Disease: Kleefstra syndrome ×
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: rs121918301
rs121918301 		0.925 0.280 9 137818100 stop gained C/T snv
CUI: C4551771
Disease: Kleefstra syndrome
Kleefstra syndrome 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms 0.700 0
dbSNP: rs137852714
rs137852714 		0.925 0.280 9 137743418 stop gained C/A;T snv 1.2E-05
CUI: C4551771
Disease: Kleefstra syndrome
Kleefstra syndrome 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms 0.700 0
dbSNP: rs137852717
rs137852717 		1.000 0.160 9 137776636 stop gained C/T snv
CUI: C4551771
Disease: Kleefstra syndrome
Kleefstra syndrome 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms 0.700 0
dbSNP: rs137852718
rs137852718 		1.000 0.160 9 137776684 stop gained C/A;T snv 9.9E-05
CUI: C4551771
Disease: Kleefstra syndrome
Kleefstra syndrome 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms 0.700 0
dbSNP: rs137852720
rs137852720 		0.925 0.160 9 137779634 splice acceptor variant G/C snv
CUI: C4551771
Disease: Kleefstra syndrome
Kleefstra syndrome 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms 0.700 0
dbSNP: rs137852721
rs137852721 		1.000 0.160 9 137811608 frameshift variant GT/- delins
CUI: C4551771
Disease: Kleefstra syndrome
Kleefstra syndrome 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms 0.700 0
dbSNP: rs137852725
rs137852725 		1.000 0.160 9 137814479 stop gained C/T snv
CUI: C4551771
Disease: Kleefstra syndrome
Kleefstra syndrome 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms 0.700 0
dbSNP: rs137852726
rs137852726 		0.925 0.280 9 137814468 missense variant G/A snv
CUI: C4551771
Disease: Kleefstra syndrome
Kleefstra syndrome 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms 0.700 0
dbSNP: rs137852727
rs137852727 		0.925 0.280 9 137834397 missense variant C/T snv
CUI: C4551771
Disease: Kleefstra syndrome
Kleefstra syndrome 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms 0.700 0
dbSNP: rs1554908290
rs1554908290 		1.000 0.160 9 137834390 inframe deletion GTCAGCCGGTTC/- delins
CUI: C4551771
Disease: Kleefstra syndrome
Kleefstra syndrome 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms 0.700 0
dbSNP: rs587780332
rs587780332 		0.925 0.280 9 137790891 missense variant C/T snv
CUI: C4551771
Disease: Kleefstra syndrome
Kleefstra syndrome 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms 0.010 1.000 1 2017 2017