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: 290
Gene
Gene | Submissions | Last Updated |
---|---|---|
AARS1 | 2 | May 11, 2018 |
ACTA1 | 1 | May 11, 2018 |
ACTN4 | 1 | Jun 6, 2017 |
ADAR | 1 | Sep 23, 2019 |
ADNP | 1 | Nov 21, 2019 |
ADPRS | 1 | Oct 2, 2020 |
AGPAT2 | 1 | Jul 16, 2019 |
AGTPBP1 | 2 | Oct 2, 2020 |
ANLN | 1 | Sep 4, 2020 |
AQP2 | 1 | Jun 8, 2017 |
ARHGEF10 | 2 | Nov 28, 2018 |
ARHGEF9 | 1 | Dec 29, 2020 |
ARID1B | 4 | Jul 16, 2019 |
ARSA | 1 | Oct 2, 2020 |
ATP7A | 1 | May 11, 2018 |
AVPR2 | 1 | Oct 24, 2016 |
BBS10 | 1 | Aug 19, 2019 |
BCL11A | 1 | Mar 30, 2020 |
BICD2 | 1 | May 11, 2018 |
CAPN3 | 1 | Oct 18, 2017 |
CASR | 4 | Jan 6, 2020 |
CFH | 2 | Aug 28, 2020 |
CFTR | 2 | Oct 23, 2020 |
CFTR-AS1 | 1 | Aug 30, 2018 |
CHD1L | 1 | Apr 11, 2019 |
CHD4 | 1 | Sep 4, 2020 |
CHD7 | 3 | Dec 29, 2020 |
CHRNG | 1 | Jan 19, 2018 |
CLCN1 | 1 | May 11, 2018 |
COL11A2 | 1 | Sep 28, 2020 |
COL12A1 | 2 | May 11, 2018 |
COL1A1 | 7 | Jun 9, 2020 |
COL1A2 | 6 | Apr 2, 2020 |
COL3A1 | 2 | Sep 28, 2017 |
COL4A3 | 4 | Dec 30, 2020 |
COL4A4 | 5 | Feb 14, 2020 |
COL4A5 | 6 | Jan 22, 2020 |
COL5A2 | 1 | Apr 2, 2020 |
COL6A1 | 1 | May 11, 2018 |
COL6A2 | 1 | May 11, 2018 |
COL6A3 | 1 | May 11, 2018 |
CRTAP | 1 | Aug 2, 2017 |
CTNS | 3 | Mar 24, 2020 |
CYP24A1 | 1 | Nov 14, 2019 |
DHTKD1 | 2 | May 11, 2018 |
DNAJB11 | 1 | Nov 27, 2020 |
DNM1L | 1 | Oct 2, 2020 |
DNMT3A | 1 | May 22, 2019 |
ECEL1 | 2 | Dec 4, 2018 |
ECHS1 | 1 | Oct 2, 2020 |
EFTUD2 | 1 | Feb 14, 2020 |
EGR2 | 1 | Oct 2, 2020 |
ERCC6 | 1 | Dec 11, 2018 |
ETFDH | 1 | May 11, 2018 |
EXOSC3 | 1 | Oct 2, 2020 |
EYA1 | 1 | Feb 14, 2020 |
EZH2 | 1 | Jul 16, 2019 |
FAT1 | 1 | Sep 26, 2019 |
FBLN5 | 1 | May 11, 2018 |
FBN1 | 8 | Apr 2, 2020 |
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 | 1 | Jul 28, 2017 |
FUS | 2 | May 11, 2018 |
FXN | 1 | May 11, 2018 |
GAN | 1 | May 11, 2018 |
GARS1 | 2 | May 11, 2018 |
GBF1 | 4 | Aug 11, 2020 |
GDAP1 | 3 | May 11, 2018 |
GNA11 | 1 | Dec 5, 2019 |
GNPTAB | 1 | Dec 6, 2018 |
GRHPR | 1 | Dec 19, 2018 |
HINT1 | 1 | May 11, 2018 |
HNF1B | 2 | Jul 15, 2019 |
HNF4A | 1 | Sep 4, 2017 |
HSPB1 | 1 | May 11, 2018 |
HSPD1 | 1 | May 22, 2019 |
IFIH1 | 1 | Sep 23, 2019 |
IGHMBP2 | 4 | May 11, 2018 |
INPPL1 | 1 | Nov 28, 2018 |
JAG1 | 1 | Nov 27, 2020 |
KCNH1 | 1 | Sep 4, 2019 |
KIF1B | 1 | May 11, 2018 |
KIF5C | 2 | Jul 30, 2019 |
KMT2D | 3 | May 11, 2018 |
KMT2E | 1 | Dec 19, 2018 |
LAMB2 | 1 | Jun 30, 2017 |
LGI4 | 2 | May 11, 2018 |
LIFR | 2 | Feb 1, 2021 |
LMX1B | 4 | Dec 5, 2019 |
LOC101927318 | 1 | Jun 8, 2017 |
LOC107982234 | 1 | Jun 8, 2017 |
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 |
MEN1 | 1 | Jun 3, 2020 |
MET | 1 | Jan 17, 2018 |
MFF-DT | 4 | Dec 30, 2020 |
MFN2 | 4 | May 11, 2018 |
MME | 1 | May 11, 2018 |
MORC2 | 1 | May 11, 2018 |
MPV17 | 1 | Oct 2, 2020 |
MPZ | 2 | Jul 6, 2020 |
MTMR2 | 1 | May 11, 2018 |
MTRFR | 1 | Oct 2, 2020 |
MYLK | 1 | Apr 5, 2017 |
NDUFS6 | 1 | Oct 2, 2020 |
NEXMIF | 1 | Nov 2, 2020 |
NF1 | 1 | Jan 6, 2020 |
NFKB1 | 1 | Oct 19, 2020 |
NIPBL | 1 | Jul 16, 2019 |
NOTCH2 | 1 | Dec 19, 2018 |
NPHP3 | 1 | Jul 14, 2017 |
NPHP3-ACAD11 | 1 | Jul 14, 2017 |
NPR2 | 1 | Nov 15, 2019 |
OCA2 | 1 | Nov 6, 2020 |
P3H1 | 1 | Jul 4, 2019 |
PDXK | 1 | Oct 2, 2020 |
