ClinVar Miner

Variants studied for dermis disease

Included ClinVar conditions (130):
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
1534 376 4075 1344 1284 48 8324

Gene and significance breakdown #

Total genes and gene combinations: 102
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
COL3A1 459 89 250 98 68 8 902
NOTCH1 26 12 477 204 102 2 809
FLNA 59 29 303 114 122 3 621
COL5A1 66 17 320 147 78 7 602
ADAMTS2 11 7 262 95 69 0 416
COL1A2 75 46 172 48 66 2 393
COL5A2 11 9 222 77 85 4 388
ABCC6 355 9 5 5 21 2 380
ELP1 6 47 204 23 33 0 298
PLOD1 22 4 202 51 24 0 285
ZNF469 4 0 187 55 27 2 274
SLC2A10 23 5 155 41 31 1 230
ATP7A 24 3 100 45 51 0 223
COL5A1, LOC101448202 16 10 98 35 36 2 192
HRAS, LRRC56 16 7 94 44 7 0 163
ANTXR2 10 5 102 15 29 0 161
ATP6V0A2 11 1 95 9 42 0 157
COL1A1 11 2 57 15 66 2 151
ALDH18A1 14 5 86 19 18 1 136
ARHGAP31 3 0 45 59 25 0 132
ELN 7 2 41 19 48 1 117
EFEMP2 13 4 64 28 12 0 110
FGFR2 9 1 45 12 43 0 109
LTBP4 10 1 55 3 26 2 97
LEMD3 5 1 49 12 23 0 90
HPGD 7 1 46 9 12 0 75
GORAB 7 3 40 2 12 0 64
PYCR1 17 3 36 2 6 0 64
FBLN5 6 0 25 4 27 1 61
FKBP14 8 2 24 6 8 0 48
PRDM5 6 0 34 4 4 0 48
SLC39A13 2 0 27 15 5 0 48
CHST14 12 2 22 5 3 3 45
GNAS 34 5 5 0 1 0 44
FLNA, LOC107988032 4 1 18 1 5 0 29
B3GALT6 7 0 11 3 5 0 26
B4GALT7 7 0 9 7 5 3 26
EOGT 7 2 4 3 9 0 24
EFEMP2, MUS81 1 0 18 1 3 0 21
DOCK6 6 2 2 0 8 1 18
DSE 2 0 5 4 7 0 18
C1R 15 15 1 0 0 0 17
DLL4 13 2 3 0 0 0 17
TNXB 0 1 13 0 1 1 15
SLCO2A1 10 3 1 0 0 0 14
ECM1 13 0 0 0 0 0 13
PORCN 9 3 1 0 0 0 13
KCTD1 10 0 0 0 0 0 10
DOCK6, LOC105372273 2 2 0 1 4 0 9
GGCX 9 0 0 0 0 0 9
LOC106780803, TNXB 0 0 6 1 1 0 7
GPNMB 6 0 0 0 0 0 6
OSMR 5 0 1 0 0 0 6
RIN2 3 2 0 1 0 0 6
AEBP1 5 1 0 0 0 0 5
HCCS 4 0 1 0 0 0 5
RBPJ 2 3 0 0 0 0 5
C1S 2 2 2 0 0 0 4
COX7B 3 0 1 0 0 0 4
HRAS 0 0 4 0 0 0 4
KIT 4 0 0 0 0 0 4
PDGFB 1 0 1 1 2 0 4
DNASE1L1, EMD, FLNA, RPL10, TAZ 0 0 3 0 0 0 3
NDUFB11 2 0 1 0 0 0 3
ATP6V1A 2 0 0 0 0 0 2
ATP6V1E1 2 0 0 0 0 0 2
C9orf163, CAMSAP1, CARD9, DNLZ, ENTR1, GPSM1, INPP5E, KCNT1, LHX3, NACC2, NOTCH1, PMPCA, QSOX2, SEC16A, SNAPC4, TMEM250, UBAC1 1 0 1 0 0 0 2
COL3A1, MIR3606 2 0 0 0 0 0 2
EMD, FLNA 0 0 2 0 0 0 2
FBN2 0 0 2 0 0 0 2
FH 0 2 0 0 0 0 2
MFN2, PLOD1 0 0 0 0 2 0 2
MIR4673, NOTCH1 0 0 1 1 0 0 2
​intergenic 0 0 1 0 0 0 1
ABCC1, ABCC6, CEP20, LOC112340382, LOC113939949, MYH11, NDE1 1 0 0 0 0 0 1
ABCC1, ABCC6, CEP20, LOC112340382, MYH11 1 0 0 0 0 0 1
ABCC2 0 1 0 0 0 0 1
ABO, ADAMTS13, ADAMTSL2, AK8, BARHL1, BRD3, C9orf116, C9orf62, CACFD1, CEL, CFAP77, COL5A1, DBH, DDX31, FAM163B, FCN1, FCN2, GBGT1, GFI1B, GLT6D1, GTF3C4, GTF3C5, KCNT1, LCN1, LCN9, MED22, MED27, MRPS2, MYMK, NTNG2, OBP2A, OBP2B, OLFM1, PAEP, POMT1, PPP1R26, RALGDS, RAPGEF1, REXO4, RNU6ATAC, RPL7A, RXRA, SARDH, SETX, SLC2A6, SOHLH1, SPACA9, STKLD1, SURF1, SURF2, SURF4, SURF6, TSC1, TTF1, UCK1, VAV2, WDR5 0 0 1 0 0 0 1
