ClinVar Miner

Variants from Institute of Human Genetics,Cologne University

Location: Germany — Primary collection method: clinical testing
Minimum submission review status: Collection method:
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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
89 60 71 4 0 224

Gene and significance breakdown #

Total genes and gene combinations: 138
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign total
PKD1 5 5 2 0 12
FBN1 3 3 1 0 7
COL4A5 2 3 1 0 6
COL1A1 5 0 0 0 5
COL4A4 1 3 1 0 5
ARID1B 2 2 0 0 4
CASR 0 0 4 0 4
COL1A2 3 1 0 0 4
IGHMBP2 2 1 1 0 4
LMX1B 2 1 1 0 4
MFN2 2 2 0 0 4
PKD2 1 1 2 0 4
COL4A3, MFF-DT 1 2 0 0 3
GDAP1 3 0 0 0 3
KMT2D 3 0 0 0 3
PLEKHG5 1 1 1 0 3
SETX 1 0 2 0 3
TSC2 2 0 1 0 3
AARS1 0 2 0 0 2
ARHGEF10 0 0 2 0 2
COL12A1 1 0 1 0 2
COL3A1 0 0 2 0 2
CTNS 0 1 1 0 2
DHTKD1 1 0 1 0 2
ECEL1 0 2 0 0 2
FUS 1 0 1 0 2
GARS1 1 0 1 0 2
HNF1B 1 1 0 0 2
KIF5C 0 0 1 1 2
LGI4 1 1 0 0 2
LRP2 2 0 0 0 2
PIEZO2 1 0 1 0 2
PKHD1 0 1 1 0 2
SLC12A3 1 0 1 0 2
SLC52A2 1 1 0 0 2
SMARCAL1 0 2 0 0 2
SOD1 2 0 0 0 2
SPG7 0 0 2 0 2
TRPV4 1 0 1 0 2
UMOD 0 1 1 0 2
ZFYVE26 1 1 0 0 2
ACTA1 1 0 0 0 1
ACTN4 0 0 1 0 1
ADAR 0 1 0 0 1
ADNP 0 0 0 1 1
AGPAT2 0 0 1 0 1
AQP2, LOC101927318 0 1 0 0 1
ATP7A 0 1 0 0 1
AVPR2 1 0 0 0 1
BBS10 1 0 0 0 1
BICD2 1 0 0 0 1
CAPN3 1 0 0 0 1
CFH 1 0 0 0 1
CFTR 1 0 0 0 1
CHD1L 0 0 1 0 1
CHD7 1 0 0 0 1
CHRNG, TIGD1 1 0 0 0 1
CLCN1 0 0 1 0 1
COL6A1 1 0 0 0 1
COL6A2 0 1 0 0 1
COL6A3 0 0 1 0 1
CRTAP 0 0 1 0 1
CYP24A1 0 1 0 0 1
DNMT3A 1 0 0 0 1
EFTUD2 0 1 0 0 1
ERCC6 1 0 0 0 1
ETFDH 0 0 1 0 1
EYA1 0 1 0 0 1
EZH2 1 0 0 0 1
FAT1 0 1 0 0 1
FBLN5 0 0 1 0 1
FBXO38 0 0 1 0 1
FH 1 0 0 0 1
FKBP10 1 0 0 0 1
FKRP 0 1 0 0 1
FLCN 1 0 0 0 1
FXN 1 0 0 0 1
GAN 1 0 0 0 1
GNA11 0 0 1 0 1
GNPTAB 0 0 1 0 1
GRHPR 0 1 0 0 1
HINT1 1 0 0 0 1
HNF4A 0 0 1 0 1
HSPB1 0 1 0 0 1
HSPD1 0 0 1 0 1
IFIH1 0 0 0 1 1
INPPL1 0 0 1 0 1
KCNH1 0 0 0 1 1
KIF1B 0 0 1 0 1
KMT2E 0 1 0 0 1
LAMB2 1 0 0 0 1
LOC107982234, WT1 1 0 0 0 1
LRP5 0 1 0 0 1
LZTR1 0 0 1 0 1
MAGEL2 0 0 1 0 1
MARS1 0 0 1 0 1
MET 0 0 1 0 1
MIAT, MN1, PITPNB, TTC28 0 0 1 0 1
MME 0 0 1 0 1
MORC2 0 1 0 0 1
MPZ 1 0 0 0 1
MTMR2 1 0 0 0 1
MYLK 0 0 1 0 1
NF1 0 0 1 0 1
NIPBL 0 0 1 0 1
NOTCH2 0 1 0 0 1
NPHP3, NPHP3-ACAD11 0 1 0 0 1
NPR2 0 1 0 0 1
P3H1 0 1 0 0 1
PDXK 1 0 0 0 1
PIGN 0 1 0 0 1
PLOD2 0 0 1 0 1
PLS3 1 0 0 0 1
PRX 1 0 0 0 1
SACS 1 0 0 0 1
SDHD 0 0 1 0 1
SERPINF1 0 0 1 0 1
SH3TC2 1 0 0 0 1
SLC12A6 0 0 1 0 1
SLC2A2 1 0 0 0 1
SLC3A1 1 0 0 0 1
SLC4A4 0 1 0 0 1
SLC5A7 0 0 1 0 1
SMAD3 0 0 1 0 1
SMARCA2 0 1 0 0 1
SON 1 0 0 0 1
SRCAP 0 0 1 0 1
SYNE1 1 0 0 0 1
TAPBPL, VAMP1 1 0 0 0 1
TGFB2 0 0 1 0 1
TGFBR1 0 1 0 0 1
TNNI3 0 0 1 0 1
TUBA1A 0 0 1 0 1
TUBB3 0 0 1 0 1
VCP 1 0 0 0 1
VHL 1 0 0 0 1
WNK4 0 0 1 0 1
ZNF469 0 0 1 0 1

