Supplementary Table S6: Genes that could not be classified with the current method and available information.
OUD, Manon S., et al. A systematic review and standardized clinical validity assessment of male infertility genes. Human Reproduction, 2019, 34. Jg., Nr. 5, S. 932-941.
Publication: https://doi.org/10.1093/humrep/dez022
Description
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The publication A systematic review and standardized clinical validity assessment of male infertility genes by Manon S. Oud, Ludmila Volozonoka, Roos M. Smits, Lisenka E. L. M. Vissers, Liliana Ramos, Joris A. Veltman is published under an open access license: http://creativecommons.org/licenses/by/4.0/. Granted rights: Share - copy and redistribute the material in any medium or format and Adapt - remix, transform, and build upon the material for any purpose, even commercially.
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Table
| CHR | GENE | Synonyms | References(pmid) | Disorder | ReportedInheritance | InheritancePatternInHuman | Conclusion | Reason |
|---|---|---|---|---|---|---|---|---|
| 17q23.3 | ACE | 11870238 | Oligozoospermia and azoospermia | Not reported | Undetermined | Unable to classify | Mutation information incomplete or missing | |
| 9q31.3 | ACTL7A | 17644991 | Azoospermia and oligozoospermia | Not reported | Undetermined | Unable to classify | Mutation information incomplete or missing | |
| 9q31.3 | ACTL7B | TAKT1 | 17644991 | Azoospermia and oligozoospermia | Not reported | Undetermined | Unable to classify | Mutation information incomplete or missing |
| 14q24.2 | ADAM20 | 29416755 | Fertilization failure | AD | Undetermined | Unable to classify | Inheritance pattern unclear | |
| 9q31.3 | AKAP2 | 17273791 | Kallmann syndrome; hypogonadotropic hypogonadism; delayed puberty; cryptorchidism; small testes | AD | Undetermined | Unable to classify | Inheritance pattern unclear | |
| 10p15.1 | AKR1C2 | 24986825 | Hypospadias | Not reported | Undetermined | Unable to classify | Inheritance pattern unclear | |
| 10p15.1 | AKR1C3 | 24986825 | Hypospadias | Not reported | Undetermined | Unable to classify | Inheritance pattern unclear | |
| 10p15.1 | AKR1C4 | 24986825; 30496128 | Hypospadias | Not reported | Undetermined | Unable to classify | Inheritance pattern unclear | |
| 17p11.2 | ALKBH5 | 26820768 | Male infertility | Not reported | Undetermined | Unable to classify | Inheritance pattern unclear | |
| Yp11.2 | AMELY | 15726419 | Oligozoospermia | YL | YL | Unable to classify | Inheritance pattern incompatible with curation protocol | |
| 12p11.21 | AMN1 | 27502037 | Hypogonadotropic hypogonadism and Kallmann syndrome | AR | AR | Unable to classify | Inheritance pattern incompatible with curation protocol | |
| 4q21.1 | ART3 | 28718531 | Non-obstructive azoospermia | AD | Undetermined | Unable to classify | Inheritance pattern unclear | |
| Xp21.3 | ARX | 30496128 | 5α-reductase deficiency | XL | XL | Unable to classify | Inheritance pattern incompatible with curation protocol | |
| 1q32.3 | ATF3 | 18804813 | Hypospadias | Not reported | Undetermined | Unable to classify | Inheritance pattern unclear | |
| 11q13.2 | B4GAT1 | B3GNT1 | 30098700 | Hypogonadotropic hypogonadism | Not reported | Undetermined | Unable to classify | Inheritance pattern unclear |
