Total 157 pathogenic variants reported for Primary hyperoxaluria, type II 
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_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_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

6 SubmittersRCV000169087RCV002517625

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 Primary hyperoxaluria, type II
Condition: not provided
Criteria Provided
Single Submitter
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 Conflicting classifications of pathogenicity Primary hyperoxaluria, type II Criteria Provided
Conflicting Classifications
CA275889 rs_180177312

4 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

13 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

4 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_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
not specified
Criteria Provided
Conflicting Classifications
CA5059061 rs_142509393

6 SubmittersRCV000405730RCV000885870RCV002338963RCV005434892

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

4 SubmittersRCV000306847RCV000967757RCV002418225

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
Single Submitter
CA16041324 rs_1057517398

2 SubmittersRCV000410412

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

3 SubmittersRCV000412226RCV002523876

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

5 SubmittersRCV000490104RCV001167414RCV005438003

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
CA5059032 rs_757796926

5 SubmittersRCV000662322RCV001223285RCV001835065

NM_012203.2(GRHPR):c.1A>T (p.Met1Leu) SNV
Unknown
Chr9:37422751 Likely pathogenic Primary hyperoxaluria, type II No Assertion Criteria Provided
CA373441156 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
Single Submitter
CA373441760 rs_1244822375

2 SubmittersRCV000666372RCV002530681

NM_012203.2(GRHPR):c.2T>G (p.Met1Arg) SNV
Unknown
Chr9:37422752 Likely pathogenic Primary hyperoxaluria, type II No Assertion Criteria Provided
CA373441159 rs_1554746097

1 SubmittersRCV000666459

NM_012203.2(GRHPR):c.599-1G>C SNV
Unknown
Chr9:37430510 Likely pathogenic Primary hyperoxaluria, type II Criteria Provided
Single Submitter
CA373443644 rs_1422977131

2 SubmittersRCV000671056

NM_012203.2(GRHPR):c.889G>A (p.Ala297Thr) SNV
Germline
Chr9:37436684 Likely pathogenic Primary hyperoxaluria, type II Criteria Provided
Single Submitter
CA192896250 rs_200632069

2 SubmittersRCV000666135

NM_012203.2(GRHPR):c.958G>T (p.Glu320Ter) SNV
Germline
Chr9:37436753 Pathogenic/Likely pathogenic Primary hyperoxaluria, type II
Condition: not provided
Criteria Provided
Multiple Submitters
No Conflicts
CA373445481 rs_1331106064

4 SubmittersRCV000673330RCV002531337

NM_012203.2(GRHPR):c.1A>G (p.Met1Val) SNV
Germline
Chr9:37422751 Pathogenic Primary hyperoxaluria, type II Criteria Provided
Single Submitter
CA373441155 rs_1554746094

2 SubmittersRCV000669576

NM_012203.2(GRHPR):c.214+1G>C SNV
Unknown
Chr9:37424976 Likely pathogenic Primary hyperoxaluria, type II No Assertion Criteria Provided
CA373441762 rs_1244822375

1 SubmittersRCV000667472

NM_012203.2(GRHPR):c.405-1G>A SNV
Unknown
Chr9:37428483 Likely pathogenic Primary hyperoxaluria, type II No Assertion Criteria Provided
CA5059052 rs_779208888

1 SubmittersRCV000669610

NM_012203.2(GRHPR):c.598+1G>T SNV
Germline
Chr9:37429837 Conflicting classifications of pathogenicity Condition: not provided
Primary hyperoxaluria, type II
No Assertion Criteria Provided
CA192890660 rs_111256477

2 SubmittersRCV000723226RCV000664698

NM_012203.2(GRHPR):c.866-2A>G SNV
Germline
Chr9:37436659 Likely pathogenic Primary hyperoxaluria, type II Criteria Provided
Single Submitter
CA5059334 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
CA373442362 rs_1564297234

2 SubmittersRCV000722683RCV003447157

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
CA5058931 rs_774654020

6 SubmittersRCV000779582RCV001042856RCV003392593

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
CA5059183 rs_148049120

6 SubmittersRCV000805272RCV001784426

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
CA5059172 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
CA5058967 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
CA5059171 rs_146227450

