Institute of Human Genetics (Cologne University)
General information
Institute of Human Genetics
Cologne University
Kerpener Str. 34
Cologne
Nordrhein-Westfalen
Germany - 50931
http://humangenetik.uk-koeln.de/
Organization ID: 243629
Cologne University
Kerpener Str. 34
Cologne
Nordrhein-Westfalen
Germany - 50931
http://humangenetik.uk-koeln.de/
Organization ID: 243629
Personnel
- Christian Netzer, Lab Director
Phone: 004922147886811
Email: christian.netzer@uk-koeln.de
Assertion criteria
Level: Assertion criteria provided
Summary of submissions to ClinVar
Total submissions: 497
Gene
| Gene | Submissions | Last Updated |
|---|---|---|
| AARS1 | 4 | Jan 3, 2022 |
| ACTA1 | 1 | May 11, 2018 |
| ACTA2 | 2 | Dec 17, 2021 |
| ACTN4 | 1 | Jun 6, 2017 |
| ADAR | 1 | Sep 23, 2019 |
| ADNP | 1 | Nov 21, 2019 |
| ADPRS | 1 | Oct 2, 2020 |
| AEBP1 | 1 | Dec 17, 2021 |
| AFF2 | 1 | Dec 15, 2021 |
| AGPAT2 | 1 | Jul 16, 2019 |
| AGTPBP1 | 2 | Oct 2, 2020 |
| AGXT | 1 | Apr 26, 2022 |
| ALG1 | 1 | Mar 5, 2021 |
| ANLN | 1 | Sep 4, 2020 |
| AQP2 | 1 | Jun 8, 2017 |
| AQP5-AS1 | 1 | Jun 8, 2017 |
| ARHGEF10 | 2 | Nov 28, 2018 |
| ARHGEF9 | 1 | Dec 29, 2020 |
| ARID1B | 5 | Sep 20, 2021 |
| ARSA | 1 | Oct 2, 2020 |
| ARX | 1 | Dec 17, 2021 |
| ASXL3 | 1 | Sep 15, 2023 |
| ATAD3A | 1 | Dec 5, 2023 |
| ATOH7 | 1 | May 22, 2023 |
| ATP7A | 1 | May 11, 2018 |
| AUTS2 | 1 | Jan 10, 2024 |
| AVPR2 | 1 | Oct 24, 2016 |
| B4GAT1 | 1 | Dec 5, 2023 |
| BBS10 | 1 | Aug 19, 2019 |
| BCL11A | 1 | Mar 30, 2020 |
| BCOR | 1 | Dec 17, 2021 |
| BICD2 | 1 | May 11, 2018 |
| BMPR2 | 2 | Dec 17, 2021 |
| C1GALT1C1 | 1 | Apr 1, 2022 |
| C3 | 1 | Mar 5, 2021 |
| CACNA1H | 1 | Sep 20, 2021 |
| CAPN3 | 1 | Oct 18, 2017 |
| CASR | 5 | Dec 17, 2021 |
| CDK5RAP2 | 1 | Jan 30, 2023 |
| CFH | 4 | Jan 10, 2024 |
| CFTR | 2 | Oct 23, 2020 |
| CFTR-AS1 | 1 | Aug 30, 2018 |
| CHD1L | 1 | Apr 11, 2019 |
| CHD4 | 1 | Sep 4, 2020 |
| CHD7 | 5 | Dec 17, 2021 |
| CHD8 | 1 | Dec 17, 2021 |
| CHKB | 1 | Dec 17, 2021 |
| CHKB-CPT1B | 1 | Dec 17, 2021 |
| CHRNG | 1 | Jan 19, 2018 |
| CHST3 | 1 | Oct 5, 2023 |
| CLCN1 | 1 | May 11, 2018 |
| COL11A2 | 1 | Sep 28, 2020 |
| COL12A1 | 2 | May 11, 2018 |
| COL1A1 | 12 | Apr 18, 2023 |
| COL1A2 | 9 | Jan 10, 2024 |
| COL2A1 | 3 | Sep 15, 2023 |
| COL3A1 | 2 | Sep 28, 2017 |
| COL4A3 | 5 | Apr 25, 2022 |
| COL4A4 | 9 | Aug 8, 2022 |
| COL4A5 | 15 | Jan 10, 2024 |
| COL5A1 | 2 | Aug 8, 2022 |
| COL5A2 | 1 | Apr 2, 2020 |
| COL6A1 | 1 | May 11, 2018 |
| COL6A2 | 1 | May 11, 2018 |
| COL6A3 | 1 | May 11, 2018 |
| COL9A3 | 1 | Apr 6, 2021 |
| CRTAP | 1 | Aug 2, 2017 |
| CTNS | 3 | Mar 24, 2020 |
| CTNS-AS1 | 1 | Mar 7, 2018 |
| CYP24A1 | 1 | Nov 14, 2019 |
| DHDDS | 1 | Dec 5, 2023 |
| DHTKD1 | 2 | May 11, 2018 |
| DLG4 | 1 | Dec 17, 2021 |
| DNAAF3 | 1 | Dec 5, 2023 |
| DNAAF3-AS1 | 1 | Dec 5, 2023 |
| DNAI2 | 1 | Apr 18, 2023 |
| DNAJB11 | 2 | May 19, 2021 |
| DNM1L | 1 | Oct 2, 2020 |
| DNMT3A | 1 | May 22, 2019 |
| DOK7 | 1 | Dec 17, 2021 |
| DSG1 | 2 | Apr 25, 2022 |
| DSG1-AS1 | 2 | Apr 25, 2022 |
| DYRK1A | 1 | Jan 30, 2023 |
| EBP | 1 | Apr 18, 2023 |
| ECEL1 | 2 | Dec 4, 2018 |
| ECHS1 | 1 | Oct 2, 2020 |
| EEF2KMT | 1 | Mar 5, 2021 |
| EFTUD2 | 2 | Apr 25, 2022 |
| EGR2 | 1 | Oct 2, 2020 |
| ENO3 | 1 | Jan 10, 2024 |
| ERCC6 | 1 | Dec 11, 2018 |
| ETFDH | 1 | May 11, 2018 |
| EXOSC3 | 1 | Oct 2, 2020 |
| EXT2 | 1 | Aug 8, 2022 |
| EYA1 | 1 | Feb 14, 2020 |
| EZH2 | 1 | Jul 16, 2019 |
| FANCA | 3 | Jul 3, 2023 |
| FARS2 | 1 | Dec 17, 2021 |
| FAT1 | 1 | Sep 26, 2019 |
| FBLN5 | 1 | May 11, 2018 |
| FBN1 | 14 | Jan 10, 2024 |
| FBXO11 | 1 | Dec 17, 2021 |
| FBXO38 | 1 | May 11, 2018 |
| FDXR | 1 | Oct 2, 2020 |
| FH | 1 | Mar 9, 2020 |
| FKBP10 | 1 | May 21, 2019 |
| FKRP | 1 | Dec 29, 2017 |
| FLCN | 2 | Feb 26, 2024 |
| FUS | 2 | May 11, 2018 |
| FXN | 1 | May 11, 2018 |
| GAN | 1 | May 11, 2018 |
| GARS1 | 3 | Dec 17, 2021 |
| GBF1 | 4 | Aug 11, 2020 |
| GDAP1 | 3 | May 11, 2018 |
| GLS | 1 | Feb 26, 2024 |
| GNA11 | 1 | Dec 5, 2019 |
| GNAS | 1 | Mar 13, 2024 |
| GNPTAB | 1 | Dec 6, 2018 |
| GPR143 | 1 | Feb 26, 2024 |
