ClinVar Miner

Variants from Institute of Human Genetics, Heidelberg University

Location: Germany  Primary collection method: clinical testing
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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
42 42 2 0 0 86

Gene and significance breakdown #

Total genes and gene combinations: 77
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Gene or gene combination pathogenic likely pathogenic uncertain significance total
TTN 1 2 0 3
AARS2, POLR1C 2 0 0 2
AUTS2 2 0 0 2
FLNC 0 2 0 2
PIBF1 2 0 0 2
POLR3B 1 1 0 2
SACS 1 1 0 2
SEC23B 1 1 0 2
ACTA2 1 0 0 1
ACTB 1 0 0 1
ALG10, SYT10 0 0 1 1
ANKRD11 1 0 0 1
AP4M1 0 1 0 1
APOB 0 1 0 1
ARID1B 1 0 0 1
ARL10, B4GALT7, CDHR2, CLTB, DBN1, DDX41, DOK3, EIF4E1B, F12, FAF2, FAM153A, FAM153B, FAM193B, FGFR4, GPRIN1, GRK6, HIGD2A, HK3, KIAA1191, LMAN2, MXD3, NOP16, NSD1, PDLIM7, PFN3, PRELID1, PROP1, PRR7, RAB24, RGS14, RNF44, SIMC1, SLC34A1, SNCB, THOC3, TMED9, TSPAN17, UIMC1, UNC5A, ZNF346 1 0 0 1
BRCA2 1 0 0 1
CACNA1C 0 1 0 1
CC2D2A 0 1 0 1
CDK5RAP2 1 0 0 1
CEP290 0 1 0 1
CERS1, GDF1, UPF1 0 1 0 1
CHD3 0 1 0 1
CHEK2 1 0 0 1
CIC 0 1 0 1
COL4A1 0 1 0 1
CTCF 1 0 0 1
DDX3X 1 0 0 1
DES 0 1 0 1
DLG4 1 0 0 1
ELANE 0 1 0 1
ENG 1 0 0 1
EXT2 1 0 0 1
FOXP1, LOC126806714 1 0 0 1
GATAD2B 1 0 0 1
GCK 1 0 0 1
IRF2BPL 1 0 0 1
KCNB1 0 1 0 1
KCNN2 1 0 0 1
KCNQ2 0 1 0 1
KDM3B 0 1 0 1
KIF5C 0 1 0 1
KMT2A 1 0 0 1
KMT2D 1 0 0 1
LOC102724058, SCN1A 1 0 0 1
LOC130002813, PRDM12 0 1 0 1
MAP3K1 0 1 0 1
MECP2 1 0 0 1
MID1 0 1 0 1
MUTYH 1 0 0 1
MYBPC1 0 1 0 1
MYBPC3 1 0 0 1
NAA15 1 0 0 1
PDE6H 0 1 0 1
PKLR 1 0 0 1
PKP2 0 1 0 1
PLK4 0 1 0 1
PLOD1 0 1 0 1
POGZ 0 1 0 1
PURA 0 0 1 1
RERE 0 1 0 1
RET 0 1 0 1
RHOBTB2 0 1 0 1
RYR1 0 1 0 1
SALL4 0 1 0 1
SCN5A 0 1 0 1
SHANK3 1 0 0 1
SMAD4 1 0 0 1
SMC1A 0 1 0 1
SOS1 1 0 0 1
SOX9 1 0 0 1
SPTA1 0 1 0 1
SYNGAP1 1 0 0 1
TCAP 1 0 0 1
TK2 0 1 0 1
WBP11 0 1 0 1
ZNF148 0 1 0 1

