ClinVar Miner

Variants from Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare

Location: Germany — Primary collection method: clinical testing
Minimum submission review status: Collection method:
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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
215 179 159 1 0 553

Gene and significance breakdown #

Total genes and gene combinations: 218
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign total
COL4A5 17 19 10 0 46
PKD1 19 11 16 0 46
COL4A4 7 18 20 0 45
COL4A3, LOC654841 6 10 14 0 29
CUBN 2 7 5 0 14
LOC105371049, PKD1 6 2 5 0 13
USH2A 5 3 0 0 8
ABCA4 5 2 0 0 7
INF2 5 0 2 0 7
PKD2 6 1 0 0 7
BEST1 3 3 0 0 6
PKHD1 1 5 0 0 6
BRCA1 4 1 0 0 5
COL1A1 4 1 0 0 5
MYH9 1 0 4 0 5
TRPC6 0 1 4 0 5
ADGRV1 2 0 2 0 4
CD46 2 2 0 0 4
CFH 2 2 0 0 4
DGKE 2 2 0 0 4
LMX1B 3 1 0 0 4
NPHS2 2 2 0 0 4
SLC34A3 1 1 2 0 4
WT1 2 1 1 0 4
ACTN4 0 2 1 0 3
AGL 1 2 0 0 3
C3 1 1 1 0 3
CFB 0 0 3 0 3
CFI 0 1 2 0 3
CRB2 0 0 3 0 3
EYS 2 0 1 0 3
FGFR3 3 0 0 0 3
GAA 2 0 1 0 3
GCK 0 1 2 0 3
HOGA1 1 1 1 0 3
IMPG2 2 1 0 0 3
MYO15A 2 0 1 0 3
MYO7A 1 2 0 0 3
NPHS1 1 2 0 0 3
SLC34A1 1 2 0 0 3
SLC5A2 1 2 0 0 3
SMARCAL1 2 1 0 0 3
ADAMTS13 0 2 0 0 2
ALDOB 2 0 0 0 2
ANLN 0 0 2 0 2
BCKDHB 0 2 0 0 2
BRCA2 1 1 0 0 2
C12orf43, HNF1A 1 1 0 0 2
CD2AP 1 0 1 0 2
CDH23 2 0 0 0 2
CHD7 0 1 1 0 2
COL2A1 0 1 1 0 2
CREBBP 0 1 1 0 2
CYP11B1, LOC106799833 0 0 2 0 2
EVC 1 1 0 0 2
FREM2 2 0 0 0 2
GLA, RPL36A-HNRNPH2 0 1 1 0 2
HNF1B 1 0 1 0 2
HPGD 1 1 0 0 2
JAG1 1 0 1 0 2
KCNQ1 2 0 0 0 2
LDLR 1 1 0 0 2
LOC107982234, WT1 0 0 2 0 2
NF1 2 0 0 0 2
NOTCH3 0 0 2 0 2
NUP93 1 1 0 0 2
PNPO 1 0 1 0 2
PROC 2 0 0 0 2
PRPF31 1 0 1 0 2
PRPH2 1 1 0 0 2
RSPO4 2 0 0 0 2
SHOX 0 0 1 1 2
SLC12A1 1 1 0 0 2
SLC12A3 1 1 0 0 2
TRPM1 0 1 1 0 2
TSC2 0 1 1 0 2
TTLL5 1 1 0 0 2
USH1C 1 1 0 0 2
VIPAS39 1 1 0 0 2
ABCC8 0 1 0 0 1
ABHD12 0 1 0 0 1
ACADVL 1 0 0 0 1
ADA2 0 1 0 0 1
ALAD 0 0 1 0 1
ANOS1 0 0 1 0 1
ARHGAP24 0 0 1 0 1
ASS1 0 1 0 0 1
AVP 0 1 0 0 1
AVPR2 1 0 0 0 1
AXDND1, NPHS2 1 0 0 0 1
B3GALT6 1 0 0 0 1
BBS1, ZDHHC24 0 1 0 0 1
BBS4 1 0 0 0 1
BBS9 0 1 0 0 1
BCKDHA 0 1 0 0 1
BSCL2, HNRNPUL2-BSCL2 0 1 0 0 1
CA2 1 0 0 0 1
CACNA1F 0 1 0 0 1
CASR 0 0 1 0 1
CBS 1 0 0 0 1
CDKN1C 0 0 1 0 1
CEP290 1 0 0 0 1
CERKL 1 0 0 0 1
CERKL, ITGA4 1 0 0 0 1
CHM 0 0 1 0 1
CLCN5 0 0 1 0 1
CLCN7 1 0 0 0 1
CLCNKB, LOC106501713 1 0 0 0 1
CLDN14 0 1 0 0 1
CLDN16 1 0 0 0 1
CLRN1 0 0 1 0 1
CNGB1 0 1 0 0 1
COL17A1 1 0 0 0 1
COL1A2 1 0 0 0 1
COL5A2 0 0 1 0 1
COL7A1 1 0 0 0 1
COQ2 0 1 0 0 1
COQ8B 1 0 0 0 1
CRB1 0 1 0 0 1
CRX 0 1 0 0 1
DIAPH1 0 0 1 0 1
DNAH5 0 1 0 0 1
DRAM2 0 1 0 0 1
DSP 0 0 1 0 1
EDA 1 0 0 0 1
EIF2AK3 0 0 1 0 1
ELP4, PAX6 0 0 1 0 1
EPG5 0 0 1 0 1
ETFDH 0 1 0 0 1
EYA1 1 0 0 0 1
FGFR2 1 0 0 0 1
