ClinVar Miner

Variants from Institute of Human Genetics,Klinikum rechts der Isar

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
411 94 1 0 0 506

Gene and significance breakdown #

Total genes and gene combinations: 232
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Gene or gene combination pathogenic likely pathogenic uncertain significance total
PHEX 63 0 1 64
PHEX, PTCHD1 45 1 0 46
NR0B1 21 0 0 21
SLC34A3 11 1 0 12
ECHS1 6 2 0 8
MTO1 2 4 0 6
AARS2 3 2 0 5
FARSB 5 0 0 5
FBXL4 3 2 0 5
FGF23 5 0 0 5
PDHA1 3 2 0 5
USP8 5 0 0 5
CHD7 3 1 0 4
ELAC2 2 2 0 4
ENPP1 4 0 0 4
GTPBP3 1 3 0 4
MC2R 4 0 0 4
SPATA5 2 2 0 4
VARS2 1 3 0 4
ATP1A1 3 0 0 3
ATP2B3 3 0 0 3
CAD 2 1 0 3
COQ4 2 1 0 3
EPG5 3 0 0 3
ETHE1 3 0 0 3
FARS2 1 2 0 3
KCNQ2 1 2 0 3
KMT2B 3 0 0 3
KMT2D 2 1 0 3
MARS 3 0 0 3
MRAP 3 0 0 3
NDUFS4 3 0 0 3
PKHD1 2 1 0 3
POLG 3 0 0 3
SCN2A 3 0 0 3
SPAST 3 0 0 3
UQCRFS1 3 0 0 3
WDR45 1 2 0 3
ADAR 1 1 0 2
ARID1B 2 0 0 2
ARSA 2 0 0 2
BBS12 2 0 0 2
BRAF 2 0 0 2
CDKL5 1 1 0 2
CHRNE 1 1 0 2
CYP21A2, LOC106780800 2 0 0 2
DGUOK 2 0 0 2
DHCR7 2 0 0 2
DMP1 2 0 0 2
DONSON 1 1 0 2
EARS2 2 0 0 2
EVC 2 0 0 2
FBXO7 2 0 0 2
FUCA1 1 1 0 2
HEXA 2 0 0 2
HIBCH 0 2 0 2
HMGCS2 2 0 0 2
MECP2 1 1 0 2
MMUT 1 1 0 2
MVK 1 1 0 2
MYH7 2 0 0 2
NFU1 2 0 0 2
PEX1 1 1 0 2
PIGN 2 0 0 2
POMT1 2 0 0 2
PRKACA 2 0 0 2
PURA 2 0 0 2
RARS2 1 1 0 2
RYR1 2 0 0 2
SFXN4 2 0 0 2
SLC37A4 2 0 0 2
SOX9 1 1 0 2
SURF1 2 0 0 2
TAB2 1 1 0 2
TIMM50 2 0 0 2
TMEM70 2 0 0 2
TPK1 1 1 0 2
TPP1 1 1 0 2
TWNK 2 0 0 2
TXNL4A 2 0 0 2
UBE3B 2 0 0 2
ACTA1 0 1 0 1
ACTB 0 1 0 1
ADNP2, ATP9B, CTDP1, GALR1, HSBP1L1, KCNG2, LINC00683, LINC01879, MBP, NFATC1, PARD6G, RBFA, SALL3, SLC66A2, TXNL4A, ZNF236, ZNF516 1 0 0 1
ADNP2, ATP9B, CTDP1, HSBP1L1, KCNG2, NFATC1, PARD6G, RBFA, SLC66A2, TXNL4A 1 0 0 1
ADNP2, CTDP1, HSBP1L1, KCNG2, RBFA, SLC66A2, TXNL4A 1 0 0 1
AGK 1 0 0 1
AGK, DENND11 0 1 0 1
AHDC1 1 0 0 1
AMPD2 1 0 0 1
AP4S1 1 0 0 1
ASXL1 1 0 0 1
ATP1A3 1 0 0 1
ATP6V1E1 1 0 0 1
B3GALNT2 1 0 0 1
BCAP31 1 0 0 1
BCS1L 1 0 0 1
CACNA1A 0 1 0 1
CALM2 1 0 0 1
CASD1, SGCE 0 1 0 1
CBLL2, PHEX, PTCHD1 1 0 0 1
CDC42 0 1 0 1
CFTR 1 0 0 1
CHD8 1 0 0 1
CLCN2 1 0 0 1
CLCN5 1 0 0 1
CNNM2 1 0 0 1
COL13A1 0 1 0 1
COL2A1 1 0 0 1
COL9A3 0 1 0 1
COQ9 1 0 0 1
CPS1 1 0 0 1
CXorf21, DMD, FTHL17, GK, IL1RAPL1, LOC108410393, LOC113875019, MAGEB1, MAGEB2, MAGEB3, MAGEB4, MIR3915, MIR4666B, MIR6134, NR0B1, TAB3 1 0 0 1
CXorf21, DMD, FTHL17, GK, LOC108410393, LOC113875019, MAGEB1, MAGEB2, MAGEB3, MAGEB4, NR0B1, TAB3 1 0 0 1
