ClinVar Miner

Variants from Intergen, Intergen Genetics and Rare Diseases Diagnosis Center

Location: Turkey  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 established risk allele total
55 34 58 18 5 1 171

Gene and significance breakdown #

Total genes and gene combinations: 156
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign established risk allele total
G6PD 4 0 0 0 0 0 4
TTN 0 0 2 1 0 0 3
ASNS, CZ1P-ASNS 0 0 2 0 0 0 2
BLTP1 0 0 2 0 0 0 2
C6 0 2 0 0 0 0 2
CYP21A2, LOC106780800 2 0 0 0 0 0 2
LAMA2 0 0 2 0 0 0 2
LOC126862264, MEFV 2 0 0 0 0 0 2
MUTYH 2 0 0 0 0 0 2
NPHS1 0 1 1 0 0 0 2
PAH 1 1 0 0 0 0 2
SLC3A1 2 0 0 0 0 0 2
ABCA12 0 0 1 0 0 0 1
ABCA4 1 0 0 0 0 0 1
ABCD1 1 0 0 0 0 0 1
ACADM 0 1 0 0 0 0 1
ACSF3 0 0 0 1 0 0 1
AGBL1 0 0 0 1 0 0 1
ALDH4A1 0 1 0 0 0 0 1
ALDH5A1 0 0 1 0 0 0 1
ALPL 1 0 0 0 0 0 1
APP 0 0 1 0 0 0 1
ARMC9 0 0 0 0 1 0 1
ATP1A3 0 0 0 1 0 0 1
ATP6AP1 0 0 1 0 0 0 1
ATP7B 0 0 1 0 0 0 1
ATRX 0 0 1 0 0 0 1
BCL11B 1 0 0 0 0 0 1
BTD 0 1 0 0 0 0 1
C7 1 0 0 0 0 0 1
CABP2 0 1 0 0 0 0 1
CACNA1A 0 0 1 0 0 0 1
CACNA1S 0 0 1 0 0 0 1
CAPN3 1 0 0 0 0 0 1
CAPN3, LOC130056921 1 0 0 0 0 0 1
CASQ2 0 0 1 0 0 0 1
CBS 0 0 0 1 0 0 1
CC2D2A 0 0 1 0 0 0 1
CD36 0 0 1 0 0 0 1
CDHR1 0 0 1 0 0 0 1
CEL 0 0 1 0 0 0 1
CEP290 0 1 0 0 0 0 1
CFTR 1 0 0 0 0 0 1
CFTR, LOC111674477 0 1 0 0 0 0 1
CHD7 0 1 0 0 0 0 1
CLCNKB, LOC106501713 1 0 0 0 0 0 1
COL11A1 0 0 1 0 0 0 1
COL12A1 0 0 1 0 0 0 1
COL27A1 0 0 1 0 0 0 1
COL6A2 0 0 1 0 0 0 1
CPS1 0 0 0 1 0 0 1
CR2 0 1 0 0 0 0 1
CRLF1, LOC112543470 0 1 0 0 0 0 1
CSF1R 0 0 1 0 0 0 1
CUL7 0 0 1 0 0 0 1
CYP27B1 0 0 1 0 0 0 1
DDX3X 0 1 0 0 0 0 1
DLL1 0 0 0 1 0 0 1
DNAH11 0 0 1 0 0 0 1
DNAH5 0 0 1 0 0 0 1
DYSF 0 0 1 0 0 0 1
EDAR, RANBP2 0 1 0 0 0 0 1
ELANE 1 0 0 0 0 0 1
ELP4, PAX6 0 0 0 1 0 0 1
ETHE1, LOC130064595 1 0 0 0 0 0 1
EVC 1 0 0 0 0 0 1
FBN1 0 0 1 0 0 0 1
FGF14 1 0 0 0 0 0 1
FLNB 0 0 0 1 0 0 1
FOXC1 0 0 1 0 0 0 1
FRRS1L 0 0 0 1 0 0 1
FYCO1 0 0 0 1 0 0 1
GALC 0 1 0 0 0 0 1
GALT 1 0 0 0 0 0 1
GBA2 0 1 0 0 0 0 1
GH-LCR, SCN4A 0 1 0 0 0 0 1
GJB4 0 0 0 1 0 0 1
GLDN 0 1 0 0 0 0 1
GLI1 1 0 0 0 0 0 1
HBB, LOC106099062, LOC107133510 1 0 0 0 0 0 1
HOXC13 0 0 1 0 0 0 1
HSD17B4 0 0 1 0 0 0 1
HSPB1 1 0 0 0 0 0 1
IFIH1 0 0 1 0 0 0 1
IMPDH1 0 0 0 1 0 0 1
ISCU 0 0 1 0 0 0 1
ITPR2 0 0 1 0 0 0 1
KCNJ1 1 0 0 0 0 0 1
KCNN4 0 0 1 0 0 0 1
KCNQ1 1 0 0 0 0 0 1
KIAA0825 0 0 1 0 0 0 1
KIF22 0 0 1 0 0 0 1
KMT2C 0 0 0 0 1 0 1
KRT18, LOC106096416 0 0 1 0 0 0 1
LAGE3 0 0 1 0 0 0 1
LIPA 0 1 0 0 0 0 1
