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: rs121913279
rs121913279
PIK3CA
0.526 0.560 3 179234297 missense variant A/G;T snv 4.0E-06; 4.0E-06
CUI: C1849265
Disease: Overgrowth
Overgrowth 		0.700 0
dbSNP: rs1565706229
rs1565706229
EED ; MIR6755
0.851 0.120 11 86277110 missense variant T/C snv
CUI: C1849265
Disease: Overgrowth
Overgrowth 		0.700 0
dbSNP: rs397514698
rs397514698
GNAQ
0.667 0.400 9 77797577 missense variant C/T snv
CUI: C1849265
Disease: Overgrowth
Overgrowth 		0.700 0
dbSNP: rs587784177
rs587784177
NSD1
0.790 0.280 5 177283827 missense variant G/A snv
CUI: C1849265
Disease: Overgrowth
Overgrowth 		0.700 0
dbSNP: rs786204849
rs786204849
FIBP
0.882 0.200 11 65885181 stop gained G/A snv
CUI: C1849265
Disease: Overgrowth
Overgrowth 		0.700 0
dbSNP: rs886039908
rs886039908
GPC3
0.925 0.360 X 133536175 frameshift variant A/- delins
CUI: C1849265
Disease: Overgrowth
Overgrowth 		0.700 0
dbSNP: rs886041065
rs886041065
ASXL2
0.677 0.600 2 25743913 frameshift variant G/- delins
CUI: C1849265
Disease: Overgrowth
Overgrowth 		0.700 0
dbSNP: rs757823678
rs757823678
DNMT3A
1.000 0.160 2 25240312 missense variant C/A;T snv 4.0E-06
CUI: C1849265
Disease: Overgrowth
Overgrowth 		0.700 1.000 36 1989 2018
dbSNP: rs113001196
rs113001196
FBN1
0.882 0.160 15 48432947 stop gained G/A snv
CUI: C1849265
Disease: Overgrowth
Overgrowth 		0.700 1.000 29 1986 2016
dbSNP: rs1555850868
rs1555850868
KCNQ2
1.000 20 63407149 frameshift variant G/- delins
CUI: C1849265
Disease: Overgrowth
Overgrowth 		0.700 1.000 29 1980 2017
dbSNP: rs869025411
rs869025411
FBN1
0.925 0.160 15 48432911 missense variant A/G snv
CUI: C1849265
Disease: Overgrowth
Overgrowth 		0.700 1.000 29 1986 2016
dbSNP: rs1554777919
rs1554777919
STXBP1
9 127669950 frameshift variant G/- delins
CUI: C1849265
Disease: Overgrowth
Overgrowth 		0.700 1.000 27 1998 2016
dbSNP: rs121918490
rs121918490
FGFR2
0.851 0.080 10 121517342 missense variant G/C snv
CUI: C1849265
Disease: Overgrowth
Overgrowth 		0.700 1.000 26 1985 2017
dbSNP: rs1555186842
rs1555186842
KMT2D
1.000 12 49030285 frameshift variant -/GTGCCCTT delins
CUI: C1849265
Disease: Overgrowth
Overgrowth 		0.700 1.000 25 1988 2017
dbSNP: rs1553631770
rs1553631770
CTNNB1
1.000 3 41233398 missense variant A/T snv
CUI: C1849265
Disease: Overgrowth
Overgrowth 		0.700 1.000 22 1991 2017
dbSNP: rs781978013
rs781978013
KMT2A
1.000 11 118472681 stop gained G/A;T snv 4.0E-06
CUI: C1849265
Disease: Overgrowth
Overgrowth 		0.700 1.000 22 1989 2017
dbSNP: rs1553156053
rs1553156053
SLC2A1
1.000 1 42929652 stop gained G/A snv
CUI: C1849265
Disease: Overgrowth
Overgrowth 		0.700 1.000 21 1991 2016
dbSNP: rs1553479216
rs1553479216
SCN9A ; SCN1A-AS1
2 166228902 stop gained C/T snv
CUI: C1849265
Disease: Overgrowth
Overgrowth 		0.700 1.000 21 1995 2016
dbSNP: rs1314314373
rs1314314373
BCL11B
1.000 14 99176115 stop gained G/A;C snv 4.1E-06
CUI: C1849265
Disease: Overgrowth
Overgrowth 		0.700 1.000 19 2003 2016
dbSNP: rs1553549717
rs1553549717
SCN1A ; SCN1A-AS1
1.000 2 166051871 frameshift variant C/- delins
CUI: C1849265
Disease: Overgrowth
Overgrowth 		0.700 1.000 19 1997 2014
dbSNP: rs61752992
rs61752992
MECP2
0.807 0.120 X 154030621 splice acceptor variant TGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGC/- delins
CUI: C1849265
Disease: Overgrowth
Overgrowth 		0.700 1.000 19 1993 2016
dbSNP: rs1555202806
rs1555202806
BBS10
1.000 0.120 12 76348313 frameshift variant AACGCCGC/- delins
CUI: C1849265
Disease: Overgrowth
Overgrowth 		0.700 1.000 17 1999 2013
dbSNP: rs5030857
rs5030857
PAH
0.925 0.120 12 102840507 missense variant G/A snv 6.0E-04 5.6E-04
CUI: C1849265
Disease: Overgrowth
Overgrowth 		0.700 1.000 17 1993 2015
dbSNP: rs549625604
rs549625604
BBS10
0.752 0.280 12 76347713 frameshift variant -/A delins 6.0E-04
CUI: C1849265
Disease: Overgrowth
Overgrowth 		0.700 1.000 17 1999 2013
dbSNP: rs62508588
rs62508588
PAH
1.000 0.120 12 102852929 missense variant C/A;T snv 7.6E-05
CUI: C1849265
Disease: Overgrowth
Overgrowth 		0.700 1.000 17 1993 2015