ClinVar Miner

Variants studied for acromesomelic dysplasia

Included ClinVar conditions (14):
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
69 29 419 257 42 2 784

Gene and significance breakdown #

Total genes and gene combinations: 9
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
NPR2 38 18 243 134 14 2 422
BMPR1B 9 3 102 91 14 0 216
NPR2, SPAG8 9 4 45 23 1 0 78
GDF5 10 3 22 7 9 0 51
GDF5, LOC109461476 0 0 5 1 3 0 9
PRKG2 3 1 1 0 0 0 5
ANK2, LOC126807137 0 0 0 1 0 0 1
ANKRD18B, APTX, AQP3, AQP7, ARHGEF39, ARID3C, ATOSB, B4GALT1, BAG1, CA9, CCDC107, CCIN, CCL19, CCL21, CCL27, CD72, CHMP5, CIMIP2B, CLTA, CNTFR, CREB3, DCAF12, DCTN3, DNAI1, DNAJA1, DNAJB5, ENHO, EXOSC3, FAM219A, FAM221B, FANCG, FBXO10, FRMPD1, GALT, GBA2, GLIPR2, GNE, GRHPR, HINT2, HRCT1, IL11RA, KIF24, MELK, MSMP, MYORG, NDUFB6, NFX1, NOL6, NPR2, NUDT2, OR13J1, OR2S2, PAX5, PHF24, PIGO, POLR1E, PRSS3, RECK, RGP1, RIGI, RMRP, RNF38, RPP25L, RUSC2, SIGMAR1, SIT1, SMU1, SPAG8, SPATA31F1, SPATA31G1, SPINK4, SPMIP6, STOML2, TAF1L, TESK1, TLN1, TMEM215, TMEM8B, TOMM5, TOPORS, TPM2, TRMT10B, UBAP1, UBAP2, UBE2R2, UNC13B, VCP, ZBTB5, ZCCHC7 0 0 1 0 0 0 1
ANKRD36 0 0 0 0 1 0 1

Submitter and significance breakdown #

Total submitters: 41
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 33 8 337 243 28 0 649
Illumina Laboratory Services, Illumina 0 0 57 12 16 0 85
OMIM 19 0 0 0 0 0 19
Hacettepe Genetic Diseases Diagnosis Center, Hacettepe University Faculty of Medicine 6 3 10 0 0 0 19
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 2 2 3 0 0 0 7
Laboratory of Inherited Metabolic Diseases, Research centre for medical genetics 2 2 2 0 0 0 6
Baylor Genetics 0 0 5 0 0 0 5
Fulgent Genetics, Fulgent Genetics 0 0 4 1 0 0 5
Department of Medical Genetics, Sanjay Gandhi Post Graduate Institute of Medical Sciences 5 0 0 0 0 0 5
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 1 3 0 0 0 0 4
Juno Genomics, Hangzhou Juno Genomics, Inc 0 2 2 0 0 0 4
3billion, Medical Genetics 1 2 1 0 0 0 4
Dept of Molecular Biology and Genetics, Bogazici University 1 0 0 1 1 0 3
Neuberg Centre For Genomic Medicine, NCGM 0 0 3 0 0 0 3
Institute of Human Genetics, Cologne University 0 2 0 0 0 0 2
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 0 0 2 0 0 0 2
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 0 2 0 0 0 2
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet 0 0 1 0 0 0 1
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 1 0 0 0 0 0 1
Mendelics 0 0 1 0 0 0 1
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 0 0 1 0 0 0 1
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 1 0 0 0 0 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 1 0 0 0 1
University of Washington Center for Mendelian Genomics, University of Washington 0 1 0 0 0 0 1
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 0 1 0 0 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 1 1
Human Molecular Genetics and Metabolic Disorders, Pakistan Institute for Engineering and Applied Science (PIEAS) 1 0 0 0 0 0 1
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 1 0 0 0 1
Genetic Endocrinology Unit / Unidade de Endocrinologia Genetica - LIM25, Universidade de Sao Paulo (USP) 1 0 0 0 0 0 1
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 0 0 1 0 0 0 1
Department Of Genetics, Sultan Qaboos University Hospital, Sultan Qaboos University 1 0 0 0 0 0 1
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 0 1 0 0 0 0 1
Genomic Medicine Lab, University of California San Francisco 0 0 1 0 0 0 1
Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality Hospital 0 1 0 0 0 0 1
Pediatrics Genetics, Post Graduate Institute of Medical Education and Research 0 1 0 0 0 0 1
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 1 1
Palindrome, Gene Kavoshgaran Aria 1 0 0 0 0 0 1
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 0 1 0 0 0 1
Clinical Laboratory Sciences Program (CLSP), King Saud bin Abdulaziz University for Health Sciences (KSAU-HS) 0 1 0 0 0 0 1
Acualanaylab, Acibadem University 0 1 0 0 0 0 1
Umrani?ye Training and Research Hospital 0 1 0 0 0 0 1

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