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: 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: 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
dbSNP: rs1085307451
rs1085307451
DHX30 ; MIR1226
0.925 0.160 3 47848246 missense variant C/T snv
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia 		0.700 0
dbSNP: rs1559931177
rs1559931177
QRICH1
0.827 0.120 3 49047207 stop gained G/A snv
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia 		0.700 0
dbSNP: rs371582179
rs371582179
GLB1
0.827 0.280 3 33014057 missense variant T/C snv 3.6E-05 6.3E-05
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia 		0.700 0
dbSNP: rs72555360
rs72555360
GLB1
0.807 0.280 3 33058221 missense variant G/A snv 4.4E-05 6.3E-05
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia 		0.700 0
dbSNP: rs753242774
rs753242774
DHX30 ; MIR1226
0.882 0.120 3 47848237 missense variant C/A;T snv
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia 		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: C1858120
Disease: Generalized hypotonia
Generalized hypotonia 		0.700 0
dbSNP: rs1553920379
rs1553920379
PPP3CA
0.776 0.160 4 101032294 frameshift variant -/AGTA delins
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia 		0.700 0
dbSNP: rs786205645
rs786205645
NEK1
0.827 0.160 4 169508827 frameshift variant TA/- delins
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia 		0.700 0
dbSNP: rs796052243
rs796052243
SPATA5
0.695 0.520 4 122934574 inframe deletion CAA/- delins
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia 		0.700 0
dbSNP: rs1561498701
rs1561498701
SMN1 ; SMN2
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: rs1561500885
rs1561500885
SMN1 ; SMN2
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: rs1561273261
rs1561273261
KIF2A ; DIMT1
0.790 0.160 5 62361307 missense variant G/A snv
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia 		0.700 0
dbSNP: rs796052505
rs796052505
GABRG2
0.724 0.440 5 162095551 missense variant G/A;C snv
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia 		0.700 0
dbSNP: rs869312698
rs869312698
MEF2C
0.925 0.160 5 88804785 missense variant C/T snv
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia 		0.700 0
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: rs1057518786
rs1057518786
SYNGAP1
1.000 6 33441374 splice region variant G/A snv
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia 		0.700 0
dbSNP: rs1085307845
rs1085307845
PHIP
0.752 0.320 6 79025582 missense variant G/T snv
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia 		0.700 0
dbSNP: rs1131691771
rs1131691771
PHIP ; IRAK1BP1
0.807 0.160 6 78958469 splice donor variant ACTT/- delins
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia 		0.700 0
dbSNP: rs1554210073
rs1554210073
PHIP
0.752 0.320 6 79042844 frameshift variant GT/A delins
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia 		0.700 0
dbSNP: rs1554301637
rs1554301637
LAMA2
0.925 0.120 6 129464289 splice acceptor variant TCCTCAGGTGGAAGATAGTGAGGGGACTATTCAATTTGATGGAGAAGGTTATGCATTGGTCAGCCGTCCCATTCGCTGGTACCCCAACATCTCCACTGTCATGTTCAAGTTCAGAACATTTTCTTCGAGTGCTCTTCTGATGTATCTTGCCACACGAGACCTG/- delins
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia 		0.700 0
dbSNP: rs1562114190
rs1562114190
PHIP ; IRAK1BP1
0.790 0.160 6 78946061 frameshift variant A/- delins
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia 		0.700 0
dbSNP: rs1562150844
rs1562150844
PHIP
0.790 0.280 6 78982908 frameshift variant CTTT/- delins
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia 		0.700 0
dbSNP: rs1562203136
rs1562203136
PHIP
0.882 0.120 6 79042902 frameshift variant -/T ins
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia 		0.700 0