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Genomics Facility (Ludwig-Maximilians-Universität München)

General information

Genomics Facility
Ludwig-Maximilians-Universität München
Lindwurmstr. 4
München
Bayern
Germany - 80337
https://www.ccrc-hauner.de/ccrc
Organization ID: 507363

Assertion criteria

Level: Assertion criteria provided

Summary of submissions to ClinVar

Total submissions: 67

Gene

GeneSubmissionsLast Updated
ACTG21Feb 7, 2022
ADA1Feb 7, 2022
ADA21Feb 7, 2022
AP1B11Feb 7, 2022
BLM1Feb 7, 2022
BTK1Feb 7, 2022
CARMIL21Feb 7, 2022
CD271Feb 7, 2022
CD27-AS11Feb 7, 2022
CFD1Feb 7, 2022
COQ21Feb 7, 2022
CTPS21Feb 8, 2022
CXCR21Feb 7, 2022
CYBB2Feb 7, 2022
DNAH111Feb 7, 2022
DNASE1L31Feb 7, 2022
DOCK81Feb 7, 2022
ELANE3Feb 8, 2022
EPCAM1Feb 7, 2022
EPG51Feb 7, 2022
FAS1Feb 7, 2022
FCHO17Jun 10, 2020
FOXN11Feb 7, 2022
G6PC31Feb 7, 2022
GPD11Feb 7, 2022
HAX12Feb 7, 2022
HBB1Feb 7, 2022
ICOSLG1Feb 7, 2022
IGH1Feb 7, 2022
IGHM1Feb 7, 2022
IL12RB11Feb 7, 2022
JAGN11Feb 7, 2022
JAK32Feb 7, 2022
LIG41Feb 7, 2022
LOC1060990621Feb 7, 2022
LOC1071335101Feb 7, 2022
LPIN21Feb 7, 2022
NDP1Feb 7, 2022
NDP-AS11Feb 7, 2022
NR1H41Feb 7, 2022
PLCG21Feb 7, 2022
PRF11Feb 7, 2022
RAB27A2Feb 7, 2022
RAG11Feb 7, 2022
RAG21Feb 7, 2022
RSPH11Feb 7, 2022
SBDS1Feb 7, 2022
SRP191Jan 17, 2020
SRPRA1Jan 17, 2020
STAT11Feb 7, 2022
TAP11Feb 7, 2022
TCIRG11Feb 7, 2022
TLR82Feb 8, 2022
TLR8-AS12Feb 8, 2022
TPI11Feb 7, 2022
VPS13B1Jun 10, 2020
VPS451Feb 7, 2022
WAS2Feb 7, 2022
XIAP1Feb 7, 2022
ZNF3411Feb 7, 2022

Condition

NameSubmissionsLast Updated
Atrophia bulborum hereditaria1Feb 7, 2022
Autoimmune hemolytic anemia2Feb 8, 2022
Autoimmune lymphoproliferative syndrome type 11Feb 7, 2022
Autosomal recessive agammaglobulinemia 11Feb 7, 2022
Autosomal recessive keratitis-ichthyosis-deafness syndrome1Feb 7, 2022
Autosomal recessive osteopetrosis 11Feb 7, 2022
Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency1Feb 7, 2022
Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency1Feb 7, 2022
Autosomal systemic lupus erythematosus type 161Feb 7, 2022
Bloom syndrome1Feb 7, 2022
CYTIDINE 5-PRIME TRIPHOSPHATE SYNTHETASE 2 deficiency1Feb 8, 2022
Cholestasis, progressive familial intrahepatic, 51Feb 7, 2022
Coenzyme Q10 deficiency, primary, 11Feb 7, 2022
Cohen syndrome1Jun 10, 2020
Combined immunodeficiency1Feb 7, 2022
Combined immunodeficiency due to DOCK8 deficiency1Feb 7, 2022
Congenital diarrhea 5 with tufting enteropathy1Feb 7, 2022
Congenital neutropenia-myelofibrosis-nephromegaly syndrome1Feb 7, 2022
DNA ligase IV deficiency1Feb 7, 2022
Deficiency of adenosine deaminase 21Feb 7, 2022
Familial cold autoinflammatory syndrome 31Feb 7, 2022
Familial hemophagocytic lymphohistiocytosis 21Feb 7, 2022
Granulomatous disease, chronic, X-linked2Feb 7, 2022
Griscelli syndrome type 22Feb 7, 2022
Hb SS disease1Feb 7, 2022
Histiocytic medullary reticulosis1Feb 7, 2022
Hyper-IgE recurrent infection syndrome 3, autosomal recessive1Feb 7, 2022
Immunodeficiency 31B1Feb 7, 2022
Immunodeficiency with T and B cell lymphopenia1Jun 10, 2020
Kostmann syndrome2Feb 7, 2022
Lymphoproliferative syndrome 21Feb 7, 2022
MHC class I deficiency1Feb 7, 2022
Majeed syndrome1Feb 7, 2022
Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency1Feb 7, 2022
Neutropenia, severe congenital, 1, autosomal dominant3Feb 8, 2022
Primary ciliary dyskinesia 241Feb 7, 2022
Primary ciliary dyskinesia 71Feb 7, 2022
Severe combined immunodeficiency due to CARMIL2 deficiency1Feb 7, 2022
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency1Feb 7, 2022
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive1Feb 7, 2022
Severe congenital neutropenia8Jan 17, 2020
Shwachman-Diamond syndrome 13Feb 7, 2022
Systemic autoinflammation2Feb 8, 2022
T-B+ severe combined immunodeficiency due to JAK3 deficiency2Feb 7, 2022
T-cell immunodeficiency, congenital alopecia, and nail dystrophy1Feb 7, 2022
Transient infantile hypertriglyceridemia and hepatosteatosis1Feb 7, 2022
Triosephosphate isomerase deficiency1Feb 7, 2022
Vici syndrome1Feb 7, 2022
Visceral myopathy 11Feb 7, 2022
WHIM syndrome 21Feb 7, 2022
Wiskott-Aldrich syndrome1Feb 7, 2022
X-linked agammaglobulinemia1Feb 7, 2022
X-linked lymphoproliferative disease due to XIAP deficiency1Feb 7, 2022
X-linked severe congenital neutropenia1Feb 7, 2022