rs768180196
|
|
G |
0.700 |
CausalMutation |
CLINVAR |
DEGS1 variant causes neurological disorder.
|
31186544 |
2019 |
rs776679653
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
Homozygous p.(Glu87Lys) variant in ISCA1 is associated with a multiple mitochondrial dysfunctions syndrome.
|
28356563 |
2017 |
rs1057518843
|
|
T |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
rs1057523354
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs113994063
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs1555384318
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs1561904557
|
|
TGCC |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs371334506
|
|
G |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs377274761
|
|
T |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
rs377510027
|
|
G |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
rs727503786
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs730882248
|
|
T |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
rs74315475
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs761953453
|
|
A |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
rs765061840
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs769235753
|
|
T |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
rs777476179
|
|
T |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
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 |
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 |
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 |
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 |
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 |
rs267608670
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Absence of neurological abnormalities in mice homozygous for the Polr3a G672E hypomyelinating leukodystrophy mutation.
|
28407788 |
2017 |
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 |
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 |