Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1556886034
rs1556886034
Entrez Id: 8243
Gene Symbol: SMC1A
SMC1A
CUI: C0000772
Disease:
Multiple congenital anomalies 		T 0.700 GeneticVariation CLINVAR De novo loss-of-function mutations in X-linked SMC1A cause severe ID and therapy-resistant epilepsy in females: expanding the phenotypic spectrum. 26752331 2016
dbSNP: rs1556886034
rs1556886034
Entrez Id: 8243
Gene Symbol: SMC1A
SMC1A
CUI: C0026827
Disease:
Muscle hypotonia 		T 0.700 GeneticVariation CLINVAR De novo loss-of-function mutations in X-linked SMC1A cause severe ID and therapy-resistant epilepsy in females: expanding the phenotypic spectrum. 26752331 2016
dbSNP: rs1556889640
rs1556889640
Entrez Id: 8243;102465516
Gene Symbol: SMC1A;MIR6857
SMC1A;MIR6857
CUI: C0026827
Disease:
Muscle hypotonia 		A 0.700 CausalMutation CLINVAR De novo loss-of-function mutations in X-linked SMC1A cause severe ID and therapy-resistant epilepsy in females: expanding the phenotypic spectrum. 26752331 2016
dbSNP: rs387906702
rs387906702
Entrez Id: 8243
Gene Symbol: SMC1A
SMC1A
CUI: C0026650
Disease:
Movement Disorders 		G 0.700 GeneticVariation CLINVAR De novo loss-of-function mutations in X-linked SMC1A cause severe ID and therapy-resistant epilepsy in females: expanding the phenotypic spectrum. 26752331 2016
dbSNP: rs387906702
rs387906702
Entrez Id: 8243
Gene Symbol: SMC1A
SMC1A
CUI: C0432072
Disease:
Dysmorphic features 		G 0.700 GeneticVariation CLINVAR De novo loss-of-function mutations in X-linked SMC1A cause severe ID and therapy-resistant epilepsy in females: expanding the phenotypic spectrum. 26752331 2016
dbSNP: rs387906702
rs387906702
Entrez Id: 8243
Gene Symbol: SMC1A
SMC1A
CUI: C0026827
Disease:
Muscle hypotonia 		G 0.700 GeneticVariation CLINVAR De novo loss-of-function mutations in X-linked SMC1A cause severe ID and therapy-resistant epilepsy in females: expanding the phenotypic spectrum. 26752331 2016
dbSNP: rs797045069
rs797045069
Entrez Id: 8243
Gene Symbol: SMC1A
SMC1A
CUI: C1802395
Disease:
Congenital muscular hypertrophy-cerebral syndrome 		C 0.700 CausalMutation CLINVAR Molecular diagnostic experience of whole-exome sequencing in adult patients. 26633545 2016
dbSNP: rs1556886034
rs1556886034
Entrez Id: 8243
Gene Symbol: SMC1A
SMC1A
CUI: C0000772
Disease:
Multiple congenital anomalies 		T 0.700 GeneticVariation CLINVAR Novel SMC1A frameshift mutations in children with developmental delay and epilepsy. 26386245 2015
dbSNP: rs1556886034
rs1556886034
Entrez Id: 8243
Gene Symbol: SMC1A
SMC1A
CUI: C0026827
Disease:
Muscle hypotonia 		T 0.700 GeneticVariation CLINVAR Novel SMC1A frameshift mutations in children with developmental delay and epilepsy. 26386245 2015
dbSNP: rs1556886034
rs1556886034
Entrez Id: 8243
Gene Symbol: SMC1A
SMC1A
CUI: C0000772
Disease:
Multiple congenital anomalies 		T 0.700 GeneticVariation CLINVAR Early-onset encephalopathy with epilepsy associated with a novel splice site mutation in SMC1A. 26358754 2015
dbSNP: rs1556886034
rs1556886034
Entrez Id: 8243
Gene Symbol: SMC1A
SMC1A
CUI: C0432072
Disease:
Dysmorphic features 		T 0.700 GeneticVariation CLINVAR Clinical utility gene card for: Cornelia de Lange syndrome. 25537356 2015
dbSNP: rs1556886034
rs1556886034
Entrez Id: 8243
Gene Symbol: SMC1A
SMC1A
CUI: C0432072
Disease:
Dysmorphic features 		T 0.700 GeneticVariation CLINVAR Novel SMC1A frameshift mutations in children with developmental delay and epilepsy. 26386245 2015