Condition and significance breakdown #

Total conditions: 144
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Condition pathogenic likely pathogenic uncertain significance likely benign total
Polycystic kidney disease, adult type 5 5 2 0 12
Distal spinal muscular atrophy 0 0 9 0 9
Marfan syndrome 3 3 1 0 7
Alport syndrome 1, X-linked recessive 2 3 1 0 6
Alport syndrome 3, autosomal dominant 0 5 0 0 5
Osteogenesis imperfecta type I 5 0 0 0 5
Coffin-Siris syndrome 1 2 2 0 0 4
Hypocalciuric hypercalcemia, familial, type 1 0 0 4 0 4
Nail-patella syndrome 2 1 1 0 4
Polycystic kidney disease 2 1 1 2 0 4
Alport syndrome, autosomal recessive 2 0 1 0 3
Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2A2B 1 2 0 0 3
Charcot-Marie-Tooth disease, recessive intermediate A 3 0 0 0 3
Kabuki syndrome 1 3 0 0 0 3
Proximal spinal muscular atrophy 0 0 3 0 3
Tuberous sclerosis 2 2 0 1 0 3
Amyotrophic lateral sclerosis type 1 2 0 0 0 2
Arthrogryposis multiplex congenita, neurogenic, with myelin defect 1 1 0 0 2
Autosomal recessive axonal hereditary motor and sensory neuropathy 0 0 2 0 2
Autosomal recessive polycystic kidney disease 0 1 1 0 2
Bethlem myopathy 1 1 1 0 0 2
Brown-Vialetto-Van Laere syndrome 2 1 1 0 0 2
Charcot-Marie-Tooth disease, axonal, type 2S 1 1 0 0 2
Cortical dysplasia, complex, with other brain malformations 2 0 0 1 1 2
Distal arthrogryposis type 5D 0 2 0 0 2
Donnai Barrow syndrome 2 0 0 0 2
Familial hypokalemia-hypomagnesemia 1 0 1 0 2
Familial juvenile gout 0 1 1 0 2
Hyperuricemic nephropathy, familial juvenile, 3 1 1 0 0 2
Nephropathic cystinosis 0 1 1 0 2
Osteogenesis imperfecta, recessive perinatal lethal 1 1 0 0 2
Schimke immunoosseous dysplasia 0 2 0 0 2
Slowed nerve conduction velocity, autosomal dominant 0 0 2 0 2
Spastic paraplegia 15 1 1 0 0 2
2-aminoadipic 2-oxoadipic aciduria 1 0 0 0 1
Abnormality of the urinary system 0 0 1 0 1
Acromesomelic dysplasia Maroteaux type 0 1 0 0 1
Adolescent nephronophthisis 0 1 0 0 1
Adult proximal spinal muscular atrophy, autosomal dominant 0 0 1 0 1
Aicardi-Goutieres syndrome 6 0 1 0 0 1
Aicardi-Goutieres syndrome 7 0 0 0 1 1
Alagille syndrome 2 0 1 0 0 1
Amyotrophic lateral sclerosis 14, with or without frontotemporal dementia 1 0 0 0 1
Amyotrophic lateral sclerosis type 6 1 0 0 0 1
Aortic aneurysm, familial thoracic 7 0 0 1 0 1
