ClinVar Miner

Variants from Institute of Immunology and Genetics Kaiserslautern

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
26 17 22 0 0 65

Gene and significance breakdown #

Total genes and gene combinations: 55
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Gene or gene combination pathogenic likely pathogenic uncertain significance total
SCN5A 0 2 1 3
BRCA1 1 0 1 2
MYO5A 0 0 2 2
OPA1 1 1 0 2
PEX6 2 0 0 2
PKD1 0 1 1 2
SERPINA1 2 0 0 2
SLC22A5 1 0 1 2
SORD 2 0 0 2
ABCB4 0 1 0 1
ACTA1 0 0 1 1
ADAMTS13 0 1 0 1
AP4B1 0 0 1 1
BRIP1 1 0 0 1
CHD2 0 1 0 1
CHD3 0 0 1 1
COL1A2 0 0 1 1
CREBBP 1 0 0 1
DVL1 1 0 0 1
DYRK1A 0 1 0 1
FLNC 0 0 1 1
FTSJ1 0 0 1 1
GJB1 0 1 0 1
HFE 1 0 0 1
IQSEC2 1 0 0 1
ITGA7 0 1 0 1
JMJD8, STUB1 0 0 1 1
KCNQ5 0 1 0 1
LDLR 0 1 0 1
LMNA 0 0 1 1
LZTR1 1 0 0 1
MECP2 0 0 1 1
MYO6 0 1 0 1
NALCN 0 0 1 1
NSD1 1 0 0 1
NSDHL 0 0 1 1
PALB2 0 0 1 1
RAB33B 0 0 1 1
RAD51C 1 0 0 1
RUBCN 1 0 0 1
SATB1 0 0 1 1
SATB2 0 1 0 1
SCAF4 0 1 0 1
SCN11A 0 0 1 1
SCN1A 1 0 0 1
SCN2A 1 0 0 1
SHANK2 1 0 0 1
SMARCA2 0 1 0 1
SMC1A 1 0 0 1
SON 0 1 0 1
SOX5 1 0 0 1
TNNT2 0 0 1 1
TSEN54 1 0 0 1
TTN 1 0 0 1
VWF 1 0 0 1

Condition and significance breakdown #

Total conditions: 58
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Condition pathogenic likely pathogenic uncertain significance total
Alpha-1-antitrypsin deficiency 2 0 0 2
Breast-ovarian cancer, familial, susceptibility to, 1 1 0 1 2
Brugada syndrome 1 0 2 0 2
Griscelli syndrome type 1 0 0 2 2
Neuronopathy, distal hereditary motor, autosomal recessive 8 2 0 0 2
Peroxisome biogenesis disorder 4A (Zellweger); Peroxisome biogenesis disorder 4B; Heimler syndrome 2 2 0 0 2
Polycystic kidney disease, adult type 0 1 1 2
Renal carnitine transport defect 1 0 1 2
Actin accumulation myopathy 0 0 1 1
Actin accumulation myopathy; Progressive scapulohumeroperoneal distal myopathy; Congenital myopathy 2c, severe infantile, autosomal dominant 0 0 1 1
Autism, susceptibility to, 17 1 0 0 1
Autosomal dominant Robinow syndrome 2 1 0 0 1
Autosomal dominant nonsyndromic hearing loss 22 0 1 0 1
Autosomal dominant optic atrophy classic form 1 0 0 1
Autosomal recessive spinocerebellar ataxia 15 1 0 0 1
Breast-ovarian cancer, familial, susceptibility to, 3 1 0 0 1
CK syndrome 0 0 1 1
Charcot-Marie-Tooth disease X-linked dominant 1 0 1 0 1
Chromosome 2q32-q33 deletion syndrome 0 1 0 1
Combined osteogenesis imperfecta and Ehlers-Danlos syndrome 2 0 0 1 1
Congenital muscular dystrophy due to integrin alpha-7 deficiency 0 1 0 1
Congenital muscular hypertrophy-cerebral syndrome; Developmental and epileptic encephalopathy, 85, with or without midline brain defects 1 0 0 1
DYRK1A-related intellectual disability syndrome 0 1 0 1
Developmental and epileptic encephalopathy 94 0 1 0 1
Developmental and epileptic encephalopathy, 11 1 0 0 1
Developmental delay with dysmorphic facies and dental anomalies 0 0 1 1
Dilated cardiomyopathy 1A 0 0 1 1
Dilated cardiomyopathy 1D 0 0 1 1
Dilated cardiomyopathy 1G 1 0 0 1
Familial cancer of breast 1 0 0 1
Fanconi anemia complementation group N; Pancreatic cancer, susceptibility to, 3; Breast-ovarian cancer, familial, susceptibility to, 5 0 0 1 1
Fliedner-Zweier syndrome 0 1 0 1
Hemochromatosis type 1 1 0 0 1
Hereditary sensory and autonomic neuropathy type 7 0 0 1 1
Hereditary spastic paraplegia 47 0 0 1 1
Hypercholesterolemia, familial, 1 0 1 0 1
Hypertrophic cardiomyopathy 26 0 0 1 1
Hypotonia, infantile, with psychomotor retardation and characteristic facies 1 0 0 1 1
Intellectual disability, X-linked 1 1 0 0 1
Intellectual disability, X-linked 9 0 0 1 1
Intellectual disability, autosomal dominant 46 0 1 0 1
Lamb-Shaffer syndrome 1 0 0 1
Long QT syndrome 3 0 0 1 1
Low phospholipid associated cholelithiasis; Cholestasis, intrahepatic, of pregnancy, 3 0 1 0 1
Migraine, familial hemiplegic, 3; Severe myoclonic epilepsy in infancy; Generalized epilepsy with febrile seizures plus, type 2; Developmental and epileptic encephalopathy 6B 1 0 0 1
Nicolaides-Baraitser syndrome 0 1 0 1
Optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy; Autosomal dominant optic atrophy classic form 0 1 0 1
Pontocerebellar hypoplasia type 2A 1 0 0 1
Rett syndrome 0 0 1 1
Rubinstein-Taybi syndrome due to CREBBP mutations 1 0 0 1
Schwannomatosis 2 1 0 0 1
Smith-McCort dysplasia 2 0 0 1 1
Snijders Blok-Campeau syndrome 0 0 1 1
Sotos syndrome 1 0 0 1
Spinocerebellar ataxia 48 0 0 1 1
Upshaw-Schulman syndrome 0 1 0 1
ZTTK syndrome 0 1 0 1
von Willebrand disease type 1 1 0 0 1

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