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 |
likely pathogenic, low penetrance |
risk factor |
not provided |
total |
414
|
77
|
1359
|
959
|
229
|
1
|
1
|
3
|
15
|
3027
|
Gene and significance breakdown #
Total genes and gene combinations: 127
Gene or gene combination |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
association |
likely pathogenic, low penetrance |
risk factor |
not provided |
total |
DNAH1
|
60
|
27
|
823
|
838
|
143
|
0 |
0 |
0 |
1
|
1882
|
FANCM
|
7
|
1
|
203
|
29
|
6
|
0 |
0 |
0 |
0 |
246
|
WDR19
|
2
|
6
|
74
|
31
|
1
|
0 |
0 |
0 |
0 |
114
|
NR5A1
|
27
|
9
|
36
|
20
|
17
|
0 |
0 |
0 |
0 |
107
|
CATSPER1
|
2
|
1
|
57
|
5
|
7
|
0 |
0 |
0 |
2
|
72
|
SPATA16
|
1
|
0 |
40
|
6
|
6
|
0 |
0 |
0 |
0 |
52
|
DNAH8
|
5
|
0 |
21
|
8
|
1
|
0 |
0 |
0 |
0 |
34
|
AURKC
|
4
|
0 |
20
|
4
|
4
|
0 |
0 |
0 |
0 |
31
|
TEX15
|
6
|
3
|
17
|
5
|
0 |
0 |
0 |
0 |
0 |
31
|
SPEF2
|
7
|
0 |
1
|
2
|
9
|
0 |
0 |
0 |
0 |
19
|
DNHD1
|
6
|
8
|
6
|
2
|
0 |
0 |
0 |
0 |
0 |
18
|
FSIP2
|
11
|
1
|
3
|
0 |
0 |
0 |
0 |
0 |
0 |
15
|
SYCP3
|
3
|
0 |
5
|
1
|
6
|
0 |
0 |
0 |
0 |
15
|
CFAP43
|
11
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
12
|
MSH4
|
7
|
0 |
0 |
0 |
5
|
0 |
0 |
0 |
0 |
12
|
STAG3
|
5
|
0 |
0 |
0 |
6
|
0 |
0 |
0 |
0 |
11
|
PIK3C2G, PLCZ1
|
8
|
1
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
10
|
PMFBP1
|
7
|
2
|
1
|
0 |
1
|
0 |
0 |
0 |
0 |
10
|
CFAP69
|
4
|
0 |
0 |
0 |
5
|
0 |
0 |
0 |
0 |
9
|
DNAH17
|
6
|
2
|
1
|
1
|
0 |
0 |
0 |
0 |
0 |
9
|
DPY19L2
|
7
|
0 |
2
|
0 |
0 |
0 |
0 |
0 |
0 |
9
|
CFAP44, LOC127898559
|
6
|
1
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
8
|
DNAH2
|
6
|
0 |
2
|
0 |
0 |
0 |
0 |
0 |
0 |
8
|
QRICH2
|
4
|
0 |
1
|
0 |
3
|
0 |
0 |
0 |
0 |
8
|
CFAP61
|
7
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
7
|
FANCM, LOC130055524
|
0 |
0 |
5
|
2
|
0 |
0 |
0 |
0 |
0 |
7
|
KLHL10
|
4
|
0 |
3
|
1
|
1
|
0 |
0 |
0 |
0 |
7
|
M1AP
|
5
|
0 |
2
|
0 |
0 |
0 |
1
|
0 |
0 |
7
|
PNLDC1
|
6
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
7
|
SHOC1
|
7
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
7
|
SLC26A8
|
6
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
7
|
CFAP58
|
5
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
6
|
CFAP65
|
3
|
0 |
3
|
0 |
0 |
0 |
0 |
0 |
0 |
6
|
CHPT1, SYCP3
|
0 |
0 |
2
|
1
|
3
|
0 |
0 |
0 |
0 |
6
|
DNAH3
|
2
|
4
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
6
|
SUN5
|
6
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
6
|
TTC29
|
6
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
6
|
ACTL7A
|
5
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
5
|
ARMC2
|
5
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
5
|
FKBP6
|
5
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
5
|
KASH5
|
5
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
5
|
MEIOB
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
5
|
5
|
TEX14
|
2
|
1
|
2
|
0 |
0 |
0 |
0 |
0 |
0 |
5
|
TTC21A
|
5
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
5
|
ZMYND15
|
4
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
5
|
GCNA
|
4
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
4
|
HFM1
|
4
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
4
|
MSH5, MSH5-SAPCD1
|
3
|
0 |
0 |
0 |
1
|
0 |
0 |
0 |
0 |
4
|
STRC
|
1
|
1
|
1
|
1
|
0 |
0 |
0 |
0 |
0 |
4
|
TDRD9
|
1
|
0 |
3
|
0 |
0 |
0 |
0 |
0 |
0 |
4
|
TEX11
|
4
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
4
|
USP9Y
|
1
|
0 |
3
|
0 |
0 |
0 |
0 |
0 |
0 |
4
|
ACTL9
|
3
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
3
|
AK9
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
3
|
3
|
C14orf39
|
3
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
3
|
CEP112
|
3
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
3
|
CFAP251
|
3
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
3
|
CFAP47
|
2
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
3
|
DNAH10
|
1
|
0 |
2
|
0 |
0 |
0 |
0 |
0 |
0 |
3
|
DNAH10, DNAH10OS
|
2
|
1
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
3
|
IFT74
|
1
|
0 |
2
|
0 |
0 |
0 |
0 |
0 |
0 |
3
|
KCNU1
|
3
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
3
|
LOC101927178, PPP2R3C
|
3
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
3
|
MOV10L1
|
3
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
3
|
SEPTIN12
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
3
|
2
|
3
|
SSX1
|
3
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
3
|
SYCP2
|
3