FKBP10 1 0 0 0 1
FLNA 1 0 0 0 1
FOXL2 1 0 0 0 1
GCDH 1 0 0 0 1
GDF5, GDF5OS 0 1 0 0 1
GHR 0 1 0 0 1
GLI2 1 0 0 0 1
GPR179 1 0 0 0 1
GRXCR1 1 0 0 0 1
GUCY2D 0 1 0 0 1
HADHB 0 0 1 0 1
HBB, LOC106099062, LOC107133510 0 0 1 0 1
HEXB 1 0 0 0 1
HNF4A 0 1 0 0 1
HSD11B2 0 0 1 0 1
HUWE1 1 0 0 0 1
IFITM5 0 1 0 0 1
KCND3 0 0 1 0 1
KIF11 1 0 0 0 1
KIRREL2, NPHS1 0 0 1 0 1
KMT2D 0 0 1 0 1
KRT1 1 0 0 0 1
KRT5 0 1 0 0 1
LAMB2 1 0 0 0 1
LOC102723833, USH2A 0 0 1 0 1
LOC107548112, REN 0 1 0 0 1
LOC111811965, NF1 0 1 0 0 1
LRRK2 1 0 0 0 1
MCCC2 0 0 1 0 1
MECP2 1 0 0 0 1
MERTK 1 0 0 0 1
MKKS 1 0 0 0 1
MLH1 0 1 0 0 1
MMAB 0 1 0 0 1
MMACHC 1 0 0 0 1
MYBPC3 1 0 0 0 1
NEXN 0 1 0 0 1
NOC3L, PLCE1 0 0 1 0 1
NOG 0 1 0 0 1
NPHP4 1 0 0 0 1
NR3C2 0 1 0 0 1
OAT 1 0 0 0 1
OSGEP 0 0 1 0 1
P3H1 1 0 0 0 1
PALB2 0 0 1 0 1
PAX2 0 0 1 0 1
PAX4 0 0 1 0 1
PAX6 1 0 0 0 1
PDE6B 1 0 0 0 1
PDE6C 0 1 0 0 1
PHEX 1 0 0 0 1
PHKA2 0 1 0 0 1
PLCE1 0 0 1 0 1
PNLIP 0 1 0 0 1
POLR2F, SOX10 1 0 0 0 1
PRPF31, TFPT 1 0 0 0 1
RAX2 0 0 1 0 1
RFT1 0 1 0 0 1
RP1 1 0 0 0 1
RP1L1 0 1 0 0 1
RPGR 1 0 0 0 1
RPGRIP1L 1 0 0 0 1
RUNX2 1 0 0 0 1
SCN5A 0 0 1 0 1
SEC63 1 0 0 0 1
SERPINF1 1 0 0 0 1
SGPL1 0 1 0 0 1
SHANK3 0 0 1 0 1
SLC22A5 0 1 0 0 1
SLC2A2 1 0 0 0 1
SLC37A4 0 1 0 0 1
SLC38A8 0 1 0 0 1
SLC4A1 0 0 1 0 1
SLCO2A1 1 0 0 0 1
TBX6 1 0 0 0 1
TECTA 0 0 1 0 1
THBD 0 0 1 0 1
THRB 0 1 0 0 1
TOPORS 0 0 1 0 1
TP53 1 0 0 0 1
TP63 1 0 0 0 1
TTC21B 0 0 1 0 1
VPS13C 0 0 1 0 1
VPS33B 0 1 0 0 1
WNT10B 0 1 0 0 1
WWOX 0 1 0 0 1
ZFP57 0 0 1 0 1

Condition and significance breakdown #

Total conditions: 209
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Condition pathogenic likely pathogenic uncertain significance likely benign total
Alport syndrome 3, autosomal dominant 11 22 31 0 64
Polycystic kidney disease, adult type 25 13 21 0 59
Alport syndrome 1, X-linked recessive 17 19 10 0 46
Megaloblastic anemia due to inborn errors of metabolism 2 7 5 0 14
Alport syndrome, autosomal recessive 2 6 3 0 11
Familial cancer of breast 5 2 1 0 8
Cone-rod dystrophy 3 5 2 0 0 7
Focal segmental glomerulosclerosis 5 5 0 2 0 7
Polycystic kidney disease 2 6 1 0 0 7
Autosomal recessive polycystic kidney disease 1 5 0 0 6
Bestrophinopathy, autosomal recessive 3 3 0 0 6
Diffuse mesangial sclerosis 2 1 3 0 6
Finnish congenital nephrotic syndrome 1 2 2 0 5
Focal segmental glomerulosclerosis 2 0 1 4 0 5
Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss 1 0 4 0 5
Nephrotic syndrome, idiopathic, steroid-resistant 3 2 0 0 5
Osteogenesis imperfecta type I 4 1 0 0 5
Usher syndrome, type 2A 3 1 1 0 5
Atypical hemolytic-uremic syndrome 1 2 2 0 0 4
Atypical hemolytic-uremic syndrome 2 2 2 0 0 4
Autosomal recessive hypophosphatemic bone disease 1 1 2 0 4
