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Items: 1 to 100 of 171

VariationLocationGene(s)Protein changeCondition(s)Clinical significance
(Last reviewed)
Review statusAccession
1.
GRCh37:
Chr9:204193-44259464
CREB3, UNC13B, DOCK8-AS1, LINGO2, ARID3C, RPP25L, C9orf131, RNF38, GLIPR2, ACO1, PLIN2, ALDH1B1, NUDT2, AQP3, AQP7, BAG1, CA9, CCIN, CD72, CDKN2A, CDKN2B, CLTA, DMRT1, ELAVL2, FANCG, MLANA, GALT, IFNA8, IFNA10, IFNA13, IFNA14, IFNA16, IFNA17, IFNA21, IFNB1, IFNW1, IL11RA, INSL4, JAK2, MLLT3, MTAP, NDUFB6, NFIB, NFX1, NPR2, PAX5, PRSS3, PTPRD, RFX3, RLN1, RLN2, RMRP, RPS6, CCL19, CCL21, SH3GL2, SHB, FRMPD1, DNAI1, SIT1, SPINK4, GLDC, DNAJA1, IFNA1, IFNA2, IFNA4, IFNA5, SLC1A1, SMARCA2, SNAPC3, TEK, TESK1, TLN1, TPM2, TYRP1, VCP, VLDLR, RECK, MPDZ, CER1, PLAA, GRHPR, RGP1, MELK, RUSC2, ZBTB5, PUM3, GNE, RCL1, TOPORS, SIGMAR1, DMRT2, RRAGA, CCL27, PSIP1, INSL6, DCTN3, KANK1, PHF24, DDX58, SLC24A2, DNAJB5, DCAF12, CD274, STOML2, AK3, EXOSC3, UBAP1, CHMP5, TMEM8B, EQTN, BNC2, HAUS6, APTX, CNTLN, FOCAD, KDM4C, ZNF658, SPAG8, FBXO10, RANBP6, UBE2R2, SPATA6L, SMU1, CDC37L1, DENND4C, UBAP2, PLGRKT, KLHL9, OR2S2, MYORG, RIC1, GBA2, DMRT3, DMRTA1, POLR1E, LRRC19, NOL6, DCAF10, MOB3B, CAAP1, CNTNAP3, ERMP1, IFT74, FAM214B, PDCD1LG2, DOCK8, ZCCHC7, HINT2, C9orf24, PIGO, ARHGEF39, TPD52L3, IL33, DMAC1, SLC25A51, ADAMTSL1, TTC39B, TRMT10B, SAXO1, FREM1, KIAA2026, KCNV2, GLIS3, C9orf72, CCDC171, FAM219A, CCDC107, ANKRD18A, FAM205A, TUSC1, LURAP1L, IFNE, ZDHHC21, ACER2, KIF24, IGFBPL1, ENHO, SPATA31A6, FAM221B, OR13J1, HACD4, TMEM215, TOMM5, PLPP6, MIR101-2, MIR31, ANKRD20A3, ANKRD20A2, ANKRD18B, HRCT1, SPATA31A1, MSMP, SPATA31A3, SPATA31A5, CBWD7, CNTNAP3B, FAM166B, CDKN2B-AS1, IZUMO3, TAF1L, B4GALT1, IFNA6, CNTFR, IFNA7, UHRF2
Syndromic hydrocephalus due to diffuse villous hyperplasia of choroid plexusLikely pathogenic
(Dec 19, 2016)
criteria provided, single submitterVCV000559575
2.
GRCh37:
Chr9:23524426-87359888
GliomaLikely pathogenic
(Jun 5, 2017)
no assertion criteria providedVCV000617751
3.
GRCh37:
Chr9:37422744-37422745
GRCh38:
Chr9:37422747-37422748
GRHPRPrimary hyperoxaluria, type IIPathogenic
(Nov 27, 2014)
no assertion criteria providedVCV000204230
4.
