ClinVar Miner

Variants from Pars Genome Lab

Location: Iran, Islamic Republic of  Primary collection method: clinical testing
Minimum submission review status: Collection method:
Minimum conflict level:
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
39 5 67 94 350 554

Gene and significance breakdown #

Total genes and gene combinations: 173
Download table as spreadsheet
Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
DNAH5 0 0 1 4 62 67
PKHD1 0 0 3 7 46 56
EVC 0 0 0 1 28 29
ABCC8 0 0 1 1 14 16
PFKM 0 0 0 1 14 15
PAH 0 1 0 0 13 14
GLB1 0 0 0 3 10 13
MCCC2 0 0 0 1 11 12
MCCC1 0 0 0 1 9 10
MTRR 0 0 0 0 10 10
MMUT 0 0 0 0 9 9
PCCA 0 0 0 1 8 9
SLC22A5 0 0 1 1 7 9
BBS12 0 0 1 0 7 8
GJB2 0 1 0 3 5 8
PDHB 0 0 0 0 7 7
ARSA 0 0 0 3 3 6
ARSB 0 0 0 0 6 6
GBE1 0 0 0 2 4 6
MMAB 0 0 0 1 5 6
SGCG 0 0 0 0 6 6
SUMF1 0 0 0 2 4 6
CAPN3 0 0 3 2 0 5
CLRN1 0 0 0 0 5 5
DMD 0 0 2 0 3 5
DYSF 0 0 5 0 0 5
PCDH15 0 0 3 1 1 5
SACS 0 0 1 4 0 5
USH2A 0 0 3 2 0 5
CFTR 1 0 3 0 0 4
EYS 0 0 1 3 0 4
KCNJ11 0 0 0 2 2 4
MMAA 0 0 0 0 4 4
MYO7A 1 0 2 1 0 4
ABCC8, LOC110121471 0 0 0 2 1 3
ALMS1 0 0 0 3 0 3
BLM 0 0 2 1 0 3
GNS 0 0 0 0 3 3
NF1 3 0 0 0 0 3
ATM, C11orf65 0 0 0 2 0 2
C10orf105, CDH23 0 0 1 0 1 2
CACNA1F 0 0 0 2 0 2
CDH23 0 0 1 1 0 2
CEP290 1 0 0 1 0 2
CPT2 1 0 1 0 0 2
CRB1 0 0 0 2 0 2
DCLRE1C 0 0 1 1 0 2
DNAH5, LOC126807318 0 0 0 0 2 2
ETFDH 0 0 0 0 2 2
GAA 0 0 1 1 0 2
GLB1, LOC129936434, TMPPE 0 0 0 0 2 2
LAMB3 1 0 0 0 1 2
NEB 0 0 1 0 1 2
NEB, RIF1 0 0 1 0 1 2
NPHS1 0 0 2 0 0 2
NTRK1 0 0 1 1 0 2
PEX2 0 0 2 0 0 2
RPE65 1 0 0 1 0 2
SGCB 0 0 1 0 1 2
SLC12A6 0 0 0 0 2 2
VPS13B 0 0 1 1 0 2
ABCA4 1 0 0 0 0 1
ABCB6 0 0 0 0 1 1
ABCC8, KCNJ11 0 0 0 0 1 1
ABCD1 1 0 0 0 0 1
ACADVL 0 0 0 1 0 1
ACSF3 0 0 1 0 0 1
ADA 0 1 0 0 0 1
ADAMTS2 0 0 1 0 0 1
AGPS, LOC129935172 0 0 0 0 1 1
ALS2 1 0 0 0 0 1
AOPEP, FANCC 0 0 1 0 0 1
AR 0 0 0 0 1 1
ASH1L 0 0 0 1 0 1
ASS1 0 0 0 1 0 1
ATP6V0A4 1 0 0 0 0 1
ATP6V1B1 0 0 0 0 1 1
BBS10 0 0 0 0 1 1
BBS2 0 0 0 1 0 1
BRCA2 1 0 0 0 0 1
BTD 0 0 0 1 0 1
CACNA1G 0 0 0 0 1 1
CERS3 1 0 0 0 0 1
CFTR, LOC111674472 0 0 1 0 0 1
CFTR, LOC111674477 0 0 0 0 1 1
CHKB, CHKB-CPT1B 1 0 0 0 0 1
CNGA3 1 0 0 0 0 1
COL4A3, MFF-DT 0 0 0 1 0 1
COL6A1 1 0 0 0 0 1
CPT1A 0 0 0 1 0 1
CYP27A1 0 0 0 0 1 1
DDX3X 0 0 0 0 1 1
DHCR7 0 0 0 1 0 1
DNAH5, LOC107457585 0 0 0 0 1 1
DNAI2 0 0 0 1 0 1
ECM1 1 0 0 0 0 1
EIF2B5 0 0 0 0 1 1
EMD 0 0 0 1 0 1
EPS8 1 0 0 0 0 1
EYS, PHF3 0 0 1 0 0 1
FAM83H 0 0 0 1 0 1
FANCA 0 0 0 0 1 1
FBN1 1 0 0 0 0 1
FOXG1 1 0 0 0 0 1
G6PC1 1 0 0 0 0 1
GALT 0 1 0 0 0 1
GATAD1, PEX1 0 0 0 1 0 1