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
3
|
TEKT3
|
3
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
3
|
TERB1
|
3
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
3
|
USP26
|
3
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
3
|
intergenic
|
0 |
0 |
2
|
0 |
0 |
0 |
0 |
0 |
0 |
2
|
AK7
|
1
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
2
|
AKAP3
|
2
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
2
|
CCDC34
|
2
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
2
|
CCDC62
|
1
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
2
|
CFAP47, CXorf30
|
2
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
2
|
CFAP65, LOC100129175
|
1
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
2
|
CFAP91
|
1
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
2
|
CFTR
|
1
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
2
|
DNAH17, LOC126862653
|
1
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
2
|
DRC1
|
2
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
2
|
DZIP1
|
2
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
2
|
FBXO43
|
2
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
2
|
GGN
|
2
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
2
|
IQCN
|
2
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
2
|
NLRP14
|
0 |
0 |
0 |
0 |
2
|
0 |
0 |
0 |
0 |
2
|
SPINK2
|
1
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
2
|
TERB2
|
2
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
2
|
XRCC2
|
1
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
2
|
ZPBP
|
1
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
2
|
ZSWIM7
|
2
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
2
|
ACR
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
AK9, ZBTB24-DT
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
1
|
ANK2, LOC126807137
|
0 |
0 |
0 |
1
|
0 |
0 |
0 |
0 |
0 |
1
|
ANKRD36
|
0 |
0 |
0 |
0 |
1
|
0 |
0 |
0 |
0 |
1
|
BRDT
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
C2CD6
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
CATIP
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
CFAP251, LOC124849266
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
CFAP70
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
CFAP91, LOC129937328
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
CT55
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
DNAH17, LOC126862656
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
DNAH8, LOC126859667
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
DNALI1
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
DPY19L2, LOC130008194
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
FAHD1, MEIOB
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
1
|
FAM83F
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
HOXD13
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
KIF3B
|
0 |
0 |
0 |
0 |
0 |
1
|
0 |
0 |
0 |
1
|
LOC108281134, SOX3
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
LOC126861916, PPP2R3C, PRORP, PRORP-PSMA6
|
0 |
0 |
0 |
0 |
1
|
0 |
0 |
0 |
0 |
1
|
LOC130004821, NANOS1
|
1
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
0 |
1
|
LOC130004822, NANOS1
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
NANOS1
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
PDHA2
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
PSMD12
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
REDIC1
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
RNF212
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
RPL10L
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
SOHLH1
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
SPACA1
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
SPAG17
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
SYCE1
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
TAF4B
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
TBC1D25
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
TSGA10
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Submitter and significance breakdown #
Submitter |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
association |
likely pathogenic, low penetrance |
risk factor |
not provided |
total |
Invitae
|
75
|
30
|
855
|
854
|
160
|
0 |
0 |
0 |
0 |
1974
|
Fulgent Genetics, Fulgent Genetics
|
3
|
10
|
290
|
85
|
4
|
0 |
0 |
0 |
0 |
392
|
OMIM
|
311
|
0 |
0 |
0 |
0 |
0 |
0 |
3
|
10
|
324
|
Illumina Laboratory Services, Illumina
|
0 |
0 |
122
|
16
|
26
|
0 |
