ClinVar Miner

Variants studied for PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
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Gene type:
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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
41 18 50 60 2 168

Gene and significance breakdown #

Total genes and gene combinations: 2
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
PURA 41 18 49 60 2 167
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 1

Submitter and significance breakdown #

Total submitters: 24
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Invitae 23 1 49 60 2 135
OMIM 10 0 0 0 0 10
GeneReviews 5 0 0 0 0 5
Institute of Human Genetics, Klinikum rechts der Isar 3 2 0 0 0 5
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 1 4 0 0 0 5
Centogene AG - the Rare Disease Company 1 1 0 0 0 2
Mendelics 0 2 0 0 0 2
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 0 2 0 0 0 2
Undiagnosed Diseases Network,NIH 0 2 0 0 0 2
Baylor Genetics 0 1 0 0 0 1
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 1 0 0 0 0 1
Molecular Genetics Laboratory,BC Children's and BC Women's Hospitals 0 1 0 0 0 1
Integrated Genetics/Laboratory Corporation of America 1 0 0 0 0 1
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille 1 0 0 0 0 1
Center for Human Genetics and Laboratory Diagnostics, Dr. Klein, Dr. Rost and Colleagues 0 1 0 0 0 1
Centre for Mendelian Genomics,University Medical Centre Ljubljana 0 0 1 0 0 1
Kasturba Medical College, Manipal University 1 0 0 0 0 1
Génétique des Maladies du Développement, Hospices Civils de Lyon 1 0 0 0 0 1
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 0 1 0 0 0 1
Cavalleri Lab, Royal College of Surgeons in Ireland 0 1 0 0 0 1
Department of Genetics, Rouen University Hospital, Normandy Center for Genomic and Personalized Medicine 1 0 0 0 0 1
Clinical Genomics Program, Stanford Medicine 1 0 0 0 0 1
Division of Biology and Genetics,University of Brescia 1 0 0 0 0 1
Clinical Genetics Department,Johns Hopkins All Children's Hospital 1 0 0 0 0 1

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