TBR1, T-box brain transcription factor 1, 10716

N. diseases: 65; N. variants: 23
Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs1553511216
rs1553511216 		1.000 0.040 2 161423815 frameshift variant -/GCCCGCAGTC delins
CUI: C1837397
Disease: Severe global developmental delay
Severe global developmental delay 		0.700 0
dbSNP: rs1553511224
rs1553511224 		0.882 0.080 2 161423825 frameshift variant -/C delins
CUI: C1837653
Disease: Inflexible adherence to routines or rituals
Inflexible adherence to routines or rituals 		Behavior and Behavior Mechanisms 0.700 0
dbSNP: rs1553511224
rs1553511224 		0.882 0.080 2 161423825 frameshift variant -/C delins
CUI: C0424503
Disease: Dysmorphic facies
Dysmorphic facies 		0.700 0
dbSNP: rs1553511224
rs1553511224 		0.882 0.080 2 161423825 frameshift variant -/C delins
CUI: C1854882
Disease: Absent speech
Absent speech 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 0
dbSNP: rs1553511224
rs1553511224 		0.882 0.080 2 161423825 frameshift variant -/C delins
CUI: C0431380
Disease: Cortical Dysplasia
Cortical Dysplasia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 0
dbSNP: rs1553511224
rs1553511224 		0.882 0.080 2 161423825 frameshift variant -/C delins
CUI: C1837397
Disease: Severe global developmental delay
Severe global developmental delay 		0.700 0
dbSNP: rs1553511224
rs1553511224 		0.882 0.080 2 161423825 frameshift variant -/C delins
CUI: C0151611
Disease: Electroencephalogram abnormal
Electroencephalogram abnormal 		Nervous System Diseases 0.700 0
dbSNP: rs1553511224
rs1553511224 		0.882 0.080 2 161423825 frameshift variant -/C delins
CUI: C0575081
Disease: Gait abnormality
Gait abnormality 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 0
dbSNP: rs1553511224
rs1553511224 		0.882 0.080 2 161423825 frameshift variant -/C delins
CUI: C4022524
Disease: Hypoplastic anterior commissure
Hypoplastic anterior commissure 		0.700 0
dbSNP: rs1553511224
rs1553511224 		0.882 0.080 2 161423825 frameshift variant -/C delins
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 0
dbSNP: rs1553511224
rs1553511224 		0.882 0.080 2 161423825 frameshift variant -/C delins
CUI: C4476822
Disease: Hypoplastic hippocampus
Hypoplastic hippocampus 		0.700 0
dbSNP: rs1553511226
rs1553511226 		1.000 0.040 2 161423830 frameshift variant GC/- delins
CUI: C1837397
Disease: Severe global developmental delay
Severe global developmental delay 		0.700 0
dbSNP: rs1553511226
rs1553511226 		1.000 0.040 2 161423830 frameshift variant GC/- delins
CUI: C0856975
Disease: Autistic behavior
Autistic behavior 		Behavior and Behavior Mechanisms 0.700 0
dbSNP: rs1559060428
rs1559060428 		1.000 2 161417796 missense variant G/T snv
CUI: C1853755
Disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH AUTISM AND SPEECH DELAY
INTELLECTUAL DEVELOPMENTAL DISORDER WITH AUTISM AND SPEECH DELAY 		0.700 0
dbSNP: rs762713626
rs762713626 		1.000 0.040 2 161420222 missense variant C/G;T snv 4.0E-06 7.0E-06
CUI: C2237142
Disease: Moderate global developmental delay
Moderate global developmental delay 		0.700 0
dbSNP: rs762713626
rs762713626 		1.000 0.040 2 161420222 missense variant C/G;T snv 4.0E-06 7.0E-06
CUI: C0856975
Disease: Autistic behavior
Autistic behavior 		Behavior and Behavior Mechanisms 0.700 0
dbSNP: rs771354583
rs771354583 		1.000 2 161416942 stop gained C/G;T snv 2.0E-05 1.4E-05
CUI: C1853755
Disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH AUTISM AND SPEECH DELAY
INTELLECTUAL DEVELOPMENTAL DISORDER WITH AUTISM AND SPEECH DELAY 		0.700 0
dbSNP: rs869312704
rs869312704 		0.882 0.160 2 161423752 frameshift variant -/GGCTGCA delins
CUI: C1838391
Disease: Limb hypertonia
Limb hypertonia 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 0
dbSNP: rs869312704
rs869312704 		0.882 0.160 2 161423752 frameshift variant -/GGCTGCA delins
CUI: C1837397
Disease: Severe global developmental delay
Severe global developmental delay 		0.700 0
dbSNP: rs869312704
rs869312704 		0.882 0.160 2 161423752 frameshift variant -/GGCTGCA delins
CUI: C0856975
Disease: Autistic behavior
Autistic behavior 		Behavior and Behavior Mechanisms 0.700 0
dbSNP: rs869312704
rs869312704 		0.882 0.160 2 161423752 frameshift variant -/GGCTGCA delins
CUI: C1853755
Disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH AUTISM AND SPEECH DELAY
INTELLECTUAL DEVELOPMENTAL DISORDER WITH AUTISM AND SPEECH DELAY 		0.700 0
dbSNP: rs869312704
rs869312704 		0.882 0.160 2 161423752 frameshift variant -/GGCTGCA delins
CUI: C4551563
Disease: Microcephaly (physical finding)
Microcephaly (physical finding) 		0.700 0
dbSNP: rs869312704
rs869312704 		0.882 0.160 2 161423752 frameshift variant -/GGCTGCA delins
CUI: C1842364
Disease: Central hypotonia
Central hypotonia 		0.700 0
dbSNP: rs869312704
rs869312704 		0.882 0.160 2 161423752 frameshift variant -/GGCTGCA delins
CUI: C0454644
Disease: Delayed speech and language development
Delayed speech and language development 		Behavior and Behavior Mechanisms 0.700 0
dbSNP: rs869312704
rs869312704 		0.882 0.160 2 161423752 frameshift variant -/GGCTGCA delins
CUI: C1535926
Disease: Neurodevelopmental Disorders
Neurodevelopmental Disorders 		Mental Disorders 0.700 0