pathogenic/Likely pathogenic Primary hyperoxaluria, type I
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA253545 rs_121908527

6 SubmittersRCV000006002RCV001385647
NM_000030.3(AGXT):c.738G>A (p.Trp246Ter) SNV
Germline		 Chr2:240875166 Pathogenic Primary hyperoxaluria, type I
Condition: not provided		 Criteria Provided
Single Submitter
 CA340447 rs_121908528

4 SubmittersRCV000006003RCV003555933
NM_000030.3(AGXT):c.466G>A (p.Gly156Arg) SNV
Germline		 Chr2:240871391 Pathogenic Primary hyperoxaluria, type I
Condition: not provided
Primary hyperoxaluria		 Criteria Provided
Multiple Submitters
No Conflicts
 CA340448 rs_121908530

8 SubmittersRCV000006004RCV001851686RCV002265548
NM_000030.3(AGXT):c.508G>A (p.Gly170Arg) SNV
Germline		 Chr2:240871433 Pathogenic/Likely pathogenic Primary hyperoxaluria, type I
Condition: not provided
Primary hyperoxaluria
AGXT-related disorder		 Criteria Provided
Multiple Submitters
No Conflicts
 CA343785 rs_121908529

21 SubmittersRCV000032681RCV000432954RCV000589490RCV003407388
NM_021939.4(FKBP10):c.337G>A (p.Glu113Lys) SNV
Germline		 Chr17:41817149 Pathogenic/Likely pathogenic Bruck syndrome 1
Osteogenesis imperfecta type 11
Condition: not provided
Congenital adrenal hyperplasia
Primary hyperoxaluria, type II
Osteogenesis imperfecta		 Criteria Provided
Multiple Submitters
No Conflicts
 CA130860 rs_397514674

4 SubmittersRCV000034360RCV003137556RCV003556108RCV004525862RCV004541065RCV004579534
NM_000030.3(AGXT):c.560C>T (p.Ser187Phe) SNV
Germline		 Chr2:240873014 Pathogenic/Likely pathogenic Primary hyperoxaluria, type I
Primary hyperoxaluria		 Criteria Provided
Multiple Submitters
No Conflicts
 CA345702 rs_180177238

5 SubmittersRCV000128801RCV003317095
NM_012203.2(GRHPR):c.904C>T (p.Arg302Cys) SNV
Germline		 Chr9:37436699 Pathogenic/Likely pathogenic Primary hyperoxaluria, type II
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA273040 rs_180177322

8 SubmittersRCV000149443RCV000794534
NM_000030.3(AGXT):c.106C>T (p.Arg36Cys) SNV
Germline		 Chr2:240868971 Pathogenic/Likely pathogenic Primary hyperoxaluria, type I
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA274183 rs_180177157

5 SubmittersRCV000169332RCV001054309
NM_000030.3(AGXT):c.122G>T (p.Gly41Val) SNV
Germline		 Chr2:240868987 Pathogenic/Likely pathogenic Primary hyperoxaluria, type I
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA274216 rs_180177168

4 SubmittersRCV000169364RCV001386862
NM_000030.3(AGXT):c.302T>C (p.Leu101Pro) SNV
Germline		 Chr2:240869306 Pathogenic/Likely pathogenic Primary hyperoxaluria, type I
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA274058 rs_180177195

8 SubmittersRCV000169219RCV001850392
NM_000030.3(AGXT):c.322T>C (p.Trp108Arg) SNV
Germline		 Chr2:240869326 Pathogenic/Likely pathogenic Primary hyperoxaluria, type I
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA274089 rs_180177197

6 SubmittersRCV000169249RCV000812967
NM_000030.3(AGXT):c.346G>A (p.Gly116Arg) SNV
Germline		 Chr2:240869350 Pathogenic/Likely pathogenic Primary hyperoxaluria, type I
Condition: not provided
Abnormality of metabolism/homeostasis		 Criteria Provided
Multiple Submitters
No Conflicts
 CA274270 rs_180177207

7 SubmittersRCV000169408RCV001236818RCV001814082
NM_000030.3(AGXT):c.481G>T (p.Gly161Cys) SNV
Germline		 Chr2:240871406 Pathogenic/Likely pathogenic Primary hyperoxaluria, type I
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA273897 rs_180177227

5 SubmittersRCV000169046RCV001066143
NM_000030.3(AGXT):c.568G>A (p.Gly190Arg) SNV
Germline		 Chr2:240873022 Pathogenic/Likely pathogenic Primary hyperoxaluria, type I
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA274318 rs_180177239

8 SubmittersRCV000169439RCV000816747
NM_000030.3(AGXT):c.653C>T (p.Ser218Leu) SNV
Germline		 Chr2:240874035 Pathogenic/Likely pathogenic Primary hyperoxaluria, type I
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA274210 rs_180177253

6 SubmittersRCV000169358RCV001386996
NM_000030.3(AGXT):c.737G>A (p.Trp246Ter) SNV
Germline		 Chr2:240875165 Pathogenic/Likely pathogenic Primary hyperoxaluria, type I
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA274296 rs_180177259

4 SubmittersRCV000169425RCV003556212
NM_000030.3(AGXT):c.752G>A (p.Trp251Ter) SNV
Unknown		 Chr2:240875180 Likely pathogenic Primary hyperoxaluria, type I Criteria Provided
Single Submitter
 CA274094 rs_786204545

1 SubmittersRCV000169258
NM_000030.3(AGXT):c.777-1G>C SNV
Germline		 Chr2:240875934 Pathogenic/Likely pathogenic Primary hyperoxaluria, type I
Condition: not provided
Primary hyperoxaluria		 Criteria Provided
Multiple Submitters
No Conflicts
 CA273941 rs_180177267

7 SubmittersRCV000169101RCV001054661RCV001194150
NM_000030.3(AGXT):c.1049G>A (p.Gly350Asp) SNV
Germline		 Chr2:240878128 Pathogenic/Likely pathogenic Primary hyperoxaluria, type I
Condition: not provided
Primary hyperoxaluria		 Criteria Provided
Multiple Submitters
No Conflicts
 CA274217 rs_180177156

7 SubmittersRCV000169365RCV001067841RCV001328117
NM_012203.2(GRHPR):c.337G>A (p.Glu113Lys) SNV
Germline		 Chr9:37426587 Likely pathogenic Primary hyperoxaluria, type II
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA273930 rs_180177307

5 SubmittersRCV000169087RCV002517625
NM_000030.3(AGXT):c.836T>C (p.Ile279Thr) SNV
Germline		 Chr2:240875994 Conflicting classifications of pathogenicity not specified
Primary hyperoxaluria, type I
Condition: not provided
AGXT-related disorder		 Criteria Provided
Conflicting Classifications
 CA203554 rs_140992177

10 SubmittersRCV000180093RCV000186256RCV000966394RCV003937630
NM_000030.3(AGXT):c.866G>A (p.Arg289His) SNV
Germline		 Chr2:240877556 Conflicting classifications of pathogenicity Primary hyperoxaluria, type I
Condition: not provided
not specified		 Criteria Provided
Conflicting Classifications
 CA247930 rs_61729604

6 SubmittersRCV000186341RCV000587981RCV002265666
NM_000030.3(AGXT):c.2T>C (p.Met1Thr) SNV
Germline		 Chr2:240868867 Pathogenic/Likely pathogenic Primary hyperoxaluria, type I
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA275613 rs_138584408

6 SubmittersRCV000186271RCV001061218
NM_000030.3(AGXT):c.3G>T (p.Met1Ile) SNV
Germline		 Chr2:240868868 Pathogenic Primary hyperoxaluria, type I No Assertion Criteria Provided
 CA275615 rs_180177213

1 SubmittersRCV000186272
NM_000030.3(AGXT):c.28C>T (p.Pro10Ser) SNV
Germline		 Chr2:240868893 Pathogenic Primary hyperoxaluria, type I No Assertion Criteria Provided
 CA275619 rs_180177191

1 SubmittersRCV000186274
NM_000030.3(AGXT):c.32C>A (p.Pro11His) SNV
Germline		 Chr2:240868897 Conflicting classifications of pathogenicity Primary hyperoxaluria, type I
Condition: not provided
AGXT-related disorder		 Criteria Provided
Conflicting Classifications
 CA275544 rs_34116584

4 SubmittersRCV000186220RCV000884267RCV003416113
NM_000030.3(AGXT):c.32C>G (p.Pro11Arg) SNV
Germline		 Chr2:240868897 Conflicting classifications of pathogenicity Primary hyperoxaluria, type I
Primary hyperoxaluria
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA275621 rs_34116584

13 SubmittersRCV000186275RCV001553704RCV001857587
NM_000030.3(AGXT):c.35A>G (p.Lys12Arg) SNV
Germline		 Chr2:240868900 Conflicting classifications of pathogenicity Primary hyperoxaluria, type I
Condition: not provided
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 CA275546 rs_142969817

5 SubmittersRCV000186221RCV000881725RCV002516973
NM_000030.3(AGXT):c.74T>G (p.Leu25Arg) SNV
Germline		 Chr2:240868939 Pathogenic Primary hyperoxaluria, type I No Assertion Criteria Provided
 CA275623 rs_180177262

1 SubmittersRCV000186276
NM_000030.3(AGXT):c.77T>C (p.Leu26Pro) SNV
Germline		 Chr2:240868942 Pathogenic Primary hyperoxaluria, type I No Assertion Criteria Provided
 CA275625 rs_180177268

1 SubmittersRCV000186277
NM_000030.3(AGXT):c.107G>A (p.Arg36His) SNV
Germline		 Chr2:240868972 Pathogenic/Likely pathogenic Primary hyperoxaluria, type I
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA275627 rs_180177162

8 SubmittersRCV000186278RCV001383728
NM_000030.3(AGXT):c.122G>A (p.Gly41Glu) SNV
Germline		 Chr2:240868987 Pathogenic Primary hyperoxaluria, type I No Assertion Criteria Provided
 CA275629 rs_180177168

1 SubmittersRCV000186279
NM_000030.3(AGXT):c.125G>A (p.Gly42Glu) SNV
Germline		 Chr2:240868990 Pathogenic Primary hyperoxaluria, type I No Assertion Criteria Provided
 CA275631 rs_180177170

