Variants studied for spermatogenic failure

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

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	likely pathogenic, low penetrance	risk factor	not provided	total
446	99	1396	959	229	1	4	5	3103

Gene and significance breakdown #

Total genes and gene combinations: 128

Download table as spreadsheet

Gene or gene combination	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	likely pathogenic, low penetrance	risk factor	not provided	total
DNAH1	62	30	827	838	143	0	0	1	1890
FANCM	7	1	203	29	6	0	0	0	246
WDR19	2	7	75	31	1	0	0	0	116
NR5A1	30	9	40	20	17	0	0	0	114
CATSPER1	2	1	57	5	7	0	0	2	72
SPATA16	1	0	41	6	6	0	0	0	53
DNAH8	5	3	21	8	1	0	0	0	37
TEX15	6	5	17	5	0	0	0	0	33
AURKC	4	0	20	4	4	0	0	0	31
DNHD1	6	10	7	2	0	0	0	0	21
SPEF2	8	0	2	2	9	0	0	0	21
FSIP2	12	2	4	0	0	0	0	0	18
SYCP3	3	0	5	1	6	0	0	0	15
CFAP43	11	0	1	0	0	0	0	0	12
MSH4	7	0	0	0	5	0	0	0	12
PMFBP1	7	2	2	0	1	0	0	0	11
STAG3	5	0	0	0	6	0	0	0	11
DNAH17	6	3	1	1	0	0	0	0	10
DNAH2	6	1	3	0	0	0	0	0	10
DPY19L2	7	0	3	0	0	0	0	0	10
PIK3C2G, PLCZ1	8	1	1	0	0	0	0	0	10
CFAP69	4	0	0	0	5	0	0	0	9
QRICH2	4	0	1	0	3	0	0	0	8
SLC26A8	6	0	3	0	0	0	0	0	8
USP9Y	1	0	7	0	0	0	0	0	8
CFAP44, LOC127898559	4	2	1	0	0	0	0	0	7
CFAP61	7	0	0	0	0	0	0	0	7
FANCM, LOC130055524	0	0	5	2	0	0	0	0	7
KLHL10	4	0	3	1	1	0	0	0	7
M1AP	5	0	2	0	0	1	0	0	7
PNLDC1	6	1	0	0	0	0	0	0	7
SHOC1	7	0	0	0	0	0	0	0	7
TEX14	2	1	4	0	0	0	0	0	7
ACTL7A	5	1	0	0	0	0	0	0	6
CFAP58	5	1	0	0	0	0	0	0	6
CFAP65	3	0	3	0	0	0	0	0	6
CHPT1, SYCP3	0	0	2	1	3	0	0	0	6
DNAH10	1	0	5	0	0	0	0	0	6
DNAH3	2	4	0	0	0	0	0	0	6
KASH5	5	0	1	0	0	0	0	0	6
SUN5	6	2	0	0	0	0	0	0	6
TDRD9	1	1	4	0	0	0	0	0	6
TTC29	6	0	0	0	0	0	0	0	6
ARMC2	5	0	0	0	0	0	0	0	5
CCIN	5	0	0	0	0	0	0	0	5
CFAP251	5	0	0	0	0	0	0	0	5
FKBP6	5	0	0	0	0	0	0	0	5
MEIOB	5	0	0	0	0	0	0	0	5
SYCP2	3	2	0	0	0	0	0	0	5
TTC21A	5	0	0	0	0	0	0	0	5
ZMYND15	4	0	1	0	0	0	0	0	5
ACTL9	3	0	1	0	0	0	0	0	4
AK7	1	1	2	0	0	0	0	0	4
CFAP47	2	0	2	0	0	0	0	0	4
DRC1	2	2	0	0	0	0	0	0	4
GCNA	4	0	0	0	0	0	0	0	4
HFM1	4	0	0	0	0	0	0	0	4