dbSNP: rs1556886034
rs1556886034
Entrez Id: 8243
Gene Symbol: SMC1A
SMC1A
CUI: C0000772
Disease:
Multiple congenital anomalies 		T 0.700 GeneticVariation CLINVAR Clinical utility gene card for: Cornelia de Lange syndrome. 25537356 2015
dbSNP: rs1556886034
rs1556886034
Entrez Id: 8243
Gene Symbol: SMC1A
SMC1A
CUI: C0026827
Disease:
Muscle hypotonia 		T 0.700 GeneticVariation CLINVAR Early-onset encephalopathy with epilepsy associated with a novel splice site mutation in SMC1A. 26358754 2015
dbSNP: rs1556886034
rs1556886034
Entrez Id: 8243
Gene Symbol: SMC1A
SMC1A
CUI: C0432072
Disease:
Dysmorphic features 		T 0.700 GeneticVariation CLINVAR Novel pathogenic variant (c.3178G>A) in the SMC1A gene in a family with Cornelia de Lange syndrome identified by exome sequencing. 26354354 2015
dbSNP: rs1556886034
rs1556886034
Entrez Id: 8243
Gene Symbol: SMC1A
SMC1A
CUI: C0026827
Disease:
Muscle hypotonia 		T 0.700 GeneticVariation CLINVAR Novel pathogenic variant (c.3178G>A) in the SMC1A gene in a family with Cornelia de Lange syndrome identified by exome sequencing. 26354354 2015
dbSNP: rs1556886034
rs1556886034
Entrez Id: 8243
Gene Symbol: SMC1A
SMC1A
CUI: C0000772
Disease:
Multiple congenital anomalies 		T 0.700 GeneticVariation CLINVAR Novel pathogenic variant (c.3178G>A) in the SMC1A gene in a family with Cornelia de Lange syndrome identified by exome sequencing. 26354354 2015
dbSNP: rs1556886034
rs1556886034
Entrez Id: 8243
Gene Symbol: SMC1A
SMC1A
CUI: C0026827
Disease:
Muscle hypotonia 		T 0.700 GeneticVariation CLINVAR Clinical utility gene card for: Cornelia de Lange syndrome. 25537356 2015
dbSNP: rs1556886034
rs1556886034
Entrez Id: 8243
Gene Symbol: SMC1A
SMC1A
CUI: C0432072
Disease:
Dysmorphic features 		T 0.700 GeneticVariation CLINVAR Early-onset encephalopathy with epilepsy associated with a novel splice site mutation in SMC1A. 26358754 2015
dbSNP: rs1556886034
rs1556886034
Entrez Id: 8243
Gene Symbol: SMC1A
SMC1A
CUI: C1802395
Disease:
Congenital muscular hypertrophy-cerebral syndrome 		T 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: rs1556889640
rs1556889640
Entrez Id: 8243;102465516
Gene Symbol: SMC1A;MIR6857
SMC1A;MIR6857
CUI: C0026827
Disease:
Muscle hypotonia 		A 0.700 CausalMutation CLINVAR Clinical utility gene card for: Cornelia de Lange syndrome. 25537356 2015
dbSNP: rs1556889640
rs1556889640
Entrez Id: 8243;102465516
Gene Symbol: SMC1A;MIR6857
SMC1A;MIR6857
CUI: C0026827
Disease:
Muscle hypotonia 		A 0.700 CausalMutation CLINVAR Novel pathogenic variant (c.3178G>A) in the SMC1A gene in a family with Cornelia de Lange syndrome identified by exome sequencing. 26354354 2015
dbSNP: rs1556889640
rs1556889640
Entrez Id: 8243;102465516
Gene Symbol: SMC1A;MIR6857
SMC1A;MIR6857
CUI: C0026827
Disease:
Muscle hypotonia 		A 0.700 CausalMutation CLINVAR Novel SMC1A frameshift mutations in children with developmental delay and epilepsy. 26386245 2015
dbSNP: rs1556889640
rs1556889640
Entrez Id: 8243;102465516
Gene Symbol: SMC1A;MIR6857
SMC1A;MIR6857
CUI: C0026827
Disease:
Muscle hypotonia 		A 0.700 CausalMutation CLINVAR Early-onset encephalopathy with epilepsy associated with a novel splice site mutation in SMC1A. 26358754 2015
dbSNP: rs387906702
rs387906702
Entrez Id: 8243
Gene Symbol: SMC1A
SMC1A
CUI: C0026827
Disease:
Muscle hypotonia 		G 0.700 GeneticVariation CLINVAR Early-onset encephalopathy with epilepsy associated with a novel splice site mutation in SMC1A. 26358754 2015