ClinVar Miner

Variants from Center for Human Genetics and Laboratory Diagnostics, Dr. Klein, Dr. Rost and Colleagues

Location: Germany — Primary collection method: clinical testing
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:

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
113 94 189 1 0 397

Gene and significance breakdown #

Total genes and gene combinations: 175
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign total
SCN5A 13 6 17 0 36
KCNH2 17 4 8 0 29
KCNQ1 19 4 6 0 29
CACNA1C 1 2 15 0 18
RYR2 1 3 10 0 14
TTN 0 9 1 0 10
PKD1 3 0 6 0 9
CACNA1A 2 1 3 0 6
KCNJ2 2 0 4 0 6
COL1A1 3 0 1 0 4
COL4A5 4 0 0 0 4
SNTA1 0 0 4 0 4
ABCA3 0 0 3 0 3
ADGRV1 0 0 3 0 3
CASQ2 0 0 3 0 3
CFTR 1 1 1 0 3
COL4A3, MFF-DT 0 3 0 0 3
HCN4 0 0 3 0 3
KCNE1 0 1 2 0 3
KCNE2 0 0 3 0 3
KCNQ2 1 2 0 0 3
MYBPC3 1 0 2 0 3
NRXN1 1 0 2 0 3
NSD1 2 0 1 0 3
PCDH19 1 2 0 0 3
SCN10A 0 1 2 0 3
SCN2A 0 2 1 0 3
SCN4B 0 0 3 0 3
TRPM4 0 0 3 0 3
ACTB 0 2 0 0 2
AKAP9 0 0 2 0 2
BAG3 0 1 1 0 2
CACNA1G 0 0 2 0 2
CACNA2D1 0 0 2 0 2
CHD7 2 0 0 0 2
COL11A2 0 0 2 0 2
COL1A2 0 1 1 0 2
CREBBP 1 1 0 0 2
CTNNB1 2 0 0 0 2
DDX3X 2 0 0 0 2
DEPDC5 0 2 0 0 2
DYNC2H1 0 2 0 0 2
FOXP1 0 0 2 0 2
GATAD2B 2 0 0 0 2
KCNQ1, KCNQ1OT1, LOC106783508 1 1 0 0 2
KIF1A 0 0 2 0 2
LMNA 1 1 0 0 2
LOC105371049, PKD1 1 0 1 0 2
LOC110121269, SCN5A 0 0 2 0 2
LZTR1 0 0 2 0 2
MYH6 0 0 2 0 2
MYH7 0 1 1 0 2
PKD2 1 0 1 0 2
PKHD1 1 0 1 0 2
RBM20 0 1 1 0 2
SETD5 0 2 0 0 2
SOS2 0 0 2 0 2
SPTAN1 0 0 2 0 2
STRC 0 0 2 0 2
TCF4 1 0 1 0 2
​intergenic 1 0 0 0 1
ACTN2 0 0 1 0 1
ADNP 1 0 0 0 1
AHDC1 0 0 0 1 1
ANK2 0 0 1 0 1
ARHGEF10 0 0 1 0 1
ARID1B 0 0 1 0 1
ASXL3 1 0 0 0 1
ATP1A2 0 0 1 0 1
ATRX 0 1 0 0 1
AVPR2 0 0 1 0 1
B9D2 0 1 0 0 1
BRAT1 0 0 1 0 1