| GREB1L | 1 | Dec 17, 2021 |
| GRHPR | 1 | Dec 19, 2018 |
| GRIN2A | 1 | Apr 18, 2023 |
| HINT1 | 1 | May 11, 2018 |
| HIVEP2 | 1 | Aug 8, 2022 |
| HNF1B | 2 | Jul 15, 2019 |
| HNF4A | 1 | Sep 4, 2017 |
| HNRNPK | 1 | May 12, 2021 |
| HPRT1 | 1 | Aug 8, 2022 |
| HSPB1 | 1 | May 11, 2018 |
| HSPD1 | 1 | May 22, 2019 |
| IFIH1 | 1 | Sep 23, 2019 |
| IFT140 | 1 | Dec 17, 2021 |
| IGHMBP2 | 4 | May 11, 2018 |
| INPPL1 | 1 | Nov 28, 2018 |
| IPO8 | 1 | Dec 5, 2023 |
| JAG1 | 2 | Jan 30, 2023 |
| KCNH1 | 1 | Sep 4, 2019 |
| KCNT2 | 1 | Jul 12, 2021 |
| KIF1B | 1 | May 11, 2018 |
| KIF26A | 1 | Jan 10, 2024 |
| KIF5C | 2 | Jul 30, 2019 |
| KMT2D | 3 | May 11, 2018 |
| KMT2E | 18 | May 11, 2021 |
| LAMA1 | 1 | Dec 17, 2021 |
| LAMB2 | 1 | Jun 30, 2017 |
| LDLR | 1 | Dec 17, 2021 |
| LGI4 | 2 | May 11, 2018 |
| LIFR | 2 | Feb 1, 2021 |
| LMX1B | 4 | Dec 5, 2019 |
| LOC100507346 | 1 | Dec 17, 2021 |
| LOC101927521 | 1 | Dec 17, 2021 |
| LOC107032760 | 1 | Aug 8, 2022 |
| LOC107303340 | 1 | Mar 5, 2021 |
| LOC107982234 | 1 | Jun 8, 2017 |
| LOC126807255 | 1 | Sep 26, 2019 |
| LOC126862124 | 1 | Sep 24, 2019 |
| LOC126862260 | 1 | Dec 17, 2021 |
| LOC126862586 | 1 | Dec 5, 2019 |
| LOC126863239 | 1 | Dec 17, 2021 |
| LOC129929047 | 1 | Aug 8, 2022 |
| LOC129930352 | 1 | Jul 4, 2019 |
| LOC129935184 | 1 | Oct 2, 2020 |
| LOC130059837 | 1 | Jul 3, 2023 |
| LOC132090497 | 1 | Nov 5, 2019 |
| LRP2 | 2 | Apr 17, 2019 |
| LRP5 | 1 | Mar 21, 2019 |
| LZTR1 | 1 | Aug 9, 2018 |
| MACF1 | 6 | Oct 2, 2020 |
| MAGEL2 | 1 | Jan 11, 2019 |
| MAP2K1 | 1 | Mar 30, 2020 |
| MARS1 | 1 | May 11, 2018 |
| MBD5 | 1 | Aug 28, 2020 |
| MEF2C | 1 | May 22, 2023 |
| MEN1 | 1 | Jun 3, 2020 |
| MET | 1 | Jan 17, 2018 |
| MFF-DT | 5 | Apr 25, 2022 |
| MFN2 | 4 | May 11, 2018 |
| MME | 1 | May 11, 2018 |
| MMP21 | 2 | Jul 3, 2023 |
| MORC2 | 1 | May 11, 2018 |
| MPV17 | 1 | Oct 2, 2020 |
| MPZ | 3 | Dec 17, 2021 |
| MTMR2 | 1 | May 11, 2018 |
| MTRFR | 1 | Oct 2, 2020 |
| MYH3 | 1 | Jan 25, 2022 |
| MYH7 | 1 | Feb 26, 2024 |
| MYLK | 1 | Apr 5, 2017 |
| NBAS | 1 | Dec 17, 2021 |
| NDUFS6 | 1 | Oct 2, 2020 |
| NEXMIF | 1 | Nov 2, 2020 |
| NF1 | 3 | Jan 10, 2024 |
| NFIX | 1 | Apr 18, 2023 |
| NFKB1 | 2 | Dec 17, 2021 |
| NIPBL | 1 | Jul 16, 2019 |
| NLGN3 | 1 | Dec 15, 2021 |
| NOTCH2 | 1 | Dec 19, 2018 |
| NOTCH3 | 1 | Apr 18, 2023 |
| NPHP3 | 1 | Jul 14, 2017 |
| NPHP3-ACAD11 | 1 | Jul 14, 2017 |
| NPR2 | 2 | May 22, 2023 |
| NR3C2 | 1 | Apr 25, 2022 |
| NUP93 | 1 | Sep 15, 2023 |
| OCA2 | 1 | Nov 6, 2020 |
| OSGEP | 1 | Jan 3, 2022 |
| P3H1 | 2 | Nov 2, 2022 |
| P4HB | 1 | Jan 30, 2023 |
| PACS2 | 1 | Dec 17, 2021 |
| PAX6 | 1 | Dec 17, 2021 |
| PAX8 | 1 | Dec 17, 2021 |
| PAX8-AS1 | 1 | Dec 17, 2021 |
| PCDH15 | 1 | Dec 3, 2021 |
| PDXK | 1 | Oct 2, 2020 |
| PEX26 | 1 | May 22, 2023 |
| PGAP2 | 2 | Apr 25, 2022 |
| PHEX | 2 | Feb 26, 2024 |
| PIEZO2 | 3 | Sep 15, 2023 |
| PIGN | 1 | Nov 5, 2019 |
| PKD1 | 20 | Apr 18, 2023 |
| PKD1-AS1 | 1 | Dec 17, 2021 |
| PKD2 | 7 | Feb 26, 2024 |
| PKHD1 | 3 | Apr 25, 2022 |
| PLCE1 | 1 | Apr 25, 2022 |
| PLEKHG5 | 3 | May 11, 2018 |
| PLOD2 | 1 | Jun 11, 2018 |
| PLS3 | 1 | Aug 7, 2017 |
| PNPLA8 | 2 | Dec 17, 2021 |
| POGZ | 1 | Dec 17, 2021 |
| POLG | 2 | Mar 20, 2024 |
| POLGARF | 2 | Mar 20, 2024 |
| PPARG | 1 | Jan 30, 2023 |
| PRX | 2 | Dec 16, 2021 |
| PTCH1 | 1 | Dec 17, 2021 |
| PTCHD1-AS | 2 | Feb 26, 2024 |
| PUF60 | 1 | May 22, 2023 |
| RAF1 | 1 | Apr 25, 2023 |
| RARB | 1 | Dec 17, 2021 |
| ROBO4 | 1 | Dec 17, 2021 |
| RORB | 1 | May 22, 2023 |
| RUNX2 | 1 | Dec 16, 2021 |
| SACS | 1 | May 11, 2018 |
| SALL1 | 1 | Aug 8, 2022 |
| SCN1A | 1 | Aug 8, 2022 |
| SCN2A | 1 | Dec 5, 2023 |
| SCN8A | 2 | Oct 17, 2023 |
| SDHD | 1 | Nov 21, 2019 |
| SEC24D | 2 | Dec 5, 2023 |
| SEPSECS | 2 | Oct 2, 2020 |
| SERPINF1 | 1 | Mar 21, 2019 |
| SETD1A | 1 | Apr 25, 2022 |
| SETX | 4 | Oct 2, 2020 |
| SH3TC2 | 1 | Jul 24, 2019 |
| SIN3A | 1 | May 22, 2023 |
| SLC12A3 | 2 | Sep 6, 2017 |
| SLC12A6 | 1 | May 11, 2018 |
| SLC16A2 | 1 | Dec 15, 2021 |
| SLC2A2 | 1 | May 31, 2017 |
| SLC34A3 | 1 | Apr 25, 2022 |
