Variants from UM ALS/MND Lab, University Of Malta

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	risk factor	total
0	8	39	0	0	2	49

Gene and significance breakdown #

Total genes and gene combinations: 26

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Gene or gene combination	likely pathogenic	uncertain significance	risk factor	total
SPG11	0	9	0	9
SETX	2	3	0	5
ALS2	3	1	0	4
DCTN1	1	2	0	3
ERBB4	1	2	0	3
EWSR1	0	2	0	2
KIF5A	0	2	0	2
NEFH	0	2	0	2
SCFD1	0	2	0	2
ATXN2	0	1	0	1
ATXN2, LOC130008791	0	0	1	1
CAPN14	0	1	0	1
CFAP410	0	1	0	1
DAO	1	0	0	1
DDX20	0	1	0	1
DNAJC7	0	1	0	1
GLE1, LOC101929270	0	1	0	1
KANK1	0	1	0	1
LOC130056709, NIPA1	0	0	1	1
MOBP	0	1	0	1
NEK1	0	1	0	1
SARM1	0	1	0	1
SQSTM1	0	1	0	1
SS18L1	0	1	0	1
TNIP1	0	1	0	1
UNC13A	0	1	0	1

Condition and significance breakdown #

Total conditions: 1

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Condition	likely pathogenic	uncertain significance	risk factor	total
Amyotrophic lateral sclerosis	8	39	2	49

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