ClinVar Miner

Variants from Payam Genetics Center, General Welfare Department of North Khorasan Province

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
31 12 6 0 4 53

Gene and significance breakdown #

Total genes and gene combinations: 51
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Gene or gene combination pathogenic likely pathogenic uncertain significance benign total
CFTR 0 0 0 3 3
ADAMTS18 1 0 0 0 1
ALG2 0 1 0 0 1
ASCC1 1 0 0 0 1
ASPM 0 1 0 0 1
ATP2B2 1 0 0 0 1
ATP7B 0 1 0 0 1
B3GALT6 1 0 0 0 1
B4GALNT1 1 0 0 0 1
BRWD3 1 0 0 0 1
CENPE 0 0 1 0 1
CFAP96, UFSP2 1 0 0 0 1
CFTR, LOC111674477 0 0 0 1 1
CIB2 1 0 0 0 1
CNGB1 0 1 0 0 1
COL12A1 0 1 0 0 1
CPLANE1 0 1 0 0 1
CYP27B1 1 0 0 0 1
GJB2 1 0 0 0 1
GNPTAB 1 0 0 0 1
GPHN, RDH12 1 0 0 0 1
GRXCR1 1 0 0 0 1
ITGB6 0 1 0 0 1
KCNQ5 1 0 0 0 1
KIAA0586 1 0 0 0 1
LIPA 1 0 0 0 1
MPO 1 0 0 0 1
MYO15A 1 0 0 0 1
NADSYN1 0 0 1 0 1
NPC1 1 0 0 0 1
OBSL1 0 1 0 0 1
OTOA 1 0 0 0 1
PAH 1 0 0 0 1
PANK2 1 0 0 0 1
PEX11B 1 0 0 0 1
PEX6 0 1 0 0 1
PLEKHM1 0 0 1 0 1
SCN1A 1 0 0 0 1
SGCB 1 0 0 0 1
SH3PXD2B 0 0 1 0 1
SH3TC2 1 0 0 0 1
SLC16A2 1 0 0 0 1
SLC1A4 1 0 0 0 1
SLC38A8 0 0 1 0 1
SMPD1 0 0 1 0 1
SPINK5 1 0 0 0 1
TIMMDC1 0 1 0 0 1
TMC1 0 1 0 0 1
TSEN2 1 0 0 0 1
UQCC2 1 0 0 0 1
WFS1 0 1 0 0 1

Condition and significance breakdown #

Total conditions: 50
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Condition pathogenic likely pathogenic uncertain significance benign total
Cystic fibrosis 0 0 0 4 4
3M syndrome 2 0 1 0 0 1
Allan-Herndon-Dudley syndrome 1 0 0 0 1
Amelogenesis imperfecta type 1H 0 1 0 0 1
Autosomal recessive limb-girdle muscular dystrophy type 2E 1 0 0 0 1
Autosomal recessive nonsyndromic hearing loss 12 1 0 0 0 1
Autosomal recessive nonsyndromic hearing loss 1A 1 0 0 0 1
Autosomal recessive nonsyndromic hearing loss 22 1 0 0 0 1
Autosomal recessive nonsyndromic hearing loss 25 1 0 0 0 1
Autosomal recessive nonsyndromic hearing loss 3 1 0 0 0 1
Autosomal recessive nonsyndromic hearing loss 7 0 1 0 0 1
Autosomal recessive osteopetrosis 1 0 0 1 0 1
Charcot-Marie-Tooth disease type 4C 1 0 0 0 1
Congenital myasthenic syndrome 14 0 1 0 0 1
Developmental and epileptic encephalopathy, 1 1 0 0 0 1
Familial aplasia of the vermis 0 1 0 0 1
Foveal hypoplasia - optic nerve decussation defect - anterior segment dysgenesis syndrome 0 0 1 0 1
Frank-Ter Haar syndrome 0 0 1 0 1
Generalized epilepsy with febrile seizures plus, type 2 1 0 0 0 1
Hereditary spastic paraplegia 26 1 0 0 0 1
Hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa, and pallidal degeneration 1 0 0 0 1
Intellectual disability, X-linked 93 1 0 0 0 1
Intellectual disability, autosomal dominant 46 1 0 0 0 1
Joubert syndrome 23 1 0 0 0 1
Leber congenital amaurosis 13 1 0 0 0 1
Microcephaly 13, primary, autosomal recessive 0 0 1 0 1
Microcephaly 5, primary, autosomal recessive 0 1 0 0 1
Microcornea-myopic chorioretinal atrophy 1 0 0 0 1
Mitochondrial complex I deficiency, nuclear type 1 0 1 0 0 1
Mitochondrial complex III deficiency nuclear type 7 1 0 0 0 1
Myeloperoxidase deficiency 1 0 0 0 1
Netherton syndrome 1 0 0 0 1
Niemann-Pick disease, type A 0 0 1 0 1
Niemann-Pick disease, type C1 1 0 0 0 1
Peroxisome biogenesis disorder 14B 1 0 0 0 1
Peroxisome biogenesis disorder 4A (Zellweger) 0 1 0 0 1
Phenylketonuria 1 0 0 0 1
Pontocerebellar hypoplasia type 2B 1 0 0 0 1
Pseudo-Hurler polydystrophy 1 0 0 0 1
Retinitis pigmentosa 45 0 1 0 0 1
Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome 1 0 0 0 1
Spinal muscular atrophy with congenital bone fractures 2 1 0 0 0 1
Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures 1 0 0 0 1
Ullrich congenital muscular dystrophy 0 1 0 0 1
Usher syndrome type 1J 1 0 0 0 1
Vertebral, cardiac, renal, and limb defects syndrome 1 0 0 1 0 1
Vitamin D-dependent rickets, type 1A 1 0 0 0 1
Wilson disease 0 1 0 0 1
Wolfram syndrome 1 0 1 0 0 1
Wolman disease 1 0 0 0 1

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