| 9p21.1 | B4GALT1 | 2567120 | Fertilization failure | Not reported | Undetermined | Unable to classify | Mutation information incomplete or missing | |
| Xq22.2 | BEX3 | NGFRAP1 | 14531651 | Non-obstructive azoospermia | Not reported | Undetermined | Unable to classify | Mutation information incomplete or missing |
| 4q22.3 | BMPR1B | 29581481 | Azoospermia | AR | AD | Unable to classify | Inheritance pattern incompatible with curation protocol | |
| 21q22.2 | BRWD1 | 25739334 | Non-obstructive azoospermia | AR | AR | Unable to classify | Mutation information incomplete or missing | |
| 7q21.11 | CACNA2D1 | 24937803 | Azoospermia | AD | AD | Unable to classify | Inheritance pattern incompatible with curation protocol | |
| 11p15.2 | CALCA | 15636430 | Cryptorchidism | Not reported | Undetermined | Unable to classify | Inheritance pattern unclear | |
| 11p15.2 | CALCB | 15636430 | Cryptorchidism | Not reported | Undetermined | Unable to classify | Inheritance pattern unclear | |
| 5q22.1 | CAMK4 | 22897820 | Azoospermia | AD | Undetermined | Unable to classify | Inheritance pattern unclear | |
| 3q13.33-q21.1 | CASR | 30098700 | Hypogonadotropic hypogonadism | Not reported | Undetermined | Unable to classify | Inheritance pattern unclear | |
| 15q15.3 | CATSPER2 | 12825070; 17098888 | Asthenozoospermia with deafness | AR | AR | Unable to classify | Inheritance pattern incompatible with curation protocol | |
| 11p15.4 | CCKBR | 27502037 | Hypogonadotropic hypogonadism and Kallmann syndrome; undescended testes | AD | Undetermined | Unable to classify | Inheritance pattern unclear | |
| 13q13.3 | CCNA1 | 19886767 | Azoospermia and oligozoospermia | Not reported | Undetermined | Unable to classify | Inheritance pattern unclear | |
| 1p34.2 | CDC20 | 29245942 | Non-obstructive azoospermia | AD | Undetermined | Unable to classify | Inheritance pattern unclear | |
| Yq11.23 | CDY1 | 27203195 | Non-obstructive azoospermia | YL | YL | Unable to classify | Inheritance pattern incompatible with curation protocol | |
| 1p22.3 | CLCA4 | 23579007 | Azoospermia or oligoasthenozoospermia | AD | Undetermined | Unable to classify | Inheritance pattern unclear | |
| 1q32.1 | CNTN2 | 30098700 | Hypogonadotropic hypogonadism | AD | Undetermined | Unable to classify | Inheritance pattern unclear | |
| 17q21.33 | COL1A1 | 30478911 | Sertoli cell only syndrome | Not reported | Undetermined | Unable to classify | Inheritance pattern unclear | |
| 7q11.21 | CRCP | 15636430 | Cryptorchidism | Not reported | Undetermined | Unable to classify | Inheritance pattern unclear | |
| 16q21 | CSNK2A2 | 15746197;16400072 | Globozoospermia | Not reported | Undetermined | Unable to classify | Inheritance pattern unclear | |
| 6p21.33 | CSNK2B | 15746197 | Globozoospermia | Not reported | Undetermined | Unable to classify | Inheritance pattern unclear | |
| 2q22.1 | CXCR4 | 27502037 | Hypogonadotropic hypogonadism and Kallmann syndrome | Not reported | Undetermined | Unable to classify | Inheritance pattern unclear | |
| Yq11.223 | DAZ1 | 27203195; 11807882; 9239708 | Azoospermia | YL | YL | Unable to classify | Inheritance pattern incompatible with curation protocol | |
| Yq11.221 | DDX3Y | DBY | 10507722; 11420393; 27203195; 28801929 | Azoospermia | YL | YL | Unable to classify | Inheritance pattern incompatible with curation protocol |