Condition and significance breakdown #

Total conditions: 78
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Condition pathogenic likely pathogenic uncertain significance total
Autism spectrum disorder due to AUTS2 deficiency 2 0 0 2
Charlevoix-Saguenay spastic ataxia 1 1 0 2
Combined oxidative phosphorylation defect type 8 2 0 0 2
Congenital dyserythropoietic anemia, type II 1 1 0 2
Dilated cardiomyopathy 1G 0 2 0 2
Hypertrophic cardiomyopathy 26 0 2 0 2
Hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism 1 1 0 2
Joubert syndrome 33 2 0 0 2
46,XY sex reversal 6 0 1 0 1
Arrhythmogenic right ventricular dysplasia 9 0 1 0 1
Arthrogryposis, distal, type 1B 0 1 0 1
Autosomal recessive limb-girdle muscular dystrophy type 2G 1 0 0 1
Baraitser-Winter syndrome 1 1 0 0 1
Brain small vessel disease 1 with or without ocular anomalies 0 1 0 1
Breast-ovarian cancer, familial, susceptibility to, 2 1 0 0 1
Brugada syndrome 1 0 1 0 1
Camptomelic dysplasia 1 0 0 1
Central core myopathy 0 1 0 1
Coffin-Siris syndrome 1 1 0 0 1
Complex cortical dysplasia with other brain malformations 2 0 1 0 1
Congenital insensitivity to pain-hypohidrosis syndrome 0 1 0 1
Congenital muscular hypertrophy-cerebral syndrome 0 1 0 1
Developmental and epileptic encephalopathy 6B 1 0 0 1
Developmental and epileptic encephalopathy, 26 0 1 0 1
Developmental and epileptic encephalopathy, 64 0 1 0 1
Diets-Jongmans syndrome 0 1 0 1
Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J; Tibial muscular dystrophy; Myopathy, myofibrillar, 9, with early respiratory failure; Early-onset myopathy with fatal cardiomyopathy; Hypertrophic cardiomyopathy 9 1 0 0 1
Dilated cardiomyopathy 1I; Desmin-related myofibrillar myopathy; Neurogenic scapuloperoneal syndrome, Kaeser type 0 1 0 1
Duane-radial ray syndrome 0 1 0 1
Ehlers-Danlos syndrome, kyphoscoliotic type 1 0 1 0 1
Elliptocytosis 2 0 1 0 1
Exostoses, multiple, type 2 1 0 0 1
Familial adenomatous polyposis 2 1 0 0 1
Familial cancer of breast 1 0 0 1
Fibromatosis, gingival, 1; Noonan syndrome 4 1 0 0 1
Global developmental delay 0 0 1 1
Global developmental delay, absent or hypoplastic corpus callosum, and dysmorphic facies 0 1 0 1
Hereditary spastic paraplegia 50 0 1 0 1
Hypercholesterolemia, autosomal dominant, type B 0 1 0 1
Hypertrophic cardiomyopathy 4 1 0 0 1
Intellectual developmental disorder 62 1 0 0 1
Intellectual disability, X-linked 102 1 0 0 1
Intellectual disability, autosomal dominant 45 0 1 0 1
Intellectual disability, autosomal dominant 5 1 0 0 1
Intellectual disability, autosomal dominant 50 1 0 0 1
Intellectual disability-feeding difficulties-developmental delay-microcephaly syndrome 1 0 0 1
Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome 0 1 0 1
Intellectual disability-severe speech delay-mild dysmorphism syndrome 1 0 0 1
Joubert syndrome 5 0 1 0 1
KBG syndrome 1 0 0 1
Kabuki syndrome 1 1 0 0 1
MULTIPLE ENDOCRINE NEOPLASIA, TYPE IIA 0 1 0 1
Maturity-onset diabetes of the young type 2 1 0 0 1
Meckel syndrome, type 6 0 1 0 1
Microcephaly 3, primary, autosomal recessive 1 0 0 1
Microcephaly and chorioretinopathy 2 0 1 0 1
Mitochondrial DNA depletion syndrome, myopathic form 0 1 0 1
Multisystemic smooth muscle dysfunction syndrome 1 0 0 1
Myhre syndrome 1 0 0 1
Neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures 0 1 0 1
Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart 0 1 0 1
Neurodevelopmental disorder with or without variable movement or behavioral abnormalities; Dystonia 34, myoclonic 1 0 0 1
Neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures 1 0 0 1
Neutropenia, severe congenital, 1, autosomal dominant 0 1 0 1
PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome 0 0 1 1
Phelan-McDermid syndrome; Schizophrenia 15 1 0 0 1
Pyruvate kinase deficiency of red cells 1 0 0 1
Retinal cone dystrophy 3A 0 1 0 1
Rett syndrome 1 0 0 1
Right atrial isomerism 0 1 0 1
Seizures, benign familial neonatal, 1; Developmental and epileptic encephalopathy, 7 0 1 0 1
Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome 1 0 0 1
Snijders Blok-Campeau syndrome 0 1 0 1
Sotos syndrome 1 0 0 1
Telangiectasia, hereditary hemorrhagic, type 1 1 0 0 1
Vertebral, cardiac, tracheoesophageal, renal, and limb defects 0 1 0 1
Wiedemann-Steiner syndrome 1 0 0 1
X-linked Opitz G/BBB syndrome 0 1 0 1

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