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: rs121909323
rs121909323
CACNA1A
0.790 0.160 19 13277122 stop gained G/A snv
CUI: C0683322
Disease: Mental impairment
Mental impairment 		0.700 1.000 1 2015 2015
dbSNP: rs786200962
rs786200962
CACNA1A
0.827 0.120 19 13298768 frameshift variant A/- del
CUI: C0683322
Disease: Mental impairment
Mental impairment 		0.700 1.000 1 2015 2015
dbSNP: rs1057518988
rs1057518988
GRIN2B
0.925 0.040 12 13571859 missense variant T/C snv
CUI: C0683322
Disease: Mental impairment
Mental impairment 		0.700 0
dbSNP: rs1057518991
rs1057518991
ADNP
0.925 20 50894041 stop gained G/A snv
CUI: C0683322
Disease: Mental impairment
Mental impairment 		0.700 0
dbSNP: rs1057519002
rs1057519002
ARID1B
1.000 6 157207497 frameshift variant T/- delins
CUI: C0683322
Disease: Mental impairment
Mental impairment 		0.700 0
dbSNP: rs1057519005
rs1057519005
ASXL3
1.000 18 33739390 stop gained C/A snv
CUI: C0683322
Disease: Mental impairment
Mental impairment 		0.700 0
dbSNP: rs1057519010
rs1057519010
SCN2A
1.000 2 165374775 frameshift variant GGAGTGAATCTCT/- del
CUI: C0683322
Disease: Mental impairment
Mental impairment 		0.700 0
dbSNP: rs1057519012
rs1057519012
EP300
1.000 22 41147864 frameshift variant -/G delins
CUI: C0683322
Disease: Mental impairment
Mental impairment 		0.700 0
dbSNP: rs1562927768
rs1562927768
KMT2E
0.790 0.080 7 105101476 frameshift variant AAAGA/- delins
CUI: C0683322
Disease: Mental impairment
Mental impairment 		0.700 0
dbSNP: rs1562931936
rs1562931936
KMT2E
1.000 7 105107527 stop gained C/T snv
CUI: C0683322
Disease: Mental impairment
Mental impairment 		0.700 0
dbSNP: rs80359826
rs80359826
SLC2A1
0.807 0.120 1 42929018 stop gained G/A;T snv 4.0E-06
CUI: C0683322
Disease: Mental impairment
Mental impairment 		0.700 0
dbSNP: rs876661219
rs876661219
GRIN2B
1.000 12 13571891 missense variant A/C;G snv
CUI: C0683322
Disease: Mental impairment
Mental impairment 		0.700 0
dbSNP: rs886041856
rs886041856
KMT2A
1.000 11 118476949 stop gained C/A;T snv 4.0E-06
CUI: C0683322
Disease: Mental impairment
Mental impairment 		0.700 0