ClinVar Miner

Variants from Molecular Diagnostics Laboratory,M Health: University of Minnesota

Location: United States — 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
105 160 0 0 0 265

Gene and significance breakdown #

Total genes and gene combinations: 174
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Gene or gene combination pathogenic likely pathogenic total
ABCD1 4 9 13
FANCA 6 7 13
COL4A5 3 2 5
COL7A1 2 3 5
PKD1 1 4 5
CDH23 4 0 4
FANCG 4 0 4
RPGR 3 1 4
SDCCAG8 2 2 4
COL11A1 1 2 3
COL4A3, LOC654841 0 3 3
PAH 1 2 3
PTEN 0 3 3
RYR1 1 2 3
STRC 1 2 3
TMC1 2 1 3
TYR 3 0 3
ABCA4 0 2 2
ALPL 1 1 2
ARSB 1 1 2
ATL1 1 1 2
BEST1 0 2 2
CENPF 0 2 2
COL17A1 1 1 2
EYS 2 0 2
FBN1 1 1 2
FECH 1 1 2
FLNA 1 1 2
GALNS 1 1 2
GCK 1 1 2
ITGB3 0 2 2
LEMD3 1 1 2
MYO7A 2 0 2
NBAS 0 2 2
NFKB1 0 2 2
NOTCH3 1 1 2
PHEX, PTCHD1 0 2 2
PROC 0 2 2
PROM1 0 2 2
SPAST 1 1 2
TSC2 1 1 2
USH2A 1 1 2
WFS1 1 1 2
WT1 1 1 2
ABCC6 1 0 1
ABCC8 0 1 1
ACADM 0 1 1
ACADS 0 1 1
ACADVL 0 1 1
ACVRL1 1 0 1
ADGRV1 0 1 1
ANOS1 1 0 1
APC 0 1 1
ARID1B 1 0 1
ASS1 0 1 1
ATP6V0A4 0 1 1
ATP7B 0 1 1
AUH 1 0 1
BBS1, ZDHHC24 0 1 1
BBS7 1 0 1
BCOR 0 1 1
BRCA2 1 0 1
CAPN3 1 0 1
CASD1, SGCE 0 1 1
CD40LG 0 1 1
CDH23, LOC111982869 0 1 1
CEP152 0 1 1
CEP290 1 0 1
CLCN1 0 1 1
CLCN7 1 0 1
CNGB3 1 0 1
COL11A2 0 1 1
COL18A1, SLC19A1 1 0 1
COL2A1 1 0 1
COL4A2 0 1 1
COL5A1 1 0 1
COL6A1 0 1 1
COL6A3 1 0 1
COMP 0 1 1
CTNS 1 0 1
CYBB 0 1 1
DOCK6 0 1 1
ECEL1 1 0 1
EDA 0 1 1
ESPN 0 1 1
EXT2 0 1 1
EYA4, TARID 0 1 1
FAM161A 0 1 1
FANCA, LOC112486223 0 1 1
FANCD2 0 1 1
FANCD2, LOC107303338 0 1 1
FBP1 1 0 1
FLCN 0 1 1
FOXC2 0 1 1
FRAS1 0 1 1
GATA2 0 1 1
GBA, LOC106627981 0 1 1
GCDH, SYCE2 1 0 1
GLB1 1 0 1
GLB1, TMPPE 1 0 1
GLUD1 1 0 1
GNAS 0 1 1
GPHN, RDH12 0 1 1
GPR143 1 0 1
GPR179 0 1 1
HDAC8 0 1 1
IDUA 0 1 1
INPP4A 0 1 1
IQSEC2 0 1 1
ITGA6 1 0 1
ITGB2 0 1 1
JAG1 0 1 1
JMJD8, STUB1 1 0 1
KMT2D 1 0 1
KRT5 0 1 1
LAMA2 0 1 1
LAMB2 0 1 1
LAMC2 0 1 1
LARS2 0 1 1
LIPA 1 0 1
LOC100507346, PTCH1 1 0 1
LRP5 1 0 1
LZTR1 0 1 1
MEN1 1 0 1
MFN2 0 1 1
MTM1 1 0 1
NAGS 0 1 1
NEB, RIF1 1 0 1
NF1 0 1 1
NFIX 0 1 1
NR3C2 0 1 1
NSD1 0 1 1
OCA2 0 1 1
OTC 0 1 1
OTOA 0 1 1
OTOG 0 1 1
PAX2 0 1 1
PCNT 0 1 1
PEX1 1 0 1
PHF6 0 1 1
PKHD1 0 1 1
PNPLA2 1 0 1
POLR3B 1 0 1
PPOX 0 1 1
PRPF8 0 1 1
PRPH2 0 1 1
PURA 0 1 1
PYGM 0 1 1
RAB28 0 1 1
RNU4ATAC 0 1 1
RP2 1 0 1
RPGRIP1 0 1 1
RPS26 1 0 1
RPS6KA3 1 0 1
SFTPC 1 0 1
SLC12A1 0 1 1
SLC12A3 1 0 1
SLC20A2 0 1 1
SLC22A5 1 0 1
SLC25A15 1 0 1
SLC52A3 0 1 1
SLX4 0 1 1
SPG7 0 1 1
SRD5A2 1 0 1
STAT3 1 0 1
SYNJ1 0 1 1
TBCK 1 0 1
TCHH 0 1 1
TGFB2 1 0 1
TRPM1 0 1 1
TRPS1 1 0 1
VCP 0 1 1
VPS13B 0 1 1
VRK1 0 1 1

