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.
Gene and significance breakdown #
Total genes and gene combinations: 74
Gene or gene combination |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
total |
CEP290
|
505
|
76
|
851
|
1466
|
88
|
2977
|
CC2D2A
|
176
|
50
|
528
|
876
|
41
|
1666
|
RPGRIP1L
|
206
|
58
|
516
|
767
|
44
|
1550
|
AHI1
|
150
|
36
|
427
|
580
|
53
|
1244
|
TMEM67
|
101
|
47
|
299
|
418
|
26
|
888
|
MKS1
|
88
|
34
|
221
|
415
|
16
|
770
|
INPP5E
|
50
|
20
|
328
|
246
|
43
|
657
|
OFD1
|
34
|
8
|
263
|
203
|
83
|
591
|
TCTN2
|
33
|
16
|
217
|
190
|
24
|
479
|
TCTN1
|
20
|
12
|
140
|
141
|
14
|
327
|
TMEM216
|
20
|
13
|
55
|
115
|
10
|
213
|
B9D1
|
5
|
2
|
62
|
65
|
6
|
139
|
CEP290, RLIG1
|
20
|
0 |
35
|
30
|
1
|
86
|
LOC130061271, MKS1
|
7
|
0 |
20
|
21
|
0 |
48
|
B9D2
|
4
|
1
|
15
|
12
|
8
|
39
|
CEP290, LOC129390514
|
2
|
2
|
11
|
19
|
1
|
35
|
LOC126863212, OFD1
|
2
|
0 |
19
|
7
|
2
|
30
|
CPLANE1
|
6
|
8
|
5
|
2
|
0 |
21
|
B9D1, LOC130060455
|
0 |
0 |
10
|
7
|
1
|
18
|
CEP41
|
0 |
0 |
9
|
3
|
1
|
13
|
TTC21B
|
0 |
0 |
9
|
1
|
3
|
13
|
ARMC9
|
0 |
10
|
0 |
0 |
0 |
10
|
TOGARAM1
|
8
|
8
|
1
|
0 |
0 |
9
|
AHI1, LOC128669075
|
0 |
0 |
0 |
8
|
0 |
8
|
TMEM237
|
1
|
1
|
4
|
1
|
1
|
8
|
CYB561A3, TMEM138
|
0 |
0 |
6
|
1
|
0 |
7
|
ARL13B
|
0 |
1
|
1
|
1
|
2
|
5
|
LOC130008755, TCTN1
|
0 |
0 |
0 |
4
|
1
|
5
|
KIAA0753
|
3
|
1
|
0 |
0 |
0 |
4
|
TMEM138
|
0 |
0 |
4
|
0 |
0 |
4
|
ATP6V0A2, TCTN2
|
0 |
0 |
1
|
0 |
2
|
3
|
C2CD3
|
3
|
0 |
0 |
0 |
0 |
3
|
NPHP1
|
0 |
0 |
2
|
0 |
1
|
3
|
PIBF1
|
0 |
2
|
2
|
0 |
0 |
3
|
TMEM218
|
3
|
0 |
0 |
0 |
0 |
3
|
ATP6V0A2, LOC130009117, TCTN2
|
0 |
0 |
0 |
2
|
0 |
2
|
B9D2, TGFB1
|
0 |
0 |
1
|
0 |
1
|
2
|
CBY1
|
2
|
0 |
0 |
0 |
0 |
2
|
CLUAP1
|
0 |
2
|
0 |
0 |
0 |
2
|
OFD1, TRAPPC2
|
0 |
0 |
2
|
0 |
0 |
2
|
USH2A
|
0 |
0 |
2
|
0 |
0 |
2
|
ABCA2, AGPAT2, AJM1, ANAPC2, ARRDC1, C8G, C9orf163, CACNA1B, CAMSAP1, CARD9, CCDC183, CIMIP2A, CLIC3, CYSRT1, DIPK1B, DNLZ, DPH7, DPP7, EDF1, EGFL7, EHMT1, ENTPD2, ENTPD8, ENTR1, EXD3, FBXW5, FUT7, GLT6D1, GPSM1, GRIN1, INPP5E, KCNT1, LCN1, LCN10, LCN12, LCN15, LCN6, LCN8, LCN9, LCNL1, LHX3, LINC02908, LOC651337, LRRC26, MAMDC4, MAN1B1, MIR126, MRPL41, MRPS2, NACC2, NDOR1, NELFB, NOTCH1, NOXA1, NPDC1, NRARP, NSMF, OBP2A, PAEP, PAXX, PHPT1, PMPCA, PNPLA7, PTGDS, QSOX2, RABL6, RNF208, RNF224, SAPCD2, SEC16A, SLC34A3, SNAPC4, SNHG7, SOHLH1, SSNA1, STPG3, TMEM141, TMEM203, TMEM210, TMEM250, TOR4A, TPRN, TRAF2, TUBB4B, UAP1L1, UBAC1, ZMYND19
