If a variant has more than one submission, it may be counted in more than one significance column. If this is the
case, the total number of variants will be less than the sum of the other cells.
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
association |
risk factor |
not provided |
total |
254
|
70
|
618
|
624
|
176
|
1
|
1
|
1
|
1660
|
Gene and significance breakdown #
Total genes and gene combinations: 48
Gene or gene combination |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
association |
risk factor |
not provided |
total |
GATA1
|
31
|
2
|
117
|
68
|
43
|
0 |
0 |
0 |
261
|
DIPK1A, RPL5
|
45
|
15
|
97
|
72
|
17
|
1
|
1
|
0 |
230
|
RPS19
|
48
|
14
|
63
|
64
|
17
|
0 |
0 |
0 |
197
|
RPS7
|
7
|
4
|
64
|
68
|
13
|
0 |
0 |
0 |
150
|
RPL11
|
31
|
9
|
42
|
52
|
12
|
0 |
0 |
0 |
134
|
RPS10, RPS10-NUDT3
|
6
|
1
|
51
|
55
|
16
|
0 |
0 |
0 |
121
|
RPS26
|
18
|
11
|
33
|
52
|
7
|
0 |
0 |
0 |
114
|
RPS24
|
8
|
3
|
40
|
58
|
10
|
0 |
0 |
0 |
113
|
IQCG, RPL35A
|
9
|
5
|
46
|
42
|
7
|
0 |
0 |
0 |
103
|
RPL26
|
1
|
0 |
30
|
32
|
6
|
0 |
0 |
1
|
67
|
RPL5
|
5
|
1
|
10
|
10
|
10
|
0 |
0 |
0 |
30
|
LOC129929673, RPL11
|
2
|
0 |
4
|
11
|
4
|
0 |
0 |
0 |
21
|
LOC130004144, RPS24
|
3
|
0 |
4
|
11
|
4
|
0 |
0 |
0 |
21
|
RPS17
|
6
|
1
|
0 |
6
|
0 |
0 |
0 |
0 |
13
|
RPL19
|
0 |
0 |
0 |
10
|
1
|
0 |
0 |
0 |
11
|
NKIRAS1, RPL15
|
6
|
1
|
3
|
0 |
0 |
0 |
0 |
0 |
10
|
MIR6797, RPS19
|
1
|
0 |
2
|
3
|
0 |
0 |
0 |
0 |
6
|
RPS10
|
0 |
1
|
1
|
3
|
1
|
0 |
0 |
0 |
6
|
GATA1, LOC119407405
|
0 |
0 |
1
|
2
|
2
|
0 |
0 |
0 |
5
|
HEATR3
|
5
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
5
|
RPS29
|
2
|
1
|
1
|
1
|
0 |
0 |
0 |
0 |
4
|
ARHGEF15, CTC1, KRBA2, ODF4, PFAS, RANGRF, RPL26, SLC25A35
|
1
|
0 |
2
|
0 |
0 |
0 |
0 |
0 |
3
|
GATA1, GLOD5, SUV39H1, WAS
|
1
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
2
|
LOC126805872, RPS27
|
1
|
0 |
0 |
0 |
1
|
0 |
0 |
0 |
2
|
LOC130004143, POLR3A, RPS24
|
0 |
0 |
0 |
2
|
0 |
0 |
0 |
0 |
2
|
LOC130004144, POLR3A, RPS24
|
0 |
0 |
0 |
1
|
2
|
0 |
0 |
0 |
2
|
RPL27
|
0 |
0 |
1
|
0 |
1
|
0 |
0 |
0 |
2
|
RPS20
|
2
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
2
|
RPS28
|
1
|
0 |
0 |
0 |
1
|
0 |
0 |
0 |
2
|
TP53
|
2
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
2
|
TSR2
|
1
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
2
|
ACTMAP, AKT2, ARHGEF1, ATP1A3, AXL, B3GNT8, B9D2, BCKDHA, BLVRB, C19orf47, CCDC97, CCNP, CD79A, CEACAM21, CEACAM3, CEACAM4, CEACAM5, CEACAM6, CEACAM7, CIC, CLC, CNFN, COQ8B, CYP2A13, CYP2A6, CYP2A7, CYP2B6, CYP2F1, CYP2S1, DEDD2, DLL3, DMAC2, DMRTC2, DYRK1B, EGLN2, EID2, EID2B, ERF, ERICH4, EXOSC5, FBL, FCGBP, GRIK5, GSK3A, HIPK4, HNRNPUL1, ITPKC, LEUTX, LGALS13, LGALS14, LGALS16, LIPE, LTBP4, LYPD4, MAP3K10, MEGF8, MIA, NUMBL, PAFAH1B3, PLD3, PLEKHG2, POU2F2, PRR19, PRX, PSMC4, RAB4B, RABAC1, RPS16, RPS19, SELENOV, SERTAD1, SERTAD3, SHKBP1, SNRPA, SPTBN4, SUPT5H, TGFB1, TIMM50, TMEM145, TMEM91, TTC9B, ZNF526, ZNF546, ZNF574, ZNF780A, ZNF780B
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
0 |
1
|
ADI1, COLEC11, RNASEH1, RPS7, TRAPPC12
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
0 |
1
|
ADI1, RNASEH1, RPS7, TRAPPC12
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
0 |
1
|
ALOX12B, ALOX15B, ALOXE3, ARHGEF15, AURKB, BORCS6, CHD3, CNTROB, CTC1, CYB5D1, DNAH2, EFNB3, GUCY2D, HES7, KCNAB3, KDM6B, KRBA2, LINC00324, LOC100128288, LOC105371520, LOC106794092, LOC112533665, LOC116276454, LOC121587574, LOC121587575, LOC124904106, LOC126862483, LOC126862484, LOC126862485, LOC129390832, LOC130060171, LOC130060172, LOC130060173, LOC130060174, LOC130060175, LOC130060176, LOC130060177, LOC130060178, LOC130060179, LOC130060180, LOC130060181, LOC130060182, LOC130060183, LOC130060184, LOC130060185, LOC130060186, LOC130060187, LOC130060188, LOC130060189, LOC130060190, LOC130060191, LOC130060192, LOC130060193, LOC130