Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1555742500
rs1555742500
ASXL3
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		T 0.700 CausalMutation CLINVAR Synaptic, transcriptional and chromatin genes disrupted in autism. 25363760

2014
dbSNP: rs1555742500
rs1555742500
ASXL3
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		T 0.700 CausalMutation CLINVAR Hyperventilation-athetosis in ASXL3 deficiency (Bainbridge-Ropers) syndrome. 28955728

2017
dbSNP: rs1555742500
rs1555742500
ASXL3
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		T 0.700 CausalMutation CLINVAR De novo truncating mutations in ASXL3 are associated with a novel clinical phenotype with similarities to Bohring-Opitz syndrome. 23383720

2013
dbSNP: rs1555742500
rs1555742500
ASXL3
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		T 0.700 CausalMutation CLINVAR De novo dominant ASXL3 mutations alter H2A deubiquitination and transcription in Bainbridge-Ropers syndrome. 26647312

2016
dbSNP: rs1555742500
rs1555742500
ASXL3
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		T 0.700 CausalMutation CLINVAR De novo nonsense mutations in ASXL1 cause Bohring-Opitz syndrome. 21706002

2011
dbSNP: rs1555742500
rs1555742500
ASXL3
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		T 0.700 CausalMutation CLINVAR De novo frameshift mutation in ASXL3 in a patient with global developmental delay, microcephaly, and craniofacial anomalies. 24044690

2013
dbSNP: rs1555742500
rs1555742500
ASXL3
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		T 0.700 CausalMutation CLINVAR Delineating the phenotypic spectrum of Bainbridge-Ropers syndrome: 12 new patients with de novo, heterozygous, loss-of-function mutations in ASXL3 and review of published literature. 28100473

2017
dbSNP: rs1555742500
rs1555742500
ASXL3
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		T 0.700 CausalMutation CLINVAR Novel splicing mutation in the ASXL3 gene causing Bainbridge-Ropers syndrome. 27075689

2016
dbSNP: rs1555742500
rs1555742500
ASXL3
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		T 0.700 CausalMutation CLINVAR Bainbridge-Ropers syndrome caused by loss-of-function variants in ASXL3: a recognizable condition. 27901041

2017
dbSNP: rs1555742087
rs1555742087
ASXL3
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		A 0.700 CausalMutation CLINVAR Novel splicing mutation in the ASXL3 gene causing Bainbridge-Ropers syndrome. 27075689

2016
dbSNP: rs1555742087
rs1555742087
ASXL3
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		A 0.700 CausalMutation CLINVAR Delineating the phenotypic spectrum of Bainbridge-Ropers syndrome: 12 new patients with de novo, heterozygous, loss-of-function mutations in ASXL3 and review of published literature. 28100473

2017
dbSNP: rs1555742087
rs1555742087
ASXL3
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		A 0.700 CausalMutation CLINVAR De novo nonsense mutations in ASXL1 cause Bohring-Opitz syndrome. 21706002

2011
dbSNP: rs1555742087
rs1555742087
ASXL3
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		A 0.700 CausalMutation CLINVAR De novo truncating mutations in ASXL3 are associated with a novel clinical phenotype with similarities to Bohring-Opitz syndrome. 23383720

2013
dbSNP: rs1555742087
rs1555742087
ASXL3
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		A 0.700 CausalMutation CLINVAR Bainbridge-Ropers syndrome caused by loss-of-function variants in ASXL3: a recognizable condition. 27901041

2017
dbSNP: rs1555742087
rs1555742087
ASXL3
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		A 0.700 CausalMutation CLINVAR De novo dominant ASXL3 mutations alter H2A deubiquitination and transcription in Bainbridge-Ropers syndrome. 26647312

2016
dbSNP: rs1555742087
rs1555742087
ASXL3
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		A 0.700 CausalMutation CLINVAR De novo frameshift mutation in ASXL3 in a patient with global developmental delay, microcephaly, and craniofacial anomalies. 24044690

2013
dbSNP: rs1555742087
rs1555742087
ASXL3
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		A 0.700 CausalMutation CLINVAR Hyperventilation-athetosis in ASXL3 deficiency (Bainbridge-Ropers) syndrome. 28955728

2017
dbSNP: rs1555742087
rs1555742087
ASXL3
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		A 0.700 CausalMutation CLINVAR Synaptic, transcriptional and chromatin genes disrupted in autism. 25363760

2014
dbSNP: rs1568359734
rs1568359734
ASXL3
CUI: C0014877
Disease: Esotropia
Esotropia 		G 0.700 CausalMutation CLINVAR

dbSNP: rs1568359734
rs1568359734
ASXL3
CUI: C0454641
Disease: Expressive language delay
Expressive language delay 		G 0.700 CausalMutation CLINVAR

dbSNP: rs1555743003
rs1555743003
ASXL3
CUI: C4023801
Disease: Fibular bowing
Fibular bowing 		A 0.700 CausalMutation CLINVAR Novel splicing mutation in the ASXL3 gene causing Bainbridge-Ropers syndrome. 27075689

2016
dbSNP: rs1555743003
rs1555743003
ASXL3
CUI: C0016202
Disease: Flatfoot
Flatfoot 		A 0.700 CausalMutation CLINVAR Novel splicing mutation in the ASXL3 gene causing Bainbridge-Ropers syndrome. 27075689

2016
dbSNP: rs1555743003
rs1555743003
ASXL3
CUI: C0333068
Disease: Flexion contracture
Flexion contracture 		A 0.700 CausalMutation CLINVAR Novel splicing mutation in the ASXL3 gene causing Bainbridge-Ropers syndrome. 27075689

2016
dbSNP: rs1555743003
rs1555743003
ASXL3
CUI: C0409348
Disease: Flexion contracture of proximal interphalangeal joint
Flexion contracture of proximal interphalangeal joint 		A 0.700 CausalMutation CLINVAR Novel splicing mutation in the ASXL3 gene causing Bainbridge-Ropers syndrome. 27075689

2016
dbSNP: rs1555743003
rs1555743003
ASXL3
CUI: C0231688
Disease: Gait, Shuffling
Gait, Shuffling 		A 0.700 CausalMutation CLINVAR Novel splicing mutation in the ASXL3 gene causing Bainbridge-Ropers syndrome. 27075689

2016