| 10q21.1 | DKK1 | 25319845 | Hypospadias | Not reported | Undetermined | Unable to classify | Inheritance pattern unclear | |
| 7q21.3 | DLX5 | 30098700 | Hypogonadotropic hypogonadism | Not reported | Undetermined | Unable to classify | Inheritance pattern unclear | |
| 2p23.3 | DNMT3A | 23916795 | Oligozoospermia | AR | Undetermined | Unable to classify | Inheritance pattern unclear | |
| 8p21.2 | EBF2 | 16423815; 30098700 | Kallmann syndrome; hypogonadotropic hypogonadism | Not reported | Undetermined | Unable to classify | Inheritance pattern unclear | |
| 4q25 | EGF | 30098700 | Hypogonadotropic hypogonadism | Not reported | Undetermined | Unable to classify | Inheritance pattern unclear | |
| 7p11.2 | EGFR | 30098700 | Hypogonadotropic hypogonadism | Not reported | Undetermined | Unable to classify | Inheritance pattern unclear | |
| 13q22.3 | EDNRB | 30098700 | Hypogonadotropic hypogonadism | Not reported | Undetermined | Unable to classify | Inheritance pattern unclear | |
| 3q26.2 | EIF5A2 | 16169419 | Oligozoospermia and azoospermia | Not reported | Undetermined | Unable to classify | Inheritance pattern unclear | |
| 4q13.1-q13.2 | EPHA5 | 30098700 | Hypogonadotropic hypogonadism | Not reported | Undetermined | Unable to classify | Inheritance pattern unclear | |
| 20q13.12 | EPPIN | 27827323 | Male infertility | Not reported | Undetermined | Unable to classify | Inheritance pattern unclear | |
| 6q25.1-q25.2 | ESR1 | 16213843 | Oligozoospermia and azoospermia | Not reported | Undetermined | Unable to classify | Inheritance pattern unclear | |
| 14q23.2-q23.3 | ESR2 | 16213843; 19509112 | Oligozoospermia and azoospermia | Not reported | Undetermined | Unable to classify | Inheritance pattern unclear | |
| 3q27.2 | ETV5 | 22771031 | Non-obstructive azoospermia | Not reported | Undetermined | Unable to classify | Inheritance pattern unclear | |
| 8q24.11 | EXT1 | 14556251 | Oligozoospermia | AD | AD | Unable to classify | Inheritance pattern unclear | |
| 11q24.2 | FEZ1 | 30098700 | Hypogonadotropic hypogonadism | Not reported | Undetermined | Unable to classify | Inheritance pattern unclear | |
| 5p12 | FGF10 | 17264867 | Hypospadias | Not reported | Undetermined | Unable to classify | Inheritance pattern unclear | |
| 5q35.1 | FGF18 | 23643382 | Kallmann syndrome | Not reported | Undetermined | Unable to classify | Inheritance pattern unclear | |
| 13q12.11 | FGF9 | 23380608; 26260363 | 46;XX Disorders of sex development | AD | AD | Unable to classify | Quality variant calling insufficient | |
| 12p13.33 | FKBP4 | FKBP52 | 17343741 | Hypospadias | Not reported | Undetermined | Unable to classify | Inheritance pattern unclear |
| 20p12.1 | FLRT3 | 23643382; 25636053 | Kallmann syndrome | Not reported | Undetermined | Unable to classify | Inheritance pattern incompatible with curation protocol | |
| 3q13.31 | GAP43 | 27502037 | Kallmann syndrome | Not reported | Undetermined | Unable to classify | Inheritance pattern incompatible with curation protocol | |
| 5p13.1-p12 | GHR | 30098700 | Hypogonadotropic hypogonadism | Not reported | Undetermined | Unable to classify | Inheritance pattern unclear | |
| 6q22.31 | GJA1 | 17103436 | Oligozoospermia in combination with Blepharophimosis; corneal vascularization; deafness; and acroosteolysis | Not reported | Undetermined | Unable to classify | Inheritance pattern unclear | |