1 SubmittersRCV000186280
NM_000030.3(AGXT):c.130C>T (p.Gln44Ter) SNV
Germline		 Chr2:240868995 Pathogenic/Likely pathogenic Primary hyperoxaluria, type I Criteria Provided
Multiple Submitters
No Conflicts
 CA275633 rs_180177172

3 SubmittersRCV000186281
NM_000030.3(AGXT):c.139G>A (p.Gly47Arg) SNV
Germline		 Chr2:240869004 Pathogenic Primary hyperoxaluria, type I
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA275636 rs_180177173

3 SubmittersRCV000186282RCV001067805
NM_000030.3(AGXT):c.166-1G>A SNV
Germline		 Chr2:240869169 Pathogenic Primary hyperoxaluria, type I No Assertion Criteria Provided
 CA275803 rs_180177177

1 SubmittersRCV000186370
NM_000030.3(AGXT):c.167T>A (p.Ile56Asn) SNV
Germline		 Chr2:240869171 Conflicting classifications of pathogenicity Primary hyperoxaluria, type I
Primary hyperoxaluria
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA275638 rs_180177180

5 SubmittersRCV000186283RCV003230441RCV003229816
NM_000030.3(AGXT):c.175G>A (p.Glu59Lys) SNV
Germline		 Chr2:240869179 Pathogenic Primary hyperoxaluria, type I No Assertion Criteria Provided
 CA275640 rs_767586362

1 SubmittersRCV000186284
NM_000030.3(AGXT):c.187G>C (p.Gly63Arg) SNV
Germline		 Chr2:240869191 Pathogenic Primary hyperoxaluria, type I No Assertion Criteria Provided
 CA275642 rs_180177181

1 SubmittersRCV000186285
NM_000030.3(AGXT):c.205C>T (p.Gln69Ter) SNV
Germline		 Chr2:240869209 Pathogenic Primary hyperoxaluria, type I No Assertion Criteria Provided
 CA275644 rs_180177182

1 SubmittersRCV000186286
NM_000030.3(AGXT):c.209C>A (p.Thr70Asn) SNV
Germline		 Chr2:240869213 Likely pathogenic Primary hyperoxaluria, type I
Condition: not provided		 Criteria Provided
Single Submitter
 CA275647 rs_796052058

2 SubmittersRCV000186287RCV001857588
NM_000030.3(AGXT):c.242C>A (p.Ser81Ter) SNV
Germline		 Chr2:240869246 Pathogenic Primary hyperoxaluria, type I No Assertion Criteria Provided
 CA275649 rs_180177184

1 SubmittersRCV000186288
NM_000030.3(AGXT):c.242C>T (p.Ser81Leu) SNV
Germline		 Chr2:240869246 Pathogenic/Likely pathogenic Primary hyperoxaluria, type I
Condition: not provided
Primary hyperoxaluria		 Criteria Provided
Multiple Submitters
No Conflicts
 CA275652 rs_180177184

6 SubmittersRCV000186289RCV001386863RCV002271450
NM_000030.3(AGXT):c.244G>C (p.Gly82Arg) SNV
Germline		 Chr2:240869248 Pathogenic Primary hyperoxaluria, type I
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA275654 rs_180177185

3 SubmittersRCV000186290RCV001852424
NM_000030.3(AGXT):c.248A>G (p.His83Arg) SNV
Germline		 Chr2:240869252 Pathogenic Primary hyperoxaluria, type I No Assertion Criteria Provided
 CA275655 rs_180177186

1 SubmittersRCV000186291
NM_000030.3(AGXT):c.254C>A (p.Ala85Asp) SNV
Germline		 Chr2:240869258 Pathogenic Primary hyperoxaluria, type I No Assertion Criteria Provided
 CA275657 rs_796052059

1 SubmittersRCV000186292
NM_000030.3(AGXT):c.283G>A (p.Glu95Lys) SNV
Germline		 Chr2:240869287 Pathogenic Primary hyperoxaluria, type I
Condition: not provided		 Criteria Provided
Single Submitter
 CA275659 rs_180177189

2 SubmittersRCV000186293RCV001352204
NM_000030.3(AGXT):c.323G>A (p.Trp108Ter) SNV
Germline		 Chr2:240869327 Pathogenic Primary hyperoxaluria, type I
Condition: not provided		 Criteria Provided
Single Submitter
 CA275661 rs_180177198

2 SubmittersRCV000186294RCV001384602
NM_000030.3(AGXT):c.324G>T (p.Trp108Cys) SNV
Germline		 Chr2:240869328 Pathogenic Primary hyperoxaluria, type I No Assertion Criteria Provided
 CA275664 rs_796052060

1 SubmittersRCV000186295
NM_000030.3(AGXT):c.326G>T (p.Gly109Val) SNV
Germline		 Chr2:240869330 Pathogenic Primary hyperoxaluria, type I No Assertion Criteria Provided
 CA275666 rs_180177199

1 SubmittersRCV000186296
NM_000030.3(AGXT):c.331C>T (p.Arg111Ter) SNV
Germline		 Chr2:240869335 Pathogenic Primary hyperoxaluria, type I
Condition: not provided
Primary hyperoxaluria		 Criteria Provided
Multiple Submitters
No Conflicts
 CA275668 rs_180177202

5 SubmittersRCV000186297RCV001384603RCV003330550
NM_000030.3(AGXT):c.332G>A (p.Arg111Gln) SNV
Germline		 Chr2:240869336 Likely pathogenic Primary hyperoxaluria, type I
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA275671 rs_180177203

6 SubmittersRCV000186298RCV002305454
NM_000030.3(AGXT):c.335C>A (p.Ala112Asp) SNV
Germline		 Chr2:240869339 Pathogenic/Likely pathogenic Primary hyperoxaluria, type I
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA275673 rs_796052061

3 SubmittersRCV000186299RCV003556222
NM_000030.3(AGXT):c.349G>T (p.Glu117Ter) SNV
Germline		 Chr2:240869353 Pathogenic Primary hyperoxaluria, type I No Assertion Criteria Provided
 CA275674 rs_180177208

1 SubmittersRCV000186300
NM_000030.3(AGXT):c.352C>T (p.Arg118Cys) SNV
Germline		 Chr2:240869356 Conflicting classifications of pathogenicity Primary hyperoxaluria, type I
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA275677 rs_376844297

4 SubmittersRCV000186301RCV000346525
NM_000030.3(AGXT):c.353G>A (p.Arg118His) SNV
Germline		 Chr2:240869357 Likely pathogenic Primary hyperoxaluria, type I Criteria Provided
Single Submitter
 CA275679 rs_138025751

2 SubmittersRCV000186302
NM_000030.3(AGXT):c.358+1G>T SNV
Germline		 Chr2:240869363 Pathogenic Primary hyperoxaluria, type I
Condition: not provided		 Criteria Provided
Single Submitter
 CA275791 rs_796052067

2 SubmittersRCV000186358RCV003688832
NM_000030.3(AGXT):c.358+2T>G SNV
Germline		 Chr2:240869364 Pathogenic Primary hyperoxaluria, type I
Condition: not provided		 Criteria Provided
Single Submitter
 CA275792 rs_113681235

2 SubmittersRCV000186359RCV001384604
NM_000030.3(AGXT):c.364C>T (p.Arg122Ter) SNV
Germline		 Chr2:240870649 Pathogenic Primary hyperoxaluria, type I
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA275681 rs_180177210

7 SubmittersRCV000186303RCV000818752
NM_000030.3(AGXT):c.371A>C (p.His124Pro) SNV
Germline		 Chr2:240870656 Pathogenic Primary hyperoxaluria, type I No Assertion Criteria Provided
 CA275684 rs_180177211

1 SubmittersRCV000186304
NM_000030.3(AGXT):c.409C>T (p.Gln137Ter) SNV
Germline		 Chr2:240870694 Pathogenic Primary hyperoxaluria, type I No Assertion Criteria Provided
 CA275686 rs_180177214

1 SubmittersRCV000186305
NM_000030.3(AGXT):c.423G>T (p.Glu141Asp) SNV
Germline		 Chr2:240870708 Pathogenic Primary hyperoxaluria, type I No Assertion Criteria Provided
 CA275689 rs_180177217

1 SubmittersRCV000186306
NM_000030.3(AGXT):c.424-2A>G SNV
Germline		 Chr2:240871347 Pathogenic Primary hyperoxaluria, type I No Assertion Criteria Provided
 CA275804 rs_180177219

1 SubmittersRCV000186371
NM_000030.3(AGXT):c.449T>C (p.Leu150Pro) SNV
Germline		 Chr2:240871374 Pathogenic Primary hyperoxaluria, type I No Assertion Criteria Provided
 CA275691 rs_180177222

1 SubmittersRCV000186307
NM_000030.3(AGXT):c.457T>G (p.Leu153Val) SNV
Germline		 Chr2:240871382 Pathogenic Primary hyperoxaluria, type I No Assertion Criteria Provided
 CA275693 rs_180177223

1 SubmittersRCV000186308
NM_000030.3(AGXT):c.473C>A (p.Ser158Ter) SNV
Germline		 Chr2:240871398 Pathogenic Primary hyperoxaluria, type I
Condition: not provided		 Criteria Provided
Single Submitter
 CA275695 rs_180177225

2 SubmittersRCV000186310RCV003556223
NM_000030.3(AGXT):c.473C>T (p.Ser158Leu) SNV
Germline		 Chr2:240871398 Pathogenic/Likely pathogenic Primary hyperoxaluria, type I
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA275694 rs_180177225

7 SubmittersRCV000186309RCV001233993
NM_000030.3(AGXT):c.481G>A (p.Gly161Ser) SNV
Germline		 Chr2:240871406 Pathogenic Primary hyperoxaluria, type I
Nephrolithiasis
Nephrocalcinosis
Condition: not provided
Primary hyperoxaluria		 Criteria Provided
Multiple Submitters
No Conflicts
 CA275698 rs_180177227

6 SubmittersRCV000186311RCV000662317RCV001069631RCV003226241
NM_000030.3(AGXT):c.481G>C (p.Gly161Arg) SNV
Germline		 Chr2:240871406 Pathogenic Primary hyperoxaluria, type I No Assertion Criteria Provided
 CA275700 rs_180177227