PIEZO2 | 2 | May 11, 2018 |
PIGN | 1 | Nov 5, 2019 |
PKD1 | 15 | Aug 28, 2020 |
PKD2 | 4 | Apr 1, 2019 |
PKHD1 | 2 | Mar 9, 2020 |
PLEKHG5 | 3 | May 11, 2018 |
PLOD2 | 1 | Jun 11, 2018 |
PLS3 | 1 | Aug 7, 2017 |
POLG | 2 | Oct 2, 2020 |
PRX | 1 | May 11, 2018 |
SACS | 1 | May 11, 2018 |
SDHD | 1 | Nov 21, 2019 |
SEPSECS | 2 | Oct 2, 2020 |
SERPINF1 | 1 | Mar 21, 2019 |
SETX | 4 | Oct 2, 2020 |
SH3TC2 | 1 | Jul 24, 2019 |
SLC12A3 | 2 | Sep 6, 2017 |
SLC12A6 | 1 | May 11, 2018 |
SLC2A2 | 1 | May 31, 2017 |
SLC3A1 | 1 | Aug 10, 2017 |
SLC4A4 | 1 | Jun 11, 2018 |
SLC52A2 | 2 | May 11, 2018 |
SLC5A7 | 1 | May 11, 2018 |
SMAD3 | 2 | Mar 9, 2020 |
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 |
SYNE1 | 1 | May 11, 2018 |
TAPBPL | 1 | May 11, 2018 |
TGFB2 | 1 | May 29, 2018 |
TGFBR1 | 1 | Dec 5, 2019 |
TIGD1 | 1 | Jan 19, 2018 |
TNNI3 | 1 | May 4, 2018 |
TRPV4 | 2 | Nov 28, 2018 |
TSC2 | 3 | Oct 26, 2017 |
TTN | 2 | Oct 2, 2020 |
TTN-AS1 | 2 | Oct 2, 2020 |
TUBA1A | 1 | Nov 30, 2018 |
TUBB3 | 1 | Jan 30, 2019 |
UMOD | 3 | Jun 3, 2020 |
VAMP1 | 1 | May 11, 2018 |
VCP | 1 | May 11, 2018 |
VHL | 1 | Dec 13, 2017 |
VPS13D | 2 | Oct 2, 2020 |
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 |
---|---|
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 |
Adams-Oliver syndrome | 1 test |
Ahus, susceptibility to, 7 | 1 test |
Aicardi Goutieres syndrome | 1 test |
Aldosterone-producing adrenal cortex adenoma | 1 test |
Alport syndrome | 2 tests |
Alport syndrome 1, X-linked recessive | 1 test |
Alport syndrome 3, autosomal dominant | 1 test |
Alport syndrome, autosomal recessive | 1 test |
Aminoglycoside-induced deafness | 1 test |
Amyloid Cardiomyopathy, Transthyretin-related | 1 test |
Amyloidogenic transthyretin amyloidosis | 1 test |
Amyotrophic lateral sclerosis | 2 tests |
Amyotrophic lateral sclerosis 6, with or without frontotemporal dementia | 1 test |
Amyotrophic lateral sclerosis type 1 | 1 test |
Amyotrophic lateral sclerosis type 10 | 1 test |
Amyotrophic lateral sclerosis type 2 | 1 test |
Amyotrophic lateral sclerosis type 8 | 1 test |
Aniridia 1 | 1 test |
Antenatal Bartter Syndrome | 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 1 | 1 test |
Atypical hemolytic-uremic syndrome 2 | 1 test |
Atypical hemolytic-uremic syndrome 3 | 1 test |
Atypical hemolytic-uremic syndrome 4 | 1 test |
Atypical hemolytic-uremic syndrome 5 | 1 test |
Atypical hemolytic-uremic syndrome 6 | 1 test |
Autoinflammation, panniculitis, and dermatosis syndrome | 1 test |
Autosomal dominant hypocalcemia | 1 test |
Autosomal dominant medullary cystic kidney disease with hyperuricemia | 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 deafness 17 | 1 test |
Autosomal dominant polycystic kidney disease | 2 tests |
Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 1 | 1 test |
Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 2 | 1 test |
Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 3 | 1 test |
Autosomal dominant pseudohypoaldosteronism type 1 | 1 test |
Autosomal recessive multiple pterygium syndrome | 2 tests |
Autosomal recessive polycystic kidney disease | 2 tests |
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 4a | 1 test |
Bartter syndrome | 2 tests |
Bartter syndrome type 3 | 1 test |