GCDH, LOC126862860, SYCE2 0 0 0 1 0 1
GCK 0 0 0 1 0 1
GFM1 0 0 0 0 1 1
GFPT1 1 0 0 0 0 1
GH-LCR, SCN4A 0 0 0 1 0 1
GUCY2D 1 0 0 0 0 1
HADHA 0 0 1 0 0 1
HLCS 0 0 0 1 0 1
HOGA1 0 0 0 0 1 1
HOXD13 1 0 0 0 0 1
HSD3B2 0 0 1 0 0 1
IDUA 0 0 0 0 1 1
LAMA2 1 0 0 0 0 1
LAMA3 1 0 0 0 0 1
LDLR 0 0 0 1 0 1
LOC107548112, REN 0 0 0 1 0 1
LOC111811965, MIR4733HG, NF1 1 0 0 0 0 1
LOC126807323, TRIO 0 0 0 0 1 1
LOC126859690, PKHD1 0 0 0 0 1 1
LOC129936056, SUMF1 0 0 0 0 1 1
LOC129938008, MCCC1 0 0 0 0 1 1
LOC129993631, MTRR 0 0 0 0 1 1
LOXHD1 0 0 0 0 1 1
MAFA 0 0 0 0 1 1
MCOLN1 0 0 0 1 0 1
MFSD8 0 0 1 0 0 1
MKS1 0 0 1 0 0 1
MMACHC 0 0 1 0 0 1
MPEG1 0 0 0 1 0 1
MPI 0 0 1 0 0 1
MTHFR 0 0 0 1 0 1
MTTP 0 0 1 0 0 1
MYOC 0 0 0 1 0 1
NPC1 0 0 1 0 0 1
NPR2 0 1 0 0 0 1
OFD1, TRAPPC2 0 0 0 0 1 1
OTC 0 0 1 0 0 1
PITX1 0 0 0 0 1 1
PKD1 1 0 0 0 0 1
POC1A 1 0 0 0 0 1
POMGNT1 0 0 0 1 0 1
POMGNT1, TSPAN1 0 0 1 0 0 1
PYGM 0 0 0 1 0 1
RAG1 1 0 0 0 0 1
RARS2 0 0 1 0 0 1
RET 1 0 0 0 0 1
SCN1A, SCN9A 1 0 0 0 0 1
SGCA 0 0 1 0 0 1
SLC12A1 1 0 0 0 0 1
SLC25A13 0 0 1 0 0 1
SLC26A4 0 0 0 1 0 1
SLC39A4 0 0 0 0 1 1
SLC7A7 0 0 0 1 0 1
STAR 0 0 0 0 1 1
TBC1D23 1 0 0 0 0 1
TCIRG1 0 0 0 0 1 1
TENM4 0 0 0 0 1 1
TGM6 0 0 0 1 0 1
TH 0 0 1 0 0 1
TNNI2 1 0 0 0 0 1
TPP1 0 0 1 0 0 1
TRIOBP 1 0 0 0 0 1
TYMP 0 0 1 0 0 1
USH1C 0 0 0 1 0 1
WDR26 0 0 0 0 1 1
WFS1 1 0 0 0 0 1

Condition and significance breakdown #

Total conditions: 169
Download table as spreadsheet
Condition pathogenic likely pathogenic uncertain significance likely benign benign total
Primary ciliary dyskinesia 3 0 0 1 4 65 70
Polycystic kidney disease 4 0 0 3 7 47 57
Ellis-van Creveld syndrome 0 0 0 1 28 29
Diabetes mellitus, permanent neonatal 3 0 0 1 3 16 20
Diabetes mellitus, transient neonatal, 2 0 0 0 3 16 19
Hyperinsulinemic hypoglycemia, familial, 1 0 0 0 3 16 19
Leucine-induced hypoglycemia 0 0 0 3 16 19
Glycogen storage disease, type VII 0 0 0 1 14 15
Infantile GM1 gangliosidosis 0 0 0 3 12 15
Mucopolysaccharidosis, MPS-IV-B 0 0 0 3 12 15
Phenylketonuria 0 1 0 0 13 14
3-methylcrotonyl-CoA carboxylase 2 deficiency 0 0 0 1 11 12
3-methylcrotonyl-CoA carboxylase 1 deficiency 0 0 0 1 10 11
Methylcobalamin deficiency type cblE 0 0 0 0 11 11
Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency 0 0 0 0 9 9
Propionic acidemia 0 0 0 1 8 9
Renal carnitine transport defect 0 0 1 1 7 9
Bardet-Biedl syndrome 12 0 0 1 0 7 8
Autosomal recessive nonsyndromic hearing loss 1A 0 1 0 2 4 7
Multiple sulfatase deficiency 0 0 0 2 5 7
Pyruvate dehydrogenase E1-beta deficiency 0 0 0 0 7 7