| 13q12.11 | GJB6 | 17103436 | Oligozoospermia in combination with Blepharophimosis; corneal vascularization; deafness; and acroosteolysis | Not reported | Undetermined | Unable to classify | Inheritance pattern unclear | |
| 19p13.3 | GPX4 | 12606444; 16872467 | Oligoasthenozoospermia | AD | Undetermined | Unable to classify | Inheritance pattern unclear | |
| 11p15.5 | H19 | 30478911 | Sertoli cell only syndrome | Not reported | Undetermined | Unable to classify | Inheritance pattern unclear | |
| 11q23.3 | H2AFX | 18536151 | Spermatogenic failure | Not reported | Undetermined | Unable to classify | Inheritance pattern unclear | |
| 17p13.2 | HASPIN | 17644991 | Male infertility | Not reported | Undetermined | Unable to classify | Inheritance pattern unclear | |
| 7q21.11 | HGF | 30098700 | Hypogonadotropic hypogonadism | Not reported | Undetermined | Unable to classify | Inheritance pattern unclear | |
| 4q34.1 | HMGB2 | 19369647 | Testicular failure | Not reported | Undetermined | Unable to classify | Inheritance pattern unclear | |
| 7p15.2 | HOXA10 | 10037424; 14960020; 17216618; 27108669 | Cryptorchidism | AR/AD | Undetermined | Unable to classify | Inheritance pattern unclear | |
| 7p15.2 | HOXA11 | 17216618 | Cryptorchidism | Not reported | Undetermined | Unable to classify | Inheritance pattern unclear | |
| 7p15.2 | HOXA4 | 17003840 | Cryptorchidism | AD | Undetermined | Unable to classify | Inheritance pattern unclear | |
| 7p15.2 | HOXA9 | 17216618 | Cryptorchidism | Not reported | Undetermined | Unable to classify | Inheritance pattern unclear | |
| 17q21.32 | HOXB6 | 17003840; 25605705 | Hypospadias | AD | Undetermined | Unable to classify | Inheritance pattern incompatible with curation protocol | |
| 17q21.32 | HOXB9 | 17216618 | Cryptorchidism | Not reported | Undetermined | Unable to classify | Inheritance pattern unclear | |
| 12q13.13 | HOXC10 | 17216618 | Cryptorchidism | AD | Undetermined | Unable to classify | Inheritance pattern unclear | |
| 12q13.13 | HOXC11 | 17216618 | Cryptorchidism | AD | Undetermined | Unable to classify | Inheritance pattern unclear | |
| 12q13.13 | HOXC12 | 17216618 | Cryptorchidism | AD | Undetermined | Unable to classify | Inheritance pattern unclear | |
| 12q13.13 | HOXC13 | 17216618 | Cryptorchidism | AD | Undetermined | Unable to classify | Inheritance pattern unclear | |
| 12q13.13 | HOXC9 | 17216618 | Cryptorchidism | AD | Undetermined | Unable to classify | Inheritance pattern unclear | |
| 2q31.1 | HOXD9 | 17216618; 30478911 | Cryptorchidism | AD | Undetermined | Unable to classify | Inheritance pattern unclear | |
| 2q31.1 | HOXD10 | 17216618 | Cryptorchidism | AD | Undetermined | Unable to classify | Inheritance pattern unclear | |
| 2q31.1 | HOXD11 | 17216618 | Cryptorchidism | AD | Undetermined | Unable to classify | Inheritance pattern unclear | |
| 2q31.1 | HOXD12 | 17216618 | Cryptorchidism | AD | Undetermined | Unable to classify | Inheritance pattern unclear | |
| 2q31.1 | HOXD13 | 17216618; 17656229 | Cryptorchidism | AD | Undetermined | Unable to classify | Inheritance pattern unclear | |
| Yq11.222 | HSFY1 | 15044259; 15734897 | Azoospermia | YL | YL | Unable to classify | Inheritance pattern incompatible with curation protocol | |
| 14q32.31 | HSP90AA1 | 15992426 | Varicocele | Not reported | Undetermined | Unable to classify | Inheritance pattern unclear | |
