ClinVar Miner

Variants from Institute of Human Genetics, Heidelberg University

Location: Germany  Primary collection method: clinical testing
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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
100 92 3 0 0 194

Gene and significance breakdown #

Total genes and gene combinations: 148
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Gene or gene combination pathogenic likely pathogenic uncertain significance total
MECP2 4 1 0 5
TTN 1 4 0 5
PKP2 3 1 0 4
ANKRD11 2 1 0 3
BRCA2 2 1 0 3
CHEK2 1 3 0 3
LDLR 1 2 0 3
MC4R 0 3 0 3
AARS2 2 0 0 2
APOB 0 2 0 2
ATM 2 0 0 2
AUTS2 2 0 0 2
CLASP1, RNU4ATAC 0 2 0 2
CRELD1 2 0 0 2
DLG4 2 0 0 2
FLNC 0 2 0 2
GNAS 1 1 0 2
HBB, LOC106099062, LOC107133510 2 0 0 2
HNRNPU 2 0 0 2
KMT2D 2 0 0 2
MYBPC3 2 0 0 2
NAA15 1 1 0 2
PIBF1 2 0 0 2
PMM2 1 1 0 2
POLR3B 1 1 0 2
PTEN 2 0 0 2
RYR1 0 2 0 2
SACS 1 1 0 2
SCN5A 1 1 0 2
SEC23B 1 1 0 2
SLC2A10 0 2 0 2
SMC1A 0 2 0 2
USP53 0 2 0 2
ABCC6 1 0 0 1
ABCG5, DYNC2LI1 1 0 0 1
ACTA2 1 0 0 1
ACTB 1 0 0 1
ALG10, SYT10 0 0 1 1
AP4M1 0 1 0 1
APC 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
ASPM 0 1 0 1
ATM, C11orf65 1 0 0 1
ATP1A2 1 0 0 1
BRPF1 0 1 0 1
CACNA1A 0 1 0 1
CACNA1C 0 1 0 1
CACNB2 0 1 0 1
CC2D2A 0 1 0 1
CCDST, FLG 0 1 0 1
CDK13 1 0 0 1
CDK5RAP2 1 0 0 1
CDKN2A, LOC130001603 1 0 0 1
CDRT15, CDRT3, CDRT4, CDRT7, CDRT8, COX10, FBXW10B, HS3ST3B1, LOC101928475, LOC105943586, LOC105943587, LOC112529896, LOC125177427, LOC126862511, LOC126862512, LOC126862513, LOC130060304, LOC130060305, LOC130060306, LOC130060307, LOC132090456, MGC12916, MIR4731, PMP22, TEKT3, TVP23C, TVP23C-CDRT4 1 0 0 1