Condition and significance breakdown #

Total conditions: 178
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Condition pathogenic likely pathogenic total
Fanconi anemia, complementation group A 6 8 14
Adrenoleukodystrophy 4 9 13
Alport syndrome 1, X-linked recessive 3 2 5
Polycystic kidney disease 3 1 4 5
Recessive dystrophic epidermolysis bullosa 2 3 5
Fanconi anemia, complementation group G 4 0 4
Alport syndrome, autosomal recessive 0 3 3
Deafness, autosomal recessive 16 1 2 3
Myopathy, Central Core 1 2 3
Phenylketonuria 1 2 3
Retinitis pigmentosa 15 3 0 3
Stickler syndrome, type 2 1 2 3
Tyrosinase-negative oculocutaneous albinism 3 0 3
Adult junctional epidermolysis bullosa 1 1 2
Bardet-Biedl syndrome 16 1 1 2
Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy 1 1 2
Cone-rod dystrophy 12 0 2 2
Deafness, autosomal recessive 7 2 0 2
Dermatofibrosis lenticularis disseminata 1 1 2
Diabetes mellitus AND insipidus with optic atrophy AND deafness 1 1 2
Drash syndrome 1 1 2
Erythropoietic protoporphyria 1 1 2
FLNA related lung disease 1 1 2
Familial X-linked hypophosphatemic vitamin D refractory rickets 0 2 2
Fanconi anemia, complementation group D2 0 2 2
Glanzmann thrombasthenia 0 2 2
Immunodeficiency, common variable, 12 0 2 2
Infantile GM1 gangliosidosis 2 0 2
Infantile hypophosphatasia 1 1 2
Marfan syndrome 1 1 2
Maturity-onset diabetes of the young, type 2 1 1 2
Mucopolysaccharidosis type VI 1 1 2
Mucopolysaccharidosis, MPS-IV-A 1 1 2
PTEN-related disorder 0 2 2
Retinitis pigmentosa 25 2 0 2
Senior-Loken syndrome 7 1 1 2
Short stature, optic nerve atrophy, and Pelger-Huet anomaly 0 2 2
Spastic paraplegia 3 1 1 2
Spastic paraplegia 4, autosomal dominant 1 1 2
Stromme syndrome 0 2 2
Thrombophilia, hereditary, due to protein C deficiency, autosomal dominant 0 2 2
Tuberous sclerosis 2 1 1 2
Ullrich congenital muscular dystrophy 1 1 1 2
Usher syndrome, type 1 2 0 2
Usher syndrome, type 1D 2 0 2
Vitelliform macular dystrophy type 2 0 2 2
3-Methylglutaconic aciduria type 1 1 0 1
3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency 1 0 1
Achromatopsia 1 0 1
Adams-Oliver syndrome 1 0 1 1
Arteriohepatic dysplasia 0 1 1
Autosomal recessive polycystic kidney disease 0 1 1
Bardet-Biedl syndrome 1 0 1 1
Bardet-Biedl syndrome 7 1 0 1
Bartter syndrome, type 1, antenatal 0 1 1
Borjeson-Forssman-Lehmann syndrome 0 1 1
Brown-Vialetto-Van Laere syndrome 1 0 1 1
Charcot-Marie-Tooth disease, type 2A2A 0 1 1
Chronic granulomatous disease, X-linked 0 1 1