| 12q23.2 | IGF1 | 30098700 | Hypogonadotropic hypogonadism | Not reported | Undetermined | Unable to classify | Inheritance pattern unclear | |
| 3q25.1 | IGSF10 | 27137492 | Delayed puberty | AD | Undetermined | Unable to classify | Inheritance pattern unclear | |
| 10p15.2 | KLF6 | 24986825 | Hypospadias | AD | Undetermined | Unable to classify | Inheritance pattern unclear | |
| 19q13.41 | KLK12 | 27827323 | Male infertility | Not reported | Undetermined | Unable to classify | Inheritance pattern unclear | |
| 19q13.33 | KLK15 | 27827323 | Male infertility | Not reported | Undetermined | Unable to classify | Inheritance pattern unclear | |
| 19q13.33 | KLK3 | 27827323 | Male infertility | Not reported | Undetermined | Unable to classify | Inheritance pattern unclear | |
| 19q13.3 | KLK6 | 27827323 | Male infertility | Not reported | Undetermined | Unable to classify | Inheritance pattern unclear | |
| 19q13.33 | KLK7 | 27827323 | Male infertility | Not reported | Undetermined | Unable to classify | Inheritance pattern unclear | |
| 11p15.5-p15.4 | KCNQ1 | 30478911 | Sertoli cell only syndrome | Not reported | Undetermined | Unable to classify | Inheritance pattern unclear | |
| 1p31.3 | LEPR | 25064402; 26031747; 30098700 | Hypogonadotropic hypogonadism | Not reported | Undetermined | Unable to classify | Inheritance pattern unclear | |
| 22q12.2 | LIF | 30098700 | Hypogonadotropic hypogonadism | Not reported | Undetermined | Unable to classify | Inheritance pattern unclear | |
| 7q22.1 | LRWD1 | 23445371 | Sertoli cell only syndrome | Not reported | Undetermined | Unable to classify | Inheritance pattern unclear | |
| 4q31.22 | LSM6 | 18042180 | Azoospermia | AD | AD | Unable to classify | Inheritance pattern incompatible with curation protocol | |
| 10p12.1 | MASTL | 27502037 | Hypogonadotropic Hypogonadism | AD | AR | Unable to classify | Inheritance pattern incompatible with curation protocol | |
| 20p12.3 | MCM8 | 25873734 | Azoospermia | AR | AR | Unable to classify | Inheritance pattern unclear | |
| 5q11.2 | MIER3 | 21129722 | 46;XY Disorders of Sex Development | Not reported | Undetermined | Unable to classify | Inheritance pattern incompatible with curation protocol | |
| 14q24.3 | MLH3 | 17482610 | Meiotic arrest | AR | Undetermined | Unable to classify | Inheritance pattern unclear | |
| mitochondria | MT-ATP6 | 10643508; 11380706; 12721215; 17218641; 22614272; 23645088; 27695613 | Varicocele/OAT | NA | NA | Unable to classify | Inheritance pattern incompatible with curation protocol | |
| mitochondria | MT-ATP8 | 12721215; 23645088; 27695613 | Varicocele/OAT | NA | NA | Unable to classify | Inheritance pattern incompatible with curation protocol | |
| mitochondria | MT-CO1 | MT-COX1 | 12721215; 17218641; 23030649; 23645088; 23712756 | Asthenozoospermia | NA | NA | Unable to classify | Inheritance pattern incompatible with curation protocol |
| mitochondria | MT-CO2 | MT-COX2 | 11380706; 12721215; 23645088; 24931671; 27695613 | Asthenozoospermia | NA | NA | Unable to classify | Inheritance pattern incompatible with curation protocol |
| mitochondria | MT-CO3 | MT-COX3 | 11380706; 23645088; 24550096; 27695613 | Varicocele/OAT | NA | NA | Unable to classify | Inheritance pattern incompatible with curation protocol |
| mitochondria | MT-CYB | 17218641; 22614272; 23645088 | Asthenozoospermia | NA | NA | Unable to classify | Inheritance pattern incompatible with curation protocol | |
