ClinVar Miner

Variants from Gene Discovery Core-Manton Center, Boston Children's Hospital

Location: United States  Primary collection method: research
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
33 19 8 0 0 60

Gene and significance breakdown #

Total genes and gene combinations: 39
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Gene or gene combination pathogenic likely pathogenic uncertain significance total
EIF4A2 0 9 0 9
CLCN3 8 0 0 8
C19orf12 1 1 0 2
DARS2 1 1 0 2
DCHS1 1 0 1 2
KCTD7 0 2 0 2
MKS1 2 0 0 2
PMPCA 2 0 0 2
ADCY5 1 0 0 1
AIFM1, RAB33A 1 0 0 1
ASXL1 1 0 0 1
ATP1A3 1 0 0 1
BCORL1 0 0 1 1
BUB1, LIMS4, MALL, NPHP1, RGPD6 0 0 1 1
CAMK2B 0 1 0 1
CELF2 0 0 1 1
CLTC 0 0 1 1
FBXO11 0 1 0 1
FOXP1 1 0 0 1
GPHN, PALS1 1 0 0 1
GRIN2A 1 0 0 1
IGF1R 1 0 0 1
IGHMBP2 1 0 0 1
KMT2A 1 0 0 1
MAP1B 1 0 0 1
MECOM 1 0 0 1
NBEA 0 0 1 1
PMP22 1 0 0 1
PNPO 1 0 0 1
PPM1D 1 0 0 1
PRKAR1A 0 1 0 1
QRICH1 1 0 0 1
RCL1 1 0 0 1
SPTAN1 0 1 0 1
TAF1 0 0 1 1
TBL1XR1 0 1 0 1
TBX4 0 0 1 1
TFAP2B 0 1 0 1
WNT2B 1 0 0 1

Condition and significance breakdown #

Total conditions: 38
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Condition pathogenic likely pathogenic uncertain significance total
Neurodevelopmental disorder 0 9 0 9
Neurodevelopmental delay 8 0 0 8
Joubert syndrome 28 2 0 0 2
Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome 1 1 0 2
Neurodegeneration with brain iron accumulation 4 1 1 0 2
Normal pressure hydrocephalus; Failure to thrive; Optic atrophy; Hypoventilation; Blindness; Bilateral ptosis; Hypertrophic cardiomyopathy; Global brain atrophy; Chronic lactic acidosis; Restrictive external ophthalmoplegia; Infantile muscular hypotonia; Severe global developmental delay; Diffuse cerebellar atrophy 2 0 0 2
Progressive myoclonic epilepsy type 3 0 2 0 2
Psychotic disorder 1 0 1 2
Van Maldergem syndrome 1 1 0 1 2
Acrodysostosis 1 with or without hormone resistance 0 1 0 1
Bohring-Opitz syndrome 1 0 0 1
Cerebral palsy; Abnormal facial shape; Arachnoid cyst; Anxiety; Intellectual disability 1 0 0 1
Char syndrome 0 1 0 1
Charcot-Marie-Tooth disease axonal type 2S 1 0 0 1
Charcot-Marie-Tooth disease, type IA 1 0 0 1
Coxopodopatellar syndrome 0 0 1 1
Developmental and epileptic encephalopathy 97 0 0 1 1
Developmental and epileptic encephalopathy, 5 0 1 0 1
Dyskinesia with orofacial involvement, autosomal dominant 1 0 0 1
Failure to thrive; Diarrhea; Failure to thrive in infancy; Chronic diarrhea; Impaired feeding ability 1 0 0 1
Global developmental delay; Abnormal facial shape; Pyloric stenosis; Metopic synostosis; Attention deficit hyperactivity disorder; Hypotonia 1 0 0 1
Growth delay due to insulin-like growth factor I resistance 1 0 0 1
Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities 0 1 0 1
Intellectual developmental disorder with gastrointestinal difficulties and high pain threshold 1 0 0 1
Intellectual disability, X-linked, syndromic 33 0 0 1 1
Intellectual disability, autosomal dominant 41 0 1 0 1
Intellectual disability, autosomal dominant 54 0 1 0 1
Intellectual disability, autosomal dominant 56 0 0 1 1
Intellectual disability-severe speech delay-mild dysmorphism syndrome 1 0 0 1
Juvenile onset psychosis 1 0 0 1
Landau-Kleffner syndrome 1 0 0 1
Neurodevelopmental disorder with or without early-onset generalized epilepsy 0 0 1 1
Pyridoxal phosphate-responsive seizures 1 0 0 1
Radioulnar synostosis with amegakaryocytic thrombocytopenia 2 1 0 0 1
Severe X-linked mitochondrial encephalomyopathy 1 0 0 1
Shukla-Vernon syndrome 0 0 1 1
Ververi-Brady syndrome 1 0 0 1
Wiedemann-Steiner syndrome 1 0 0 1

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