MVZ Dr. Eberhard & Partner Dortmund
General information
MVZ Dr. Eberhard & Partner Dortmund
Brauhausstr. 4
Dortmund
Nordrhein-Westfalen
Germany - 44137
https://www.medizin-zentrum-dortmund.de/en/medical-genetics/
Organization ID: 320136
Brauhausstr. 4
Dortmund
Nordrhein-Westfalen
Germany - 44137
https://www.medizin-zentrum-dortmund.de/en/medical-genetics/
Organization ID: 320136
Personnel
- Alf Beckmann, Principal Investigator
Phone: 0231-9572-6602
Email: [email protected] - Mareen Weskamp, Contact
Phone: 0049-231-9572-6600
Email: [email protected]
Assertion criteria
Level: Assertion criteria provided
Summary of submissions to ClinVar
Total submissions: 130
Gene
Gene | Submissions | Last Updated |
---|---|---|
ABCC8 | 5 | Apr 9, 2024 |
ACAN | 3 | Aug 19, 2024 |
ALDOB | 1 | Jan 9, 2024 |
ALPL | 2 | Jan 9, 2024 |
ANK1 | 5 | Oct 15, 2024 |
ATP7B | 3 | Sep 4, 2024 |
CASR | 3 | Apr 29, 2024 |
CEL | 2 | Apr 19, 2022 |
COL11A1 | 1 | Jan 9, 2024 |
COL1A1 | 1 | Apr 19, 2022 |
COL4A3 | 1 | Sep 9, 2024 |
COL4A4 | 3 | Jan 9, 2024 |
COL4A5 | 2 | Jan 9, 2024 |
COL5A1 | 1 | Feb 14, 2024 |
DNAH5 | 2 | Dec 1, 2022 |
DRP2 | 1 | Jan 9, 2024 |
ELN | 1 | Sep 9, 2024 |
F7 | 1 | Jan 9, 2024 |
FBN2 | 1 | Jan 9, 2024 |
FGFR3 | 1 | Jul 24, 2018 |
GCK | 7 | Feb 14, 2024 |
GJB1 | 1 | Mar 6, 2020 |
HBA1 | 2 | Mar 13, 2024 |
HBA2 | 4 | Sep 13, 2024 |
HBB | 4 | Apr 29, 2024 |
HBD | 1 | Jan 9, 2024 |
HJV | 1 | Feb 3, 2021 |
HNF1A | 2 | Jan 9, 2024 |
HNF1B | 1 | Apr 19, 2022 |
HNF4A | 3 | Jan 9, 2024 |
IGHMBP2 | 1 | Apr 19, 2022 |
LDLR | 2 | Sep 10, 2024 |
LOC106099062 | 4 | Apr 29, 2024 |
LOC106804612 | 3 | Sep 13, 2024 |
LOC106804613 | 2 | Mar 13, 2024 |
LOC107133510 | 4 | Apr 29, 2024 |
MFF-DT | 1 | Sep 9, 2024 |
NF1 | 5 | Aug 21, 2024 |
NF2 | 1 | Feb 26, 2024 |
NPR2 | 1 | Apr 19, 2022 |
PCSK9 | 1 | Jan 9, 2024 |
PKD1 | 1 | Aug 20, 2018 |
PKD1L1 | 2 | Apr 19, 2022 |
PRDM5 | 1 | Apr 19, 2022 |
PROC | 6 | Jan 9, 2024 |
PROS1 | 6 | Jan 9, 2024 |
SERPINA1 | 1 | Apr 19, 2022 |
SERPINC1 | 1 | Mar 6, 2020 |
SHOX | 2 | Apr 16, 2024 |
SLC39A4 | 2 | Dec 1, 2022 |
SLC40A1 | 1 | Mar 6, 2020 |
SLC4A1 | 6 | Jan 9, 2024 |
SPTA1 | 5 | Jan 9, 2024 |
SPTB | 14 | Jul 5, 2024 |
STAT5B | 1 | Dec 1, 2022 |
VWF | 2 | Dec 1, 2022 |
WNK1 | 1 | Jan 9, 2024 |
WNT5A | 1 | Jan 9, 2024 |
Condition
Testing in GTR
Disease name | Number of tests |
---|---|
11p partial monosomy syndrome | 1 test |
3-Methylglutaconic aciduria type 3 | 1 test |
4p partial monosomy syndrome | 1 test |
5p partial monosomy syndrome | 1 test |
Adrenoleukodystrophy | 1 test |
Adult-onset autosomal dominant demyelinating leukodystrophy | 1 test |
Alpha thalassemia-X-linked intellectual disability syndrome | 1 test |
Alpha-1-antitrypsin deficiency | 1 test |
Alternating hemiplegia of childhood 1 | 1 test |
Alzheimer disease 3 | 1 test |
Alzheimer disease 4 | 1 test |
Alzheimer disease type 1 | 1 test |
Andersen Tawil syndrome | 1 test |
Angelman syndrome | 4 tests |
Aniridia 1 | 1 test |
Arrhythmogenic right ventricular dysplasia 12 | 1 test |
Arrhythmogenic right ventricular dysplasia 2 | 1 test |
Arrhythmogenic right ventricular dysplasia 5 | 1 test |
