ClinVar Miner

Variants from Pediatric Genetics Clinic, Sheba Medical Center

Location: Israel  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
100 22 4 0 0 126

Gene and significance breakdown #

Total genes and gene combinations: 106
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Gene or gene combination pathogenic likely pathogenic uncertain significance total
ARID1B 3 0 0 3
SMC1A 3 0 0 3
AHDC1 2 0 0 2
CFAP53 1 1 0 2
DNAH5 2 0 0 2
FOXP1 1 1 0 2
KANSL1 2 0 0 2
KCNMA1 0 1 1 2
KCNQ2 2 0 0 2
KMT5B 2 0 0 2
MAP2K1 2 0 0 2
MED13L 2 0 0 2
OPHN1 2 0 0 2
STXBP1 2 0 0 2
TCF20 2 0 0 2
TCF4 2 0 0 2
TRMT1 1 1 0 2
VPS13B 2 0 0 2
ANKRD11 1 0 0 1
ARID1A 0 1 0 1
AUTS2 0 1 0 1
BCL11B 0 1 0 1
BRPF1 1 0 0 1
CACNA1C 1 0 0 1
CASK 1 0 0 1
CCDC39 0 1 0 1
CCDC40 1 0 0 1
CDK13 1 0 0 1
CELSR1 0 0 1 1
CERS1, GDF1 1 0 0 1
CFAP298, CFAP298-TCP10L 1 0 0 1
CFAP300 1 0 0 1
CFAP46 0 0 1 1
CHAMP1 1 0 0 1
CLCN4 1 0 0 1
CNTNAP2 1 0 0 1
COL1A1 1 0 0 1
CTNNB1, LOC126806658 1 0 0 1
CUL4B 1 0 0 1
DAND5 0 1 0 1
DCX 0 1 0 1
DDX3X 0 1 0 1
DLG4, LOC126862479 1 0 0 1
DNAAF1 1 0 0 1
DNAAF11 1 0 0 1
DNAH6 0 0 1 1
DYNC1H1, LOC126862060 0 1 0 1
EFTUD2 0 1 0 1
EPG5 1 0 0 1
EPHB4, LOC126860124 1 0 0 1
EVC2 1 0 0 1
FGFR2 1 0 0 1
FOXP2 1 0 0 1
GABRB3 1 0 0 1
GRIN2B 0 1 0 1
HDAC8 1 0 0 1
KCNQ3 0 1 0 1
KCNT1 1 0 0 1
KMT2A 1 0 0 1
KMT2D 1 0 0 1
LOC102724058, SCN1A 1 0 0 1
LOC129998021, TWIST1 1 0 0 1
MEA1, PPP2R5D 1 0 0 1
MYT1L 1 0 0 1
NEXMIF 1 0 0 1
NF1 1 0 0 1
NSD1 0 1 0 1
ODAD4 1 0 0 1
PACS1 1 0 0 1
PAFAH1B1 1 0 0 1
PBX1 0 1 0 1
PKD1L1 0 1 0 1
POGZ 1 0 0 1
PPP2CA 1 0 0 1
PPP2R5D 1 0 0 1
PTPN11 1 0 0 1
RB1 1 0 0 1
RPS6KA3 1 0 0 1
SATB2 1 0 0 1
SCN2A 1 0 0 1
SCN8A 1 0 0 1
SCUBE3 0 1 0 1
SETBP1 1 0 0 1
SETD1A 1 0 0 1
SETD2 1 0 0 1
SHH 1 0 0 1
SLC1A4 1 0 0 1
SMAD4 1 0 0 1
SNHG14, UBE3A 0 1 0 1
SOX9 0 1 0 1
SSR4 1 0 0 1
SYNGAP1 1 0 0 1
SYT1 1 0 0 1
TBL1XR1 1 0 0 1
TBR1 1 0 0 1
TRIP12 1 0 0 1
TRMT10A 1 0 0 1
TSEN54 1 0 0 1
TSPAN7 1 0 0 1
TUBA1A 1 0 0 1
USP7 0 1 0 1
WDR45 1 0 0 1
YWHAG 1 0 0 1
ZC4H2 1 0 0 1
ZEB2 1 0 0 1
ZSWIM6 1 0 0 1

