Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1554385203
rs1554385203
CAMK2B
CUI: C4540484
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 54
MENTAL RETARDATION, AUTOSOMAL DOMINANT 54 		A 0.800 CausalMutation CLINVAR

dbSNP: rs1554386687
rs1554386687
CAMK2B
CUI: C4540484
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 54
MENTAL RETARDATION, AUTOSOMAL DOMINANT 54 		T 0.800 CausalMutation CLINVAR

dbSNP: rs1554387293
rs1554387293
CAMK2B
CUI: C4540484
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 54
MENTAL RETARDATION, AUTOSOMAL DOMINANT 54 		A 0.800 CausalMutation CLINVAR

dbSNP: rs1554389088
rs1554389088
CAMK2B
CUI: C4540484
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 54
MENTAL RETARDATION, AUTOSOMAL DOMINANT 54 		A 0.800 GeneticVariation CLINVAR De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability. 29100089

2017
dbSNP: rs1554389088
rs1554389088
CAMK2B
CUI: C4540484
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 54
MENTAL RETARDATION, AUTOSOMAL DOMINANT 54 		A 0.800 CausalMutation CLINVAR De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability. 29100089

2017
dbSNP: rs1554402092
rs1554402092
CAMK2B
CUI: C4540484
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 54
MENTAL RETARDATION, AUTOSOMAL DOMINANT 54 		T 0.800 CausalMutation CLINVAR

dbSNP: rs1554385305
rs1554385305
CAMK2B
CUI: C0454644
Disease: Delayed speech and language development
Delayed speech and language development 		T 0.700 CausalMutation CLINVAR De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability. 29100089

2017
dbSNP: rs1554385305
rs1554385305
CAMK2B
CUI: C4316870
Disease: Abnormality of the eye
Abnormality of the eye 		T 0.700 CausalMutation CLINVAR De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability. 29100089

2017
dbSNP: rs1554385305
rs1554385305
CAMK2B
CUI: C0266015
Disease: Congenital digestive system anomalies
Congenital digestive system anomalies 		T 0.700 CausalMutation CLINVAR De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability. 29100089

2017
dbSNP: rs1554385305
rs1554385305
CAMK2B
CUI: C1837658
Disease: Gross motor development delay
Gross motor development delay 		T 0.700 CausalMutation CLINVAR De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability. 29100089

2017
dbSNP: rs1554385305
rs1554385305
CAMK2B
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		T 0.700 CausalMutation CLINVAR De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability. 29100089

2017
dbSNP: rs1554385305
rs1554385305
CAMK2B
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		T 0.700 CausalMutation CLINVAR De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability. 29100089

2017
dbSNP: rs1554385305
rs1554385305
CAMK2B
CUI: C1843367
Disease: Poor school performance
Poor school performance 		T 0.700 CausalMutation CLINVAR De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability. 29100089

2017
dbSNP: rs1554386687
rs1554386687
CAMK2B
CUI: C0266015
Disease: Congenital digestive system anomalies
Congenital digestive system anomalies 		T 0.700 CausalMutation CLINVAR De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability. 29100089

2017
dbSNP: rs1554386687
rs1554386687
CAMK2B
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		T 0.700 CausalMutation CLINVAR De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability. 29100089

2017
dbSNP: rs1554386687
rs1554386687
CAMK2B
CUI: C4316870
Disease: Abnormality of the eye
Abnormality of the eye 		T 0.700 CausalMutation CLINVAR De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability. 29100089

2017
dbSNP: rs1554386687
rs1554386687
CAMK2B
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		T 0.700 CausalMutation CLINVAR De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability. 29100089

2017
dbSNP: rs1554386687
rs1554386687
CAMK2B
CUI: C1837658
Disease: Gross motor development delay
Gross motor development delay 		T 0.700 CausalMutation CLINVAR De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability. 29100089

2017
dbSNP: rs1554386687
rs1554386687
CAMK2B
CUI: C4020949
Disease: Abnormal emotion/affect behavior
Abnormal emotion/affect behavior 		T 0.700 CausalMutation CLINVAR De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability. 29100089

2017
dbSNP: rs1554386687
rs1554386687
CAMK2B
CUI: C0454644
Disease: Delayed speech and language development
Delayed speech and language development 		T 0.700 CausalMutation CLINVAR De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability. 29100089

2017
dbSNP: rs1554386687
rs1554386687
CAMK2B
CUI: C0036572
Disease: Seizures
Seizures 		T 0.700 CausalMutation CLINVAR De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability. 29100089

2017
dbSNP: rs1554386687
rs1554386687
CAMK2B
CUI: C4025871
Disease: Abnormality of the face
Abnormality of the face 		T 0.700 CausalMutation CLINVAR De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability. 29100089

2017
dbSNP: rs1554386687
rs1554386687
CAMK2B
CUI: C0262361
Disease: Growth abnormality
Growth abnormality 		T 0.700 CausalMutation CLINVAR De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability. 29100089

2017
dbSNP: rs1554386687
rs1554386687
CAMK2B
CUI: C1843367
Disease: Poor school performance
Poor school performance 		T 0.700 CausalMutation CLINVAR De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability. 29100089

2017
dbSNP: rs1554389088
rs1554389088
CAMK2B
CUI: C4025871
Disease: Abnormality of the face
Abnormality of the face 		A 0.700 CausalMutation CLINVAR De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability. 29100089

2017