CEP290 0 1 0 1
CERS1, GDF1, UPF1 0 1 0 1
CHD2 1 0 0 1
CHD3 0 1 0 1
CHD7 1 0 0 1
CIC 0 1 0 1
CLCN1 0 1 0 1
CLCN6 0 0 1 1
CLN3 1 0 0 1
COL4A1 0 1 0 1
CPAP, RNF17 0 1 0 1
CTCF 1 0 0 1
DDX3X 1 0 0 1
DES 0 1 0 1
EEF1A2 1 0 0 1
ELANE 0 1 0 1
ENG 1 0 0 1
EP300 0 1 0 1
EXT2 1 0 0 1
FBXO11 1 0 0 1
FOXP1 1 0 0 1
FOXP1, LOC126806714 1 0 0 1
FOXP2 1 0 0 1
GATAD2B 1 0 0 1
GCK 1 0 0 1
HBB, LOC106099062, LOC107133510, LOC110006319 1 0 0 1
HERC1 1 0 0 1
HFE 1 0 0 1
HK1 0 1 0 1
IQSEC2 0 1 0 1
IRF2BPL 1 0 0 1
ITGB6 0 1 0 1
KAT6B 1 0 0 1
KCNB1 0 1 0 1
KCNN2 1 0 0 1
KCNQ1 0 1 0 1
KCNQ2 0 1 0 1
KDM3B 0 1 0 1
KIF5C 0 1 0 1
KMT2A 1 0 0 1
LOC102724058, SCN1A 1 0 0 1
LOC110806306, TERC 0 1 0 1
LOC130002813, PRDM12 0 1 0 1
MAP3K1 0 1 0 1
MED13 0 1 0 1
MID1 0 1 0 1
MSH2 0 1 0 1
MSH6 1 0 0 1
MUTYH 1 0 0 1
MYBPC1 0 1 0 1
MYH7 0 1 0 1
NF1 1 0 0 1
NPHP3, NPHP3-ACAD11 0 1 0 1
NR2F1 0 1 0 1
PALB2 1 0 0 1
PDE6H 0 1 0 1
PKHD1 1 0 0 1
PKLR 1 0 0 1
PLK4 0 1 0 1
PLOD1 0 1 0 1
POGZ 0 1 0 1
PRMT7 0 1 0 1
PURA 0 0 1 1
RAB3GAP1 0 1 0 1
RERE 0 1 0 1
RET 0 1 0 1
RFT1 0 1 0 1
RHOBTB2 0 1 0 1
SALL4 0 1 0 1
SETD5 1 0 0 1
SHANK3 1 0 0 1
SMAD4 1 0 0 1
SMARCA4 1 0 0 1
SOS1 1 0 0 1
SOX4 0 1 0 1
SOX5 1 0 0 1
SOX9 1 0 0 1
SPTA1 0 1 0 1
SYNGAP1 1 0 0 1
TCAP 1 0 0 1
TCF12 1 0 0 1
TCF4 0 1 0 1
TK2 0 1 0 1
TRAPPC4 1 0 0 1
TSC2 1 0 0 1
TTR 1 0 0 1
TUSC3 1 0 0 1
TYR 1 0 0 1
WASF1 1 0 0 1
WBP11 0 1 0 1
ZMYM3 1 0 0 1
ZMYND11 0 1 0 1
ZNF148 0 1 0 1

