ClinVar Miner

Variants studied for dermis disease

Included ClinVar conditions (115):
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
1358 235 2165 1057 655 26 5296

Gene and significance breakdown #

Total genes and gene combinations: 88
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
COL3A1 442 40 139 95 34 5 716
NOTCH1 22 9 264 166 90 1 546
FLNA 43 23 148 76 92 2 379
ABCC6 352 4 3 1 19 2 375
COL5A1 39 7 182 99 51 3 373
ZNF469 4 0 187 53 27 0 270
ELP1 4 44 154 53 22 0 251
COL5A2 8 5 123 46 37 2 218
ADAMTS2 3 4 134 41 46 0 203
COL1A2 39 22 80 43 29 1 202
PLOD1 14 3 117 47 13 0 177
SLC2A10 22 1 99 33 18 0 155
ARHGAP31 3 0 45 58 25 0 131
HRAS, LRRC56 17 6 42 34 7 0 103
COL5A1, LOC101448202 8 3 47 25 14 1 98
ATP7A 10 2 33 23 25 0 93
ELN 7 2 25 38 8 1 81
FGFR2 9 1 23 30 10 0 73
EFEMP2 9 2 23 24 9 0 65
LEMD3 5 1 32 20 1 0 59
LTBP4 10 0 32 9 7 0 58
HPGD 5 1 37 2 8 0 53
GORAB 6 3 30 7 3 0 49
ANTXR2 10 3 19 8 6 0 46
ALDH18A1 11 3 17 5 8 1 44
PRDM5 6 0 32 3 3 0 44
GNAS 30 6 3 0 0 0 38
CHST14 10 2 6 2 2 3 23
FKBP14 6 0 7 3 6 0 22
FLNA, LOC107988032 1 0 12 1 5 0 19
ATP6V0A2 12 1 4 0 2 0 18
DOCK6 6 2 2 0 8 1 18
COL1A1 12 1 4 0 0 0 17
SLC39A13 2 0 7 5 3 0 16
C1R 14 14 1 0 0 0 15
DLL4 12 1 3 0 0 0 15
PYCR1 13 1 1 0 0 0 15
B4GALT7 7 0 3 1 2 2 14
B3GALT6 6 0 5 1 1 0 13
ECM1 13 0 0 0 0 0 13
TNXB 0 1 10 0 0 1 12
SLCO2A1 10 1 0 0 0 0 11
EFEMP2, MUS81 1 0 7 1 2 0 10
KCTD1 10 0 0 0 0 0 10
DOCK6, LOC105372273 2 2 0 1 4 0 9
EOGT 7 2 0 0 1 0 9
FBLN5 6 0 2 0 1 0 9
GGCX 9 0 0 0 0 0 9
PORCN 7 1 1 0 0 0 9
DSE 2 0 2 1 2 0 7
GPNMB 6 0 0 0 0 0 6
AEBP1 5 1 0 0 0 0 5
HCCS 4 1 0 0 0 0 5
LOC106780803, TNXB 0 0 5 0 0 0 5
OSMR 5 0 0 0 0 0 5
RBPJ 2 3 0 0 0 0 5
C1S 2 2 2 0 0 0 4
KIT 4 0 0 0 0 0 4
PDGFB 1 0 1 1 2 0 4
RIN2 3 1 0 0 0 0 4
COX7B 3 0 0 0 0 0 3
ATP6V1A 2 0 0 0 0 0 2
ATP6V1E1 2 0 0 0 0 0 2
COL3A1, MIR3606 2 0 0 0 0 0 2
MFN2, PLOD1 0 0 0 0 2 0 2
MIR4673, NOTCH1 0 0 1 1 0 0 2
NDUFB11 2 0 0 0 0 0 2
​intergenic 0 0 1 0 0 0 1
ABCC1, ABCC6, FOPNL, LOC112340382, LOC113939949, MYH11, NDE1 1 0 0 0 0 0 1
ABCC1, ABCC6, FOPNL, LOC112340382, MYH11 1 0 0 0 0 0 1
ADAMTS2, LOC112997581 1 0 0 0 0 0 1
ADAR 0 0 1 0 0 0 1
ALB 1 0 0 0 0 0 1
BMS1 1 0 0 0 0 0 1
COL3A1, COL5A2, MIR1245A, MIR1245B, MIR3129, MIR3606, SLC40A1, WDR75 1 0 0 0 0 0 1
DNASE1L1, EMD, FLNA, RPL10, TAZ 0 0 1 0 0 0 1
EMD, FLNA 0 0 1 0 0 0 1
FAM120AOS 0 1 0 0 0 0 1
FBN2 0 0 1 0 0 0 1
FH 0 1 0 0 0 0 1
IL31RA 1 0 0 0 0 0 1
ITPR2 1 0 0 0 0 0 1
LINC01451, LOC110121282, MIR4674, NALT1, NOTCH1 1 0 0 0 0 0 1
LOC102723692, XYLT1 0 0 1 0 0 0 1
MED12 0 0 1 0 0 0 1
MYH11 0 0 1 0 0 0 1
TGFBR1 0 1 0 0 0 0 1
TNNT2 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 85
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 132 73 1256 678 457 0 2596
Illumina Clinical Services Laboratory,Illumina 3 1 750 354 147 0 1255
Collagen Diagnostic Laboratory,University of Washington 411 0 0 0 0 0 411
