ClinVar Miner

Variants from Wendy Chung Laboratory,Columbia University Medical Center

Location: United States — Primary collection method: case-control
Minimum submission review status: Collection method:
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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
6 11 16 0 0 33

Gene and significance breakdown #

Total genes and gene combinations: 11
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Gene or gene combination pathogenic likely pathogenic uncertain significance total
BMPR2 0 3 4 7
TBX4 0 3 4 7
PHIP 3 3 0 6
IRAK1BP1, PHIP 3 1 0 4
SMAD9 0 1 1 2
VARS 0 0 2 2
BMPR1A 0 0 1 1
BMPR1B 0 0 1 1
CAV1 0 0 1 1
ENG, LOC102723566 0 0 1 1
LSM1 0 0 1 1

Condition and significance breakdown #

Total conditions: 5
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Condition pathogenic likely pathogenic uncertain significance total
Pulmonary arterial hypertension associated with congenital heart disease 0 7 13 20
DEVELOPMENTAL DELAY, INTELLECTUAL DISABILITY, OBESITY, AND DYSMORPHIC FEATURES 6 4 0 10
Cryptorchidism; Triphalangeal thumb; Inguinal hernia; Feeding difficulties; Hemivertebrae; Constipation; Oligohydramnios; Hydroureter; Abnormal facial shape; Hypospadias, penile; 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 1
Delayed speech and language development; Premature birth; Intellectual disability; Generalized hypotonia; Elevated hepatic transaminases; Postnatal microcephaly 0 0 1 1
Delayed speech and language development; Premature birth; Microcephaly; Intellectual disability; Generalized hypotonia; Elevated hepatic transaminases 0 0 1 1

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