Source: CLINVAR

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs1555742087
rs1555742087
ASXL3
1.000 18 33738757 frameshift variant G/- delins
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.700 1.000 9 2011 2017
dbSNP: rs1555742087
rs1555742087
ASXL3
1.000 18 33738757 frameshift variant G/- delins
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.700 1.000 9 2011 2017
dbSNP: rs1555742500
rs1555742500
ASXL3
0.925 18 33739379 frameshift variant GACA/- delins
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.700 1.000 9 2011 2017
dbSNP: rs1555742500
rs1555742500
ASXL3
0.925 18 33739379 frameshift variant GACA/- delins
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.700 1.000 9 2011 2017
dbSNP: rs1555743005
rs1555743005
ASXL3
1.000 18 33740445 splice donor variant T/A snv
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.700 1.000 9 2011 2017
dbSNP: rs1555743005
rs1555743005
ASXL3
1.000 18 33740445 splice donor variant T/A snv
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.700 1.000 9 2011 2017
dbSNP: rs1555743003
rs1555743003
ASXL3
0.701 0.520 18 33740444 splice donor variant G/A snv
CUI: C1837397
Disease: Severe global developmental delay
Severe global developmental delay 		0.700 1.000 1 2016 2016
dbSNP: rs1555743003
rs1555743003
ASXL3
0.701 0.520 18 33740444 splice donor variant G/A snv
CUI: C4023801
Disease: Fibular bowing
Fibular bowing 		0.700 1.000 1 2016 2016
dbSNP: rs1555743003
rs1555743003
ASXL3
0.701 0.520 18 33740444 splice donor variant G/A snv
CUI: C0042024
Disease: Urinary Incontinence
Urinary Incontinence 		0.700 1.000 1 2016 2016
dbSNP: rs1555743003
rs1555743003
ASXL3
0.701 0.520 18 33740444 splice donor variant G/A snv
CUI: C1837142
Disease: Poor suck
Poor suck 		0.700 1.000 1 2016 2016
dbSNP: rs1555743003
rs1555743003
ASXL3
0.701 0.520 18 33740444 splice donor variant G/A snv
CUI: C0423112
Disease: Short palpebral fissure
Short palpebral fissure 		0.700 1.000 1 2016 2016
dbSNP: rs1555743003
rs1555743003
ASXL3
0.701 0.520 18 33740444 splice donor variant G/A snv
CUI: C0026837
Disease: Muscle Rigidity
Muscle Rigidity 		0.700 1.000 1 2016 2016
dbSNP: rs1555743003
rs1555743003
ASXL3
0.701 0.520 18 33740444 splice donor variant G/A snv
CUI: C0423109
Disease: Upward slant of palpebral fissure
Upward slant of palpebral fissure 		0.700 1.000 1 2016 2016
dbSNP: rs1555743003
rs1555743003
ASXL3
0.701 0.520 18 33740444 splice donor variant G/A snv
CUI: C0038379
Disease: Strabismus
Strabismus 		0.700 1.000 1 2016 2016
dbSNP: rs1555743003
rs1555743003
ASXL3
0.701 0.520 18 33740444 splice donor variant G/A snv
CUI: C0409348
Disease: Flexion contracture of proximal interphalangeal joint
Flexion contracture of proximal interphalangeal joint 		0.700 1.000 1 2016 2016
dbSNP: rs1555743003
rs1555743003
ASXL3
0.701 0.520 18 33740444 splice donor variant G/A snv
CUI: C0240538
Disease: Convex nasal ridge
Convex nasal ridge 		0.700 1.000 1 2016 2016
dbSNP: rs1555743003
rs1555743003
ASXL3
0.701 0.520 18 33740444 splice donor variant G/A snv
CUI: C4022447
Disease: Abnormality of the tympanic membrane
Abnormality of the tympanic membrane 		0.700 1.000 1 2016 2016
dbSNP: rs1555743003
rs1555743003
ASXL3
0.701 0.520 18 33740444 splice donor variant G/A snv
CUI: C3809650
Disease: BAINBRIDGE-ROPERS SYNDROME
BAINBRIDGE-ROPERS SYNDROME 		0.700 1.000 1 2016 2016
dbSNP: rs1555743003
rs1555743003
ASXL3
0.701 0.520 18 33740444 splice donor variant G/A snv
CUI: C0424711
Disease: Orbital separation diminished
Orbital separation diminished 		0.700 1.000 1 2016 2016
dbSNP: rs1555743003
rs1555743003
ASXL3
0.701 0.520 18 33740444 splice donor variant G/A snv
CUI: C0241521
Disease: Ulnar deviation of hand
Ulnar deviation of hand 		0.700 1.000 1 2016 2016
dbSNP: rs1555743003
rs1555743003
ASXL3
0.701 0.520 18 33740444 splice donor variant G/A snv
CUI: C1868571
Disease: Highly arched eyebrow
Highly arched eyebrow 		0.700 1.000 1 2016 2016
dbSNP: rs1555743003
rs1555743003
ASXL3
0.701 0.520 18 33740444 splice donor variant G/A snv
CUI: C0040457
Disease: Tooth, Supernumerary
Tooth, Supernumerary 		0.700 1.000 1 2016 2016
dbSNP: rs1555743003
rs1555743003
ASXL3
0.701 0.520 18 33740444 splice donor variant G/A snv
CUI: C0456070
Disease: Growth delay
Growth delay 		0.700 1.000 1 2016 2016
dbSNP: rs1555743003
rs1555743003
ASXL3
0.701 0.520 18 33740444 splice donor variant G/A snv
CUI: C4025190
Disease: Abnormal epiglottis morphology
Abnormal epiglottis morphology 		0.700 1.000 1 2016 2016
dbSNP: rs1555743003
rs1555743003
ASXL3
0.701 0.520 18 33740444 splice donor variant G/A snv
CUI: C0575158
Disease: Kyphoscoliosis deformity of spine
Kyphoscoliosis deformity of spine 		0.700 1.000 1 2016 2016