Focal segmental glomerulosclerosis 1 0 2 2 0 4
Nail-patella syndrome 3 1 0 0 4
Nephrotic syndrome, type 7 2 2 0 0 4
Retinitis pigmentosa 39 2 2 0 0 4
Usher syndrome, type 2C 2 0 2 0 4
Atypical hemolytic-uremic syndrome 3 0 1 2 0 3
Atypical hemolytic-uremic syndrome 4 0 0 3 0 3
Deafness, autosomal recessive 3 2 0 1 0 3
Familial renal glucosuria 1 2 0 0 3
Focal segmental glomerulosclerosis 9 0 0 3 0 3
Glycogen storage disease type III 1 2 0 0 3
Glycogen storage disease, type II 2 0 1 0 3
Hypercalcemia, infantile, 2 1 2 0 0 3
Maple syrup urine disease 0 3 0 0 3
Maturity-onset diabetes of the young, type 2 0 1 2 0 3
Neurofibromatosis, type 1 2 1 0 0 3
Primary hyperoxaluria, type III 1 1 1 0 3
Retinitis pigmentosa 11 2 0 1 0 3
Retinitis pigmentosa 25 2 0 1 0 3
Schimke immunoosseous dysplasia 2 1 0 0 3
Usher syndrome, type 1 1 2 0 0 3
Alagille syndrome 1 1 0 1 0 2
Aniridia 1 1 0 1 0 2
Anonychia 2 0 0 0 2
Arthrogryposis, renal dysfunction, and cholestasis 2 1 1 0 0 2
Atypical hemolytic-uremic syndrome 5 0 1 1 0 2
Bartter syndrome, type 1, antenatal 1 1 0 0 2
Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy 0 0 2 0 2
Chondroectodermal dysplasia 1 1 0 0 2
Cone-rod dystrophy 19 1 1 0 0 2
Congenital stationary night blindness, type 1C 0 1 1 0 2
Deafness, autosomal recessive 18 1 1 0 0 2
Deficiency of steroid 11-beta-monooxygenase 0 0 2 0 2
FRASER SYNDROME 2 2 0 0 0 2
Fabry disease 0 1 1 0 2
Familial hypercholesterolemia 1 1 0 0 2
Familial hypokalemia-hypomagnesemia 1 1 0 0 2
Focal segmental glomerulosclerosis 3, susceptibility to 1 0 1 0 2
Focal segmental glomerulosclerosis 8 0 0 2 0 2
Hereditary fructosuria 2 0 0 0 2
Hypochondroplasia 2 0 0 0 2
Kallmann syndrome 5 0 1 1 0 2
Long QT syndrome 1 2 0 0 0 2
Macular dystrophy, vitelliform, adult-onset 1 1 0 0 2
Maturity-onset diabetes of the young, type 3 1 1 0 0 2
Nephrotic syndrome, type 12 1 1 0 0 2
Nephrotic syndrome, type 3 0 0 2 0 2
Pachydermoperiostosis syndrome 1 1 0 0 2
Pyridoxal 5'-phosphate-dependent epilepsy 1 0 1 0 2
Retinitis pigmentosa 26 2 0 0 0 2
Retinitis pigmentosa 56 2 0 0 0 2
Rubinstein-Taybi syndrome 1 0 1 1 0 2
Short stature, idiopathic, X-linked 0 0 1 1 2
Thrombophilia, hereditary, due to protein C deficiency, autosomal dominant 2 0 0 0 2
Tuberous sclerosis 2 0 1 1 0 2
Upshaw-Schulman syndrome 0 2 0 0 2
Usher syndrome, type 1D 2 0 0 0 2
22q13.3 deletion syndrome 0 0 1 0 1
3-methylcrotonyl CoA carboxylase 2 deficiency 0 0 1 0 1
Achondrogenesis, type II 0 1 0 0 1
Achondroplasia 1 0 0 0 1
Adult junctional epidermolysis bullosa 1 0 0 0 1
Apparent mineralocorticoid excess 0 0 1 0 1
Arrhythmogenic right ventricular cardiomyopathy, type 8 0 0 1 0 1
Arthrogryposis renal dysfunction cholestasis syndrome 0 1 0 0 1