Condition and significance breakdown #

Total conditions: 90
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Condition pathogenic likely pathogenic uncertain significance total
Heterotaxy 10 4 3 17
Coffin-Siris syndrome 1 3 1 0 4
Congenital muscular hypertrophy-cerebral syndrome 3 0 0 3
AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome 2 0 0 2
Cardiac anomalies - developmental delay - facial dysmorphism syndrome 2 0 0 2
Cardiofaciocutaneous syndrome 3 2 0 0 2
Cohen syndrome 2 0 0 2
Developmental and epileptic encephalopathy, 4 2 0 0 2
Developmental and epileptic encephalopathy, 7 2 0 0 2
Developmental delay with variable intellectual impairment and behavioral abnormalities 2 0 0 2
Generalized epilepsy-paroxysmal dyskinesia syndrome 0 1 1 2
Hogue-Janssens syndrome 1 2 0 0 2
Intellectual developmental disorder, autosomal recessive 68 1 1 0 2
Intellectual disability, autosomal dominant 51 2 0 0 2
Intellectual disability-severe speech delay-mild dysmorphism syndrome 1 1 0 2
Koolen-de Vries syndrome 2 0 0 2
Pitt-Hopkins syndrome 2 0 0 2
X-linked intellectual disability-cerebellar hypoplasia syndrome 2 0 0 2
Angelman syndrome 0 1 0 1
Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis 1 0 0 1
Autism spectrum disorder due to AUTS2 deficiency 0 1 0 1
Autism, susceptibility to, 5 1 0 0 1
Café-au-lait macules with pulmonary stenosis 1 0 0 1
Camptomelic dysplasia 0 1 0 1
Capillary malformation-arteriovenous malformation 2 1 0 0 1
Childhood apraxia of speech 1 0 0 1
Chromosome 2q32-q33 deletion syndrome 1 0 0 1
Clark-Baraitser syndrome 1 0 0 1
Coffin-Lowry syndrome 1 0 0 1
Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay 0 1 0 1
Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder 1 0 0 1
Cornelia de Lange syndrome 5 1 0 0 1
Cortical dysplasia-focal epilepsy syndrome 1 0 0 1
Developmental and epileptic encephalopathy, 11 1 0 0 1
Developmental and epileptic encephalopathy, 13 1 0 0 1
Developmental and epileptic encephalopathy, 14 1 0 0 1
Developmental and epileptic encephalopathy, 43 1 0 0 1
Developmental and epileptic encephalopathy, 56 1 0 0 1
Ellis-van Creveld syndrome 1 0 0 1
Epilepsy, early-onset, with or without developmental delay 1 0 0 1
Hao-Fountain syndrome 0 1 0 1
Houge-Janssens syndrome 3 1 0 0 1
Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome 1 0 0 1
Intellectual developmental disorder 62 1 0 0 1
Intellectual developmental disorder with dysmorphic facies and ptosis 1 0 0 1
Intellectual developmental disorder with speech delay, dysmorphic facies, and t-cell abnormalities 0 1 0 1
Intellectual disability 0 1 0 1
Intellectual disability, X-linked 102 0 1 0 1
Intellectual disability, X-linked 49 1 0 0 1
Intellectual disability, X-linked 58 1 0 0 1
Intellectual disability, autosomal dominant 13 0 1 0 1
Intellectual disability, autosomal dominant 29 1 0 0 1
Intellectual disability, autosomal dominant 39 1 0 0 1
Intellectual disability, autosomal dominant 40 1 0 0 1
Intellectual disability, autosomal dominant 41 1 0 0 1
Intellectual disability, autosomal dominant 5 1 0 0 1
Intellectual disability, autosomal dominant 6 0 1 0 1
Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome 1 0 0 1
KBG syndrome 1 0 0 1
Kabuki syndrome 1 1 0 0 1
Lissencephaly due to LIS1 mutation 1 0 0 1
Lissencephaly due to TUBA1A mutation 1 0 0 1
Lissencephaly type 1 due to doublecortin gene mutation 0 1 0 1
Luscan-Lumish syndrome 1 0 0 1
Mandibulofacial dysostosis-microcephaly syndrome 0 1 0 1
Microcephaly, short stature, and impaired glucose metabolism 1 1 0 0 1
Mowat-Wilson syndrome 1 0 0 1
Myhre syndrome 1 0 0 1
Neurodegeneration with brain iron accumulation 5 1 0 0 1
Neurodevelopmental disorder with movement abnormalities, abnormal gait, and autistic features 1 0 0 1
Noonan syndrome 1 1 0 0 1
Osteogenesis imperfecta type III 1 0 0 1
Partial agenesis of the corpus callosum 1 0 0 1
Pontocerebellar hypoplasia type 2A 1 0 0 1
Retinoblastoma 1 0 0 1
SSR4-congenital disorder of glycosylation 1 0 0 1
Saethre-Chotzen syndrome 1 0 0 1
Schuurs-Hoeijmakers syndrome 1 0 0 1
Severe intellectual disability-progressive spastic diplegia syndrome 1 0 0 1
Severe myoclonic epilepsy in infancy 1 0 0 1
Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies 2 0 1 0 1
Sotos syndrome 0 1 0 1
Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome 1 0 0 1
Syndromic X-linked intellectual disability Najm type 1 0 0 1
Timothy syndrome 1 0 0 1
Vici syndrome 1 0 0 1
Wieacker-Wolff syndrome, female-restricted 1 0 0 1
Wiedemann-Steiner syndrome 1 0 0 1
X-linked intellectual disability Cabezas type 1 0 0 1
X-linked intellectual disability, Cantagrel type 1 0 0 1

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