1 SubmittersRCV000186312
NM_000030.3(AGXT):c.489G>A (p.Leu163=) SNV
Germline		 Chr2:240871414 Conflicting classifications of pathogenicity Primary hyperoxaluria, type I
not specified
Primary hyperoxaluria
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA275577 rs_147601535

6 SubmittersRCV000186244RCV000251696RCV000357381RCV000974765
NM_000030.3(AGXT):c.497T>C (p.Leu166Pro) SNV
Germline		 Chr2:240871422 Pathogenic Primary hyperoxaluria, type I No Assertion Criteria Provided
 CA275701 rs_180177230

1 SubmittersRCV000186313
NM_000030.3(AGXT):c.518G>A (p.Cys173Tyr) SNV
Germline		 Chr2:240871443 Pathogenic Primary hyperoxaluria, type I No Assertion Criteria Provided
 CA275703 rs_180177231

1 SubmittersRCV000186314
NM_000030.3(AGXT):c.519C>A (p.Cys173Ter) SNV
Germline		 Chr2:240871444 Pathogenic Primary hyperoxaluria, type I
Primary hyperoxaluria		 Criteria Provided
Single Submitter
 CA275704 rs_180177232

2 SubmittersRCV000186315RCV001192775
NM_000030.3(AGXT):c.525-1G>A SNV
Germline		 Chr2:240872978 Pathogenic Primary hyperoxaluria, type I
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA275805 rs_180177234

3 SubmittersRCV000186372RCV001852427
NM_000030.3(AGXT):c.533G>A (p.Cys178Tyr) SNV
Germline		 Chr2:240872987 Pathogenic/Likely pathogenic Primary hyperoxaluria, type I
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA275707 rs_180177235

4 SubmittersRCV000186316RCV002513968
NM_000030.3(AGXT):c.547G>A (p.Asp183Asn) SNV
Germline		 Chr2:240873001 Likely pathogenic Primary hyperoxaluria, type I Criteria Provided
Single Submitter
 CA275709 rs_180177236

2 SubmittersRCV000186317
NM_000030.3(AGXT):c.583A>C (p.Met195Leu) SNV
Germline		 Chr2:240873037 Pathogenic Primary hyperoxaluria, type I No Assertion Criteria Provided
 CA275710 rs_180177243

1 SubmittersRCV000186318
NM_000030.3(AGXT):c.584T>G (p.Met195Arg) SNV
Germline		 Chr2:240873038 Pathogenic/Likely pathogenic Primary hyperoxaluria, type I
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA275712 rs_180177244

6 SubmittersRCV000186319RCV001036463
NM_000030.3(AGXT):c.595G>A (p.Gly199Ser) SNV
Germline		 Chr2:240873049 Pathogenic Primary hyperoxaluria, type I No Assertion Criteria Provided
 CA275713 rs_796052062

1 SubmittersRCV000186320
NM_000030.3(AGXT):c.596-2A>G SNV
Germline		 Chr2:240873976 Pathogenic Primary hyperoxaluria, type I Criteria Provided
Single Submitter
 CA275806 rs_180177245

2 SubmittersRCV000186373
NM_000030.3(AGXT):c.603C>A (p.Asp201Glu) SNV
Germline		 Chr2:240873985 Pathogenic Primary hyperoxaluria, type I
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA275715 rs_180177246

5 SubmittersRCV000186321RCV001222818
NM_000030.3(AGXT):c.605T>A (p.Ile202Asn) SNV
Germline		 Chr2:240873987 Pathogenic Primary hyperoxaluria, type I No Assertion Criteria Provided
 CA275716 rs_536352238

1 SubmittersRCV000186322
NM_000030.3(AGXT):c.612C>A (p.Tyr204Ter) SNV
Germline		 Chr2:240873994 Pathogenic Primary hyperoxaluria, type I No Assertion Criteria Provided
 CA275718 rs_180177247

1 SubmittersRCV000186323
NM_000030.3(AGXT):c.614C>A (p.Ser205Ter) SNV
Germline		 Chr2:240873996 Pathogenic Primary hyperoxaluria, type I No Assertion Criteria Provided
 CA275723 rs_180177248

1 SubmittersRCV000186325
NM_000030.3(AGXT):c.614C>T (p.Ser205Leu) SNV
Germline		 Chr2:240873996 Pathogenic Primary hyperoxaluria, type I
Condition: not provided
Primary hyperoxaluria		 Criteria Provided
Multiple Submitters
No Conflicts
 CA275721 rs_180177248

4 SubmittersRCV000186324RCV001857589RCV002307437
NM_000030.3(AGXT):c.628G>C (p.Ala210Pro) SNV
Germline		 Chr2:240874010 Pathogenic Primary hyperoxaluria, type I No Assertion Criteria Provided
 CA275726 rs_180177250

1 SubmittersRCV000186326
NM_000030.3(AGXT):c.646G>A (p.Gly216Arg) SNV
Germline		 Chr2:240874028 Pathogenic/Likely pathogenic Primary hyperoxaluria, type I
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA275728 rs_180177252

3 SubmittersRCV000186327RCV003556224
NM_000030.3(AGXT):c.661T>C (p.Ser221Pro) SNV
Germline		 Chr2:240874043 Pathogenic Primary hyperoxaluria, type I No Assertion Criteria Provided
 CA275730 rs_180177254

1 SubmittersRCV000186328
NM_000030.3(AGXT):c.680+1G>A SNV
Germline		 Chr2:240874063 Pathogenic/Likely pathogenic Primary hyperoxaluria, type I
Condition: not provided
Primary hyperoxaluria		 Criteria Provided
Multiple Submitters
No Conflicts
 CA275794 rs_111996685

3 SubmittersRCV000186361RCV003556226RCV003330551
NM_000030.3(AGXT):c.680+1G>C SNV
Germline		 Chr2:240874063 Pathogenic Primary hyperoxaluria, type I No Assertion Criteria Provided
 CA275793 rs_111996685

1 SubmittersRCV000186360
NM_000030.3(AGXT):c.680+2T>A SNV
Germline		 Chr2:240874064 Pathogenic Primary hyperoxaluria, type I No Assertion Criteria Provided
 CA275795 rs_111742810

1 SubmittersRCV000186362
NM_000030.3(AGXT):c.680+5G>C SNV
Germline		 Chr2:240874067 Pathogenic Primary hyperoxaluria, type I No Assertion Criteria Provided
 CA275796 rs_180177256

1 SubmittersRCV000186363
NM_000030.3(AGXT):c.698G>T (p.Arg233Leu) SNV
Germline		 Chr2:240875126 Likely pathogenic Primary hyperoxaluria, type I
Condition: not provided		 Criteria Provided
Single Submitter
 CA275732 rs_121908527

2 SubmittersRCV000186329RCV001857590
NM_000030.3(AGXT):c.727G>C (p.Asp243His) SNV
Germline		 Chr2:240875155 Pathogenic Primary hyperoxaluria, type I No Assertion Criteria Provided
 CA275733 rs_180177258

1 SubmittersRCV000186330
NM_000030.3(AGXT):c.742G>T (p.Ala248Ser) SNV
Germline		 Chr2:240875170 Conflicting classifications of pathogenicity Primary hyperoxaluria, type I
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA275588 rs_180177260

3 SubmittersRCV000186253RCV002517831
NM_000030.3(AGXT):c.753G>A (p.Trp251Ter) SNV
Germline		 Chr2:240875181 Pathogenic Primary hyperoxaluria, type I No Assertion Criteria Provided
 CA275734 rs_180177263

1 SubmittersRCV000186331
NM_000030.3(AGXT):c.757T>C (p.Cys253Arg) SNV
Germline		 Chr2:240875185 Pathogenic/Likely pathogenic Primary hyperoxaluria, type I
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA275736 rs_180177264

3 SubmittersRCV000186332RCV001236934
NM_000030.3(AGXT):c.776+1G>A SNV
Germline		 Chr2:240875205 Pathogenic Primary hyperoxaluria, type I
Condition: not provided		 Criteria Provided
Single Submitter
 CA275797 rs_180177265

2 SubmittersRCV000186364RCV002513969
NM_000030.3(AGXT):c.776+1G>C SNV
Germline		 Chr2:240875205 Pathogenic Primary hyperoxaluria, type I
Condition: not provided		 Criteria Provided
Single Submitter
 CA275798 rs_180177265

2 SubmittersRCV000186365RCV003556227
NM_000030.3(AGXT):c.777-2A>G SNV
Germline		 Chr2:240875933 Likely pathogenic Primary hyperoxaluria, type I
Condition: not provided		 Criteria Provided
Single Submitter
 CA275807 rs_796052068

2 SubmittersRCV000186374RCV002223813
NM_000030.3(AGXT):c.783T>A (p.His261Gln) SNV
Germline		 Chr2:240875941 Pathogenic Primary hyperoxaluria, type I No Assertion Criteria Provided
 CA275737 rs_180177269

1 SubmittersRCV000186333
NM_000030.3(AGXT):c.806T>C (p.Leu269Pro) SNV
Germline		 Chr2:240875964 Conflicting classifications of pathogenicity Primary hyperoxaluria, type I
Condition: not provided
not specified		 Criteria Provided
Conflicting Classifications
 CA275739 rs_180177271

3 SubmittersRCV000186334RCV001852425RCV002282021
NM_000030.3(AGXT):c.822G>C (p.Glu274Asp) SNV
Germline		 Chr2:240875980 Conflicting classifications of pathogenicity Primary hyperoxaluria, type I
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA275741 rs_146525143

6 SubmittersRCV000186335RCV001852426
NM_000030.3(AGXT):c.823A>C (p.Ser275Arg) SNV
Germline		 Chr2:240875981 Likely pathogenic Primary hyperoxaluria, type I
Cardiac arrhythmia
Primary hyperoxaluria		 Criteria Provided
Single Submitter
 CA275743 rs_180177272

2 SubmittersRCV000186336RCV004539733RCV004525892
NM_000030.3(AGXT):c.844C>T (p.Gln282Ter) SNV
Germline		 Chr2:240876002 Pathogenic Primary hyperoxaluria, type I No Assertion Criteria Provided
 CA275745 rs_180177279

1 SubmittersRCV000186337
NM_000030.3(AGXT):c.846G>C (p.Gln282His) SNV
Germline		 Chr2:240876004 Pathogenic Primary hyperoxaluria, type I No Assertion Criteria Provided
 CA275748 rs_180177284