|
1
|
0 |
0 |
0 |
0 |
1
|
AGPAT2, C9orf163, EGFL7, ENTR1, INPP5E, MIR126, NOTCH1, PMPCA, SEC16A
|
0 |
0 |
1
|
0 |
0 |
1
|
AHI1, LOC129389653, LOC129997223
|
1
|
0 |
0 |
0 |
0 |
1
|
AKAP1, APPBP2, BCAS3, BRIP1, C17orf47, C17orf67, CA4, CHCT1, CLTC, COIL, CUEDC1, DGKE, DHX40, DYNLL2, DYNLL2-DT, EPX, GDPD1, HEATR6, HSF5, LINC02875, LPO, MIR21, MKS1, MPO, MRPS23, MSI2, MTMR4, NACA2, NOG, OR4D1, OR4D2, PPM1D, PPM1E, PRR11, PTRH2, RAD51C, RNF43, RNFT1, RPS6KB1, SCPEP1, SEPTIN4, SKA2, SMG8, SRSF1, SUPT4H1, TBX2, TBX4, TEX14, TRIM25, TRIM37, TSPOAP1, TUBD1, USP32, VEZF1, VMP1, YPEL2
|
0 |
0 |
1
|
0 |
0 |
1
|
ALDH3A2, ALKBH5, ATPAF2, B9D1, COPS3, DRC3, DRG2, EPN2, EVPLL, FAM83G, FBXW10, FLCN, FLII, GID4, GRAP, GRAPL, LGALS9C, LLGL1, MAPK7, MED9, MFAP4, MIEF2, MIR33B, MPRIP, MYO15A, NT5M, PEMT, PLD6, PRPSAP2, RAI1, RASD1, RNF112, SHMT1, SLC47A1, SLC5A10, SMCR8, SNORD3A, SREBF1, TBC1D28, TNFRSF13B, TOM1L2, TOP3A, TRIM16L, TVP23B
|
0 |
0 |
1
|
0 |
0 |
1
|
ATXN3L, EGFL6, FAM9C, OFD1, RAB9A, TCEANC, TLR7, TLR8, TMSB4X, TRAPPC2
|
1
|
0 |
0 |
0 |
0 |
1
|
BST1, CC2D2A, CD38, FAM200B, FBXL5, FGFBP1, FGFBP2, PROM1, TAPT1
|
0 |
0 |
1
|
0 |
0 |
1
|
C12orf50, CEP290, KITLG, RLIG1, TMTC3
|
1
|
0 |
0 |
0 |
0 |
1
|
CEP290, LOC129390514, LOC130008346, RLIG1
|
1
|
0 |
0 |
0 |
0 |
1
|
CPLANE1, LOC129993816
|
0 |
0 |
0 |
1
|
0 |
1
|
CPSF7, SDHAF2, TMEM216
|
0 |
0 |
1
|
0 |
0 |
1
|
EIF2B1, GTF2H3, TCTN2
|
0 |
0 |
1
|
0 |
0 |
1
|
EXOC8
|
0 |
0 |
1
|
0 |
0 |
1
|
FAM149B1
|
0 |
1
|
0 |
0 |
0 |
1
|
FTO, IRX3, IRX5, IRX6, MMP2, RPGRIP1L
|
1
|
0 |
0 |
0 |
0 |
1
|
FTO, IRX3, IRX5, RPGRIP1L
|
0 |
0 |
1
|
0 |
0 |
1
|
FTO, RPGRIP1L
|
0 |
0 |
0 |
1
|
0 |
1
|
IFT172
|
1
|
0 |
0 |
0 |
0 |
1
|
INPP5E, SEC16A
|
0 |
0 |
1
|
0 |
0 |
1
|
KATNIP
|
0 |
1
|
0 |
0 |
0 |
1
|
KIAA0586
|
1
|
0 |
0 |
0 |
0 |
1
|
KIF7
|
0 |
0 |
1
|
0 |
0 |
1
|
LOC126863212, LOC130067975, LOC130067976, OFD1
|
1
|
0 |
0 |
0 |
0 |
1
|
LOC129935417, TMEM237
|
0 |
0 |
1
|
0 |
0 |
1
|
LRRC34
|
0 |
0 |
1
|
0 |
0 |
1
|
MICALL2
|
1
|
0 |
0 |
0 |
0 |
1
|
PDP1, TMEM67
|
1
|
0 |
0 |
0 |
0 |
1
|
PDPR
|
0 |
0 |
0 |
1
|
0 |
1
|
RCOR1
|
0 |
1
|
0 |
0 |
0 |
1
|
SLC30A7
|
1
|
0 |
0 |
0 |
0 |
1
|
TMEM17
|
0 |
0 |
1
|
0 |
0 |
1
|
TMEM231
|
0 |
0 |
1
|
0 |
0 |
1
|
WDPCP
|
0 |
0 |
1
|
0 |
0 |
1
|
Submitter and significance breakdown #
Submitter |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
total |
Invitae
|
1394
|
358
|
3910
|
5574
|
457
|
11692
|
Natera, Inc.
