rs1557043622
|
|
A |
0.700 |
GeneticVariation |
CLINVAR |
SLC35A2-CDG: Functional characterization, expanded molecular, clinical, and biochemical phenotypes of 30 unreported Individuals.
|
30817854 |
2019 |
rs1562846694
|
|
G |
0.700 |
GeneticVariation |
CLINVAR |
Pathogenic homozygous variations in ACTL6B cause DECAM syndrome: Developmental delay, Epileptic encephalopathy, Cerebral Atrophy, and abnormal Myelination.
|
31134736 |
2019 |
rs1563686762
|
|
C |
0.700 |
GeneticVariation |
CLINVAR |
A novel RAD21 p.(Gln592del) variant expands the clinical description of Cornelia de Lange syndrome type 4 - Review of the literature.
|
30125677 |
2019 |
rs1114167445
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
A recessive mutation in beta-IV-spectrin (SPTBN4) associates with congenital myopathy, neuropathy, and central deafness.
|
28540413 |
2017 |
rs1555649483
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Haploinsufficiency of the Chromatin Remodeler BPTF Causes Syndromic Developmental and Speech Delay, Postnatal Microcephaly, and Dysmorphic Features.
|
28942966 |
2017 |
rs387907144
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
Targeted Next-Generation Sequencing Analysis of 1,000 Individuals with Intellectual Disability.
|
26350204 |
2015 |
rs63750687
|
|
T |
0.700 |
GeneticVariation |
CLINVAR |
A novel p.Leu(381)Phe mutation in presenilin 1 is associated with very early onset and unusually fast progressing dementia as well as lysosomal inclusions typically seen in Kufs disease.
|
24121961 |
2014 |
rs387907144
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
Mutations in SWI/SNF chromatin remodeling complex gene ARID1B cause Coffin-Siris syndrome.
|
22426309 |
2012 |
rs121908557
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
[The construction and preliminary investigation of the cell model of a novel mutation R675Q in the SCN4A gene identified in a Chinese family with normokalemic periodic paralysis].
|
19065518 |
2008 |
rs121908557
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
New mutations of SCN4A cause a potassium-sensitive normokalemic periodic paralysis.
|
15596759 |
2004 |
rs1057518812
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs1057518879
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs1057518883
|
|
C |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
rs1057519443
|
|
G |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs1064797103
|
|
G |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
rs1085307993
|
|
T |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
rs1085308004
|
|
G |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs111854391
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs112550005
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs1163944538
|
|
GA |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs1178187217
|
|
A |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
rs121908188
|
|
A |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
rs121918494
|
|
C |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
rs12720458
|
|
G |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
rs1352010373
|
|
C |
0.700 |
CausalMutation |
CLINVAR |
|
|
|