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 |