GRCh37:
Chr9:37422748
GRCh38:
Chr9:37422751
GRHPRM1LPrimary hyperoxaluria, type IILikely pathogenic
(Mar 6, 2018)
criteria provided, single submitterVCV000556994
5.
GRCh37:
Chr9:37422748
GRCh38:
Chr9:37422751
GRHPRM1VPrimary hyperoxaluria, type IILikely pathogenic
(Sep 22, 2017)
criteria provided, single submitterVCV000554025
6.
GRCh37:
Chr9:37422749
GRCh38:
Chr9:37422752
GRHPRM1RPrimary hyperoxaluria, type IILikely pathogenic
(Apr 6, 2017)
criteria provided, single submitterVCV000551406
7.
GRCh37:
Chr9:37422760
GRCh38:
Chr9:37422763
GRHPRR5*not providedPathogenic
(Oct 2, 2018)
criteria provided, single submitterVCV000649477
8.
GRCh37:
Chr9:37422763
GRCh38:
Chr9:37422766
GRHPRL6FPrimary hyperoxaluriaUncertain significance
(Jun 14, 2016)
criteria provided, single submitterVCV000366851
9.
GRCh37:
Chr9:37422792
GRCh38:
Chr9:37422795
GRHPRA17fsPrimary hyperoxaluria, type IIPathogenic
(Nov 27, 2014)
no assertion criteria providedVCV000204245
10.
GRCh37:
Chr9:37422881
GRCh38:
Chr9:37422884
GRHPRPrimary hyperoxaluria, type IILikely benign
(Dec 21, 2017)
criteria provided, single submitterVCV000555775
11.
GRCh37:
Chr9:37422881-37422882
GRCh38:
Chr9:37422884-37422885
GRHPRPrimary hyperoxaluria, type IILikely benign
(Dec 9, 2017)
criteria provided, single submitterVCV000555494
12.
GRCh37:
Chr9:37422881
GRCh38:
Chr9:37422884
GRHPRPrimary hyperoxaluria, type IIUncertain significance
(Nov 27, 2014)
no assertion criteria providedVCV000204218
13.
GRCh37:
Chr9:37424829-37424830
GRCh38:
Chr9:37424832-37424833
GRHPRno interpretation for the single variantno interpretation for the single variantVCV000242573
14.
GRCh37:
Chr9:37424834-37424837
GRCh38:
Chr9:37424837-37424840
GRHPRno interpretation for the single variantno interpretation for the single variantVCV000242572
15.
GRCh37:
Chr9:37424834-37424837
Chr9:37424829-37424830
GRCh38:
Chr9:37424837-37424840
Chr9:37424832-37424833
GRHPR, GRHPRPathogenic
(Nov 27, 2014)
no assertion criteria providedVCV000204246
16.
GRCh37:
Chr9:37424840
GRCh38:
Chr9:37424843
GRHPRPrimary hyperoxaluria, type IIPathogenic
(Sep 25, 2017)
criteria provided, multiple submitters, no conflictsVCV000204241
17.
GRCh37:
Chr9:37424860
GRCh38:
Chr9:37424863
GRHPRW34*Primary hyperoxaluria, type IILikely pathogenic
(Nov 29, 2017)
criteria provided, single submitterVCV000204231
18.
GRCh37:
Chr9:37424861
GRCh38:
Chr9:37424864
GRHPRD35fsPrimary hyperoxaluria, type II, Nephrolithiasis, Nephrocalcinosis,
not provided
Pathogenic
(Dec 6, 2018)
criteria provided, multiple submitters, no conflictsVCV000005636
19.
GRCh37:
Chr9:37424897
GRCh38:
Chr9:37424900
GRHPRR47*Primary hyperoxaluria, type IIUncertain significance
(Apr 28, 2017)
criteria provided, single submitterVCV000632541
20.
GRCh37:
Chr9:37424912
GRCh38:
Chr9:37424915
GRHPRA52fsPrimary hyperoxaluria, type IILikely pathogenic
(Sep 7, 2016)
criteria provided, single submitterVCV000371365
21.
