Rare Disease Group, Clinical Genetics (Karolinska Institutet), RDG

General information

Rare Disease Group, Clinical Genetics, RDG
Karolinska Institutet
CMM L8:02
Stockholm
Stockholms Lan
Sweden - 17176
http://ki.se/en/mmk/clinical-genetics
Organization ID: 506202

Assertion criteria

Level: Assertion criteria provided

Summary of submissions to ClinVar

Total submissions: 216

Gene

GeneSubmissionsLast Updated
ACOX11Apr 9, 2019
ADGRL31Apr 9, 2019
ALMS11Sep 10, 2018
ANKRD111Apr 9, 2019
ATP1A11Mar 6, 2019
ATP1A1-AS11Mar 6, 2019
ATXN71Apr 26, 2019
B9D12Apr 9, 2019
BBS91Apr 9, 2019
BRCA21Apr 9, 2019
C2CD32May 31, 2018
CAMTA11Dec 17, 2018
CCDC391May 31, 2018
CEP632May 31, 2021
CLN51Apr 9, 2019
COL4A13Mar 9, 2018
COL4A23Apr 12, 2018
CPLANE11May 8, 2018
CYP26A11Apr 12, 2018
CYP26C12Feb 27, 2018
DMD1Apr 9, 2019
DNAH61Apr 9, 2019
DNAI31Jun 19, 2017
DYNC2H123Jul 24, 2019
ECEL12Apr 9, 2019
EVC2May 31, 2018
EVC21May 31, 2018
FANCA1Apr 9, 2019
GALNT141Jun 11, 2018
GDF91Apr 9, 2019
GLDC1Apr 9, 2019
IFT1221May 31, 2018
IFT431May 31, 2018
IFT741Nov 18, 2020
IFT811Jul 3, 2018
IL6ST2Jul 23, 2019
KANK11Apr 9, 2019
KIAA05861May 31, 2018
KIAA07536Jul 25, 2019
KIF71Mar 12, 2019
LAMA21Apr 9, 2019
LZTR12Jul 4, 2018
MATN31Jul 3, 2018
MBD51Apr 9, 2019
MIR1401Aug 2, 2017
MLH11Apr 9, 2019
MTRFR1Apr 9, 2019
NID11Dec 17, 2018
NKX2-11Apr 9, 2019
NSD11Apr 9, 2019
OPA11Feb 27, 2018
PAX61Apr 17, 2018
PNPT13Apr 9, 2019
POLG1Apr 9, 2019
PRDM161Dec 17, 2018
PTEN1Apr 9, 2019
RTTN1Apr 9, 2019
SATB21Apr 9, 2019
SFTA31Apr 9, 2019
SMYD31Dec 17, 2018
SPG71Feb 27, 2018
SPOCK11Apr 9, 2019
SPTA12Apr 9, 2019
TBCK1Apr 9, 2019
TRAF3IP11May 31, 2018
UBE3B1Feb 27, 2018
WDR196May 31, 2018
WDR351May 31, 2018
WDR35-DT1Jul 3, 2018
WDR701May 8, 2018
WWP21Aug 2, 2017
ZIC22Apr 9, 2019

Condition

NameSubmissionsLast Updated
1q24q25 microdeletion syndrome1May 31, 2018
Abnormality of corpus callosum1Apr 9, 2019
Acrocallosal syndrome1Mar 12, 2019
Alstrom syndrome1Sep 10, 2018
Arthrogryphosis1Apr 9, 2019
Arthrogryposis multiplex congenita2Apr 9, 2019
Bladder exstrophy2Jul 4, 2018
Cerebellar ataxia, nonprogressive, with mental retardation7Dec 17, 2018
Choroideremia1Apr 9, 2019
Congenital malrotation of intestine6Jun 11, 2018
Cranioectodermal dysplasia3May 31, 2018
Ellis-van Creveld syndrome6May 31, 2018
Encephalopathy1Apr 9, 2019
Epilepsy5Apr 9, 2019
Global developmental delay3May 8, 2018
Growth abnormality6Apr 9, 2019
Holoprosencephaly sequence1Apr 9, 2019
Hypogonadism with anosmia1Apr 9, 2019
Hypomagnesemia, seizures, and mental retardation 21Mar 6, 2019
Hypoparathyroidism, deafness, renal disease syndrome1Dec 17, 2018
Internal malformations4Apr 9, 2019
Jeune thoracic dystrophy38Nov 18, 2020
Joubert syndrome4Jul 23, 2019
Kidney disease1Apr 9, 2019
Malignant tumor of breast1Apr 9, 2019
Malignant tumor of colon1Apr 9, 2019
Meckel-Gruber syndrome1Apr 9, 2019
Microcephaly1Apr 9, 2019
Multiple epiphyseal dysplasia type 51Jul 3, 2018
Multiple fibrofolliculomas1Apr 9, 2019
Muscle dystrophy2Apr 9, 2019
Muscle weakness1Apr 9, 2019
Neurodevelopmental disorder78Apr 9, 2019
Occipital encephalocele1Jun 19, 2017
Optic nerve hypoplasia13Apr 12, 2018
Optic nerve hypoplasia, bilateral1Apr 17, 2018
Ovarian cancer1Apr 9, 2019
Premature ovarian failure2Apr 9, 2019
Prenatal anemia2Apr 9, 2019
Seckel syndrome 62May 31, 2021
Short-rib thoracic dysplasia 19 with or without polydactyly1Jul 3, 2018
Skeletal dysplasia3Apr 9, 2019
Spinocerebellar ataxia 71Apr 26, 2019
Spondyloepiphyseal dysplasia MIR140 type Nishimura1Aug 2, 2017
Stüve-Wiedemann syndrome2Jul 23, 2019
Tooth agenesis1Apr 9, 2019
Trichorhinophalangeal dysplasia type I3Dec 17, 2018
not specified4May 8, 2018
Support Center