| SLC3A1 | 1 | Aug 10, 2017 |
| SLC4A4 | 1 | Jun 11, 2018 |
| SLC52A2 | 2 | May 11, 2018 |
| SLC5A7 | 1 | May 11, 2018 |
| SLC7A9 | 2 | Oct 17, 2023 |
| SMAD3 | 4 | Dec 5, 2023 |
| SMARCA2 | 1 | Oct 24, 2016 |
| SMARCAL1 | 2 | Jan 7, 2019 |
| SMN1 | 1 | Apr 2, 2020 |
| SOD1 | 2 | May 11, 2018 |
| SON | 1 | May 22, 2019 |
| SPG11 | 1 | Oct 2, 2020 |
| SPG7 | 2 | May 11, 2018 |
| SRCAP | 1 | Jan 30, 2019 |
| SRPK2 | 3 | May 11, 2021 |
| STAT3 | 1 | Dec 17, 2021 |
| SUCLA2 | 1 | Dec 17, 2021 |
| SYNE1 | 1 | May 11, 2018 |
| TAF8 | 1 | Oct 17, 2023 |
| TAPBPL | 1 | May 11, 2018 |
| TAPT1 | 1 | May 2, 2023 |
| TCF20 | 1 | Sep 15, 2023 |
| TGFB2 | 2 | Aug 8, 2022 |
| TGFBR1 | 1 | Dec 5, 2019 |
| TGM5 | 1 | Dec 5, 2023 |
| TIGD1 | 1 | Jan 19, 2018 |
| TLK2 | 1 | Apr 6, 2021 |
| TNNI3 | 1 | May 4, 2018 |
| TRIO | 1 | May 22, 2023 |
| TRPV4 | 2 | Nov 28, 2018 |
| TSC2 | 4 | Jun 3, 2020 |
| TSFM | 1 | Oct 17, 2023 |
| TTN | 7 | Feb 26, 2024 |
| TTN-AS1 | 7 | Feb 26, 2024 |
| TUBA1A | 1 | Nov 30, 2018 |
| TUBB3 | 1 | Jan 30, 2019 |
| UBE3B | 1 | Jan 30, 2023 |
| UMOD | 4 | Mar 5, 2021 |
| UNC45B | 1 | Jan 10, 2024 |
| USH1C | 2 | Sep 15, 2023 |
| USH1G | 1 | Jan 30, 2023 |
| VAMP1 | 1 | May 11, 2018 |
| VCP | 1 | May 11, 2018 |
| VHL | 2 | Mar 5, 2021 |
| VPS13D | 2 | Oct 2, 2020 |
| WAC | 1 | Jan 30, 2023 |
| WDR19 | 2 | May 22, 2023 |
| WNK4 | 1 | Feb 14, 2018 |
| WT1 | 1 | Jun 8, 2017 |
| ZFYVE26 | 2 | May 11, 2018 |
| ZNF469 | 1 | May 29, 2018 |
Condition
Testing in GTR
| Disease name | Number of tests |
|---|---|
| 11p partial monosomy syndrome | 1 test |
| AIP-Related Familial Isolated Pituitary Adenomas | 1 test |
| AKT2-related familial partial lipodystrophy | 1 test |
| AMYLOIDOSIS, LEPTOMENINGEAL, TRANSTHYRETIN-RELATED | 1 test |
| Achondroplasia | 1 test |
| Acquired partial lipodystrophy | 1 test |
| Actin accumulation myopathy | 1 test |
| Adams-Oliver syndrome | 1 test |
| Aicardi Goutieres syndrome | 1 test |
| Aldosterone-producing adrenal cortex adenoma | 1 test |
| Alport syndrome | 2 tests |
| Aminoglycoside-induced deafness | 1 test |
| Amyloid Cardiomyopathy, Transthyretin-related | 1 test |
| Amyotrophic lateral sclerosis | 2 tests |
| Amyotrophic lateral sclerosis type 1 | 1 test |
| Amyotrophic lateral sclerosis type 10 | 1 test |
| Amyotrophic lateral sclerosis type 2, juvenile | 1 test |
| Amyotrophic lateral sclerosis type 6 | 1 test |
| Amyotrophic lateral sclerosis type 8 | 1 test |
| Aneurysm-osteoarthritis syndrome | 1 test |
| Aniridia 1 | 1 test |
| Antenatal Bartter syndrome | 1 test |
| Arthrogryposis, distal, type 1A | 1 test |
| Arthrogryposis, distal, type 1B | 1 test |
| Arthrogryposis- oculomotor limitation-electroretinal anomalies syndrome | 1 test |
| Atypical Rett syndrome | 1 test |
| Atypical hemolytic-uremic syndrome | 2 tests |
| Atypical hemolytic-uremic syndrome with B factor anomaly | 1 test |
| Atypical hemolytic-uremic syndrome with C3 anomaly | 1 test |
| Atypical hemolytic-uremic syndrome with I factor anomaly | 1 test |
| Atypical hemolytic-uremic syndrome with MCP/CD46 anomaly | 1 test |
| Atypical hemolytic-uremic syndrome with thrombomodulin anomaly | 1 test |
| Autosomal dominant Alport syndrome | 1 test |
| Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures | 1 test |
| Autosomal dominant hypocalcemia | 1 test |
| Autosomal dominant hypocalcemia 1 | 1 test |
| Autosomal dominant hypocalcemia 2 | 1 test |
| Autosomal dominant keratitis | 1 test |
| Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) | 1 test |
| Autosomal dominant medullary cystic kidney disease with or without hyperuricemia | 2 tests |
| Autosomal dominant nocturnal frontal lobe epilepsy | 1 test |
| Autosomal dominant nonsyndromic hearing loss 17 | 1 test |
| Autosomal dominant polycystic kidney disease | 2 tests |
| Autosomal dominant pseudohypoaldosteronism type 1 | 1 test |
| Autosomal recessive Alport syndrome | 1 test |
| Autosomal recessive distal spinal muscular atrophy 1 | 1 test |
| Autosomal recessive limb-girdle muscular dystrophy | 2 tests |
| Autosomal recessive limb-girdle muscular dystrophy type 2I | 1 test |
