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: rs386834034
rs386834034
TSPAN1 ; POMGNT1
0.790 0.240 1 46194853 stop gained G/A;T snv 2.0E-05
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia 		0.700 1.000 1 2016 2016
dbSNP: rs587777893
rs587777893
MTOR
0.658 0.240 1 11128107 missense variant G/A;T snv
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia 		0.700 1.000 1 2016 2016
dbSNP: rs672601368
rs672601368
KIF1A
0.827 0.160 2 240785062 missense variant C/G;T snv
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia 		0.700 1.000 1 2016 2016
dbSNP: rs724159991
rs724159991
ABAT ; TMEM186
1.000 0.080 16 8781360 missense variant T/C snv
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia 		0.700 1.000 1 2010 2010
dbSNP: rs724159992
rs724159992
ABAT
1.000 0.080 16 8750498 missense variant G/A snv 1.4E-05
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia 		0.700 1.000 1 2010 2010
dbSNP: rs767961672
rs767961672
FOXG1
0.925 0.200 14 28767822 missense variant G/A;T snv 4.0E-06
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia 		0.700 1.000 1 2016 2016
dbSNP: rs775835429
rs775835429
SLC19A3
0.925 0.040 2 227702236 frameshift variant -/TC delins 2.4E-05 2.1E-05
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia 		0.700 1.000 1 2016 2016
dbSNP: rs777593389
rs777593389
VPS13B
1.000 0.320 8 99156693 stop gained C/T snv 4.0E-06
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia 		0.700 1.000 1 2016 2016
dbSNP: rs779027563
rs779027563
CNTNAP1
0.677 0.360 17 42687838 missense variant G/C snv 4.0E-06 7.0E-06
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia 		0.700 1.000 1 2017 2017
dbSNP: rs78300695
rs78300695
TREX1 ; ATRIP ; ATRIP-TREX1
0.882 0.200 3 48466711 frameshift variant -/G delins 2.1E-05
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia 		0.700 1.000 1 2016 2016
dbSNP: rs867410737
rs867410737
ATP5F1D
0.708 0.440 19 1242559 missense variant C/T snv 6.7E-06
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia 		0.700 1.000 1 2018 2018
dbSNP: rs1010184002
rs1010184002
PEX6
0.689 0.400 6 42978878 stop gained C/T snv 7.0E-06
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia 		0.700 0
dbSNP: rs1057518345
rs1057518345
ADNP
0.742 0.400 20 50894172 frameshift variant ACTA/- delins
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia 		0.700 0
dbSNP: rs1057518786
rs1057518786
SYNGAP1
1.000 6 33441374 splice region variant G/A snv
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia 		0.700 0
dbSNP: rs1057518794
rs1057518794
ARX
X 25004777 frameshift variant TCTG/- delins
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia 		0.700 0
dbSNP: rs1057518845
rs1057518845
SOX5 ; LOC105369696
0.925 0.120 12 23755726 splice acceptor variant T/G snv
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia 		0.700 0
dbSNP: rs1057518879
rs1057518879
PLOD1
0.776 0.280 1 11965571 stop gained G/A snv
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia 		0.700 0
dbSNP: rs1057518928
rs1057518928
SOX5
1.000 0.040 12 23665471 missense variant G/A snv
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia 		0.700 0
dbSNP: rs1057519429
rs1057519429
CACNA1A
0.807 0.240 19 13235666 missense variant C/G;T snv
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia 		0.700 0
dbSNP: rs1057519437
rs1057519437
EBF3
0.851 0.240 10 129957300 missense variant C/T snv
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia 		0.700 0
dbSNP: rs1057519443
rs1057519443
MPP4
0.882 0.200 2 201675255 missense variant A/G snv
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia 		0.700 0
dbSNP: rs1057519444
rs1057519444
SYN3
0.925 0.120 22 32518208 missense variant GG/AA mnv
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia 		0.700 0
dbSNP: rs1057519450
rs1057519450
HEATR4 ; ACOT1
14 73537826 frameshift variant AGCCGGTGCGCGCG/- delins
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia 		0.700 0
dbSNP: rs1057519521
rs1057519521
EBF3
0.851 0.120 10 129963375 frameshift variant TCTC/- del
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia 		0.700 0
dbSNP: rs1057519925
rs1057519925
PIK3CA
0.683 0.560 3 179210291 missense variant G/A;C snv
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia 		0.700 0