Total 144 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_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_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

5 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/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_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_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_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_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_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_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_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_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_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_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_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_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_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_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_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_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