LIPE 0 0 1 0 0 0 1
LOC126806068, RYR2 0 0 1 0 0 0 1
LOC126861615, PAH 1 0 0 0 0 0 1
LOC129992871, PPP3CA 0 0 0 0 1 0 1
LOC130065540, NAPB 0 0 1 0 0 0 1
MAGEL2 1 0 0 0 0 0 1
MAT1A 0 0 1 0 0 0 1
MEFV 1 0 0 0 0 0 1
MPI 1 0 0 0 0 0 1
MRPL44 0 1 0 0 0 0 1
MVK 1 0 0 0 0 0 1
NGLY1 0 1 0 0 0 0 1
NR2E3 1 0 0 0 0 0 1
OCA2 1 0 0 0 0 0 1
OCRL 0 0 0 1 0 0 1
OGDHL 0 1 0 0 0 0 1
PCCB 1 0 0 0 0 0 1
PEX1 1 0 0 0 0 0 1
PEX6 0 0 0 1 0 0 1
PHGDH 0 0 1 0 0 0 1
PHYH 0 0 1 0 0 0 1
PKLR 0 1 0 0 0 0 1
PLEKHG2 1 0 0 0 0 0 1
PMS2 1 0 0 0 0 0 1
POR 0 0 0 1 0 0 1
PPP2R5D 1 0 0 0 0 0 1
PRF1 1 0 0 0 0 0 1
PRKN 1 0 0 0 0 0 1
PRNP 0 1 0 0 0 0 1
PRODH 0 0 0 0 1 0 1
PTPN23 0 0 1 0 0 0 1
RAG2 1 0 0 0 0 0 1
RET 1 0 0 0 0 0 1
RFX5 0 1 0 0 0 0 1
RNPC3 0 1 0 0 0 0 1
RPGR 0 0 1 0 0 0 1
SAMD9 0 1 0 0 0 0 1
SCN3A 1 0 0 0 0 0 1
SGSH 1 0 0 0 0 0 1
SLC26A1 0 0 1 0 0 0 1
SLC34A2 0 1 0 0 0 0 1
SLC34A3 1 0 0 0 0 0 1
SLIT3 0 1 0 0 0 0 1
SPG7 0 1 0 0 0 0 1
SPINK1 0 0 0 0 0 1 1
SPTBN4 1 0 0 0 0 0 1
TAP1 0 0 1 0 0 0 1
TBR1 0 0 1 0 0 0 1
TMEM70 1 0 0 0 0 0 1
TNFRSF11A 0 1 0 0 0 0 1
TRAPPC12 0 0 0 0 1 0 1
TRAPPC2L 0 1 0 0 0 0 1
TRIM71 0 0 0 1 0 0 1
TYR 1 0 0 0 0 0 1
UGT1A, UGT1A1, UGT1A10, UGT1A3, UGT1A4, UGT1A5, UGT1A6, UGT1A7, UGT1A8, UGT1A9 0 0 1 0 0 0 1
UPB1 1 0 0 0 0 0 1
USH2A 0 0 1 0 0 0 1
VARS1 0 0 0 1 0 0 1
VDR 0 0 1 0 0 0 1
ZNF341 0 1 0 0 0 0 1

Condition and significance breakdown #

Total conditions: 154
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Condition pathogenic likely pathogenic uncertain significance likely benign benign established risk allele total
Anemia, nonspherocytic hemolytic, due to G6PD deficiency 4 0 0 0 0 0 4
Familial Mediterranean fever 3 0 0 0 0 0 3
Phenylketonuria 2 1 0 0 0 0 3
Alkuraya-Kucinskas syndrome 0 0 2 0 0 0 2
Autosomal recessive limb-girdle muscular dystrophy type 2A 2 0 0 0 0 0 2
CEP290-related ciliopathy 0 2 0 0 0 0 2
Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency 2 0 0 0 0 0 2
Complement component 6 deficiency 0 2 0 0 0 0 2
Congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome 0 0 2 0 0 0 2
Cystic fibrosis 1 1 0 0 0 0 2
Cystinuria 2 0 0 0 0 0 2
Familial adenomatous polyposis 2 2 0 0 0 0 0 2
Finnish congenital nephrotic syndrome 0 1 1 0 0 0 2
Muscular dystrophy, limb-girdle, autosomal recessive 23 0 0 2 0 0 0 2
Myopathy, myofibrillar, 9, with early respiratory failure 0 0 1 1 0 0 2
3M syndrome 1 0 0 1 0 0 0 1
ABCA4-related retinopathy 1 0 0 0 0 0 1
Adrenoleukodystrophy 1 0 0 0 0 0 1