060194, LOC130060195, LOC130060196, LOC130060197, LOC130060198, LOC130060199, LOC130060200, LOC130060201, LOC130060202, LOC130060203, LOC130060204, LOC130060205, LOC130060206, LOC130060207, LOC130060208, LOC130060209, LOC130060210, LOC130060211, LOC130060212, LOC130060213, LOC130060214, LOC130060215, LOC130060216, LOC130060217, LOC130060218, LOC130060219, LOC130060220, LOC130060221, LOC130060222, LOC130060223, LOC130060224, LOC130060225, LOC130060226, LOC130060227, LOC130060228, LOC130060229, LOC130060230, LOC130060231, LOC130060232, LOC130060233, LOC130060234, LOC130060235, LOC130060236, LOC130060237, LOC130060238, LOC130060239, LOC130060240, LOC130060241, LOC130060242, LOC130060243, LOC130060244, LOC130060245, LOC130060246, MIR4314, MIR4521, MIR6883, NAA38, ODF4, PER1, PFAS, RANGRF, RNF227, RPL26, SCARNA21, SLC25A35, SNORD118, TMEM107, TMEM88, TP53, TRAPPC1, TRD-GTC2-11, TRG-GCC2-6, TRG-TCC3-1, TRI-AAT4-1, TRI-AAT5-5, TRK-TTT3-5, TRL-TAG1-1, TRP-CGG1-3, TRQ-CTG1-5, TRR-TCT2-1, TRS-AGA2-6, TRS-CGA1-1, TRS-GCT4-3, TRT-AGT1-1, TRT-AGT1-2, TRT-AGT5-1, TRW-CCA1-1, TRW-CCA3-3, VAMP2, WRAP53
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
AP3B2, CPEB1, EFL1, GOLGA6L10, GOLGA6L9, LOC102724034, LOC113939947, LOC129390726, LOC130057764, LOC130057765, LOC130057766, LOC130057767, LOC130057768, LOC130057769, LOC130057770, LOC130057771, LOC130057772, LOC130057773, RPS17, SAXO2
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
ARHGEF15, KRBA2, ODF4, RANGRF, RPL26, SLC25A35
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
0 |
1
|
BRDT, BTBD8, C1orf146, CCDC18, DIPK1A, DR1, EPHX4, EVI5, FNBP1L, GFI1, GLMN, MTF2, RPAP2, RPL5, SNORD21, TMED5
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
DIPK1A, RPL5, SNORA66
|
0 |
0 |
0 |
0 |
1
|
0 |
0 |
0 |
1
|
DIPK1A, RPL5, SNORD21
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
FYTTD1, IQCG, LMLN, LOC107133517, LOC112935925, LOC112935926, LOC123464506, LOC126806937, LOC126806938, LOC129389199, LOC129389200, LOC129389201, LOC129938318, LOC129938319, LOC129938320, LOC129938321, LOC129938322, LOC129938323, LOC129938324, LOC129938325, LOC129938326, LOC129938327, LOC129938328, LOC129938329, LOC129938330, LRCH3, RPL35A, RUBCN
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
IKZF4, LOC116268441, RPS26
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
IKZF4, RPS26, SUOX
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
LOC126862570, RPL27
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
RPL18
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
RPL35
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
RPS15A
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
ZNF699
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Submitter and significance breakdown #
Submitter |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
association |
risk factor |
not provided |
total |
Invitae
|
130
|
28
|
486
|
528
|
122
|
0 |
0 |
0 |
1294
|
Ambry Genetics
|
57
|
19
|
25
|
73
|
9
|
0 |
0 |
0 |
183
|
Illumina Laboratory Services, Illumina
|
0 |
0 |
57
|
38
|
75
|
0 |
0 |
0 |
169
|
Fulgent Genetics, Fulgent Genetics
|
1
|
0 |
31
|
68
|
6
|
0 |
0 |
0 |
106
|
OMIM
|
67
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
67
|
Revvity Omics, Revvity
|
9
|
7
|
29
|
0 |
0 |
0 |
0 |
0 |
45
|
Baylor Genetics
|
4
|
1
|
20
|
0 |
0 |
0 |
0 |
0 |
25
|
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard
|
6
|
2
|
3
|
0 |
1
|
0 |
0 |
0 |
12
|
3billion
|
4
|
4
|
1
|
0 |
0 |
0 |
0 |
0 |
9
|
Genome-Nilou Lab
|
0 |
0 |
0 |
1
|
7
|
0 |
0 |
0 |
8
|
Genomic Research Center, Shahid Beheshti University of Medical Sciences
|
1
|
0 |
3
|
0 |
0 |
0 |
0 |
0 |
4
|
University of Washington Center for Mendelian Genomics, University of Washington
|
4
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
4
|
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago
|
0 |
1
|
2
|
1
|
0 |
0 |
0 |
0 |
4
|
Johns Hopkins Genomics, Johns Hopkins University
|
1
|
0 |
3
|
0 |
0 |
0 |
0 |
0 |
4
|
Neuberg Supratech Reference Laboratories Pvt Ltd, Neuberg Centre for Genomic Medicine
|
1
|
1
|
2
|
0 |
0 |
0 |
0 |
0 |
4
|
Mendelics
|
1
|
0 |
0 |
2
|
0 |
0 |
0 |
0 |
3
|
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute
|
0 |
1
|
2
|
0 |
0 |
0 |
0 |
0 |
3
|
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen
|
1
|
1
|
1
|
0 |
0 |
0 |
0 |
0 |
3
|
Genetic Services Laboratory, University of Chicago
|
1
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
2
|
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics
|
2
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
2
|
Centre for Mendelian Genomics, University Medical Centre Ljubljana
|
1
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
2
|
Genetics and Molecular Pathology, SA Pathology
|
0 |
1
|
1
|
0 |
0 |
0 |
0 |
0 |
2
|
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota
|
2
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
2
|
Department of Pediatrics, Hirosaki University Graduate School of Medicine
|
2
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
2
|
Laboratory of Medical Genetics, National & Kapodistrian University of Athens
|
2
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
2
|
University of Washington Department of Laboratory Medicine, University of Washington
|
1
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
2
|
Bertuch Lab, Baylor College of Medicine
|
2
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
2
|
Clinical Laboratory Sciences, Imam Abdulrahman Bin Faisal University
|
0 |
0 |
0 |
0 |
0 |
1
|
1
|
0 |
2
|
Hematology Diagnostic Laboratory, Assistance Publique-Hôpitaux de Paris - Robert Debre Hospital
|
2
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
2
|
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein
|
1
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
2
|
MGZ Medical Genetics Center
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Genome Diagnostics Laboratory, University Medical Center Utrecht
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
GeneReviews
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Institute Of Human Genetics Munich, Klinikum Rechts Der Isar, Tu München
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Department of Medical Genetics, Oslo University Hospital
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Dr. Faghihi's Medical Genetic Center
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Research Group Niklas Dahl, Uppsala University
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
GenomeConnect, ClinGen
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
1
|
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Clinical Genomics Program, Stanford Medicine
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Institute of Human Genetics, University Hospital Muenster
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
UOSD Laboratory of Genetics & Genomics of Rare Diseases, Istituto Giannina Gaslini
|
0 |
0 |
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Gene Mapping Laboratory, Hacettepe University
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Dept. of Cytogenetics, ICMR- National Institute of Immunohaematology
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Pediatric Oncology and Hematology Unit, National and Kapodistrian University of Athens
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Leuven Cancer Institute, KU Leuven and UZ Leuven
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Eurofins-Biomnis
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Medical Genetics Center, Maternal and Child Health Hospital of Hubei Province
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
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