rs1057517955
|
KDM5C;MIR6894
|
Dysmorphic features
|
T |
0.700 |
GeneticVariation |
CLINVAR |
A novel mutation in JARID1CSMCX in a patient with autism spectrum disorder (ASD).
|
18203167 |
2008 |
rs1556836399
|
KDM5C;MIR6895
|
Dysmorphic features
|
A |
0.700 |
CausalMutation |
CLINVAR |
A novel mutation in JARID1CSMCX in a patient with autism spectrum disorder (ASD).
|
18203167 |
2008 |
rs1556837420
|
KDM5C;MIR6895
|
Dysmorphic features
|
A |
0.700 |
CausalMutation |
CLINVAR |
A novel mutation in JARID1CSMCX in a patient with autism spectrum disorder (ASD).
|
18203167 |
2008 |
rs199422235
|
Entrez Id: |
8242 |
Gene Symbol: |
KDM5C |
KDM5C
|
Dysmorphic features
|
G |
0.700 |
GeneticVariation |
CLINVAR |
A novel mutation in JARID1CSMCX in a patient with autism spectrum disorder (ASD).
|
18203167 |
2008 |
rs1057517955
|
KDM5C;MIR6894
|
Dysmorphic features
|
T |
0.700 |
GeneticVariation |
CLINVAR |
Different X-linked KDM5C mutations in affected male siblings: is maternal reversion error involved?
|
26919706 |
2016 |
rs1556836399
|
KDM5C;MIR6895
|
Dysmorphic features
|
A |
0.700 |
CausalMutation |
CLINVAR |
Different X-linked KDM5C mutations in affected male siblings: is maternal reversion error involved?
|
26919706 |
2016 |
rs1556837420
|
KDM5C;MIR6895
|
Dysmorphic features
|
A |
0.700 |
CausalMutation |
CLINVAR |
Different X-linked KDM5C mutations in affected male siblings: is maternal reversion error involved?
|
26919706 |
2016 |
rs199422235
|
Entrez Id: |
8242 |
Gene Symbol: |
KDM5C |
KDM5C
|
Dysmorphic features
|
G |
0.700 |
GeneticVariation |
CLINVAR |
Different X-linked KDM5C mutations in affected male siblings: is maternal reversion error involved?
|
26919706 |
2016 |
rs1057517955
|
KDM5C;MIR6894
|
Dysmorphic features
|
T |
0.700 |
GeneticVariation |
CLINVAR |
Exome sequencing in multiplex autism families suggests a major role for heterozygous truncating mutations.
|
23999528 |
2014 |
rs1556836399
|
KDM5C;MIR6895
|
Dysmorphic features
|
A |
0.700 |
CausalMutation |
CLINVAR |
Exome sequencing in multiplex autism families suggests a major role for heterozygous truncating mutations.
|
23999528 |
2014 |
rs1556837420
|
KDM5C;MIR6895
|
Dysmorphic features
|
A |
0.700 |
CausalMutation |
CLINVAR |
Exome sequencing in multiplex autism families suggests a major role for heterozygous truncating mutations.
|
23999528 |
2014 |
rs199422235
|
Entrez Id: |
8242 |
Gene Symbol: |
KDM5C |
KDM5C
|
Dysmorphic features
|
G |
0.700 |
GeneticVariation |
CLINVAR |
Exome sequencing in multiplex autism families suggests a major role for heterozygous truncating mutations.
|
23999528 |
2014 |
rs1057517955
|
KDM5C;MIR6894
|
Dysmorphic features
|
T |
0.700 |
GeneticVariation |
CLINVAR |
Identification and characterization of two novel JARID1C mutations: suggestion of an emerging genotype-phenotype correlation.
|
19826449 |
2010 |
rs1556836399
|
KDM5C;MIR6895
|
Dysmorphic features
|
A |
0.700 |
CausalMutation |
CLINVAR |
Identification and characterization of two novel JARID1C mutations: suggestion of an emerging genotype-phenotype correlation.
|
19826449 |
2010 |
rs1556837420
|
KDM5C;MIR6895
|
Dysmorphic features
|
A |
0.700 |
CausalMutation |
CLINVAR |
Identification and characterization of two novel JARID1C mutations: suggestion of an emerging genotype-phenotype correlation.
|
19826449 |
2010 |
rs199422235
|
Entrez Id: |
8242 |
Gene Symbol: |
KDM5C |
KDM5C
|
Dysmorphic features
|
G |
0.700 |
GeneticVariation |
CLINVAR |
Identification and characterization of two novel JARID1C mutations: suggestion of an emerging genotype-phenotype correlation.
|
19826449 |
2010 |
rs1057517955
|
KDM5C;MIR6894
|
Dysmorphic features
|
T |
0.700 |
GeneticVariation |
CLINVAR |
KDM5C mutational screening among males with intellectual disability suggestive of X-Linked inheritance and review of the literature.
|
24583395 |
2014 |
rs1556836399
|
KDM5C;MIR6895
|
Dysmorphic features
|
A |
0.700 |
CausalMutation |
CLINVAR |
KDM5C mutational screening among males with intellectual disability suggestive of X-Linked inheritance and review of the literature.
|
24583395 |
2014 |
rs1556837420
|
KDM5C;MIR6895
|
Dysmorphic features
|
A |
0.700 |
CausalMutation |
CLINVAR |
KDM5C mutational screening among males with intellectual disability suggestive of X-Linked inheritance and review of the literature.
|
24583395 |
2014 |
rs199422235
|
Entrez Id: |
8242 |
Gene Symbol: |
KDM5C |
KDM5C
|
Dysmorphic features
|
G |
0.700 |
GeneticVariation |
CLINVAR |
KDM5C mutational screening among males with intellectual disability suggestive of X-Linked inheritance and review of the literature.
|
24583395 |
2014 |
rs1057517955
|
KDM5C;MIR6894
|
Dysmorphic features
|
T |
0.700 |
GeneticVariation |
CLINVAR |
Mutations in JARID1C are associated with X-linked mental retardation, short stature and hyperreflexia.
|
18697827 |
2008 |
rs1556836399
|
KDM5C;MIR6895
|
Dysmorphic features
|
A |
0.700 |
CausalMutation |
CLINVAR |
Mutations in JARID1C are associated with X-linked mental retardation, short stature and hyperreflexia.
|
18697827 |
2008 |
rs1556837420
|
KDM5C;MIR6895
|
Dysmorphic features
|
A |
0.700 |
CausalMutation |
CLINVAR |
Mutations in JARID1C are associated with X-linked mental retardation, short stature and hyperreflexia.
|
18697827 |
2008 |
rs199422235
|
Entrez Id: |
8242 |
Gene Symbol: |
KDM5C |
KDM5C
|
Dysmorphic features
|
G |
0.700 |
GeneticVariation |
CLINVAR |
Mutations in JARID1C are associated with X-linked mental retardation, short stature and hyperreflexia.
|
18697827 |
2008 |
rs1057517955
|
KDM5C;MIR6894
|
Dysmorphic features
|
T |
0.700 |
GeneticVariation |
CLINVAR |
Mutations in the intellectual disability gene KDM5C reduce protein stability and demethylase activity.
|
25666439 |
2015 |