3 SubmittersRCV000941275RCV001165838

NM_012203.2(GRHPR):c.83+1G>C SNV
Germline
Chr9:37422834 Pathogenic/Likely pathogenic Condition: not provided
Primary hyperoxaluria, type II
Criteria Provided
Multiple Submitters
No Conflicts
CA373441327 rs_1822898131

3 SubmittersRCV001044981RCV003467737

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
CA5059140 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
CA5059178 rs_185747820

4 SubmittersRCV001167411RCV001355504RCV002365817

NM_012203.2(GRHPR):c.391G>A (p.Glu131Lys) SNV
Germline
Chr9:37426641 Conflicting classifications of pathogenicity Condition: not provided
Primary hyperoxaluria, type II
Nephrolithiasis/nephrocalcinosis
Criteria Provided
Conflicting Classifications
CA5059030 rs_369339903

4 SubmittersRCV001243580RCV001279920RCV005348393

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
CA5059254 rs_369950120

4 SubmittersRCV001244319RCV001829926

NM_012203.2(GRHPR):c.136G>T (p.Glu46Ter) SNV
Unknown
Chr9:37424897 Likely pathogenic Primary hyperoxaluria, type II Criteria Provided
Single Submitter
CA373441468 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
CA373442456 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
CA373442781 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
CA5058890 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
CA5059147 rs_771231175

3 SubmittersRCV001279921RCV001464865RCV004035496

NM_012203.2(GRHPR):c.343G>A (p.Ala115Thr) SNV
Germline
Chr9:37426593 Conflicting classifications of pathogenicity Condition: not provided
Nephrolithiasis/nephrocalcinosis
Primary hyperoxaluria, type II
Criteria Provided
Conflicting Classifications
CA5059008 rs_113602485

3 SubmittersRCV001418398RCV002456676RCV005040277

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
CA373444620 rs_771990662

3 SubmittersRCV001536058RCV001873801

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
CA373442956 rs_2489242940

2 SubmittersRCV002310066RCV003542352

NM_012203.2(GRHPR):c.667G>A (p.Glu223Lys) SNV
Germline
Chr9:37430579 Conflicting classifications of pathogenicity Nephrolithiasis/nephrocalcinosis
Primary hyperoxaluria, type II
Criteria Provided
Conflicting Classifications
CA5059173 rs_762313648

2 SubmittersRCV002367008RCV005400535

NM_012203.2(GRHPR):c.170G>A (p.Cys57Tyr) SNV
Germline
Chr9:37424931 Likely pathogenic Primary hyperoxaluria, type II Criteria Provided
Single Submitter
CA373441586 rs_1455078314

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
CA5058950 rs_371660673

4 SubmittersRCV003072288RCV003447334

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
CA5059162 rs_375014308

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
CA5059017 rs_372712521

3 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
CA373445365 rs_180177323

2 SubmittersRCV003317900RCV003445232

NM_012203.2(GRHPR):c.68T>C (p.Leu23Pro) SNV
Germline
Chr9:37422818 Pathogenic Primary hyperoxaluria, type II Criteria Provided
Single Submitter
CA373441296 rs_2118849212

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
CA373442541 rs_2489236019

2 SubmittersRCV003447376

NM_012203.2(GRHPR):c.412T>C (p.Trp138Arg) SNV
Germline
Chr9:37428491 Pathogenic/Likely pathogenic Primary hyperoxaluria, type II Criteria Provided
Multiple Submitters
No Conflicts
CA5059053 rs_746364242

2 SubmittersRCV003447379

NM_012203.2(GRHPR):c.287G>A (p.Arg96His) SNV
Germline
Chr9:37425994 Likely pathogenic Primary hyperoxaluria, type II Criteria Provided
Single Submitter
CA192887859 rs_796052078

1 SubmittersRCV003447388

NM_012203.2(GRHPR):c.288-1G>C SNV
Germline
Chr9:37426537 Likely pathogenic Primary hyperoxaluria, type II Criteria Provided
Single Submitter
CA373442405 rs_1244240617

1 SubmittersRCV003447389

NM_012203.2(GRHPR):c.83+1G>A SNV
Unknown
Chr9:37422834 Likely pathogenic Primary hyperoxaluria, type II Criteria Provided
Single Submitter
CA373441326 rs_1822898131