| Autosomal recessive limb-girdle muscular dystrophy type 2K | 1 test |
| Autosomal recessive limb-girdle muscular dystrophy type 2M | 1 test |
| Autosomal recessive limb-girdle muscular dystrophy type 2N | 1 test |
| Autosomal recessive limb-girdle muscular dystrophy type 2O | 1 test |
| Autosomal recessive limb-girdle muscular dystrophy type 2T | 1 test |
| Autosomal recessive limb-girdle muscular dystrophy type 2U | 1 test |
| Autosomal recessive multiple pterygium syndrome | 2 tests |
| Autosomal recessive nonsyndromic hearing loss 1A | 2 tests |
| Autosomal recessive polycystic kidney disease | 2 tests |
| Autosomal recessive primary microcephaly | 2 tests |
| Autosomal recessive proximal renal tubular acidosis | 1 test |
| Autosomal recessive pseudohypoaldosteronism type 1 | 1 test |
| Bardet-Biedl syndrome | 1 test |
| Bardet-Biedl syndrome 10 | 1 test |
| Bartter Syndrome Type 4B, CLCNKA/CLCNKB Digenic | 1 test |
| Bartter disease type 1 | 1 test |
| Bartter disease type 2 | 1 test |
| Bartter disease type 3 | 1 test |
| Bartter disease type 4A | 1 test |
| Bartter disease type 4B | 1 test |
| Bartter disease type 5 | 1 test |
| Bartter syndrome | 2 tests |
| Bartter syndrome with hypocalcemia | 1 test |
| Bartter syndrome, type 3, with hypocalciuria | 1 test |
| Becker muscular dystrophy | 1 test |
| Benign familial hematuria | 1 test |
| Benign familial neonatal-infantile seizures 1 | 1 test |
| Berardinelli-Seip congenital lipodystrophy | 1 test |
| Bethlem myopathy 1A | 2 tests |
| Birt-Hogg-Dube syndrome | 2 tests |
| Bone mineral density quantitative trait locus 18 | 1 test |
| Brittle cornea syndrome 1 | 1 test |
| Bruck syndrome | 2 tests |
| Bruck syndrome 1 | 1 test |
| Bruck syndrome 2 | 1 test |
| CHRNA1-Related Congenital Myasthenic Syndrome | 1 test |
| CIDEC-related familial partial lipodystrophy | 1 test |
| Camptodactyly-tall stature-scoliosis-hearing loss syndrome | 1 test |
| Cardiac valvular dysplasia, X-linked | 1 test |
| Cardiomyopathy | 1 test |
| Charcot-Marie-Tooth disease | 1 test |
| Classic homocystinuria | 1 test |
| Cobalamin C disease | 1 test |
| Coenzyme Q10 deficiency, primary, 1 | 2 tests |
| Coenzyme Q10 deficiency, primary, 3 | 2 tests |
| Coffin Siris/Intellectual Disability | 1 test |
| Coffin-Siris syndrome | 2 tests |
| Coffin-Siris syndrome 1 | 1 test |
| Coffin-Siris syndrome 5 | 1 test |
| Coffin-Siris syndrome 7 | 1 test |
| Cole-Carpenter syndrome | 1 test |
| Cole-Carpenter syndrome 1 | 1 test |
| Cole-Carpenter syndrome 2 | 1 test |
| Collagen 6-related myopathy | 1 test |
| Collagen IV-related nephropathies | 1 test |
| Coloboma of optic nerve | 1 test |
| Combined molybdoflavoprotein enzyme deficiency | 1 test |
| Combined oxidative phosphorylation defect type 11 | 1 test |
| Complex cortical dysplasia with other brain malformations | 1 test |
| Congenital absence of salivary gland | 1 test |
| Congenital anomaly of kidney and urinary tract | 1 test |
| Congenital disorder of glycosylation | 1 test |
| Congenital fibrosis of extraocular muscles | 1 test |
| Congenital generalized lipodystrophy type 2 | 1 test |
| Congenital generalized lipodystrophy type 4 | 1 test |
| Congenital intestinal transport defect | 1 test |
| Congenital muscular dystrophy | 2 tests |
| Congenital muscular dystrophy due to LMNA mutation | 1 test |
| Congenital myasthenic syndrome | 2 tests |
| Congenital myasthenic syndrome 4C | 1 test |
| Congenital myasthenic syndrome 5 | 1 test |
| Congenital myopathy | 1 test |
| Congenital myopathy 10b, mild variant | 1 test |
| Congenital myopathy with fiber type disproportion | 1 test |
| Contractures, pterygia, and spondylocarpotarsal fusion syndrome 1A | 1 test |
| Cornelia de Lange syndrome 1 | 1 test |
| Craniolenticulosutural dysplasia | 1 test |
| Craniosynostosis 4 | 1 test |
| Craniosynostosis and dental anomalies | 1 test |
| Cystic fibrosis | 2 tests |
| Cystinosis | 1 test |
| Cystinosis, atypical nephropathic | 1 test |
| Cystinuria | 1 test |
| Cystinuria type A | 1 test |