Alzheimer disease type 1 0 0 1 0 0 0 1
Anhaptoglobinemia 0 0 1 0 0 0 1
Anterior segment dysgenesis 3 0 0 1 0 0 0 1
Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis 0 0 0 1 0 0 1
Autism, susceptibility to, 5 0 0 1 0 0 0 1
Autosomal recessive congenital ichthyosis 4A 0 0 1 0 0 0 1
Autosomal recessive hypophosphatemic bone disease 1 0 0 0 0 0 1
Autosomal recessive juvenile Parkinson disease 2 1 0 0 0 0 0 1
Autosomal recessive limb-girdle muscular dystrophy type 2B 0 0 1 0 0 0 1
Autosomal recessive limb-girdle muscular dystrophy type 2J 0 0 1 0 0 0 1
Autosomal recessive nonsyndromic hearing loss 93 0 1 0 0 0 0 1
Autosomal recessive osteopetrosis 7 0 1 0 0 0 0 1
Bartter disease type 2 1 0 0 0 0 0 1
Bartter disease type 3 1 0 0 0 0 0 1
Beta-thalassemia HBB/LCRB 1 0 0 0 0 0 1
Bethlem myopathy 2 0 0 1 0 0 0 1
Bifunctional peroxisomal enzyme deficiency 0 0 1 0 0 0 1
Biotinidase deficiency 0 1 0 0 0 0 1
Brain abnormalities, neurodegeneration, and dysosteosclerosis 0 0 1 0 0 0 1
CHARGE association 0 1 0 0 0 0 1
Cataract 18 0 0 0 1 0 0 1
Catecholaminergic polymorphic ventricular tachycardia 1 0 0 1 0 0 0 1
Catecholaminergic polymorphic ventricular tachycardia 2 0 0 1 0 0 0 1
Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome 0 0 0 1 0 0 1
Charcot-Marie-Tooth disease axonal type 2F 1 0 0 0 0 0 1
Childhood hypophosphatasia 1 0 0 0 0 0 1
Ciliopathy 0 0 1 0 0 0 1
Cirrhosis, familial 0 0 1 0 0 0 1
Classic homocystinuria 0 0 0 1 0 0 1
Cold-induced sweating syndrome 1 0 1 0 0 0 0 1
Combined malonic and methylmalonic acidemia 0 0 0 1 0 0 1
Complement component 7 deficiency 1 0 0 0 0 0 1
Cone-rod dystrophy 15 0 0 1 0 0 0 1
Congenital disorder of deglycosylation 1 0 1 0 0 0 0 1
Congenital hyperammonemia, type I 0 0 0 1 0 0 1
Corneal dystrophy, Fuchs endothelial, 8 0 0 0 1 0 0 1
Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase 1 0 0 0 0 0 1
Deficiency of beta-ureidopropionase 1 0 0 0 0 0 1
Dehydrated hereditary stomatocytosis 2 0 0 1 0 0 0 1
Developmental and epileptic encephalopathy, 37 0 0 0 1 0 0 1
Developmental and epileptic encephalopathy, 42 0 0 1 0 0 0 1
Developmental and epileptic encephalopathy, 62 1 0 0 0 0 0 1
Developmental and epileptic encephalopathy-107 0 0 1 0 0 0 1
Early infantile epileptic encephalopathy with suppression bursts 1 0 0 0 0 0 1
Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome 0 0 0 0 1 0 1
Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive 0 1 0 0 0 0 1
