ClinVar Miner

Variants from Genomics Facility, Ludwig-Maximilians-Universität München

Location: Germany  Primary collection method: clinical testing
Minimum submission review status: Collection method:
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Gene type:
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If a variant has more than one submission, it may be counted in more than one significance column. If this is the case, the total number of variants will be less than the sum of the other cells.

pathogenic likely pathogenic uncertain significance likely benign benign total
35 29 1 0 1 66

Gene and significance breakdown #

Total genes and gene combinations: 53
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Gene or gene combination pathogenic likely pathogenic uncertain significance benign total
FCHO1 6 0 0 0 6
ELANE 3 0 0 0 3
CYBB 1 1 0 0 2
HAX1 2 0 0 0 2
JAK3 1 1 0 0 2
RAB27A 2 0 0 0 2
TLR8 1 0 1 0 2
WAS 2 0 0 0 2
ACTG2 0 1 0 0 1
ADA 1 0 0 0 1
ADA2 1 0 0 0 1
AP1B1 0 1 0 0 1
BLM 1 0 0 0 1
BTK 1 0 0 0 1
CARMIL2 0 1 0 0 1
CD27 0 1 0 0 1
COQ2 0 1 0 0 1
CTPS2 0 0 0 1 1
CXCR2 0 1 0 0 1
DNAH11 0 1 0 0 1
DNASE1L3 0 1 0 0 1
DOCK8 1 0 0 0 1
EPCAM 0 1 0 0 1
EPG5 1 0 0 0 1
FAS 0 1 0 0 1
FOXN1 0 1 0 0 1
G6PC3 0 1 0 0 1
GPD1 1 0 0 0 1
HBB, LOC106099062, LOC107133510 1 0 0 0 1
ICOSLG 0 1 0 0 1
IGH, IGHM 0 1 0 0 1
IL12RB1 1 0 0 0 1
JAGN1 1 0 0 0 1
LIG4 0 1 0 0 1
LPIN2 0 1 0 0 1
NDP 0 1 0 0 1
NR1H4 0 1 0 0 1
PLCG2 0 1 0 0 1
PRF1 1 0 0 0 1
RAG1 0 1 0 0 1
RAG2 1 0 0 0 1
RSPH1 0 1 0 0 1
SBDS 0 1 0 0 1
SRP19 1 0 0 0 1
SRPRA 1 0 0 0 1
STAT1 0 1 0 0 1
TAP1 0 1 0 0 1
TCIRG1 1 0 0 0 1
TPI1 0 1 0 0 1
VPS13B 1 0 0 0 1
VPS45 0 1 0 0 1
XIAP 1 0 0 0 1
ZNF341 0 1 0 0 1

Condition and significance breakdown #

Total conditions: 54
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Condition pathogenic likely pathogenic uncertain significance benign total
Severe congenital neutropenia 6 0 0 0 6
Neutropenia, severe congenital, 1, autosomal dominant 3 0 0 0 3
Autoimmune hemolytic anemia; Systemic autoinflammation 1 0 1 0 2
Granulomatous disease, chronic, X-linked 1 1 0 0 2
Griscelli syndrome type 2 2 0 0 0 2
Kostmann syndrome 2 0 0 0 2
Shwachman-Diamond syndrome 1; Severe congenital neutropenia 2 0 0 0 2
T-B+ severe combined immunodeficiency due to JAK3 deficiency 1 1 0 0 2
Atrophia bulborum hereditaria 0 1 0 0 1
Autoimmune lymphoproliferative syndrome type 1 0 1 0 0 1
Autosomal recessive agammaglobulinemia 1 0 1 0 0 1
Autosomal recessive keratitis-ichthyosis-deafness syndrome 0 1 0 0 1
Autosomal recessive osteopetrosis 1 1 0 0 0 1
Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency 0 1 0 0 1
Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency 1 0 0 0 1
Autosomal systemic lupus erythematosus type 16 0 1 0 0 1
Bloom syndrome 1 0 0 0 1
CYTIDINE 5-PRIME TRIPHOSPHATE SYNTHETASE 2 deficiency 0 0 0 1 1
Cholestasis, progressive familial intrahepatic, 5 0 1 0 0 1
Coenzyme Q10 deficiency, primary, 1 0 1 0 0 1
Cohen syndrome 1 0 0 0 1
Combined immunodeficiency 0 1 0 0 1
Combined immunodeficiency due to DOCK8 deficiency 1 0 0 0 1
Congenital diarrhea 5 with tufting enteropathy 0 1 0 0 1
Congenital neutropenia-myelofibrosis-nephromegaly syndrome 0 1 0 0 1
DNA ligase IV deficiency 0 1 0 0 1
Familial cold autoinflammatory syndrome 3 0 1 0 0 1
Familial hemophagocytic lymphohistiocytosis 2 1 0 0 0 1
Hb SS disease 1 0 0 0 1
Histiocytic medullary reticulosis 0 1 0 0 1
Hyper-IgE recurrent infection syndrome 3, autosomal recessive 0 1 0 0 1
Immunodeficiency 31B 0 1 0 0 1
Immunodeficiency with T and B cell lymphopenia 1 0 0 0 1
Lymphoproliferative syndrome 2 0 1 0 0 1
MHC class I deficiency 0 1 0 0 1
Majeed syndrome 0 1 0 0 1
Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency 1 0 0 0 1
Primary ciliary dyskinesia 24 0 1 0 0 1
Primary ciliary dyskinesia 7 0 1 0 0 1
Severe combined immunodeficiency due to CARMIL2 deficiency 0 1 0 0 1
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency 1 0 0 0 1
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive 1 0 0 0 1
Shwachman-Diamond syndrome 1 0 1 0 0 1
T-cell immunodeficiency, congenital alopecia, and nail dystrophy 0 1 0 0 1
Transient infantile hypertriglyceridemia and hepatosteatosis 1 0 0 0 1
Triosephosphate isomerase deficiency 0 1 0 0 1
Vasculitis due to ADA2 deficiency 1 0 0 0 1
Vici syndrome 1 0 0 0 1
Visceral myopathy 1 0 1 0 0 1
WHIM syndrome 2 0 1 0 0 1
Wiskott-Aldrich syndrome 1 0 0 0 1
X-linked agammaglobulinemia 1 0 0 0 1
X-linked lymphoproliferative disease due to XIAP deficiency 1 0 0 0 1
X-linked severe congenital neutropenia 1 0 0 0 1

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