Bartter syndrome, type 1, antenatal | 1 test |
Bartter syndrome, type 2, antenatal | 1 test |
Bartter syndrome, type 3, with hypocalciuria | 1 test |
Bartter syndrome, type 4b | 1 test |
Bartter syndrome, type 5, antenatal, transient | 1 test |
Becker muscular dystrophy | 1 test |
Benign familial hematuria | 1 test |
Berardinelli-Seip congenital lipodystrophy | 1 test |
Bethlem myopathy 1 | 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 |
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 |
Coenzyme Q10 deficiency, primary, 6 | 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 IV-related nephropathies | 1 test |
Collagen VI-related myopathy | 1 test |
Coloboma of optic disc | 1 test |
Combined molybdoflavoprotein enzyme deficiency | 1 test |
Combined oxidative phosphorylation deficiency 11 | 1 test |
Congenital absence of salivary gland | 1 test |
Congenital anomalies 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 intestinal transport defect | 1 test |
Congenital muscular dystrophy | 2 tests |
Congenital muscular dystrophy, LMNA-related | 1 test |
Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A2 | 1 test |
Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A6 | 1 test |
Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A7 | 1 test |
Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B1 | 1 test |
Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B2 | 1 test |
Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B3 | 1 test |
Congenital muscular dystrophy-dystroglycanopathy without mental retardation, type B5 | 1 test |
Congenital myasthenic syndrome | 2 tests |
Congenital myasthenic syndrome 4C | 1 test |
Congenital myopathy | 1 test |
Congenital myopathy with fiber type disproportion | 1 test |
Contractures, pterygia, and variable skeletal fusions syndrome 1A | 1 test |
Cornelia de Lange syndrome 1 | 1 test |
Cortical dysplasia, complex, with other brain malformations | 1 test |
Craniolenticulosutural dysplasia | 1 test |
Craniosynostosis 1 | 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 |
De Lange syndrome | 3 tests |
Deafness, autosomal recessive 1A | 2 tests |
Deafness, nonsyndromic sensorineural, mitochondrial | 1 test |
Dent disease type 1 | 1 test |
Dentinogenesis imperfecta | 1 test |
Diabetes insipidus, neurohypophyseal type | 1 test |
Distal arthrogryposis | 2 tests |
Distal arthrogryposis type 1A | 1 test |
Distal arthrogryposis type 1B | 1 test |
Distal arthrogryposis type 2B | 1 test |
Distal myopathy | 1 test |
Distal myopathy, Tateyama type | 1 test |
Distal renal tubular acidosis | 1 test |
Distal spinal muscular atrophy, congenital nonprogressive | 1 test |
Duane's 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 |
Endplate acetylcholinesterase deficiency | 1 test |
Epilepsy, familial focal, with variable foci 1 | 1 test |
Facial nerve disease | 1 test |
Familial hyperaldosteronism | 2 tests |
Familial hyperaldosteronism type 3 | 1 test |
Familial hypertrophic cardiomyopathy 1 | 1 test |
Familial hypocalciuric hypercalcemia | 1 test |
Familial hypokalemia-hypomagnesemia | 2 tests |
Familial medullary thyroid carcinoma | 1 test |
Familial partial epilepsy | 1 test |
Familial partial lipodystrophy | 1 test |
