TBCK, TBC1 domain containing kinase, 93627

N. diseases: 85; N. variants: 11
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: rs1057518332
rs1057518332 		1.000 4 106230366 stop gained G/A snv 4.0E-06
CUI: C4225161
Disease: HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES 3
HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES 3 		0.700 1.000 3 2013 2016
dbSNP: rs869320711
rs869320711 		1.000 4 106233045 missense variant C/T snv 4.0E-06
CUI: C4225161
Disease: HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES 3
HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES 3 		0.800 1.000 3 2015 2016
dbSNP: rs575822089
rs575822089 		0.882 0.120 4 106262103 stop gained G/A snv 7.7E-05 2.2E-04
CUI: C4225161
Disease: HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES 3
HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES 3 		0.700 1.000 2 2016 2016
dbSNP: rs575822089
rs575822089 		0.882 0.120 4 106262103 stop gained G/A snv 7.7E-05 2.2E-04
CUI: C0270971
Disease: Floppy infant syndrome
Floppy infant syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases 0.010 1.000 1 2018 2018
dbSNP: rs575822089
rs575822089 		0.882 0.120 4 106262103 stop gained G/A snv 7.7E-05 2.2E-04
CUI: C0014544
Disease: Epilepsy
Epilepsy 		Nervous System Diseases 0.010 1.000 1 2018 2018
dbSNP: rs374319146
rs374319146 		0.851 0.080 4 106194717 splice donor variant C/A;T snv 4.3E-06; 8.7E-06
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.700 0
dbSNP: rs374319146
rs374319146 		0.851 0.080 4 106194717 splice donor variant C/A;T snv 4.3E-06; 8.7E-06
CUI: C0014544
Disease: Epilepsy
Epilepsy 		Nervous System Diseases 0.700 0
dbSNP: rs374319146
rs374319146 		0.851 0.080 4 106194717 splice donor variant C/A;T snv 4.3E-06; 8.7E-06
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 0
dbSNP: rs374319146
rs374319146 		0.851 0.080 4 106194717 splice donor variant C/A;T snv 4.3E-06; 8.7E-06
CUI: C3150353
Disease: Ventral septal defect (VSD)
Ventral septal defect (VSD) 		0.700 0
dbSNP: rs374319146
rs374319146 		0.851 0.080 4 106194717 splice donor variant C/A;T snv 4.3E-06; 8.7E-06
CUI: C1737329
Disease: Dysmorphism
Dysmorphism 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities 0.700 0
dbSNP: rs374319146
rs374319146 		0.851 0.080 4 106194717 splice donor variant C/A;T snv 4.3E-06; 8.7E-06
CUI: C4225161
Disease: HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES 3
HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES 3 		0.700 0
dbSNP: rs376699648
rs376699648 		1.000 4 106235355 stop gained T/A snv 2.0E-05 2.8E-05
CUI: C4225161
Disease: HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES 3
HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES 3 		0.700 0
dbSNP: rs62321379
rs62321379 		1.000 4 106171272 splice acceptor variant T/C snv 3.0E-05 4.9E-05
CUI: C4225161
Disease: HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES 3
HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES 3 		0.700 0
dbSNP: rs869320769
rs869320769 		1.000 4 106247238 frameshift variant -/AT delins
CUI: C4225161
Disease: HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES 3
HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES 3 		0.700 1.000 1 2016 2016
dbSNP: rs1560755661
rs1560755661 		0.701 0.480 4 106171094 splice donor variant CAGATCTGTCTTTGGAGGATCTGGACACTCAGCAGAGAAATAAGGTGCCGAACTTCTGCCTCCACTGCTGTCAGAAGATGGCTTTGGAGGTTGAGCATGCTGTCTGTAAGTAGCACTTTTAGGAGTCCAACAAAACAGGTTGATAGATTCTCTCACACAGCGTTCAATGTCAATTTC/- delins
CUI: C0240635
Disease: Byzanthine arch palate
Byzanthine arch palate 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Stomatognathic Diseases 0.700 0