GRCh37:
Chr9:37424944-37424946
GRCh38:
Chr9:37424949-37424950
GRHPRV63fsPrimary hyperoxaluria, type IILikely pathogenic
(Jan 5, 2017)
criteria provided, single submitterVCV000550123
22.
GRCh37:
Chr9:37424961
GRCh38:
Chr9:37424964
GRHPRL68PPrimary hyperoxaluria, type IIPathogenic
(Nov 27, 2014)
no assertion criteria providedVCV000204232
23.
GRCh37:
Chr9:37424973
GRCh38:
Chr9:37424976
GRHPRPrimary hyperoxaluria, type IILikely pathogenic
(May 31, 2017)
criteria provided, single submitterVCV000552245
24.
GRCh37:
Chr9:37424973
GRCh38:
Chr9:37424976
GRHPRPrimary hyperoxaluria, type IILikely pathogenic
(Mar 31, 2017)
criteria provided, single submitterVCV000551339
25.
GRCh37:
Chr9:37424974
GRCh38:
Chr9:37424977
GRHPRPrimary hyperoxaluria, type IILikely pathogenic
(Oct 26, 2016)
criteria provided, single submitterVCV000371598
26.
GRCh37:
Chr9:37425908
GRCh38:
Chr9:37425911
GRHPRPrimary hyperoxaluria, type IIUncertain significance
(Nov 27, 2014)
no assertion criteria providedVCV000204219
27.
GRCh37:
Chr9:37425916-37425918
GRCh38:
Chr9:37425920-37425921
GRHPRPrimary hyperoxaluria, type IILikely pathogenic
(Mar 24, 2017)
criteria provided, single submitterVCV000551215
28.
GRCh37:
Chr9:37425932
GRCh38:
Chr9:37425935
GRHPRPrimary hyperoxaluria, type IILikely pathogenic
(Sep 14, 2016)
criteria provided, single submitterVCV000371394
29.
GRCh37:
Chr9:37425952-37425953
GRCh38:
Chr9:37425955-37425956
GRHPRPrimary hyperoxaluria, type IIPathogenic
(Nov 27, 2014)
no assertion criteria providedVCV000162021
30.
GRCh37:
Chr9:37425988-37425991
GRCh38:
Chr9:37425993-37425995
GRHPRPrimary hyperoxaluria, type IIUncertain significance
(Dec 12, 2017)
criteria provided, single submitterVCV000555539
31.
GRCh37:
Chr9:37425990
GRCh38:
Chr9:37425993
GRHPRR96CPrimary hyperoxaluriaUncertain significance
(Jun 14, 2016)
criteria provided, single submitterVCV000366852
32.
GRCh37:
Chr9:37425991
GRCh38:
Chr9:37425994
GRHPRR96LPrimary hyperoxaluria, type IIPathogenic
(Nov 27, 2014)
no assertion criteria providedVCV000204233
33.
GRCh37:
Chr9:37425993
GRCh38:
Chr9:37425996
GRHPRnot providedUncertain significance
(Sep 16, 2018)
no assertion criteria providedVCV000591504
34.
GRCh37:
Chr9:37426524
GRCh38:
Chr9:37426527
GRHPRPrimary hyperoxaluria, not specified, Primary hyperoxaluria, type II
Benign
(Oct 27, 2016)
criteria provided, multiple submitters, no conflictsVCV000204220
35.
GRCh37:
Chr9:37426533-37426535
GRCh38:
Chr9:37426536-37426538
GRHPRPrimary hyperoxaluria, type IIPathogenic
(Nov 27, 2014)
no assertion criteria providedVCV000204247
36.
GRCh37:
Chr9:37426542
GRCh38:
Chr9:37426545
GRHPRR99*Primary hyperoxaluria, not provided, Primary hyperoxaluria, type II
Pathogenic
(Dec 28, 2018)
criteria provided, multiple submitters, no conflictsVCV000005637
37.