LOC101927178, PPP2R3C	3	0	1	0	0	0	0	0	4
MSH5, MSH5-SAPCD1	3	0	0	0	1	0	0	0	4
SEPTIN12	0	0	2	0	0	0	3	2	4
STRC	1	1	1	1	0	0	0	0	4
TEX11	4	0	0	0	0	0	0	0	4
AK9	3	0	0	0	0	0	0	0	3
ARMC12	3	0	0	0	0	0	0	0	3
C14orf39	3	0	0	0	0	0	0	0	3
CEP112	3	0	0	0	0	0	0	0	3
DNAH10, DNAH10OS	2	1	1	0	0	0	0	0	3
IFT74	1	0	2	0	0	0	0	0	3
KCNU1	3	0	0	0	0	0	0	0	3
MOV10L1	3	0	0	0	0	0	0	0	3
SOHLH1	1	0	2	0	0	0	0	0	3
SSX1	3	0	0	0	0	0	0	0	3
TEKT3	3	0	0	0	0	0	0	0	3
TERB1	3	0	0	0	0	0	0	0	3
USP26	3	0	0	0	0	0	0	0	3
AKAP3	2	0	0	0	0	0	0	0	2
C2CD6	1	0	1	0	0	0	0	0	2
CCDC146	2	0	0	0	0	0	0	0	2
CCDC34	2	0	0	0	0	0	0	0	2
CCDC62	1	0	1	0	0	0	0	0	2
CFAP44, SPICE1-CFAP44	2	0	0	0	0	0	0	0	2
CFAP47, CXorf30	2	0	0	0	0	0	0	0	2
CFAP65, LOC100129175	1	0	1	0	0	0	0	0	2
CFAP91	1	1	0	0	0	0	0	0	2
CFTR	1	1	0	0	0	0	0	0	2
DNAH17, LOC126862653	1	0	1	0	0	0	0	0	2
DNAH8, LOC126859667	1	0	1	0	0	0	0	0	2
DNALI1	2	0	0	0	0	0	0	0	2
DZIP1	2	0	0	0	0	0	0	0	2
FBXO43	2	0	0	0	0	0	0	0	2
GGN	2	0	0	0	0	0	0	0	2
IQCN	2	1	0	0	0	0	0	0	2
LRRC23	2	0	0	0	0	0	0	0	2
NANOS1	1	0	1	0	0	0	0	0	2
NLRP14	0	0	0	0	2	0	0	0	2
SPINK2	1	0	1	0	0	0	0	0	2
TERB2	2	0	0	0	0	0	0	0	2
XRCC2	1	0	1	0	0	0	0	0	2
ZPBP	1	0	1	0	0	0	0	0	2
ZSWIM7	2	0	0	0	0	0	0	0	2
ACR	1	0	0	0	0	0	0	0	1
AK9, ZBTB24-DT	1	0	0	0	0	0	0	0	1
ANK2, LOC126807137	0	0	0	1	0	0	0	0	1
ANKRD36	0	0	0	0	1	0	0	0	1
BRDT	1	0	0	0	0	0	0	0	1
CATIP	1	0	0	0	0	0	0	0	1
CFAP251, LOC124849266	1	0	0	0	0	0	0	0	1
CFAP70	1	0	0	0	0	0	0	0	1
CFAP91, LOC129937328	1	0	0	0	0	0	0	0	1
CT55	1	0	0	0	0	0	0	0	1
CYLC1	0	0	0	0	0	0	1	0	1
DNAH17, LOC126862656	0	1	0	0	0	0	0	0	1
DPY19L2, LOC130008194	1	0	0	0	0	0	0	0	1
FAHD1, MEIOB	1	0	0	0	0	0	0	0	1
LOC126861916, PPP2R3C, PRORP, PRORP-PSMA6	0	0	0	0	1	0	0	0	1
LOC130004821, NANOS1	1	0	0	1	0	0	0	0	1
LOC130004822, NANOS1	1	0	0	0	0	0	0	0	1
PDHA2	1	0	0	0	0	0	0	0	1
PSMD12	0	0	1	0	0	0	0	0	1
REDIC1	1	0	0	0	0	0	0	0	1
RNF212	1	0	0	0	0	0	0	0	1
RPL10L	1	0	0	0	0	0	0	0	1
SPACA1	1	0	0	0	0	0	0	0	1
SPAG17	1	0	0	0	0	0	0	0	1
STK33	1	0	0	0	0	0	0	0	1
SYCE1	1	0	0	0	0	0	0	0	1
TAF4B	1	0	0	0	0	0	0	0	1
TSGA10	1	0	0	0	0	0	0	0	1