Condition and significance breakdown #

Total conditions: 156
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Condition pathogenic likely pathogenic uncertain significance total
Arrhythmogenic right ventricular dysplasia 9 3 2 0 5
Rett syndrome 3 1 0 4
BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 20 0 3 0 3
Dilated cardiomyopathy 1G 0 3 0 3
Familial cancer of breast 2 1 0 3
Hypercholesterolemia, familial, 1 1 2 0 3
KBG syndrome 2 1 0 3
Arterial tortuosity syndrome 0 2 0 2
Autism spectrum disorder due to AUTS2 deficiency 2 0 0 2
Beta-thalassemia HBB/LCRB 2 0 0 2
Breast-ovarian cancer, familial, susceptibility to, 2 1 1 0 2
Charlevoix-Saguenay spastic ataxia 1 1 0 2
Cholestasis, progressive familial intrahepatic, 7, with or without hearing loss 0 2 0 2
Combined oxidative phosphorylation defect type 8 2 0 0 2
Congenital dyserythropoietic anemia, type II 1 1 0 2
Congenital muscular hypertrophy-cerebral syndrome 0 2 0 2
Developmental and epileptic encephalopathy, 54 2 0 0 2
Familial cancer of breast; Ataxia-telangiectasia syndrome 2 0 0 2
Familial cancer of breast; Familial prostate cancer 0 2 0 2
Hypertrophic cardiomyopathy 26 0 2 0 2
Hypertrophic cardiomyopathy 4 2 0 0 2
Hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism 1 1 0 2
Intellectual disability, autosomal dominant 50 1 1 0 2
Intellectual disability-severe speech delay-mild dysmorphism syndrome 2 0 0 2
Jeffries-Lakhani neurodevelopmental syndrome 2 0 0 2
Joubert syndrome 33 2 0 0 2
Kabuki syndrome 1 2 0 0 2
Lowry-Wood syndrome 0 2 0 2
PMM2-congenital disorder of glycosylation 1 1 0 2
46,XY sex reversal 6 0 1 0 1
Amelogenesis imperfecta type 1H 0 1 0 1
Amyloidosis, hereditary systemic 1 1 0 0 1
Arthrogryposis, distal, type 1B 0 1 0 1
Autosomal recessive inherited pseudoxanthoma elasticum 1 0 0 1
Autosomal recessive limb-girdle muscular dystrophy type 2G 1 0 0 1
Baraitser-Winter syndrome 1 1 0 0 1
Bosch-Boonstra-Schaaf optic atrophy syndrome 0 1 0 1
Brain small vessel disease 1 with or without ocular anomalies 0 1 0 1
Breast-ovarian cancer, familial, susceptibility to, 2; Fanconi anemia complementation group D1 1 0 0 1
Breast-ovarian cancer, familial, susceptibility to, 5 1 0 0 1
Brugada syndrome 1 0 1 0 1
Brugada syndrome 1; Long QT syndrome 3; Dilated cardiomyopathy 1E 1 0 0 1
Brugada syndrome 4 0 1 0 1
CHARGE syndrome 1 0 0 1
Camptomelic dysplasia 1 0 0 1
Central core myopathy 0 1 0 1
Childhood apraxia of speech 1 0 0 1
Coffin-Siris syndrome 1 1 0 0 1
Coffin-Siris syndrome 10 0 1 0 1
Complex cortical dysplasia with other brain malformations 2 0 1 0 1
Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder 1 0 0 1
Congenital insensitivity to pain-hypohidrosis syndrome 0 1 0 1
Congenital myotonia, autosomal recessive form 0 1 0 1
Cowden syndrome 1 1 0 0 1
Dermatitis, atopic, 2; Ichthyosis vulgaris 0 1 0 1
Developmental and epileptic encephalopathy 6B 1 0 0 1
Developmental and epileptic encephalopathy 94 1 0 0 1
Developmental and epileptic encephalopathy 98 1 0 0 1
Developmental and epileptic encephalopathy, 26 0 1 0 1
Developmental and epileptic encephalopathy, 42 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
Dominant beta-thalassemia; Beta-thalassemia HBB/LCRB 1 0 0 1
Duane-radial ray syndrome 0 1 0 1
Dyskeratosis congenita, autosomal dominant 1; Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 2 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 1 0 1 0 1
Familial adenomatous polyposis 2 1 0 0 1
Fibromatosis, gingival, 1; Noonan syndrome 4 1 0 0 1
GNAS-associated disease 0 1 0 1
Genitopatellar syndrome; Blepharophimosis - intellectual disability syndrome, SBBYS type 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
Hemochromatosis type 1 1 0 0 1
Hereditary liability to pressure palsies 1 0 0 1
Hereditary spastic paraplegia 50 0 1 0 1
Hypercholesterolemia, autosomal dominant, type B 0 1 0 1
