Variants studied for Amyotrophic lateral sclerosis

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		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	association	risk factor	total
6	21	105	6	5	1	2	145

Gene and significance breakdown #

Total genes and gene combinations: 58

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Gene or gene combination	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	association	risk factor	total
FIG4	0	1	13	1	0	0	0	14
SETX	0	2	8	0	0	0	0	10
SPG11	0	0	10	0	0	0	0	10
DCTN1	0	2	4	0	2	0	0	8
ERBB4	0	1	6	0	1	0	0	8
CHRNA3	0	4	1	0	0	0	0	5
DAO	0	1	3	1	0	0	0	5
SOD1	3	2	0	0	0	0	0	5
ALS2	0	3	1	0	0	0	0	4
ANXA11	0	1	3	0	0	0	0	4
CHRNA4	0	0	1	2	0	0	0	3
CHRNB4	0	0	1	0	2	0	0	3
KIF5A	0	0	3	0	0	0	0	3
NEFH	0	0	3	0	0	0	0	3
SQSTM1	0	1	2	0	0	0	0	3
TBK1	2	1	0	0	0	0	0	3
UNC13A	0	0	2	0	0	1	0	3
C9orf72, LOC109504728, LOC129929032	1	0	1	0	0	0	0	2
EWSR1	0	0	2	0	0	0	0	2
GLE1, LOC101929270	0	0	2	0	0	0	0	2
MATR3	0	0	2	0	0	0	0	2
NEK1	0	0	2	0	0	0	0	2
OPTN	0	0	2	0	0	0	0	2
PFN1	0	0	2	0	0	0	0	2
PNPLA6	0	0	2	0	0	0	0	2
SCFD1	0	0	2	0	0	0	0	2
SPTLC1	0	1	1	0	0	0	0	2
ABCA7	0	0	1	0	0	0	0	1
ANG, EGILA, RNASE4	0	0	1	0	0	0	0	1
ATXN2	0	0	1	0	0	0	0	1
ATXN2, LOC130008791	0	0	0	0	0	0	1	1
CAPN14	0	0	1	0	0	0	0	1
CCNF	0	0	1	0	0	0	0	1
CCNF, LOC105371050	0	0	1	0	0	0	0	1
CFAP410	0	0	1	0	0	0	0	1
CHCHD10	0	0	1	0	0	0	0	1
DDX20	0	0	1	0	0	0	0	1
DNAJC7	0	0	1	0	0	0	0	1
DYNC1H1	0	0	1	0	0	0	0	1
ELP3	0	0	1	0	0	0	0	1
FUS	0	0	1	0	0	0	0	1
GLT8D1	0	0	1	0	0	0	0	1
KANK1	0	0	1	0	0	0	0	1
LOC108903148, OPTN	0	0	1	0	0	0	0	1
LOC126807526, MATR3	0	0	1	0	0	0	0	1
LOC126860782, SETX	0	0	1	0	0	0	0	1
LOC130056709, NIPA1	0	0	0	0	0	0	1	1
MOBP	0	0	1	0	0	0	0	1
PON1	0	0	1	0	0	0	0	1
PON3	0	0	0	1	0	0	0	1
PRPH, TROAP	0	0	1	0	0	0	0	1
SARM1	0	0	1	0	0	0	0	1
SOD1, SOD1-DT	0	0	1	0	0	0	0	1
SS18L1	0	0	1	0	0	0	0	1
TNIP1	0	0	1	0	0	0	0	1
TUBA4A	0	0	1	0	0	0	0	1
UBQLN2	0	0	0	1	0	0	0	1
VCP	0	1	0	0	0	0	0	1

Submitter and significance breakdown #

Total submitters: 15

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Submitter	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	association	risk factor	total
UM ALS/MND Lab, University Of Malta	0	8	39	0	0	0	2	49
Suna and Inan Kirac Foundation Neurodegeneration Research Laboratory, Koc University	0	6	21	5	5	0	0	37
Dept. of Medical Genetics, Telemark Hospital Trust, Telemark Hospital Trust	4	3	26	0	0	0	0	33
Inherited Neuropathy Consortium Ii, University Of Miami	0	0	10	0	0	0	0	10
Molecular Genetics, Royal Melbourne Hospital	1	1	4	0	0	0	0	6
Genomic Research Center, Shahid Beheshti University of Medical Sciences	0	0	1	1	0	0	0	2
Human Genetics Bochum, Ruhr University Bochum	0	1	1	0	0	0	0	2
Center of Genomic medicine, Geneva, University Hospital of Geneva	1	0	0	0	0	0	0	1
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen	1	0	0	0	0	0	0	1
Bonnemann Lab, National Institutes of Health	0	1	0	0	0	0	0	1
University Research Institute for the Study of Genetic and Malignant Disorders in Childhood, National and Kapodistrian University of Athens	0	0	1	0	0	0	0	1
Department of Human Genetics, Hannover Medical School	0	0	1	0	0	0	0	1
Motor Neurone Disease Genetics and Therapeutics, Perron Institute for Neurological and Translational Science	0	0	1	0	0	0	0	1
Neurogenomics Lab, Neuroscience Institute, University Of Cape Town	0	1	0	0	0	0	0	1
Department of Research, Sir Ganga Ram Hospital	0	0	0	0	0	1	0	1

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