OMIM 409 0 0 0 0 0 409
PXE International 347 4 0 0 19 0 370
Fulgent Genetics 31 2 82 1 0 0 116
Counsyl 2 45 26 6 0 0 79
GeneReviews 61 0 0 0 9 0 70
Genome Diagnostics Laboratory,VU University Medical Center Amsterdam 0 0 1 11 42 0 54
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen 2 0 0 1 50 0 53
Centre of Medical Genetics, University of Antwerp 25 6 14 0 0 0 44
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 38 0 0 0 38
Claritas Genomics 8 15 6 0 0 0 29
Center for Human Genetics, Inc 3 3 13 8 0 0 27
University of Washington Center for Mendelian Genomics,University of Washington 10 16 0 0 0 0 26
GenomeConnect, ClinGen 0 0 0 0 0 24 24
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center 0 0 1 12 8 0 21
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 11 8 1 0 0 0 20
Division Human Genetics,Medical University Innsbruck 16 0 0 0 0 0 16
Baylor Miraca Genetics Laboratories, 9 2 3 1 0 0 15
Genomic Research Center,Shahid Beheshti University of Medical Sciences 4 3 8 0 0 0 15
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 13 0 1 0 0 0 14
Clinical Molecular Genetics Laboratory,Johns Hopkins All Children's Hospital 2 0 9 0 0 0 11
Genome Diagnostics Laboratory,University Medical Center Utrecht 0 0 0 4 7 0 11
Integrated Genetics/Laboratory Corporation of America 4 6 0 0 0 0 10
Molecular and Medical Genetics Group,King's College London 5 4 1 0 0 0 10
Blueprint Genetics, 2 3 4 0 0 0 9
CSER_CC_NCGL; University of Washington Medical Center 0 0 3 3 0 0 6
ClinGen RASopathy Variant Curation Expert Panel 3 1 2 0 0 0 6
Molecular Diagnostics Lab,Nemours Alfred I. duPont Hospital for Children 4 0 1 0 0 0 5
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic 0 1 3 0 1 0 5
Division of Human Genetics,Children's Hospital of Philadelphia 0 1 4 0 0 0 5
Soonchunhyang University Bucheon Hospital,Soonchunhyang University Medical Center 2 2 0 1 0 0 5
Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare 3 1 1 0 0 0 5
Centre for Mendelian Genomics,University Medical Centre Ljubljana 1 3 1 0 0 0 5
Molecular Diagnostics Laboratory,M Health: University of Minnesota 3 2 0 0 0 0 5
Department of Genetics,Sultan Qaboos University Hospital, Oman 2 3 0 0 0 0 5
Division of Genomic Diagnostics,The Children's Hospital of Philadelphia 1 0 1 0 2 0 4
UCLA Clinical Genomics Center, UCLA 0 4 0 0 0 0 4
University of British Columbia 0 3 0 0 1 0 4
Pediatric Services,National Institutes of Health, Clinical Center 0 0 4 0 0 0 4
SIB Swiss Institute of Bioinformatics 0 1 0 0 3 0 4
Clinical Genetics Group,University of Otago 4 0 0 0 0 0 4
Genetic Services Laboratory, University of Chicago 1 1 1 0 0 0 3
Mendelics 0 2 1 0 0 0 3
Developmental Genetics Unit,King Faisal Specialist Hospital & Research Centre 0 3 0 0 0 0 3
Undiagnosed Diseases Network,NIH 1 1 1 0 0 0 3