| Cystinuria type B | 1 test |
| Cystinuria, type a/b | 1 test |
| DNA ligase IV deficiency | 1 test |
| De Lange syndrome | 3 tests |
| Dent disease type 1 | 1 test |
| Dentinogenesis imperfecta | 1 test |
| Diabetes insipidus, neurohypophyseal, X-linked | 1 test |
| Distal arthrogryposis | 2 tests |
| Distal arthrogryposis type 2B1 | 1 test |
| Distal myopathy | 1 test |
| Distal myopathy with anterior tibial onset | 1 test |
| Distal myopathy, Tateyama type | 1 test |
| Distal renal tubular acidosis | 1 test |
| Duane retraction syndrome | 1 test |
| Duane-radial ray syndrome | 1 test |
| Duchenne muscular dystrophy | 1 test |
| EAST syndrome | 1 test |
| Early infantile epileptic encephalopathy with suppression bursts | 2 tests |
| Ehlers-Danlos syndrome | 2 tests |
| Ehlers-Danlos syndrome, classic type | 1 test |
| Ehlers-Danlos syndrome, type 3 | 1 test |
| Ehlers-Danlos syndrome, type 4 | 2 tests |
| Ehlers-Danlos syndrome, type 4 variant | 1 test |
| Eichsfeld type congenital muscular dystrophy | 1 test |
| Epilepsy, familial focal, with variable foci 1 | 1 test |
| Epilepsy, familial temporal lobe, 1 | 1 test |
| Facial nerve disorder | 1 test |
| Familial amyloid neuropathy | 1 test |
| Familial aplasia of the vermis | 1 test |
| Familial hyperaldosteronism | 2 tests |
| Familial hyperaldosteronism type II | 1 test |
| Familial hyperaldosteronism type III | 1 test |
| Familial hypocalciuric hypercalcemia | 1 test |
| Familial hypocalciuric hypercalcemia 1 | 1 test |
| Familial hypocalciuric hypercalcemia 2 | 1 test |
| Familial hypocalciuric hypercalcemia 3 | 1 test |
| Familial hypokalemia-hypomagnesemia | 2 tests |
| Familial idiopathic steroid-resistant nephrotic syndrome | 2 tests |
| Familial juvenile hyperuricemic nephropathy type 1 | 1 test |
| Familial juvenile hyperuricemic nephropathy type 2 | 1 test |
| Familial medullary thyroid carcinoma | 1 test |
| Familial partial epilepsy | 1 test |
| Familial partial lipodystrophy | 1 test |
| Familial partial lipodystrophy, Dunnigan type | 2 tests |
| Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis | 1 test |
| Familial steroid-resistant nephrotic syndrome with sensorineural deafness | 2 tests |
| Familial thoracic aortic aneurysm and aortic dissection | 2 tests |
| Fanconi anemia | 1 test |
| Fetal akinesia deformation sequence 1 | 2 tests |
| Finnish congenital nephrotic syndrome | 1 test |
| Focal segmental glomerulosclerosis | 2 tests |
| Focal segmental glomerulosclerosis 1 | 1 test |
| Focal segmental glomerulosclerosis 2 | 1 test |
| Focal segmental glomerulosclerosis 4, susceptibility to | 1 test |
| Focal segmental glomerulosclerosis 5 | 1 test |
| Focal segmental glomerulosclerosis 6 | 1 test |
| Focal segmental glomerulosclerosis 9 | 1 test |
| Foveal hypoplasia 1 | 1 test |
| Freeman-Sheldon syndrome | 1 test |
| Fumarase deficiency | 1 test |
| Galloway-Mowat syndrome | 2 tests |
| Galloway-Mowat syndrome 1 | 1 test |
| Galloway-Mowat syndrome 3 | 1 test |
| Generalized epilepsy with febrile seizures plus | 1 test |
| Genetic glomerular disease | 1 test |
| Genetic hypertension | 1 test |
| Genetic interstitial lung disease | 1 test |
| Genetic neuromuscular disease | 1 test |
| Glucocorticoid-remediable aldosteronism | 1 test |
| Gnathodiaphyseal dysplasia | 1 test |
| Gordon syndrome | 1 test |
| Hecht syndrome | 1 test |
| Hemolytic uremic syndrome, atypical, susceptibility to, 1 | 1 test |
| Hemolytic uremic syndrome, atypical, susceptibility to, 7 | 1 test |
| Hereditary Nephrotic Syndromes, Autosomal Recessive | 1 test |
| Hereditary Paraganglioma-Pheochromacytoma Syndrome | 1 test |
| Hereditary amyloidosis | 1 test |
| Hereditary leiomyomatosis and renal cell cancer | 1 test |
| Hereditary lipodystrophy | 1 test |
| Hereditary pancreatitis | 1 test |
| Hereditary pheochromocytoma-paraganglioma | 2 tests |
| Hereditary spastic paraplegia | 1 test |
| High bone mass osteogenesis imperfecta | 1 test |
| Homocystinuria, cblD type, variant 1 | 1 test |
| Horizontal gaze palsy with progressive scoliosis | 1 test |
| Hypercalcemia, infantile, 1 | 1 test |