Citrullinemia type I 0 1 1
Coffin-Lowry syndrome 1 0 1
Coffin-Siris syndrome 1 1 0 1
Cohen syndrome 0 1 1
Cone Rod Dystrophy 0 1 1
Cone-rod dystrophy 18 0 1 1
Cone-rod dystrophy 3 0 1 1
Congenital myotonia, autosomal dominant form 0 1 1
Congenital stationary night blindness, type 1C 0 1 1
Congenital stationary night blindness, type 1E 0 1 1
Cornelia de Lange syndrome 5 0 1 1
Cowden syndrome 0 1 1
Cryptophthalmos syndrome 0 1 1
Deafness, autosomal dominant 10 0 1 1
Deafness, autosomal dominant 13 0 1 1
Deafness, autosomal dominant 36 0 1 1
Deafness, autosomal recessive 12 0 1 1
Deafness, autosomal recessive 12; Usher syndrome, type 2A 1 0 1
Deafness, autosomal recessive 18b 0 1 1
Deafness, autosomal recessive 22 0 1 1
Deafness, autosomal recessive 36, with or without vestibular involvement 0 1 1
Deficiency of butyryl-CoA dehydrogenase 0 1 1
Diamond-Blackfan anemia 10 1 0 1
Distal arthrogryposis type 5D 1 0 1
Distichiasis-lymphedema syndrome 0 1 1
Dyskeratosis congenita autosomal dominant 0 1 1
Dysostosis multiplex 0 1 1
Ehlers-Danlos syndrome, classic type 1 0 1
Epidermolysis bullosa junctionalis with pyloric atresia 1 0 1
Epidermolysis bullosa simplex 0 1 1
Epileptic encephalopathy, early infantile, 1 0 1 1
Exudative vitreoretinopathy 4 1 0 1
Familial hyperinsulinemia 1 0 1
Familial hypokalemia-hypomagnesemia 1 0 1
Familial multiple polyposis syndrome 0 1 1
Fanconi anemia, complementation group D1 1 0 1
Fanconi anemia, complementation group P 0 1 1
Fructose-biphosphatase deficiency 1 0 1
Gaucher's disease, type 1 0 1 1
Glutaric aciduria, type 1 1 0 1
Glycogen storage disease, type V 0 1 1
Gorlin syndrome 1 0 1
Hereditary hemorrhagic telangiectasia type 2 1 0 1
Hereditary renal cancer 0 1 1
Hyperammonemia, type III 0 1 1
Hyperimmunoglobulin E syndrome 1 0 1
Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome 1 0 1
Hypohidrotic X-linked ectodermal dysplasia 0 1 1
Hypomyelinating leukodystrophy 8, with or without oligodontia and/or hypogonadotropic hypogonadism 1 0 1
Hypotonia, infantile, with psychomotor retardation and characteristic facies 3 1 0 1
Idiopathic basal ganglia calcification 1 0 1 1
Immunodeficiency with hyper IgM type 1 0 1 1
Inclusion body myopathy with early-onset paget disease and frontotemporal dementia 0 1 1
Joubert syndrome 5 1 0 1
Junctional epidermolysis bullosa gravis of Herlitz; Adult junctional epidermolysis bullosa 0 1 1
Kabuki syndrome 1 1 0 1
Kallmann syndrome 1 1 0 1