ACAP3, AGRN, B3GALT6, C1QTNF12, C1orf159, INTS11, ISG15, MIR200A, MIR200B, MIR429, PUSL1, RNF223, SCNN1D, SDF4, TNFRSF18, TNFRSF4, TTLL10, UBE2J2 0 0 1 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
ATP6V0A2, TCTN2 0 0 0 0 1 0 1
B3GALT6, SDF4, TNFRSF4 0 0 1 0 0 0 1
B4GAT1, BANF1, BRMS1, C11orf68, CATSPER1, CCDC85B, CD248, CNIH2, CST6, CTSW, DRAP1, EFEMP2, EIF1AD, FIBP, FOSL1, GAL3ST3, KLC2, LOC111413017, LOC112081411, LOC116216147, LOC116216148, MUS81, PACS1, RAB1B, RIN1, SART1, SF3B2, SNORD13F, TMEM151A, TSGA10IP, YIF1A 0 0 1 0 0 0 1
BMS1 1 0 0 0 0 0 1
BRAF 0 0 1 0 0 0 1
CASD1, COL1A2, SGCE 0 0 1 0 0 0 1
COL3A1, COL5A2, MIR1245A, MIR1245B, MIR3129, MIR3606, SLC40A1, WDR75 1 0 0 0 0 0 1
COL3A1, COL5A2, SLC40A1, WDR75 1 0 0 0 0 0 1
FAM120AOS 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
LOC112577486, PLOD1 0 0 0 0 1 0 1
MECP2 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
XYLT2 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 105
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 303 171 2524 953 556 0 4507
Illumina Clinical Services Laboratory,Illumina 3 1 1391 390 749 0 2534
OMIM 418 0 0 0 0 0 418
Collagen Diagnostic Laboratory,University of Washington 411 0 0 0 0 0 411
PXE International 347 4 0 0 19 0 370
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 1 1 15 19 86 0 122
Fulgent Genetics,Fulgent Genetics 31 2 82 1 0 0 116
Counsyl 0 46 26 6 0 0 78
GeneReviews 63 0 0 0 9 0 72
Mendelics 7 10 6 11 23 0 57
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
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 1 47 2 0 0 50
GenomeConnect, ClinGen 0 0 0 0 0 46 46
Centre of Medical Genetics, University of Antwerp 25 6 14 0 0 0 44
Claritas Genomics 8 15 6 0 0 0 29
Center for Human Genetics, Inc,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
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine 11 11 1 0 0 0 23
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center 0 0 1 12 8 0 21
Genomic Research Center, Shahid Beheshti University of Medical Sciences 4 1 14 1 0 0 20
Baylor Genetics 10 5 3 1 0 0 19
Division of Human Genetics,Medical University Innsbruck 16 0 0 0 0 0 16
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 1 7 5 0 0 0 13
Integrated Genetics/Laboratory Corporation of America 6 6 0 0 0 0 12
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
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
Centre for Mendelian Genomics,University Medical Centre Ljubljana 2 4 3 0 0 0 9
Johns Hopkins Genomics,Johns Hopkins University 5 0 3 0 1 0 9
Reproductive Health Research and Development,BGI Genomics 1 1 2 4 1 0 9
Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare 3 3 2 0 0 0 8
CSER _CC_NCGL, University of Washington 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
Institute of Human Genetics,Klinikum rechts der Isar 4 1 0 0 0 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
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 2 3 0 0 0 0 5
