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: rs1064793829
rs1064793829
GATAD2B
0.882 0.160 1 153816571 frameshift variant A/- delins
CUI: C2243051
Disease: Large head (disorder)
Large head (disorder) 		0.700 1.000 1 2017 2017
dbSNP: rs587777893
rs587777893
MTOR
0.658 0.240 1 11128107 missense variant G/A;T snv
CUI: C2243051
Disease: Large head (disorder)
Large head (disorder) 		0.700 1.000 1 2016 2016
dbSNP: rs1057518992
rs1057518992
NFIA
1.000 0.200 1 61359232 frameshift variant G/- delins
CUI: C2243051
Disease: Large head (disorder)
Large head (disorder) 		0.700 0
dbSNP: rs146838322
rs146838322
TRIT1
1 39854058 missense variant A/G snv 1.2E-05
CUI: C2243051
Disease: Large head (disorder)
Large head (disorder) 		0.700 0
dbSNP: rs1557569831
rs1557569831
SZT2
0.925 0.120 1 43431458 splice acceptor variant A/G snv
CUI: C2243051
Disease: Large head (disorder)
Large head (disorder) 		0.700 0
dbSNP: rs1557739557
rs1557739557
MTOR
1 11114402 missense variant C/T snv
CUI: C2243051
Disease: Large head (disorder)
Large head (disorder) 		0.700 0
dbSNP: rs1557781252
rs1557781252
GATAD2B
0.742 0.320 1 153816414 stop gained G/A snv
CUI: C2243051
Disease: Large head (disorder)
Large head (disorder) 		0.700 0
dbSNP: rs587776935
rs587776935
AKT3
0.827 0.120 1 243505296 missense variant G/A snv
CUI: C2243051
Disease: Large head (disorder)
Large head (disorder) 		0.700 0
dbSNP: rs746200792
rs746200792
SZT2
0.925 0.120 1 43437254 inframe deletion TGT/- delins
CUI: C2243051
Disease: Large head (disorder)
Large head (disorder) 		0.700 0
dbSNP: rs886039900
rs886039900
AHDC1
0.925 0.320 1 27549887 frameshift variant C/- delins
CUI: C2243051
Disease: Large head (disorder)
Large head (disorder) 		0.700 0
dbSNP: rs1553544133
rs1553544133
SATB2
0.851 0.200 2 199308845 frameshift variant TC/- delins
CUI: C2243051
Disease: Large head (disorder)
Large head (disorder) 		0.700 0
dbSNP: rs200473652
rs200473652
UNC80
0.807 0.200 2 209819105 missense variant G/C snv 1.4E-03 1.6E-03
CUI: C2243051
Disease: Large head (disorder)
Large head (disorder) 		0.700 0
dbSNP: rs587778779
rs587778779
CYP27A1
0.807 0.240 2 218814379 splice acceptor variant G/A;T snv
CUI: C2243051
Disease: Large head (disorder)
Large head (disorder) 		0.700 0
dbSNP: rs886041065
rs886041065
ASXL2
0.677 0.600 2 25743913 frameshift variant G/- delins
CUI: C2243051
Disease: Large head (disorder)
Large head (disorder) 		0.700 0
dbSNP: rs886041094
rs886041094
UNC80
0.807 0.200 2 209941379 missense variant G/A snv 1.9E-05 2.1E-05
CUI: C2243051
Disease: Large head (disorder)
Large head (disorder) 		0.700 0
dbSNP: rs1057519925
rs1057519925
PIK3CA
0.683 0.560 3 179210291 missense variant G/A;C snv
CUI: C2243051
Disease: Large head (disorder)
Large head (disorder) 		0.700 0
dbSNP: rs863225460
rs863225460
PIK3CA
0.882 0.200 3 179199160 missense variant T/A snv
CUI: C2243051
Disease: Large head (disorder)
Large head (disorder) 		0.700 0
dbSNP: rs1057516048
rs1057516048
NSD1
0.925 0.200 5 177283796 missense variant A/T snv
CUI: C2243051
Disease: Large head (disorder)
Large head (disorder) 		0.700 1.000 1 2016 2016
dbSNP: rs113331868
rs113331868
CAMK2A
5 150228191 splice donor variant C/A;T snv
CUI: C2243051
Disease: Large head (disorder)
Large head (disorder) 		0.700 1.000 1 2017 2017
dbSNP: rs926027867
rs926027867
CAMK2A
0.882 0.040 5 150251808 missense variant G/A;T snv
CUI: C2243051
Disease: Large head (disorder)
Large head (disorder) 		0.700 1.000 1 2017 2017
dbSNP: rs587784177
rs587784177
NSD1
0.790 0.280 5 177283827 missense variant G/A snv
CUI: C2243051
Disease: Large head (disorder)
Large head (disorder) 		0.700 0
dbSNP: rs1554121443
rs1554121443
SYNGAP1 ; MIR5004
0.742 0.280 6 33438873 stop gained C/T snv
CUI: C2243051
Disease: Large head (disorder)
Large head (disorder) 		0.700 0
dbSNP: rs863225082
rs863225082
MEA1 ; PPP2R5D
0.827 0.160 6 43007265 missense variant G/A snv
CUI: C2243051
Disease: Large head (disorder)
Large head (disorder) 		0.700 0
dbSNP: rs869312697
rs869312697
ARID1B
0.882 0.400 6 157207241 stop gained C/T snv
CUI: C2243051
Disease: Large head (disorder)
Large head (disorder) 		0.700 0
dbSNP: rs180177035
rs180177035
BRAF
0.752 0.280 7 140801502 missense variant T/C snv
CUI: C2243051
Disease: Large head (disorder)
Large head (disorder) 		0.700 1.000 2 2006 2006