ClinVar Miner

Variants in gene ABCA1

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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
26 3 176 53 132 310

Condition and significance breakdown #

Total conditions: 14
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Condition pathogenic likely pathogenic uncertain significance likely benign benign total
Tangier disease 16 1 162 33 60 270
Familial hypoalphalipoproteinemia 5 0 101 26 107 239
not specified 0 0 3 9 20 32
not provided 3 0 8 5 15 30
Familial High Density Lipoprotein Deficiency 0 0 5 5 8 18
ABCA1-Related Disorders 2 0 1 0 0 3
Familial hypercholesterolemia 1 0 0 2 0 0 2
Coronary heart disease in familial hypercholesterolemia, protection against 0 0 0 0 1 1
Early-onset coronary artery disease 0 1 0 0 0 1
Familial hypercholesterolemia 0 0 1 0 0 1
High density lipoprotein cholesterol level quantitative trait locus 13 0 0 0 0 1 1
Inborn genetic diseases 0 1 0 0 0 1
Severe Myopia 0 0 1 0 0 1
Tangier disease, variant 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 14
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Illumina Clinical Services Laboratory,Illumina 3 0 161 45 115 256
Integrated Genetics/Laboratory Corporation of America 0 1 6 11 26 44
OMIM 21 0 0 0 2 23
Invitae 0 0 0 2 7 9
CeGaT Praxis fuer Humangenetik Tuebingen 2 0 5 1 0 8
Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics, Cincinnati Children's Hospital Medical Center 0 0 0 0 3 3
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 2 0 0 2
Baylor Genetics 0 1 0 0 0 1
GeneDx 1 0 0 0 0 1
Ambry Genetics 0 1 0 0 0 1
Mendelics 0 0 1 0 0 1
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 0 0 1 0 0 1
Soonchunhyang University Bucheon Hospital,Soonchunhyang University Medical Center 0 0 1 0 0 1
Institute of Human Genetics,Polish Academy of Sciences 0 0 1 0 0 1

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