Knobloch syndrome 1 1 0 1
Leber congenital amaurosis 13 0 1 1
Leber congenital amaurosis 6 0 1 1
Leukocyte adhesion deficiency type 1 0 1 1
Limb-girdle muscular dystrophy, type 2A 1 0 1
Loeys-Dietz syndrome 4 1 0 1
Lymphedema, primary, with myelodysplasia 0 1 1
Marshall-Smith syndrome 0 1 1
McCune-Albright syndrome 0 1 1
Medium-chain acyl-coenzyme A dehydrogenase deficiency 0 1 1
Mental retardation, X-linked 1 0 1 1
Mental retardation, autosomal dominant 31 0 1 1
Merosin deficient congenital muscular dystrophy 0 1 1
Microcephalic osteodysplastic primordial dwarfism type 2 0 1 1
Multiple endocrine neoplasia, type 1 1 0 1
Multiple epiphyseal dysplasia 1 0 1 1
Multiple exostoses type 2 0 1 1
Myoclonic dystonia 0 1 1
Nemaline myopathy 2 1 0 1
Nephropathic cystinosis 1 0 1
Nephrotic syndrome, type 5, with or without ocular abnormalities 0 1 1
Neurofibromatosis, type 1 0 1 1
Neutral lipid storage disease with myopathy 1 0 1
Noonan syndrome 10 0 1 1
Nystagmus 6, congenital, X-linked 1 0 1
Oculofaciocardiodental syndrome 0 1 1
Ornithine carbamoyltransferase deficiency 0 1 1
Osteodysplastic primordial dwarfism, type 1 0 1 1
Osteopetrosis autosomal recessive 4 1 0 1
Peroxisome biogenesis disorder 1A (Zellweger) 1 0 1
Perrault syndrome 4 0 1 1
Persistent hyperinsulinemic hypoglycemia of infancy 0 1 1
Pontocerebellar hypoplasia, type 1b 0 1 1
Porencephaly 2 0 1 1
Primary autosomal recessive microcephaly 9 0 1 1
Pseudohypoaldosteronism type 1 autosomal dominant 0 1 1
Pseudoxanthoma elasticum 1 0 1
Renal carnitine transport defect 1 0 1
Renal coloboma syndrome 0 1 1
Renal tubular acidosis, distal, autosomal recessive 0 1 1
Retinitis pigmentosa 0 1 1
Retinitis pigmentosa 13 0 1 1
Retinitis pigmentosa 19 0 1 1
Retinitis pigmentosa 2 1 0 1
Retinitis pigmentosa 28 0 1 1
Retinitis pigmentosa 39 1 0 1
Severe X-linked myotubular myopathy 1 0 1
Sotos syndrome 1 0 1 1
Spastic paraplegia 7 0 1 1
Spinocerebellar ataxia, autosomal recessive 16 1 0 1
Stickler syndrome type 1 1 0 1
Surfactant metabolism dysfunction, pulmonary, 2 1 0 1
Trichorhinophalangeal dysplasia type I 1 0 1
Tyrosinase-positive oculocutaneous albinism 0 1 1
Uncombable hair syndrome 3 0 1 1
Usher syndrome, type 1D; Deafness, autosomal recessive 84 1 0 1
Usher syndrome, type 2A 0 1 1
Usher syndrome, type 2C 0 1 1
Variegate porphyria 0 1 1
Very long chain acyl-CoA dehydrogenase deficiency 0 1 1
Wilson disease 0 1 1
Wolman disease 1 0 1

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