ClinVar Miner

Variants studied for Primary pulmonary hypertension

Coded as:
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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
388 3 139 103 36 661

Gene and significance breakdown #

Total genes and gene combinations: 12
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
BMPR2 368 3 74 59 14 510
SMAD9 0 0 60 44 22 126
ACVRL1 14 0 0 0 0 14
ENG 2 0 0 0 0 2
SMAD4 0 0 2 0 0 2
BMPR2, NOP58, SNORD11, SNORD11B, SNORD70, SNORD70B 1 0 0 0 0 1
ENG, LOC102723566 1 0 0 0 0 1
FOXF1 1 0 0 0 0 1
KCNA5 0 0 1 0 0 1
KCNK3 1 0 0 0 0 1
SMAD1 0 0 1 0 0 1
TBX4 0 0 1 0 0 1

Submitter and significance breakdown #

Total submitters: 10
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Medical & Molecular Genetics Group,University of Lincoln 369 0 18 0 0 387
Illumina Clinical Services Laboratory,Illumina 0 0 114 99 32 245
Invitae 15 1 5 5 4 30
OMIM 22 0 0 0 0 22
Center for Genomic Medicine,Kyoto University Graduate School of Medicine 8 1 0 0 0 9
Blueprint Genetics, 1 1 0 0 0 2
Biesecker Lab/Human Development Section,National Institutes of Health 0 0 1 0 0 1
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 1 0 0 0 0 1
Soonchunhyang University Bucheon Hospital,Soonchunhyang University Medical Center 0 0 1 0 0 1
Center for Human Genetics and Laboratory Diagnostics, Dr. Klein, Dr. Rost and Colleagues 0 0 1 0 0 1

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