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 |
not provided |
total |
898
|
238
|
2511
|
3206
|
228
|
3
|
7016
|
Gene and significance breakdown #
Total genes and gene combinations: 63
Gene or gene combination |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
not provided |
total |
BBS2
|
116
|
42
|
250
|
480
|
26
|
0 |
904
|
BBS9
|
73
|
17
|
286
|
445
|
40
|
0 |
858
|
BBS10
|
148
|
18
|
250
|
300
|
11
|
0 |
712
|
BBS12
|
118
|
11
|
215
|
271
|
24
|
0 |
630
|
BBS4
|
80
|
27
|
185
|
282
|
38
|
1
|
606
|
BBS7
|
60
|
15
|
195
|
258
|
19
|
0 |
545
|
ASTN2, TRIM32
|
45
|
3
|
262
|
224
|
6
|
0 |
539
|
WDPCP
|
26
|
11
|
271
|
193
|
16
|
0 |
516
|
BBS1, ZDHHC24
|
70
|
27
|
154
|
266
|
9
|
1
|
515
|
BBS1
|
72
|
14
|
85
|
205
|
7
|
1
|
379
|
TTC8
|
19
|
9
|
199
|
127
|
11
|
0 |
363
|
BBS5
|
30
|
11
|
93
|
133
|
12
|
0 |
279
|
BBS5, LOC129935068
|
5
|
1
|
9
|
12
|
1
|
0 |
28
|
MKKS
|
13
|
4
|
5
|
0 |
3
|
0 |
24
|
ARL6
|
6
|
5
|
1
|
1
|
1
|
0 |
14
|
BBS7, LOC129993036
|
0 |
0 |
4
|
7
|
0 |
0 |
11
|
CEP290
|
0 |
0 |
7
|
0 |
3
|
0 |
10
|
SDCCAG8
|
3
|
6
|
1
|
0 |
0 |
0 |
10
|
MKS1
|
0 |
2
|
4
|
0 |
0 |
0 |
6
|
ALMS1
|
1
|
3
|
1
|
0 |
0 |
0 |
5
|
NPHP4
|
0 |
0 |
5
|
0 |
0 |
0 |
5
|
AKT3, SDCCAG8
|
0 |
0 |
4
|
0 |
0 |
0 |
4
|
LOC128706665, LOC128706666, MKKS
|
0 |
0 |
2
|
1
|
1
|
0 |
4
|
BBS9, RP9
|
1
|
0 |
2
|
0 |
0 |
0 |
3
|
IFT172
|
0 |
2
|
1
|
0 |
0 |
0 |
3
|
CACNG2-DT, IFT27
|
1
|
0 |
1
|
0 |
0 |
0 |
2
|
CEP290, RLIG1
|
0 |
0 |
1
|
1
|
0 |
0 |
2
|
IFT172, LOC126806173
|
0 |
1
|
1
|
0 |
0 |
0 |
2
|
RPGRIP1
|
0 |
0 |
2
|
0 |
0 |
0 |
2
|
WDR19
|
0 |
0 |
2
|
0 |
0 |
0 |
2
|
ABCB11, BBS5, DHRS9, LRP2
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
ADGRG1, ADGRG3, ADGRG5, AMFR, ARL2BP, BBS2, CCDC102A, CCDC113, CCL17, CCL22, CETP, CFAP20, CIAPIN1, CNGB1, CNOT1, COQ9, CPNE2, CSNK2A2, CX3CL1, DOK4, DRC7, GINS3, GNAO1, GOT2, HERPUD1, KATNB1, KIFC3, MIR138-2, MMP15, MT1A, MT1B, MT1E, MT1F, MT1G, MT1H, MT1M, MT1X, MT2A, MT3, MT4, NDRG4, NLRC5, NUDT21, NUP93, OGFOD1, PLLP, POLR2C, PRSS54, PSME3IP1, RSPRY1, SETD6, SLC12A3, SLC38A7, SPMIP8, USB1, ZNF319
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
ADPGK, ARID3B, BBS4, CCDC33, CD276, CLK3, CPLX3, CSK, CYP11A1, CYP1A1, CYP1A2, EDC3, GOLGA6A, HCN4, INSYN1, ISLR, ISLR2, LMAN1L, LOXL1, MPI, NEO1, NPTN, PML, REC114, SCAMP2, SEMA7A, STOML1, STRA6, TBC1D21, UBL7, ULK3
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
AP5B1, ARL2, ATG2A, B4GAT1, BANF1, BATF2, BBS1, BRMS1, C11orf68, CAPN1, CATSPER1, CCDC85B, CD248, CDC42BPG, CDC42EP2, CDCA5, CFL1, CNIH2, CST6, CTSW, DPF2, DPP3, DRAP1, EFEMP2, EHBP1L1, EHD1, EIF1AD, FAM89B, FAU, FIBP, FOSL1, FRMD8, GAL3ST3, GPHA2, KAT5, KCNK7, KLC2, LTBP3, MAJIN, MALAT1, MAP3K11, MAP4K2, MEN1, MIR192, MIR194-2, MRPL11, MRPL49, MUS81, NAALADL1, NEAT1, NPAS4, OVOL1, PACS1, PCNX3, PELI3, POLA2, PPP2R5B, PYGM, RAB1B, RELA, RIN1, RNASEH2C, SAC3D1, SART1, SCYL1, SF1, SF3B2, SIPA1, SLC25A45, SLC29A2, SNX15, SNX32, SPDYC, SYVN1, TIGD3, TM7SF2, TMEM151A, TSGA10IP, VPS51, YIF1A, ZFPL1, ZNHIT2, ZNRD2
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
ARL6, CRYBG3, LOC129937104
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
ARL6IP6, LOC129934936
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
BBS1, DPP3, LOC130006125, ZDHHC24
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
BBS10, OSBPL8
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
BBS5, KLHL41
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
BBS5, LOC129388940
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
BBS5, LOC129935067, LOC129935068
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
BBS9, NT5C3A, RP9
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
CCDC28B
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
CEP19
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
COMT
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
EHBP1, MDH1, OTX1, PELI1, UGP2, VPS54, WDPCP
