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: rs1060503108
rs1060503108
CACNA2D2
1.000 0.040 3 50387592 frameshift variant TA/- delins
CUI: C4552072
Disease: X-linked infantile spasms
X-linked infantile spasms 		0.700 0
dbSNP: rs1485894376
rs1485894376
CACNA2D2
1.000 0.040 3 50375876 missense variant C/G;T snv
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy 		0.700 0
dbSNP: rs1559884460
rs1559884460
CACNA2D2
1.000 3 50374761 frameshift variant GAGAT/- delins
CUI: C4014430
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 21
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 21 		0.700 0
dbSNP: rs1559887808
rs1559887808
CACNA2D2
1.000 3 50377538 stop gained G/A snv
CUI: C4014430
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 21
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 21 		0.700 0