|
9
|
5
|
177
|
15
|
15
|
221
|
Illumina Laboratory Services, Illumina
|
0 |
0 |
115
|
22
|
27
|
164
|
UW Hindbrain Malformation Research Program, University of Washington
|
53
|
4
|
0 |
0 |
0 |
57
|
Mendelics
|
14
|
8
|
6
|
3
|
15
|
46
|
University of Washington Center for Mendelian Genomics, University of Washington
|
0 |
18
|
1
|
0 |
0 |
19
|
Centre for Mendelian Genomics, University Medical Centre Ljubljana
|
2
|
3
|
5
|
0 |
0 |
10
|
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine
|
3
|
5
|
0 |
0 |
0 |
8
|
OMIM
|
4
|
0 |
2
|
0 |
0 |
6
|
Department Of Translational Genomics (developmental Genetics Section), King Faisal Specialist Hospital & Research Centre
|
0 |
2
|
3
|
1
|
0 |
6
|
Genome-Nilou Lab
|
0 |
0 |
0 |
0 |
6
|
6
|
Baylor Genetics
|
0 |
0 |
5
|
0 |
0 |
5
|
Fulgent Genetics, Fulgent Genetics
|
0 |
0 |
2
|
2
|
0 |
4
|
Genomic Research Center, Shahid Beheshti University of Medical Sciences
|
0 |
1
|
2
|
1
|
0 |
4
|
Rare Disease Group, Clinical Genetics, Karolinska Institutet
|
3
|
1
|
0 |
0 |
0 |
4
|
Institute of Human Genetics, University Hospital of Duesseldorf
|
1
|
2
|
0 |
0 |
0 |
3
|
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard
|
0 |
0 |
3
|
0 |
0 |
3
|
Molecular and Clinical Genetics, Institute of Human Genetics P.A.S.
|
3
|
0 |
0 |
0 |
0 |
3
|
Biesecker Lab/Clinical Genomics Section, National Institutes of Health
|
0 |
2
|
0 |
0 |
0 |
2
|
GeneReviews
|
2
|
0 |
0 |
0 |
0 |
2
|
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute
|
1
|
1
|
0 |
0 |
0 |
2
|
Department of Medical Genetics, Oslo University Hospital
|
2
|
0 |
0 |
0 |
0 |
2
|
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine
|
2
|
0 |
0 |
0 |
0 |
2
|
Universitätsklinikum Salzburg, Universitätskinderklinik
|
1
|
1
|
0 |
0 |
0 |
2
|
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City
|
1
|
1
|
0 |
0 |
0 |
2
|
Reproductive Health Research and Development, BGI Genomics
|
1
|
0 |
1
|
0 |
0 |
2
|
Department of Neurology, Linyi People’s Hospital, The Eleventh Clinical Medical College of Qingdao University
|
2
|
0 |
0 |
0 |
0 |
2
|
Neuberg Supratech Reference Laboratories Pvt Ltd, Neuberg Centre for Genomic Medicine
|
0 |
0 |
2
|
0 |
0 |
2
|
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India
|
0 |
0 |
1
|
0 |
0 |
1
|
Yale Center for Mendelian Genomics, Yale University
|
0 |
1
|
0 |
0 |
0 |
1
|
Prenatal Diagnosis Center, The Sixth Medical Center of PLA General Hospital
|
1
|
0 |
0 |
0 |
0 |
1
|
DASA
|
1
|
0 |
0 |
0 |
0 |
1
|
Payam Genetics Center, General Welfare Department of North Khorasan Province
|
0 |
1
|
0 |
0 |
0 |
1
|
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