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
102 78 154 0 0 334

Gene and significance breakdown #

Total genes and gene combinations: 151
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Gene or gene combination pathogenic likely pathogenic uncertain significance total
SCN5A 13 5 16 34
KCNQ1 18 3 6 27
KCNH2 14 4 8 26
CACNA1C 1 1 13 15
RYR2 0 2 8 10
TTN 0 9 1 10
PKD1 3 0 6 9
CACNA1A 2 1 3 6
KCNJ2 2 0 4 6
COL1A1 3 0 1 4
SNTA1 0 0 4 4
ADGRV1 0 0 3 3
CASQ2 0 0 3 3
CFTR 1 1 1 3
MYBPC3 1 0 2 3
NRXN1 1 0 2 3
NSD1 2 0 1 3
SCN10A 0 1 2 3
ABCA3 0 0 2 2
ACTB 0 2 0 2
CHD7 2 0 0 2
COL1A2 0 1 1 2
COL4A3, LOC654841 0 2 0 2
CREBBP 1 1 0 2
CTNNB1 2 0 0 2
DDX3X 2 0 0 2
DEPDC5 0 2 0 2
GATAD2B 2 0 0 2
HCN4 0 0 2 2
KCNE1 0 1 1 2
KCNE2 0 0 2 2
KCNQ1, KCNQ1OT1, LOC106783508 1 1 0 2
KCNQ2 1 1 0 2
LMNA 1 1 0 2
LOC105371049, PKD1 1 0 1 2
LOC110121269, SCN5A 0 0 2 2
LZTR1 0 0 2 2
MYH7 0 1 1 2
PCDH19 1 1 0 2
PKD2 1 0 1 2
RBM20 0 1 1 2
SCN2A 0 2 0 2
SCN4B 0 0 2 2
SOS2 0 0 2 2
SPTAN1 0 0 2 2
TCF4 1 0 1 2
TRPM4 0 0 2 2
​intergenic 1 0 0 1
ACTN2 0 0 1 1
ADNP 1 0 0 1
AHDC1 0 0 1 1
AKAP9 0 0 1 1
ANK2 0 0 1 1
ARID1B 0 0 1 1
ASXL3 1 0 0 1
ATP1A2 0 0 1 1
ATRX 0 1 0 1
AVPR2 0 0 1 1
BAG3 0 1 0 1
BRAT1 0 0 1 1
C10orf105, CDH23 0 0 1 1
CACNA1H 0 0 1 1
CACNA2D1 0 0 1 1
CALM2 0 1 0 1
CAV3, SSUH2 0 0 1 1
CC2D2A 1 0 0 1
CDH23 1 0 0 1
CDK5RAP2 1 0 0 1
CEP290 1 0 0 1
CHD2 0 0 1 1
CHD8 0 1 0 1
CLCN2 0 0 1 1
COL11A1 0 1 0 1
COL11A2 0 0 1 1
COL2A1 0 1 0 1
COL4A5 1 0 0 1
CRPPA 0 0 1 1
DDOST 0 0 1 1
DEAF1 0 0 1 1
DNM1 1 0 0 1
DSP 0 0 1 1
EBF3 0 1 0 1
FOXF1 0 1 0 1
FOXP1 0 0 1 1
FTSJ1 0 0 1 1
GJB2 0 1 0 1
GPD1L 0 0 1 1
GRIK2 0 1 0 1
GRIN2A 0 0 1 1
GRIN2B 0 0 1 1
HBA-LCR, NPRL3 0 1 0 1
HDAC8 0 1 0 1
IQSEC2 0 1 0 1
JAG1 0 0 1 1
KAT6A 1 0 0 1
KCNA1 0 1 0 1
KCND3 0 0 1 1
KCNH1 0 1 0 1
KCNJ18 0 0 1 1
KCNJ5 0 0 1 1
KCNJ8 0 0 1 1
KDM5C 1 0 0 1
KMT2A 1 0 0 1
KMT2D 0 1 0 1
LAMA2 0 0 1 1
LDB3 0 0 1 1
LOC102724058, SCN1A 0 1 0 1
LOXHD1 1 0 0 1
MBD5 0 0 1 1
MECP2 1 0 0 1
MED13 0 1 0 1
MED13L 1 0 0 1
MERTK 0 1 0 1
MRAS 0 1 0 1
MYH6 0 0 1 1
MYL2 0 0 1 1
MYO15A 0 1 0 1
MYO16 0 1 0 1
NALCN 0 1 0 1
NIPBL 0 1 0 1
NKX2-1, SFTA3 0 1 0 1
NPRL2 0 0 1 1
OFD1 1 0 0 1
PBX1 0 1 0 1
PDZD7 1 0 0 1
PIGG 0 0 1 1
PIK3R2 0 1 0 1
POU3F4 1 0 0 1
PPM1D 1 0 0 1
PQBP1 0 1 0 1
PTCHD1 0 0 1 1
PTEN 0 1 0 1
PUF60 1 0 0 1
PURA 0 1 0 1
RELN 0 0 1 1
RYR1 0 1 0 1
SCN1A 0 1 0 1
SCN4A 0 0 1 1
SETD5 0 1 0 1
SLC12A3 1 0 0 1
SLC2A1 1 0 0 1
SLC4A1 1 0 0 1
SLC6A1 0 0 1 1
STRC 0 0 1 1
SYNE1 1 0 0 1
TAZ 0 0 1 1
TBX4 0 0 1 1
USH2A 0 0 1 1
WNK1 0 0 1 1
ZEB2 1 0 0 1
ZIC3 0 1 0 1

