ClinVar Miner

Variants from Genomics, Clalit Research Institute, Clalit Health Care

Location: Israel  Primary collection method: clinical testing
Minimum submission review status: Collection method:
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Gene type:
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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
11 21 1 0 0 33

Gene and significance breakdown #

Total genes and gene combinations: 31
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Gene or gene combination pathogenic likely pathogenic uncertain significance total
TRIM63 2 1 0 3
ABCA1 1 0 0 1
ALDH3A2 0 1 0 1
AP3B1 0 1 0 1
CHD2 0 1 0 1
CHD8 1 0 0 1
CLCN1 1 0 0 1
COL4A4 0 1 0 1
DNAAF3 1 0 0 1
DNAH11 0 1 0 1
ELN 0 1 0 1
GATA6 0 1 0 1
GIGYF2, KCNJ13 0 1 0 1
IGSF1 1 0 0 1
LOC100507346, PTCH1 0 1 0 1
LZTR1 0 1 0 1
MCPH1 1 0 0 1
MYO7A 1 0 0 1
NDUFS4 0 1 0 1
NF1 0 1 0 1
PANK4 0 0 1 1
PCNT 0 1 0 1
PKD1 0 1 0 1
PKHD1 0 1 0 1
PRDM12 0 1 0 1
PTEN 1 0 0 1
SCN1A, SCN9A 0 1 0 1
SMAD6 0 1 0 1
SPRED1 0 1 0 1
TNNT1 1 0 0 1
TTN 0 1 0 1

Condition and significance breakdown #

Total conditions: 32
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Condition pathogenic likely pathogenic uncertain significance total
Hypertrophic cardiomyopathy 1 1 0 2
Aortic valve disease 2 0 1 0 1
Cataract 49 0 0 1 1
Congenital insensitivity to pain-hypohidrosis syndrome 0 1 0 1
Congenital myotonia, autosomal recessive form 1 0 0 1
Developmental and epileptic encephalopathy 94 0 1 0 1
Dilated cardiomyopathy 1G 0 1 0 1
Hematuria, benign familial, 1 0 1 0 1
Hermansky-Pudlak syndrome 2 0 1 0 1
Holoprosencephaly 7; Basal cell nevus syndrome 1 0 1 0 1
Idiopathic cardiomyopathy 1 0 0 1
Intellectual developmental disorder with autism and macrocephaly 1 0 0 1
Legius syndrome 0 1 0 1
Macrocephaly-autism syndrome 1 0 0 1
Microcephalic osteodysplastic primordial dwarfism type II 0 1 0 1
Microcephaly 1, primary, autosomal recessive 1 0 0 1
Mitochondrial complex I deficiency, nuclear type 1 0 1 0 1
Nemaline myopathy 5 1 0 0 1
Neurofibromatosis-Noonan syndrome 0 1 0 1
Noonan syndrome 10 0 1 0 1
Pancreatic hypoplasia-diabetes-congenital heart disease syndrome 0 1 0 1
Polycystic kidney disease 4 0 1 0 1
Polycystic kidney disease, adult type 0 1 0 1
Primary ciliary dyskinesia 2 1 0 0 1
Primary ciliary dyskinesia 7 0 1 0 1
Primary erythromelalgia 0 1 0 1
Retinitis pigmentosa 0 1 0 1
Sjögren-Larsson syndrome 0 1 0 1
Supravalvar aortic stenosis 0 1 0 1
Tangier disease 1 0 0 1
Usher syndrome type 1 1 0 0 1
X-linked central congenital hypothyroidism with late-onset testicular enlargement 1 0 0 1

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