| Hypercalcemia, infantile, 2 | 1 test |
| Hypertensive disorder | 1 test |
| Hypertrophic cardiomyopathy 1 | 1 test |
| Hypocalcemia, autosomal dominant, with bartter syndrome | 1 test |
| Hypochondroplasia | 1 test |
| Hypogonadotropic hypogonadism 2 with or without anosmia | 1 test |
| Hypophosphatasia | 1 test |
| Hypophosphatemic rickets | 1 test |
| Idiopathic juvenile osteoporosis | 2 tests |
| Immunoglobulin-mediated membranoproliferative glomerulonephritis | 1 test |
| Infantile nephronophthisis | 1 test |
| Infantile-onset X-linked spinal muscular atrophy | 1 test |
| Infantile-onset ascending hereditary spastic paralysis | 1 test |
| Infantile-onset periodic fever-panniculitis-dermatosis syndrome | 1 test |
| Inherited renal tubular disease | 1 test |
| Intellectual disability | 1 test |
| Intellectual disability, autosomal dominant 14 | 1 test |
| Intellectual disability, autosomal dominant 15 | 1 test |
| Intellectual disability, autosomal dominant 16 | 1 test |
| Isolated optic nerve hypoplasia | 1 test |
| Jeune thoracic dystrophy | 1 test |
| Juvenile amyotrophic lateral sclerosis | 1 test |
| Juvenile nephropathic cystinosis | 1 test |
| Juvenile primary lateral sclerosis | 1 test |
| Kabuki syndrome | 1 test |
| Kabuki syndrome 1 | 1 test |
| Kabuki syndrome 2 | 1 test |
| Karyomegalic interstitial nephritis | 1 test |
| Keppen-Lubinsky syndrome | 1 test |
| LAMB2-related infantile-onset nephrotic syndrome | 1 test |
| LIPE-related familial partial lipodystrophy | 1 test |
| Leiomyoma of vulva and esophagus | 1 test |
| Lesch-Nyhan syndrome | 1 test |
| Lethal multiple pterygium syndrome | 1 test |
| Levy-Hollister syndrome | 1 test |
| Liddle syndrome 1 | 1 test |
| Limb-girdle muscular dystrophy | 3 tests |
| Limb-girdle muscular dystrophy due to POMK deficiency | 1 test |
| Loeys-Dietz syndrome | 2 tests |
| Loeys-Dietz syndrome 1 | 1 test |
| Loeys-Dietz syndrome 2 | 1 test |
| Loeys-Dietz syndrome 4 | 1 test |
| MEGF10-related myopathy | 1 test |
| MULTIPLE ENDOCRINE NEOPLASIA, TYPE IIA | 1 test |
| MULTIPLE ENDOCRINE NEOPLASIA, TYPE IIB | 1 test |
| MYH9-related disorder | 1 test |
| Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss | 1 test |
| Malignant migrating partial seizures of infancy | 1 test |
| Mandibular hypoplasia-deafness-progeroid syndrome | 1 test |
| Mandibuloacral dysplasia with type B lipodystrophy | 1 test |
| Marfan syndrome | 2 tests |
| Maturity onset diabetes mellitus in young | 1 test |
| Maturity-onset diabetes of the young type 1 | 1 test |
| Maturity-onset diabetes of the young type 2 | 1 test |
| Maturity-onset diabetes of the young type 3 | 1 test |
| Meacham syndrome | 1 test |
| Meckel-Gruber syndrome | 1 test |
| Methylmalonic acidemia with homocystinuria cblC | 2 tests |
| Methylmalonic aciduria and homocystinuria type cblD | 1 test |
| Microangiopathic hemolytic anemia | 1 test |
| Microcephalic osteodysplastic primordial dwarfism type II | 1 test |
| Microcephaly 3, primary, autosomal recessive | 1 test |
| Microcephaly, normal intelligence and immunodeficiency | 1 test |
| Mitochondrial DNA depletion syndrome 4b | 1 test |
| Mitochondrial non-syndromic sensorineural hearing loss | 1 test |
| Miyoshi muscular dystrophy 1 | 1 test |
| Miyoshi muscular dystrophy 3 | 1 test |
| Monogenic Non-Syndromic Obesity, Autosomal Recessive | 1 test |
| Mosaic variegated aneuploidy syndrome | 1 test |
| Mosaic variegated aneuploidy syndrome 1 | 1 test |
| Mosaic variegated aneuploidy syndrome 3 | 1 test |
| Motor neuron disease | 1 test |
| Mucopolysaccharidosis | 1 test |
| Muenke syndrome | 1 test |
| Multiple endocrine neoplasia | 1 test |
| Multiple endocrine neoplasia type 4 | 1 test |
| Multiple endocrine neoplasia, type 1 | 1 test |
| Multiple endocrine neoplasia, type 2 | 1 test |
| Muscular dystrophy | 2 tests |
| Muscular dystrophy, limb-girdle, autosomal dominant | 1 test |
| Muscular dystrophy-dystroglycanopathy | 2 tests |
| Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7 | 1 test |
| Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13 | 1 test |
| Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14 | 1 test |
| Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 | 1 test |
| Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A6 | 1 test |
| Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 10 | 1 test |
| Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11 | 1 test |
| Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12 | 1 test |
| Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8 | 1 test |
| Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1 | 1 test |
| Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B14 | 1 test |
| Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B2 | 1 test |
| Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3 | 1 test |
| Muscular dystrophy-dystroglycanopathy (congenital without impaired intellectual development), type B, 5 | 1 test |
| Myoclonic-astatic epilepsy | 1 test |
| Myopathy, myosin storage, autosomal recessive | 1 test |
| Myosin storage myopathy | 1 test |
| Myotonic syndrome | 1 test |
| Nail-patella syndrome | 1 test |
| Neonatal Marfan syndrome | 1 test |
| Nephroblastoma | 1 test |
| Nephrocalcinosis | 1 test |
| Nephrogenic diabetes insipidus | 2 tests |
| Nephrolithiasis | 1 test |
| Nephronophthisis | 2 tests |
| Nephronophthisis 1 | 1 test |
| Nephronophthisis 3 | 1 test |
| Nephropathic cystinosis | 1 test |
| Nephrotic syndrome | 1 test |
| Nephrotic syndrome, type 2 | 1 test |
| Nephrotic syndrome, type 3 | 1 test |
| Nephrotic syndrome, type 6 | 1 test |
| Nephrotic syndrome, type 8 | 1 test |
| Nephrotic syndrome, type 9 | 2 tests |
| Nestor-Guillermo progeria syndrome | 1 test |
| Neurohypophyseal diabetes insipidus | 1 test |
| Neuronopathy, distal hereditary motor, autosomal dominant 8 | 1 test |
| Nicolaides-Baraitser syndrome | 2 tests |
| Nijmegen breakage syndrome-like disorder | 1 test |
| Nonpapillary renal cell carcinoma | 1 test |
| Noonan syndrome | 2 tests |
| Obesity due to pro-opiomelanocortin deficiency | 2 tests |
| Ocular cystinosis | 1 test |
| Oromandibular-limb hypogenesis spectrum | 1 test |
| Osteodysplastic primordial dwarfism, type 1 | 1 test |
| Osteogenesis imperfecta | 3 tests |
| Osteogenesis imperfecta type 10 | 1 test |
| Osteogenesis imperfecta type 11 | 1 test |
| Osteogenesis imperfecta type 12 | 1 test |
| Osteogenesis imperfecta type 13 | 1 test |
| Osteogenesis imperfecta type 14 | 1 test |
| Osteogenesis imperfecta type 15 | 1 test |
| Osteogenesis imperfecta type 17 | 1 test |
| Osteogenesis imperfecta type 5 | 2 tests |
| Osteogenesis imperfecta type 6 | 1 test |
| Osteogenesis imperfecta type 7 | 1 test |
| Osteogenesis imperfecta type 8 | 1 test |
| Osteogenesis imperfecta type 9 | 1 test |
| Osteogenesis imperfecta type I | 1 test |
| Osteogenesis imperfecta type III | 1 test |
| Osteogenesis imperfecta with normal sclerae, dominant form | 1 test |
| Osteogenesis imperfecta, perinatal lethal | 1 test |
| Osteoporosis with pseudoglioma | 2 tests |
| PLIN1-related familial partial lipodystrophy | 1 test |
| POLG-related disorder | 1 test |
| PPARG-related familial partial lipodystrophy | 2 tests |
| Papillary renal cell carcinoma type 1 | 1 test |
| Paraganglioma | 1 test |
| Paragangliomas 1 | 1 test |
| Paragangliomas 2 | 1 test |
| Paragangliomas 3 | 1 test |
| Paragangliomas 4 | 1 test |
| Paragangliomas 5 | 1 test |
| Partial lipodystrophy, congenital cataracts, and neurodegeneration syndrome | 1 test |
| Pendred syndrome | 1 test |
| Perlman syndrome | 1 test |
| Peroxisome biogenesis disorder | 1 test |
| Peroxisome biogenesis disorder 1A (Zellweger) | 1 test |
| Pfeiffer syndrome | 2 tests |
| Pheochromocytoma | 2 tests |
| Pierson syndrome | 2 tests |
| Pleuropulmonary blastoma | 1 test |
| Polycystic kidney disease 2 | 1 test |
| Polycystic kidney disease 3 with or without polycystic liver disease | 1 test |
| Polycystic kidney disease 5 | 1 test |
| Polycystic kidney disease 6 with or without polycystic liver disease | 1 test |
| Polycystic kidney disease, adult type | 1 test |