Atrial fibrillation, familial, 11 | 1 test |
Atrial fibrillation, familial, 12 | 1 test |
Atrial fibrillation, familial, 13 | 1 test |
Atrial fibrillation, familial, 3 | 1 test |
Atrial fibrillation, familial, 6 | 1 test |
Atrial fibrillation, familial, 7 | 1 test |
Atrial standstill 1 | 1 test |
Atrial standstill 2 | 1 test |
Atrioventricular septal defect and common atrioventricular junction | 1 test |
Autoimmune lymphoproliferative syndrome type 4 | 2 tests |
Autosomal dominant centronuclear myopathy | 1 test |
Autosomal dominant distal renal tubular acidosis | 1 test |
Autosomal dominant hypocalcemia 1 | 1 test |
Autosomal dominant keratitis | 1 test |
Autosomal dominant keratitis-ichthyosis-hearing loss syndrome | 2 tests |
Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) | 3 tests |
Autosomal dominant limb-girdle muscular dystrophy type 1F | 2 tests |
Autosomal dominant optic atrophy classic form | 1 test |
Autosomal dominant polycystic kidney disease | 1 test |
Autosomal recessive distal renal tubular acidosis | 1 test |
Autosomal recessive limb-girdle muscular dystrophy type 2A | 2 tests |
Autosomal recessive limb-girdle muscular dystrophy type 2B | 3 tests |
Autosomal recessive limb-girdle muscular dystrophy type 2C | 3 tests |
Autosomal recessive limb-girdle muscular dystrophy type 2D | 3 tests |
Autosomal recessive limb-girdle muscular dystrophy type 2E | 3 tests |
Autosomal recessive limb-girdle muscular dystrophy type 2F | 4 tests |
Autosomal recessive limb-girdle muscular dystrophy type 2G | 3 tests |
Autosomal recessive limb-girdle muscular dystrophy type 2I | 2 tests |
Autosomal recessive limb-girdle muscular dystrophy type 2J | 2 tests |
Autosomal recessive limb-girdle muscular dystrophy type 2K | 2 tests |
Autosomal recessive limb-girdle muscular dystrophy type 2L | 3 tests |
Autosomal recessive limb-girdle muscular dystrophy type 2M | 3 tests |
Autosomal recessive limb-girdle muscular dystrophy type 2N | 3 tests |
Autosomal recessive limb-girdle muscular dystrophy type 2O | 1 test |
Autosomal recessive limb-girdle muscular dystrophy type 2P | 1 test |
Autosomal recessive limb-girdle muscular dystrophy type 2Q | 1 test |
Autosomal recessive nonsyndromic hearing loss 1A | 1 test |
Autosomal recessive optic atrophy, OPA7 type | 1 test |
Autosomal recessive polycystic kidney disease | 1 test |
Azorean disease | 1 test |
Bannayan-Riley-Ruvalcaba syndrome | 3 tests |
Bardet-Biedl syndrome | 1 test |
Bardet-Biedl syndrome 10 | 1 test |
Bardet-Biedl syndrome 11 | 2 tests |
Bardet-Biedl syndrome 12 | 1 test |
Bardet-Biedl syndrome 13 | 1 test |
Bardet-Biedl syndrome 2 | 1 test |
Bardet-Biedl syndrome 6 | 1 test |
Bardet-Biedl syndrome 9 | 1 test |
Becker muscular dystrophy | 1 test |
Beckwith-Wiedemann syndrome | 2 tests |
Body skin hyperlaxity due to vitamin K-dependent coagulation factor deficiency | 1 test |
Brugada syndrome 1 | 3 tests |
Brugada syndrome 2 | 2 tests |
Brugada syndrome 3 | 2 tests |
Brugada syndrome 4 | 2 tests |
Brugada syndrome 5 | 2 tests |
Brugada syndrome 6 | 2 tests |
Brugada syndrome 7 | 2 tests |
Brugada syndrome 8 | 2 tests |
Brugada syndrome 9 | 1 test |