Atypical hemolytic-uremic syndrome 6 0 0 1 0 1
Bardet-Biedl syndrome 1 0 1 0 0 1
Bardet-Biedl syndrome 4 1 0 0 0 1
Bardet-Biedl syndrome 6 1 0 0 0 1
Bardet-Biedl syndrome 9 0 1 0 0 1
Bartter syndrome type 3 1 0 0 0 1
Beckwith-Wiedemann syndrome 0 0 1 0 1
Blepharophimosis, ptosis, and epicanthus inversus 1 0 0 0 1
Brugada syndrome 1 0 0 1 0 1
Brugada syndrome 9 0 0 1 0 1
Bullous ichthyosiform erythroderma 1 0 0 0 1
Choroideremia 0 0 1 0 1
Ciliary dyskinesia, primary, 3 0 1 0 0 1
Citrullinemia type I 0 1 0 0 1
Cleidocranial dysostosis 1 0 0 0 1
Coenzyme Q10 deficiency, primary 1 0 1 0 0 1
Complement component 3 deficiency, autosomal recessive 1 0 0 0 1
Cone dystrophy 4 0 1 0 0 1
Cone-rod dystrophy 11 0 0 1 0 1
Cone-rod dystrophy 21 0 1 0 0 1
Cone-rod dystrophy X-linked 3 0 1 0 0 1
Congenital disorder of glycosylation type 1N 0 1 0 0 1
Congenital stationary night blindness, type 1E 1 0 0 0 1
Crouzon syndrome 1 0 0 0 1
Culler-Jones syndrome 1 0 0 0 1
Deafness, autosomal dominant 1 0 0 1 0 1
Deafness, autosomal dominant 12 0 0 1 0 1
Deafness, autosomal recessive 25 1 0 0 0 1
Deafness, autosomal recessive 29 0 1 0 0 1
Dent disease 1 0 0 1 0 1
Diabetes mellitus type 2 0 0 1 0 1
Dilated cardiomyopathy 1CC 0 1 0 0 1
Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3 1 0 0 0 1
Ehlers-Danlos syndrome, classic type 0 0 1 0 1
Epidermolysis bullosa simplex, Koebner type 0 1 0 0 1
Epileptic encephalopathy, early infantile, 28 0 1 0 0 1
Familial X-linked hypophosphatemic vitamin D refractory rickets 1 0 0 0 1
Familial hypertrophic cardiomyopathy 4 1 0 0 0 1
Familial hypoplastic, glomerulocystic kidney 1 0 0 0 1
Familial partial lipodystrophy 3 0 1 0 0 1
Fanconi-Bickel syndrome 1 0 0 0 1
Focal segmental glomerulosclerosis 7 0 0 1 0 1
Foveal hypoplasia 2 0 1 0 0 1
GALLOWAY-MOWAT SYNDROME 3 0 0 1 0 1
Generalized dominant dystrophic epidermolysis bullosa 1 0 0 0 1
Glucose-6-phosphate transport defect 0 1 0 0 1
Glutaric aciduria, type 1 1 0 0 0 1
Glutaric aciduria, type 2 0 1 0 0 1
Glycogen storage disease type IXa1 0 1 0 0 1
Homocystinuria due to CBS deficiency 1 0 0 0 1
Hyperuricemic nephropathy, familial juvenile, 2 0 1 0 0 1
Hypocalciuric hypercalcemia, familial, type 1 0 0 1 0 1
Hypohidrotic X-linked ectodermal dysplasia 1 0 0 0 1
Joubert syndrome 5 1 0 0 0 1
Joubert syndrome 7 1 0 0 0 1
Kabuki syndrome 1 0 0 1 0 1
Kallmann syndrome 1 0 0 1 0 1
Kniest dysplasia 0 0 1 0 1
Laron-type isolated somatotropin defect 0 1 0 0 1
Leber congenital amaurosis 1 0 1 0 0 1
Leber congenital amaurosis 7 0 1 0 0 1
Leber congenital amaurosis 8 0 1 0 0 1
Li-Fraumeni syndrome 1 1 0 0 0 1
Lynch syndrome II 0 1 0 0 1
Macular dystrophy, vitelliform, 5 0 1 0 0 1