1 SubmittersRCV000186338
NM_000030.3(AGXT):c.846+1G>A SNV
Germline		 Chr2:240876005 Pathogenic Primary hyperoxaluria, type I Criteria Provided
Single Submitter
 CA275800 rs_180177281

2 SubmittersRCV000186367
NM_000030.3(AGXT):c.846+1G>T SNV
Germline		 Chr2:240876005 Pathogenic Primary hyperoxaluria, type I
Condition: not provided
Primary hyperoxaluria		 Criteria Provided
Multiple Submitters
No Conflicts
 CA275799 rs_180177281

5 SubmittersRCV000186366RCV000806714RCV002307438
NM_000030.3(AGXT):c.847-3C>G SNV
Germline		 Chr2:240877534 Pathogenic/Likely pathogenic Primary hyperoxaluria, type I
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA275809 rs_180177286

9 SubmittersRCV000186376RCV000803735
NM_000030.3(AGXT):c.847-1G>C SNV
Germline		 Chr2:240877536 Pathogenic/Likely pathogenic Primary hyperoxaluria, type I
Primary hyperoxaluria		 Criteria Provided
Multiple Submitters
No Conflicts
 CA275808 rs_180177285

4 SubmittersRCV000186375RCV001269136
NM_000030.3(AGXT):c.851T>C (p.Leu284Pro) SNV
Germline		 Chr2:240877541 Pathogenic Primary hyperoxaluria, type I No Assertion Criteria Provided
 CA275750 rs_180177287

1 SubmittersRCV000186339
NM_000030.3(AGXT):c.853G>T (p.Glu285Ter) SNV
Germline		 Chr2:240877543 Pathogenic Primary hyperoxaluria, type I No Assertion Criteria Provided
 CA275752 rs_180177288

1 SubmittersRCV000186340
NM_000030.3(AGXT):c.883G>A (p.Ala295Thr) SNV
Germline		 Chr2:240877573 Conflicting classifications of pathogenicity Primary hyperoxaluria, type I
Condition: not provided
not specified		 Criteria Provided
Conflicting Classifications
 CA275599 rs_13408961

9 SubmittersRCV000186262RCV000428366RCV001844077
NM_000030.3(AGXT):c.891T>G (p.Tyr297Ter) SNV
Germline		 Chr2:240877581 Likely pathogenic Primary hyperoxaluria, type I Criteria Provided
Single Submitter
 CA275755 rs_180177292

2 SubmittersRCV000186342
NM_000030.3(AGXT):c.893T>C (p.Leu298Pro) SNV
Germline		 Chr2:240877583 Pathogenic Primary hyperoxaluria, type I No Assertion Criteria Provided
 CA275758 rs_180177293

1 SubmittersRCV000186343
NM_000030.3(AGXT):c.907C>T (p.Gln303Ter) SNV
Germline		 Chr2:240877597 Pathogenic/Likely pathogenic Primary hyperoxaluria, type I
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA275759 rs_180177294

3 SubmittersRCV000186344RCV002516974
NM_000030.3(AGXT):c.922C>T (p.Gln308Ter) SNV
Germline		 Chr2:240877612 Pathogenic Primary hyperoxaluria, type I No Assertion Criteria Provided
 CA275762 rs_180177296

1 SubmittersRCV000186345
NM_000030.3(AGXT):c.942+1G>T SNV
Germline		 Chr2:240877633 Pathogenic/Likely pathogenic Primary hyperoxaluria, type I
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA275801 rs_180177297

3 SubmittersRCV000186368RCV001857593
NM_000030.3(AGXT):c.943-1G>A SNV
Germline		 Chr2:240878021 Pathogenic Primary hyperoxaluria, type I No Assertion Criteria Provided
 CA275811 rs_180177298

1 SubmittersRCV000186378
NM_000030.3(AGXT):c.943-1G>T SNV
Germline		 Chr2:240878021 Pathogenic/Likely pathogenic Primary hyperoxaluria, type I
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA275810 rs_180177298

4 SubmittersRCV000186377RCV003556228
NM_000030.3(AGXT):c.947T>C (p.Leu316Pro) SNV
Germline		 Chr2:240878026 Pathogenic Primary hyperoxaluria, type I No Assertion Criteria Provided
 CA275765 rs_796052063

1 SubmittersRCV000186346
NM_000030.3(AGXT):c.956C>T (p.Pro319Leu) SNV
Germline		 Chr2:240878035 Pathogenic Primary hyperoxaluria, type I No Assertion Criteria Provided
 CA275767 rs_180177299

1 SubmittersRCV000186347
NM_000030.3(AGXT):c.996G>A (p.Trp332Ter) SNV
Germline		 Chr2:240878075 Pathogenic/Likely pathogenic Primary hyperoxaluria, type I
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA275769 rs_796052064

3 SubmittersRCV000186348RCV001857591
NM_000030.3(AGXT):c.997A>T (p.Arg333Ter) SNV
Germline		 Chr2:240878076 Pathogenic Primary hyperoxaluria, type I
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA275772 rs_180177303

4 SubmittersRCV000186349RCV001382062
NM_000030.3(AGXT):c.1007T>A (p.Val336Asp) SNV
Germline		 Chr2:240878086 Pathogenic/Likely pathogenic Primary hyperoxaluria, type I
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA275775 rs_180177155

4 SubmittersRCV000186350RCV003556225
NM_000030.3(AGXT):c.1014C>G (p.Tyr338Ter) SNV
Germline		 Chr2:240878093 Pathogenic Primary hyperoxaluria, type I No Assertion Criteria Provided
 CA275776 rs_756437332

1 SubmittersRCV000186351
NM_000030.3(AGXT):c.1045G>A (p.Gly349Ser) SNV
Germline		 Chr2:240878124 Pathogenic Primary hyperoxaluria, type I No Assertion Criteria Provided
 CA275779 rs_796052065

1 SubmittersRCV000186352
NM_000030.3(AGXT):c.1071+1G>A SNV
Germline		 Chr2:240878151 Pathogenic Primary hyperoxaluria, type I No Assertion Criteria Provided
 CA275802 rs_180177158

1 SubmittersRCV000186369
NM_000030.3(AGXT):c.1076T>C (p.Leu359Pro) SNV
Germline		 Chr2:240878718 Likely pathogenic Primary hyperoxaluria, type I Criteria Provided
Single Submitter
 CA275781 rs_180177160

2 SubmittersRCV000186353
NM_000030.3(AGXT):c.1079G>A (p.Arg360Gln) SNV
Germline		 Chr2:240878721 Pathogenic/Likely pathogenic Primary hyperoxaluria, type I
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA275783 rs_180177161

5 SubmittersRCV000186354RCV001857592
NM_000030.3(AGXT):c.1102G>A (p.Ala368Thr) SNV
Germline		 Chr2:240878744 Pathogenic Primary hyperoxaluria, type I No Assertion Criteria Provided
 CA275785 rs_180177163

1 SubmittersRCV000186355
NM_000030.3(AGXT):c.1142G>A (p.Arg381Lys) SNV
Germline		 Chr2:240878784 Conflicting classifications of pathogenicity Primary hyperoxaluria, type I
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA275605 rs_151185188

4 SubmittersRCV000186266RCV001753585
NM_000030.3(AGXT):c.1148C>A (p.Ala383Asp) SNV
Germline		 Chr2:240878790 Pathogenic Primary hyperoxaluria, type I No Assertion Criteria Provided
 CA275787 rs_796052066

1 SubmittersRCV000186356
NM_000030.3(AGXT):c.1151T>C (p.Leu384Pro) SNV
Germline		 Chr2:240878793 Conflicting classifications of pathogenicity Primary hyperoxaluria, type I
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA275789 rs_180177165

3 SubmittersRCV000186357RCV002516975
NM_012203.2(GRHPR):c.84-2A>G SNV
Germline		 Chr9:37424843 Pathogenic Primary hyperoxaluria, type II
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA275903 rs_180177319

4 SubmittersRCV000186448RCV001857597
NM_012203.2(GRHPR):c.102G>A (p.Trp34Ter) SNV
Germline		 Chr9:37424863 Pathogenic/Likely pathogenic Primary hyperoxaluria, type II
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA275883 rs_180177304

4 SubmittersRCV000186438RCV001390116
NM_012203.2(GRHPR):c.203T>C (p.Leu68Pro) SNV
Germline		 Chr9:37424964 Pathogenic Primary hyperoxaluria, type II No Assertion Criteria Provided
 CA275885 rs_180177305

1 SubmittersRCV000186439
NM_012203.2(GRHPR):c.287G>T (p.Arg96Leu) SNV
Germline		 Chr9:37425994 Pathogenic Primary hyperoxaluria, type II No Assertion Criteria Provided
 CA275887 rs_796052078

1 SubmittersRCV000186440
NM_012203.2(GRHPR):c.478G>A (p.Gly160Arg) SNV
Germline		 Chr9:37428557 Likely pathogenic Primary hyperoxaluria, type II Criteria Provided
Single Submitter
 CA275889 rs_180177312

2 SubmittersRCV000186441
NM_012203.2(GRHPR):c.493+2T>A SNV
Germline		 Chr9:37428574 Pathogenic/Likely pathogenic Primary hyperoxaluria, type II
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA275905 rs_180177313

4 SubmittersRCV000186450RCV001238281
NM_012203.2(GRHPR):c.494G>A (p.Gly165Asp) SNV
Germline		 Chr9:37429732 Pathogenic Primary hyperoxaluria, type II
Primary hyperoxaluria
Condition: not provided
GRHPR-related disorder		 Criteria Provided
Multiple Submitters
No Conflicts
 CA275891 rs_180177314

10 SubmittersRCV000186442RCV000585941RCV000802868RCV003927729
NM_012203.2(GRHPR):c.735-1G>A SNV
Germline		 Chr9:37432007 Pathogenic/Likely pathogenic Primary hyperoxaluria, type II
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA275906 rs_180177317

8 SubmittersRCV000186451RCV000806551
NM_012203.2(GRHPR):c.905G>A (p.Arg302His) SNV
Germline		 Chr9:37436700 Conflicting classifications of pathogenicity Primary hyperoxaluria, type II
not specified		 Criteria Provided
Conflicting Classifications
 CA275895 rs_180177323

