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: rs374434303
rs374434303
PNPLA6
0.882 0.200 19 7561509 missense variant C/A;T snv 3.8E-05
CUI: C0013362
Disease: Dysarthria
Dysarthria 		0.700 0
dbSNP: rs730882198
rs730882198
SPART
0.851 0.200 13 36314259 frameshift variant -/T delins 1.2E-05
CUI: C0013362
Disease: Dysarthria
Dysarthria 		0.700 0
dbSNP: rs1114167423
rs1114167423
APTX
0.882 0.240 9 32984704 stop gained T/A snv
CUI: C0013362
Disease: Dysarthria
Dysarthria 		0.700 1.000 1 2017 2017
dbSNP: rs748787734
rs748787734
TUBB4A
0.827 0.240 19 6495437 missense variant G/A;C snv 1.2E-05
CUI: C0013362
Disease: Dysarthria
Dysarthria 		0.700 1.000 1 2014 2014
dbSNP: rs1057518813
rs1057518813
ERCC5 ; BIVM-ERCC5
0.790 0.240 13 102873305 frameshift variant CT/- delins
CUI: C0013362
Disease: Dysarthria
Dysarthria 		0.700 0
dbSNP: rs1345176461
rs1345176461
IRF2BPL ; LOC107984638
0.716 0.240 14 77027231 stop gained G/A;T snv 4.3E-06
CUI: C0013362
Disease: Dysarthria
Dysarthria 		0.700 0
dbSNP: rs1555745467
rs1555745467
CACNA1A
0.752 0.240 19 13262771 missense variant C/A snv
CUI: C0013362
Disease: Dysarthria
Dysarthria 		0.700 0
dbSNP: rs1555817157
rs1555817157
ABHD12
0.742 0.280 20 25339320 frameshift variant TCTTCCTCAGGCG/- del
CUI: C0013362
Disease: Dysarthria
Dysarthria 		0.700 1.000 1 2018 2018
dbSNP: rs1564045331
rs1564045331
XPA
0.716 0.320 9 97687208 inframe deletion ATTCTT/- delins
CUI: C0013362
Disease: Dysarthria
Dysarthria 		0.700 0
dbSNP: rs181109321
rs181109321
TTPA
0.776 0.320 8 63065904 splice region variant C/A;T snv 2.0E-05
CUI: C0013362
Disease: Dysarthria
Dysarthria 		0.700 0
dbSNP: rs387906686
rs387906686
SCN2A
0.742 0.320 2 165310413 missense variant C/A;T snv
CUI: C0013362
Disease: Dysarthria
Dysarthria 		0.700 0
dbSNP: rs778543124
rs778543124
XPA
0.716 0.320 9 97675476 frameshift variant AGTCTTACGGTACA/- delins 6.8E-05 6.3E-05
CUI: C0013362
Disease: Dysarthria
Dysarthria 		0.700 0
dbSNP: rs774277300
rs774277300
MRE11
0.742 0.360 11 94447276 stop gained G/A;C;T snv 2.8E-05; 4.0E-05; 4.0E-06
CUI: C0013362
Disease: Dysarthria
Dysarthria 		0.700 0
dbSNP: rs1057519389
rs1057519389
EBF3
0.695 0.400 10 129957324 missense variant C/A;G;T snv
CUI: C0013362
Disease: Dysarthria
Dysarthria 		0.700 1.000 1 2017 2017
dbSNP: rs1043679457
rs1043679457
ERCC8
0.752 0.400 5 60927745 intron variant C/A;G;T snv
CUI: C0013362
Disease: Dysarthria
Dysarthria 		0.700 0
dbSNP: rs752298579
rs752298579
TANGO2
0.701 0.480 22 20061538 missense variant G/A snv 1.4E-04 7.0E-06
CUI: C0013362
Disease: Dysarthria
Dysarthria 		0.700 1.000 1 2016 2016
dbSNP: rs61755320
rs61755320
SPG7
0.716 0.520 16 89546737 missense variant C/T snv 2.9E-03 3.5E-03
CUI: C0013362
Disease: Dysarthria
Dysarthria 		0.700 1.000 1 2016 2016