rs1052897
|
TFR2;ACTL6B
|
Corpuscular Hemoglobin Concentration Mean
|
|
0.700 |
GeneticVariation |
GWASDB |
Seventy-five genetic loci influencing the human red blood cell.
|
23222517 |
2012 |
rs1060499738
|
Entrez Id: |
51412 |
Gene Symbol: |
ACTL6B |
ACTL6B
|
Global developmental delay
|
T |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
rs1060499738
|
Entrez Id: |
51412 |
Gene Symbol: |
ACTL6B |
ACTL6B
|
Poor school performance
|
T |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
rs10953299
|
Entrez Id: |
51412 |
Gene Symbol: |
ACTL6B |
ACTL6B
|
Hematocrit procedure
|
|
0.700 |
GeneticVariation |
GWASCAT |
Genetic analysis of quantitative traits in the Japanese population links cell types to complex human diseases.
|
29403010 |
2018 |
rs1131692228
|
Entrez Id: |
51412 |
Gene Symbol: |
ACTL6B |
ACTL6B
|
Global developmental delay
|
T |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs1131692228
|
Entrez Id: |
51412 |
Gene Symbol: |
ACTL6B |
ACTL6B
|
Tracheomalacia
|
T |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs1131692228
|
Entrez Id: |
51412 |
Gene Symbol: |
ACTL6B |
ACTL6B
|
Absent speech
|
T |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs1131692228
|
Entrez Id: |
51412 |
Gene Symbol: |
ACTL6B |
ACTL6B
|
Delayed speech and language development
|
T |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs1131692228
|
Entrez Id: |
51412 |
Gene Symbol: |
ACTL6B |
ACTL6B
|
Generalized hypotonia
|
T |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs1562846694
|
TFR2;ACTL6B
|
Open mouth (finding)
|
G |
0.700 |
GeneticVariation |
CLINVAR |
Pathogenic homozygous variations in ACTL6B cause DECAM syndrome: Developmental delay, Epileptic encephalopathy, Cerebral Atrophy, and abnormal Myelination.
|
31134736 |
2019 |
rs1562846694
|
TFR2;ACTL6B
|
Generalized limb muscle atrophy
|
G |
0.700 |
GeneticVariation |
CLINVAR |
Pathogenic homozygous variations in ACTL6B cause DECAM syndrome: Developmental delay, Epileptic encephalopathy, Cerebral Atrophy, and abnormal Myelination.
|
31134736 |
2019 |
rs1562846694
|
TFR2;ACTL6B
|
Hypoplasia of corpus callosum
|
G |
0.700 |
GeneticVariation |
CLINVAR |
Pathogenic homozygous variations in ACTL6B cause DECAM syndrome: Developmental delay, Epileptic encephalopathy, Cerebral Atrophy, and abnormal Myelination.
|
31134736 |
2019 |
rs1562846694
|
TFR2;ACTL6B
|
Muscular hypotonia of the trunk
|
G |
0.700 |
GeneticVariation |
CLINVAR |
Pathogenic homozygous variations in ACTL6B cause DECAM syndrome: Developmental delay, Epileptic encephalopathy, Cerebral Atrophy, and abnormal Myelination.
|
31134736 |
2019 |
rs1562846694
|
TFR2;ACTL6B
|
Bulbous nose
|
G |
0.700 |
GeneticVariation |
CLINVAR |
Pathogenic homozygous variations in ACTL6B cause DECAM syndrome: Developmental delay, Epileptic encephalopathy, Cerebral Atrophy, and abnormal Myelination.
|
31134736 |
2019 |
rs1562846694
|
TFR2;ACTL6B
|
Strabismus
|
G |
0.700 |
GeneticVariation |
CLINVAR |
Pathogenic homozygous variations in ACTL6B cause DECAM syndrome: Developmental delay, Epileptic encephalopathy, Cerebral Atrophy, and abnormal Myelination.
|
31134736 |
2019 |
rs1562846694
|
TFR2;ACTL6B
|
Neurodevelopmental delay
|
G |
0.700 |
GeneticVariation |
CLINVAR |
Pathogenic homozygous variations in ACTL6B cause DECAM syndrome: Developmental delay, Epileptic encephalopathy, Cerebral Atrophy, and abnormal Myelination.
|
31134736 |
2019 |
rs1562846694
|
TFR2;ACTL6B
|
Cerebellar vermis hypoplasia
|
G |
0.700 |
GeneticVariation |
CLINVAR |
Pathogenic homozygous variations in ACTL6B cause DECAM syndrome: Developmental delay, Epileptic encephalopathy, Cerebral Atrophy, and abnormal Myelination.
|
31134736 |
2019 |
rs1562846694
|
TFR2;ACTL6B
|
Dystonia, Limb
|
G |
0.700 |
GeneticVariation |
CLINVAR |
Pathogenic homozygous variations in ACTL6B cause DECAM syndrome: Developmental delay, Epileptic encephalopathy, Cerebral Atrophy, and abnormal Myelination.
|
31134736 |
2019 |
rs1562846694
|
TFR2;ACTL6B
|
Global developmental delay
|
G |
0.700 |
GeneticVariation |
CLINVAR |
Pathogenic homozygous variations in ACTL6B cause DECAM syndrome: Developmental delay, Epileptic encephalopathy, Cerebral Atrophy, and abnormal Myelination.
|
31134736 |
2019 |
rs1562846694
|
TFR2;ACTL6B
|
Focal T2 hyperintense brainstem lesion
|
G |
0.700 |
GeneticVariation |
CLINVAR |
Pathogenic homozygous variations in ACTL6B cause DECAM syndrome: Developmental delay, Epileptic encephalopathy, Cerebral Atrophy, and abnormal Myelination.
|
31134736 |
2019 |
rs1562846694
|
TFR2;ACTL6B
|
Frontal bossing
|
G |
0.700 |
GeneticVariation |
CLINVAR |
Pathogenic homozygous variations in ACTL6B cause DECAM syndrome: Developmental delay, Epileptic encephalopathy, Cerebral Atrophy, and abnormal Myelination.
|
31134736 |
2019 |
rs1562846694
|
TFR2;ACTL6B
|
Breath-holding spell
|
G |
0.700 |
GeneticVariation |
CLINVAR |
Pathogenic homozygous variations in ACTL6B cause DECAM syndrome: Developmental delay, Epileptic encephalopathy, Cerebral Atrophy, and abnormal Myelination.
|
31134736 |
2019 |
rs1562846694
|
TFR2;ACTL6B
|
Poor eye contact
|
G |
0.700 |
GeneticVariation |
CLINVAR |
Pathogenic homozygous variations in ACTL6B cause DECAM syndrome: Developmental delay, Epileptic encephalopathy, Cerebral Atrophy, and abnormal Myelination.
|
31134736 |
2019 |
rs1562846694
|
TFR2;ACTL6B
|
Extrapyramidal sign
|
G |
0.700 |
GeneticVariation |
CLINVAR |
Pathogenic homozygous variations in ACTL6B cause DECAM syndrome: Developmental delay, Epileptic encephalopathy, Cerebral Atrophy, and abnormal Myelination.
|
31134736 |
2019 |
rs1562846694
|
TFR2;ACTL6B
|
Macrotia
|
G |
0.700 |
GeneticVariation |
CLINVAR |
Pathogenic homozygous variations in ACTL6B cause DECAM syndrome: Developmental delay, Epileptic encephalopathy, Cerebral Atrophy, and abnormal Myelination.
|
31134736 |
2019 |