3 SubmittersRCV000186444RCV004525893
NM_012203.2(GRHPR):c.934A>G (p.Asn312Asp) SNV
Germline		 Chr9:37436729 Likely pathogenic Primary hyperoxaluria, type II Criteria Provided
Single Submitter
 CA275897 rs_180177324

2 SubmittersRCV000186445
NM_012203.2(GRHPR):c.965T>C (p.Met322Thr) SNV
Germline		 Chr9:37436760 Pathogenic Primary hyperoxaluria, type II No Assertion Criteria Provided
 CA275901 rs_180177325

1 SubmittersRCV000186447
NM_012203.2(GRHPR):c.965T>G (p.Met322Arg) SNV
Germline		 Chr9:37436760 Likely pathogenic Primary hyperoxaluria, type II
Condition: not provided		 Criteria Provided
Single Submitter
 CA275899 rs_180177325

2 SubmittersRCV000186446RCV002517834
NM_000030.3(AGXT):c.1111G>A (p.Glu371Lys) SNV
Germline		 Chr2:240878753 Conflicting classifications of pathogenicity Condition: not provided
Primary hyperoxaluria, type I		 Criteria Provided
Conflicting Classifications
 CA2209424 rs_369664123

4 SubmittersRCV000341567RCV001140245
NM_000030.3(AGXT):c.601G>A (p.Asp201Asn) SNV
Germline		 Chr2:240873983 Conflicting classifications of pathogenicity Primary hyperoxaluria, type I
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA10612912 rs_886055840

4 SubmittersRCV000268109RCV002519959
NM_000030.3(AGXT):c.930C>T (p.Phe310=) SNV
Germline		 Chr2:240877620 Conflicting classifications of pathogenicity Primary hyperoxaluria, type I
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA10612922 rs_886055842

2 SubmittersRCV000294212RCV001414441
NM_000030.3(AGXT):c.942+14T>G SNV
Germline		 Chr2:240877646 Conflicting classifications of pathogenicity Primary hyperoxaluria, type I Criteria Provided
Conflicting Classifications
 CA10613327 rs_886055843

2 SubmittersRCV000670177
NM_000030.3(AGXT):c.1071+12C>T SNV
Germline		 Chr2:240878162 Conflicting classifications of pathogenicity Primary hyperoxaluria, type I
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA2209396 rs_375775541

2 SubmittersRCV000295493RCV001409494
NM_000030.3(AGXT):c.1071+13G>A SNV
Germline		 Chr2:240878163 Conflicting classifications of pathogenicity Primary hyperoxaluria, type I
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA2209397 rs_758413374

2 SubmittersRCV000335602RCV003736729
NM_000030.3(AGXT):c.165+12G>C SNV
Germline		 Chr2:240869042 Conflicting classifications of pathogenicity Primary hyperoxaluria, type I
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA2208992 rs_201989825

2 SubmittersRCV000292295RCV003718211
NM_012203.2(GRHPR):c.468C>T (p.Val156=) SNV
Germline		 Chr9:37428547 Conflicting classifications of pathogenicity Primary hyperoxaluria, type II
Condition: not provided
Nephrolithiasis/nephrocalcinosis		 Criteria Provided
Conflicting Classifications
 CA5059061 rs_142509393

5 SubmittersRCV000405730RCV000885870RCV002338963
NM_012203.2(GRHPR):c.801A>C (p.Gly267=) SNV
Germline		 Chr9:37432074 Conflicting classifications of pathogenicity Primary hyperoxaluria, type II
Nephrolithiasis/nephrocalcinosis
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA5059268 rs_141800325

4 SubmittersRCV000306847RCV002418225RCV000967757
NM_012203.2(GRHPR):c.286C>T (p.Arg96Cys) SNV
Germline		 Chr9:37425993 Conflicting classifications of pathogenicity Primary hyperoxaluria, type II
Condition: not provided
GRHPR-related disorder		 Criteria Provided
Conflicting Classifications
 CA5058973 rs_78920863

6 SubmittersRCV000319185RCV000896260RCV003950302
NM_012203.2(GRHPR):c.336C>T (p.Ala112=) SNV
Germline		 Chr9:37426586 Conflicting classifications of pathogenicity Primary hyperoxaluria, type II
Condition: not provided
Nephrolithiasis/nephrocalcinosis		 Criteria Provided
Conflicting Classifications
 CA5059006 rs_148778319

4 SubmittersRCV000334444RCV000911021RCV004022118
NM_012203.2(GRHPR):c.682A>G (p.Lys228Glu) SNV
Germline		 Chr9:37430594 Conflicting classifications of pathogenicity Primary hyperoxaluria, type II
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA5059175 rs_74692381

2 SubmittersRCV000365182RCV002058803
NM_012203.2(GRHPR):c.214+2T>G SNV
Unknown		 Chr9:37424977 Likely pathogenic Primary hyperoxaluria, type II Criteria Provided
Multiple Submitters
No Conflicts
 CA16041324 rs_1057517398

2 SubmittersRCV000410412
NM_012203.2(GRHPR):c.337G>T (p.Glu113Ter) SNV
Germline		 Chr9:37426587 Pathogenic/Likely pathogenic Primary hyperoxaluria, type II
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA16041326 rs_180177307

3 SubmittersRCV000412226RCV002523876
NM_000030.3(AGXT):c.743C>T (p.Ala248Val) SNV
Germline		 Chr2:240875171 Conflicting classifications of pathogenicity Condition: not provided
Primary hyperoxaluria, type I
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 CA2209225 rs_372482918

5 SubmittersRCV000436183RCV001276582RCV003243122
NM_012203.2(GRHPR):c.955G>T (p.Gly319Trp) SNV
Germline		 Chr9:37436750 Conflicting classifications of pathogenicity Condition: not provided
Primary hyperoxaluria, type II		 Criteria Provided
Conflicting Classifications
 CA5059348 rs_142835989

3 SubmittersRCV000490104RCV001167414
NM_012203.2(GRHPR):c.404+5G>A SNV
Germline		 Chr9:37426659 Pathogenic/Likely pathogenic Nephrocalcinosis
Nephrolithiasis
Condition: not provided
Primary hyperoxaluria, type II		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_757796926

5 SubmittersRCV000662322RCV001223285RCV001835065
NM_000030.3(AGXT):c.524+2T>A SNV
Unknown		 Chr2:240871451 Likely pathogenic Primary hyperoxaluria, type I Criteria Provided
Multiple Submitters
No Conflicts
 rs_1553648568

2 SubmittersRCV000666434
NM_000030.3(AGXT):c.781C>G (p.His261Asp) SNV
Germline		 Chr2:240875939 Likely pathogenic Primary hyperoxaluria, type I
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_778567956

3 SubmittersRCV000671808RCV002532115
NM_000030.3(AGXT):c.145A>C (p.Met49Leu) SNV
Germline		 Chr2:240869010 Conflicting classifications of pathogenicity Primary hyperoxaluria, type I
Condition: not provided
not specified		 Criteria Provided
Conflicting Classifications
 rs_74205173

6 SubmittersRCV000665056RCV000885301RCV001584529
NM_000030.3(AGXT):c.681-1G>T SNV
Unknown		 Chr2:240875108 Likely pathogenic Primary hyperoxaluria, type I Criteria Provided
Single Submitter
 rs_112673831

1 SubmittersRCV000666318
NM_000030.3(AGXT):c.466G>C (p.Gly156Arg) SNV
Germline		 Chr2:240871391 Pathogenic Primary hyperoxaluria, type I
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_121908530

2 SubmittersRCV000668336RCV002530741
NM_000030.3(AGXT):c.423G>C (p.Glu141Asp) SNV
Germline		 Chr2:240870708 Conflicting classifications of pathogenicity Primary hyperoxaluria, type I Criteria Provided
Conflicting Classifications
 rs_180177217

2 SubmittersRCV000668762
NM_000030.3(AGXT):c.423+1G>A SNV
Unknown		 Chr2:240870709 Pathogenic/Likely pathogenic Primary hyperoxaluria, type I Criteria Provided
Multiple Submitters
No Conflicts
 rs_1553648493

2 SubmittersRCV000674812
NM_000030.3(AGXT):c.776+2T>G SNV
Unknown		 Chr2:240875206 Likely pathogenic Primary hyperoxaluria, type I Criteria Provided
Single Submitter
 rs_1553649007

1 SubmittersRCV000665763
NM_012203.2(GRHPR):c.1A>T (p.Met1Leu) SNV
Unknown		 Chr9:37422751 Likely pathogenic Primary hyperoxaluria, type II Criteria Provided
Single Submitter
 rs_1554746094

1 SubmittersRCV000673070
NM_012203.2(GRHPR):c.214+1G>T SNV
Germline		 Chr9:37424976 Likely pathogenic Primary hyperoxaluria, type II
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_1244822375

2 SubmittersRCV000666372RCV002530681
NM_012203.2(GRHPR):c.2T>G (p.Met1Arg) SNV
Unknown		 Chr9:37422752 Likely pathogenic Primary hyperoxaluria, type II Criteria Provided
Single Submitter
 rs_1554746097

1 SubmittersRCV000666459
NM_012203.2(GRHPR):c.599-1G>C SNV
Unknown		 Chr9:37430510 Likely pathogenic Primary hyperoxaluria, type II Criteria Provided
Multiple Submitters
No Conflicts
 rs_1422977131

2 SubmittersRCV000671056
NM_012203.2(GRHPR):c.889G>A (p.Ala297Thr) SNV
Germline		 Chr9:37436684 Conflicting classifications of pathogenicity Primary hyperoxaluria, type II Criteria Provided
Conflicting Classifications
 rs_200632069

2 SubmittersRCV000666135
NM_012203.2(GRHPR):c.958G>T (p.Glu320Ter) SNV
Germline		 Chr9:37436753 Conflicting classifications of pathogenicity Primary hyperoxaluria, type II
Condition: not provided		 Criteria Provided
Conflicting Classifications
 rs_1331106064

3 SubmittersRCV000673330RCV002531337
NM_012203.2(GRHPR):c.1A>G (p.Met1Val) SNV
Germline		 Chr9:37422751 Pathogenic/Likely pathogenic Primary hyperoxaluria, type II Criteria Provided
Multiple Submitters
No Conflicts
 rs_1554746094