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 3 2 0 0 0 0 5
Sharon lab,Hadassah-Hebrew University Medical Center 2 3 0 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
Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn 5 0 0 0 0 0 5
Natera Inc 0 0 3 0 2 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
Broad Institute Rare Disease Group,Broad Institute 1 2 1 0 0 0 4
Genomic Medicine Lab, University of California San Francisco 2 0 2 0 0 0 4
Institute for Genomic Medicine (IGM) Clinical Laboratory,Nationwide Children's Hospital 1 2 1 0 0 0 4
Genetic Services Laboratory, University of Chicago 1 1 1 0 0 0 3
Institute of Human Genetics,Cologne University 0 1 2 0 0 0 3
Developmental Genetics Unit,King Faisal Specialist Hospital & Research Centre 0 3 0 0 0 0 3
Service de Génétique Moléculaire,Hôpital Robert Debré 0 0 3 0 0 0 3
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 1 1 1 0 0 0 3
Hadassah Hebrew University Medical Center 0 3 0 0 0 0 3
Undiagnosed Diseases Network,NIH 1 1 1 0 0 0 3
Myriad Women's Health, Inc. 2 1 0 0 0 0 3
Institute for Human Genetics,University Clinic Freiburg 1 0 1 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
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
NIHR Bioresource Rare Diseases, University of Cambridge 0 2 0 0 0 0 2
Pediatrics Genetics,Post Graduate Institute of Medical Education and Research 1 1 0 0 0 0 2
Department of Periodontology,Nanjing Stomatological Hospital, Medical School of Nanjing University 0 2 0 0 0 0 2
Institute of Human Genetics,University of Goettingen 1 0 0 0 0 0 1
Hehr Laboratory,Center for Human Genetics - University of Regensburg 0 1 0 0 0 0 1
Centogene AG - the Rare Disease Company 1 0 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
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
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 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
Laboratory of Research in Genomics, Genetics and Bioinformatics,Hospital Infantil de Mexico Federico Gomez 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
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
Genetic Endocrinology Unit / 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 Genetique Moleculaire,Centre Hospitalier Universitaire de Bordeaux 1 0 0 0 0 0 1
Génétique des Maladies du Développement, Hospices Civils de Lyon 0 0 1 0 0 0 1
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 1 0 0 0 0 0 1
Kids Research, The Children's Hospital at Westmead 1 0 0 0 0 0 1
Division of Medical Genetics at University of Versailles, Paris Saclay University 0 1 0 0 0 0 1
Myelin Disorders Clinic,Children's Medical Center 0 1 0 0 0 0 1
University of Washington Department of Laboratory Medicine, University of Washington 0 0 0 0 1 0 1
Molecular Genetics Center,Sichuan Provincial People's Hospital 0 1 0 0 0 0 1
Clinical Genetics,CHU Rennes 1 0 0 0 0 0 1

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