Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1555742148
rs1555742148
ASXL3
CUI: C3809650
Disease: BAINBRIDGE-ROPERS SYNDROME
BAINBRIDGE-ROPERS SYNDROME 		CT 0.700 CausalMutation CLINVAR

dbSNP: rs1179499890
rs1179499890
ASXL3
CUI: C3809650
Disease: BAINBRIDGE-ROPERS SYNDROME
BAINBRIDGE-ROPERS SYNDROME 		T 0.700 CausalMutation CLINVAR

dbSNP: rs1131691668
rs1131691668
ASXL3
CUI: C3809650
Disease: BAINBRIDGE-ROPERS SYNDROME
BAINBRIDGE-ROPERS SYNDROME 		T 0.700 CausalMutation CLINVAR

dbSNP: rs1064793765
rs1064793765
ASXL3
CUI: C3809650
Disease: BAINBRIDGE-ROPERS SYNDROME
BAINBRIDGE-ROPERS SYNDROME 		T 0.700 CausalMutation CLINVAR

dbSNP: rs1060499602
rs1060499602
ASXL3
CUI: C3809650
Disease: BAINBRIDGE-ROPERS SYNDROME
BAINBRIDGE-ROPERS SYNDROME 		T 0.700 GeneticVariation CLINVAR

dbSNP: rs1057519498
rs1057519498
ASXL3
CUI: C3809650
Disease: BAINBRIDGE-ROPERS SYNDROME
BAINBRIDGE-ROPERS SYNDROME 		TC 0.700 CausalMutation CLINVAR

dbSNP: rs1555743003
rs1555743003
ASXL3
CUI: C1867131
Disease: Broad hallux
Broad hallux 		A 0.700 CausalMutation CLINVAR Novel splicing mutation in the ASXL3 gene causing Bainbridge-Ropers syndrome. 27075689

2016
dbSNP: rs1555743003
rs1555743003
ASXL3
CUI: C0426891
Disease: Broad thumbs
Broad thumbs 		A 0.700 CausalMutation CLINVAR Novel splicing mutation in the ASXL3 gene causing Bainbridge-Ropers syndrome. 27075689

2016
dbSNP: rs1555743003
rs1555743003
ASXL3
CUI: C0856863
Disease: Broad-based gait
Broad-based gait 		A 0.700 CausalMutation CLINVAR Novel splicing mutation in the ASXL3 gene causing Bainbridge-Ropers syndrome. 27075689

2016
dbSNP: rs1568359734
rs1568359734
ASXL3
CUI: C0221263
Disease: Cafe-au-Lait Spots
Cafe-au-Lait Spots 		G 0.700 CausalMutation CLINVAR

dbSNP: rs1555743003
rs1555743003
ASXL3
CUI: C0018777
Disease: Conductive hearing loss
Conductive hearing loss 		A 0.700 CausalMutation CLINVAR Novel splicing mutation in the ASXL3 gene causing Bainbridge-Ropers syndrome. 27075689

2016
dbSNP: rs1555743003
rs1555743003
ASXL3
CUI: C0240538
Disease: Convex nasal ridge
Convex nasal ridge 		A 0.700 CausalMutation CLINVAR Novel splicing mutation in the ASXL3 gene causing Bainbridge-Ropers syndrome. 27075689

2016
dbSNP: rs1555743003
rs1555743003
ASXL3
CUI: C1845447
Disease: Cupped ears (finding)
Cupped ears (finding) 		A 0.700 CausalMutation CLINVAR Novel splicing mutation in the ASXL3 gene causing Bainbridge-Ropers syndrome. 27075689

2016
dbSNP: rs377619533
rs377619533
ASXL3
CUI: C2677650
Disease: Decreased activity of mitochondrial complex I
Decreased activity of mitochondrial complex I 		A 0.700 GeneticVariation CLINVAR

dbSNP: rs1555743003
rs1555743003
ASXL3
CUI: C0034012
Disease: Delayed Puberty
Delayed Puberty 		A 0.700 CausalMutation CLINVAR Novel splicing mutation in the ASXL3 gene causing Bainbridge-Ropers syndrome. 27075689

2016
dbSNP: rs869312696
rs869312696
ASXL3
CUI: C0424503
Disease: Dysmorphic facies
Dysmorphic facies 		A 0.700 CausalMutation CLINVAR

dbSNP: rs1555743005
rs1555743005
ASXL3
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		A 0.700 GeneticVariation CLINVAR De novo frameshift mutation in ASXL3 in a patient with global developmental delay, microcephaly, and craniofacial anomalies. 24044690

2013
dbSNP: rs1555743005
rs1555743005
ASXL3
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		A 0.700 GeneticVariation CLINVAR Bainbridge-Ropers syndrome caused by loss-of-function variants in ASXL3: a recognizable condition. 27901041

2017
dbSNP: rs1555743005
rs1555743005
ASXL3
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		A 0.700 GeneticVariation CLINVAR De novo dominant ASXL3 mutations alter H2A deubiquitination and transcription in Bainbridge-Ropers syndrome. 26647312

2016
dbSNP: rs1555743005
rs1555743005
ASXL3
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		A 0.700 GeneticVariation CLINVAR Novel splicing mutation in the ASXL3 gene causing Bainbridge-Ropers syndrome. 27075689

2016
dbSNP: rs1555743005
rs1555743005
ASXL3
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		A 0.700 GeneticVariation CLINVAR Hyperventilation-athetosis in ASXL3 deficiency (Bainbridge-Ropers) syndrome. 28955728

2017
dbSNP: rs1555743005
rs1555743005
ASXL3
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		A 0.700 GeneticVariation CLINVAR Synaptic, transcriptional and chromatin genes disrupted in autism. 25363760

2014
dbSNP: rs1555743005
rs1555743005
ASXL3
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		A 0.700 GeneticVariation 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: rs1555743005
rs1555743005
ASXL3
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		A 0.700 GeneticVariation CLINVAR De novo truncating mutations in ASXL3 are associated with a novel clinical phenotype with similarities to Bohring-Opitz syndrome. 23383720

2013
dbSNP: rs1555743005
rs1555743005
ASXL3
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		A 0.700 GeneticVariation CLINVAR De novo nonsense mutations in ASXL1 cause Bohring-Opitz syndrome. 21706002

2011