Ectodermal dysplasia 9, hair/nail type 0 0 1 0 0 0 1
Ellis-van Creveld syndrome 1 0 0 0 0 0 1
Encephalopathy, progressive, early-onset, with episodic rhabdomyolysis 0 1 0 0 0 0 1
Enhanced S-cone syndrome; Retinitis pigmentosa 37 1 0 0 0 0 0 1
Epileptic encephalopathy, infantile or early childhood, 1; Arthrogryposis, cleft palate, craniosynostosis, and impaired intellectual development 0 0 0 0 1 0 1
Erythrokeratodermia variabilis et progressiva 2 0 0 0 1 0 0 1
Ethylmalonic encephalopathy 1 0 0 0 0 0 1
Familial congenital diaphragmatic hernia 0 1 0 0 0 0 1
Familial hemophagocytic lymphohistiocytosis 2 1 0 0 0 0 0 1
Galactosylceramide beta-galactosidase deficiency 0 1 0 0 0 0 1
Galloway-Mowat syndrome 2, X-linked 0 0 1 0 0 0 1
Hepatic methionine adenosyltransferase deficiency 0 0 1 0 0 0 1
Hereditary myopathy with lactic acidosis due to ISCU deficiency 0 0 1 0 0 0 1
Hereditary pancreatitis 0 0 0 0 0 1 1
Hereditary spastic paraplegia 46 0 1 0 0 0 0 1
Hereditary spastic paraplegia 7 0 1 0 0 0 0 1
Hirschsprung disease, susceptibility to, 1 1 0 0 0 0 0 1
Hogue-Janssens syndrome 1 1 0 0 0 0 0 1
Hydrocephalus, congenital communicating, 1 0 0 0 1 0 0 1
Hyper-IgE recurrent infection syndrome 3, autosomal recessive 0 1 0 0 0 0 1
Hyperimmunoglobulin D with periodic fever 1 0 0 0 0 0 1
Hyperprolinemia type 2 0 1 0 0 0 0 1
Hypokalemic periodic paralysis, type 1 0 0 1 0 0 0 1
Immunodeficiency 47 0 0 1 0 0 0 1
Immunodeficiency 95 0 0 1 0 0 0 1
Immunodeficiency, common variable, 7 0 1 0 0 0 0 1
Infantile hypertrophic cardiomyopathy due to MRPL44 deficiency 0 1 0 0 0 0 1
Inherited Creutzfeldt-Jakob disease 0 1 0 0 0 0 1
Intellectual developmental disorder with speech delay, dysmorphic facies, and t-cell abnormalities 1 0 0 0 0 0 1
Intellectual disability, X-linked 102 0 1 0 0 0 0 1
Intellectual disability-hypotonic facies syndrome, X-linked, 1 0 0 1 0 0 0 1
Isolated anhidrosis with normal sweat glands 0 0 1 0 0 0 1
Isolated growth hormone deficiency, type 5 0 1 0 0 0 0 1
Joubert syndrome 30 0 0 0 0 1 0 1
Kleefstra syndrome 2 0 0 0 0 1 0 1
LIPE-related familial partial lipodystrophy 0 0 1 0 0 0 1
Larsen syndrome 0 0 0 1 0 0 1
Lethal congenital contracture syndrome 11 0 1 0 0 0 0 1
Leukodystrophy and acquired microcephaly with or without dystonia; 1 0 0 0 0 0 1
Long QT syndrome 1 1 0 0 0 0 0 1
Lowe syndrome 0 0 0 1 0 0 1
Lucey-Driscoll syndrome 0 0 1 0 0 0 1
MHC class I deficiency 0 0 1 0 0 0 1
MHC class II deficiency 0 1 0 0 0 0 1
