rs1555817157
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Phenotypical features of two patients diagnosed with PHARC syndrome and carriers of a new homozygous mutation in the ABHD12 gene.
|
29571850 |
2018 |
rs1020764190
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs1057517686
|
|
T |
0.700 |
GeneticVariation |
CLINVAR |
We identified a recurrent de novo ATAD3A c.1582C>T (p.Arg528Trp) variant by whole-exome sequencing (WES) in five unrelated individuals with a core phenotype of global developmental delay, hypotonia, optic atrophy, axonal neuropathy, and hypertrophic cardiomyopathy.
|
27640307 |
2016 |
rs397514477
|
|
|
0.010 |
GeneticVariation |
BEFREE |
We compared the most frequent mutations, p.Thr11Met and p.Gly69ArgfsX10; the latter was associated with younger age at onset and more frequent optic atrophy in homozygotes.
|
30088953 |
2018 |
rs1555968941
|
|
C |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
rs2157719
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Both NPG loci were also nominally associated with a second type of glaucoma, exfoliation syndrome glaucoma (rs2157719 [G], OR = 0.59 [95% CI 0.41-0.87], p = 0.004 and rs284489 [G], OR = 0.76 [95% CI 0.54-1.06], p = 0.021), suggesting that these loci might contribute more generally to optic nerve degeneration in glaucoma.
|
22570617 |
2012 |
rs779027563
|
|
C |
0.700 |
GeneticVariation |
CLINVAR |
Novel mutation in CNTNAP1 results in congenital hypomyelinating neuropathy.
|
27668699 |
2017 |
rs1555303073
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs387906799
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs672601363
|
|
T |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
rs672601366
|
|
G |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
rs672601367
|
|
G |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
rs672601369
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs672601370
|
|
A |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
rs672601371
|
|
T |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
rs1057519286
|
|
C |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
rs1057519287
|
|
G |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
rs145192716
|
|
A |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
rs756421370
|
|
TA |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
rs759218713
|
|
C |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
rs762913101
|
|
T |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
rs119103265
|
|
|
0.020 |
GeneticVariation |
BEFREE |
We identified two HMSN VI families with the R364W mutation in the early onset group; however, two other families with the same mutation did not have optic atrophy.
|
16835246 |
2006 |
rs119103265
|
|
|
0.020 |
GeneticVariation |
BEFREE |
The patient is a Caucasian male with HMSN VI (type 2A Charcot-Marie-Tooth disease and associated optic atrophy) and a c.1090C→T (p.R364W) mutation in the mitofusin 2 (MFN2) gene.
|
21707411 |
2011 |
rs780533096
|
|
T |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
rs104894270
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The combined mutation (T145I + R199W) in the subunit is reported to cause optic atrophy and Leigh syndrome accompanied by severe Complex-I deficiency.
|
24028823 |
2013 |