Arthrogryposis, distal, with impaired proprioception and touch 1 0 0 0 1
Atypical hemolytic-uremic syndrome 1 1 0 0 0 1
Autosomal dominant intermediate Charcot-Marie-Tooth disease 0 0 1 0 1
Autosomal recessive axonal neuropathy with neuromyotonia 1 0 0 0 1
Autosomal recessive distal hereditary motor neuropathy 0 0 1 0 1
Bardet-Biedl syndrome 10 1 0 0 0 1
Bone mineral density quantitative trait locus 18 1 0 0 0 1
Brittle cornea syndrome 1 0 0 1 0 1
Bruck syndrome 2 0 0 1 0 1
CHARGE association 1 0 0 0 1
Charcot-Marie-Tooth disease dominant intermediate 3 1 0 0 0 1
Charcot-Marie-Tooth disease type 2C 0 0 1 0 1
Charcot-Marie-Tooth disease, axonal, type 2Q 0 0 1 0 1
Charcot-Marie-Tooth disease, axonal, type 2z 0 1 0 0 1
Charcot-Marie-Tooth disease, demyelinating, type 4F 1 0 0 0 1
Charcot-Marie-Tooth disease, type 2 0 0 1 0 1
Charcot-Marie-Tooth disease, type 2A2A 1 0 0 0 1
Charcot-Marie-Tooth disease, type 2N 0 1 0 0 1
Charcot-Marie-Tooth disease, type 4B1 1 0 0 0 1
Charcot-Marie-Tooth disease, type 4C 1 0 0 0 1
Cockayne syndrome B 1 0 0 0 1
Congenital generalized lipodystrophy type 1 0 0 1 0 1
Congenital myasthenic syndrome 1 0 0 0 1
Cornelia de Lange syndrome 1 0 0 1 0 1
Cystic fibrosis 1 0 0 0 1
Cystinuria 1 0 0 0 1
Distal hereditary motor neuronopathy type 2B 0 1 0 0 1
Distal hereditary motor neuronopathy type 5 1 0 0 0 1
Distal spinal muscular atrophy, X-linked 3 0 1 0 0 1
Distal spinal muscular atrophy, autosomal recessive 4 0 1 0 0 1
Distal spinal muscular atrophy, congenital nonprogressive 1 0 0 0 1
Ehlers-Danlos syndrome, type 4 0 0 1 0 1
Epileptic encephalopathy, early infantile, 29 0 1 0 0 1
Familial restrictive cardiomyopathy 1 0 0 1 0 1
Fanconi-Bickel syndrome 1 0 0 0 1
Fibrosis of extraocular muscles, congenital, 3a, with or without extraocular involvement 0 0 1 0 1
Finnish congenital nephrotic syndrome 0 1 0 0 1
Floating-Harbor syndrome 0 0 1 0 1
Focal segmental glomerulosclerosis 1 0 0 1 0 1
Friedreich ataxia 1 1 0 0 0 1
Giant axonal neuropathy 1 1 0 0 0 1
Growth and mental retardation, mandibulofacial dysostosis, microcephaly, and cleft palate 0 1 0 0 1
Helsmoortel-Van der Aa Syndrome 0 0 0 1 1
Hypercalcemia, infantile, 1 0 1 0 0 1
Hypocalciuric hypercalcemia, familial, type II 0 0 1 0 1
I cell disease 0 0 1 0 1
Intellectual disability 0 0 1 0 1