CXorf21, IL1RAPL1, LOC108410393, LOC113875019, MAGEB1, MAGEB2, MAGEB3, MAGEB4, MIR4666B, NR0B1 1 0 0 1
DMD 1 0 0 1
DNM1L, YARS2 1 0 0 1
DUPD1, KAT6B 1 0 0 1
DYNC1H1 0 1 0 1
ECEL1 1 0 0 1
EIF2S3 0 1 0 1
EPCAM 1 0 0 1
ETFDH 1 0 0 1
EXOSC3 1 0 0 1
F8 0 1 0 1
FA2H 1 0 0 1
FAM83H 1 0 0 1
FANCA 1 0 0 1
FBN1 1 0 0 1
FKRP 1 0 0 1
FOXRED1 1 0 0 1
FRRS1L 1 0 0 1
GAA 1 0 0 1
GATAD1, PEX1 1 0 0 1
GFAP 1 0 0 1
GFM1 1 0 0 1
GLDN 1 0 0 1
GNAO1 1 0 0 1
GNB4 1 0 0 1
GRID2 0 1 0 1
GRIN2A 0 1 0 1
GRN 1 0 0 1
GUCY2D 1 0 0 1
HNRNPH2, RPL36A-HNRNPH2 1 0 0 1
HSD17B10 1 0 0 1
ISCA2 1 0 0 1
ITPA 1 0 0 1
KCNC1 0 1 0 1
KCNH1 1 0 0 1
KCNH2 0 1 0 1
KIF11 1 0 0 1
KIF5C 1 0 0 1
KRT16 1 0 0 1
LMNA 0 1 0 1
LOC102724058, SCN1A 0 1 0 1
LOC108410393, NR0B1 1 0 0 1
LRPPRC 1 0 0 1
LRRK2 1 0 0 1
MAG 1 0 0 1
MEA1, PPP2R5D 1 0 0 1
MED13L 0 1 0 1
MEF2C 1 0 0 1
MFN2 0 1 0 1
MFSD8 0 1 0 1
MHRT, MYH7 1 0 0 1
MPC1 0 1 0 1
MPDU1 0 1 0 1
MPZ 1 0 0 1
MTFMT 1 0 0 1
MTM1 1 0 0 1
MYLK 0 1 0 1
NAA10 0 1 0 1
NCAPH2, SCO2 1 0 0 1
NDUFS8 0 1 0 1
NEB 1 0 0 1
NF1 1 0 0 1
NPHP3-ACAD11, UBA5 0 1 0 1
NPHS1 0 1 0 1
NSD1 1 0 0 1
OSTM1 1 0 0 1
PBX1 1 0 0 1
PDHX 1 0 0 1
PHF6 1 0 0 1
PHKA2 0 1 0 1
PIGA 0 1 0 1
PLA2G6 1 0 0 1
PLP1, RAB9B 1 0 0 1
PPP2R1A 1 0 0 1
PRUNE1 1 0 0 1
PTCH1 1 0 0 1
PTPN11 1 0 0 1
RAF1 1 0 0 1
RIT1 0 1 0 1
SACS 0 1 0 1
SCN1A, SCN9A 1 0 0 1
SCN8A 0 1 0 1
SCP2 0 1 0 1
SDR9C7 1 0 0 1
SERAC1 0 1 0 1
SLC12A3 0 1 0 1
SLC19A3 1 0 0 1
SLC25A12 0 1 0 1
SLC25A19 0 1 0 1
SLC25A4 1 0 0 1
SLC25A46 0 1 0 1
SLC2A1 1 0 0 1
SMARCA4 1 0 0 1
SMARCB1 1 0 0 1
SPTBN2 0 1 0 1
SUMF1 1 0 0 1
TASP1 1 0 0 1
TAZ 0 1 0 1
TBC1D7, TBC1D7-LOC100130357 1 0 0 1
TBX1 0 1 0 1
TBX19 1 0 0 1
TBX5 1 0 0 1
TCF4 1 0 0 1
TGFBR1 0 1 0 1
TNNI3 1 0 0 1
TRAPPC11 1 0 0 1
TRMU 1 0 0 1
TUBA1A 1 0 0 1
TUBB4A 1 0 0 1
TUFM 0 1 0 1
UBTF 1 0 0 1
UMOD 1 0 0 1
UNC80 1 0 0 1
UPF3B 1 0 0 1
USP9X 1 0 0 1
WFS1 1 0 0 1
ZC4H2 1 0 0 1
ZEB2 1 0 0 1

Condition and significance breakdown #

Total conditions: 219
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Condition pathogenic likely pathogenic uncertain significance total
Familial X-linked hypophosphatemic vitamin D refractory rickets 109 1 1 111
Congenital adrenal hypoplasia, X-linked 25 0 0 25
Autosomal recessive hypophosphatemic bone disease 11 1 0 12
Mitochondrial short-chain enoyl-coa hydratase 1 deficiency 6 2 0 8
ACTH resistance 7 0 0 7
Aldosterone Producing Adrenal Cortex Adenoma 6 0 0 6
Combined oxidative phosphorylation deficiency 10 2 4 0 6
Combined oxidative phosphorylation deficiency 8 3 2 0 5
Dilatation; Cerebral calcification; Interstitial pneumonitis; Liver cirrhosis 5 0 0 5