Autosomal dominant nonsyndromic hearing loss 3A 0 0 0 1 5 6
Autosomal recessive limb-girdle muscular dystrophy type 2C 0 0 0 0 6 6
Cystic fibrosis 1 0 4 0 1 6
Glycogen storage disease, type IV 0 0 0 2 4 6
Metachromatic leukodystrophy 0 0 0 3 3 6
Methylmalonic aciduria, cblB type 0 0 0 1 5 6
Mucopolysaccharidosis type 6 0 0 0 0 6 6
Adult polyglucosan body disease 0 0 0 1 4 5
Charlevoix-Saguenay spastic ataxia 0 0 1 4 0 5
Duchenne muscular dystrophy 0 0 2 0 3 5
Miyoshi muscular dystrophy 1 0 0 5 0 0 5
Retinitis pigmentosa 25 0 0 2 3 0 5
Usher syndrome type 1F 0 0 3 1 1 5
Usher syndrome type 2A 0 0 3 2 0 5
Usher syndrome type 3A 0 0 0 0 5 5
Autosomal recessive limb-girdle muscular dystrophy type 2A 0 0 2 2 0 4
Hyperinsulinemic hypoglycemia, familial, 2 0 0 0 2 2 4
Methylmalonic aciduria, cblA type 0 0 0 0 4 4
Nemaline myopathy 2 0 0 2 0 2 4
Neurofibromatosis, type 1 4 0 0 0 0 4
Usher syndrome type 1 1 0 2 1 0 4
Usher syndrome type 1D 0 0 2 1 1 4
Alstrom syndrome 0 0 0 3 0 3
Bloom syndrome 0 0 2 1 0 3
Diabetes mellitus, permanent neonatal 2 0 0 0 1 2 3
Diabetes mellitus, transient neonatal, 3 0 0 0 1 2 3
Mucopolysaccharidosis, MPS-III-D 0 0 0 0 3 3
Agenesis of the corpus callosum with peripheral neuropathy 0 0 0 0 2 2
Ataxia-telangiectasia syndrome 0 0 0 2 0 2
Autosomal recessive limb-girdle muscular dystrophy type 2E 0 0 1 0 1 2
Carnitine palmitoyl transferase II deficiency, severe infantile form 1 0 1 0 0 2
Cohen syndrome 0 0 1 1 0 2
Finnish congenital nephrotic syndrome 0 0 2 0 0 2
Glycogen storage disease, type II 0 0 1 1 0 2
Hereditary insensitivity to pain with anhidrosis 0 0 1 1 0 2
Joubert syndrome 5 1 0 0 1 0 2
Leber congenital amaurosis 8 0 0 0 2 0 2
Multiple acyl-CoA dehydrogenase deficiency 0 0 0 0 2 2
Peroxisome biogenesis disorder 5A (Zellweger) 0 0 2 0 0 2
Severe combined immunodeficiency due to DCLRE1C deficiency 0 0 1 1 0 2
X-linked cone-rod dystrophy 3 0 0 0 2 0 2
3 beta-Hydroxysteroid dehydrogenase deficiency 0 0 1 0 0 1
Abetalipoproteinaemia 0 0 1 0 0 1
Achromatopsia 2 1 0 0 0 0 1
Adrenoleukodystrophy 1 0 0 0 0 1
Amelogenesis imperfecta, hypocalcification type 0 0 0 1 0 1
Androgen resistance syndrome; Partial androgen insensitivity syndrome 0 0 0 0 1 1
Autosomal recessive Alport syndrome 0 0 0 1 0 1
Autosomal recessive DOPA responsive dystonia 0 0 1 0 0 1
Autosomal recessive congenital ichthyosis 9 1 0 0 0 0 1
Autosomal recessive distal renal tubular acidosis 1 0 0 0 0 1
Autosomal recessive limb-girdle muscular dystrophy type 2D 0 0 1 0 0 1