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
EML5, LOC129390658, LOC130056226, LOC130056227, LOC130056228, LOC130056229, LOC130056230, LOC130056231, LOC130056232, LOC130056233, LOC130056234, PTPN21, SPATA7, TTC8, ZC3H14
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
GLI1
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
GLI2
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
HTR2B, PSMD1
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
IFT27
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
IFT74
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
IQCB1
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
KCNAB2, NPHP4
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
LOC130061278, TSPOAP1
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
LZTFL1
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
NPHP1
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
NPHP3, NPHP3-ACAD11
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
PHLDB1
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
RPGRIP1L
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
TRAPPC3
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
TSPOAP1
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
USH2A
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Submitter and significance breakdown #
Submitter |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
not provided |
total |
Invitae
|
787
|
139
|
2424
|
3198
|
206
|
0 |
6754
|
Women's Health and Genetics/Laboratory Corporation of America, LabCorp
|
56
|
46
|
0 |
1
|
1
|
0 |
104
|
SN ONGC Dept of Genetics and Molecular biology Vision Research Foundation
|
42
|
17
|
37
|
0 |
0 |
0 |
96
|
Illumina Laboratory Services, Illumina
|
0 |
0 |
43
|
7
|
7
|
0 |
57
|
Laboratory of Medical Genetics (UMR_S 1112), INSERM/Strasbourg University
|
53
|
0 |
0 |
0 |
0 |
0 |
53
|
GeneReviews
|
9
|
0 |
0 |
0 |
16
|
0 |
25
|
Advanced Center For Translational And Genetic Medicine, Ann & Robert H. Lurie Children's Hospital Of Chicago
|
1
|
15
|
0 |
0 |
0 |
0 |
16
|
Department Of Translational Genomics (developmental Genetics Section), King Faisal Specialist Hospital & Research Centre
|
10
|
3
|
0 |
0 |
0 |
0 |
13
|
Sharon lab, Hadassah-Hebrew University Medical Center
|
9
|
4
|
0 |
0 |
0 |
0 |
13
|
MAGI'S LAB - Medical Genetics Laboratory, MAGI GROUP
|
6
|
3
|
3
|
0 |
0 |
0 |
12
|
Molecular Genetics Laboratory, Institute for Ophthalmic Research
|
8
|
0 |
0 |
0 |
0 |
0 |
8
|
Sydney Genome Diagnostics, Children's Hospital Westmead
|
2
|
4
|
2
|
0 |
0 |
0 |
8
|
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet
|
3
|
3
|
1
|
0 |
0 |
0 |
7
|
Counsyl
|
0 |
5
|
0 |
0 |
0 |
0 |
5
|
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine
|
1
|
3
|
0 |
0 |
0 |
0 |
4
|
Tolun Lab, Human Genetics Laboratory, Bogazici University
|
1
|
0 |
3
|
0 |
0 |
0 |
4
|
Clinical Genomics Laboratory, IWK Health Center
|
0 |
1
|
1
|
0 |
0 |
0 |
2
|
GenomeConnect - Invitae Patient Insights Network
|
0 |
0 |
0 |
0 |
0 |
2
|
2
|
OMIM
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Natera, Inc.
|
0 |
0 |
0 |
0 |
1
|
0 |
1
|
Genomic Research Center, Shahid Beheshti University of Medical Sciences
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
GenomeConnect, ClinGen
|
0 |
0 |
0 |
0 |
0 |
1
|
1
|
Kariminejad - Najmabadi Pathology & Genetics Center
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Broad Institute Rare Disease Group, Broad Institute
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
UNC Molecular Genetics Laboratory, University of North Carolina at Chapel Hill
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Ophthalmic Genetics Group, Institute of Molecular and Clinical Ophthalmology Basel
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Division of Human Genetics, National Health Laboratory Service/University of the Witwatersrand
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
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