Leigh syndrome 4 1 0 5
Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type) 3 2 0 5
Pituitary dependent hypercortisolism 5 0 0 5
Pyruvate dehydrogenase E1-alpha deficiency 3 2 0 5
CHARGE association 3 1 0 4
Combined oxidative phosphorylation deficiency 17 2 2 0 4
Combined oxidative phosphorylation deficiency 20 1 3 0 4
Combined oxidative phosphorylation deficiency 23 1 3 0 4
Epilepsy, hearing loss, and mental retardation syndrome 2 2 0 4
Hypophosphatemic rickets, autosomal recessive, 2 4 0 0 4
Autosomal recessive polycystic kidney disease 2 1 0 3
Cardiomyopathy; Lactic acidosis; Propionicacidemia 3 0 0 3
Cerebellar ataxia infantile with progressive external ophthalmoplegia 3 0 0 3
Coenzyme Q10 deficiency, primary, 7 2 1 0 3
Combined oxidative phosphorylation deficiency 14 1 2 0 3
Dystonia 28, childhood-onset 3 0 0 3
Early infantile epileptic encephalopathy 11 3 0 0 3
Epileptic encephalopathy, early infantile, 50 2 1 0 3
Ethylmalonic encephalopathy 3 0 0 3
Kabuki syndrome 1 2 1 0 3
Neurodegeneration with brain iron accumulation 5 1 2 0 3
Peroxisome biogenesis disorder 1A (Zellweger) 2 1 0 3
Pulmonary alveolar proteinosis 3 0 0 3
Spastic paraplegia 4, autosomal dominant 3 0 0 3
Tumoral calcinosis, familial, hyperphosphatemic 3 0 0 3
Vici syndrome 3 0 0 3
3-METHYLGLUTACONIC ACIDURIA, TYPE IX 2 0 0 2
Aicardi-Goutieres syndrome 6 1 1 0 2
Autosomal dominant hypophosphatemic rickets 2 0 0 2
Autosomal recessive hypophosphatemic vitamin D refractory rickets 2 0 0 2
Bardet-Biedl syndrome 12 2 0 0 2
Beta-hydroxyisobutyryl-CoA deacylase deficiency 0 2 0 2
Burn-McKeown syndrome 2 0 0 2
Camptomelic dysplasia 1 1 0 2
Cardiofaciocutaneous syndrome 1 2 0 0 2
Ceroid lipofuscinosis neuronal 2 1 1 0 2
Chondroectodermal dysplasia 2 0 0 2
Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency 2 0 0 2
Coffin-Siris syndrome 1 2 0 0 2
Combined oxidative phosphorylation deficiency 12 2 0 0 2
Combined oxidative phosphorylation deficiency 18 2 0 0 2
Congenital heart defects, multiple types, 2 1 1 0 2
Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B1 2 0 0 2
Early infantile epileptic encephalopathy 2 1 1 0 2
Early infantile epileptic encephalopathy 7 1 1 0 2
Fucosidosis 1 1 0 2
Glucose-6-phosphate transport defect 2 0 0 2
Kaufman oculocerebrofacial syndrome 2 0 0 2
MICROCEPHALY, SHORT STATURE, AND LIMB ABNORMALITIES 1 1 0 2
Mental retardation, autosomal dominant 31 2 0 0 2
Metachromatic leukodystrophy 2 0 0 2
Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency 1 1 0 2
