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: rs80338903
rs80338903
USH2A
0.701 0.360 1 216247095 frameshift variant C/- del 7.6E-04 5.4E-04
CUI: C1849265
Disease: Overgrowth
Overgrowth 		0.700 1.000 15 2000 2015
dbSNP: rs778127154
rs778127154
ALDH5A1
1.000 0.120 6 24515259 frameshift variant T/- del 5.6E-05
CUI: C1849265
Disease: Overgrowth
Overgrowth 		0.700 1.000 6 1994 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: rs1554777919
rs1554777919
STXBP1
9 127669950 frameshift variant G/- delins
CUI: C1849265
Disease: Overgrowth
Overgrowth 		0.700 1.000 27 1998 2016
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: 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: 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: rs1553268563
rs1553268563
USH2A
1 215845823 coding sequence variant C/- delins
CUI: C1849265
Disease: Overgrowth
Overgrowth 		0.700 1.000 15 2000 2015
dbSNP: rs1554898088
rs1554898088
PTEN
1.000 10 87933066 frameshift variant CC/-;C delins
CUI: C1849265
Disease: Overgrowth
Overgrowth 		0.700 1.000 14 2001 2015
dbSNP: rs774152851
rs774152851
CHD8 ; SNORD9
1.000 14 21394188 frameshift variant G/-;GG delins
CUI: C1849265
Disease: Overgrowth
Overgrowth 		0.700 1.000 12 2008 2017
dbSNP: rs387906309
rs387906309
HEXA
0.925 0.160 15 72346579 frameshift variant -/GATA delins 4.0E-06; 8.0E-04 4.5E-04
CUI: C1849265
Disease: Overgrowth
Overgrowth 		0.700 1.000 11 1986 2011
dbSNP: rs1555565243
rs1555565243
RAI1
1.000 17 17794617 frameshift variant CT/- delins
CUI: C1849265
Disease: Overgrowth
Overgrowth 		0.700 1.000 9 2004 2016
dbSNP: rs1557100594
rs1557100594
AVPR2
0.925 0.080 X 153905887 inframe deletion TAC/- delins
CUI: C1849265
Disease: Overgrowth
Overgrowth 		0.700 1.000 9 1999 2015
dbSNP: rs1553794464
rs1553794464
ZBTB20 ; ZBTB20-AS1
1.000 3 114350821 frameshift variant -/C delins
CUI: C1849265
Disease: Overgrowth
Overgrowth 		0.700 1.000 7 2009 2017
dbSNP: rs1556039406
rs1556039406
NHS
1.000 X 17727350 frameshift variant C/- delins
CUI: C1849265
Disease: Overgrowth
Overgrowth 		0.700 1.000 7 2002 2014
dbSNP: rs797045865
rs797045865
PAFAH1B1
0.925 0.080 17 2674088 frameshift variant GA/- delins
CUI: C1849265
Disease: Overgrowth
Overgrowth 		0.700 1.000 6 1997 2017
dbSNP: rs80359636
rs80359636
BRCA2
0.851 0.240 13 32354921 frameshift variant CT/- delins 2.8E-05
CUI: C1849265
Disease: Overgrowth
Overgrowth 		0.700 1.000 6 2005 2013
dbSNP: rs1555801973
rs1555801973
MKKS
20 10412669 frameshift variant -/T delins
CUI: C1849265
Disease: Overgrowth
Overgrowth 		0.700 1.000 5 1999 2016
dbSNP: rs1566446604
rs1566446604
CHD8
0.882 0.080 14 21431511 frameshift variant GAGAGCTTGGCAGTCCA/- delins
CUI: C1849265
Disease: Overgrowth
Overgrowth 		0.700 1.000 4 2012 2016
dbSNP: rs34927195
rs34927195
NLGN3
1.000 X 71147958 frameshift variant -/G delins
CUI: C1849265
Disease: Overgrowth
Overgrowth 		0.700 1.000 4 2003 2014
dbSNP: rs762904815
rs762904815
BRPF1
1.000 3 9744394 frameshift variant C/-;CC;CCC delins
CUI: C1849265
Disease: Overgrowth
Overgrowth 		0.700 1.000 2 2017 2017
dbSNP: rs1057515572
rs1057515572
PMS2
0.882 0.200 7 5987033 frameshift variant GC/ACT delins
CUI: C1849265
Disease: Overgrowth
Overgrowth 		0.700 1.000 1 2007 2007
dbSNP: rs558269137
rs558269137
FLG ; FLG-AS1
0.851 0.160 1 152312601 frameshift variant ACTG/- delins 1.3E-02
CUI: C1849265
Disease: Overgrowth
Overgrowth 		0.700 1.000 1 2006 2006