MIRAGE syndrome 0 1 0 0 0 0 1
MPI-congenital disorder of glycosylation 1 0 0 0 0 0 1
Marfan syndrome 0 0 1 0 0 0 1
Maturity-onset diabetes of the young type 8 0 0 1 0 0 0 1
Medium-chain acyl-coenzyme A dehydrogenase deficiency 0 1 0 0 0 0 1
Mismatch repair cancer syndrome 4 1 0 0 0 0 0 1
Mitochondrial complex V (ATP synthase) deficiency nuclear type 2 1 0 0 0 0 0 1
Mucopolysaccharidosis, MPS-III-A 1 0 0 0 0 0 1
Nephrolithiasis, calcium oxalate 0 0 1 0 0 0 1
Neu-Laxova syndrome 1 0 0 1 0 0 0 1
Neurodevelopmental disorder and structural brain anomalies with or without seizures and spasticity 0 0 1 0 0 0 1
Neurodevelopmental disorder with hypotonia, neuropathy, and deafness 1 0 0 0 0 0 1
Neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy 0 0 0 1 0 0 1
Neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures 0 0 0 1 0 0 1
Neutropenia, severe congenital, 1, autosomal dominant 1 0 0 0 0 0 1
PAX6-related ocular dysgenesis 0 0 0 1 0 0 1
PULMONARY ALVEOLAR MICROLITHIASIS 0 1 0 0 0 0 1
Paramyotonia congenita of Von Eulenburg 0 1 0 0 0 0 1
Peroxisome biogenesis disorder 0 0 0 1 0 0 1
Peroxisome biogenesis disorder 1A (Zellweger) 1 0 0 0 0 0 1
Phytanic acid storage disease 0 0 1 0 0 0 1
Platelet-type bleeding disorder 10 0 0 1 0 0 0 1
Polydactyly, postaxial, type A8 1 0 0 0 0 0 1
Polydactyly, postaxial, type a10 0 0 1 0 0 0 1
Primary ciliary dyskinesia 3 0 0 1 0 0 0 1
Primary ciliary dyskinesia 7 0 0 1 0 0 0 1
Proline dehydrogenase deficiency 0 0 0 0 1 0 1
Propionic acidemia 1 0 0 0 0 0 1
Pyruvate kinase deficiency of red cells 0 1 0 0 0 0 1
Recombinase activating gene 2 deficiency 1 0 0 0 0 0 1
Retinitis pigmentosa 10 0 0 0 1 0 0 1
Schaaf-Yang syndrome 1 0 0 0 0 0 1
Spinocerebellar ataxia 27A 1 0 0 0 0 0 1
Spondyloepimetaphyseal dysplasia with multiple dislocations 0 0 1 0 0 0 1
Steel syndrome 0 0 1 0 0 0 1
Stickler syndrome type 2 0 0 1 0 0 0 1
Succinate-semialdehyde dehydrogenase deficiency 0 0 1 0 0 0 1
Tyrosinase-negative oculocutaneous albinism 1 0 0 0 0 0 1
Tyrosinase-positive oculocutaneous albinism 1 0 0 0 0 0 1
Ullrich congenital muscular dystrophy 1A 0 0 1 0 0 0 1
Usher syndrome type 2A; Retinitis pigmentosa 39 0 0 1 0 0 0 1
Vitamin D-dependent rickets type II with alopecia 0 0 1 0 0 0 1
Vitamin D-dependent rickets, type 1A 0 0 1 0 0 0 1
Wolman disease 0 1 0 0 0 0 1
X-linked cone-rod dystrophy 1 0 0 1 0 0 0 1
Yoon-Bellen neurodevelopmental syndrome 0 1 0 0 0 0 1

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