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: rs1554121872
rs1554121872
CAMK2A
0.882 0.040 5 150250270 missense variant T/G snv
CUI: C4540481
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 53
MENTAL RETARDATION, AUTOSOMAL DOMINANT 53 		0.800 1.000 0 2015 2018
dbSNP: rs1554121872
rs1554121872
CAMK2A
0.882 0.040 5 150250270 missense variant T/G snv
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.700 1.000 1 2017 2017
dbSNP: rs1554121872
rs1554121872
CAMK2A
0.882 0.040 5 150250270 missense variant T/G snv
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		0.700 1.000 1 2017 2017
dbSNP: rs1554121872
rs1554121872
CAMK2A
0.882 0.040 5 150250270 missense variant T/G snv
CUI: C1837658
Disease: Gross motor development delay
Gross motor development delay 		0.700 1.000 1 2017 2017
dbSNP: rs1554121872
rs1554121872
CAMK2A
0.882 0.040 5 150250270 missense variant T/G snv
CUI: C1843367
Disease: Poor school performance
Poor school performance 		0.700 1.000 1 2017 2017
dbSNP: rs1554121872
rs1554121872
CAMK2A
0.882 0.040 5 150250270 missense variant T/G snv
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.700 1.000 1 2017 2017
dbSNP: rs1554121872
rs1554121872
CAMK2A
0.882 0.040 5 150250270 missense variant T/G snv
CUI: C0454644
Disease: Delayed speech and language development
Delayed speech and language development 		0.700 1.000 1 2017 2017