| 1p36.22 | MTHFR | 25739334 | Azoospermia | AD | Undetermined | Unable to classify | Inheritance pattern unclear | |
| mitochondria | MT-ND1 | 22614272 | Male infertility | NA | NA | Unable to classify | Inheritance pattern incompatible with curation protocol | |
| mitochondria | MT-ND2 | 17218641 | OAT | NA | NA | Unable to classify | Inheritance pattern incompatible with curation protocol | |
| mitochondria | MT-ND3 | 12721215; 17218641; 27695613 | Varicocele/OAT | NA | NA | Unable to classify | Inheritance pattern incompatible with curation protocol | |
| mitochondria | MT-ND4 | 11380706; 17069814; 17218641; 27973917 | Asthenozoospermia | NA | NA | Unable to classify | Inheritance pattern incompatible with curation protocol | |
| mitochondria | MT-ND4L | 27695613 | Varicocele | NA | NA | Unable to classify | Inheritance pattern incompatible with curation protocol | |
| mitochondria | MT-ND5 | 11380706; 17218641 | OAT | NA | NA | Unable to classify | Inheritance pattern incompatible with curation protocol | |
| mitochondria | MT-RNR1 | 17218641 | Asthenozoospermia and teratozoospermia | NA | NA | Unable to classify | Inheritance pattern incompatible with curation protocol | |
| mitochondria | MT-RNR2 | 17218641 | Asthenozoospermia and teratozoospermia | NA | NA | Unable to classify | Inheritance pattern incompatible with curation protocol | |
| mitochondria | MT-TG | 27695613 | Varicocele | NA | NA | Unable to classify | Inheritance pattern incompatible with curation protocol | |
| mitochondria | MT-TH | 24931671 | Asthenozoospermia | NA | NA | Unable to classify | Inheritance pattern incompatible with curation protocol | |
| mitochondria | MT-TK | 12721215; 27695613 | OAT | NA | NA | Unable to classify | Inheritance pattern incompatible with curation protocol | |
| mitochondria | MT-TL1 | 12149402; 27973917 | Asthenozoospermia | NA | NA | Unable to classify | Inheritance pattern incompatible with curation protocol | |
| mitochondria | MT-TR | 27695613 | Varicocele | NA | NA | Unable to classify | Inheritance pattern incompatible with curation protocol | |
| mitochondria | MT-TS1 | 12721215 | OAT | NA | NA | Unable to classify | Inheritance pattern incompatible with curation protocol | |
| 10q26.11 | NANOS1 | 23315541 | OAT | AD | Undetermined | Unable to classify | Inheritance pattern unclear | |
| 19p13.13 | NANOS3 | 19565640 | Azoospermia and oligozoospermia | Not reported | Undetermined | Unable to classify | Inheritance pattern unclear | |
| 19q13.32 | NECTIN2 | PVRL2 | 28689229 | Teratozoospermia | AD | Undetermined | Unable to classify | Inheritance pattern unclear |
| 3q13.13 | NECTIN3 | PVRL3 | 28689229 | Teratozoospermia | AD | Undetermined | Unable to classify | Inheritance pattern unclear |
| 1p12 | NOTCH2 | 25820398 | Persistent mullerian duct syndrome | AD | AD | Unable to classify | Inheritance pattern incompatible with curation protocol | |
| 4q32.2 | NPY1R | 17140570 | Hypogonadotropic hypogonadism | Not reported | Undetermined | Unable to classify | Inheritance pattern unclear | |
| 10p11.22 | NRP1 | 30098700 | Hypogonadotropic hypogonadism | Not reported | AD | Unable to classify | Inheritance pattern incompatible with curation protocol | |
| 2q33.3 | NRP2 | 30098700 | Hypogonadotropic hypogonadism | Not reported | Undetermined | Unable to classify | Inheritance pattern unclear | |