Familial partial lipodystrophy 2 | 2 tests |
Familial partial lipodystrophy 3 | 2 tests |
Familial partial lipodystrophy 4 | 1 test |
Familial partial lipodystrophy 5 | 1 test |
Familial partial lipodystrophy 6 | 1 test |
Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis | 1 test |
Familial temporal lobe epilepsy 1 | 1 test |
Familial thoracic aortic aneurysm and aortic dissection | 2 tests |
Fanconi anemia | 1 test |
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 and presenile cataract syndrome | 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 |
Gaze palsy, familial horizontal, with progressive scoliosis | 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 lipodystrophy | 1 test |
Genetic neuromuscular disease | 1 test |
Gnathodiaphyseal dysplasia | 1 test |
Gordon's syndrome | 1 test |
Hecht syndrome | 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 Paraganglioma-Pheochromocytoma Syndromes | 2 tests |
Hereditary amyloidosis | 1 test |
Hereditary leiomyomatosis and renal cell cancer | 1 test |
Hereditary nephrotic syndrome | 2 tests |
Hereditary pancreatitis | 1 test |
Hereditary spastic paraplegia | 1 test |
High bone mass osteogenesis imperfecta | 1 test |
Homocystinuria, cblD type, variant 1 | 1 test |
Hyperaldosteronism, familial, type I | 1 test |
Hyperaldosteronism, familial, type II | 1 test |
Hypercalcemia, infantile, 1 | 1 test |
Hypercalcemia, infantile, 2 | 1 test |
Hypertensive disorder | 1 test |
Hyperuricemic nephropathy, familial juvenile, 2 | 1 test |
Hypocalcemia, autosomal dominant 1 | 1 test |
Hypocalcemia, autosomal dominant 1, with bartter syndrome | 1 test |
Hypocalcemia, autosomal dominant 2 | 1 test |
Hypocalcemia, autosomal dominant, with bartter syndrome | 1 test |
Hypocalciuric hypercalcemia, familial, type 1 | 1 test |
Hypocalciuric hypercalcemia, familial, type II | 1 test |
Hypocalciuric hypercalcemia, familial, type III | 1 test |
Hypochondroplasia | 1 test |
Hypogonadotropic hypogonadism 2 with or without anosmia | 1 test |
Hypomagnesemia 5, renal, with ocular involvement | 1 test |
Hypophosphatasia | 1 test |
Hypophosphatemic rickets | 1 test |
Idiopathic juvenile osteoporosis | 2 tests |
Idiopathic nephrotic syndrome | 1 test |
Infantile nephronophthisis | 1 test |
Infantile-onset ascending hereditary spastic paralysis | 1 test |
Inherited renal tubular disease | 1 test |
Intellectual disability | 1 test |
Interstitial nephritis, karyomegalic | 1 test |
Isolated sulfite oxidase deficiency | 1 test |
Jeune thoracic dystrophy | 1 test |
Joubert syndrome | 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 |
Keppen-Lubinsky syndrome | 1 test |
Keratitis, hereditary | 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 |
Lig4 syndrome | 1 test |
Limb-girdle muscular dystrophy | 3 tests |
Limb-girdle muscular dystrophy autosomal dominant | 1 test |
Limb-girdle muscular dystrophy, autosomal recessive | 2 tests |
Limb-girdle muscular dystrophy, type 1E | 1 test |
Limb-girdle muscular dystrophy-dystroglycanopathy, type C1 | 1 test |
Limb-girdle muscular dystrophy-dystroglycanopathy, type C2 | 1 test |
Limb-girdle muscular dystrophy-dystroglycanopathy, type C3 | 1 test |
Limb-girdle muscular dystrophy-dystroglycanopathy, type C4 | 1 test |