GRCh37:
Chr9:37426555
GRCh38:
Chr9:37426558
GRHPRT103IPrimary hyperoxaluriaUncertain significance
(Jun 14, 2016)
criteria provided, single submitterVCV000366853
38.
GRCh37:
Chr9:37426583
GRCh38:
Chr9:37426586
GRHPRPrimary hyperoxaluriaUncertain significance
(Jun 14, 2016)
criteria provided, single submitterVCV000366854
39.
GRCh37:
Chr9:37426584
GRCh38:
Chr9:37426587
GRHPRE113*Primary hyperoxaluria, type IILikely pathogenic
(Oct 12, 2016)
criteria provided, single submitterVCV000371535
40.
GRCh37:
Chr9:37426584
GRCh38:
Chr9:37426587
GRHPRE113KPrimary hyperoxaluria, type IILikely pathogenic
(Apr 22, 2014)
criteria provided, single submitterVCV000188765
41.
GRCh37:
Chr9:37426597-37426598
GRCh38:
Chr9:37426600-37426601
GRHPRPrimary hyperoxaluria, type IIPathogenic
(Nov 27, 2014)
no assertion criteria providedVCV000204248
42.
GRCh37:
Chr9:37426622
GRCh38:
Chr9:37426625
GRHPRL126fsPrimary hyperoxaluria, type IIPathogenic
(Nov 27, 2014)
no assertion criteria providedVCV000204249
43.
GRCh37:
Chr9:37426645-37426648
GRCh38:
Chr9:37426653-37426655
GRHPRPrimary hyperoxaluria, type IIUncertain significance
(Feb 2, 2018)
criteria provided, single submitterVCV000556493
44.
GRCh37:
Chr9:37426651
GRCh38:
Chr9:37426654
GRHPRN135fsPrimary hyperoxaluria, type IILikely pathogenic
(Dec 11, 2015)
criteria provided, single submitterVCV000370187
45.
GRCh37:
Chr9:37426654-37426657
GRCh38:
Chr9:37426657-37426660
GRHPRPrimary hyperoxaluria, type IIPathogenic/Likely pathogenic
(Aug 3, 2018)
criteria provided, multiple submitters, no conflictsVCV000204250
46.
GRCh37:
Chr9:37426656
GRCh38:
Chr9:37426659
GRHPRNephrocalcinosis, NephrolithiasisLikely pathogenic
(Sep 8, 2017)
no assertion criteria providedVCV000548673
47.
GRCh37:
Chr9:37428480
GRCh38:
Chr9:37428483
GRHPRPrimary hyperoxaluria, type IILikely pathogenic
(Oct 6, 2017)
criteria provided, single submitterVCV000554052
48.
GRCh37:
Chr9:37428511-37428512
GRCh38:
Chr9:37428514-37428515
GRHPRW145fsPrimary hyperoxaluria, type IILikely pathogenic
(Oct 10, 2016)
criteria provided, single submitterVCV000371518
49.
GRCh37:
Chr9:37428517-37428518
GRCh38:
Chr9:37428520-37428521
GRHPRPrimary hyperoxaluria, type IILikely pathogenic
(Jul 7, 2016)
criteria provided, single submitterVCV000371124
50.
GRCh37:
Chr9:37428530
GRCh38:
Chr9:37428533
GRHPRnot provided, Primary hyperoxaluria, type IIPathogenic/Likely pathogenic
(Dec 10, 2018)
criteria provided, multiple submitters, no conflictsVCV000371016
51.
GRCh37:
Chr9:37428528-37428537
GRCh38:
Chr9:37428535-37428543
GRHPRPrimary hyperoxaluria, type IIUncertain significance
(Aug 25, 2017)
criteria provided, single submitterVCV000553469
52.