CFTR-related disorder | 1 test |
CLOVES syndrome | 1 test |
CYP2C19-related poor drug metabolism | 1 test |
Carcinoma of colon | 2 tests |
Carcinoma of pancreas | 5 tests |
Cardiac arrhythmia, ankyrin-B-related | 2 tests |
Cardiofaciocutaneous syndrome 2 | 2 tests |
Cardiomyopathy, familial restrictive, 1 | 1 test |
Cardiomyopathy, familial restrictive, 3 | 2 tests |
Catecholaminergic polymorphic ventricular tachycardia 1 | 1 test |
Catecholaminergic polymorphic ventricular tachycardia 2 | 2 tests |
Catecholaminergic polymorphic ventricular tachycardia 4 | 2 tests |
Catecholaminergic polymorphic ventricular tachycardia 5 | 2 tests |
Caveolinopathy | 1 test |
Cerebral amyloid angiopathy, APP-related | 1 test |
Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1 | 2 tests |
Charcot-Marie-Tooth disease X-linked dominant 1 | 1 test |
Charcot-Marie-Tooth disease dominant intermediate B | 1 test |
Charcot-Marie-Tooth disease dominant intermediate D | 2 tests |
Charcot-Marie-Tooth disease type 1B | 2 tests |
Charcot-Marie-Tooth disease type 1C | 1 test |
Charcot-Marie-Tooth disease type 1D | 2 tests |
Charcot-Marie-Tooth disease type 1E | 1 test |
Charcot-Marie-Tooth disease type 1F | 2 tests |
Charcot-Marie-Tooth disease type 2A2 | 1 test |
Charcot-Marie-Tooth disease type 2B1 | 2 tests |
Charcot-Marie-Tooth disease type 2E | 2 tests |
Charcot-Marie-Tooth disease type 2I | 2 tests |
Charcot-Marie-Tooth disease type 2J | 2 tests |
Charcot-Marie-Tooth disease type 4E | 2 tests |
Charcot-Marie-Tooth disease, type IA | 1 test |
Childhood apraxia of speech | 1 test |
Childhood onset GLUT1 deficiency syndrome 2 | 2 tests |
Chromosome 1p36 deletion syndrome | 1 test |
Classic homocystinuria | 1 test |
Colchicine resistance | 1 test |
Coloboma of optic nerve | 1 test |
Congenital bilateral absence of vas deferens | 1 test |
Congenital contractural arachnodactyly | 1 test |
Congenital muscular dystrophy due to LMNA mutation | 1 test |
Congenital ocular coloboma | 1 test |
Conotruncal anomaly face syndrome | 1 test |
Costello syndrome | 3 tests |
Cowden syndrome 1 | 2 tests |
Cowden syndrome 5 | 1 test |
Cranioectodermal dysplasia 4 | 1 test |
Crouzon syndrome-acanthosis nigricans syndrome | 1 test |
Cystic fibrosis | 1 test |
DFNA 3 Nonsyndromic Hearing Loss and Deafness | 1 test |
Deficiency of butyrylcholinesterase | 1 test |
Deficiency of ferroxidase | 1 test |
Dejerine-Sottas disease | 3 tests |
Desmin-related myofibrillar myopathy | 3 tests |
Developmental and epileptic encephalopathy, 11 | 1 test |
Developmental and epileptic encephalopathy, 2 | 1 test |
Developmental and epileptic encephalopathy, 7 | 1 test |
Developmental and epileptic encephalopathy, 9 | 1 test |
DiGeorge syndrome | 1 test |
Diabetes insipidus, nephrogenic, X-linked | 1 test |
Diabetes mellitus, transient neonatal, 1 | 1 test |
Diabetes-deafness syndrome maternally transmitted | 1 test |
Dilated cardiomyopathy 1A | 3 tests |
Dilated cardiomyopathy 1D | 4 tests |
Dilated cardiomyopathy 1E | 1 test |
Dilated cardiomyopathy 1FF | 1 test |
Dilated cardiomyopathy 1I | 2 tests |
Dilated cardiomyopathy 1L | 2 tests |