2 SubmittersRCV000669576
NM_012203.2(GRHPR):c.214+1G>C SNV
Unknown		 Chr9:37424976 Likely pathogenic Primary hyperoxaluria, type II Criteria Provided
Single Submitter
 rs_1244822375

1 SubmittersRCV000667472
NM_012203.2(GRHPR):c.405-1G>A SNV
Unknown		 Chr9:37428483 Likely pathogenic Primary hyperoxaluria, type II Criteria Provided
Single Submitter
 rs_779208888

1 SubmittersRCV000669610
NM_012203.2(GRHPR):c.598+1G>T SNV
Germline		 Chr9:37429837 Likely pathogenic Primary hyperoxaluria, type II
Condition: not provided		 Criteria Provided
Single Submitter
 rs_111256477

2 SubmittersRCV000664698RCV000723226
NM_012203.2(GRHPR):c.866-2A>G SNV
Germline		 Chr9:37436659 Conflicting classifications of pathogenicity Primary hyperoxaluria, type II Criteria Provided
Conflicting Classifications
 rs_200316691

2 SubmittersRCV000668309
NM_012203.2(GRHPR):c.287+2T>C SNV
Germline		 Chr9:37425996 Likely pathogenic Condition: not provided
Primary hyperoxaluria, type II		 Criteria Provided
Single Submitter
 rs_1564297234

2 SubmittersRCV000722683RCV003447157
NM_000030.3(AGXT):c.949C>T (p.Arg317Trp) SNV
Germline		 Chr2:240878028 Conflicting classifications of pathogenicity Primary hyperoxaluria, type I
Condition: not provided		 Criteria Provided
Conflicting Classifications
 rs_774030578

4 SubmittersRCV000778603RCV001759471
NM_012203.2(GRHPR):c.139C>T (p.Arg47Ter) SNV
Germline		 Chr9:37424900 Pathogenic/Likely pathogenic Primary hyperoxaluria, type II
Condition: not provided
GRHPR-related disorder		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_774654020

5 SubmittersRCV000779582RCV001042856RCV003392593
NM_000030.3(AGXT):c.1084G>A (p.Gly362Ser) SNV
Germline		 Chr2:240878726 Conflicting classifications of pathogenicity Primary hyperoxaluria
Condition: not provided
Primary hyperoxaluria, type I		 Criteria Provided
Conflicting Classifications
 rs_569643246

3 SubmittersRCV000780822RCV001869156RCV003461055
NM_012203.2(GRHPR):c.734+1G>A SNV
Germline		 Chr9:37430647 Pathogenic/Likely pathogenic Condition: not provided
Primary hyperoxaluria, type II		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_148049120

6 SubmittersRCV000805272RCV001784426
NM_000030.3(AGXT):c.1023C>A (p.Asp341Glu) SNV
Germline		 Chr2:240878102 Conflicting classifications of pathogenicity Condition: not provided
Primary hyperoxaluria, type I
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 rs_144007007

4 SubmittersRCV000883323RCV001271651RCV004028324
NM_000030.3(AGXT):c.567C>T (p.Gly189=) SNV
Germline		 Chr2:240873021 Conflicting classifications of pathogenicity Condition: not provided
Primary hyperoxaluria, type I
AGXT-related disorder		 Criteria Provided
Conflicting Classifications
 rs_373612587

4 SubmittersRCV000899433RCV001143776RCV003968225
NM_000030.3(AGXT):c.537G>C (p.Leu179=) SNV
Germline		 Chr2:240872991 Conflicting classifications of pathogenicity Condition: not provided
Primary hyperoxaluria, type I		 Criteria Provided
Conflicting Classifications
 rs_565927450

3 SubmittersRCV000927058RCV001143775
NM_000030.3(AGXT):c.885G>A (p.Ala295=) SNV
Germline		 Chr2:240877575 Conflicting classifications of pathogenicity Condition: not provided
Primary hyperoxaluria, type I		 Criteria Provided
Conflicting Classifications
 rs_377132245

3 SubmittersRCV000927649RCV001139467
NM_012203.2(GRHPR):c.666C>G (p.Thr222=) SNV
Germline		 Chr9:37430578 Conflicting classifications of pathogenicity Condition: not provided
Primary hyperoxaluria, type II
Nephrolithiasis/nephrocalcinosis		 Criteria Provided
Conflicting Classifications
 rs_146227450

4 SubmittersRCV000913271RCV001165837RCV002363365
NM_012203.2(GRHPR):c.255C>T (p.Ile85=) SNV
Germline		 Chr9:37425962 Conflicting classifications of pathogenicity Condition: not provided
Primary hyperoxaluria, type II
Nephrolithiasis/nephrocalcinosis		 Criteria Provided
Conflicting Classifications
 rs_372985143

3 SubmittersRCV000942675RCV001167946RCV004029729
NM_012203.2(GRHPR):c.666C>T (p.Thr222=) SNV
Germline		 Chr9:37430578 Conflicting classifications of pathogenicity Condition: not provided
Primary hyperoxaluria, type II		 Criteria Provided
Conflicting Classifications
 rs_146227450

3 SubmittersRCV000941275RCV001165838
NM_012203.2(GRHPR):c.84-4G>A SNV
Germline		 Chr9:37424841 Conflicting classifications of pathogenicity Condition: not provided
Primary hyperoxaluria, type II
Nephrolithiasis/nephrocalcinosis		 Criteria Provided
Conflicting Classifications
 rs_778578725

3 SubmittersRCV000982380RCV001274436RCV004030067
NM_012203.2(GRHPR):c.83+1G>C SNV
Germline		 Chr9:37422834 Likely pathogenic Condition: not provided
Primary hyperoxaluria, type II		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_1822898131

2 SubmittersRCV001044981RCV003467737
NM_000030.3(AGXT):c.40C>T (p.Leu14=) SNV
Germline		 Chr2:240868905 Conflicting classifications of pathogenicity Primary hyperoxaluria, type I
Condition: not provided		 Criteria Provided
Conflicting Classifications
 rs_2058975287

2 SubmittersRCV001139350RCV002070655
NM_000030.3(AGXT):c.214A>C (p.Asn72His) SNV
Germline		 Chr2:240869218 Conflicting classifications of pathogenicity Primary hyperoxaluria, type I
Condition: not provided		 Criteria Provided
Conflicting Classifications
 rs_754637713

2 SubmittersRCV001141970RCV001858930
NM_000030.3(AGXT):c.510G>A (p.Gly170=) SNV
Germline		 Chr2:240871435 Conflicting classifications of pathogenicity Primary hyperoxaluria, type I
Condition: not provided		 Criteria Provided
Conflicting Classifications
 rs_965707125

2 SubmittersRCV001143773RCV002557063
NM_000030.3(AGXT):c.1065G>C (p.Thr355=) SNV
Germline		 Chr2:240878144 Conflicting classifications of pathogenicity Primary hyperoxaluria, type I
Condition: not provided		 Criteria Provided
Conflicting Classifications
 rs_143488099

2 SubmittersRCV001140244RCV001423074
NM_012203.2(GRHPR):c.543G>C (p.Leu181=) SNV
Germline		 Chr9:37429781 Conflicting classifications of pathogenicity Primary hyperoxaluria, type II
Condition: not provided		 Criteria Provided
Conflicting Classifications
 rs_370395134

3 SubmittersRCV001169810RCV001459259
NM_012203.2(GRHPR):c.690C>A (p.Phe230Leu) SNV
Germline		 Chr9:37430602 Conflicting classifications of pathogenicity Primary hyperoxaluria, type II
Condition: not provided
Nephrolithiasis/nephrocalcinosis		 Criteria Provided
Conflicting Classifications
 rs_185747820

4 SubmittersRCV001167411RCV001355504RCV002365817
NM_000030.3(AGXT):c.358G>A (p.Gly120Arg) SNV
Germline		 Chr2:240869362 Conflicting classifications of pathogenicity Condition: not provided
Primary hyperoxaluria, type I		 Criteria Provided
Conflicting Classifications
 rs_747043550

3 SubmittersRCV001235424RCV002484288
NM_012203.2(GRHPR):c.391G>A (p.Glu131Lys) SNV
Germline		 Chr9:37426641 Conflicting classifications of pathogenicity Condition: not provided
Primary hyperoxaluria, type II		 Criteria Provided
Conflicting Classifications
 rs_369339903

3 SubmittersRCV001243580RCV001279920
NM_012203.2(GRHPR):c.742G>A (p.Val248Ile) SNV
Germline		 Chr9:37432015 Conflicting classifications of pathogenicity Condition: not provided
Primary hyperoxaluria, type II		 Criteria Provided
Conflicting Classifications
 rs_369950120

4 SubmittersRCV001244319RCV001829926
NM_000030.3(AGXT):c.534C>G (p.Cys178Trp) SNV
Germline		 Chr2:240872988 Likely pathogenic Primary hyperoxaluria, type I Criteria Provided
Single Submitter
 rs_1400552764

1 SubmittersRCV001280544
NM_000030.3(AGXT):c.198C>A (p.Tyr66Ter) SNV
Germline		 Chr2:240869202 Pathogenic/Likely pathogenic Primary hyperoxaluria, type I Criteria Provided
Multiple Submitters
No Conflicts
 rs_121908521

3 SubmittersRCV001263729
NM_000030.3(AGXT):c.252T>A (p.Cys84Ter) SNV
Unknown		 Chr2:240869256 Likely pathogenic Primary hyperoxaluria, type I Criteria Provided
Single Submitter
 rs_2058978388

1 SubmittersRCV001263730
NM_000030.3(AGXT):c.358G>T (p.Gly120Ter) SNV
Unknown		 Chr2:240869362 Likely pathogenic Primary hyperoxaluria, type I Criteria Provided
Single Submitter
 rs_747043550

1 SubmittersRCV001263731
NM_000030.3(AGXT):c.412G>T (p.Glu138Ter) SNV
Unknown		 Chr2:240870697 Likely pathogenic Primary hyperoxaluria, type I Criteria Provided
Single Submitter
 rs_2058986411

1 SubmittersRCV001263732
NM_000030.3(AGXT):c.439A>T (p.Lys147Ter) SNV
Unknown		 Chr2:240871364 Likely pathogenic Primary hyperoxaluria, type I Criteria Provided
Single Submitter
 rs_1193344118

