rs1034395178
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Autosomal recessive Noonan syndrome associated with biallelic LZTR1 variants.
|
29469822 |
2018 |
rs1048764460
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs1057518940
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs1057518950
|
|
T |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
rs1057518961
|
|
T |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
rs1057518963
|
|
G |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
rs1057518966
|
|
A |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
rs1057519429
|
|
G |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
rs1057521721
|
|
A |
0.700 |
GeneticVariation |
CLINVAR |
A point mutation in the ion conduction pore of AMPA receptor GRIA3 causes dramatically perturbed sleep patterns as well as intellectual disability.
|
29016847 |
2017 |
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 |
rs121909218
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs1287121256
|
|
G |
0.700 |
CausalMutation |
CLINVAR |
De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability.
|
29100089 |
2017 |
rs1400419650
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs142239530
|
|
T |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
rs1554121872
|
|
G |
0.700 |
CausalMutation |
CLINVAR |
De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability.
|
29100089 |
2017 |
rs1554121875
|
|
C |
0.700 |
CausalMutation |
CLINVAR |
De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability.
|
29100089 |
2017 |
rs1554122123
|
|
CA |
0.700 |
GeneticVariation |
CLINVAR |
De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability.
|
29100089 |
2017 |
rs1554122129
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability.
|
29100089 |
2017 |
rs1554122526
|
|
G |
0.700 |
CausalMutation |
CLINVAR |
De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability.
|
29100089 |
2017 |
rs1554123982
|
|
T |
0.700 |
GeneticVariation |
CLINVAR |
De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability.
|
29100089 |
2017 |
rs1554385305
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability.
|
29100089 |
2017 |
rs1554386687
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability.
|
29100089 |
2017 |
rs1554389088
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability.
|
29100089 |
2017 |
rs1554893835
|
|
C |
0.700 |
CausalMutation |
CLINVAR |
|
|
|