GRCh37:
Chr9:37428544
GRCh38:
Chr9:37428547
GRHPRPrimary hyperoxaluriaUncertain significance
(Jun 14, 2016)
criteria provided, single submitterVCV000366855
53.
GRCh37:
Chr9:37428554
GRCh38:
Chr9:37428557
GRHPRG160RPrimary hyperoxaluria, type IIPathogenic
(Nov 27, 2014)
no assertion criteria providedVCV000204234
54.
GRCh37:
Chr9:37428571
GRCh38:
Chr9:37428574
GRHPRPrimary hyperoxaluria, type IILikely pathogenic
(Nov 14, 2016)
criteria provided, single submitterVCV000204243
55.
GRCh37:
Chr9:37428578
GRCh38:
Chr9:37428581
GRHPRPrimary hyperoxaluria, not specifiedConflicting interpretations of pathogenicity
(Jun 14, 2016)
criteria provided, conflicting interpretationsVCV000260213
56.
GRCh37:
Chr9:37428596
GRCh38:
Chr9:37428599
GRHPRPrimary hyperoxaluria, type IIUncertain significance
(Nov 27, 2014)
no assertion criteria providedVCV000204221
57.
GRCh37:
Chr9:37429661
GRCh38:
Chr9:37429664
GRHPRPrimary hyperoxaluria, type IIUncertain significance
(Nov 27, 2014)
no assertion criteria providedVCV000204222
58.
GRCh37:
Chr9:37429729
GRCh38:
Chr9:37429732
GRHPRG165Dnot provided, Primary hyperoxaluria, Primary hyperoxaluria, type II
Pathogenic/Likely pathogenic
(Dec 4, 2018)
criteria provided, multiple submitters, no conflictsVCV000204235
59.
GRCh37:
Chr9:37429729-37429730
GRCh38:
Chr9:37429734
GRHPRQ166fsPrimary hyperoxaluria, type IILikely pathogenic
(Jan 10, 2017)
criteria provided, single submitterVCV000550345
60.
GRCh37:
Chr9:37429747
GRCh38:
Chr9:37429750
GRHPRR171HPrimary hyperoxaluriaUncertain significance
(Jun 14, 2016)
criteria provided, single submitterVCV000366856
61.
GRCh37:
Chr9:37429750
GRCh38:
Chr9:37429753
GRHPRL172fsPrimary hyperoxaluria, type IILikely pathogenic
(Jun 23, 2016)
criteria provided, single submitterVCV000371081
62.
GRCh37:
Chr9:37429775
GRCh38:
Chr9:37429778
GRHPRL181fsPrimary hyperoxaluria, type IIPathogenic
(Nov 27, 2014)
no assertion criteria providedVCV000204251
63.
GRCh37:
Chr9:37429814
GRCh38:
Chr9:37429817
GRHPRPrimary hyperoxaluria, type IIUncertain significance
(Nov 27, 2014)
no assertion criteria providedVCV000204223
64.
GRCh37:
Chr9:37429814
GRCh38:
Chr9:37429817
GRHPRPrimary hyperoxaluria, type II, Primary hyperoxaluria, not specified
Benign
(Jun 14, 2016)
criteria provided, multiple submitters, no conflictsVCV000021490
65.
GRCh37:
Chr9:37429826-37429827
GRCh38:
Chr9:37429829-37429830
GRHPRnot providedPathogenic
(Sep 4, 2018)
criteria provided, single submitterVCV000645622
66.
GRCh37:
Chr9:37429832
GRCh38:
Chr9:37429835
GRHPRF199fsPrimary hyperoxaluria, type IILikely pathogenic
(Dec 8, 2015)
criteria provided, single submitterVCV000370176
67.
GRCh37:
Chr9:37429832-37429833
GRCh38:
Chr9:37429837
GRHPRPrimary hyperoxaluria, type IILikely pathogenic
(Apr 11, 2018)
criteria provided, single submitterVCV000557777
68.