Limb-girdle muscular dystrophy-dystroglycanopathy, type C5 | 1 test |
Lipodystrophy, congenital generalized, type 4 | 1 test |
Loeys-Dietz syndrome | 2 tests |
Loeys-Dietz syndrome 1 | 1 test |
Loeys-Dietz syndrome 2 | 1 test |
Loeys-Dietz syndrome 3 | 1 test |
Loeys-Dietz syndrome 4 | 1 test |
MYH7-related late-onset scapuloperoneal muscular dystrophy | 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 features, and lipodystrophy syndrome | 1 test |
Mandibuloacral dysplasia with type B lipodystrophy | 1 test |
Marfan syndrome | 2 tests |
Marfan syndrome, neonatal | 1 test |
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 |
Medullary cystic kidney disease 1 | 1 test |
Mental retardation and microcephaly with pontine and cerebellar hypoplasia | 1 test |
Mental retardation, autosomal dominant 14 | 1 test |
Mental retardation, autosomal dominant 15 | 1 test |
Mental retardation, autosomal dominant 16 | 1 test |
Methylmalonic acidemia with homocystinuria cblC | 2 tests |
Methylmalonic acidemia with homocystinuria cblD | 1 test |
Methylmalonic aciduria, cblD type, variant 2 | 1 test |
Microangiopathic hemolytic anemia | 1 test |
Microcephalic osteodysplastic primordial dwarfism type II | 1 test |
Microcephaly, normal intelligence and immunodeficiency | 1 test |
Mitochondrial DNA depletion syndrome 4B, MNGIE type | 1 test |
Miyoshi muscular dystrophy 1 | 1 test |
Miyoshi muscular dystrophy 3 | 1 test |
Molybdenum cofactor deficiency, complementation group A | 1 test |
Molybdenum cofactor deficiency, complementation group B | 1 test |
Molybdenum cofactor deficiency, complementation group C | 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 1 | 1 test |
Multiple endocrine neoplasia, type 2 | 1 test |
Multiple endocrine neoplasia, type 2a | 1 test |
Multiple endocrine neoplasia, type 2b | 1 test |
Multiple endocrine neoplasia, type 4 | 1 test |
Multiple fibrofolliculomas | 2 tests |
Muscular dystrophy | 2 tests |
Muscular dystrophy-dystroglycanopathy | 2 tests |
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, 13 | 1 test |
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 14 | 1 test |
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8 | 1 test |
Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type b, 14 | 1 test |
Muscular dystrophy-dystroglycanopathy (limb-girdle), type c, 12 | 1 test |
Muscular dystrophy-dystroglycanopathy (limb-girdle), type c, 14 | 1 test |
Muscular dystrophy-dystroglycanopathy (limb-girdle), type c, 7 | 1 test |
Myoclonic atonic seizures | 1 test |
Myopathy, areflexia, respiratory distress, and dysphagia, early-onset | 1 test |
Myopathy, areflexia, respiratory distress, and dysphagia, early-onset, mild variant | 1 test |
Myopathy, distal, with anterior tibial onset | 1 test |
Myopathy, myosin storage, autosomal recessive | 1 test |
Myosin storage myopathy | 1 test |
Myotonic syndrome | 1 test |
Nail-patella syndrome | 1 test |
Nemaline myopathy 3 | 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 3 | 1 test |
Nephrotic syndrome, type 5, with or without ocular abnormalities | 1 test |
Nephrotic syndrome, type 6 | 1 test |
Nephrotic syndrome, type 7 | 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 |
Nicolaides-Baraitser syndrome | 2 tests |