Condition and significance breakdown #

Total conditions: 151
Download table as spreadsheet
Condition pathogenic likely pathogenic uncertain significance total
Long QT syndrome 1 19 4 5 28
Long QT syndrome 2 14 4 8 26
Long QT syndrome 3 6 1 12 19
Brugada syndrome 1 7 4 7 18
Timothy syndrome 1 1 11 13
Polycystic kidney disease, adult type 4 0 7 11
Catecholaminergic polymorphic ventricular tachycardia type 1 0 2 8 10
Dilated cardiomyopathy 1G 0 9 1 10
Andersen Tawil syndrome 2 0 4 6
Brugada syndrome 0 1 4 5
Intellectual disability 1 2 1 4
Long QT syndrome 12 0 0 4 4
Episodic ataxia type 2 1 1 1 3
Familial hypertrophic cardiomyopathy 4 1 0 2 3
Febrile seizures, familial, 4 0 0 3 3
Osteogenesis imperfecta type III 1 1 1 3
Sotos syndrome 1 2 0 1 3
Ventricular tachycardia, catecholaminergic polymorphic, 2 0 0 3 3
Baraitser-Winter syndrome 1 0 2 0 2
Brugada syndrome 8 0 0 2 2
CHARGE association 2 0 0 2
Cystic fibrosis 1 0 1 2
Deafness, autosomal recessive 12 1 0 1 2
Dilated cardiomyopathy 1A 1 1 0 2
Dilated cardiomyopathy 1DD 0 1 1 2
Early infantile epileptic encephalopathy 11 0 2 0 2
Early infantile epileptic encephalopathy 5 0 0 2 2
Early infantile epileptic encephalopathy 9 1 1 0 2
Epilepsy, familial focal, with variable foci 1 0 2 0 2
Epileptic encephalopathy, early infantile, 42 0 0 2 2
Familial hypertrophic cardiomyopathy 1 0 1 1 2
Familial hypertrophic cardiomyopathy 14 0 0 2 2
Long QT syndrome 10 0 0 2 2
Long QT syndrome 5 0 1 1 2
Long QT syndrome 6 0 0 2 2
Mental retardation, X-linked 102 2 0 0 2
Mental retardation, autosomal dominant 18 2 0 0 2
Mental retardation, autosomal dominant 19 2 0 0 2
Noonan syndrome 10 0 0 2 2
Noonan syndrome 9 0 0 2 2
Osteogenesis imperfecta type I 1 0 1 2
Pitt-Hopkins syndrome 1 0 1 2
Pitt-Hopkins-like syndrome 2 0 0 2 2
Polycystic kidney disease 2 1 0 1 2
Rasopathy 0 1 1 2
Rubinstein-Taybi syndrome 1 1 1 0 2
Surfactant metabolism dysfunction, pulmonary, 3 0 0 2 2
Usher syndrome, type 2A 1 0 1 2
ATR-X syndrome 0 1 0 1
Alagille syndrome 1 0 0 1 1
Alport syndrome 0 1 0 1
Alport syndrome 1, X-linked recessive 1 0 0 1
Alport syndrome, autosomal recessive 0 1 0 1
Arrhythmogenic right ventricular cardiomyopathy, type 8 0 0 1 1
Autism, susceptibility to, 18 0 1 0 1
Autism, susceptibility to, X-linked 4 0 0 1 1
Bainbridge-Ropers syndrome 1 0 0 1
Benign familial neonatal seizures 1 1 0 0 1
Brugada syndrome 2 0 0 1 1
Brugada syndrome 3 0 0 1 1
Brugada syndrome 9 0 0 1 1
CDK8-kinase module-associated disorder 0 1 0 1
CONGENITAL ANOMALIES OF KIDNEY AND URINARY TRACT SYNDROME WITH OR WITHOUT HEARING LOSS, ABNORMAL EARS, OR DEVELOPMENTAL DELAY 0 1 0 1
Cardiac arrhythmia, ankyrin B-related 0 0 1 1
Caused by mutation in the tafazzin gene 0 0 1 1
Cerebellar ataxia 1 0 0 1
Choreoathetosis, hypothyroidism, and neonatal respiratory distress 0 1 0 1
Coffin-Siris syndrome 1 0 0 1 1
Congenital bilateral absence of the vas deferens 0 1 0 1
Congenital contractures of the limbs and face, hypotonia, and developmental delay 0 1 0 1
Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A7 0 0 1 1
Cornelia de Lange syndrome 1 0 1 0 1
Cornelia de Lange syndrome 5 0 1 0 1
Deafness 1 0 0 1
Deafness, X-linked 2 1 0 0 1
Deafness, autosomal dominant 13 0 0 1 1
Deafness, autosomal dominant 3a 0 1 0 1
Deafness, autosomal recessive 16 0 0 1 1