Institute for Human Genetics,University Clinic Freiburg 1 0 1 0 0 0 2
Institute of Human Genetics,Cologne University 0 0 2 0 0 0 2
Molecular Genetics Laboratory,BC Children's and BC Women's Hospitals 2 0 0 0 0 0 2
UniProtKB/Swiss-Prot 0 0 0 0 0 2 2
Institute of Human Genetics,Friedrich-Alexander-Universität Erlangen-Nürnberg 1 1 0 0 0 0 2
Institute of Human Genetics,University Medical Center Hamburg-Eppendorf 0 2 0 0 0 0 2
Knight Diagnostic Laboratories,Oregon Health and Sciences University 0 0 2 0 0 0 2
Foundation for Research in Genetics and Endocrinology,Institute of Human Genetics 1 1 0 0 0 0 2
Lupski Lab, Baylor-Hopkins CMG,Baylor College of Medicine 1 1 0 0 0 0 2
Diagnostics Division,Centre for DNA Fingerprinting and Diagnostics 0 2 0 0 0 0 2
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 0 0 2 0 0 0 2
Hehr Laboratory,Center for Human Genetics - University of Regensburg 0 1 0 0 0 0 1
Victorian Clinical Genetics Services,Murdoch Childrens Research Institute 1 0 0 0 0 0 1
Human Genome Sequencing Center Clinical Lab,Baylor College of Medicine 0 1 0 0 0 0 1
Institute of Human Genetics,Klinikum rechts der Isar 1 0 0 0 0 0 1
ITMI 1 0 0 0 0 0 1
Centre for Translational Omics - GOSgene,University College London 0 1 0 0 0 0 1
Medical Genetics UMG,Mater Domini University Hospital/ Magna Graecia University of Catanzaro 1 0 0 0 0 0 1
Center of Genomic medicine, Geneva,University Hospital of Geneva 1 0 0 0 0 0 1
Laboratory of Molecular Genetics,CHU RENNES 0 1 0 0 0 0 1
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease,Montreal Heart Institute 1 0 0 0 0 0 1
Talkowski Laboratory, Center for Human Genetic Research,Massachusetts General Hospital 0 0 1 0 0 0 1
Equipe Genetique des Anomalies du Developpement,Université de Bourgogne 0 1 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
Ege University Pediatric Genetics,Ege University 0 0 1 0 0 0 1
Yale Center for Mendelian Genomics,Yale University 1 0 0 0 0 0 1
CHLA Center for Personalized Medicine,Children's Hospital, Los Angeles 0 0 1 0 0 0 1
Unidade de Endocrinologia Genetica - LIM25,Universidade de Sao Paulo (USP) 0 1 0 0 0 0 1
Clinical Genetics Department,Hospital Sant Joan de Deu 1 0 0 0 0 0 1
GeneID Lab - Advanced Molecular Diagnostics 0 1 0 0 0 0 1
Laboratoire de Cytogenetique,Hospices Civils de Lyon 0 0 1 0 0 0 1
Broad Institute Rare Disease Group,Broad Institute 0 1 0 0 0 0 1
Laboratory of Medical Genetics,National & Kapodistrian University of Athens 1 0 0 0 0 0 1
Division of Medical Genetics,University of Versailles 0 1 0 0 0 0 1
Myelin Disorders Clinic,Children's Medical Center 0 1 0 0 0 0 1
Johns Hopkins Genomics,Johns Hopkins University 0 1 0 0 0 0 1
University of Washington Department of Laboratory Medicine,University of Washington 0 0 0 0 1 0 1

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