GRCh37:
Chr9:37429834
GRCh38:
Chr9:37429837
GRHPRnot provided, Primary hyperoxaluria, type IILikely pathogenic
(Dec 28, 2016)
criteria provided, single submitterVCV000550070
69.
GRCh37:
Chr9:37429978
GRCh38:
Chr9:37429981
GRHPRPrimary hyperoxaluria, type IIUncertain significance
(Nov 27, 2014)
no assertion criteria providedVCV000204224
70.
GRCh37:
Chr9:37430507
GRCh38:
Chr9:37430510
GRHPRPrimary hyperoxaluria, type IILikely pathogenic
(Nov 27, 2017)
criteria provided, single submitterVCV000555266
71.
GRCh37:
Chr9:37430510
GRCh38:
Chr9:37430513
GRHPRS201PPrimary hyperoxaluriaUncertain significance
(Jun 14, 2016)
criteria provided, single submitterVCV000366857
72.
GRCh37:
Chr9:37430517-37430518
GRCh38:
Chr9:37430520-37430521
GRHPRP203fsPrimary hyperoxaluria, type IIPathogenic
(Nov 7, 2016)
criteria provided, single submitterVCV000204252
73.
GRCh37:
Chr9:37430526-37430580
GRCh38:
Chr9:37430529-37430583
GRHPRA206fsPrimary hyperoxaluria, type IILikely pathogenicno assertion criteria providedVCV000599224
74.
GRCh37:
Chr9:37430591
GRCh38:
Chr9:37430594
GRHPRK228EPrimary hyperoxaluriaUncertain significance
(Jun 14, 2016)
criteria provided, single submitterVCV000366858
75.
GRCh37:
Chr9:37430603
GRCh38:
Chr9:37430606
GRHPRQ232fsPrimary hyperoxaluria, type IIPathogenic
(Nov 27, 2014)
no assertion criteria providedVCV000204253
76.
GRCh37:
Chr9:37430644
GRCh38:
Chr9:37430647
GRHPRnot providedLikely pathogenic
(Dec 4, 2018)
criteria provided, single submitterVCV000650172
77.
GRCh37:
Chr9:37430652
GRCh38:
Chr9:37430655
GRHPRPrimary hyperoxaluria, Primary hyperoxaluria, type IILikely benign
(Jun 14, 2016)
criteria provided, single submitterVCV000204225
78.
GRCh37:
Chr9:37432002-37432003
GRCh38:
Chr9:37432006
GRHPRPrimary hyperoxaluria, type IILikely pathogenic
(Mar 7, 2018)
criteria provided, single submitterVCV000557083
79.
GRCh37:
Chr9:37432004
GRCh38:
Chr9:37432007
GRHPRPrimary hyperoxaluria, type II, not providedLikely pathogenic
(Nov 7, 2018)
criteria provided, multiple submitters, no conflictsVCV000204244
80.
GRCh37:
Chr9:37432010
GRCh38:
Chr9:37432013
GRHPRD247GPrimary hyperoxaluria, type IIUncertain significance
(Nov 27, 2014)
no assertion criteria providedVCV000204226
81.
GRCh37:
Chr9:37432013
GRCh38:
Chr9:37432016
GRHPRV248DPrimary hyperoxaluria, type IIPathogenic
(Nov 27, 2014)
no assertion criteria providedVCV000204236
82.
GRCh37:
Chr9:37432018
GRCh38:
Chr9:37432021
GRHPRN250Ynot providedUncertain significance
(Sep 16, 2018)
no assertion criteria providedVCV000592073
83.
GRCh37:
Chr9:37432025
GRCh38:
Chr9:37432028
GRHPRPrimary hyperoxaluria, type IILikely pathogenic
(May 3, 2016)
criteria provided, single submitterVCV000370863
84.
GRCh37:
Chr9:37432050-37432052
GRCh38:
Chr9:37432054-37432055
GRHPRnot provided, Primary hyperoxaluria, type IIPathogenic/Likely pathogenic
(Nov 7, 2018)
criteria provided, multiple submitters, no conflictsVCV000551312
85.