C10orf105, CDH23 0 0 1 0 1
CACNA1H 0 0 1 0 1
CACNA1S 0 0 1 0 1
CALM2 0 1 0 0 1
CAV3, SSUH2 0 0 1 0 1
CC2D2A 1 0 0 0 1
CDH23 1 0 0 0 1
CDK5RAP2 1 0 0 0 1
CEP290 1 0 0 0 1
CHD2 0 0 1 0 1
CHD8 0 1 0 0 1
CLCN1 0 0 1 0 1
CLCN2 0 0 1 0 1
COL11A1 0 1 0 0 1
COL2A1 0 1 0 0 1
CRPPA 0 0 1 0 1
DDOST 0 0 1 0 1
DEAF1 0 0 1 0 1
DIAPH3 0 0 1 0 1
DNM1 1 0 0 0 1
DSP 0 0 1 0 1
DYRK1A 0 0 1 0 1
EBF3 0 1 0 0 1
EP300 0 1 0 0 1
EYS 1 0 0 0 1
FOXF1 0 1 0 0 1
FOXH1, KIFC2 0 0 1 0 1
FTSJ1 0 0 1 0 1
GARS1 0 0 1 0 1
GJB1 0 0 1 0 1
GJB2 0 1 0 0 1
GPD1L 0 0 1 0 1
GRIK2 0 1 0 0 1
GRIN2A 0 0 1 0 1
GRIN2B 0 0 1 0 1
HBA-LCR, NPRL3 0 1 0 0 1
HDAC8 0 1 0 0 1
IQSEC2 0 1 0 0 1
JAG1 0 0 1 0 1
KAT6A 1 0 0 0 1
KCNA1 0 1 0 0 1
KCND3 0 0 1 0 1
KCNH1 0 1 0 0 1
KCNJ18 0 0 1 0 1
KCNJ5 0 0 1 0 1
KCNJ8 0 0 1 0 1
KDM5C 1 0 0 0 1
KMT2A 1 0 0 0 1
KMT2D 0 1 0 0 1
LAMA2 0 0 1 0 1
LDB3 0 0 1 0 1
LOC102724058, SCN1A 0 1 0 0 1
LOXHD1 1 0 0 0 1
MBD5 0 0 1 0 1
MECP2 1 0 0 0 1
MED13 0 1 0 0 1
MED13L 1 0 0 0 1
MERTK 0 1 0 0 1
MME 0 0 1 0 1
MRAS 0 1 0 0 1
MYL2 0 0 1 0 1
MYO15A 0 1 0 0 1
MYO16 0 1 0 0 1
NALCN 0 1 0 0 1
NIPBL 0 1 0 0 1
NKX2-1, SFTA3 0 1 0 0 1
NOTCH2 0 0 1 0 1
NPRL2 0 0 1 0 1
OFD1 1 0 0 0 1
OTOA 0 0 1 0 1
PBX1 0 1 0 0 1
PDZD7 1 0 0 0 1
PIGG 0 0 1 0 1
PIK3R2 0 1 0 0 1
POU3F4 1 0 0 0 1
PPM1D 1 0 0 0 1
PQBP1 0 1 0 0 1
PROS1 0 1 0 0 1
PSEN1 0 1 0 0 1
PTCHD1 0 0 1 0 1
PTEN 0 1 0 0 1
PUF60 1 0 0 0 1
PURA 0 1 0 0 1
RELN 0 0 1 0 1
RYR1 0 1 0 0 1
SCN1A 0 1 0 0 1
SCN4A 0 0 1 0 1
SLC12A3 1 0 0 0 1
SLC2A1 1 0 0 0 1
SLC4A1 1 0 0 0 1
SLC6A1 0 0 1 0 1
SNHG14, UBE3A 0 1 0 0 1
SYN1 0 1 0 0 1
SYNE1 1 0 0 0 1
TAZ 0 0 1 0 1
TBX4 0 0 1 0 1
TCF12 1 0 0 0 1
TECTA 0 0 1 0 1
USH2A 0 0 1 0 1
WNK1 0 0 1 0 1
ZEB2 1 0 0 0 1
ZIC3 0 1 0 0 1