dbSNP: rs1560755661
rs1560755661 		0.701 0.480 4 106171094 splice donor variant CAGATCTGTCTTTGGAGGATCTGGACACTCAGCAGAGAAATAAGGTGCCGAACTTCTGCCTCCACTGCTGTCAGAAGATGGCTTTGGAGGTTGAGCATGCTGTCTGTAAGTAGCACTTTTAGGAGTCCAACAAAACAGGTTGATAGATTCTCTCACACAGCGTTCAATGTCAATTTC/- delins
CUI: C0015672
Disease: Fatigue
Fatigue 		Pathological Conditions, Signs and Symptoms 0.700 0
dbSNP: rs1560755661
rs1560755661 		0.701 0.480 4 106171094 splice donor variant CAGATCTGTCTTTGGAGGATCTGGACACTCAGCAGAGAAATAAGGTGCCGAACTTCTGCCTCCACTGCTGTCAGAAGATGGCTTTGGAGGTTGAGCATGCTGTCTGTAAGTAGCACTTTTAGGAGTCCAACAAAACAGGTTGATAGATTCTCTCACACAGCGTTCAATGTCAATTTC/- delins
CUI: C0549629
Disease: Abnormal delivery
Abnormal delivery 		0.700 0
dbSNP: rs1560755661
rs1560755661 		0.701 0.480 4 106171094 splice donor variant CAGATCTGTCTTTGGAGGATCTGGACACTCAGCAGAGAAATAAGGTGCCGAACTTCTGCCTCCACTGCTGTCAGAAGATGGCTTTGGAGGTTGAGCATGCTGTCTGTAAGTAGCACTTTTAGGAGTCCAACAAAACAGGTTGATAGATTCTCTCACACAGCGTTCAATGTCAATTTC/- delins
CUI: C2674608
Disease: Feeding difficulties in infancy
Feeding difficulties in infancy 		0.700 0
dbSNP: rs1560755661
rs1560755661 		0.701 0.480 4 106171094 splice donor variant CAGATCTGTCTTTGGAGGATCTGGACACTCAGCAGAGAAATAAGGTGCCGAACTTCTGCCTCCACTGCTGTCAGAAGATGGCTTTGGAGGTTGAGCATGCTGTCTGTAAGTAGCACTTTTAGGAGTCCAACAAAACAGGTTGATAGATTCTCTCACACAGCGTTCAATGTCAATTTC/- delins
CUI: C1839758
Disease: Narrow forehead
Narrow forehead 		0.700 0
dbSNP: rs1560755661
rs1560755661 		0.701 0.480 4 106171094 splice donor variant CAGATCTGTCTTTGGAGGATCTGGACACTCAGCAGAGAAATAAGGTGCCGAACTTCTGCCTCCACTGCTGTCAGAAGATGGCTTTGGAGGTTGAGCATGCTGTCTGTAAGTAGCACTTTTAGGAGTCCAACAAAACAGGTTGATAGATTCTCTCACACAGCGTTCAATGTCAATTTC/- delins
CUI: C0151526
Disease: Premature Birth
Premature Birth 		Female Urogenital Diseases and Pregnancy Complications 0.700 0
dbSNP: rs1560755661
rs1560755661 		0.701 0.480 4 106171094 splice donor variant CAGATCTGTCTTTGGAGGATCTGGACACTCAGCAGAGAAATAAGGTGCCGAACTTCTGCCTCCACTGCTGTCAGAAGATGGCTTTGGAGGTTGAGCATGCTGTCTGTAAGTAGCACTTTTAGGAGTCCAACAAAACAGGTTGATAGATTCTCTCACACAGCGTTCAATGTCAATTTC/- delins
CUI: C4281993
Disease: Neonatal respiratory distress
Neonatal respiratory distress 		Respiratory Tract Diseases 0.700 0
dbSNP: rs1560755661
rs1560755661 		0.701 0.480 4 106171094 splice donor variant CAGATCTGTCTTTGGAGGATCTGGACACTCAGCAGAGAAATAAGGTGCCGAACTTCTGCCTCCACTGCTGTCAGAAGATGGCTTTGGAGGTTGAGCATGCTGTCTGTAAGTAGCACTTTTAGGAGTCCAACAAAACAGGTTGATAGATTCTCTCACACAGCGTTCAATGTCAATTTC/- delins
CUI: C0549400
Disease: Low APGAR score
Low APGAR score 		0.700 0
dbSNP: rs1560755661
rs1560755661 		0.701 0.480 4 106171094 splice donor variant CAGATCTGTCTTTGGAGGATCTGGACACTCAGCAGAGAAATAAGGTGCCGAACTTCTGCCTCCACTGCTGTCAGAAGATGGCTTTGGAGGTTGAGCATGCTGTCTGTAAGTAGCACTTTTAGGAGTCCAACAAAACAGGTTGATAGATTCTCTCACACAGCGTTCAATGTCAATTTC/- delins
CUI: C0700078
Disease: Decreased tendon reflex
Decreased tendon reflex 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 0
dbSNP: rs1560755661
rs1560755661 		0.701 0.480 4 106171094 splice donor variant CAGATCTGTCTTTGGAGGATCTGGACACTCAGCAGAGAAATAAGGTGCCGAACTTCTGCCTCCACTGCTGTCAGAAGATGGCTTTGGAGGTTGAGCATGCTGTCTGTAAGTAGCACTTTTAGGAGTCCAACAAAACAGGTTGATAGATTCTCTCACACAGCGTTCAATGTCAATTTC/- delins
CUI: C0746674
Disease: Generalized muscle weakness
Generalized muscle weakness 		Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases 0.700 0
dbSNP: rs1560755661
rs1560755661 		0.701 0.480 4 106171094 splice donor variant CAGATCTGTCTTTGGAGGATCTGGACACTCAGCAGAGAAATAAGGTGCCGAACTTCTGCCTCCACTGCTGTCAGAAGATGGCTTTGGAGGTTGAGCATGCTGTCTGTAAGTAGCACTTTTAGGAGTCCAACAAAACAGGTTGATAGATTCTCTCACACAGCGTTCAATGTCAATTTC/- delins
CUI: C4317146
Disease: Acid reflux
Acid reflux 		0.700 0