Hypercholesterolemia, autosomal dominant, type B; Familial hypobetalipoproteinemia 1 0 1 0 1
Hypertrophic cardiomyopathy 1; Myosin storage myopathy; Dilated cardiomyopathy 1S 0 1 0 1
Intellectual developmental disorder 61 0 1 0 1
Intellectual developmental disorder 62 1 0 0 1
Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities 1 0 0 1
Intellectual developmental disorder with dysmorphic facies and ptosis 0 1 0 1
Intellectual developmental disorder, X-linked 112 1 0 0 1
Intellectual disability, X-linked 1 0 1 0 1
Intellectual disability, X-linked 102 1 0 0 1
Intellectual disability, autosomal dominant 24; Intellectual disability-epilepsy-extrapyramidal syndrome 1 0 0 1
Intellectual disability, autosomal dominant 30 0 1 0 1
Intellectual disability, autosomal dominant 38; Developmental and epileptic encephalopathy, 33 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 recessive 7 1 0 0 1
Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency 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
Joubert syndrome 5 0 1 0 1
Lamb-Shaffer syndrome 1 0 0 1
Long QT syndrome 1; Short QT syndrome type 2 0 1 0 1
Lynch syndrome 1 0 1 0 1
Lynch syndrome 5; Mismatch repair cancer syndrome 3 1 0 0 1
Macrocephaly, dysmorphic facies, and psychomotor retardation 1 0 0 1
Macrocephaly-autism syndrome 1 0 0 1
Malignant hyperthermia, susceptibility to, 1 0 1 0 1
Maturity-onset diabetes of the young type 2 1 0 0 1
Meckel syndrome, type 6 0 1 0 1
Melanoma, cutaneous malignant, susceptibility to, 2 1 0 0 1
Microcephaly 3, primary, autosomal recessive 1 0 0 1
Microcephaly 5, primary, autosomal recessive 0 1 0 1
Microcephaly 6, primary, autosomal recessive; Seckel syndrome 4 0 1 0 1
Microcephaly and chorioretinopathy 2 0 1 0 1
Mitochondrial DNA depletion syndrome, myopathic form 0 1 0 1
Multiple endocrine neoplasia type 2A 0 1 0 1
Multisystemic smooth muscle dysfunction syndrome 1 0 0 1
Myhre syndrome 1 0 0 1
Neurodegeneration, childhood-onset, with hypotonia, respiratory insufficiency, and brain imaging abnormalities 0 0 1 1
Neurodevelopmental disorder with absent language and variable seizures 1 0 0 1
Neurodevelopmental disorder with epilepsy, spasticity, and brain atrophy 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
Neurodevelopmental disorder with visual defects and brain anomalies 0 1 0 1
Neurofibromatosis, type 1 1 0 0 1
Neuronal ceroid lipofuscinosis 3 1 0 0 1
Neutropenia, severe congenital, 1, autosomal dominant 0 1 0 1
Oculocutaneous albinism type 1B 1 0 0 1
PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome 0 0 1 1
Phelan-McDermid syndrome; Schizophrenia 15 1 0 0 1
Pitt-Hopkins syndrome; Corneal dystrophy, Fuchs endothelial, 3 0 1 0 1
Polycystic kidney disease 4 1 0 0 1
Progressive osseous heteroplasia 1 0 0 1
Pyruvate kinase deficiency of red cells 1 0 0 1
RFT1-congenital disorder of glycosylation 0 1 0 1
Renal-hepatic-pancreatic dysplasia 1; Nephronophthisis 3; NPHP3-related Meckel-like syndrome 0 1 0 1
Retinal cone dystrophy 3A 0 1 0 1
Rhabdoid tumor predisposition syndrome 2 1 0 0 1
Right atrial isomerism 0 1 0 1
Rubinstein-Taybi syndrome due to EP300 haploinsufficiency; Menke-Hennekam syndrome 2 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
Short stature-brachydactyly-obesity-global developmental delay syndrome 0 1 0 1
Sitosterolemia 2 1 0 0 1
Snijders Blok-Campeau syndrome 0 1 0 1
Sotos syndrome 1 0 0 1
TCF12-related craniosynostosis 1 0 0 1
Telangiectasia, hereditary hemorrhagic, type 1 1 0 0 1
Tuberous sclerosis 2 1 0 0 1
Vertebral, cardiac, tracheoesophageal, renal, and limb defects 0 1 0 1
Warburg micro syndrome 1 0 1 0 1
Wiedemann-Steiner syndrome 1 0 0 1
X-linked Opitz G/BBB syndrome 0 1 0 1
X-linked intellectual disability-psychosis-macroorchidism syndrome; Rett syndrome 1 0 0 1

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