Source: CLINVAR

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs1554434435
rs1554434435
CAMK2B
1.000 7 44284206 stop gained G/A snv
CUI: C0454644
Disease: Delayed speech and language development
Delayed speech and language development 		0.700 1.000 1 2017 2017
dbSNP: rs1554434435
rs1554434435
CAMK2B
1.000 7 44284206 stop gained G/A snv
CUI: C1843367
Disease: Poor school performance
Poor school performance 		0.700 1.000 1 2017 2017
dbSNP: rs1554434435
rs1554434435
CAMK2B
1.000 7 44284206 stop gained G/A snv
CUI: C0036572
Disease: Seizures
Seizures 		0.700 1.000 1 2017 2017
dbSNP: rs1554434435
rs1554434435
CAMK2B
1.000 7 44284206 stop gained G/A snv
CUI: C4540484
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 54
MENTAL RETARDATION, AUTOSOMAL DOMINANT 54 		0.700 0
dbSNP: rs1554402092
rs1554402092
CAMK2B
1.000 7 44254555 missense variant C/T snv
CUI: C1843367
Disease: Poor school performance
Poor school performance 		0.700 1.000 1 2017 2017
dbSNP: rs1554402092
rs1554402092
CAMK2B
1.000 7 44254555 missense variant C/T snv
CUI: C4020949
Disease: Abnormal emotion/affect behavior
Abnormal emotion/affect behavior 		0.700 1.000 1 2017 2017
dbSNP: rs1554402092
rs1554402092
CAMK2B
1.000 7 44254555 missense variant C/T snv
CUI: C0266015
Disease: Congenital digestive system anomalies
Congenital digestive system anomalies 		0.700 1.000 1 2017 2017
dbSNP: rs1554402092
rs1554402092
CAMK2B
1.000 7 44254555 missense variant C/T snv
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.700 1.000 1 2017 2017
dbSNP: rs1554402092
rs1554402092
CAMK2B
1.000 7 44254555 missense variant C/T snv
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		0.700 1.000 1 2017 2017
dbSNP: rs1554402092
rs1554402092
CAMK2B
1.000 7 44254555 missense variant C/T snv
CUI: C0454644
Disease: Delayed speech and language development
Delayed speech and language development 		0.700 1.000 1 2017 2017
dbSNP: rs1554402092
rs1554402092
CAMK2B
1.000 7 44254555 missense variant C/T snv
CUI: C4316870
Disease: Abnormality of the eye
Abnormality of the eye 		0.700 1.000 1 2017 2017
dbSNP: rs1554402092
rs1554402092
CAMK2B
1.000 7 44254555 missense variant C/T snv
CUI: C4540484
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 54
MENTAL RETARDATION, AUTOSOMAL DOMINANT 54 		0.800 1.000 0 2017 2018
dbSNP: rs1554389088
rs1554389088
CAMK2B
0.807 0.160 7 44243526 missense variant G/A snv
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.700 1.000 3 2002 2017
dbSNP: rs1554389088
rs1554389088
CAMK2B
0.807 0.160 7 44243526 missense variant G/A snv
CUI: C0232466
Disease: Feeding difficulties
Feeding difficulties 		0.700 1.000 1 2017 2017
dbSNP: rs1554389088
rs1554389088
CAMK2B
0.807 0.160 7 44243526 missense variant G/A snv
CUI: C0013384
Disease: Dyskinetic syndrome
Dyskinetic syndrome 		0.700 1.000 1 2017 2017
dbSNP: rs1554389088
rs1554389088
CAMK2B
0.807 0.160 7 44243526 missense variant G/A snv
CUI: C3553450
Disease: Profound global developmental delay
Profound global developmental delay 		0.700 1.000 1 2017 2017
dbSNP: rs1554389088
rs1554389088
CAMK2B
0.807 0.160 7 44243526 missense variant G/A snv
CUI: C0037317
Disease: Sleep disturbances
Sleep disturbances 		0.700 1.000 1 2017 2017
dbSNP: rs1554389088
rs1554389088
CAMK2B
0.807 0.160 7 44243526 missense variant G/A snv
CUI: C4281993
Disease: Neonatal respiratory distress
Neonatal respiratory distress 		0.700 1.000 1 2017 2017
dbSNP: rs1554389088
rs1554389088
CAMK2B
0.807 0.160 7 44243526 missense variant G/A snv
CUI: C0454644
Disease: Delayed speech and language development
Delayed speech and language development 		0.700 1.000 1 2017 2017
dbSNP: rs1554389088
rs1554389088
CAMK2B
0.807 0.160 7 44243526 missense variant G/A snv
CUI: C0009806
Disease: Constipation
Constipation 		0.700 1.000 1 2017 2017
dbSNP: rs1554389088
rs1554389088
CAMK2B
0.807 0.160 7 44243526 missense variant G/A snv
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		0.700 1.000 1 2017 2017
dbSNP: rs1554389088
rs1554389088
CAMK2B
0.807 0.160 7 44243526 missense variant G/A snv
CUI: C4540484
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 54
MENTAL RETARDATION, AUTOSOMAL DOMINANT 54 		0.800 1.000 1 2017 2018
dbSNP: rs1554389088
rs1554389088
CAMK2B
0.807 0.160 7 44243526 missense variant G/A snv
CUI: C4316870
Disease: Abnormality of the eye
Abnormality of the eye 		0.700 1.000 1 2017 2017
dbSNP: rs1554389088
rs1554389088
CAMK2B
0.807 0.160 7 44243526 missense variant G/A snv
CUI: C3887506
Disease: Hyperkinesia
Hyperkinesia 		0.700 1.000 1 2017 2017
dbSNP: rs1554389088
rs1554389088
CAMK2B
0.807 0.160 7 44243526 missense variant G/A snv
CUI: C4551563
Disease: Microcephaly (physical finding)
Microcephaly (physical finding) 		0.700 1.000 1 2017 2017