Autosomal recessive limb-girdle muscular dystrophy type 2O 0 0 0 1 0 1
Autosomal recessive nonsyndromic hearing loss 102 1 0 0 0 0 1
Autosomal recessive nonsyndromic hearing loss 28 1 0 0 0 0 1
Autosomal recessive nonsyndromic hearing loss 77 0 0 0 0 1 1
Autosomal recessive osteopetrosis 1 0 0 0 0 1 1
Bardet-Biedl syndrome 10 0 0 0 0 1 1
Bardet-Biedl syndrome 13 0 0 1 0 0 1
Bardet-Biedl syndrome 2 0 0 0 1 0 1
Bartter disease type 1 1 0 0 0 0 1
Bethlem myopathy 1A 1 0 0 0 0 1
Biotinidase deficiency 0 0 0 1 0 1
Brachydactyly-elbow wrist dysplasia syndrome; Clubfoot 0 0 0 0 1 1
Breast-ovarian cancer, familial, susceptibility to, 2 1 0 0 0 0 1
Carnitine palmitoyl transferase 1A deficiency 0 0 0 1 0 1
Channelopathy-associated congenital insensitivity to pain, autosomal recessive 1 0 0 0 0 1
Cholestanol storage disease 0 0 0 0 1 1
Citrullinemia type I 0 0 0 1 0 1
Citrullinemia, type II, adult-onset 0 0 1 0 0 1
Cobalamin C disease 0 0 1 0 0 1
Combined malonic and methylmalonic acidemia 0 0 1 0 0 1
Congenital blindness 1 0 0 0 0 1
Congenital lipoid adrenal hyperplasia due to STAR deficency 0 0 0 0 1 1
Congenital myasthenic syndrome 12 1 0 0 0 0 1
Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase 0 1 0 0 0 1
Distal arthrogryposis type 2B1 1 0 0 0 0 1
Ehlers-Danlos syndrome, dermatosparaxis type 0 0 1 0 0 1
Familial juvenile hyperuricemic nephropathy type 2 0 0 0 1 0 1
Familial medullary thyroid carcinoma 1 0 0 0 0 1
Familial pseudohyperkalemia; Microphthalmia, isolated, with coloboma 7; Dyschromatosis universalis hereditaria 3 0 0 0 0 1 1
Fanconi anemia complementation group A 0 0 0 0 1 1
Fanconi anemia complementation group C 0 0 1 0 0 1
Geleophysic dysplasia 2 1 0 0 0 0 1
Glaucoma 1, open angle, A 0 0 0 1 0 1
Glutaric aciduria, type 1 0 0 0 1 0 1
Glycogen storage disease due to glucose-6-phosphatase deficiency type IA 1 0 0 0 0 1
Glycogen storage disease, type V 0 0 0 1 0 1
Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 0 0 0 0 1 1
Hereditary acrodermatitis enteropathica 0 0 0 0 1 1
Holocarboxylase synthetase deficiency 0 0 0 1 0 1
Homocystinuria due to methylene tetrahydrofolate reductase deficiency 0 0 0 1 0 1
Hurler syndrome 0 0 0 0 1 1
Hypercholesterolemia, familial, 1 0 0 0 1 0 1
Hyperinsulinism due to glucokinase deficiency 0 0 0 1 0 1
Hypokalemic periodic paralysis, type 2 0 0 0 1 0 1
Immunodeficiency 77 0 0 0 1 0 1
Infantile-onset ascending hereditary spastic paralysis 1 0 0 0 0 1
Intellectual disability, X-linked 102 0 0 0 0 1 1
