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: rs1085308050
rs1085308050
PTEN
0.827 0.160 10 87933178 frameshift variant -/A delins
CUI: C2243051
Disease: Large head (disorder)
Large head (disorder) 		0.700 0
dbSNP: rs1163944538
rs1163944538
TMEM94
0.641 0.560 17 75494905 frameshift variant -/A delins 4.0E-06
CUI: C2243051
Disease: Large head (disorder)
Large head (disorder) 		0.700 0
dbSNP: rs730882244
rs730882244
FAM177A1
1.000 14 35077175 frameshift variant -/A delins
CUI: C2243051
Disease: Large head (disorder)
Large head (disorder) 		0.700 0
dbSNP: rs1568718508
rs1568718508
RIN2
1.000 0.200 20 19992201 frameshift variant -/C delins
CUI: C2243051
Disease: Large head (disorder)
Large head (disorder) 		0.700 0
dbSNP: rs1554649366
rs1554649366
NFIB
1.000 9 14150191 frameshift variant -/CA delins
CUI: C2243051
Disease: Large head (disorder)
Large head (disorder) 		0.700 0
dbSNP: rs1555619420
rs1555619420
NF1
1.000 0.040 17 31265331 frameshift variant -/G delins
CUI: C2243051
Disease: Large head (disorder)
Large head (disorder) 		0.700 0
dbSNP: rs1057518978
rs1057518978
ADNP
1.000 0.160 20 50892395 frameshift variant -/T delins
CUI: C2243051
Disease: Large head (disorder)
Large head (disorder) 		0.700 0
dbSNP: rs1085308052
rs1085308052
PTEN
0.851 0.160 10 87952144 frameshift variant -/T delins
CUI: C2243051
Disease: Large head (disorder)
Large head (disorder) 		0.700 0
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: rs1554776954
rs1554776954
STXBP1
1.000 9 127661133 frameshift variant A/- delins
CUI: C2243051
Disease: Large head (disorder)
Large head (disorder) 		0.700 0
dbSNP: rs1085308044
rs1085308044
PTEN ; KLLN
0.882 0.120 10 87864504 missense variant A/C snv
CUI: C2243051
Disease: Large head (disorder)
Large head (disorder) 		0.700 0
dbSNP: rs121918470
rs121918470
PTPN11
0.790 0.160 12 112489105 missense variant A/C;G snv 4.0E-06
CUI: C2243051
Disease: Large head (disorder)
Large head (disorder) 		0.700 1.000 4 2004 2006
dbSNP: rs1085308041
rs1085308041
PTEN
0.763 0.160 10 87965285 splice acceptor variant A/C;G snv
CUI: C2243051
Disease: Large head (disorder)
Large head (disorder) 		0.700 0
dbSNP: rs1057516044
rs1057516044
ABCC9
0.851 0.240 12 21913005 missense variant A/G snv
CUI: C2243051
Disease: Large head (disorder)
Large head (disorder) 		0.700 1.000 1 2016 2016
dbSNP: rs1085308047
rs1085308047
PTEN ; KLLN
0.827 0.160 10 87864509 missense variant A/G snv
CUI: C2243051
Disease: Large head (disorder)
Large head (disorder) 		0.700 0
dbSNP: rs1085308051
rs1085308051
PTEN
0.882 0.200 10 87933229 missense variant A/G snv 4.0E-06
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: rs1554709654
rs1554709654
NFIB
1.000 9 14307156 missense variant A/G snv
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: rs869312690
rs869312690
SCN8A
0.925 0.240 12 51806762 missense variant A/G snv
CUI: C2243051
Disease: Large head (disorder)
Large head (disorder) 		0.700 0
dbSNP: rs1085308043
rs1085308043
PTEN
0.763 0.200 10 87925511 splice acceptor variant A/G;T snv
CUI: C2243051
Disease: Large head (disorder)
Large head (disorder) 		0.700 0
dbSNP: rs398123316
rs398123316
PTEN
0.851 0.160 10 87925530 missense variant A/G;T snv
CUI: C2243051
Disease: Large head (disorder)
Large head (disorder) 		0.700 0
dbSNP: rs786204858
rs786204858
PTEN
0.776 0.280 10 87933079 missense variant A/G;T snv
CUI: C2243051
Disease: Large head (disorder)
Large head (disorder) 		0.700 0
dbSNP: rs80358243
rs80358243
MLC1
0.925 0.200 22 50083183 intron variant A/G;T snv 8.0E-06
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