ClinVar Miner

Variants studied for Unverricht-Lundborg syndrome

Included ClinVar conditions (3):
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
83 20 1009 580 87 17 1765

Gene and significance breakdown #

Total genes and gene combinations: 25
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
PRICKLE1 2 0 251 129 15 2 394
SCARB2 16 4 175 160 11 0 366
GOSR2, LRRC37A2 6 1 106 66 12 0 188
EPM2A 18 2 95 62 7 0 184
EPM2A, EPM2A-DT, LOC129997381 13 2 80 58 3 0 156
PRICKLE2 0 0 116 12 25 0 153
CSTB 9 4 51 32 4 11 98
GOSR2, LOC126862578, LRRC37A2 8 2 46 20 4 0 78
LOC126861509, PRICKLE1 0 0 50 23 2 1 75
CSTB, LOC130066788 2 3 20 15 2 2 39
LOC130007700, PRICKLE1 1 1 7 3 0 1 11
LOC122965327, PRICKLE2 0 0 4 0 1 0 5
KCTD7 0 0 2 0 1 0 3
AGPAT3, CSTB, GATD3, HSF2BP, PDXK, PWP2, RRP1, RRP1B, SIK1, TRAPPC10 1 0 1 0 0 0 2
CSTB, LOC109029533, LOC130066788 2 0 0 0 0 0 2
GOSR2 1 0 1 0 0 0 2
GOSR2, WNT3, WNT9B 1 0 1 0 0 0 2
ABCG1, ADARB1, AGPAT3, AIRE, C21orf58, C2CD2, CBS, CFAP410, COL18A1, COL6A1, COL6A2, CRYAA, CSTB, DNMT3L, FTCD, GATD3, HSF2BP, ICOSLG, ITGB2, KRTAP10-1, KRTAP10-10, KRTAP10-11, KRTAP10-12, KRTAP10-2, KRTAP10-3, KRTAP10-4, KRTAP10-5, KRTAP10-6, KRTAP10-7, KRTAP10-8, KRTAP10-9, KRTAP12-1, KRTAP12-2, KRTAP12-3, KRTAP12-4, LINC00163, LINC00315, LINC00334, LRRC3, LSS, MCM3AP, NDUFV3, PCBP3, PCNT, PDE9A, PDXK, PFKL, PKNOX1, POFUT2, PRDM15, PTTG1IP, PWP2, RIPK4, RRP1, RRP1B, RSPH1, SIK1, SLC19A1, SLC37A1, SLX9, SPATC1L, SUMO3, TFF1, TFF2, TFF3, TMPRSS3, TRAPPC10, TRPM2, TSPEAR, U2AF1, UBASH3A, UBE2G2, UMODL1, WDR4, YBEY, ZBTB21 1 0 0 0 0 0 1
ART3, CCDC158, CDKL2, CXCL10, CXCL11, CXCL9, FAM47E, FAM47E-STBD1, G3BP2, NAAA, NUP54, ODAPH, PPEF2, SCARB2, SDAD1, SHROOM3, STBD1, USO1 1 0 0 0 0 0 1
CSTB, HSF2BP, PDXK, RRP1B, SIK1 0 0 1 0 0 0 1
LOC126861509, LOC130007700, LOC130007701, PRICKLE1 0 0 1 0 0 0 1
LOC129390441, LOC130007703, LOC130007704, LOC130007705, LOC130007706, LOC130007707, PRICKLE1 0 1 0 0 0 0 1
LOC129992690, SCARB2 0 0 1 0 0 0 1
LOC129992692, LOC129992693, SCARB2 0 0 1 0 0 0 1
TBC1D24 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 29
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 76 11 832 554 48 0 1521
Illumina Laboratory Services, Illumina 2 0 176 24 40 0 242
GeneReviews 1 0 0 0 0 16 17
OMIM 9 0 0 0 0 0 9
Revvity Omics, Revvity 3 1 5 0 0 0 9
Fulgent Genetics, Fulgent Genetics 1 0 5 2 1 0 9
Juha Muilu Group; Institute for Molecular Medicine Finland (FIMM) 1 5 0 0 0 0 6
New York Genome Center 0 0 6 0 0 0 6
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 3 0 0 0 3
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 2 0 0 0 0 0 2
Knight Diagnostic Laboratories, Oregon Health and Sciences University 0 1 1 0 0 0 2
Al Jalila Children's Genomics Center, Al Jalila Childrens Speciality Hospital 0 1 1 0 0 0 2
GenomeConnect - Brain Gene Registry 0 0 0 0 0 2 2
Baylor Genetics 0 0 1 0 0 0 1
Genetic Services Laboratory, University of Chicago 1 0 0 0 0 0 1
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 0 0 0 1 0 1
Mendelics 0 0 1 0 0 0 1
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 1 0 0 0 0 0 1
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 0 1 0 0 0 0 1
Division of Medical Genetics; Sainte-Justine Hospital 1 0 0 0 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 0 0 1 0 0 0 1
TIDEX, University of British Columbia 0 1 0 0 0 0 1
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 0 1 0 0 1
Department Of Genetics, Sultan Qaboos University Hospital, Sultan Qaboos University 1 0 0 0 0 0 1
Section for Clinical Neurogenetics, University of Tübingen 0 1 0 0 0 0 1
Genome-Nilou Lab 0 0 0 0 1 0 1
Lifecell International Pvt. Ltd 1 0 0 0 0 0 1
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 1 0 0 0 0 0 1
Neuberg Centre For Genomic Medicine, NCGM 0 1 0 0 0 0 1

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