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: rs1556425596
rs1556425596
COL6A1
0.752 0.240 21 45989967 intron variant C/T snv
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia 		0.700 0
dbSNP: rs1557106484
rs1557106484
ATRX
X 77633315 missense variant C/A snv
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia 		0.700 0
dbSNP: rs1557612048
rs1557612048
ARID1A
0.807 0.200 1 26767868 missense variant T/C snv
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia 		0.700 0
dbSNP: rs1557781252
rs1557781252
GATAD2B
0.742 0.320 1 153816414 stop gained G/A snv
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia 		0.700 0
dbSNP: rs1558373252
rs1558373252
SOX11 ; LINC01248
0.790 0.120 2 5693013 frameshift variant T/- delins
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: 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: 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
dbSNP: rs1562927768
rs1562927768
KMT2E
0.790 0.080 7 105101476 frameshift variant AAAGA/- delins
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia 		0.700 0
dbSNP: rs1563221666
rs1563221666
SFTPC
0.882 0.120 8 22162694 missense variant C/T snv
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia 		0.700 0
dbSNP: rs1564045331
rs1564045331
XPA
0.716 0.320 9 97687208 inframe deletion ATTCTT/- delins
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia 		0.700 0
dbSNP: rs1566785444
rs1566785444
IRF2BPL
0.827 0.200 14 77025671 frameshift variant C/- delins
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia 		0.700 0
dbSNP: rs1567263168
rs1567263168
CREBBP
0.851 0.240 16 3729444 missense variant C/T snv
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia 		0.700 0
dbSNP: rs1569146993
rs1569146993
TCF20
0.851 0.320 22 42211700 frameshift variant -/C delins
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia 		0.700 0
dbSNP: rs1569190079
rs1569190079
PDHA1
0.882 0.160 X 19350044 missense variant G/T snv
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia 		0.700 0
dbSNP: rs1569301036
rs1569301036
TAF1
0.827 0.240 X 71397354 missense variant C/T snv
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia 		0.700 0
dbSNP: rs1569525894
rs1569525894
SLC9A6
0.790 0.280 X 136040055 frameshift variant TCTTCCTTAACCACCGC/- delins
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia 		0.700 0
dbSNP: rs199473457
rs199473457
KCNQ1
0.827 0.200 11 2572020 missense variant C/A;T snv
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia 		0.700 0
dbSNP: rs267606826
rs267606826
FOXG1
0.708 0.520 14 28767903 stop gained C/A;G;T snv
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia 		0.700 0
dbSNP: rs267608327
rs267608327
MECP2
0.763 0.200 X 154030631 splice acceptor variant CCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGT/- delins
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia 		0.700 0
dbSNP: rs28934907
rs28934907
MECP2
0.732 0.320 X 154032268 missense variant G/A;C snv
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia 		0.700 0
dbSNP: rs34757931
rs34757931
VPS11
0.742 0.360 11 119081189 missense variant T/G snv 1.2E-04 5.6E-05
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia 		0.700 0
dbSNP: rs370266293
rs370266293
HEXA
0.925 0.160 15 72346679 missense variant C/G;T snv 1.0E-04
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia 		0.700 0