Lethal multiple pterygium syndrome 1 0 0 0 1
Limb-girdle muscular dystrophy, type 2A 1 0 0 0 1
Limb-girdle muscular dystrophy-dystroglycanopathy, type C5 0 1 0 0 1
Lissencephaly 3 0 0 1 0 1
Loeys-Dietz syndrome 1 0 1 0 0 1
Loeys-Dietz syndrome 3 0 0 1 0 1
Loeys-Dietz syndrome 4 0 0 1 0 1
Maturity-onset diabetes of the young, type 1 0 0 1 0 1
Melnick-Fraser syndrome 0 1 0 0 1
Mental Retardation 0 1 0 0 1
Motor neuron disease 0 0 1 0 1
Multiple congenital anomalies-hypotonia-seizures syndrome 1 0 1 0 0 1
Multiple cutaneous leiomyomas 1 0 0 0 1
Multiple fibrofolliculomas 1 0 0 0 1
Myopathy, scapulohumeroperoneal 1 0 0 0 1
NEUROPATHY, HEREDITARY MOTOR AND SENSORY, TYPE VIC, WITH OPTIC ATROPHY 1 0 0 0 1
Nephrogenic diabetes insipidus, X-linked 1 0 0 0 1
Nephrogenic diabetes insipidus, autosomal 0 1 0 0 1
Neurofibromatosis, type 1 0 0 1 0 1
Nicolaides-Baraitser syndrome 0 1 0 0 1
Noonan syndrome 10 0 0 1 0 1
Opsismodysplasia 0 0 1 0 1
Osteogenesis imperfecta 1 0 0 0 1
Osteogenesis imperfecta type 7 0 0 1 0 1
Osteogenesis imperfecta type 8 0 1 0 0 1
Osteogenesis imperfecta with normal sclerae, dominant form 1 0 0 0 1
Osteogenesis imperfecta, type VI 0 0 1 0 1
Osteogenesis imperfecta, type XI 1 0 0 0 1
Pheochromocytoma 0 0 1 0 1
Pierson syndrome 1 0 0 0 1
Postmenopausal osteoporosis 0 1 0 0 1
Primary hyperoxaluria, type II 0 1 0 0 1
Pseudohypoaldosteronism type 2B 0 0 1 0 1
Renal cell carcinoma, papillary, 1 0 0 1 0 1
Renal tubular acidosis, proximal, with ocular abnormalities and mental retardation 0 1 0 0 1
Schaaf-yang syndrome 0 0 1 0 1
Spastic ataxia Charlevoix-Saguenay type 1 0 0 0 1
Spastic paraplegia 13 0 0 1 0 1
Spinal muscular atrophy, distal, autosomal recessive, 1 1 0 0 0 1
Spinal muscular atrophy, facioscapulohumeral type 1 0 0 0 1
Spinal muscular atrophy, lower extremity-predominant, 2A, autosomal dominant 1 0 0 0 1
Spinocerebellar ataxia, autosomal recessive 8 1 0 0 0 1
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 1 0 0 0 1
Tatton-Brown-rahman syndrome 1 0 0 0 1
Temple-Baraitser syndrome 0 0 0 1 1
Ullrich congenital muscular dystrophy 2 1 0 0 0 1
Von Hippel-Lindau syndrome 1 0 0 0 1
Weaver syndrome 1 0 0 0 1
Wilms tumor 1 1 0 0 0 1
ZTTK syndrome 1 0 0 0 1
autosomal recessive PIEZO2 associated disease 0 0 1 0 1
not specified 0 0 1 0 1

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