ClinVar Miner

Variants studied for Male infertility

Coded as:
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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 total
43 38 55 1 0 137

Gene and significance breakdown #

Total genes and gene combinations: 56
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign total
AR 6 6 10 0 22
TEX11 9 0 0 0 9
NR5A1 0 5 3 0 8
TDRD12 0 5 2 0 7
GPAT2 0 3 3 0 6
FKBP6 2 3 0 0 5
AXDND1 0 0 4 0 4
CATSPER1 0 0 3 1 4
MOV10L1 0 1 3 0 4
SHOC1 4 0 0 0 4
TDRD9 0 2 2 0 4
DNAH10 0 0 3 0 3
NXT2 1 1 1 0 3
​intergenic 0 0 2 0 2
BPY2, BPY2B, BPY2C, CDY1, CDY2A, DAZ1, DAZ2, DAZ3, DAZ4, EIF1AY, FAM197Y10, HSFY1, HSFY2, KDM5D, PRORY, PRY, PRY2, RBMY1A1, RBMY1B, RBMY1D, RBMY1E, RBMY1F, RBMY1J, RPS4Y2, TTTY10, TTTY13, TTTY14, TTTY17A, TTTY17B, TTTY17C, TTTY3, TTTY3B, TTTY4, TTTY4B, TTTY4C, TTTY5, TTTY6, TTTY6B, TTTY9A, TTTY9B 2 0 0 0 2
BPY2, BPY2B, BPY2C, CDY1, DAZ1, DAZ2, DAZ3, DAZ4, PRY, TTTY17A, TTTY17B, TTTY17C, TTTY3, TTTY3B, TTTY4, TTTY4B, TTTY4C 2 0 0 0 2
CCDC40 0 0 2 0 2
DNAH11 0 0 2 0 2
GALNTL5 0 1 1 0 2
GPR84, GTSF1 1 1 0 0 2
MAEL 0 2 0 0 2
PIWIL2 0 0 2 0 2
PLD6 0 1 1 0 2
PNLDC1 0 1 1 0 2
ADCY10, DCAF6 0 0 1 0 1
AMELY 0 0 1 0 1
AR, LOC109504725 0 1 0 0 1
BPY2, BPY2B, BPY2C, CDY1, CDY2A, DAZ1, DAZ2, DAZ3, DAZ4, DDX3Y, EIF1AY, FAM197Y10, HSFY1, HSFY2, KDM5D, NLGN4Y, PRORY, PRY, PRY2, RBMY1A1, RBMY1B, RBMY1D, RBMY1E, RBMY1F, RBMY1J, RPS4Y2, TMSB4Y, TTTY10, TTTY13, TTTY14, TTTY15, TTTY17A, TTTY17B, TTTY17C, TTTY3, TTTY3B, TTTY4, TTTY4B, TTTY4C, TTTY5, TTTY6, TTTY6B, TTTY9A, TTTY9B, USP9Y, UTY, VCY, VCY1B 1 0 0 0 1
BPY2, BPY2B, BPY2C, CDY1, CDY2A, DAZ1, DAZ2, DAZ3, DAZ4, EIF1AY, FAM197Y10, HSFY1, HSFY2, KDM5D, NLGN4Y, PRORY, PRY, PRY2, RBMY1A1, RBMY1B, RBMY1D, RBMY1E, RBMY1F, RBMY1J, RPS4Y2, TMSB4Y, TTTY10, TTTY13, TTTY14, TTTY17A, TTTY17B, TTTY17C, TTTY3, TTTY3B, TTTY4, TTTY4B, TTTY4C, TTTY5, TTTY6, TTTY6B, TTTY9A, TTTY9B, UTY, VCY, VCY1B 1 0 0 0 1
BPY2, BPY2B, BPY2C, CDY1, DAZ1, DAZ2, DAZ3, DAZ4, EIF1AY, FAM197Y10, HSFY1, HSFY2, KDM5D, PRORY, PRY, PRY2, RBMY1A1, RBMY1B, RBMY1D, RBMY1E, RBMY1F, RBMY1J, RPS4Y2, TTTY10, TTTY13, TTTY14, TTTY17A, TTTY17B, TTTY17C, TTTY3, TTTY3B, TTTY4, TTTY4B, TTTY4C, TTTY5, TTTY6, TTTY6B, TTTY9A, TTTY9B 1 0 0 0 1