Mevalonic aciduria 1 1 0 2
Minicore myopathy 2 0 0 2
Mitochondrial DNA depletion syndrome 7 (hepatocerebral type) 2 0 0 2
Mitochondrial DNA-depletion syndrome 3, hepatocerebral 2 0 0 2
Mitochondrial complex I deficiency 2 0 0 2
Multiple congenital anomalies-hypotonia-seizures syndrome 1 2 0 0 2
Multiple mitochondrial dysfunctions syndrome 1 2 0 0 2
Myasthenic syndrome, congenital, associated with acetylcholine receptor deficiency 1 1 0 2
Myopathy, distal, 1 2 0 0 2
Nuclearly-encoded mitochondrial complex V (ATP synthase) deficiency 2 2 0 0 2
Parkinson disease 15 2 0 0 2
Pigmented nodular adrenocortical disease, primary, 4 2 0 0 2
Pontocerebellar hypoplasia type 6 1 1 0 2
Rett syndrome 1 1 0 2
Sengers syndrome 1 1 0 2
Smith-Lemli-Opitz syndrome 2 0 0 2
Tay-Sachs disease 2 0 0 2
Thiamine metabolism dysfunction syndrome 5 (episodic encephalopathy type) 1 1 0 2
mitochondrial 3-hydroxy-3-methylglutaryl-CoA synthase deficiency 2 0 0 2
2-methyl-3-hydroxybutyric aciduria 1 0 0 1
3-Methylglutaconic aciduria type 2 0 1 0 1
3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome 0 1 0 1
Achondrogenesis, type II 1 0 0 1
Acromicric dysplasia 1 0 0 1
Adrenocorticotropic hormone deficiency 1 0 0 1
Alexander Disease 1 0 0 1
Alternating hemiplegia of childhood 2 1 0 0 1
Amelogenesis imperfecta, hypocalcification type 1 0 0 1
Aortic aneurysm, familial thoracic 7 0 1 0 1
Autism, susceptibility to, 18 1 0 0 1
Baraitser-Winter syndrome 1 0 1 0 1
Benign familial neonatal seizures 1 0 1 0 1
Benign scapuloperoneal muscular dystrophy with cardiomyopathy 0 1 0 1
Biotin-thiamine-responsive basal ganglia disease 1 0 0 1
Borjeson-Forssman-Lehmann syndrome 1 0 0 1
C-like syndrome 1 0 0 1
CONGENITAL ANOMALIES OF KIDNEY AND URINARY TRACT SYNDROME WITH OR WITHOUT HEARING LOSS, ABNORMAL EARS, OR DEVELOPMENTAL DELAY 1 0 0 1
CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIC 1 0 0 1
Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1 0 0 1
Ceroid lipofuscinosis neuronal 7 0 1 0 1
Charcot-Marie-Tooth disease, dominant intermediate F 1 0 0 1
Chromosome Xq28 deletion syndrome 1 0 0 1
Coenzyme Q10 deficiency, primary, 5 1 0 0 1
Combined oxidative phosphorylation deficiency 1 1 0 0 1
Combined oxidative phosphorylation deficiency 15 1 0 0 1
Combined oxidative phosphorylation deficiency 4 0 1 0 1
Cone-rod dystrophy 6 1 0 0 1
Congenital disorder of glycosylation type 1F 0 1 0 1
Congenital hyperammonemia, type I 1 0 0 1
Cortical dysplasia, complex, with other brain malformations 2 1 0 0 1