0 |
0 |
0 |
163
|
Baylor Genetics
|
3
|
5
|
39
|
0 |
0 |
0 |
0 |
0 |
0 |
47
|
Genome-Nilou Lab
|
0 |
0 |
0 |
0 |
43
|
0 |
0 |
0 |
0 |
43
|
Revvity Omics, Revvity Omics
|
2
|
4
|
20
|
0 |
0 |
0 |
0 |
0 |
0 |
26
|
Yatsenko Laboratory, Magee-Womens Research Institute, University of Pittsburgh
|
2
|
3
|
14
|
5
|
0 |
0 |
0 |
0 |
0 |
24
|
SIB Swiss Institute of Bioinformatics
|
3
|
10
|
6
|
0 |
0 |
0 |
0 |
0 |
0 |
19
|
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas
|
2
|
2
|
9
|
0 |
0 |
0 |
0 |
0 |
0 |
13
|
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics
|
3
|
2
|
6
|
0 |
0 |
0 |
0 |
0 |
0 |
11
|
Institute of Reproductive and Stem Cell Engineering, Central South University
|
7
|
4
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
11
|
MGZ Medical Genetics Center
|
0 |
2
|
4
|
0 |
0 |
0 |
0 |
0 |
0 |
6
|
Johns Hopkins Genomics, Johns Hopkins University
|
0 |
0 |
5
|
0 |
0 |
0 |
0 |
0 |
0 |
5
|
Molecular and Cell Genetics Laboratory, University of Science and Technology of China
|
5
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
5
|
Diagnostic Laboratory, Strasbourg University Hospital
|
4
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
4
|
Clinical Bioinformatic Lab, Royan Institute
|
2
|
1
|
0 |
0 |
0 |
1
|
0 |
0 |
0 |
4
|
Mendelics
|
2
|
0 |
0 |
0 |
1
|
0 |
0 |
0 |
0 |
3
|
Dept of Molecular Biology and Genetics, Bogazici University
|
1
|
0 |
0 |
1
|
1
|
0 |
0 |
0 |
0 |
3
|
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago
|
0 |
0 |
3
|
0 |
0 |
0 |
0 |
0 |
0 |
3
|
Reproductive Health Research and Development, BGI Genomics
|
1
|
0 |
1
|
1
|
0 |
0 |
0 |
0 |
0 |
3
|
New York Genome Center
|
0 |
0 |
3
|
0 |
0 |
0 |
0 |
0 |
0 |
3
|
Neuberg Supratech Reference Laboratories Pvt Ltd, Neuberg Centre for Genomic Medicine
|
0 |
1
|
2
|
0 |
0 |
0 |
0 |
0 |
0 |
3
|
GeneReviews
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
2
|
2
|
Reproductive Endocrinology and immunology College of Medicine, National Cheng Kung University
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
2
|
2
|
Biology Pathology Center, Lille University Hospital
|
1
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
2
|
Talkowski Laboratory, Center for Human Genetic Research, Massachusetts General Hospital
|
0 |
0 |
2
|
0 |
0 |
0 |
0 |
0 |
0 |
2
|
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne
|
2
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
2
|
Broad Institute Rare Disease Group, Broad Institute
|
0 |
0 |
0 |
0 |
2
|
0 |
0 |
0 |
0 |
2
|
Al Jalila Children's Genomics Center, Al Jalila Childrens Speciality Hospital
|
0 |
0 |
2
|
0 |
0 |
0 |
0 |
0 |
0 |
2
|
Institute of Human Genetics, University Hospital Muenster
|
1
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
2
|
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories
|
0 |
0 |
1
|
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 |
0 |
1
|
Clinical Genomics Laboratory, Washington University in St. Louis
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Laboratory of Molecular Oncology, N.N. Petrov Institute of Oncology
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Research lab, Institute of Genetics and Molecular and Cellular Biology
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Centre for Mendelian Genomics, University Medical Centre Ljubljana
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Hereditary Hearing Loss Research Unit, University of Madras
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Genetics of Infertility and Preimplantation Genetic Diagnosis, Centre Hospitalier Universitaire Grenoble Alpes
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Center for Genetics and Inherited Diseases, Taibah University
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
3billion
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
GenomeConnect - Invitae Patient Insights Network
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
1
|
Dept. of Cytogenetics, ICMR- National Institute of Immunohaematology
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
0 |
0 |
1
|
Eurofins-Biomnis
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Molecular Diagnostics, First Genomix Laboratory
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Clinical Cytology, Cytogenetics, Reproductive Biology and Human Development Laboratory, Cheikh Anta Diop University
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
1
|
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