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: rs1555535032
rs1555535032
NF1
0.882 0.120 17 31338734 frameshift variant TTAC/- delins
CUI: C0349588
Disease: Short stature
Short stature 		0.700 0
dbSNP: rs1057516037
rs1057516037
HDAC8
0.925 X 72464626 protein altering variant TGGAG/AC delins
CUI: C0349588
Disease: Short stature
Short stature 		0.700 1.000 1 2016 2016
dbSNP: rs1555741826
rs1555741826
PRR12
0.776 0.280 19 49601646 frameshift variant TGCC/- delins
CUI: C0349588
Disease: Short stature
Short stature 		0.700 0
dbSNP: rs1553370918
rs1553370918
MYCN
0.851 0.360 2 15945602 frameshift variant TG/- delins
CUI: C0349588
Disease: Short stature
Short stature 		0.700 0
dbSNP: rs1569148952
rs1569148952
H2AP ; SYTL5
X 37991160 frameshift variant TG/- del
CUI: C0349588
Disease: Short stature
Short stature 		0.700 0
dbSNP: rs1569525894
rs1569525894
SLC9A6
0.790 0.280 X 136040055 frameshift variant TCTTCCTTAACCACCGC/- delins
CUI: C0349588
Disease: Short stature
Short stature 		0.700 0
dbSNP: rs746040003
rs746040003
RASA3
13 114018810 frameshift variant TCAG/- delins 1.6E-05
CUI: C0349588
Disease: Short stature
Short stature 		0.700 0
dbSNP: rs1569355102
rs1569355102
DYRK1A
0.695 0.360 21 37472869 frameshift variant TAAC/- delins
CUI: C0349588
Disease: Short stature
Short stature 		0.700 0
dbSNP: rs797044525
rs797044525
DYRK1A ; LOC105372797
0.925 21 37490244 missense variant T/G snv
CUI: C0349588
Disease: Short stature
Short stature 		0.700 1.000 1 2015 2015
dbSNP: rs1563293555
rs1563293555
HOOK3
8 42930130 missense variant T/G snv
CUI: C0349588
Disease: Short stature
Short stature 		0.700 0
dbSNP: rs1567966432
rs1567966432
GREB1L ; LOC101927521
18 21383629 missense variant T/G snv
CUI: C0349588
Disease: Short stature
Short stature 		0.700 0
dbSNP: rs1568105562
rs1568105562
FZD2
17 44559091 missense variant T/G snv
CUI: C0349588
Disease: Short stature
Short stature 		0.700 0
dbSNP: rs869312687
rs869312687
RIT1
0.925 0.080 1 155910695 missense variant T/G snv
CUI: C0349588
Disease: Short stature
Short stature 		0.700 0
dbSNP: rs1554643168
rs1554643168
PUF60
0.851 0.160 8 143818077 splice acceptor variant T/C;G snv
CUI: C0349588
Disease: Short stature
Short stature 		0.700 0
dbSNP: rs373730800
rs373730800
SBDS ; TYW1
0.925 7 66995320 missense variant T/C;G snv 6.0E-05
CUI: C0349588
Disease: Short stature
Short stature 		0.700 0
dbSNP: rs397507531
rs397507531
PTPN11
0.752 0.320 12 112473040 missense variant T/C;G snv
CUI: C0349588
Disease: Short stature
Short stature 		0.700 0
dbSNP: rs1057521737
rs1057521737
EP300
0.827 0.240 22 41173768 missense variant T/C snv
CUI: C0349588
Disease: Short stature
Short stature 		0.700 0
dbSNP: rs1297383239
rs1297383239
POLR2E
19 1091909 splice acceptor variant T/C snv 4.0E-06
CUI: C0349588
Disease: Short stature
Short stature 		0.700 0
dbSNP: rs139632595
rs139632595
EXOSC9
0.807 0.160 4 121801465 missense variant T/C snv 6.0E-05 2.5E-04
CUI: C0349588
Disease: Short stature
Short stature 		0.700 0
dbSNP: rs143814221
rs143814221
GHR
0.882 0.160 5 42711306 missense variant T/C snv 2.7E-04 2.3E-04
CUI: C0349588
Disease: Short stature
Short stature 		0.700 0
dbSNP: rs1441937959
rs1441937959
EFL1
0.763 0.280 15 82240555 missense variant T/C snv 8.2E-06
CUI: C0349588
Disease: Short stature
Short stature 		0.700 0
dbSNP: rs1553770577
rs1553770577
UBA5 ; NPHP3-ACAD11
0.724 0.480 3 132675342 missense variant T/C snv
CUI: C0349588
Disease: Short stature
Short stature 		0.700 0
dbSNP: rs1555548680
rs1555548680
STAT5B
1.000 0.120 17 42216066 missense variant T/C snv
CUI: C0349588
Disease: Short stature
Short stature 		0.700 0
dbSNP: rs1560739587
rs1560739587
CLGN
4 140396131 missense variant T/C snv
CUI: C0349588
Disease: Short stature
Short stature 		0.700 0
dbSNP: rs1562137453
rs1562137453
ADGRB3
6 69049307 missense variant T/C snv
CUI: C0349588
Disease: Short stature
Short stature 		0.700 0