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: rs587779388
rs587779388
AP4B1 ; AP4B1-AS1
1.000 1 113898755 frameshift variant GT/- delins 1.4E-04 1.5E-04
CUI: C0456070
Disease: Growth delay
Growth delay 		0.700 1.000 3 2011 2012
dbSNP: rs1555743003
rs1555743003
ASXL3
0.701 0.520 18 33740444 splice donor variant G/A snv
CUI: C0456070
Disease: Growth delay
Growth delay 		0.700 1.000 1 2016 2016
dbSNP: rs752746786
rs752746786
GNB1
0.742 0.560 1 1806503 missense variant A/C;G;T snv 4.0E-06
CUI: C0456070
Disease: Growth delay
Growth delay 		0.700 1.000 1 2016 2016
dbSNP: rs796051881
rs796051881
PEX5
0.807 0.440 12 7202274 frameshift variant -/A delins
CUI: C0456070
Disease: Growth delay
Growth delay 		0.700 1.000 1 2015 2015
dbSNP: rs869312823
rs869312823
GNB1
0.882 0.080 1 1806509 missense variant T/C snv
CUI: C0456070
Disease: Growth delay
Growth delay 		0.700 1.000 1 2016 2016
dbSNP: rs869312824
rs869312824
GNB1
0.827 0.200 1 1804565 missense variant A/G snv
CUI: C0456070
Disease: Growth delay
Growth delay 		0.700 1.000 1 2016 2016
dbSNP: rs1057518345
rs1057518345
ADNP
0.742 0.400 20 50894172 frameshift variant ACTA/- delins
CUI: C0456070
Disease: Growth delay
Growth delay 		0.700 0
dbSNP: rs1057518781
rs1057518781
MCOLN1
0.925 0.120 19 7527961 splice donor variant G/A;C snv
CUI: C0456070
Disease: Growth delay
Growth delay 		0.700 0
dbSNP: rs1057518782
rs1057518782
MCOLN1 ; LOC105372261
0.925 0.120 19 7526579 stop gained C/G;T snv
CUI: C0456070
Disease: Growth delay
Growth delay 		0.700 0
dbSNP: rs1057518817
rs1057518817
NPR2
1.000 0.080 9 35805944 frameshift variant GTGGTCCTTTC/- del
CUI: C0456070
Disease: Growth delay
Growth delay 		0.700 0
dbSNP: rs1085307845
rs1085307845
PHIP
0.752 0.320 6 79025582 missense variant G/T snv
CUI: C0456070
Disease: Growth delay
Growth delay 		0.700 0
dbSNP: rs1085307993
rs1085307993
GABRB2
0.716 0.440 5 161331056 missense variant C/T snv
CUI: C0456070
Disease: Growth delay
Growth delay 		0.700 0
dbSNP: rs1135402758
rs1135402758
NUP214
1.000 9 131199023 intron variant T/- delins
CUI: C0456070
Disease: Growth delay
Growth delay 		0.700 0
dbSNP: rs113871094
rs113871094
FBN1
0.683 0.320 15 48465820 stop gained G/A snv
CUI: C0456070
Disease: Growth delay
Growth delay 		0.700 0
dbSNP: rs121913482
rs121913482
FGFR3
0.630 0.680 4 1801837 missense variant C/T snv
CUI: C0456070
Disease: Growth delay
Growth delay 		0.700 0
dbSNP: rs1344172059
rs1344172059
ABCC8
0.882 0.080 11 17430838 missense variant C/T snv 7.0E-06
CUI: C0456070
Disease: Growth delay
Growth delay 		0.700 0
dbSNP: rs141322087
rs141322087
ABCC8
0.851 0.160 11 17404552 missense variant C/T snv 1.2E-05 2.1E-05
CUI: C0456070
Disease: Growth delay
Growth delay 		0.700 0
dbSNP: rs1426488816
rs1426488816
PLAA
0.827 0.160 9 26913948 splice acceptor variant C/T snv 8.0E-06
CUI: C0456070
Disease: Growth delay
Growth delay 		0.700 0
dbSNP: rs1441937959
rs1441937959
EFL1
0.763 0.280 15 82240555 missense variant T/C snv 8.2E-06
CUI: C0456070
Disease: Growth delay
Growth delay 		0.700 0
dbSNP: rs150681845
rs150681845
INTU
1.000 0.080 4 127687772 missense variant G/A snv 2.6E-03 1.8E-03
CUI: C0456070
Disease: Growth delay
Growth delay 		0.700 0
dbSNP: rs1553655558
rs1553655558
TRIP12
0.752 0.360 2 229830831 frameshift variant A/- delins
CUI: C0456070
Disease: Growth delay
Growth delay 		0.700 0
dbSNP: rs1554032789
rs1554032789
NIPBL
0.925 0.160 5 37048547 missense variant T/A snv
CUI: C0456070
Disease: Growth delay
Growth delay 		0.700 0
dbSNP: rs1555377415
rs1555377415
IRF2BPL ; LOC107984638
0.827 0.200 14 77027274 stop gained G/C snv
CUI: C0456070
Disease: Growth delay
Growth delay 		0.700 0
dbSNP: rs1555575860
rs1555575860
COG4
0.732 0.240 16 70496367 missense variant C/G;T snv
CUI: C0456070
Disease: Growth delay
Growth delay 		0.700 0
dbSNP: rs1557036768
rs1557036768
HUWE1
0.708 0.320 X 53647390 missense variant C/T snv
CUI: C0456070
Disease: Growth delay
Growth delay 		0.700 0