ClinVar Miner

Variants studied for acromelic dysplasia

Included ClinVar conditions (38):
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 not provided total
201 26 717 344 151 4 1424

Gene and significance breakdown #

Total genes and gene combinations: 26
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
FBN1 22 13 83 83 18 1 218
ADAMTS17 5 0 137 31 41 0 213
TRPS1 61 2 50 62 28 0 202
SMAD4 7 0 82 47 8 1 143
PDE4D 11 0 41 32 26 0 110
IFT140 13 0 74 17 8 0 107
LTBP2 1 0 90 9 0 0 100
ADAMTSL2 9 0 47 12 8 0 74
ADAMTS10 8 0 38 13 3 0 62
IFT140, LOC105371046 9 2 31 8 3 0 51
FAM20A, PRKAR1A 4 1 15 18 6 0 44
GNAS 32 5 5 0 1 0 42
FLNA 1 0 14 0 0 0 15
PRKAR1A 0 1 4 8 1 0 14
PRMT7 8 1 1 0 0 2 11
IHH 2 1 1 0 0 0 4
LTBP3 3 0 2 0 0 0 4
LOC110120802, TRPS1 3 0 0 0 0 0 3
EXT1 0 0 0 2 0 0 2
FBN1, LOC113939944 0 0 0 2 0 0 2
AARD, ANXA13, ATAD2, C8orf76, CCN3, COL14A1, COLEC10, DEPTOR, DERL1, DSCC1, EIF3H, ENPP2, EXT1, FAM83A, FAM91A1, FBXO32, FER1L6, HAS2, KLHL38, LINC00536, LRATD2, MAL2, MED30, MRPL13, MTBP, MTSS1, MYC, NDUFB9, NSMCE2, NTAQ1, PCAT1, POU5F1B, PVT1, RAD21, RNF139, SAMD12, SLC30A8, SNTB1, SQLE, TAF2, TATDN1, TBC1D31, TMEM65, TNFRSF11B, TRIB1, TRMT12, TRPS1, UTP23, WASHC5, ZHX1, ZHX1-C8orf76, ZHX2, ZNF572 1 0 0 0 0 0 1
ACADL, CPS1, KANSL1L, LANCL1, MAP2, MYL1, RPE, UNC80 0 0 1 0 0 0 1
DEPDC1B, PART1, PDE4D 0 0 1 0 0 0 1
ERBB4, IKZF2, SPAG16 0 0 1 0 0 0 1
FLNA, LOC107988032 0 0 1 0 0 0 1
IFT140, TELO2 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 51
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Illumina Clinical Services Laboratory,Illumina 0 2 632 335 145 0 1113
OMIM 104 0 0 0 0 0 104
GeneReviews 51 0 0 0 0 0 51
Fulgent Genetics,Fulgent Genetics 14 5 29 0 0 0 48
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 4 8 29 0 0 0 41
Invitae 20 1 11 2 2 0 36
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen 0 0 0 3 23 0 26
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center 0 0 0 4 7 0 11
Laboratory of Medical Genetics, INSERM 11 0 0 0 0 0 11
Genomic Research Center, Shahid Beheshti University of Medical Sciences 2 1 5 0 0 0 8
Johns Hopkins Genomics,Johns Hopkins University 4 0 2 0 1 0 7
Mendelics 1 0 1 0 4 0 6
Unit U781; INSERM (Institut National de la Santé Et de la Recherche Médicale) 4 0 0 0 0 0 4
Institute of Human Genetics,Klinikum rechts der Isar 4 0 0 0 0 0 4
Broad Institute Rare Disease Group,Broad Institute 1 1 2 0 0 0 4
Baylor Genetics 3 0 0 0 0 0 3
GenomeConnect, ClinGen 0 0 0 0 0 3 3
Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn 3 0 0 0 0 0 3
Genome Diagnostics Laboratory,University Medical Center Utrecht 0 0 0 0 2 0 2
Shenzhen Institute of Pediatrics,Shenzhen Children's Hospital 1 0 1 0 0 0 2
Division of Human Genetics,Children's Hospital of Philadelphia 0 0 2 0 0 0 2
Programa de Pós-Graduação em Ciências Genômicas e Biotecnologia,Universidade Católica de Brasília 2 0 0 0 0 0 2
Laboratory of Metabolic Disorders, Peking University First Hospital 2 0 0 0 0 0 2
Centre for Genomic Medicine, Manchester,Central Manchester University Hospitals 2 0 0 0 0 0 2
Soonchunhyang University Bucheon Hospital,Soonchunhyang University Medical Center 0 1 1 0 0 0 2
Undiagnosed Diseases Network,NIH 0 1 1 0 0 0 2
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 2 0 0 0 0 0 2
Area of Clinical and Molecular Genetics,Hospital Universitario Vall de Hebron 2 0 0 0 0 0 2
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 0 1 1 0 0 0 2
Genetic Services Laboratory, University of Chicago 1 0 0 0 0 0 1
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine 0 1 0 0 0 0 1
Molecular Diagnostics Lab,Nemours Alfred I. duPont Hospital for Children 0 1 0 0 0 0 1
Brunetti-Pierri's lab TIGEM 0 0 0 0 0 1 1
Elahi Laboratory, University of Tehran 1 0 0 0 0 0 1
Institute of Human Genetics,Friedrich-Alexander-Universität Erlangen-Nürnberg 0 1 0 0 0 0 1
UCLA Clinical Genomics Center, UCLA 0 1 0 0 0 0 1
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 0 0 1 0 0 0 1
Gene Discovery Core-Manton Center,Boston Children's Hospital 0 1 0 0 0 0 1
Department of Medical Genetics,Sanjay Gandhi Post Graduate Institute of Medical Sciences 1 0 0 0 0 0 1
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 1 0 0 0 0 0 1
Groupe Hospitalier Pitie Salpetriere, UF Genomique du Developpement,Assistance Publique Hopitaux de Paris 1 0 0 0 0 0 1
SIB Swiss Institute of Bioinformatics 0 0 1 0 0 0 1
Geisinger Autism and Developmental Medicine Institute,Geisinger Health System 0 0 1 0 0 0 1
Rare Disease Group, Clinical Genetics,Karolinska Institutet 1 0 1 0 0 0 1
Genetic Endocrinology Unit / Unidade de Endocrinologia Genetica - LIM25, Universidade de Sao Paulo (USP) 0 1 0 0 0 0 1
Genome Diagnostics Laboratory,VU University Medical Center Amsterdam 0 0 0 0 1 0 1
Génétique des Maladies du Développement, Hospices Civils de Lyon 0 0 1 0 0 0 1
Molecular Diagnostics Laboratory, M Health: University of Minnesota 1 0 0 0 0 0 1
Genomic Medicine Lab, University of California San Francisco 1 0 0 0 0 0 1
Pediatric Department,The First Affiliated Hospital of Guangxi Medical University 1 0 0 0 0 0 1
Clinical Genomics Unit,Sheba Medical Center 1 0 0 0 0 0 1

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