Nijmegen breakage syndrome-like disorder | 1 test |
Noonan syndrome | 2 tests |
Ocular cystinosis | 1 test |
Optic nerve hypoplasia, bilateral | 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 12 | 1 test |
Osteogenesis imperfecta type 5 | 2 tests |
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, recessive perinatal lethal | 1 test |
Osteogenesis imperfecta, type VI | 1 test |
Osteogenesis imperfecta, type XI | 1 test |
Osteogenesis imperfecta, type xiii | 1 test |
Osteogenesis imperfecta, type xiv | 1 test |
Osteogenesis imperfecta, type xv | 1 test |
Osteogenesis imperfecta, type xvii | 1 test |
Osteoporosis with pseudoglioma | 2 tests |
POLG-related disorders | 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 |
Pena-Shokeir syndrome type I | 2 tests |
Pendred syndrome | 1 test |
Perlman syndrome | 1 test |
Peroxisome biogenesis disorder 1A (Zellweger) | 1 test |
Peroxisome biogenesis disorders, Zellweger syndrome spectrum | 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 | 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 autosomal recessive microcephaly | 2 tests |
Primary autosomal recessive microcephaly 3 | 1 test |
Primary ciliary dyskinesia | 1 test |
Primary familial hypertrophic cardiomyopathy | 1 test |
Primary hyperoxaluria | 4 tests |
Primary hyperoxaluria, type I | 1 test |
Primary hyperoxaluria, type II | 1 test |
Primary hyperoxaluria, type III | 1 test |
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1 | 1 test |
Progressive sclerosing poliodystrophy | 1 test |
Proopiomelanocortin deficiency | 2 tests |
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 cell carcinoma, nonpapillary | 1 test |
Renal cell carcinoma, papillary, 1 | 1 test |
Renal coloboma syndrome | 4 tests |
Renal cysts and diabetes syndrome | 5 tests |
Renal dysplasia | 2 tests |
Renal hypodysplasia/aplasia 1 | 1 test |
Renal neoplasm | 1 test |
Renal tubular acidosis, proximal, with ocular abnormalities and mental retardation | 1 test |
Rett syndrome | 1 test |
Rippling muscle disease 2 | 1 test |
Ruijs-Aalfs syndrome | 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 |
Seizures, benign familial infantile, 1 | 1 test |
Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome | 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 |
Spinal muscular atrophy, X-linked 2 | 1 test |
Spinal muscular atrophy, distal, autosomal recessive, 1 | 1 test |
Spinal muscular atrophy, lower extremity-predominant, 2A, autosomal dominant | 1 test |
TARDBP-related frontotemporal dementia | 1 test |
Thanatophoric dysplasia type 1 | 1 test |
Thrombotic thrombocytopenic purpura | 1 test |
Tuberous sclerosis 1 | 1 test |
Tuberous sclerosis 2 | 1 test |
Ullrich congenital muscular dystrophy | 1 test |
Ullrich congenital muscular dystrophy 1 | 2 tests |
Undetermined early-onset epileptic encephalopathy | 1 test |
Upshaw-Schulman syndrome | 1 test |
Van Maldergem syndrome | 1 test |
Ventriculomegaly with cystic kidney disease | 1 test |
Von Hippel-Lindau syndrome | 3 tests |
WT1-Related Disorders | 1 test |
Werdnig-Hoffmann disease | 1 test |
Wilms tumor 1 | 1 test |
Wilms tumor, aniridia, genitourinary anomalies, and mental retardation syndrome | 1 test |
X-linked diffuse leiomyomatosis-Alport syndrome | 1 test |