Cystic fibrosis 1 0 0 1
Dejerine-Sottas disease 1 0 0 1
Dent disease 1 1 0 0 1
Diarrhea 5, with tufting enteropathy, congenital 1 0 0 1
Dilated cardiomyopathy 1S 1 0 0 1
Dilated cardiomyopathy 3B 1 0 0 1
Distal arthrogryposis type 5D 1 0 0 1
Early infantile epileptic encephalopathy 13 0 1 0 1
Early infantile epileptic encephalopathy 17 1 0 0 1
Encephalopathy due to defective mitochondrial and peroxisomal fission 1 1 0 0 1
Epilepsy, focal, with speech disorder and with or without mental retardation 0 1 0 1
Epilepsy, progressive myoclonic 7 0 1 0 1
Epileptic encephalopathy, early infantile, 35 1 0 0 1
Epileptic encephalopathy, early infantile, 37 1 0 0 1
Epileptic encephalopathy, early infantile, 42 0 1 0 1
Epileptic encephalopathy, early infantile, 44 0 1 0 1
Familial hypertrophic cardiomyopathy 7 1 0 0 1
Familial hypokalemia-hypomagnesemia 0 1 0 1
Familial juvenile gout 1 0 0 1
Fanconi anemia, complementation group A 1 0 0 1
Finnish congenital nephrotic syndrome 0 1 0 1
Frontotemporal dementia, ubiquitin-positive 1 0 0 1
GLUT1 deficiency syndrome 1 1 0 0 1
GRACILE syndrome 1 0 0 1
Generalized epilepsy with febrile seizures plus, type 2 0 1 0 1
Global developmental delay 1 0 0 1
Glutaric aciduria, type 2 1 0 0 1
Glycogen storage disease type IXa1 0 1 0 1
Glycogen storage disease, type II 1 0 0 1
Gorlin syndrome 1 0 0 1
Hereditary factor VIII deficiency disease 0 1 0 1
Hereditary motor and sensory neuropathy with optic atrophy 0 1 0 1
Holt-Oram syndrome 1 0 0 1
Hyperaldosteronism, familial, type II 1 0 0 1
Hypomagnesemia, seizures, and mental retardation 1 0 0 1
Hypomyelination, global cerebral 0 1 0 1
Hypotonia, infantile, with psychomotor retardation and characteristic facies 2 1 0 0 1
ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 13 1 0 0 1
Indifference to pain, congenital, autosomal recessive 1 0 0 1
Leigh syndrome, French Canadian type 1 0 0 1
Lethal congenital contracture syndrome 11 1 0 0 1
Leukodystrophy, hypomyelinating, 6 1 0 0 1
Leukoencephalopathy with dystonia and motor neuropathy 0 1 0 1
Limb-girdle muscular dystrophy, type 2S 1 0 0 1
Limb-girdle muscular dystrophy-dystroglycanopathy, type C5 1 0 0 1
Lissencephaly 3 1 0 0 1
Liver failure acute infantile 1 0 0 1
Loeys-Dietz syndrome 1 0 1 0 1
Long QT syndrome 15 1 0 0 1
Long QT syndrome 2 0 1 0 1
MEHMO syndrome 0 1 0 1
Macrocephalus 1 0 0 1
Mental retardation and distinctive facial features with or without cardiac defects 0 1 0 1
Mental retardation, X-linked 99, syndromic, female-restricted 1 0 0 1