BPY2, BPY2B, BPY2C, CDY1, DAZ1, DAZ2, DAZ3, DAZ4, EIF1AY, FAM197Y10, KDM5D, PRORY, PRY, PRY2, RBMY1A1, RBMY1B, RBMY1D, RBMY1E, RBMY1F, RBMY1J, RPS4Y2, TTTY10, TTTY13, TTTY17A, TTTY17B, TTTY17C, TTTY3, TTTY3B, TTTY4, TTTY4B, TTTY4C, TTTY5, TTTY6, TTTY6B 1 0 0 0 1
BPY2, BPY2B, BPY2C, CDY1, DAZ1, DAZ2, DAZ3, DAZ4, PRY, PRY2, RBMY1D, RBMY1E, RBMY1F, RBMY1J, TTTY17A, TTTY17B, TTTY17C, TTTY3, TTTY3B, TTTY4, TTTY4B, TTTY4C, TTTY5, TTTY6, TTTY6B 1 0 0 0 1
BPY2, BPY2B, BPY2C, CDY1, DAZ1, DAZ2, DAZ3, DAZ4, TTTY17A, TTTY17B, TTTY17C, TTTY3, TTTY3B, TTTY4, TTTY4B, TTTY4C 1 0 0 0 1
C1orf146 0 1 0 0 1
CATSPER2, LOC130056949 0 0 1 0 1
CATSPERB 1 0 0 0 1
CDY2A, DDX3Y, EIF1AY, FAM197Y10, HSFY1, HSFY2, KDM5D, NLGN4Y, PRORY, RBMY1A1, RBMY1B, RBMY1D, RBMY1E, RPS4Y2, TMSB4Y, TTTY10, TTTY13, TTTY14, TTTY15, TTTY9A, TTTY9B, USP9Y, UTY, VCY, VCY1B 1 0 0 0 1
CFTR 1 0 0 0 1
CLDN2 1 0 0 0 1
DDX3Y, TTTY15, USP9Y 1 0 0 0 1
DDX4 0 0 1 0 1
DNAH10, LOC126861667 0 0 1 0 1
DNAH5 1 0 0 0 1
DNAI1 0 0 1 0 1
HENMT1 0 0 1 0 1
HORMAD1 1 0 0 0 1
KLK14 0 0 1 0 1
KLK4 0 0 1 0 1
M1AP 1 0 0 0 1
NXF3 0 1 0 0 1
PDCL2 1 0 0 0 1
PIWIL1 0 1 0 0 1
SOX30 0 1 0 0 1
SYCP3 0 0 1 0 1
TDRD1 0 1 0 0 1
USP26 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 11
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Submitter pathogenic likely pathogenic uncertain significance likely benign total
Institute of Reproductive Genetics, University of Münster 24 36 34 0 94
MAGI's Lab - Research, MAGI Group 2 0 15 0 17
Center for Advanced Diagnostics, Brigham and Women's Hospital 12 0 1 0 13
Illumina Laboratory Services, Illumina 0 0 3 1 4
Clinical Bioinformatic Lab, Royan Institute 3 0 0 0 3
Diagnostic Laboratory, Strasbourg University Hospital 0 1 0 0 1
Talkowski Laboratory, Center for Human Genetic Research, Massachusetts General Hospital 0 0 1 0 1
Hereditary Hearing Loss Research Unit, University of Madras 0 1 0 0 1
Academic Center for Education, Culture and Research, Motamed Cancer Institute 1 0 0 0 1
Laboratory of Medical Genetics (UMR_S 1112), INSERM/Strasbourg University 1 0 0 0 1
Unit of Andrology and Reproductive Medicine, University Hospital of Padua 0 0 1 0 1

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