Condition and significance breakdown #

Total conditions: 173
Download table as spreadsheet
Condition pathogenic likely pathogenic uncertain significance likely benign total
Long QT syndrome 1 20 5 5 0 30
Long QT syndrome 2 17 4 8 0 29
Long QT syndrome 3 6 2 13 0 21
Brugada syndrome 1 7 4 7 0 18
Timothy syndrome 1 2 13 0 16
Catecholaminergic polymorphic ventricular tachycardia type 1 1 3 10 0 14
Polycystic kidney disease, adult type 4 0 7 0 11
Dilated cardiomyopathy 1G 0 9 1 0 10
Andersen Tawil syndrome 2 0 4 0 6
Brugada syndrome 0 1 5 0 6
Hearing impairment 0 0 5 0 5
Alport syndrome 1, X-linked recessive 4 0 0 0 4
Cerebellar ataxia 1 0 3 0 4
Intellectual disability 1 2 1 0 4
Long QT syndrome 12 0 0 4 0 4
Brugada syndrome 8 0 0 3 0 3
Early infantile epileptic encephalopathy 11 0 2 1 0 3
Early infantile epileptic encephalopathy 9 1 2 0 0 3
Episodic ataxia type 2 1 1 1 0 3
Familial hypertrophic cardiomyopathy 4 1 0 2 0 3
Febrile seizures, familial, 4 0 0 3 0 3
Long QT syndrome 10 0 0 3 0 3
Long QT syndrome 5 0 1 2 0 3
Long QT syndrome 6 0 0 3 0 3
Osteogenesis imperfecta type III 1 1 1 0 3
Sotos syndrome 1 2 0 1 0 3
Surfactant metabolism dysfunction, pulmonary, 3 0 0 3 0 3
Ventricular tachycardia, catecholaminergic polymorphic, 2 0 0 3 0 3
Alport syndrome, autosomal recessive 0 2 0 0 2
Autosomal recessive polycystic kidney disease 1 0 1 0 2
Baraitser-Winter syndrome 1 0 2 0 0 2
CHARGE association 2 0 0 0 2
Cystic fibrosis 1 0 1 0 2
Deafness, autosomal recessive 12 1 0 1 0 2
Dilated cardiomyopathy 1A 1 1 0 0 2
Dilated cardiomyopathy 1DD 0 1 1 0 2
Dilated cardiomyopathy 1HH 0 1 1 0 2
Early infantile epileptic encephalopathy 5 0 0 2 0 2
Early infantile epileptic encephalopathy 7 0 2 0 0 2
Epilepsy, familial focal, with variable foci 1 0 2 0 0 2
Epileptic encephalopathy, early infantile, 42 0 0 2 0 2
Familial hypertrophic cardiomyopathy 1 0 1 1 0 2
Familial hypertrophic cardiomyopathy 14 0 0 2 0 2
Long QT syndrome 11 0 0 2 0 2
Mental retardation with language impairment and with or without autistic features 0 0 2 0 2
Mental retardation, X-linked 102 2 0 0 0 2
Mental retardation, autosomal dominant 18 2 0 0 0 2
Mental retardation, autosomal dominant 19 2 0 0 0 2
Mental retardation, autosomal dominant 23 0 2 0 0 2
Mental retardation, autosomal dominant 9 0 0 2 0 2
Noonan syndrome 10 0 0 2 0 2
Noonan syndrome 9 0 0 2 0 2
Osteogenesis imperfecta type I 1 0 1 0 2
Pitt-Hopkins syndrome 1 0 1 0 2
Pitt-Hopkins-like syndrome 2 0 0 2 0 2
Polycystic kidney disease 2 1 0 1 0 2
Rasopathy 0 1 1 0 2
Rubinstein-Taybi syndrome 1 1 1 0 0 2
Short-rib thoracic dysplasia 3 with or without polydactyly 0 2 0 0 2
Usher syndrome, type 2A 1 0 1 0 2
short QT syndrome 0 0 2 0 2
ATR-X syndrome 0 1 0 0 1
Alagille syndrome 1 0 0 1 0 1
Alagille syndrome 2 0 0 1 0 1
Alport syndrome 0 1 0 0 1
Alzheimer disease, type 3 0 1 0 0 1
Angelman syndrome 0 1 0 0 1
Arrhythmogenic right ventricular cardiomyopathy, type 8 0 0 1 0 1
Atrial septal defect 3 0 0 1 0 1
Autism, susceptibility to, 18 0 1 0 0 1
Autism, susceptibility to, X-linked 4 0 0 1 0 1
Bainbridge-Ropers syndrome 1 0 0 0 1
Benign familial hematuria 0 1 0 0 1
Benign familial neonatal seizures 1 1 0 0 0 1
Brugada syndrome 2 0 0 1 0 1
Brugada syndrome 3 0 0 1 0 1
Brugada syndrome 9 0 0 1 0 1
CDK8-kinase module-associated disorder 0 1 0 0 1
CONGENITAL ANOMALIES OF KIDNEY AND URINARY TRACT SYNDROME WITH OR WITHOUT HEARING LOSS, ABNORMAL EARS, OR DEVELOPMENTAL DELAY 0 1 0 0 1
Cardiac arrhythmia, ankyrin B-related 0 0 1 0 1
Caused by mutation in the tafazzin gene 0 0 1 0 1
Charcot-Marie-Tooth disease type 2D 0 0 1 0 1
Charcot-Marie-Tooth disease, axonal, type 2T 0 0 1 0 1
Choreoathetosis, hypothyroidism, and neonatal respiratory distress 0 1 0 0 1
Coffin-Siris syndrome 1 0 0 1 0 1
Congenital bilateral aplasia of vas deferens from CFTR mutation 0 1 0 0 1
Congenital contractures of the limbs and face, hypotonia, and developmental delay 0 1 0 0 1
Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A7 0 0 1 0 1
Congenital myotonia, autosomal dominant form 0 0 1 0 1
Cornelia de Lange syndrome 1 0 1 0 0 1
Cornelia de Lange syndrome 5 0 1 0 0 1
Craniosynostosis 3 1 0 0 0 1
Deafness 1 0 0 0 1
Deafness, X-linked 2 1 0 0 0 1
Deafness, autosomal dominant 13 0 0 1 0 1
Deafness, autosomal dominant 3a 0 1 0 0 1
Deafness, autosomal recessive 16 0 0 1 0 1
Deafness, autosomal recessive 3 0 1 0 0 1
Dilated cardiomyopathy 1AA 0 0 1 0 1
Epilepsy with grand mal seizures on awakening 0 0 1 0 1
Epilepsy, X-linked, with variable learning disabilities and behavior disorders 0 1 0 0 1
Epilepsy, childhood absence 6 0 0 1 0 1
Epilepsy, familial focal, with variable foci 2 0 0 1 0 1
Epilepsy, familial focal, with variable foci 3 0 1 0 0 1
Epilepsy, familial temporal lobe, 7 0 0 1 0 1
Epilepsy, focal, with speech disorder and with or without mental retardation 0 0 1 0 1
Epileptic encephalopathy, childhood-onset 0 0 1 0 1
Epileptic encephalopathy, early infantile, 27 0 0 1 0 1
Epileptic encephalopathy, early infantile, 31 1 0 0 0 1
Episodic ataxia type 1 0 1 0 0 1
Familial hemiplegic migraine type 2 0 0 1 0 1
Familial hypertrophic cardiomyopathy 10 0 0 1 0 1
Familial hypokalemia-hypomagnesemia 1 0 0 0 1
GLUT1 deficiency syndrome 1 1 0 0 0 1
Generalized epilepsy with febrile seizures plus, type 2 0 1 0 0 1
Helsmoortel-Van der Aa Syndrome 1 0 0 0 1
Hereditary sensory and autonomic neuropathy type IIA 0 0 1 0 1
Heterotaxy, visceral, X-linked 0 1 0 0 1
Hypokalemic periodic paralysis 1 0 0 1 0 1
Hypotonia, ataxia, and delayed development syndrome 0 1 0 0 1
Intellectual developmental disorder with gastrointestinal difficulties and high pain threshold 1 0 0 0 1
Joubert syndrome 5 1 0 0 0 1
Joubert syndrome 9 1 0 0 0 1
KCNH1-related phenotype 0 1 0 0 1
Kabuki syndrome 1 0 1 0 0 1
Long QT syndrome 0 0 1 0 1
Long QT syndrome 13 0 0 1 0 1
Long QT syndrome 15 0 1 0 0 1
Long QT syndrome 9 0 0 1 0 1
MYO16-associated developmental delay 0 1 0 0 1
Macrocephaly/autism syndrome 0 1 0 0 1
Marshall syndrome 0 1 0 0 1
Meckel syndrome, type 10 0 1 0 0 1
Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 0 1 0 0 1
Mental retardation 9, X-linked 0 0 1 0 1
Mental retardation and distinctive facial features with or without cardiac defects 1 0 0 0 1
Mental retardation, autosomal dominant 1 0 0 1 0 1
Mental retardation, autosomal dominant 24 0 0 1 0 1
Mental retardation, autosomal dominant 31 0 1 0 0 1
Mental retardation, autosomal dominant 32 1 0 0 0 1
Mental retardation, autosomal dominant 7 0 0 1 0 1
Mental retardation, autosomal recessive 53 0 0 1 0 1
Mental retardation, syndromic, Claes-Jensen type, X-linked 1 0 0 0 1
Merosin deficient congenital muscular dystrophy 0 0 1 0 1
Microcephaly 0 1 0 0 1
Mowat-Wilson syndrome 1 0 0 0 1
Myoclonic-atonic epilepsy 0 0 1 0 1
Myopathy, Central Core 0 1 0 0 1
Nephrogenic diabetes insipidus, X-linked 0 0 1 0 1
Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia 0 0 1 0 1
Orofaciodigital syndrome I 1 0 0 0 1
Osteogenesis imperfecta, recessive perinatal lethal 1 0 0 0 1
Paramyotonia congenita of von Eulenburg 0 0 1 0 1
Persistent fetal circulation 0 1 0 0 1
Primary autosomal recessive microcephaly 3 1 0 0 0 1
Primary pulmonary hypertension 0 0 1 0 1
Protein S deficiency 0 1 0 0 1
Retinitis pigmentosa 25 1 0 0 0 1
Retinitis pigmentosa 38 0 1 0 0 1
Rett syndrome 1 0 0 0 1
Rigidity and multifocal seizure syndrome, lethal neonatal 0 0 1 0 1
Rubinstein-Taybi syndrome 2 0 1 0 0 1
Severe myoclonic epilepsy in infancy 0 1 0 0 1
Short QT syndrome 2 0 0 1 0 1
Slowed nerve conduction velocity, autosomal dominant 0 0 1 0 1
Spherocytosis type 2 1 0 0 0 1
Spherocytosis type 4 1 0 0 0 1
Spinocerebellar ataxia, autosomal recessive 8 1 0 0 0 1
Stickler syndrome type 1 0 1 0 0 1
Thyrotoxic periodic paralysis 2 0 0 1 0 1
Verheij syndrome 1 0 0 0 1
Wiedemann-Steiner syndrome 1 0 0 0 1
Xia-Gibbs syndrome 0 0 0 1 1

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