ClinVar Miner

Variants studied for acrocephalopolysyndactyly

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
93 46 515 623 116 1355

Gene and significance breakdown #

Total genes and gene combinations: 10
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
FGFR1 31 19 198 249 34 518
MEGF8 13 10 218 213 66 517
RAB23 19 8 40 132 9 189
FGFR2 29 9 28 21 1 85
BAG2, RAB23 0 0 27 5 6 38
LOC130064579, MEGF8 0 0 2 1 0 3
ADAM9, ADGRA2, ADRB3, ASH2L, BAG4, BRF2, DDHD2, EIF4EBP1, ERLIN2, FGFR1, GOT1L1, HTRA4, LETM2, LINC03042, LSM1, NSD3, PLEKHA2, PLPBP, PLPP5, RAB11FIP1, STAR, TACC1, TM2D2 1 0 1 0 0 2
ACTMAP, AKT2, ARHGEF1, ATP1A3, AXL, B3GNT8, B9D2, BCKDHA, BLVRB, C19orf47, CCDC97, CCNP, CD79A, CEACAM21, CEACAM3, CEACAM4, CEACAM5, CEACAM6, CEACAM7, CIC, CLC, CNFN, COQ8B, CYP2A13, CYP2A6, CYP2A7, CYP2B6, CYP2F1, CYP2S1, DEDD2, DLL3, DMAC2, DMRTC2, DYRK1B, EGLN2, EID2, EID2B, ERF, ERICH4, EXOSC5, FBL, FCGBP, GRIK5, GSK3A, HIPK4, HNRNPUL1, ITPKC, LEUTX, LGALS13, LGALS14, LGALS16, LIPE, LTBP4, LYPD4, MAP3K10, MEGF8, MIA, NUMBL, PAFAH1B3, PLD3, PLEKHG2, POU2F2, PRR19, PRX, PSMC4, RAB4B, RABAC1, RPS16, RPS19, SELENOV, SERTAD1, SERTAD3, SHKBP1, SNRPA, SPTBN4, SUPT5H, TGFB1, TIMM50, TMEM145, TMEM91, TTC9B, ZNF526, ZNF546, ZNF574, ZNF780A, ZNF780B 0 0 1 0 0 1
FGFR1, LOC102723716 0 0 0 1 0 1
MEGF8, MIR8077 0 0 0 1 0 1

Submitter and significance breakdown #

Total submitters: 40
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Invitae 53 23 399 582 105 1162
Fulgent Genetics, Fulgent Genetics 11 7 68 43 3 132
Illumina Laboratory Services, Illumina 0 0 53 13 7 73
OMIM 22 0 0 0 0 22
Natera, Inc. 2 0 5 10 3 20
Baylor Genetics 3 0 13 0 0 16
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia 12 4 0 0 0 16
Genome-Nilou Lab 0 1 0 2 9 12
Revvity Omics, Revvity 1 0 6 0 0 7
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 1 5 0 0 0 6
3billion 4 0 0 0 0 4
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 1 2 0 1 0 4
Neuberg Supratech Reference Laboratories Pvt Ltd, Neuberg Centre for Genomic Medicine 2 0 2 0 0 4
Genetics and Molecular Pathology, SA Pathology 2 1 0 0 0 3
Seattle Children's Hospital Molecular Genetics Laboratory, Seattle Children's Hospital 2 1 0 0 0 3
Clinical Genomics Laboratory, Washington University in St. Louis 0 0 2 0 0 2
Duke University Health System Sequencing Clinic, Duke University Health System 0 0 2 0 0 2
Geisinger Autism and Developmental Medicine Institute, Geisinger Health System 0 0 2 0 0 2
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 0 1 0 0 0 1
Genetic Services Laboratory, University of Chicago 1 0 0 0 0 1
MGZ Medical Genetics Center 0 0 1 0 0 1
ClinVar Staff, National Center for Biotechnology Information (NCBI) 1 0 0 0 0 1
Department of Medical Genetics, Oslo University Hospital 1 0 0 0 0 1
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 1 0 0 0 0 1
Baylor-Hopkins Center for Mendelian Genomics, Johns Hopkins University School of Medicine 0 0 1 0 0 1
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare 1 0 0 0 0 1
Database of Curated Mutations (DoCM) 0 1 0 0 0 1
Medical Molecular Genetics Department, National Research Center 1 0 0 0 0 1
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 1 0 0 0 1
Human Genetics Unit, University Of Colombo 1 0 0 0 0 1
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 1 0 0 0 0 1
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 1 0 0 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 0 0 1 0 0 1
Johns Hopkins Genomics, Johns Hopkins University 1 0 0 0 0 1
Clinical Genetics Laboratory, Federal University of Health Sciences of Porto Alegre 1 0 0 0 0 1
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 0 0 1 0 0 1
Clinical Genomics Program, Stanford Medicine 0 1 0 0 0 1
NYU Undiagnosed Diseases Program, NYU School of Medicine 0 1 0 0 0 1
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein 1 0 0 0 0 1
Institute Of Reproduction And Development, Obstetrics and Gynecology Hospital, Fudan University 1 0 0 0 0 1

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