Dilated cardiomyopathy 1S | 3 tests |
Dilated cardiomyopathy 1X | 1 test |
Dilated cardiomyopathy 2A | 1 test |
Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome | 1 test |
Disorder due cytochrome p450 CYP2D6 variant | 1 test |
Disorder of cardiovascular system | 1 test |
Distal myopathy with anterior tibial onset | 1 test |
Duchenne muscular dystrophy | 4 tests |
Dystonia 9 | 2 tests |
Early-onset generalized limb-onset dystonia | 1 test |
Ectopia lentis 1, isolated, autosomal dominant | 1 test |
Efavirenz response | 1 test |
Ehlers-Danlos syndrome | 1 test |
Ehlers-Danlos syndrome type 7A | 1 test |
Ehlers-Danlos syndrome type 7B | 1 test |
Ehlers-Danlos syndrome, classic type | 1 test |
Ehlers-Danlos syndrome, classic type, 1 | 1 test |
Ehlers-Danlos syndrome, type 4 | 1 test |
Elliptocytosis 2 | 1 test |
Elliptocytosis 3 | 1 test |
Emery-Dreifuss muscular dystrophy 2, autosomal dominant | 5 tests |
Encephalopathy due to GLUT1 deficiency | 4 tests |
Epidermal nevus | 2 tests |
Episodic ataxia type 1 | 1 test |
Episodic ataxia type 2 | 2 tests |
Fabry disease | 2 tests |
Factor VII deficiency | 1 test |
Familial hypercholesterolemia | 2 tests |
Familial hypocalciuric hypercalcemia 1 | 1 test |
Familial partial lipodystrophy, Dunnigan type | 2 tests |
Febrile seizures, familial, 8 | 1 test |
Fetal akinesia-cerebral and retinal hemorrhage syndrome | 1 test |
Fibromatosis, gingival, 1 | 1 test |
Floating-Harbor syndrome | 3 tests |
Foveal hypoplasia 1 | 1 test |
Fragile X syndrome | 2 tests |
Fragile X-associated tremor/ataxia syndrome | 1 test |
Friedreich ataxia 1 | 3 tests |
Frontotemporal dementia | 1 test |
Fructose-biphosphatase deficiency | 1 test |
GRN-related frontotemporal lobar degeneration with Tdp43 inclusions | 1 test |
Gastrointestinal stromal tumor | 2 tests |
Gaucher disease | 1 test |
Generalized epilepsy with febrile seizures plus, type 1 | 1 test |
Gillespie syndrome | 1 test |
Gnathodiaphyseal dysplasia | 1 test |
Hb SS disease | 1 test |
Heart-hand syndrome, Slovenian type | 1 test |
Hemochromatosis type 1 | 1 test |
Hemochromatosis type 2A | 1 test |
Hemochromatosis type 2B | 1 test |
Hemochromatosis type 3 | 1 test |
Hemochromatosis type 4 | 1 test |
Hemoglobin Bart hydrops syndrome | 1 test |
Hemoglobin E | 1 test |
Hemoglobin H disease | 1 test |
Hemosiderosis, systemic, due to aceruloplasminemia | 1 test |
Hepatocellular carcinoma | 1 test |
Hereditary acrodermatitis enteropathica | 1 test |
Hereditary antithrombin deficiency | 1 test |
Hereditary diffuse gastric adenocarcinoma | 1 test |
Hereditary elliptocytosis | 2 tests |
Hereditary fructosuria | 1 test |
Hereditary hyperferritinemia with congenital cataracts | 1 test |
Hereditary liability to pressure palsies | 1 test |
Hereditary palmoplantar keratoderma | 2 tests |
Hereditary pancreatitis | 1 test |
Hereditary spherocytosis | 1 test |
Hereditary spherocytosis type 2 | 1 test |
Hereditary spherocytosis type 3 | 1 test |
Hereditary spherocytosis type 4 | 1 test |
Hereditary von Willebrand disease | 1 test |
Huntington disease | 1 test |
Hutchinson-Gilford syndrome | 1 test |
Hypercholesterolemia, autosomal dominant, 3 | 1 test |
