ClinVar Miner

Variants studied for acromelic dysplasia

Included ClinVar conditions (37):
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
185 21 706 345 170 3 1398

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 11 82 83 18 0 215
ADAMTS17 5 0 135 31 41 0 211
TRPS1 51 2 51 62 29 0 193
SMAD4 7 0 82 47 8 1 143
PDE4D 11 0 41 32 26 0 110
IFT140 11 0 71 17 18 0 104
LTBP2 1 0 87 9 0 0 97
ADAMTSL2 9 0 47 12 8 0 74
ADAMTS10 8 0 38 13 3 0 62
IFT140, LOC105371046 8 2 30 9 12 0 52
FAM20A, PRKAR1A 4 1 15 18 6 0 44
GNAS 29 4 3 0 0 0 36
FLNA 1 0 14 0 0 0 15
PRKAR1A 0 0 4 8 1 0 13
PRMT7 8 1 0 0 0 2 10
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
IHH 2 0 0 0 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, PCAT1, POU5F1B, PVT1, RAD21, RNF139, SAMD12, SLC30A8, SNTB1, SQLE, TAF2, TATDN1, TBC1D31, TMEM65, TNFRSF11B, TRIB1, TRMT12, TRPS1, UTP23, WASHC5, WDYHV1, 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: 44
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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
Invitae 13 1 10 3 24 0 51
GeneReviews 51 0 0 0 0 0 51
Fulgent Genetics 14 5 29 0 0 0 48
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 4 6 23 0 0 0 33
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 4 0 0 0 7
Unit U781; INSERM (Institut National de la Santé Et de la Recherche Médicale) 4 0 0 0 0 0 4
Baylor Miraca Genetics Laboratories, 3 0 0 0 0 0 3
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 3 0 0 0 0 0 3
Rare Disease Group, Clinical Genetics,Karolinska Institutet 1 0 2 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
Soonchunhyang University Bucheon Hospital,Soonchunhyang University Medical Center 0 1 1 0 0 0 2
Area of Clinical and Molecular Genetics,Hospital Universitario Vall de Hebron 2 0 0 0 0 0 2
GenomeConnect, ClinGen 0 0 0 0 0 2 2
Broad Institute Rare Disease Group,Broad Institute 1 1 0 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,Klinikum rechts der Isar 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,Institute of Human Genetics 0 0 1 0 0 0 1
Department of Medical Genetics,Sanjay Gandhi Post Graduate Institute of Medical Sciences 1 0 0 0 0 0 1
Undiagnosed Diseases Network,NIH 0 0 1 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
Rady Children's Institute for Genomic Medicine,Rady Children's Hospital San Diego 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
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
Laboratoire de Cytogenetique,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
Pediatric Department,The First Affiliated Hospital of Guangxi Medical University 1 0 0 0 0 0 1

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