Intellectual disability, autosomal dominant 52 0 0 0 1 0 1
Islet cell adenomatosis 0 0 0 0 1 1
Junctional epidermolysis bullosa gravis of Herlitz 0 0 0 0 1 1
Junctional epidermolysis bullosa, non-Herlitz type 1 0 0 0 0 1
Laryngo-onycho-cutaneous syndrome 1 0 0 0 0 1
Leber congenital amaurosis 2 0 0 0 1 0 1
Lipid proteinosis 1 0 0 0 0 1
Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency 0 0 1 0 0 1
Lysinuric protein intolerance 0 0 0 1 0 1
MPI-congenital disorder of glycosylation 0 0 1 0 0 1
Megaconial type congenital muscular dystrophy 1 0 0 0 0 1
Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome 0 0 0 0 1 1
Mitochondrial DNA depletion syndrome 1 0 0 1 0 0 1
Mucolipidosis type IV 0 0 0 1 0 1
Muscular dystrophy, limb-girdle, autosomal dominant 4 0 0 1 0 0 1
Muscular dystrophy, limb-girdle, autosomal recessive 23 1 0 0 0 0 1
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3 0 0 1 0 0 1
Neuronal ceroid lipofuscinosis 2 0 0 1 0 0 1
Neuronal ceroid lipofuscinosis 7 0 0 1 0 0 1
Niemann-Pick disease, type C1 0 0 1 0 0 1
Ornithine carbamoyltransferase deficiency 0 0 1 0 0 1
Pendred syndrome 0 0 0 1 0 1
Peroxisome biogenesis disorder 1A (Zellweger) 0 0 0 1 0 1
Polycystic kidney disease, adult type 1 0 0 0 0 1
Pontocerebellar hypoplasia type 6 0 0 1 0 0 1
Pontocerebellar hypoplasia, type 11 1 0 0 0 0 1
Primary ciliary dyskinesia 9 0 0 0 1 0 1
Primary hyperoxaluria type 3 0 0 0 0 1 1
Renal tubular acidosis with progressive nerve deafness 0 0 0 0 1 1
Retinitis pigmentosa 20 1 0 0 0 0 1
Rett syndrome, congenital variant 1 0 0 0 0 1
Rhizomelic chondrodysplasia punctata type 3 0 0 0 0 1 1
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency 0 1 0 0 0 1
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive 1 0 0 0 0 1
Severe early-childhood-onset retinal dystrophy 1 0 0 0 0 1
Short stature 0 1 0 0 0 1
Short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome 1 0 0 0 0 1
Skraban-Deardorff syndrome 0 0 0 0 1 1
Smith-Lemli-Opitz syndrome 0 0 0 1 0 1
Spinocerebellar ataxia 42, early-onset, severe, with neurodevelopmental deficits 0 0 0 0 1 1
Spinocerebellar ataxia type 35 0 0 0 1 0 1
Spondyloepiphyseal dysplasia tarda, X-linked 0 0 0 0 1 1
Synpolydactyly 1 0 0 0 0 1
Tremor, hereditary essential, 5 0 0 0 0 1 1
Usher syndrome type 1C 0 0 0 1 0 1
Vanishing white matter disease 0 0 0 0 1 1
Very long chain acyl-CoA dehydrogenase deficiency 0 0 0 1 0 1
Wolfram syndrome 1 1 0 0 0 0 1
X-linked Emery-Dreifuss muscular dystrophy 0 0 0 1 0 1

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.