1 SubmittersRCV001263733
NM_000030.3(AGXT):c.653C>A (p.Ser218Ter) SNV
Unknown		 Chr2:240874035 Likely pathogenic Primary hyperoxaluria, type I Criteria Provided
Single Submitter
 rs_180177253

1 SubmittersRCV001263734
NM_012203.2(GRHPR):c.136G>T (p.Glu46Ter) SNV
Unknown		 Chr9:37424897 Likely pathogenic Primary hyperoxaluria, type II Criteria Provided
Single Submitter
 rs_202022170

1 SubmittersRCV001264362
NM_012203.2(GRHPR):c.306C>A (p.Tyr102Ter) SNV
Unknown		 Chr9:37426556 Likely pathogenic Primary hyperoxaluria, type II Criteria Provided
Single Submitter
 rs_1823086297

1 SubmittersRCV001264363
NM_012203.2(GRHPR):c.457C>T (p.Gln153Ter) SNV
Unknown		 Chr9:37428536 Likely pathogenic Primary hyperoxaluria, type II Criteria Provided
Single Submitter
 rs_1341484544

1 SubmittersRCV001264364
NM_012203.2(GRHPR):c.34A>G (p.Thr12Ala) SNV
Germline		 Chr9:37422784 Conflicting classifications of pathogenicity Primary hyperoxaluria, type II
Condition: not provided		 No Assertion Criteria Provided
 rs_761847384

2 SubmittersRCV001279917RCV001355033
NM_012203.2(GRHPR):c.578C>T (p.Ala193Val) SNV
Germline		 Chr9:37429816 Conflicting classifications of pathogenicity Primary hyperoxaluria, type II
Condition: not provided
Nephrolithiasis/nephrocalcinosis		 Criteria Provided
Conflicting Classifications
 rs_771231175

3 SubmittersRCV001279921RCV001464865RCV004035496
NM_012203.2(GRHPR):c.865+1G>T SNV
Germline		 Chr9:37432139 Pathogenic/Likely pathogenic Primary hyperoxaluria, type II
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_771990662

2 SubmittersRCV001536058RCV001873801
NM_000030.3(AGXT):c.305T>A (p.Val102Asp) SNV
Germline		 Chr2:240869309 Likely pathogenic Primary hyperoxaluria, type I Criteria Provided
Single Submitter
 rs_1304689724

1 SubmittersRCV001785899
NM_000030.3(AGXT):c.517T>C (p.Cys173Arg) SNV
Germline		 Chr2:240871442 Pathogenic/Likely pathogenic Primary hyperoxaluria, type I Criteria Provided
Multiple Submitters
No Conflicts
 rs_2106428650

2 SubmittersRCV003467981
NM_000030.3(AGXT):c.215A>T (p.Asn72Ile) SNV
Germline		 Chr2:240869219 Pathogenic/Likely pathogenic Condition: not provided
Primary hyperoxaluria, type I		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_113879010

2 SubmittersRCV001883482RCV003470988
NM_000030.3(AGXT):c.1065G>A (p.Thr355=) SNV
Germline		 Chr2:240878144 Conflicting classifications of pathogenicity Condition: not provided
Primary hyperoxaluria, type I
AGXT-related disorder		 Criteria Provided
Conflicting Classifications
 rs_143488099

3 SubmittersRCV001980161RCV002507675RCV003978440
NM_000030.3(AGXT):c.942+1G>A SNV
Germline		 Chr2:240877633 Pathogenic/Likely pathogenic Condition: not provided
Primary hyperoxaluria, type I		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_180177297

2 SubmittersRCV001953521RCV004571733
NM_000030.3(AGXT):c.528C>A (p.Tyr176Ter) SNV
Unknown		 Chr2:240872982 Likely pathogenic Primary hyperoxaluria, type I Criteria Provided
Single Submitter

1 SubmittersRCV002308178
NM_000030.3(AGXT):c.706A>T (p.Lys236Ter) SNV
Unknown		 Chr2:240875134 Likely pathogenic Primary hyperoxaluria, type I Criteria Provided
Single Submitter

1 SubmittersRCV002309366
NM_012203.2(GRHPR):c.496C>T (p.Gln166Ter) SNV
Germline		 Chr9:37429734 Pathogenic/Likely pathogenic Primary hyperoxaluria, type II
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV002310066RCV003542352
NM_000030.3(AGXT):c.934A>T (p.Lys312Ter) SNV
Unknown		 Chr2:240877624 Likely pathogenic Primary hyperoxaluria, type I Criteria Provided
Single Submitter

1 SubmittersRCV002310460
NM_012203.2(GRHPR):c.170G>A (p.Cys57Tyr) SNV
Germline		 Chr9:37424931 Likely pathogenic Primary hyperoxaluria, type II Criteria Provided
Single Submitter

1 SubmittersRCV002470188
NM_012203.2(GRHPR):c.181G>A (p.Asp61Asn) SNV
Germline		 Chr9:37424942 Conflicting classifications of pathogenicity Condition: not provided
Primary hyperoxaluria, type II		 Criteria Provided
Conflicting Classifications

2 SubmittersRCV003072288RCV003447334
NM_000030.3(AGXT):c.525-2A>T SNV
Germline		 Chr2:240872977 Pathogenic/Likely pathogenic Condition: not provided
Primary hyperoxaluria, type I		 Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV003084185RCV003465952
NM_000030.3(AGXT):c.1161C>A (p.Cys387Ter) SNV
Germline		 Chr2:240878803 Pathogenic Condition: not provided
Primary hyperoxaluria, type I		 Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV003072792RCV003475507
NM_000030.3(AGXT):c.121G>C (p.Gly41Arg) SNV
Germline		 Chr2:240868986 Pathogenic/Likely pathogenic Condition: not provided
Primary hyperoxaluria, type I		 Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV002664289RCV003466000
NM_000030.3(AGXT):c.188G>A (p.Gly63Asp) SNV
Germline		 Chr2:240869192 Conflicting classifications of pathogenicity Condition: not provided
Primary hyperoxaluria, type I		 Criteria Provided
Conflicting Classifications

2 SubmittersRCV002651631RCV003445215
NM_000030.3(AGXT):c.1078C>T (p.Arg360Trp) SNV
Germline		 Chr2:240878720 Likely pathogenic Condition: not provided
Primary hyperoxaluria, type I		 Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV002651634RCV004572813
NM_000030.3(AGXT):c.596-1G>A SNV
Germline		 Chr2:240873977 Pathogenic Primary hyperoxaluria, type I Criteria Provided
Single Submitter

1 SubmittersRCV002512430
NM_000030.3(AGXT):c.490C>T (p.Gln164Ter) SNV
Germline		 Chr2:240871415 Pathogenic/Likely pathogenic Condition: not provided
Primary hyperoxaluria, type I		 Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV002880908RCV003464622
NM_012203.2(GRHPR):c.626C>T (p.Ser209Phe) SNV
Germline		 Chr9:37430538 Pathogenic Condition: not provided
Primary hyperoxaluria, type II		 Criteria Provided
Multiple Submitters
No Conflicts

3 SubmittersRCV002943748RCV003445187
NM_012203.2(GRHPR):c.370C>T (p.Arg124Cys) SNV
Germline		 Chr9:37426620 Likely pathogenic Condition: not provided
Primary hyperoxaluria, type II		 Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV002995022RCV004572502
NM_012203.2(GRHPR):c.905G>C (p.Arg302Pro) SNV
Germline		 Chr9:37436700 Conflicting classifications of pathogenicity not specified
Primary hyperoxaluria, type II		 Criteria Provided
Conflicting Classifications

2 SubmittersRCV003317900RCV003445232
NM_000030.3(AGXT):c.190A>T (p.Ile64Phe) SNV
Germline		 Chr2:240869194 Conflicting classifications of pathogenicity Primary hyperoxaluria, type I
not specified		 Criteria Provided
Conflicting Classifications

2 SubmittersRCV003445263RCV003479520
NM_000030.3(AGXT):c.191T>A (p.Ile64Asn) SNV
Germline		 Chr2:240869195 Likely pathogenic Primary hyperoxaluria, type I Criteria Provided
Single Submitter

1 SubmittersRCV003445264
NM_000030.3(AGXT):c.292G>C (p.Asp98His) SNV
Germline		 Chr2:240869296 Likely pathogenic Primary hyperoxaluria, type I Criteria Provided
Single Submitter

1 SubmittersRCV003445266
NM_000030.3(AGXT):c.352C>A (p.Arg118Ser) SNV
Germline		 Chr2:240869356 Likely pathogenic Primary hyperoxaluria, type I Criteria Provided
Single Submitter

1 SubmittersRCV003445267
NM_000030.3(AGXT):c.402C>G (p.Tyr134Ter) SNV
Germline		 Chr2:240870687 Pathogenic Primary hyperoxaluria, type I Criteria Provided
Single Submitter

1 SubmittersRCV003445269
NM_000030.3(AGXT):c.560C>A (p.Ser187Tyr) SNV
Germline		 Chr2:240873014 Likely pathogenic Primary hyperoxaluria, type I Criteria Provided
Single Submitter

1 SubmittersRCV003445271
NM_000030.3(AGXT):c.595+1G>T SNV
Germline		 Chr2:240873050 Pathogenic Primary hyperoxaluria, type I Criteria Provided
Single Submitter

1 SubmittersRCV003445273
NM_000030.3(AGXT):c.638C>A (p.Ala213Asp) SNV
Germline		 Chr2:240874020 Likely pathogenic Primary hyperoxaluria, type I Criteria Provided
Single Submitter

1 SubmittersRCV003445274
NM_000030.3(AGXT):c.779A>G (p.Tyr260Cys) SNV
Germline		 Chr2:240875937 Likely pathogenic Primary hyperoxaluria, type I Criteria Provided
Single Submitter

1 SubmittersRCV003445278
NM_012203.2(GRHPR):c.68T>C (p.Leu23Pro) SNV
Germline		 Chr9:37422818 Pathogenic Primary hyperoxaluria, type II Criteria Provided
Single Submitter

1 SubmittersRCV003447375
NM_012203.2(GRHPR):c.344C>A (p.Ala115Glu) SNV
Germline		 Chr9:37426594 Conflicting classifications of pathogenicity Primary hyperoxaluria, type II Criteria Provided
Conflicting Classifications

2 SubmittersRCV003447376
NM_012203.2(GRHPR):c.412T>C (p.Trp138Arg) SNV
Germline		 Chr9:37428491 Likely pathogenic Primary hyperoxaluria, type II Criteria Provided
Single Submitter