Hypercholesterolemia, autosomal dominant, type B | 1 test |
Hypercholesterolemia, familial, 1 | 3 tests |
Hypercholesterolemia, familial, 4 | 1 test |
Hypertrophic cardiomyopathy 1 | 3 tests |
Hypertrophic cardiomyopathy 2 | 2 tests |
Hypertrophic cardiomyopathy 25 | 1 test |
Hypertrophic cardiomyopathy 4 | 2 tests |
Hypertrophic cardiomyopathy 7 | 1 test |
Hypochondroplasia | 1 test |
IMAGe syndrome | 1 test |
Ichthyosis, hystrix-like, with hearing loss | 2 tests |
Inflammatory bowel disease 1 | 1 test |
Inflammatory bowel disease 13 | 1 test |
Irido-corneo-trabecular dysgenesis | 1 test |
Isolated optic nerve hypoplasia | 1 test |
Kartagener syndrome | 7 tests |
Kennedy disease | 1 test |
Ketoacidosis due to monocarboxylate transporter-1 deficiency | 1 test |
Kugelberg-Welander disease | 2 tests |
Langer mesomelic dysplasia syndrome | 1 test |
Large congenital melanocytic nevus | 1 test |
Leber optic atrophy | 1 test |
Left ventricular noncompaction 10 | 1 test |
Leri-Weill dyschondrosteosis | 1 test |
Lethal tight skin contracture syndrome | 1 test |
Limb-girdle muscular dystrophy due to POMK deficiency | 1 test |
Linear nevus sebaceous syndrome | 5 tests |
Loeys-Dietz syndrome 1 | 1 test |
Loeys-Dietz syndrome 2 | 1 test |
Long QT syndrome 1 | 3 tests |
Long QT syndrome 10 | 2 tests |
Long QT syndrome 11 | 2 tests |
Long QT syndrome 12 | 2 tests |
Long QT syndrome 13 | 2 tests |
Long QT syndrome 14 | 1 test |
Long QT syndrome 15 | 1 test |
Long QT syndrome 2 | 3 tests |
Long QT syndrome 3 | 1 test |
Long QT syndrome 5 | 3 tests |
Long QT syndrome 6 | 2 tests |
Long QT syndrome 9 | 2 tests |
Loricrin keratoderma | 2 tests |
Lung carcinoma | 3 tests |
Lynch syndrome 1 | 1 test |
MASA syndrome | 1 test |
MASS syndrome | 1 test |
MELAS syndrome | 1 test |
MTHFR THERMOLABILE POLYMORPHISM | 1 test |
MYH7-related skeletal myopathy | 2 tests |
Macrocephaly-autism syndrome | 4 tests |
Malan overgrowth syndrome | 1 test |
Malignant tumor of testis | 2 tests |
Malignant tumor of urinary bladder | 1 test |
Mandibuloacral dysplasia | 1 test |
Mandibuloacral dysplasia with type A lipodystrophy | 1 test |
Marfan syndrome | 1 test |
Marshall-Smith syndrome | 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 |
Maturity-onset diabetes of the young type 4 | 1 test |
Meckel syndrome, type 1 | 1 test |
Medium-chain acyl-coenzyme A dehydrogenase deficiency | 1 test |
Megalencephaly-capillary malformation-polymicrogyria syndrome | 1 test |
Melanoma and neural system tumor syndrome | 1 test |
Melanoma, cutaneous malignant, susceptibility to, 1 | 1 test |
Melanoma, cutaneous malignant, susceptibility to, 2 | 1 test |
Melanoma, cutaneous malignant, susceptibility to, 3 | 2 tests |
Melanoma-pancreatic cancer syndrome | 1 test |
Metachromatic leukodystrophy | 1 test |
Microcephaly 5, primary, autosomal recessive | 2 tests |
Microvascular complications of diabetes, susceptibility to, 5 | 1 test |
Microvascular complications of diabetes, susceptibility to, 6 | 1 test |
Migraine, familial hemiplegic, 1 | 2 tests |
Migraine, familial hemiplegic, 2 | 2 tests |
Migraine, familial hemiplegic, 3 | 2 tests |
