Department of Medical Genetics
(Oslo University Hospital), AMG, OUS
General information
Department of Medical Genetics, AMG, OUS
Oslo University Hospital
Oslo
Norway - 0450
Organization ID: 505260
Assertion criteria
Level: Assertion criteria provided
Summary of submissions to ClinVar
Total submissions: 276
Gene
| Gene | Submissions | Last Updated |
|---|
| AHDC1 | 2 | Sep 16, 2020 |
| ASXL3 | 1 | Sep 16, 2020 |
| BRCA1 | 114 | Sep 5, 2017 |
| BRCA2 | 88 | Oct 18, 2017 |
| CBY1 | 2 | Aug 21, 2020 |
| CDK13 | 1 | Sep 16, 2020 |
| CHD7 | 1 | Sep 16, 2020 |
| CHRNB2 | 1 | Dec 22, 2014 |
| DUSP29 | 1 | Sep 16, 2020 |
| EFNB1 | 4 | Sep 16, 2020 |
| EHMT1 | 1 | Sep 16, 2020 |
| ERF | 1 | Sep 16, 2020 |
| FBXL4 | 1 | Apr 6, 2016 |
| FGFR2 | 8 | Sep 16, 2020 |
| FGFR3 | 2 | Sep 16, 2020 |
| IFT122 | 1 | Sep 16, 2020 |
| IGHMBP2 | 6 | Oct 21, 2015 |
| IL11RA | 2 | Sep 16, 2020 |
| KAT6B | 1 | Sep 16, 2020 |
| KLF1 | 8 | Feb 27, 2014 |
| KMT2D | 2 | Sep 27, 2021 |
| LOC117125591 | 6 | Feb 27, 2014 |
| LOC117125592 | 1 | Feb 27, 2014 |
| LOC126862571 | 21 | Sep 5, 2017 |
| LOC129998021 | 2 | Sep 16, 2020 |
| LOC130063673 | 1 | Feb 27, 2014 |
| LPAR6 | 1 | Oct 27, 2015 |
| MAN2B1 | 1 | Sep 16, 2020 |
| MED12 | 1 | Apr 15, 2016 |
| NFIX | 1 | Sep 16, 2020 |
| PDE6H | 1 | Oct 27, 2015 |
| PEX5 | 1 | May 15, 2015 |
| RB1 | 1 | Oct 27, 2015 |
| SRCAP | 1 | Sep 16, 2020 |
| STIM1 | 1 | Feb 18, 2014 |
| TCF12 | 1 | Sep 16, 2020 |
| TWIST1 | 6 | Sep 16, 2020 |
| UBE3B | 1 | Oct 21, 2014 |
| ZIC1 | 1 | Sep 16, 2020 |
Condition
| Name | Submissions | Last Updated | | 2q24 microdeletion syndrome | 1 | Sep 16, 2020 |
| 5q35 microduplication syndrome | 1 | Sep 16, 2020 |
| AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome | 2 | Sep 16, 2020 |
| Acrocephalosyndactyly type I | 2 | Sep 16, 2020 |
| Autosomal recessive distal spinal muscular atrophy 1 | 3 | Oct 21, 2015 |
| BLOOD GROUP--LUTHERAN INHIBITOR | 2 | Jul 28, 2013 |
| Beare-Stevenson cutis gyrata syndrome | 1 | Sep 16, 2020 |
| Breast-ovarian cancer, familial, susceptibility to, 1 | 114 | Sep 5, 2017 |
| Breast-ovarian cancer, familial, susceptibility to, 2 | 88 | Oct 18, 2017 |
| CHARGE syndrome | 1 | Sep 16, 2020 |
| Cat eye syndrome | 1 | Sep 16, 2020 |
| Charcot-Marie-Tooth disease axonal type 2S | 3 | Oct 21, 2015 |
| Chromosome 1p32-p31 deletion syndrome | 1 | Sep 16, 2020 |
| Chromosome 22q11.2 microduplication syndrome | 1 | Sep 16, 2020 |
| Chromosome 2q37 deletion syndrome | 1 | Sep 16, 2020 |
| Chromosome 9p deletion syndrome | 2 | Sep 16, 2020 |
| Congenital dyserythropoietic anemia type 4 | 2 | Jul 28, 2013 |
| Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder | 1 | Sep 16, 2020 |
| Cranioectodermal dysplasia 1 | 1 | Sep 16, 2020 |
| Craniofrontonasal syndrome | 4 | Sep 16, 2020 |
| Craniosynostosis 4 | 1 | Sep 16, 2020 |
| Craniosynostosis 6 | 1 | Sep 16, 2020 |
| Craniosynostosis and dental anomalies | 2 | Sep 16, 2020 |
| Crouzon syndrome | 4 | Sep 16, 2020 |
| Crouzon syndrome-acanthosis nigricans syndrome | 1 | Sep 16, 2020 |
| Deficiency of alpha-mannosidase | 1 | Sep 16, 2020 |
| Deletion 6q16 q21 | 1 | Sep 16, 2020 |
| Diamond-Blackfan anemia 6 | 1 | Sep 16, 2020 |
| Distal 17p13.3 microdeletion syndrome | 1 | Sep 16, 2020 |
| FETAL HEMOGLOBIN QUANTITATIVE TRAIT LOCUS 6 | 2 | Jul 28, 2013 |
| FG syndrome 1 | 1 | Apr 15, 2016 |
| Familial aplasia of the vermis | 2 | Aug 21, 2020 |
| Floating-Harbor syndrome | 1 | Sep 16, 2020 |
| Generalized-onset seizure | 1 | Dec 22, 2014 |
| Genitopatellar syndrome | 1 | Sep 16, 2020 |
| Hypotrichosis 8 | 1 | Oct 27, 2015 |
| Kabuki syndrome 1 | 2 | Sep 27, 2021 |
| Kleefstra syndrome 1 | 1 | Sep 16, 2020 |
| Malan overgrowth syndrome | 1 | Sep 16, 2020 |
| Mitochondrial DNA depletion syndrome 13 | 1 | Apr 6, 2016 |
| Muenke syndrome | 1 | Sep 16, 2020 |
| Oculocerebrofacial syndrome, Kaufman type | 1 | Oct 21, 2014 |
| Pfeiffer syndrome | 1 | Sep 16, 2020 |
| Retinal cone dystrophy 3A | 1 | Oct 27, 2015 |
| Rhizomelic chondrodysplasia punctata | 1 | May 15, 2015 |
| Saethre-Chotzen syndrome | 7 | Sep 16, 2020 |
| Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome | 1 | Sep 16, 2020 |
| Silver-Russell syndrome 1 | 1 | Sep 16, 2020 |
| Stormorken syndrome | 1 | Feb 18, 2014 |
| TCF12-related craniosynostosis | 1 | Sep 16, 2020 |
| not provided | 6 | Feb 27, 2014 |