Deafness, autosomal recessive 3 0 1 0 1
Dilated cardiomyopathy 1AA 0 0 1 1
Dilated cardiomyopathy 1HH 0 1 0 1
Early infantile epileptic encephalopathy 7 0 1 0 1
Epilepsy with grand mal seizures on awakening 0 0 1 1
Epilepsy, childhood absence 6 0 0 1 1
Epilepsy, familial focal, with variable foci 2 0 0 1 1
Epilepsy, familial focal, with variable foci 3 0 1 0 1
Epilepsy, familial temporal lobe, 7 0 0 1 1
Epilepsy, focal, with speech disorder and with or without mental retardation 0 0 1 1
Epileptic encephalopathy, childhood-onset 0 0 1 1
Epileptic encephalopathy, early infantile, 27 0 0 1 1
Epileptic encephalopathy, early infantile, 31 1 0 0 1
Episodic ataxia type 1 0 1 0 1
Familial hemiplegic migraine type 2 0 0 1 1
Familial hypertrophic cardiomyopathy 10 0 0 1 1
Familial hypokalemia-hypomagnesemia 1 0 0 1
GLUT1 deficiency syndrome 1 1 0 0 1
Generalized epilepsy with febrile seizures plus, type 2 0 1 0 1
Helsmoortel-Van der Aa Syndrome 1 0 0 1
Hereditary sensory and autonomic neuropathy type IIA 0 0 1 1
Heterotaxy, visceral, X-linked 0 1 0 1
Hypotonia, ataxia, and delayed development syndrome 0 1 0 1
Intellectual developmental disorder with gastrointestinal difficulties and high pain threshold 1 0 0 1
Joubert syndrome 5 1 0 0 1
Joubert syndrome 9 1 0 0 1
KCNH1-related phenotype 0 1 0 1
Kabuki syndrome 1 0 1 0 1
Long QT syndrome 0 0 1 1
Long QT syndrome 11 0 0 1 1
Long QT syndrome 13 0 0 1 1
Long QT syndrome 15 0 1 0 1
Long QT syndrome 9 0 0 1 1
MYO16-associated developmental delay 0 1 0 1
Macrocephaly/autism syndrome 0 1 0 1
Marshall syndrome 0 1 0 1
Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 0 1 0 1
Mental retardation 9, X-linked 0 0 1 1
Mental retardation and distinctive facial features with or without cardiac defects 1 0 0 1
Mental retardation with language impairment and with or without autistic features 0 0 1 1
Mental retardation, autosomal dominant 1 0 0 1 1
Mental retardation, autosomal dominant 23 0 1 0 1
Mental retardation, autosomal dominant 24 0 0 1 1
Mental retardation, autosomal dominant 31 0 1 0 1
Mental retardation, autosomal dominant 32 1 0 0 1
Mental retardation, autosomal recessive 53 0 0 1 1
Mental retardation, syndromic, Claes-Jensen type, X-linked 1 0 0 1
Merosin deficient congenital muscular dystrophy 0 0 1 1
Microcephaly 0 1 0 1
Mowat-Wilson syndrome 1 0 0 1
Myoclonic-atonic epilepsy 0 0 1 1
Myopathy, Central Core 0 1 0 1
Nephrogenic diabetes insipidus, X-linked 0 0 1 1
Oral-facial-digital syndrome 1 0 0 1
Osteogenesis imperfecta, recessive perinatal lethal 1 0 0 1
Paramyotonia congenita of von Eulenburg 0 0 1 1
Persistent fetal circulation 0 1 0 1
Primary autosomal recessive microcephaly 3 1 0 0 1
Primary pulmonary hypertension 0 0 1 1
Retinitis pigmentosa 38 0 1 0 1
Rett syndrome 1 0 0 1
Rigidity and multifocal seizure syndrome, lethal neonatal 0 0 1 1
Severe myoclonic epilepsy in infancy 0 1 0 1
Short QT syndrome 2 0 0 1 1
Spherocytosis type 2 1 0 0 1
Spherocytosis type 4 1 0 0 1
Spinocerebellar ataxia, autosomal recessive 8 1 0 0 1
Stickler syndrome type 1 0 1 0 1
Thyrotoxic periodic paralysis 2 0 0 1 1
Verheij syndrome 1 0 0 1
Wiedemann-Steiner syndrome 1 0 0 1
Xia-Gibbs syndrome 0 0 1 1
short QT syndrome 0 0 1 1

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