ClinVar Miner

Variants studied for autosomal recessive limb-girdle muscular dystrophy type 2J

Included ClinVar conditions (13):
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
197 2113 7034 11610 1054 18 21003

Gene and significance breakdown #

Total genes and gene combinations: 28
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
TTN 181 1872 6238 10252 919 18 18580
LOC101927055, TTN 1 4 77 148 17 0 239
LOC126806422, TTN 1 38 46 120 9 0 201
LOC126806423, TTN 3 30 46 105 9 0 183
LOC126806425, TTN 1 35 47 95 11 0 177
LOC126806424, TTN 2 29 46 90 8 0 166
LOC126806430, TTN 0 1 46 112 16 0 162
LOC126806421, TTN 1 25 41 86 7 0 156
LOC126806431, TTN 0 1 50 101 9 0 153
LOC126806426, TTN 0 21 34 81 3 0 136
LOC129935183, TTN 2 11 83 29 6 0 127
LOC126806420, TTN 0 27 28 68 9 0 126
LOC126806427, TTN 2 3 46 74 11 0 126
LOC126806433, TTN 0 3 46 75 3 0 124
LOC126806428, TTN 0 1 35 85 6 0 120
LOC126806429, TTN 0 0 30 55 8 0 85
LOC129935182, TTN 2 7 44 13 0 0 64
LOC129935184, TTN 1 0 20 10 1 0 29
LOC129935185, TTN 0 1 13 4 1 0 19
LOC126806432, TTN 0 0 10 1 1 0 12
LOC129935186, TTN 0 2 3 6 0 0 11
CCDC141, FKBP7, PJVK, PLEKHA3, PRKRA, TTN 0 0 1 0 0 0 1
FKBP7, PJVK, PLEKHA3, PRKRA, TTN 0 1 0 0 0 0 1
LOC101927055, LOC126806428, LOC126806429, LOC126806430, LOC126806431, LOC126806432, LOC126806433, TTN 0 0 1 0 0 0 1
LOC126806420, LOC126806421, LOC129935182, LOC129935183, LOC129935184, LOC129935185, LOC129935186, TTN 0 1 0 0 0 0 1
LOC126806425, LOC126806426, LOC126806427, TTN 0 0 1 0 0 0 1
LOC126806428, LOC126806429, LOC126806430, LOC126806431, TTN 0 0 1 0 0 0 1
LOC129388955, TTN 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 45
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 170 2061 5350 11393 947 0 19921
Illumina Laboratory Services, Illumina 0 0 1417 180 176 0 1773
Fulgent Genetics, Fulgent Genetics 15 55 1057 140 18 0 1285
Genome-Nilou Lab 0 0 0 0 635 0 635
Baylor Genetics 6 6 37 0 0 0 49
Broad Institute Rare Disease Group, Broad Institute 9 5 6 0 0 0 20
Phosphorus, Inc. 0 0 10 0 2 0 12
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 2 6 0 0 0 0 8
Genomic Research Center, Shahid Beheshti University of Medical Sciences 1 0 7 0 0 0 8
GenomeConnect, ClinGen 0 0 0 0 0 8 8
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 8 8
Center of Excellence for Medical Genomics, Chulalongkorn University 2 0 4 0 0 0 6
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 0 5 0 0 0 5
OMIM 4 0 0 0 0 0 4
Division of Human Genetics, Children's Hospital of Philadelphia 0 1 3 0 0 0 4
NeuroMeGen, Hospital Clinico Santiago de Compostela 0 4 0 0 0 0 4
3billion 3 0 1 0 0 0 4
Undiagnosed Diseases Network, NIH 1 1 0 1 0 0 3
Johns Hopkins Genomics, Johns Hopkins University 0 2 1 0 0 0 3
Suma Genomics 0 0 3 0 0 0 3
Neuberg Supratech Reference Laboratories Pvt Ltd, Neuberg Centre for Genomic Medicine 0 3 0 0 0 0 3
Institute of Human Genetics, Cologne University 1 1 0 0 0 0 2
MGZ Medical Genetics Center 1 1 0 0 0 0 2
Mayo Clinic Laboratories, Mayo Clinic 0 0 2 0 0 0 2
Clinical Genomics Laboratory, Washington University in St. Louis 0 1 1 0 0 0 2
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 2 0 0 0 0 0 2
Genetics and Personalized Medicine Clinic, Tartu University Hospital 1 1 0 0 0 0 2
Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin 0 0 2 0 0 0 2
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 2 0 0 0 0 0 2
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 1 1 0 0 0 0 2
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 0 1 1 0 0 0 2
Molecular Genetics, Royal Melbourne Hospital 0 1 1 0 0 0 2
GenomeConnect - Brain Gene Registry 0 0 0 0 0 2 2
Arcensus 0 0 2 0 0 0 2
Pediatric/Medical Genetics, Ministry of Health, Qatif Central Hospital 0 0 2 0 0 0 2
Medical Genetics Center, Maternal and Child Health Hospital of Hubei Province 2 0 0 0 0 0 2
Intergen, Intergen Genetics and Rare Diseases Diagnosis Center 0 0 1 0 0 0 1
Center for Genetic Medicine Research, Children's National Medical Center 0 1 0 0 0 0 1
UCLA Clinical Genomics Center, UCLA 0 1 0 0 0 0 1
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 0 1 0 0 0 0 1
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center 0 0 1 0 0 0 1
Daryl Scott Lab, Baylor College of Medicine 0 0 1 0 0 0 1
Laboratory of Functional Genomics, Research Centre for Medical Genetics 0 1 0 0 0 0 1
Institute of Human Genetics, Heidelberg University 1 0 0 0 0 0 1
CUBI - Core Unit Bioinformatics, Berlin Institute of Health 0 0 1 0 0 0 1

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