Miller Dieker syndrome | 2 tests |
Miyoshi muscular dystrophy 1 | 1 test |
Miyoshi muscular dystrophy 3 | 1 test |
Muenke syndrome | 1 test |
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 | 1 test |
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5 | 1 test |
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9 | 1 test |
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12 | 1 test |
Muscular dystrophy-dystroglycanopathy (congenital without intellectual disability), type B4 | 1 test |
Muscular dystrophy-dystroglycanopathy type B5 | 1 test |
Myofibrillar myopathy 3 | 2 tests |
Myosin storage myopathy | 2 tests |
Myotonic dystrophy type 2 | 2 tests |
Neonatal severe primary hyperparathyroidism | 1 test |
Neoplasm of stomach | 1 test |
Nephrogenic syndrome of inappropriate antidiuresis | 1 test |
Neurocutaneous melanocytosis | 1 test |
Neurodegeneration with brain iron accumulation | 2 tests |
Neuroferritinopathy | 1 test |
Neurofibromatosis, type 1 | 1 test |
Neurofibromatosis, type 2 | 1 test |
Neurogenic scapuloperoneal syndrome, Kaeser type | 1 test |
Nonpersistence of intestinal lactase | 1 test |
Noonan syndrome 1 | 1 test |
Noonan syndrome 3 | 2 tests |
Noonan syndrome 4 | 1 test |
Noonan syndrome 5 | 1 test |
Noonan syndrome 6 | 2 tests |
Obesity | 1 test |
Obesity due to congenital leptin deficiency | 1 test |
Obesity due to leptin receptor gene deficiency | 1 test |
Obesity due to pro-opiomelanocortin deficiency | 2 tests |
Oculopharyngeal muscular dystrophy | 2 tests |
Optic atrophy 3 | 1 test |
Optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy | 1 test |
Osteogenesis imperfecta | 1 test |
Ovarian neoplasm | 1 test |
Panic disorder 1 | 1 test |
Paternal uniparental disomy of chromosome 14 | 1 test |
Pendred syndrome | 1 test |
Peutz-Jeghers syndrome | 3 tests |
Phelan-McDermid syndrome | 1 test |
Pigmentary pallidal degeneration | 1 test |
Pitt-Hopkins-like syndrome 2 | 2 tests |
Platelet-type bleeding disorder 9 | 1 test |
Polycystic kidney disease 2 | 4 tests |
Polycystic kidney disease, adult type | 3 tests |
Potocki-Lupski syndrome | 1 test |
Prader-Willi syndrome | 1 test |
Premature ovarian failure 1 | 1 test |
Primary ciliary dyskinesia | 7 tests |
Primary ciliary dyskinesia 10 | 1 test |
Primary ciliary dyskinesia 11 | 1 test |
Primary ciliary dyskinesia 12 | 1 test |
Primary ciliary dyskinesia 14 | 1 test |
Primary ciliary dyskinesia 15 | 1 test |
Primary ciliary dyskinesia 3 | 1 test |
Primary ciliary dyskinesia 7 | 1 test |
Primary ciliary dyskinesia 9 | 1 test |
Prion disease | 1 test |
Progressive familial heart block type IB | 2 tests |
Pyropoikilocytosis, hereditary | 1 test |
Renal cysts and diabetes syndrome | 2 tests |
Rett syndrome | 3 tests |
Rippling muscle disease 2 | 3 tests |
Rubinstein-Taybi syndrome due to CREBBP mutations | 3 tests |
Rubinstein-Taybi syndrome due to EP300 haploinsufficiency | 3 tests |
SHOX-related short stature | 1 test |
Sarcotubular myopathy | 3 tests |
Schizophrenia | 1 test |
Seborrheic keratosis | 1 test |
Seizures, benign familial infantile, 3 | 1 test |
Seizures, benign familial neonatal, 1 | 1 test |