Mental retardation, X-linked, syndromic, Bain type 1 0 0 1
Mental retardation, autosomal dominant 13 0 1 0 1
Mental retardation, autosomal dominant 15 1 0 0 1
Mental retardation, autosomal dominant 16 1 0 0 1
Mental retardation, autosomal dominant 35 1 0 0 1
Mental retardation, autosomal dominant 36 1 0 0 1
Mental retardation, stereotypic movements, epilepsy, and/or cerebral malformations 1 0 0 1
Mental retardation, syndromic 14, X-linked 1 0 0 1
Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation 1 0 0 1
Mitochondrial DNA depletion syndrome 12b (cardiomyopathic type), autosomal recessive 1 0 0 1
Mitochondrial pyruvate carrier deficiency 0 1 0 1
Mowat-Wilson syndrome 1 0 0 1
Multiple congenital anomalies-hypotonia-seizures syndrome 2 0 1 0 1
Multiple epiphyseal dysplasia 3 0 1 0 1
Multiple mitochondrial dysfunctions syndrome 4 1 0 0 1
Multiple sulfatase deficiency 1 0 0 1
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11 1 0 0 1
Myasthenic syndrome, congenital, 19 0 1 0 1
Myoclonic dystonia 0 1 0 1
N-terminal acetyltransferase deficiency 0 1 0 1
NEURODEGENERATION, CHILDHOOD-ONSET, WITH BRAIN ATROPHY 1 0 0 1
NEUROPATHY, HEREDITARY MOTOR AND SENSORY, TYPE VIB 0 1 0 1
Nemaline myopathy 2 1 0 0 1
Nemaline myopathy 3 0 1 0 1
Neurodegeneration with brain iron accumulation 2b 1 0 0 1
Neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies 1 0 0 1
Neurofibromatosis, type 1 1 0 0 1
Noonan syndrome 1 1 0 0 1
Noonan syndrome 5 1 0 0 1
Noonan syndrome 8 0 1 0 1
Osteopetrosis, autosomal recessive 5 1 0 0 1
Pachyonychia congenita 1 1 0 0 1
Parkinson disease 8, autosomal dominant 1 0 0 1
Pitt-Hopkins syndrome 1 0 0 1
Pontocerebellar hypoplasia, type 1b 1 0 0 1
Pontocerebellar hypoplasia, type 9 1 0 0 1
Pyruvate dehydrogenase E3-binding protein deficiency 1 0 0 1
Severe X-linked myotubular myopathy 1 0 0 1
Sotos syndrome 1 1 0 0 1
Spastic ataxia Charlevoix-Saguenay type 0 1 0 1
Spastic paraplegia 2 1 0 0 1
Spastic paraplegia 35 1 0 0 1
Spastic paraplegia 52, autosomal recessive 1 0 0 1
Spastic paraplegia 75, autosomal recessive 1 0 0 1
Spinocerebellar ataxia 5 0 1 0 1
Spinocerebellar ataxia, autosomal recessive 18 0 1 0 1
Striatal necrosis, bilateral, and progressive polyneuropathy 0 1 0 1
Takenouchi-Kosaki syndrome 0 1 0 1
Tetralogy of Fallot 0 1 0 1
Wieacker Wolff syndrome 1 0 0 1
Wolfram-like syndrome, autosomal dominant 1 0 0 1
Xia-Gibbs syndrome 1 0 0 1
Young Simpson syndrome 1 0 0 1
Zimmermann-Laband syndrome 1 1 0 0 1

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