| Polycystic liver disease 4 with or without kidney cysts | 1 test |
| Pontocerebellar hypoplasia type 2A | 1 test |
| Pontocerebellar hypoplasia type 2B | 1 test |
| Pontocerebellar hypoplasia type 2C | 1 test |
| Pontocerebellar hypoplasia type 2D | 1 test |
| Pontocerebellar hypoplasia type 4 | 1 test |
| Pontocerebellar hypoplasia type 5 | 1 test |
| Pontocerebellar hypoplasia type 6 | 1 test |
| Pontoneocerebellar hypoplasia | 1 test |
| Porphobilinogen synthase deficiency | 1 test |
| Postmenopausal osteoporosis | 1 test |
| Primary Autosomal Recessive Microcephalies and Seckel Syndrome Spectrum Disorders | 1 test |
| Primary ciliary dyskinesia | 1 test |
| Primary familial hypertrophic cardiomyopathy | 1 test |
| Primary hyperoxaluria | 4 tests |
| Primary hyperoxaluria type 3 | 1 test |
| Primary hyperoxaluria, type I | 1 test |
| Primary hyperoxaluria, type II | 1 test |
| Progeroid features-hepatocellular carcinoma predisposition syndrome | 1 test |
| Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1 | 1 test |
| Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2 | 1 test |
| Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3 | 1 test |
| Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1 | 1 test |
| Progressive sclerosing poliodystrophy | 1 test |
| Proteasome-associated autoinflammatory syndrome 1 | 1 test |
| Pseudohypoaldosteronism | 1 test |
| Pseudohypoaldosteronism type 1 | 1 test |
| Pseudohypoaldosteronism type 2A | 1 test |
| Pseudohypoaldosteronism type 2B | 1 test |
| Pseudohypoaldosteronism type 2C | 1 test |
| Pseudohypoaldosteronism type 2D | 1 test |
| Pseudohypoaldosteronism type 2E | 1 test |
| Pulmonary hypertension, primary, 1 | 1 test |
| Pulmonary veno-occlusive disease and/or pulmonary capillary haemangiomatosis | 1 test |
| Rare genetic epilepsy | 1 test |
| Rare genetic renal disease | 1 test |
| Renal coloboma syndrome | 4 tests |
| Renal cysts and diabetes syndrome | 5 tests |
| Renal hypodysplasia/aplasia 1 | 1 test |
| Renal hypomagnesemia 5 with ocular involvement | 1 test |
| Renal neoplasm | 1 test |
| Renal tubular dysgenesis | 2 tests |
| Rett syndrome | 1 test |
| Rippling muscle disease 2 | 1 test |
| SHORT syndrome | 1 test |
| Saethre-Chotzen syndrome | 2 tests |
| Schaaf-Yang syndrome | 1 test |
| Schimke immuno-osseous dysplasia | 2 tests |
| Seckel syndrome | 2 tests |
| Seckel syndrome 1 | 1 test |
| Seckel syndrome 2 | 1 test |
| Seckel syndrome 4 | 1 test |
| Seckel syndrome 5 | 1 test |
| Seckel syndrome 7 | 1 test |
| Seckel syndrome 8 | 1 test |
| Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis | 1 test |
| Severe myoclonic epilepsy in infancy | 1 test |
| Severe short stature | 1 test |
| Short rib-polydactyly syndrome | 1 test |
| Short stature, microcephaly, and endocrine dysfunction | 1 test |
| Spinal muscular atrophy | 2 tests |
| Sulfite oxidase deficiency | 1 test |
| Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A | 1 test |
| Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B | 1 test |
| Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C | 1 test |
| Syndromic X-linked intellectual disability Najm type | 1 test |
| TARDBP-related frontotemporal dementia | 1 test |
| TWIST1-related craniosynostosis | 1 test |
| Thanatophoric dysplasia type 1 | 1 test |
| Thrombotic thrombocytopenic purpura | 1 test |
| Tuberous sclerosis 1 | 1 test |
| Tuberous sclerosis 2 | 1 test |
| Tubulointerstitial kidney disease, autosomal dominant, 2 | 1 test |
| Ullrich congenital muscular dystrophy | 1 test |
| Ullrich congenital muscular dystrophy 1A | 2 tests |
| Undetermined early-onset epileptic encephalopathy | 1 test |
| Upshaw-Schulman syndrome | 1 test |
| Van Maldergem syndrome | 1 test |
| Ventriculomegaly-cystic kidney disease | 1 test |
| Vitamin B12-responsive methylmalonic acidemia, type cblDv2 | 1 test |
| Von Hippel-Lindau syndrome | 3 tests |
| WT1-Related Disorders | 1 test |
| Werdnig-Hoffmann disease | 1 test |
| Wilms tumor 1 | 1 test |
| X-linked Alport syndrome | 1 test |
| X-linked diffuse leiomyomatosis-Alport syndrome | 1 test |