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: rs1057516032
rs1057516032
1.000 19 41970211 protein altering variant AGTCT/GA delins
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia
0.700 1.000 1 2016 2016
dbSNP: rs1057518786
rs1057518786
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: rs1057519450
rs1057519450
14 73537826 frameshift variant AGCCGGTGCGCGCG/- delins
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia
0.700 0
dbSNP: rs1557106484
rs1557106484
X 77633315 missense variant C/A snv
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia
0.700 0
dbSNP: rs377619533
rs377619533
1.000 18 33743312 stop gained C/A;T snv 2.8E-05
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia
0.700 0
dbSNP: rs397514582
rs397514582
0.925 20 63439656 missense variant C/A;T snv
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia
0.700 0
dbSNP: rs750371878
rs750371878
0.925 6 104796666 stop gained G/A snv 4.0E-06 1.4E-05
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia
0.700 0
dbSNP: rs778899140
rs778899140
0.925 6 165450268 missense variant T/C snv 4.0E-06
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia
0.700 0
dbSNP: rs797046136
rs797046136
10 129848391 splice donor variant C/A snv
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia
0.700 0
dbSNP: rs1057519567
rs1057519567
0.882 0.040 7 76063554 frameshift variant G/- delins
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia
0.700 1.000 1 2017 2017
dbSNP: rs145999922
rs145999922
0.882 0.040 2 227699378 missense variant A/G snv 4.4E-05 4.2E-05
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia
0.700 1.000 1 2016 2016
dbSNP: rs1561500885
rs1561500885
1.000 0.040 5 70946138 missense variant T/C snv
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia
0.700 1.000 1 2007 2007
dbSNP: rs775835429
rs775835429
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: rs1057518928
rs1057518928
1.000 0.040 12 23665471 missense variant G/A snv
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia
0.700 0
dbSNP: rs1555889127
rs1555889127
1.000 0.040 20 49374625 missense variant C/T snv
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia
0.700 0
dbSNP: rs1057516031
rs1057516031
1.000 0.080 X 150598681 stop gained G/T snv
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia
0.700 1.000 1 2016 2016
dbSNP: rs121434578
rs121434578
1.000 0.080 16 8768248 missense variant G/A snv
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia
0.700 1.000 1 2010 2010
dbSNP: rs1561498701
rs1561498701
1.000 0.080 5 70925150 frameshift variant -/GGATTCCG delins
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia
0.700 1.000 1 2013 2013
dbSNP: rs724159991
rs724159991
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
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: rs1553511224
rs1553511224
0.882 0.080 2 161423825 frameshift variant -/C delins
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia
0.700 0
dbSNP: rs1555736565
rs1555736565
0.925 0.080 19 13230191 missense variant C/A;T snv
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia
0.700 0
dbSNP: rs1562927768
rs1562927768
0.790 0.080 7 105101476 frameshift variant AAAGA/- delins
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia
0.700 0
dbSNP: rs724159990
rs724159990
1.000 0.080 16 8768220 missense variant C/T snv
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia
0.700 0