1 SubmittersRCV003476415

NM_012203.2(GRHPR):c.101G>A (p.Trp34Ter) SNV
Germline
Chr9:37424862 Likely pathogenic Primary hyperoxaluria, type II Criteria Provided
Multiple Submitters
No Conflicts
CA373441376 rs_2489231890

3 SubmittersRCV003468301

NM_012203.2(GRHPR):c.865+2T>C SNV
Unknown
Chr9:37432140 Likely pathogenic Primary hyperoxaluria, type II Criteria Provided
Single Submitter
CA373444622 rs_2489249571

1 SubmittersRCV003468303

NM_012203.2(GRHPR):c.599-1G>A SNV
Unknown
Chr9:37430510 Likely pathogenic Primary hyperoxaluria, type II Criteria Provided
Single Submitter
CA373443643 rs_1422977131

1 SubmittersRCV003468306

NM_012203.2(GRHPR):c.494-2A>G SNV
Germline
Chr9:37429730 Pathogenic/Likely pathogenic Primary hyperoxaluria, type II Criteria Provided
Multiple Submitters
No Conflicts
CA373442940 rs_1823266560

2 SubmittersRCV003448961

NM_012203.2(GRHPR):c.761T>C (p.Leu254Pro) SNV
Germline
Chr9:37432034 Pathogenic Primary hyperoxaluria, type II Criteria Provided
Single Submitter
CA373444400 rs_2489249100

1 SubmittersRCV003448962

NM_012203.2(GRHPR):c.806A>G (p.Asp269Gly) SNV
Germline
Chr9:37432079 Likely pathogenic Primary hyperoxaluria, type II Criteria Provided
Multiple Submitters
No Conflicts
CA192894360 rs_369698939

2 SubmittersRCV003448963

NM_012203.2(GRHPR):c.622C>T (p.Gln208Ter) SNV
Germline
Chr9:37430534 Pathogenic Condition: not provided
Primary hyperoxaluria, type II
Criteria Provided
Single Submitter
CA373443720 rs_2489245051

2 SubmittersRCV003693539RCV005616744

NM_012203.2(GRHPR):c.97C>T (p.Gln33Ter) SNV
Germline
Chr9:37424858 Pathogenic Condition: not provided
Primary hyperoxaluria, type II
Criteria Provided
Multiple Submitters
No Conflicts
CA373441367 rs_2489231853

2 SubmittersRCV003688360RCV005047761

NM_012203.2(GRHPR):c.865+1G>A SNV
Germline
Chr9:37432139 Pathogenic/Likely pathogenic Condition: not provided
Primary hyperoxaluria, type II
Criteria Provided
Multiple Submitters
No Conflicts
CA373444619 rs_771990662

2 SubmittersRCV003727080RCV005063146

NM_012203.2(GRHPR):c.214+1G>A SNV
Germline
Chr9:37424976 Likely pathogenic Condition: not provided
Primary hyperoxaluria, type II
Criteria Provided
Single Submitter
CA373441758 rs_1244822375

2 SubmittersRCV003879846RCV004759334

NM_012203.2(GRHPR):c.422G>A (p.Trp141Ter) SNV
Unknown
Chr9:37428501 Likely pathogenic Primary hyperoxaluria, type II Criteria Provided
Single Submitter
rs_2489240009

1 SubmittersRCV004576701

NM_012203.2(GRHPR):c.493+1G>A SNV
Unknown
Chr9:37428573 Likely pathogenic Primary hyperoxaluria, type II Criteria Provided
Single Submitter
rs_2489240316

1 SubmittersRCV004576702

NM_012203.2(GRHPR):c.419C>T (p.Ser140Leu) SNV
Germline
Chr9:37428498 Likely pathogenic Primary hyperoxaluria, type II Criteria Provided
Single Submitter

2 SubmittersRCV004759727

NM_012203.2(GRHPR):c.805G>C (p.Asp269His) SNV
Germline
Chr9:37432078 Likely pathogenic Primary hyperoxaluria, type II No Assertion Criteria Provided

1 SubmittersRCV004759728

NM_012203.2(GRHPR):c.359T>C (p.Leu120Pro) SNV
Germline
Chr9:37426609 Likely pathogenic Primary hyperoxaluria, type II No Assertion Criteria Provided

1 SubmittersRCV004759729