Seizures, benign familial neonatal, 2 | 2 tests |
Severe achondroplasia-developmental delay-acanthosis nigricans syndrome | 1 test |
Severe myoclonic epilepsy in infancy | 2 tests |
Severe neonatal-onset encephalopathy with microcephaly | 2 tests |
Short QT syndrome type 1 | 1 test |
Short QT syndrome type 2 | 1 test |
Short QT syndrome type 3 | 2 tests |
Shprintzen-Goldberg syndrome | 1 test |
Shwachman-Diamond syndrome 1 | 1 test |
Sick sinus syndrome 1 | 1 test |
Sick sinus syndrome 2, autosomal dominant | 1 test |
Sickle cell-Hemoglobin O Arab disease | 1 test |
Sickle cell-beta-thalassemia | 1 test |
Sickle cell-hemoglobin C disease | 1 test |
Sickle cell-hemoglobin D disease | 1 test |
Silver-Russell syndrome 1 | 3 tests |
Silver-Russell syndrome due to an imprinting defect of 11p15 | 1 test |
Slow acetylator due to N-acetyltransferase enzyme variant | 1 test |
Smith-Magenis syndrome | 2 tests |
Sotos syndrome | 2 tests |
Southeast Asian ovalocytosis | 1 test |
Spinal muscular atrophy, type II | 2 tests |
Spinal muscular atrophy, type IV | 2 tests |
Spinocerebellar ataxia 7 | 1 test |
Spinocerebellar ataxia type 1 | 1 test |
Spinocerebellar ataxia type 12 | 1 test |
Spinocerebellar ataxia type 17 | 1 test |
Spinocerebellar ataxia type 19/22 | 2 tests |
Spinocerebellar ataxia type 2 | 1 test |
Spinocerebellar ataxia type 6 | 1 test |
Spinocerebellar ataxia type 8 | 1 test |
Squamous cell carcinoma of the head and neck | 1 test |
Steinert myotonic dystrophy syndrome | 2 tests |
Syndromic X-linked intellectual disability Lubs type | 2 tests |
Thanatophoric dysplasia type 1 | 1 test |
Thanatophoric dysplasia, type 2 | 1 test |
Thrombophilia due to activated protein C resistance | 1 test |
Thrombophilia due to protein C deficiency, autosomal dominant | 1 test |
Thrombophilia due to protein S deficiency, autosomal dominant | 1 test |
Thrombophilia due to thrombin defect | 1 test |
Thyroid cancer, nonmedullary, 2 | 2 tests |
Timothy syndrome | 1 test |
Transcription level of plasminogen activator inhibitor 1 | 1 test |
VACTERL with hydrocephalus | 2 tests |
Velocardiofacial syndrome | 1 test |
Ventricular fibrillation, paroxysmal familial, 2 | 1 test |
Vitamin K-dependent clotting factors, combined deficiency of, type 1 | 1 test |
Vitamin K-dependent clotting factors, combined deficiency of, type 2 | 1 test |
Von Willebrand disease type 2A | 1 test |
Von Willebrand disease type 2B | 1 test |
Warfarin response | 1 test |
Werdnig-Hoffmann disease | 2 tests |
Williams syndrome | 1 test |
Wilson disease | 1 test |
X-linked Emery-Dreifuss muscular dystrophy | 1 test |
X-linked complicated corpus callosum dysgenesis | 1 test |
X-linked hydrocephalus syndrome | 1 test |
X-linked ichthyosis with steryl-sulfatase deficiency | 2 tests |
X-linked intellectual disability-psychosis-macroorchidism syndrome | 2 tests |
alpha Thalassemia | 1 test |
beta Thalassemia | 1 test |
von Willebrand disease type 1 | 1 test |
von Willebrand disease type 2 | 1 test |
von Willebrand disease type 2M | 1 test |
von Willebrand disease type 2N | 1 test |
von Willebrand disease type 3 | 1 test |