| 4p14 | NSUN7 | 24384068; 25702163 | Asthenozoospermia | Not reported | AR | Unable to classify | Quality variant calling insufficient | |
| 17p13.1 | NTN1 | 29202173 | Kallmann syndrome; with or without anosmia | AD | Undetermined | Unable to classify | Inheritance pattern incompatible with curation protocol | |
| 8q22.3 | ODF1 | 8111388 | Male infertility | AR | Undetermined | Unable to classify | Inheritance pattern unclear | |
| 1p34.2 | OXCT2 | SCOTT | 17644991 | Male infertility | Not reported | Undetermined | Unable to classify | Inheritance pattern unclear |
| 7p22.1 | PAPOLB | 17644991 | Male infertility | Not reported | AR | Unable to classify | Mutation information incomplete or missing | |
| 11p13 | PAX6 | 30098700 | Hypogonadotropic hypogonadism | Not reported | AD | Unable to classify | Inheritance pattern incompatible with curation protocol | |
| 4q28.3 | PCDH10 | 18042180 | Azoospermia | AD | Undetermined | Unable to classify | Inheritance pattern incompatible with curation protocol | |
| Xq21.1 | PGAM4 | 23631659 | Non-obstructive azoospermia | Not reported | Undetermined | Unable to classify | Inheritance pattern unclear | |
| 19p13 | PIN1 | 23096908 | Hypogonadotropic hypogonadism | AD | Undetermined | Unable to classify | Inheritance pattern unclear | |
| 12q24.33 | PIWIL1 | 28552346 | Azoospermia | AD | Undetermined | Unable to classify | Quality variant calling insufficient | |
| 3p21.31 | PLXNB1 | 30098700 | Hypogonadotropic hypogonadism | Not reported | Undetermined | Unable to classify | Inheritance pattern unclear | |
| 3p11.2 | POU1F1 | 25064402 | Hypogonadotropic hypogonadism | Not reported | Undetermined | Unable to classify | Inheritance pattern unclear | |
| 17q24.2 | PRKAR1A | 16728532 | Carney complex with oligoteratozoospermia or azoospermia | AD | AD | Unable to classify | Mutation information incomplete or missing | |
| 16p13.13 | PRM1 | 10464636; 12569175; 16199539; 16989827; 17494104; 17644991; 18309899; 19602509; 19863670; 21425891; 22104739 | Oligozoospermia or azoospermia | Not reported | Undetermined | Unable to classify | Inheritance pattern unclear | |
| 16p13.13 | PRM2 | 10464636; 12569175; 16989827; 17644991; 18309899; 19602509; 19863670; 21425891; 22104739 | Oligozoospermia or azoospermia | Not reported | Undetermined | Unable to classify | Inheritance pattern unclear | |
| 7q33 | PTN | 18661284 | Hypospadias | AD | Undetermined | Unable to classify | Inheritance pattern unclear | |
| 20p13 | RAD21L1 | 28635411 | Sertoli cell only and meiotic arrest | Not reported | Undetermined | Unable to classify | Inheritance pattern unclear | |
| Yq11.223 | RBMY1A1 | YRRM1 | 27203195; 11807882; 9781447 | Azoospermia | YL | YL | Unable to classify | Inheritance pattern incompatible with curation protocol |
| Xq24 | RHOXF2 | 25780578; 28171660 | Severe oligozoospermia | XL | XL | Unable to classify | Quality variant calling insufficient | |
| Xq24 | RHOXF2B | 25780578; 28171660 | Severe oligozoospermia | XL | XL | Unable to classify | Quality variant calling insufficient | |
| 13q12.12 | RNF17 | 25739334 | Non-obstructive azoospermia | Not reported | Undetermined | Unable to classify | Inheritance pattern unclear | |
| 11q24.2 | ROBO3 | 30098700 | Hypogonadotropic Hypogonadism | Not reported | AR | Unable to classify | Inheritance pattern incompatible with curation protocol | |
