Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs768180196
rs768180196
G 0.700 CausalMutation CLINVAR DEGS1 variant causes neurological disorder. 31186544

2019

dbSNP: rs776679653
rs776679653
T 0.700 CausalMutation CLINVAR Homozygous p.(Glu87Lys) variant in ISCA1 is associated with a multiple mitochondrial dysfunctions syndrome. 28356563

2017

dbSNP: rs1057518843
rs1057518843
T 0.700 GeneticVariation CLINVAR

dbSNP: rs1057523354
rs1057523354
A 0.700 CausalMutation CLINVAR

dbSNP: rs113994063
rs113994063
T 0.700 CausalMutation CLINVAR

dbSNP: rs1555384318
rs1555384318
T 0.700 CausalMutation CLINVAR

dbSNP: rs1561904557
rs1561904557
TGCC 0.700 CausalMutation CLINVAR

dbSNP: rs371334506
rs371334506
G 0.700 CausalMutation CLINVAR

dbSNP: rs377274761
rs377274761
T 0.700 GeneticVariation CLINVAR

dbSNP: rs377510027
rs377510027
G 0.700 GeneticVariation CLINVAR

dbSNP: rs727503786
rs727503786
T 0.700 CausalMutation CLINVAR

dbSNP: rs730882248
rs730882248
T 0.700 GeneticVariation CLINVAR

dbSNP: rs74315475
rs74315475
A 0.700 CausalMutation CLINVAR

dbSNP: rs761953453
rs761953453
A 0.700 GeneticVariation CLINVAR

dbSNP: rs765061840
rs765061840
A 0.700 CausalMutation CLINVAR

dbSNP: rs769235753
rs769235753
T 0.700 GeneticVariation CLINVAR

dbSNP: rs777476179
rs777476179
T 0.700 GeneticVariation CLINVAR

dbSNP: rs759670932
rs759670932
0.010 GeneticVariation BEFREE Through whole-exome sequencing, we identified a Chinese patient with leukodystrophy related to two novel compounds heterozygous mutation in AARS2 (c.965 G > A, p.R322H; c.334 G > C, p.G112R). 31388113

2019

dbSNP: rs780148992
rs780148992
0.010 GeneticVariation BEFREE To determine if other POLR3-HLD mutations can cause a leukodystrophy phenotype in mouse, we characterized mice carrying the Polr3b mutation c.308G > A (p.Arg103His). 31221184

2019

dbSNP: rs121908345
rs121908345
0.010 GeneticVariation BEFREE WGS and replication studies identified three pathogenic variants in PPMS patients that cause neurological disorders sharing features with MS: KIF5A p.Ala361Val in spastic paraplegia 10; MLC1 p.Pro92Ser in megalencephalic leukodystrophy with subcortical cysts, and REEP1 c.606 + 43G>T in Spastic Paraplegia 31. 29908077

2018

dbSNP: rs1364050643
rs1364050643
0.010 GeneticVariation BEFREE WGS and replication studies identified three pathogenic variants in PPMS patients that cause neurological disorders sharing features with MS: KIF5A p.Ala361Val in spastic paraplegia 10; MLC1 p.Pro92Ser in megalencephalic leukodystrophy with subcortical cysts, and REEP1 c.606 + 43G>T in Spastic Paraplegia 31. 29908077

2018

dbSNP: rs542844862
rs542844862
0.010 GeneticVariation BEFREE Using whole genome sequencing, we detected previously unreported, biallelic variants in <i>PEX16</i> [NM_004813.2:c.658G>A, p.(Ala220Thr) and NM_004813.2:c.830G>A, p.(Arg277Gln)] in an individual with leukodystrophy, spastic paraplegia, cerebellar ataxia, and craniocervical dystonia with normal plasma very long chain fatty acids. 30094183

2018

dbSNP: rs267608670
rs267608670
0.010 GeneticVariation BEFREE Absence of neurological abnormalities in mice homozygous for the Polr3a G672E hypomyelinating leukodystrophy mutation. 28407788

2017

dbSNP: rs1554988032
rs1554988032
0.010 GeneticVariation BEFREE Homozygosity for the p.E33G mutation in the ACER3 gene results in inactivation of ACER3, leading to the accumulation of various sphingolipids in blood and probably in brain, likely accounting for this new form of childhood leukodystrophy. 26792856

2016

dbSNP: rs151266052
rs151266052
0.010 GeneticVariation BEFREE Here, we report the clinical and molecular investigations of two patients with histochemical and biochemical evidence of a severe, isolated complex II deficiency due to novel SDH gene mutations; the first patient presented with cardiomyopathy and leukodystrophy due to compound heterozygous p.Thr508Ile and p.Ser509Leu SDHA mutations, while the second patient presented with hypotonia and leukodystrophy with elevated brain succinate demonstrated by MR spectroscopy due to a novel, homozygous p.Asp48Val SDHB mutation. 22972948

2012