GRCh37:
Chr9:37432052
GRCh38:
Chr9:37432056
GRHPRPrimary hyperoxaluria, type IILikely pathogenic
(Mar 17, 2017)
criteria provided, single submitterVCV000551167
86.
GRCh37:
Chr9:37432071
GRCh38:
Chr9:37432074
GRHPRPrimary hyperoxaluriaUncertain significance
(Jun 14, 2016)
criteria provided, single submitterVCV000366859
87.
GRCh37:
Chr9:37432082
GRCh38:
Chr9:37432085
GRHPRT271MPrimary hyperoxaluriaUncertain significance
(Jun 14, 2016)
criteria provided, single submitterVCV000366860
88.
GRCh37:
Chr9:37432118
GRCh38:
Chr9:37432122
GRHPRPrimary hyperoxaluria, type IILikely pathogenic
(Sep 5, 2017)
criteria provided, single submitterVCV000553655
89.
GRCh37:
Chr9:37432132-37432133
GRCh38:
Chr9:37432136
GRHPRC288fsPrimary hyperoxaluria, type IILikely pathogenic
(Mar 1, 2018)
criteria provided, single submitterVCV000556976
90.
GRCh37:
Chr9:37432134-37432135
GRCh38:
Chr9:37432137-37432138
GRHPRPrimary hyperoxaluria, Primary hyperoxaluria, type IIPathogenic/Likely pathogenic
(Jun 17, 2016)
criteria provided, multiple submitters, no conflictsVCV000162020
91.
GRCh37:
Chr9:37432136
GRCh38:
Chr9:37432140
GRHPRPrimary hyperoxaluria, type IIUncertain significance
(Jun 3, 2018)
criteria provided, single submitterVCV000558617
92.
GRCh37:
Chr9:37436633
GRCh38:
Chr9:37436636
GRHPRnot specified, Primary hyperoxaluria, type IIBenigncriteria provided, single submitterVCV000204227
93.
GRCh37:
Chr9:37436656
GRCh38:
Chr9:37436659
GRHPRPrimary hyperoxaluria, type IIUncertain significance
(Jul 31, 2017)
criteria provided, single submitterVCV000552954
94.
GRCh37:
Chr9:37436657
GRCh38:
Chr9:37436662-37436665
GRHPRPrimary hyperoxaluria, type IIUncertain significance
(Mar 30, 2018)
criteria provided, single submitterVCV000557542
95.
GRCh37:
Chr9:37436663
GRCh38:
Chr9:37436666
GRHPRPrimary hyperoxaluria, type IIUncertain significance
(Nov 27, 2014)
no assertion criteria providedVCV000204228
96.
GRCh37:
Chr9:37436681
GRCh38:
Chr9:37436684
GRHPRA297TPrimary hyperoxaluria, type IIUncertain significance
(Mar 17, 2017)
criteria provided, single submitterVCV000551151
97.
GRCh37:
Chr9:37436696
GRCh38:
Chr9:37436699
GRHPRR302Cnot provided, Primary hyperoxaluria, type IILikely pathogenic
(Aug 27, 2018)
criteria provided, single submitterVCV000162022
98.
GRCh37:
Chr9:37436697
GRCh38:
Chr9:37436700
GRHPRR302HPrimary hyperoxaluria, type IIPathogenic
(Nov 27, 2014)
no assertion criteria providedVCV000204237
99.
GRCh37:
Chr9:37436726
GRCh38:
Chr9:37436729
GRHPRN312DPrimary hyperoxaluria, type IIPathogenic
(Nov 27, 2014)
no assertion criteria providedVCV000204238
100.
GRCh37:
Chr9:37436725
GRCh38:
Chr9:37436730
GRHPRPrimary hyperoxaluria, type IIUncertain significance
(Sep 8, 2017)
criteria provided, single submitterVCV000553825
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