KAT6B, lysine acetyltransferase 6B, 23522

N. diseases: 208; N. variants: 27
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: rs1554845880
rs1554845880 		1.000 0.360 10 75029376 frameshift variant -/GA delins
CUI: C1863557
Disease: Young Simpson syndrome
Young Simpson syndrome 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Musculoskeletal Diseases; Nervous System Diseases; Endocrine System Diseases; Mental Disorders; Behavior and Behavior Mechanisms; Cardiovascular Diseases 0.700 0
dbSNP: rs1554845902
rs1554845902 		1.000 0.360 10 75029406 frameshift variant A/- delins
CUI: C1863557
Disease: Young Simpson syndrome
Young Simpson syndrome 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Musculoskeletal Diseases; Nervous System Diseases; Endocrine System Diseases; Mental Disorders; Behavior and Behavior Mechanisms; Cardiovascular Diseases 0.700 0
dbSNP: rs1554846212
rs1554846212 		0.851 0.160 10 75030037 missense variant C/T snv
CUI: C1843367
Disease: Poor school performance
Poor school performance 		0.700 0
dbSNP: rs1554846212
rs1554846212 		0.851 0.160 10 75030037 missense variant C/T snv
CUI: C4021771
Disease: Short distal phalanx of toe
Short distal phalanx of toe 		0.700 0
dbSNP: rs1554846212
rs1554846212 		0.851 0.160 10 75030037 missense variant C/T snv
CUI: C0424503
Disease: Dysmorphic facies
Dysmorphic facies 		0.700 0
dbSNP: rs1554846212
rs1554846212 		0.851 0.160 10 75030037 missense variant C/T snv
CUI: C0009081
Disease: Congenital clubfoot
Congenital clubfoot 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 0
dbSNP: rs1554846212
rs1554846212 		0.851 0.160 10 75030037 missense variant C/T snv
CUI: C0020534
Disease: Orbital separation excessive
Orbital separation excessive 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 0
dbSNP: rs1554846212
rs1554846212 		0.851 0.160 10 75030037 missense variant C/T snv
CUI: C0010417
Disease: Cryptorchidism
Cryptorchidism 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Male Urogenital Diseases; Endocrine System Diseases 0.700 0
dbSNP: rs1554846212
rs1554846212 		0.851 0.160 10 75030037 missense variant C/T snv
CUI: C0426886
Disease: Tapering fingers (finding)
Tapering fingers (finding) 		0.700 0
dbSNP: rs1554846212
rs1554846212 		0.851 0.160 10 75030037 missense variant C/T snv
CUI: C1854114
Disease: Short nose
Short nose 		0.700 0
dbSNP: rs1554846212
rs1554846212 		0.851 0.160 10 75030037 missense variant C/T snv
CUI: C0575157
Disease: Deformity of spine
Deformity of spine 		0.700 0
dbSNP: rs1564606246
rs1564606246 		1.000 0.280 10 74985114 frameshift variant ACCTT/- del
CUI: C0220687
Disease: KBG syndrome
KBG syndrome 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders; Stomatognathic Diseases; Behavior and Behavior Mechanisms 0.700 0
dbSNP: rs1564628365
rs1564628365 		1.000 0.320 10 75025166 frameshift variant A/- del
CUI: C1853566
Disease: Genitopatellar Syndrome
Genitopatellar Syndrome 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Musculoskeletal Diseases; Male Urogenital Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms 0.700 0
dbSNP: rs199470468
rs199470468 		1.000 0.360 10 75021280 frameshift variant A/- delins
CUI: C1863557
Disease: Young Simpson syndrome
Young Simpson syndrome 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Musculoskeletal Diseases; Nervous System Diseases; Endocrine System Diseases; Mental Disorders; Behavior and Behavior Mechanisms; Cardiovascular Diseases 0.700 0
dbSNP: rs199470469
rs199470469 		1.000 0.320 10 75028504 frameshift variant TTCAAGTAACTTGAAA/- delins
CUI: C1853566
Disease: Genitopatellar Syndrome
Genitopatellar Syndrome 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Musculoskeletal Diseases; Male Urogenital Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms 0.700 0
dbSNP: rs199470470
rs199470470 		1.000 0.320 10 75028589 frameshift variant TCTA/- delins
CUI: C1853566
Disease: Genitopatellar Syndrome
Genitopatellar Syndrome 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Musculoskeletal Diseases; Male Urogenital Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms 0.700 0
dbSNP: rs199470472
rs199470472 		1.000 0.320 10 75028611 frameshift variant AA/- delins
CUI: C1853566
Disease: Genitopatellar Syndrome
Genitopatellar Syndrome 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Musculoskeletal Diseases; Male Urogenital Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms 0.700 0
dbSNP: rs199470473
rs199470473 		1.000 0.320 10 75028626 stop gained G/A;T snv 8.0E-06
CUI: C1853566
Disease: Genitopatellar Syndrome
Genitopatellar Syndrome 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Musculoskeletal Diseases; Male Urogenital Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms 0.700 0
dbSNP: rs199470475
rs199470475 		1.000 0.320 10 75028716 stop gained G/T snv
CUI: C1853566
Disease: Genitopatellar Syndrome
Genitopatellar Syndrome 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Musculoskeletal Diseases; Male Urogenital Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms 0.700 0
dbSNP: rs199470476
rs199470476 		1.000 0.360 10 75028893 stop gained G/T snv
CUI: C1863557
Disease: Young Simpson syndrome
Young Simpson syndrome 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Musculoskeletal Diseases; Nervous System Diseases; Endocrine System Diseases; Mental Disorders; Behavior and Behavior Mechanisms; Cardiovascular Diseases 0.700 0
dbSNP: rs199470478
rs199470478 		1.000 0.320 10 75029184 frameshift variant GAAAACCAG/AAAAACCAAAA delins
CUI: C1853566
Disease: Genitopatellar Syndrome
Genitopatellar Syndrome 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Musculoskeletal Diseases; Male Urogenital Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms 0.700 0
dbSNP: rs199470479
rs199470479 		1.000 0.360 10 75029228 frameshift variant -/T delins
CUI: C1863557
Disease: Young Simpson syndrome
Young Simpson syndrome 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Musculoskeletal Diseases; Nervous System Diseases; Endocrine System Diseases; Mental Disorders; Behavior and Behavior Mechanisms; Cardiovascular Diseases 0.700 0
dbSNP: rs199470482
rs199470482 		0.925 0.440 10 75030015 frameshift variant -/TGCTGCAGCA delins
CUI: C1853566
Disease: Genitopatellar Syndrome
Genitopatellar Syndrome 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Musculoskeletal Diseases; Male Urogenital Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms 0.700 0
dbSNP: rs199470483
rs199470483 		1.000 0.360 10 75030192 frameshift variant -/CAAC delins
CUI: C1863557
Disease: Young Simpson syndrome
Young Simpson syndrome 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Musculoskeletal Diseases; Nervous System Diseases; Endocrine System Diseases; Mental Disorders; Behavior and Behavior Mechanisms; Cardiovascular Diseases 0.700 0
dbSNP: rs199470484
rs199470484 		1.000 0.360 10 75030213 stop gained C/T snv
CUI: C1863557
Disease: Young Simpson syndrome
Young Simpson syndrome 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Musculoskeletal Diseases; Nervous System Diseases; Endocrine System Diseases; Mental Disorders; Behavior and Behavior Mechanisms; Cardiovascular Diseases 0.700 0