ClinVar Miner

Variants studied for familial periodic paralysis

Included ClinVar conditions (19):
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 risk factor not provided total
204 97 1894 1777 392 7 47 4080

Gene and significance breakdown #

Total genes and gene combinations: 15
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign risk factor not provided total
CACNA1S 73 45 730 1056 206 3 9 1913
GH-LCR, SCN4A 58 24 591 367 84 0 17 1072
SCN4A 28 11 301 235 55 0 10 597
KCNJ2 43 17 256 119 46 0 9 473
CACNA1S, LOC101929305 0 0 6 0 0 0 0 6
KCNJ18 0 0 2 0 0 4 0 6
KCNJ2, LOC130061539 0 0 2 0 1 0 0 3
CLCN1, LOC123956257 2 0 0 0 0 0 0 2
KCNJ5 0 0 0 0 0 0 2 2
ADIPOR1, ADORA1, ARL8A, ASCL5, ATP2B4, AVPR1B, BTG2, C1orf116, C4BPA, C4BPB, CACNA1S, CAMSAP2, CD34, CD46, CD55, CDK18, CHI3L1, CHIT1, CNTN2, CR1, CR1L, CR2, CSRP1, CTSE, CYB5R1, DDX59, DSTYK, DYRK3, EIF2D, ELF3, ELK4, ETNK2, FAM72A, FCAMR, FCMR, FMOD, GOLT1A, GPR25, GPR37L1, IGFN1, IKBKE, IL10, IL19, IL20, IL24, INAVA, IPO9, KDM5B, KIF14, KIF21B, KISS1, KLHDC8A, KLHL12, LAD1, LAX1, LEMD1, LGR6, LMOD1, LRRN2, MAPKAPK2, MDM4, MFSD4A, MIR29B2CHG, MIR29C, MYBPH, MYOG, NAV1, NFASC, NUAK2, NUCKS1, OPTC, PCAT6, PFKFB2, PHLDA3, PIGR, PIK3C2B, PKP1, PLEKHA6, PLXNA2, PM20D1, PPFIA4, PPP1R12B, PPP1R15B, PRELP, PTPN7, RAB29, RABIF, RASSF5, RBBP5, REN, RHEX, RNPEP, SHISA4, SLC26A9, SLC41A1, SLC45A3, SNRPE, SOX13, SRGAP2, SYT2, TIMM17A, TMCC2, TMEM183A, TMEM81, TMEM9, TNNI1, TNNT2, UBE2T, YOD1, ZBED6, ZC3H11A 0 0 1 0 0 0 0 1
CD79B, SCN4A 0 0 1 0 0 0 0 1
CEP95, DDX5, ERN1, ICAM2, LRRC37A3, MILR1, PECAM1, POLG2, PRR29, SCN4A, SMURF2, TEX2 0 0 1 0 0 0 0 1
CLCN1 0 0 1 0 0 0 0 1
RANBP2 0 0 1 0 0 0 0 1
SLC25A26 0 0 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 61
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign risk factor not provided total
Labcorp Genetics (formerly Invitae), Labcorp 182 62 1568 1682 245 0 0 3739
Illumina Laboratory Services, Illumina 0 0 222 78 248 0 0 544
Fulgent Genetics, Fulgent Genetics 11 10 310 146 6 0 0 483
Genome-Nilou Lab 4 14 115 150 86 0 0 369
GeneReviews 1 0 0 0 0 0 41 42
OMIM 28 0 0 0 0 7 0 35
Department of Neurology and Geriatrics, Kagoshima University Graduate School of Medical and Dental Sciences 16 4 8 0 0 0 0 28
Athena Diagnostics 0 0 0 0 21 0 0 21
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues 5 2 6 0 0 0 0 13
Baylor Genetics 1 3 6 0 0 0 0 10
MGZ Medical Genetics Center 3 3 3 0 0 0 0 9
Centre for Mendelian Genomics, University Medical Centre Ljubljana 4 2 3 0 0 0 0 9
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 0 3 5 0 0 0 0 8
Institute of Human Genetics, University of Leipzig Medical Center 2 0 5 1 0 0 0 8
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 0 6 6
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 2 2 1 0 0 0 0 5
3billion 2 1 2 0 0 0 0 5
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 0 5 0 0 0 0 5
Genomic Research Center, Shahid Beheshti University of Medical Sciences 1 0 3 0 0 0 0 4
Molecular Genetics Laboratory, BC Children's and BC Women's Hospitals 2 0 0 1 0 0 0 3
Mendelics 0 1 1 1 0 0 0 3
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 2 0 1 0 0 0 0 3
Blueprint Genetics 2 1 0 0 0 0 0 3
Johns Hopkins Genomics, Johns Hopkins University 0 1 2 0 0 0 0 3
DASA 3 0 0 0 0 0 0 3
Neuberg Centre For Genomic Medicine, NCGM 1 0 2 0 0 0 0 3
Institute of Immunology and Genetics Kaiserslautern 0 1 2 0 0 0 0 3
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 0 2 0 0 0 0 0 2
Centogene AG - the Rare Disease Company 0 0 2 0 0 0 0 2
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 1 1 0 0 0 0 0 2
Human Genome Sequencing Center Clinical Lab, Baylor College of Medicine 0 0 2 0 0 0 0 2
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 2 0 0 0 0 0 0 2
CSER _CC_NCGL, University of Washington 0 0 2 0 0 0 0 2
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 2 0 0 0 0 0 0 2
Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin 0 0 2 0 0 0 0 2
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease, Montreal Heart Institute 1 1 0 0 0 0 0 2
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 1 0 1 0 0 0 0 2
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 1 0 1 0 0 0 0 2
Dr. med. U. Finckh, Human Genetics, Eurofins MVZ 0 0 2 0 0 0 0 2
MVZ Medizinische Genetik Mainz 0 0 2 0 0 0 0 2
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 1 0 0 0 0 0 0 1
Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital 1 0 0 0 0 0 0 1
Intergen, Intergen Genetics and Rare Diseases Diagnosis Center 0 0 1 0 0 0 0 1
Cardiovascular Biomedical Research Unit, Royal Brompton & Harefield NHS Foundation Trust 0 0 0 0 0 0 1 1
Petrovsky National Research Centre of Surgery, The Federal Agency for Scientific Organizations 1 0 0 0 0 0 0 1
Undiagnosed Diseases Network, NIH 0 1 0 0 0 0 0 1
Genetics and Molecular Pathology, SA Pathology 0 0 1 0 0 0 0 1
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 1 0 0 0 0 0 0 1
Clinical Genetics Laboratory, Region Ostergotland 1 0 0 0 0 0 0 1
SIB Swiss Institute of Bioinformatics 1 0 0 0 0 0 0 1
Department of Pathology and Laboratory Medicine, Sinai Health System 0 0 1 0 0 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 0 1 1
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 0 0 1 0 0 0 0 1
Genetics Laboratory, Department of Biology, Semnan University 1 0 0 0 0 0 0 1
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 0 0 1 0 0 0 0 1
Center of Excellence for Medical Genomics, Chulalongkorn University 0 1 0 0 0 0 0 1
Clinical Genomics Laboratory, Stanford Medicine 0 0 1 0 0 0 0 1
Rajaie Cardiovascular, Medical and Research Center, Iran University of Medical Sciences 0 1 0 0 0 0 0 1
Pars Genome Lab 0 0 0 1 0 0 0 1
Molecular Genetics, Royal Melbourne Hospital 0 0 1 0 0 0 0 1
Laboratory of Molecular Genetics, Research Center of Neurology 1 0 0 0 0 0 0 1

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