ClinVar Miner

Variants studied for Hermansky-Pudlak syndrome

Included ClinVar conditions (12):
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
122 46 651 139 148 1042

Gene and significance breakdown #

Total genes and gene combinations: 15
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
AP3B1 17 0 185 59 31 262
HPS1 29 18 96 12 40 182
HPS4 12 2 112 19 21 162
HPS5 22 2 77 12 21 130
HPS3 7 7 56 12 12 89
HPS6 16 12 41 4 8 79
CP, HPS3 5 2 42 9 12 68
BLOC1S6 1 3 30 10 3 44
DTNBP1 3 0 8 0 0 10
BLOC1S3 5 0 3 1 0 9
BLOC1S5 2 0 0 0 0 2
HPS1, LOC101927278 0 0 1 1 0 2
​intergenic 1 0 0 0 0 1
AP3D1 1 0 0 0 0 1
BLOC1S5, BLOC1S5-TXNDC5, EEF1E1-BLOC1S5 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 34
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Illumina Clinical Services Laboratory,Illumina 0 1 446 65 115 627
Invitae 5 0 152 54 26 237
Natera, Inc. 6 1 56 17 32 112
GeneReviews 57 0 0 0 4 61
OMIM 57 0 0 0 0 57
NIHR Bioresource Rare Diseases, University of Cambridge 11 17 3 0 0 30
Laboratoire de Génétique Moléculaire, CHU Bordeaux 11 2 0 0 0 13
Baylor Genetics 2 2 5 0 0 9
Johns Hopkins Genomics, Johns Hopkins University 0 0 2 3 4 9
Genetic Services Laboratory, University of Chicago 5 1 0 0 0 6
University of Washington Center for Mendelian Genomics, University of Washington 0 6 0 0 0 6
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 3 2 0 0 0 5
Blood Cell Research,Sanquin 5 0 0 0 0 5
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 5 0 0 5
Laboratoire de Genetique Moleculaire,Centre Hospitalier Universitaire de Bordeaux 5 0 0 0 0 5
Genetics and Prenatal Diagnosis Center,The First Affiliated Hospital of Zhengzhou University 0 5 0 0 0 5
Fulgent Genetics,Fulgent Genetics 0 0 4 0 0 4
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center 0 0 0 4 0 4
Genome Diagnostics Laboratory,University Medical Center Utrecht 0 0 0 3 0 3
Counsyl 0 1 0 1 1 3
Center of Medical Genetics,Central South University 2 1 0 0 0 3
Integrated Genetics/Laboratory Corporation of America 1 1 0 0 0 2
Centre for Mendelian Genomics,University Medical Centre Ljubljana 2 0 0 0 0 2
Diagnostics Lab (ASPIRE), CSIR - Centre for Cellular and Molecular Biology 1 1 0 0 0 2
Clinical Molecular Genetics Laboratory,Johns Hopkins All Children's Hospital 1 0 0 0 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 1 0 0 0 1
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 0 1 0 0 0 1
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 0 1 0 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 1 0 0 0 0 1
Department of Pathology and Laboratory Medicine,Sinai Health System 0 1 0 0 0 1
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 0 0 1 0 0 1
Department of Genetics,Sultan Qaboos University Hospital, Oman 0 1 0 0 0 1
UNC Molecular Genetics Laboratory,University of North Carolina at Chapel Hill 0 1 0 0 0 1
UOSD Laboratory of Genetics & Genomics of Rare Diseases,Istituto Giannina Gaslini 0 0 1 0 0 1

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