1 SubmittersRCV003447379
NM_012203.2(GRHPR):c.287G>A (p.Arg96His) SNV
Germline		 Chr9:37425994 Likely pathogenic Primary hyperoxaluria, type II Criteria Provided
Single Submitter

1 SubmittersRCV003447388
NM_012203.2(GRHPR):c.288-1G>C SNV
Germline		 Chr9:37426537 Likely pathogenic Primary hyperoxaluria, type II Criteria Provided
Single Submitter

1 SubmittersRCV003447389
NM_000030.3(AGXT):c.283G>T (p.Glu95Ter) SNV
Unknown		 Chr2:240869287 Likely pathogenic Primary hyperoxaluria, type I Criteria Provided
Single Submitter

1 SubmittersRCV003476362
NM_012203.2(GRHPR):c.83+1G>A SNV
Unknown		 Chr9:37422834 Likely pathogenic Primary hyperoxaluria, type II Criteria Provided
Single Submitter

1 SubmittersRCV003476415
NM_012203.2(GRHPR):c.101G>A (p.Trp34Ter) SNV
Unknown		 Chr9:37424862 Likely pathogenic Primary hyperoxaluria, type II Criteria Provided
Single Submitter

1 SubmittersRCV003468301
NM_012203.2(GRHPR):c.865+2T>C SNV
Unknown		 Chr9:37432140 Likely pathogenic Primary hyperoxaluria, type II Criteria Provided
Single Submitter

1 SubmittersRCV003468303
NM_012203.2(GRHPR):c.599-1G>A SNV
Unknown		 Chr9:37430510 Likely pathogenic Primary hyperoxaluria, type II Criteria Provided
Single Submitter

1 SubmittersRCV003468306
NM_000030.3(AGXT):c.1072-1G>A SNV
Unknown		 Chr2:240878713 Likely pathogenic Primary hyperoxaluria, type I Criteria Provided
Single Submitter

1 SubmittersRCV003467992
NM_000030.3(AGXT):c.1014C>A (p.Tyr338Ter) SNV
Unknown		 Chr2:240878093 Likely pathogenic Primary hyperoxaluria, type I Criteria Provided
Single Submitter

1 SubmittersRCV003468010
NM_000030.3(AGXT):c.79G>T (p.Gly27Trp) SNV
Germline		 Chr2:240868944 Likely pathogenic Primary hyperoxaluria, type I Criteria Provided
Single Submitter

1 SubmittersRCV003448955
NM_000030.3(AGXT):c.731T>A (p.Ile244Asn) SNV
Germline		 Chr2:240875159 Pathogenic Primary hyperoxaluria, type I Criteria Provided
Single Submitter

1 SubmittersRCV003448957
NM_000030.3(AGXT):c.1120G>C (p.Asp374His) SNV
Germline		 Chr2:240878762 Pathogenic Primary hyperoxaluria, type I Criteria Provided
Single Submitter

1 SubmittersRCV003448960
NM_012203.2(GRHPR):c.494-2A>G SNV
Germline		 Chr9:37429730 Pathogenic Primary hyperoxaluria, type II Criteria Provided
Single Submitter

1 SubmittersRCV003448961
NM_012203.2(GRHPR):c.761T>C (p.Leu254Pro) SNV
Germline		 Chr9:37432034 Pathogenic Primary hyperoxaluria, type II Criteria Provided
Single Submitter

1 SubmittersRCV003448962
NM_012203.2(GRHPR):c.806A>G (p.Asp269Gly) SNV
Germline		 Chr9:37432079 Likely pathogenic Primary hyperoxaluria, type II Criteria Provided
Single Submitter

1 SubmittersRCV003448963
NM_000030.3(AGXT):c.469G>T (p.Glu157Ter) SNV
Germline		 Chr2:240871394 Pathogenic Primary hyperoxaluria, type I Criteria Provided
Single Submitter

1 SubmittersRCV003448968
NM_000030.3(AGXT):c.598A>G (p.Ile200Val) SNV
Germline		 Chr2:240873980 Conflicting classifications of pathogenicity Primary hyperoxaluria, type I
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications

2 SubmittersRCV003448970RCV004364712
NM_000030.3(AGXT):c.658A>T (p.Ile220Phe) SNV
Germline		 Chr2:240874040 Pathogenic Primary hyperoxaluria, type I Criteria Provided
Single Submitter

1 SubmittersRCV003448971
NM_000030.3(AGXT):c.693C>G (p.Tyr231Ter) SNV
Germline		 Chr2:240875121 Pathogenic Primary hyperoxaluria, type I Criteria Provided
Single Submitter

1 SubmittersRCV003448972
NM_000030.3(AGXT):c.140G>A (p.Gly47Glu) SNV
Germline		 Chr2:240869005 Likely pathogenic Primary hyperoxaluria, type I Criteria Provided
Single Submitter

1 SubmittersRCV003468678
NM_000030.3(AGXT):c.242C>G (p.Ser81Trp) SNV
Germline		 Chr2:240869246 Likely pathogenic Primary hyperoxaluria, type I Criteria Provided
Single Submitter

1 SubmittersRCV003468681
NM_000030.3(AGXT):c.244G>A (p.Gly82Arg) SNV
Germline		 Chr2:240869248 Likely pathogenic Primary hyperoxaluria, type I Criteria Provided
Single Submitter

1 SubmittersRCV003468682
NM_000030.3(AGXT):c.326G>A (p.Gly109Glu) SNV
Germline		 Chr2:240869330 Likely pathogenic Primary hyperoxaluria, type I Criteria Provided
Single Submitter

1 SubmittersRCV003468687
NM_000030.3(AGXT):c.346G>T (p.Gly116Trp) SNV
Germline		 Chr2:240869350 Pathogenic Primary hyperoxaluria, type I Criteria Provided
Single Submitter

1 SubmittersRCV003468688
NM_000030.3(AGXT):c.359-2A>G SNV
Germline		 Chr2:240870642 Likely pathogenic Primary hyperoxaluria, type I
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV003468689RCV003549105
NM_000030.3(AGXT):c.423+2T>C SNV
Germline		 Chr2:240870710 Likely pathogenic Primary hyperoxaluria, type I Criteria Provided
Single Submitter

1 SubmittersRCV003468691
NM_000030.3(AGXT):c.458T>A (p.Leu153Ter) SNV
Germline		 Chr2:240871383 Pathogenic Primary hyperoxaluria, type I Criteria Provided
Single Submitter

1 SubmittersRCV003468692
NM_000030.3(AGXT):c.469G>C (p.Glu157Gln) SNV
Germline		 Chr2:240871394 Likely pathogenic Primary hyperoxaluria, type I Criteria Provided
Single Submitter

1 SubmittersRCV003468693
NM_000030.3(AGXT):c.482G>A (p.Gly161Asp) SNV
Germline		 Chr2:240871407 Likely pathogenic Primary hyperoxaluria, type I Criteria Provided
Single Submitter

1 SubmittersRCV003468694
NM_000030.3(AGXT):c.551C>A (p.Ser184Ter) SNV
Germline		 Chr2:240873005 Pathogenic Primary hyperoxaluria, type I Criteria Provided
Single Submitter

1 SubmittersRCV003468696
NM_000030.3(AGXT):c.593A>C (p.Gln198Pro) SNV
Germline		 Chr2:240873047 Pathogenic Primary hyperoxaluria, type I Criteria Provided
Single Submitter

1 SubmittersRCV003468698
NM_000030.3(AGXT):c.595+1G>A SNV
Germline		 Chr2:240873050 Likely pathogenic Primary hyperoxaluria, type I Criteria Provided
Single Submitter

1 SubmittersRCV003468700
NM_000030.3(AGXT):c.595+2T>G SNV
Germline		 Chr2:240873051 Pathogenic Primary hyperoxaluria, type I Criteria Provided
Single Submitter

1 SubmittersRCV003468701
NM_000030.3(AGXT):c.602A>T (p.Asp201Val) SNV
Germline		 Chr2:240873984 Likely pathogenic Primary hyperoxaluria, type I Criteria Provided
Single Submitter

1 SubmittersRCV003468703
NM_000030.3(AGXT):c.622C>T (p.Gln208Ter) SNV
Germline		 Chr2:240874004 Pathogenic Primary hyperoxaluria, type I Criteria Provided
Single Submitter

1 SubmittersRCV003468704
NM_000030.3(AGXT):c.627G>T (p.Lys209Asn) SNV
Germline		 Chr2:240874009 Likely pathogenic Primary hyperoxaluria, type I Criteria Provided
Single Submitter

1 SubmittersRCV003468705
NM_000030.3(AGXT):c.632T>G (p.Leu211Arg) SNV
Germline		 Chr2:240874014 Likely pathogenic Primary hyperoxaluria, type I Criteria Provided
Single Submitter

1 SubmittersRCV003468706
NM_000030.3(AGXT):c.667A>C (p.Ser223Arg) SNV
Germline		 Chr2:240874049 Likely pathogenic Primary hyperoxaluria, type I Criteria Provided
Single Submitter

1 SubmittersRCV003468707
NM_000030.3(AGXT):c.680+1G>T SNV
Germline		 Chr2:240874063 Pathogenic Primary hyperoxaluria, type I Criteria Provided
Single Submitter

1 SubmittersRCV003468709
NM_000030.3(AGXT):c.681-1G>A SNV
Germline		 Chr2:240875108 Likely pathogenic Primary hyperoxaluria, type I Criteria Provided
Single Submitter

1 SubmittersRCV003468710
NM_000030.3(AGXT):c.139G>C (p.Gly47Arg) SNV
Germline		 Chr2:240869004 Likely pathogenic Primary hyperoxaluria, type I Criteria Provided
Single Submitter

1 SubmittersRCV003468719
NM_012203.2(GRHPR):c.422G>A (p.Trp141Ter) SNV
Unknown		 Chr9:37428501 Likely pathogenic Primary hyperoxaluria, type II Criteria Provided
Single Submitter

1 SubmittersRCV004576701
NM_012203.2(GRHPR):c.493+1G>A SNV
Unknown		 Chr9:37428573 Likely pathogenic Primary hyperoxaluria, type II Criteria Provided
Single Submitter

1 SubmittersRCV004576702