KAT6A, lysine acetyltransferase 6A, 7994

N. diseases: 129; N. variants: 13
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: rs786200952
rs786200952 		0.851 0.120 8 41934340 frameshift variant -/T delins
CUI: C1850049
Disease: Clinodactyly of the 5th finger
Clinodactyly of the 5th finger 		0.700 1.000 1 2015 2015
dbSNP: rs786200952
rs786200952 		0.851 0.120 8 41934340 frameshift variant -/T delins
CUI: C0454644
Disease: Delayed speech and language development
Delayed speech and language development 		Behavior and Behavior Mechanisms 0.700 1.000 1 2015 2015
dbSNP: rs786200952
rs786200952 		0.851 0.120 8 41934340 frameshift variant -/T delins
CUI: C0240543
Disease: Bulbous nose
Bulbous nose 		0.700 1.000 1 2015 2015
dbSNP: rs786200952
rs786200952 		0.851 0.120 8 41934340 frameshift variant -/T delins
CUI: C4551563
Disease: Microcephaly (physical finding)
Microcephaly (physical finding) 		0.700 1.000 1 2015 2015
dbSNP: rs786200952
rs786200952 		0.851 0.120 8 41934340 frameshift variant -/T delins
CUI: C1843367
Disease: Poor school performance
Poor school performance 		0.700 1.000 1 2015 2015
dbSNP: rs786200952
rs786200952 		0.851 0.120 8 41934340 frameshift variant -/T delins
CUI: C0232466
Disease: Feeding difficulties
Feeding difficulties 		0.700 1.000 1 2015 2015
dbSNP: rs786200952
rs786200952 		0.851 0.120 8 41934340 frameshift variant -/T delins
CUI: C1839758
Disease: Narrow forehead
Narrow forehead 		0.700 1.000 1 2015 2015
dbSNP: rs786200952
rs786200952 		0.851 0.120 8 41934340 frameshift variant -/T delins
CUI: C0018916
Disease: Hemangioma
Hemangioma 		Neoplasms 0.700 1.000 1 2015 2015
dbSNP: rs786200952
rs786200952 		0.851 0.120 8 41934340 frameshift variant -/T delins
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 1.000 1 2015 2015
dbSNP: rs786200952
rs786200952 		0.851 0.120 8 41934340 frameshift variant -/T delins
CUI: C4021866
Disease: obsolete Abnormal heart morphology
obsolete Abnormal heart morphology 		0.700 1.000 1 2015 2015
dbSNP: rs786200952
rs786200952 		0.851 0.120 8 41934340 frameshift variant -/T delins
CUI: C0010278
Disease: Craniosynostosis
Craniosynostosis 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 1.000 1 2015 2015
dbSNP: rs786200952
rs786200952 		0.851 0.120 8 41934340 frameshift variant -/T delins
CUI: C1827524
Disease: Wide spaced nipples
Wide spaced nipples 		0.700 1.000 1 2015 2015
dbSNP: rs1057516049
rs1057516049 		0.851 0.040 8 41933963 frameshift variant CACT/- delins
CUI: C1856786
Disease: Hypoplastic fingernail
Hypoplastic fingernail 		0.700 0
dbSNP: rs1057516049
rs1057516049 		0.851 0.040 8 41933963 frameshift variant CACT/- delins
CUI: C0026838
Disease: Muscle Spasticity
Muscle Spasticity 		Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases 0.700 0
dbSNP: rs1057516049
rs1057516049 		0.851 0.040 8 41933963 frameshift variant CACT/- delins
CUI: C0240543
Disease: Bulbous nose
Bulbous nose 		0.700 0
dbSNP: rs1057516049
rs1057516049 		0.851 0.040 8 41933963 frameshift variant CACT/- delins
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.700 0
dbSNP: rs1057516049
rs1057516049 		0.851 0.040 8 41933963 frameshift variant CACT/- delins
CUI: C0266011
Disease: Accessory nipple
Accessory nipple 		Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs1057516049
rs1057516049 		0.851 0.040 8 41933963 frameshift variant CACT/- delins
CUI: C4225396
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 32
MENTAL RETARDATION, AUTOSOMAL DOMINANT 32 		0.700 0
dbSNP: rs1057516049
rs1057516049 		0.851 0.040 8 41933963 frameshift variant CACT/- delins
CUI: C0678230
Disease: Congenital Epicanthus
Congenital Epicanthus 		0.700 0
dbSNP: rs1554679726
rs1554679726 		1.000 8 41933531 frameshift variant TA/- delins
CUI: C4225396
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 32
MENTAL RETARDATION, AUTOSOMAL DOMINANT 32 		0.700 0
dbSNP: rs1554680188
rs1554680188 		1.000 8 41934624 frameshift variant C/- delins
CUI: C4225396
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 32
MENTAL RETARDATION, AUTOSOMAL DOMINANT 32 		0.700 0
dbSNP: rs1554680245
rs1554680245 		1.000 8 41934777 frameshift variant T/- delins
CUI: C4225396
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 32
MENTAL RETARDATION, AUTOSOMAL DOMINANT 32 		0.700 0
dbSNP: rs1564005155
rs1564005155 		1.000 8 41934182 frameshift variant A/- del
CUI: C4225396
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 32
MENTAL RETARDATION, AUTOSOMAL DOMINANT 32 		0.700 0
dbSNP: rs1564038389
rs1564038389 		1.000 8 41980845 splice donor variant C/- delins
CUI: C4225396
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 32
MENTAL RETARDATION, AUTOSOMAL DOMINANT 32 		0.700 0
dbSNP: rs1564038539
rs1564038539 		1.000 8 41980897 stop gained G/A snv
CUI: C4225396
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 32
MENTAL RETARDATION, AUTOSOMAL DOMINANT 32 		0.700 0