| 22q13.33 | SBF1 | 19369647 | Testicular failure | AD | Undetermined | Unable to classify | Inheritance pattern unclear | |
| 7q21.11 | SEMA3E | 25985275 | Kallmann syndrome | AD | Undetermined | Unable to classify | Inheritance pattern incompatible with curation protocol | |
| 9q22.2 | SEMA4D | 30098700 | Hypogonadotropic Hypogonadism | Not reported | Undetermined | Unable to classify | Inheritance pattern unclear | |
| 15q24.1 | SEMA7A | 24522099; 30098700 | Hypogonadotropic Hypogonadism | AD | Undetermined | Unable to classify | Inheritance pattern incompatible with curation protocol | |
| 16p13.3 | SEPT12 | 21636737; 22116646; 30488758 | Non-obstructive azoospermia | AD | Undetermined | Unable to classify | Inheritance pattern unclear | |
| 16p13.3 | SEPT12 | 22275165; 22479503; 30513371 | Oligoasthenoteratozoospermia | AD | Undetermined | Unable to classify | Inheritance pattern unclear | |
| 4q31.22 | SLC10A7 | 18042180 | Hypogonadotropic hypogonadism | AD | Undetermined | Unable to classify | Inheritance pattern incompatible with curation protocol | |
| 5q31.3 | SPRY4 | 23643382; 25636053; 28833369 | Hypogonadotropic hypogonadism | AD | Undetermined | Unable to classify | Inheritance pattern unclear | |
| 15q15.3 | STRC | 17098888 | Asthenozoospermia with deafness | AR | AR | Unable to classify | Inheritance pattern incompatible with curation protocol | |
| Xp22.31 | STS | 30098700 | Hypogonadotropic hypogonadism | XL | XL | Unable to classify | Inheritance pattern incompatible with curation protocol | |
| 9q21.31 | TLE4 | 30098700 | Hypogonadotropic hypogonadism | Not reported | AD | Unable to classify | Inheritance pattern incompatible with curation protocol | |
| 12p11.21 | TSPAN11 | 27502037 | Hypogonadotropic hypogonadism and Kallmann syndrome | AD | Undetermined | Unable to classify | Inheritance pattern unclear | |
| Yp11.2 | TSPY1 | 22286816 | Male infertility | YL | YL | Unable to classify | Inheritance pattern incompatible with curation protocol | |
| 6q22.1 | TSPYL1 | 19463995; 22137496; 28847364 | Azoospermia/Disorder of Sex Development | AD | Undetermined | Unable to classify | Inheritance pattern unclear | |
| 8q22.1 | TSPYL5 | 28847364 | Azoospermia | AD | Undetermined | Unable to classify | Inheritance pattern unclear | |
| 5q22.2 | TSSK1B | 17644991 | Male infertility | Not reported | Undetermined | Unable to classify | Inheritance pattern unclear | |
| 22q11.21 | TSSK2 | 17644991; 19926886 | Male infertility | Not reported | Undetermined | Unable to classify | Inheritance pattern unclear | |
| 14q12 | TSSK4 | 18390560 | Azoospermia and oligozoospermia | AD | Undetermined | Unable to classify | Inheritance pattern unclear | |
| Yq11.221 | USP9Y | 10581029; 11420393; 16893908; 19246359; 25808090 | Azoospermia | YL | YL | Unable to classify | Inheritance pattern incompatible with curation protocol | |
| 17p13.1 | YBX2 | 18339382; 18372033 | Azoospermia and oligozoospermia | AD | Undetermined | Unable to classify | Inheritance pattern unclear | |
| 11p15.4 | ZNF214 | 12970396 | Azoospermia and severe oligozoospermia | Not reported | Undetermined | Unable to classify | Inheritance pattern unclear | |
| 11p15.4 | ZNF215 | 12970396 | Azoospermia and severe oligozoospermia | Not reported | Undetermined | Unable to classify | Inheritance pattern unclear |