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: rs1556617455
rs1556617455
1.000 0.280 X 136002214 splice donor variant G/A snv
Mental Retardation, X-Linked, Syndromic, Christianson Type
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms 0.700 1.000 1 2008 2008
dbSNP: rs1057519394
rs1057519394
1.000 0.280 X 136002195 frameshift variant T/- delins
Mental Retardation, X-Linked, Syndromic, Christianson Type
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms 0.700 0
dbSNP: rs122461162
rs122461162
1.000 0.280 X 136024365 stop gained C/T snv
Mental Retardation, X-Linked, Syndromic, Christianson Type
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms 0.700 0
dbSNP: rs1569525357
rs1569525357
1.000 0.280 X 136024339 missense variant G/A snv
Mental Retardation, X-Linked, Syndromic, Christianson Type
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms 0.700 0
dbSNP: rs398122849
rs398122849
1.000 0.280 X 136010554 inframe deletion GGTGCTGCT/- del
Mental Retardation, X-Linked, Syndromic, Christianson Type
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms 0.700 0
dbSNP: rs398123003
rs398123003
1.000 0.280 X 136030154 stop gained G/T snv
Mental Retardation, X-Linked, Syndromic, Christianson Type
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms 0.700 0
dbSNP: rs587784398
rs587784398
1.000 0.280 X 135985685 frameshift variant G/- del
Mental Retardation, X-Linked, Syndromic, Christianson Type
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms 0.700 0
dbSNP: rs587784399
rs587784399
1.000 0.280 X 136044696 stop gained T/G snv
Mental Retardation, X-Linked, Syndromic, Christianson Type
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms 0.700 0
dbSNP: rs730882187
rs730882187
1.000 0.280 X 135998188 splice region variant AA/CC mnv
Mental Retardation, X-Linked, Syndromic, Christianson Type
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms 0.700 0
dbSNP: rs730882188
rs730882188
1.000 0.280 X 135998486 frameshift variant AT/- del
Mental Retardation, X-Linked, Syndromic, Christianson Type
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms 0.700 0
dbSNP: rs796053290
rs796053290
0.925 0.280 X 135998095 splice region variant TTTTA/- delins
Mental Retardation, X-Linked, Syndromic, Christianson Type
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms 0.700 0
dbSNP: rs886037619
rs886037619
1.000 0.280 X 136002171 inframe deletion AAAGTG/- delins
Mental Retardation, X-Linked, Syndromic, Christianson Type
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms 0.700 0
dbSNP: rs398124224
rs398124224
1.000 0.280 X 136012979 stop gained C/T snv
Mental Retardation, X-Linked, Syndromic, Christianson Type
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms 0.010 1.000 1 2013 2013