ClinVar Miner

Variants from Wendy Chung Laboratory, Boston Children's Hospital

Location: United States  Primary collection method: literature only
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:

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 not provided total
40 94 50 0 0 156 337

Gene and significance breakdown #

Total genes and gene combinations: 25
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Gene or gene combination pathogenic likely pathogenic uncertain significance not provided total
TBX4 4 22 17 45 86
BMPR2 0 3 4 69 75
BMPR1A 0 0 1 42 43
CACNA1A 12 19 0 0 31
PHIP 6 13 0 0 19
IRAK1BP1, PHIP 7 8 0 0 15
FRYL 0 0 14 0 14
CDC42BPB 0 12 0 0 12
MECOM 5 6 0 0 11
HK1 2 3 5 0 10
ATP13A3 3 2 0 0 5
SMAD9 0 1 1 0 2
VARS1 0 0 2 0 2
ATP5PO, LOC126653351 0 1 0 0 1
BICRA 0 1 0 0 1
BMPR1B 0 0 1 0 1
CACNA1A, LOC126862864 1 0 0 0 1
CACNA1A, LOC126862865 0 1 0 0 1
CAV1 0 0 1 0 1
ENG, LOC102723566 0 0 1 0 1
LOC125177526, TBX4 0 1 0 0 1
LSM1 0 0 1 0 1
MPEG1 0 0 1 0 1
NRROS 0 0 1 0 1
TRAPPC2L 0 1 0 0 1

Condition and significance breakdown #

Total conditions: 29
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Condition pathogenic likely pathogenic uncertain significance not provided total
Pulmonary arterial hypertension; Idiopathic and/or familial pulmonary arterial hypertension 0 0 0 99 99
Pulmonary hypertension, primary, 1 2 17 13 34 66
PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome 13 21 0 0 34
Episodic ataxia type 2; Spinocerebellar ataxia type 6; Migraine, familial hemiplegic, 1; Developmental and epileptic encephalopathy, 52 13 20 0 0 33
Pulmonary arterial hypertension associated with congenital heart disease 0 7 13 0 20
FRYL-related developmental disorder 0 0 14 0 14
CDC42BPB-related neurodevelopmental syndrome 0 12 0 0 12
MECOM-associated syndrome 5 6 0 0 11
Coxopodopatellar syndrome 0 1 0 9 10
Neurodevelopmental disorder with visual defects and brain anomalies 2 3 5 0 10
Pulmonary arterial hypertension 3 3 0 1 7
Pulmonary hypertension, primary, 1; Coxopodopatellar syndrome 1 2 0 1 4
Pulmonary arterial hypertension; Pulmonary arterial hypertension associated with another disease; Pulmonary arterial hypertension associated with connective tissue disease 0 0 0 3 3
Pulmonary arterial hypertension; Pulmonary arterial hypertension associated with congenital heart disease; Pulmonary arterial hypertension associated with another disease 0 0 0 3 3
Primary pulmonary hypoplasia 0 0 0 2 2
Autosomal recessive amelia 1 0 0 0 1
CSS12 + schizoaffective disorder, bipolar type/adult-onset psychiatric condition 0 1 0 0 1
Cryptorchidism; Triphalangeal thumb; Inguinal hernia; Feeding difficulties; Hemivertebrae; Constipation; Oligohydramnios; Hydroureter; Abnormal facial shape; Penile hypospadias; Strabismus; Intellectual disability; Generalized hypotonia; Mitral stenosis; Fetal pyelectasis; Patent ductus arteriosus after premature birth; Perimembranous ventricular septal defect; Neurodevelopmental delay; Bicuspid aortic valve 0 0 1 0 1
Delayed speech and language development; Premature birth; Intellectual disability; Generalized hypotonia; Elevated circulating hepatic transaminase concentration; Secondary microcephaly 0 0 1 0 1
Delayed speech and language development; Premature birth; Microcephaly; Intellectual disability; Generalized hypotonia; Elevated circulating hepatic transaminase concentration 0 0 1 0 1
Encephalopathy, progressive, early-onset, with episodic rhabdomyolysis 0 1 0 0 1
Immunodeficiency 77 0 0 1 0 1
Leigh syndrome 0 1 0 0 1
Pulmonary arterial hypertension associated with another disease 0 0 0 1 1
Pulmonary arterial hypertension; Drug- or toxin-induced pulmonary arterial hypertension 0 0 0 1 1
Pulmonary arterial hypertension; Drug- or toxin-induced pulmonary arterial hypertension; Pulmonary arterial hypertension associated with another disease 0 0 0 1 1
Pulmonary arterial hypertension; Pulmonary arterial hypertension associated with another disease 0 0 0 1 1
Pulmonary arterial hypertension; Pulmonary arterial hypertension associated with another disease; Pulmonary arterial hypertension associated with HIV infection 0 0 0 1 1
Seizures, early-onset, with neurodegeneration and brain calcifications 0 0 1 0 1

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