ClinVar Miner

Variants studied for juvenile amyotrophic lateral sclerosis

Included ClinVar conditions (10):
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
55 32 320 108 42 14 556

Gene and significance breakdown #

Total genes and gene combinations: 16
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
SPG11 23 9 160 32 10 13 239
ALS2 15 14 82 12 21 0 141
SIGMAR1 6 7 54 56 7 0 126
LOC130001681, SIGMAR1 5 0 15 8 3 0 31
ALS2, LOC129935419 0 0 2 0 1 0 3
FUS 2 0 0 0 0 0 2
LOC130056971, SPG11 0 0 2 0 0 0 2
LOC130056973, SPG11 0 0 2 0 0 0 2
PLEKHG5 1 1 0 0 0 0 2
SYNE1 2 0 0 0 0 0 2
ARHGEF39, ARID3C, ATOSB, CA9, CCDC107, CCIN, CCL19, CCL21, CCL27, CD72, CIMIP2B, CLTA, CNTFR, CREB3, DCTN3, DNAI1, DNAJB5, ENHO, FAM221B, FANCG, GALT, GBA2, GLIPR2, GNE, HINT2, HRCT1, IL11RA, MSMP, NPR2, OR13J1, OR2S2, PHF24, PIGO, RECK, RGP1, RMRP, RPP25L, RUSC2, SIGMAR1, SIT1, SPAG8, SPATA31F1, SPATA31G1, STOML2, TESK1, TLN1, TMEM8B, TPM2, UNC13B, VCP 0 0 1 0 0 0 1
ARID3C, CCL19, CCL21, CCL27, CNTFR, DCTN3, DNAI1, DNAJB5, ENHO, GALT, IL11RA, PHF24, RPP25L, SIGMAR1, SPATA31F1, SPATA31G1, VCP 0 0 1 0 0 0 1
ERLIN1 1 0 0 0 0 0 1
TRPM7 0 0 1 0 0 0 1
TRPV4 0 0 0 0 0 1 1
VRK1 0 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 33
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Genome-Nilou Lab 4 2 151 30 19 0 206
Labcorp Genetics (formerly Invitae), Labcorp 10 3 69 63 10 0 155
Illumina Laboratory Services, Illumina 0 0 79 9 17 0 105
Fulgent Genetics, Fulgent Genetics 10 4 15 7 2 0 38
Suna and Inan Kirac Foundation Neurodegeneration Research Laboratory, Koc University 11 7 1 0 0 0 19
Baylor Genetics 6 1 10 0 0 0 17
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 14 14
OMIM 11 0 1 0 0 0 12
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 1 1 1 0 0 0 3
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 2 1 0 0 0 0 3
Hadassah Hebrew University Medical Center 0 3 0 0 0 0 3
GeneReviews 2 0 0 0 0 0 2
NeuroMeGen, Hospital Clinico Santiago de Compostela 0 2 0 0 0 0 2
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 2 0 0 0 0 2
Institute of Human Genetics, University of Leipzig Medical Center 2 0 0 0 0 0 2
Juno Genomics, Hangzhou Juno Genomics, Inc 0 0 2 0 0 0 2
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 2 0 0 0 0 0 2
Medical Genetics, Christian Medical College 2 0 0 0 0 0 2
3billion 0 2 0 0 0 0 2
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn 0 2 0 0 0 0 2
MGZ Medical Genetics Center 0 0 1 0 0 0 1
Centogene AG - the Rare Disease Company 0 1 0 0 0 0 1
Mendelics 0 1 0 0 0 0 1
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 1 0 0 0 0 0 1
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center 0 0 1 0 0 0 1
Genomic Medicine Lab, University of California San Francisco 1 0 0 0 0 0 1
Pathology and Clinical Laboratory Medicine, King Fahad Medical City 0 1 0 0 0 0 1
Coyote Medical Laboratory (Beijing), Coyote 0 0 1 0 0 0 1
Section for Clinical Neurogenetics, University of Tübingen 0 1 0 0 0 0 1
Molecular Genetics Lab, CHRU Brest 1 0 0 0 0 0 1
Suma Genomics 0 0 1 0 0 0 1
Neuberg Centre For Genomic Medicine, NCGM 0 1 0 0 0 0 1
Igenomix - Part of Vitrolife Group, Igenomix 0 1 0 0 0 0 1

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