Gene: HDAC8 ×
Source: CLINVAR ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs397515417
rs397515417
HDAC8
A 0.800 CausalMutation CLINVAR Clinical exome sequencing reveals locus heterogeneity and phenotypic variability of cohesinopathies. 30158690

2019
dbSNP: rs398122909
rs398122909
HDAC8
T 0.800 CausalMutation CLINVAR Identification of Intellectual Disability Genes in Female Patients with a Skewed X-Inactivation Pattern. 27159028

2016
dbSNP: rs398122909
rs398122909
HDAC8
T 0.800 CausalMutation CLINVAR Expanding the clinical spectrum of the 'HDAC8-phenotype' - implications for molecular diagnostics, counseling and risk prediction. 26671848

2016
dbSNP: rs398122909
rs398122909
HDAC8
T 0.800 CausalMutation CLINVAR NIPBL Controls RNA Biogenesis to Prevent Activation of the Stress Kinase PKR. 26725122

2016
dbSNP: rs398122909
rs398122909
HDAC8
T 0.800 CausalMutation CLINVAR Loss-of-function HDAC8 mutations cause a phenotypic spectrum of Cornelia de Lange syndrome-like features, ocular hypertelorism, large fontanelle and X-linked inheritance. 24403048

2014
dbSNP: rs398122909
rs398122909
HDAC8
T 0.800 CausalMutation CLINVAR HDAC8 mutations in Cornelia de Lange syndrome affect the cohesin acetylation cycle. 22885700

2012
dbSNP: rs397515416
rs397515416
HDAC8
C 0.800 CausalMutation CLINVAR

dbSNP: rs397515418
rs397515418
HDAC8
C 0.800 CausalMutation CLINVAR

dbSNP: rs1556009247
rs1556009247
HDAC8
T 0.700 GeneticVariation CLINVAR Clinical exome sequencing reveals locus heterogeneity and phenotypic variability of cohesinopathies. 30158690

2019
dbSNP: rs1569316085
rs1569316085
HDAC8
A 0.700 CausalMutation CLINVAR Clinical exome sequencing reveals locus heterogeneity and phenotypic variability of cohesinopathies. 30158690

2019
dbSNP: rs1569318004
rs1569318004
HDAC8
T 0.700 GeneticVariation CLINVAR Clinical exome sequencing reveals locus heterogeneity and phenotypic variability of cohesinopathies. 30158690

2019
dbSNP: rs1057516037
rs1057516037
HDAC8
AC 0.700 GeneticVariation CLINVAR A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders. 26938784

2016
dbSNP: rs397515415
rs397515415
HDAC8
A 0.700 CausalMutation CLINVAR Molecular diagnostic experience of whole-exome sequencing in adult patients. 26633545

2016
dbSNP: rs1556007534
rs1556007534
HDAC8
A 0.700 GeneticVariation CLINVAR Large-scale discovery of novel genetic causes of developmental disorders. 25533962

2015
dbSNP: rs587779380
rs587779380
HDAC8
A 0.700 CausalMutation CLINVAR DIAMUND: direct comparison of genomes to detect mutations. 24375697

2014
dbSNP: rs397515415
rs397515415
HDAC8
A 0.700 CausalMutation CLINVAR HDAC8 mutations in Cornelia de Lange syndrome affect the cohesin acetylation cycle. 22885700

2012
dbSNP: rs1057518727
rs1057518727
HDAC8
C 0.700 GeneticVariation CLINVAR

dbSNP: rs146015223
rs146015223
HDAC8
T 0.700 CausalMutation CLINVAR

dbSNP: rs1555948969
rs1555948969
HDAC8
A 0.700 GeneticVariation CLINVAR

dbSNP: rs1555949010
rs1555949010
HDAC8
G 0.700 GeneticVariation CLINVAR

dbSNP: rs1556165162
rs1556165162
HDAC8
T 0.700 CausalMutation CLINVAR

dbSNP: rs1569317995
rs1569317995
HDAC8
G 0.700 GeneticVariation CLINVAR

dbSNP: rs398122888
rs398122888
HDAC8
T 0.700 CausalMutation CLINVAR

dbSNP: rs587783663
rs587783663
HDAC8
C 0.700 CausalMutation CLINVAR

dbSNP: rs797045610
rs797045610
HDAC8
T 0.700 CausalMutation CLINVAR