Submitter and significance breakdown #

Total submitters: 47

Download table as spreadsheet

Submitter	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	likely pathogenic, low penetrance	risk factor	not provided	total
Labcorp Genetics (formerly Invitae), Labcorp	79	30	855	854	160	0	0	0	1978
Fulgent Genetics, Fulgent Genetics	3	10	290	85	4	0	0	0	392
OMIM	335	0	0	0	0	0	4	0	339
Illumina Laboratory Services, Illumina	0	0	122	16	26	0	0	0	163
Baylor Genetics	3	5	39	0	0	0	0	0	47
Genome-Nilou Lab	0	0	0	0	43	0	0	0	43
Juno Genomics, Hangzhou Juno Genomics, Inc	10	6	24	0	0	0	0	0	40
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center	2	14	15	1	0	0	0	0	32
Revvity Omics, Revvity	2	4	20	0	0	0	0	0	26
Yatsenko Laboratory, Magee-Womens Research Institute, University of Pittsburgh	2	3	14	5	0	0	0	0	24
SIB Swiss Institute of Bioinformatics	3	11	6	0	0	0	0	0	20
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas	2	2	9	0	0	0	0	0	13
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics	4	2	5	0	0	0	0	0	11
Institute of Reproductive and Stem Cell Engineering, Central South University	7	4	0	0	0	0	0	0	11
MGZ Medical Genetics Center	0	2	4	0	0	0	0	0	6
Johns Hopkins Genomics, Johns Hopkins University	0	0	5	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	5
Neuberg Centre For Genomic Medicine, NCGM	0	2	3	0	0	0	0	0	5
Diagnostic Laboratory, Strasbourg University Hospital	4	0	0	0	0	0	0	0	4
Mendelics	2	0	0	0	1	0	0	0	3
Dept of Molecular Biology and Genetics, Bogazici University	1	0	0	1	1	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	3
Reproductive Health Research and Development, BGI Genomics	1	0	1	1	0	0	0	0	3
New York Genome Center	0	0	3	0	0	0	0	0	3
MVZ Medizinische Genetik Mainz	0	2	1	0	0	0	0	0	3
GeneReviews	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	2	2
Biology Pathology Center, Lille University Hospital	1	1	0	0	0	0	0	0	2
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne	2	0	0	0	0	0	0	0	2
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard	0	0	0	0	2	0	0	0	2
Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality Hospital	0	0	2	0	0	0	0	0	2
Institute of Human Genetics, University Hospital Muenster	1	1	0	0	0	0	0	0	2
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	0	0	1	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
Clinical Genomics Laboratory, Washington University in St. Louis	0	0	1	0	0	0	0	0	1
Laboratory of Molecular Oncology, N.N. Petrov Institute of Oncology	0	0	1	0	0	0	0	0	1
Research lab, Institute of Genetics and Molecular and Cellular Biology	1	0	0	0	0	0	0	0	1
Hereditary Hearing Loss Research Unit, University of Madras	0	0	1	0	0	0	0	0	1
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen	0	0	1	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	1
Clinical Bioinformatic Lab, Royan Institute	1	0	0	0	0	0	0	0	1
3billion	0	0	1	0	0	0	0	0	1
GenomeConnect - Invitae Patient Insights Network	0	0	0	0	0	0	0	1	1
Dept. of Cytogenetics, ICMR- National Institute of Immunohaematology	0	0	0	0	0	1	0	0	1
Eurofins-Biomnis	1	0	0	0	0	0	0	0	1
Molecular Diagnostics, First Genomix Laboratory	1	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	1

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.