Maturity-onset diabetes of the young, type 1 0 1 0 0 1
Maturity-onset diabetes of the young, type 9 0 0 1 0 1
Melnick-Fraser syndrome 1 0 0 0 1
Mental retardation, X-linked, syndromic, Turner type 1 0 0 0 1
Methylmalonic acidemia with homocystinuria 1 0 0 0 1
Methylmalonic aciduria cblB type 0 1 0 0 1
Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation 1 0 0 0 1
Mitochondrial trifunctional protein deficiency 0 0 1 0 1
Nephrogenic diabetes insipidus, X-linked 1 0 0 0 1
Nephronophthisis 4 1 0 0 0 1
Nephrotic syndrome type 14 0 1 0 0 1
Nephrotic syndrome, type 5, with or without ocular abnormalities 1 0 0 0 1
Nephrotic syndrome, type 9 1 0 0 0 1
Neurohypophyseal diabetes insipidus 0 1 0 0 1
Ornithine aminotransferase deficiency 1 0 0 0 1
Osteogenesis imperfecta type 5 0 1 0 0 1
Osteogenesis imperfecta type 8 1 0 0 0 1
Osteogenesis imperfecta, recessive perinatal lethal 1 0 0 0 1
Osteogenesis imperfecta, type VI 1 0 0 0 1
Osteogenesis imperfecta, type XI 1 0 0 0 1
Osteopetrosis autosomal dominant type 2 1 0 0 0 1
Osteopetrosis with renal tubular acidosis 1 0 0 0 1
Pancreatic lipase deficiency 0 1 0 0 1
Parkinson disease 23, autosomal recessive early-onset 0 0 1 0 1
Parkinson disease 8, autosomal dominant 1 0 0 0 1
Periventricular nodular heterotopia 1 1 0 0 0 1
Persistent hyperinsulinemic hypoglycemia of infancy 0 1 0 0 1
Polyarteritis nodosa, childhoood-onset 0 1 0 0 1
Polycystic liver disease 2 1 0 0 0 1
Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract 0 1 0 0 1
Porphobilinogen synthase deficiency 0 0 1 0 1
Primary hypertrophic osteoarthropathy, autosomal recessive 2 1 0 0 0 1
Primary hypomagnesemia 1 0 0 0 1
Proximal symphalangism 0 1 0 0 1
Pseudohypoaldosteronism type 1 autosomal dominant 0 1 0 0 1
Renal carnitine transport defect 0 1 0 0 1
Renal tubular acidosis, distal, autosomal dominant 0 0 1 0 1
Retinitis pigmentosa 1 1 0 0 0 1
Retinitis pigmentosa 15 1 0 0 0 1
Retinitis pigmentosa 31 0 0 1 0 1
Retinitis pigmentosa 38 1 0 0 0 1
Retinitis pigmentosa 40 1 0 0 0 1
Retinitis pigmentosa 45 0 1 0 0 1
Rett syndrome 1 0 0 0 1
Sandhoff disease 1 0 0 0 1
Split-hand/foot malformation 6 0 1 0 0 1
Spondylocostal dysostosis 5 1 0 0 0 1
Spondyloepimetaphyseal dysplasia with joint laxity 1 0 0 0 1
Thyroid hormone resistance, generalized, autosomal dominant 0 1 0 0 1
Transient neonatal diabetes mellitus 1 0 0 1 0 1
Type C brachydactyly 0 1 0 0 1
Ulnar/fibular ray defect and brachydactyly 0 1 0 0 1
Usher syndrome, type 3A 0 0 1 0 1
Very long chain acyl-CoA dehydrogenase deficiency 1 0 0 0 1
Vici syndrome 0 0 1 0 1
Waardenburg syndrome type 2E 1 0 0 0 1
Wolcott-Rallison dysplasia 0 0 1 0 1
beta Thalassemia 0 0 1 0 1

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