Gene: ARID1B ×
Source: CLINVAR ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1554231814
rs1554231814
ARID1B
G 0.700 CausalMutation CLINVAR De novo missense variants in HECW2 are associated with neurodevelopmental delay and hypotonia. 27389779

2017
dbSNP: rs1554231814
rs1554231814
ARID1B
G 0.700 CausalMutation CLINVAR Arid1b Haploinsufficiency Causes Abnormal Brain Gene Expression and Autism-Related Behaviors in Mice. 28867767

2017
dbSNP: rs1554234424
rs1554234424
ARID1B
A 0.700 CausalMutation CLINVAR Arid1b Haploinsufficiency Causes Abnormal Brain Gene Expression and Autism-Related Behaviors in Mice. 28867767

2017
dbSNP: rs1554234424
rs1554234424
ARID1B
A 0.700 CausalMutation CLINVAR De novo missense variants in HECW2 are associated with neurodevelopmental delay and hypotonia. 27389779

2017
dbSNP: rs1554236054
rs1554236054
ARID1B
AG 0.700 CausalMutation CLINVAR Arid1b Haploinsufficiency Causes Abnormal Brain Gene Expression and Autism-Related Behaviors in Mice. 28867767

2017
dbSNP: rs1554236054
rs1554236054
ARID1B
AG 0.700 CausalMutation CLINVAR De novo missense variants in HECW2 are associated with neurodevelopmental delay and hypotonia. 27389779

2017
dbSNP: rs797045282
rs797045282
ARID1B
T 0.700 CausalMutation CLINVAR Arid1b Haploinsufficiency Causes Abnormal Brain Gene Expression and Autism-Related Behaviors in Mice. 28867767

2017
dbSNP: rs797045282
rs797045282
ARID1B
T 0.700 CausalMutation CLINVAR De novo missense variants in HECW2 are associated with neurodevelopmental delay and hypotonia. 27389779

2017
dbSNP: rs1554231814
rs1554231814
ARID1B
G 0.700 CausalMutation CLINVAR Gonadal mosaicism in ARID1B gene causes intellectual disability and dysmorphic features in three siblings. 26395437

2016
dbSNP: rs1554234424
rs1554234424
ARID1B
A 0.700 CausalMutation CLINVAR Gonadal mosaicism in ARID1B gene causes intellectual disability and dysmorphic features in three siblings. 26395437

2016
dbSNP: rs1554236054
rs1554236054
ARID1B
AG 0.700 CausalMutation CLINVAR Gonadal mosaicism in ARID1B gene causes intellectual disability and dysmorphic features in three siblings. 26395437

2016
dbSNP: rs797045282
rs797045282
ARID1B
T 0.700 CausalMutation CLINVAR Gonadal mosaicism in ARID1B gene causes intellectual disability and dysmorphic features in three siblings. 26395437

2016
dbSNP: rs1554231814
rs1554231814
ARID1B
G 0.700 CausalMutation CLINVAR ARID1B-mediated disorders: Mutations and possible mechanisms. 25674384

2015
dbSNP: rs1554231814
rs1554231814
ARID1B
G 0.700 CausalMutation CLINVAR De novo mutations in ARID1B associated with both syndromic and non-syndromic short stature. 26376624

2015
dbSNP: rs1554234424
rs1554234424
ARID1B
A 0.700 CausalMutation CLINVAR De novo mutations in ARID1B associated with both syndromic and non-syndromic short stature. 26376624

2015
dbSNP: rs1554234424
rs1554234424
ARID1B
A 0.700 CausalMutation CLINVAR ARID1B-mediated disorders: Mutations and possible mechanisms. 25674384

2015
dbSNP: rs1554236054
rs1554236054
ARID1B
AG 0.700 CausalMutation CLINVAR ARID1B-mediated disorders: Mutations and possible mechanisms. 25674384

2015
dbSNP: rs1554236054
rs1554236054
ARID1B
AG 0.700 CausalMutation CLINVAR De novo mutations in ARID1B associated with both syndromic and non-syndromic short stature. 26376624

2015
dbSNP: rs797044859
rs797044859
ARID1B
C 0.700 CausalMutation CLINVAR Enhanced utility of family-centered diagnostic exome sequencing with inheritance model-based analysis: results from 500 unselected families with undiagnosed genetic conditions. 25356970

2015
dbSNP: rs797045282
rs797045282
ARID1B
T 0.700 CausalMutation CLINVAR De novo mutations in ARID1B associated with both syndromic and non-syndromic short stature. 26376624

2015
dbSNP: rs797045282
rs797045282
ARID1B
T 0.700 CausalMutation CLINVAR ARID1B-mediated disorders: Mutations and possible mechanisms. 25674384

2015
dbSNP: rs1554231814
rs1554231814
ARID1B
G 0.700 CausalMutation CLINVAR The ARID1B phenotype: what we have learned so far. 25169814

2014
dbSNP: rs1554231814
rs1554231814
ARID1B
G 0.700 CausalMutation CLINVAR The contribution of de novo coding mutations to autism spectrum disorder. 25363768

2014
dbSNP: rs1554231814
rs1554231814
ARID1B
G 0.700 CausalMutation CLINVAR Coffin-Siris Syndrome with obesity, macrocephaly, hepatomegaly and hyperinsulinism caused by a mutation in the ARID1B gene. 24569609

2014
dbSNP: rs1554231814
rs1554231814
ARID1B
G 0.700 CausalMutation CLINVAR Expanding the phenotypic spectrum of ARID1B-mediated disorders and identification of altered cell-cycle dynamics due to ARID1B haploinsufficiency. 24674232

2014