rs1057521921
×
Entrez Id:
8243
Gene Symbol:
SMC1A
SMC1A
Cornelia De Lange Syndrome
0.010
GeneticVariation
BEFREE
Novel pathogenic variant (c.3178G>A ) in the SMC1A gene in a family with Cornelia de Lange syndrome identified by exome sequencing.
26354354
2015
rs122454122
×
Entrez Id:
8243
Gene Symbol:
SMC1A
SMC1A
Congenital muscular hypertrophy-cerebral syndrome
G
0.800
CausalMutation
CLINVAR
rs122454123
×
Entrez Id:
8243
Gene Symbol:
SMC1A
SMC1A
Congenital muscular hypertrophy-cerebral syndrome
T
0.800
CausalMutation
CLINVAR
Mutations in cohesin complex members SMC3 and SMC1A cause a mild variant of cornelia de Lange syndrome with predominant mental retardation.
17273969
2007
rs122454123
×
Entrez Id:
8243
Gene Symbol:
SMC1A
SMC1A
Congenital muscular hypertrophy-cerebral syndrome
T
0.800
CausalMutation
CLINVAR
Clinical exome sequencing reveals locus heterogeneity and phenotypic variability of cohesinopathies.
30158690
2019
rs1556890815
×
Entrez Id:
8243
Gene Symbol:
SMC1A
SMC1A
Congenital muscular hypertrophy-cerebral syndrome
T
0.800
CausalMutation
CLINVAR
Incidence and clinical features of X-linked Cornelia de Lange syndrome due to SMC1L1 mutations.
17221863
2007
rs1556890815
×
Entrez Id:
8243
Gene Symbol:
SMC1A
SMC1A
Congenital muscular hypertrophy-cerebral syndrome
T
0.800
CausalMutation
CLINVAR
Mutations in cohesin complex members SMC3 and SMC1A cause a mild variant of cornelia de Lange syndrome with predominant mental retardation.
17273969
2007
rs1556890815
×
Entrez Id:
8243
Gene Symbol:
SMC1A
SMC1A
Congenital muscular hypertrophy-cerebral syndrome
T
0.800
CausalMutation
CLINVAR
SMC1A expression and mechanism of pathogenicity in probands with X-Linked Cornelia de Lange syndrome.
19701948
2009
rs387906702
×
Entrez Id:
8243
Gene Symbol:
SMC1A
SMC1A
Congenital muscular hypertrophy-cerebral syndrome
G
0.800
CausalMutation
CLINVAR
rs387906702
×
Entrez Id:
8243
Gene Symbol:
SMC1A
SMC1A
Congenital muscular hypertrophy-cerebral syndrome
G
0.800
GeneticVariation
CLINVAR
rs587784403
×
Entrez Id:
8243
Gene Symbol:
SMC1A
SMC1A
Congenital muscular hypertrophy-cerebral syndrome
T
0.800
CausalMutation
CLINVAR
rs587784408
×
Entrez Id:
8243
Gene Symbol:
SMC1A
SMC1A
Congenital muscular hypertrophy-cerebral syndrome
T
0.800
GeneticVariation
CLINVAR
rs587784409
×
Entrez Id:
8243
Gene Symbol:
SMC1A
SMC1A
Congenital muscular hypertrophy-cerebral syndrome
A
0.800
CausalMutation
CLINVAR
rs587784416
×
Entrez Id:
8243
Gene Symbol:
SMC1A
SMC1A
Congenital muscular hypertrophy-cerebral syndrome
T
0.800
GeneticVariation
CLINVAR
rs587784418
×
Entrez Id:
8243
Gene Symbol:
SMC1A
SMC1A
Congenital muscular hypertrophy-cerebral syndrome
C
0.800
GeneticVariation
CLINVAR
rs587784418
×
Entrez Id:
8243
Gene Symbol:
SMC1A
SMC1A
Congenital muscular hypertrophy-cerebral syndrome
C
0.800
CausalMutation
CLINVAR
rs587784420
×
Entrez Id:
8243
Gene Symbol:
SMC1A
SMC1A
Congenital muscular hypertrophy-cerebral syndrome
T
0.800
GeneticVariation
CLINVAR
rs797045993
×
Entrez Id:
8243
Gene Symbol:
SMC1A
SMC1A
Congenital muscular hypertrophy-cerebral syndrome
T
0.800
CausalMutation
CLINVAR
rs1057518670
×
Entrez Id:
8243
Gene Symbol:
SMC1A
SMC1A
Congenital muscular hypertrophy-cerebral syndrome
C
0.700
CausalMutation
CLINVAR
rs1057519398
×
Entrez Id:
8243
Gene Symbol:
SMC1A
SMC1A
Congenital muscular hypertrophy-cerebral syndrome
CG
0.700
CausalMutation
CLINVAR
rs1057519398
×
Entrez Id:
8243
Gene Symbol:
SMC1A
SMC1A
Poor school performance
CG
0.700
CausalMutation
CLINVAR
rs1057519499
×
Entrez Id:
8243
Gene Symbol:
SMC1A
SMC1A
Congenital muscular hypertrophy-cerebral syndrome
C
0.700
GeneticVariation
CLINVAR
rs1556885815
×
Entrez Id:
8243
Gene Symbol:
SMC1A
SMC1A
Congenital muscular hypertrophy-cerebral syndrome
C
0.700
GeneticVariation
CLINVAR
rs1556886034
×
Entrez Id:
8243
Gene Symbol:
SMC1A
SMC1A
Dysmorphic features
T
0.700
GeneticVariation
CLINVAR
Phenotypes and genotypes in individuals with SMC1A variants.
28548707
2017
rs1556886034
×
Entrez Id:
8243
Gene Symbol:
SMC1A
SMC1A
Dysmorphic features
T
0.700
GeneticVariation
CLINVAR
Proteomic profile identifies dysregulated pathways in Cornelia de Lange syndrome cells with distinct mutations in SMC1A and SMC3 genes.
23106691
2012
rs1556886034
×
Entrez Id:
8243
Gene Symbol:
SMC1A
SMC1A
Dysmorphic features
T
0.700
GeneticVariation
CLINVAR
Novel findings of left ventricular non-compaction cardiomyopathy, microform cleft lip and poor vision in patient with SMC1A-associated Cornelia de Lange syndrome.
28102598
2017