ClinVar Miner

Variants studied for PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutation

Included ClinVar conditions (2):
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
79 42 99 163 12 5 388

Gene and significance breakdown #

Total genes and gene combinations: 6
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
PURA 69 39 90 153 9 5 354
LOC129994826, PURA 8 3 7 10 3 0 30
ANKHD1, ANKHD1-EIF4EBP3, APBB3, BRD8, CD14, CDC23, CDC25C, CTNNA1, CXXC5, CYSTM1, DIAPH1, DNAJC18, DND1, ECSCR, EGR1, EIF4EBP3, ETF1, FAM13B, FAM53C, GFRA3, HARS1, HARS2, HBEGF, HNRNPA0, HSPA9, IGIP, IK, KDM3B, KIF20A, KLHL3, LRRTM2, MATR3, MYOT, MZB1, NDUFA2, NME5, NRG2, PAIP2, PCDHA1, PCDHA10, PCDHA11, PCDHA12, PCDHA13, PCDHA2, PCDHA3, PCDHA4, PCDHA5, PCDHA6, PCDHA7, PCDHA8, PCDHA9, PCDHA@, PCDHAC1, PCDHAC2, PCDHB1, PCDHB10, PCDHB11, PCDHB12, PCDHB13, PCDHB14, PCDHB15, PCDHB16, PCDHB2, PCDHB3, PCDHB4, PCDHB5, PCDHB6, PCDHB7, PCDHB8, PCDHB9, PCDHB@, PCDHGA1, PCDHGA10, PCDHGA11, PCDHGA12, PCDHGA2, PCDHGA3, PCDHGA4, PCDHGA5, PCDHGA6, PCDHGA7, PCDHGA8, PCDHGA9, PCDHGB1, PCDHGB2, PCDHGB3, PCDHGB4, PCDHGB5, PCDHGB6, PCDHGB7, PCDHGC3, PCDHGC4, PCDHGC5, PFDN1, PKD2L2, PROB1, PSD2, PURA, REEP2, SIL1, SLC23A1, SLC25A2, SLC35A4, SLC4A9, SNHG4, SPATA24, SPOCK1, SRA1, STING1, TAF7, TMCO6, UBE2D2, VTRNA1-1, VTRNA1-2, VTRNA1-3, WDR55, WNT8A, ZMAT2 0 0 1 0 0 0 1
ANKHD1, ANKHD1-EIF4EBP3, APBB3, BRD8, CD14, CDC23, CDC25C, CTNNA1, CXXC5, CYSTM1, DNAJC18, DND1, ECSCR, EGR1, EIF4EBP3, ETF1, FAM13B, FAM53C, GFRA3, HARS1, HARS2, HBEGF, HNRNPA0, HSPA9, IGIP, IK, KDM3B, KIF20A, KLHL3, LRRTM2, MATR3, MYOT, MZB1, NDUFA2, NME5, NRG2, PAIP2, PFDN1, PKD2L2, PROB1, PSD2, PURA, REEP2, SIL1, SLC23A1, SLC35A4, SLC4A9, SNHG4, SPATA24, SRA1, STING1, TMCO6, UBE2D2, WDR55, WNT8A 0 0 1 0 0 0 1
ANKHD1, ANKHD1-EIF4EBP3, APBB3, CD14, CYSTM1, DND1, EIF4EBP3, HARS1, HARS2, HBEGF, IGIP, IK, NDUFA2, PCDHA1, PCDHA10, PCDHA11, PCDHA12, PCDHA13, PCDHA2, PCDHA3, PCDHA4, PCDHA5, PCDHA6, PCDHA7, PCDHA8, PCDHA9, PCDHA@, PCDHAC1, PCDHAC2, PCDHB1, PCDHB2, PCDHB3, PCDHB4, PCDHB5, PCDHB@, PFDN1, PURA, SLC35A4, SLC4A9, SRA1, TMCO6, VTRNA1-1, VTRNA1-2, VTRNA1-3, WDR55, ZMAT2 1 0 0 0 0 0 1
LOC129994825, PURA 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 46
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 41 4 95 163 12 0 315
OMIM 10 0 0 0 0 0 10
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 8 0 0 0 0 0 8
Mendelics 5 2 0 0 0 0 7
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 3 4 0 0 0 0 7
Institute of Human Genetics, University of Leipzig Medical Center 6 1 0 0 0 0 7
3billion 3 2 1 0 0 0 6
GeneReviews 0 0 0 0 0 5 5
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 3 2 0 0 0 0 5
Baylor Genetics 2 2 0 0 0 0 4
Revvity Omics, Revvity 2 2 0 0 0 0 4
MGZ Medical Genetics Center 0 4 0 0 0 0 4
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 3 1 0 0 0 0 4
Centogene AG - the Rare Disease Company 1 2 0 0 0 0 3
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 1 2 0 0 0 0 3
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 1 2 0 0 0 0 3
Fulgent Genetics, Fulgent Genetics 1 0 1 0 0 0 2
Undiagnosed Diseases Network, NIH 0 2 0 0 0 0 2
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 1 0 0 0 0 0 1
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet 0 1 0 0 0 0 1
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 1 0 0 0 0 0 1
Molecular Genetics Laboratory, BC Children's and BC Women's Hospitals 0 1 0 0 0 0 1
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 1 0 0 0 0 0 1
Illumina Laboratory Services, Illumina 0 1 0 0 0 0 1
Institute for Human Genetics and Genomic Medicine, Uniklinik RWTH Aachen 0 1 0 0 0 0 1
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille 1 0 0 0 0 0 1
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues 0 1 0 0 0 0 1
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 0 1 0 0 0 1
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 1 0 0 0 0 0 1
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 1 0 0 0 0 0 1
Génétique des Maladies du Développement, Hospices Civils de Lyon 1 0 0 0 0 0 1
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 0 1 0 0 0 0 1
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 0 1 0 0 0 0 1
Cavalleri Lab, Royal College of Surgeons in Ireland 0 1 0 0 0 0 1
Institute of Human Genetics, Heidelberg University 0 0 1 0 0 0 1
Department of Genetics, Rouen University Hospital, Normandy Center for Genomic and Personalized Medicine 1 0 0 0 0 0 1
Clinical Genomics Program, Stanford Medicine 1 0 0 0 0 0 1
Division of Biology and Genetics, University of Brescia 1 0 0 0 0 0 1
Department of Laboratory Medicine, Yonsei University College of Medicine 0 1 0 0 0 0 1
Molecular Genetics Lab, CHRU Brest 1 0 0 0 0 0 1
Lifecell International Pvt. Ltd 1 0 0 0 0 0 1
Clinical Genetics Department, Johns Hopkins All Children's Hospital 1 0 0 0 0 0 1
Genomics England Pilot Project, Genomics England 0 1 0 0 0 0 1
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 1 0 0 0 0 1
Imagene.me medical diagnostic laboratory, IMAGENE.ME SA 1 0 0 0 0 0 1
Laboratory Cellgenetics, GMDL Cellgenetics 0 1 0 0 0 0 1

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