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: rs797045055
rs797045055
CYTB ; ND5 ; ND6
1.000 0.080 MT 14597 missense variant A/G snv
CUI: C0013362
Disease: Dysarthria
Dysarthria 		0.700 1.000 1 2016 2016
dbSNP: rs1553878395
rs1553878395
SEPSECS
0.925 0.080 4 25127263 splice acceptor variant AAAGATATGGGATTGTGAGGTGTATGCAACAGTCTTTCATTGTAGGCTTCTGACAACTTCTTTATTTGGTTGGACAAATATGAAAACATTTCCT/- delins
CUI: C0013362
Disease: Dysarthria
Dysarthria 		0.700 0
dbSNP: rs1561515242
rs1561515242
CAMK4
1.000 0.080 5 111482938 splice donor variant G/A snv
CUI: C0013362
Disease: Dysarthria
Dysarthria 		0.700 0
dbSNP: rs781934508
rs781934508
SURF1
1.000 0.080 9 133352441 splice region variant C/A;T snv 2.4E-05
CUI: C0013362
Disease: Dysarthria
Dysarthria 		0.700 0
dbSNP: rs864309483
rs864309483
ADCY5
0.851 0.080 3 123352464 missense variant G/A snv
CUI: C0013362
Disease: Dysarthria
Dysarthria 		0.700 0
dbSNP: rs1057518936
rs1057518936
PNPLA6
0.925 0.120 19 7541025 missense variant C/G snv
CUI: C0013362
Disease: Dysarthria
Dysarthria 		0.700 0
dbSNP: rs1555475794
rs1555475794
STUB1 ; JMJD8
0.925 0.120 16 682729 3 prime UTR variant T/C snv
CUI: C0013362
Disease: Dysarthria
Dysarthria 		0.700 0
dbSNP: rs768823392
rs768823392
SPG7
0.827 0.120 16 89546657 coding sequence variant GGCGGGAGA/- delins 2.6E-04 4.2E-04
CUI: C0013362
Disease: Dysarthria
Dysarthria 		0.700 0
dbSNP: rs770703007
rs770703007
MAPK8IP3
0.851 0.120 16 1706450 stop gained C/G;T snv 4.0E-06
CUI: C0013362
Disease: Dysarthria
Dysarthria 		0.700 0
dbSNP: rs869312880
rs869312880
REEP1
0.882 0.120 2 86232624 splice donor variant C/T snv
CUI: C0013362
Disease: Dysarthria
Dysarthria 		0.700 0
dbSNP: rs1553630279
rs1553630279
CTNNB1
0.807 0.160 3 41225049 stop gained C/T snv
CUI: C0013362
Disease: Dysarthria
Dysarthria 		0.700 1.000 3 1989 2017
dbSNP: rs121918358
rs121918358
SPG7
0.882 0.160 16 89510539 stop gained T/A snv 4.2E-04 1.8E-04
CUI: C0013362
Disease: Dysarthria
Dysarthria 		0.700 1.000 1 2016 2016
dbSNP: rs141659620
rs141659620
SPG7
0.882 0.160 16 89531961 missense variant G/A;C snv 8.3E-04; 8.0E-06
CUI: C0013362
Disease: Dysarthria
Dysarthria 		0.700 1.000 1 2016 2016
dbSNP: rs72547551
rs72547551
SPG7
0.882 0.160 16 89550545 missense variant C/T snv 3.6E-05 1.5E-04
CUI: C0013362
Disease: Dysarthria
Dysarthria 		0.700 1.000 1 2016 2016
dbSNP: rs748309520
rs748309520
SPG7
0.882 0.160 16 89531903 splice acceptor variant G/A snv 1.6E-05 7.0E-06
CUI: C0013362
Disease: Dysarthria
Dysarthria 		0.700 1.000 1 2016 2016
dbSNP: rs752989523
rs752989523
SPG7
0.882 0.160 16 89553853 stop gained G/A;C snv 8.0E-06
CUI: C0013362
Disease: Dysarthria
Dysarthria 		0.700 1.000 1 2016 2016
dbSNP: rs879253797
rs879253797
SPG7
0.882 0.160 16 89556954 missense variant C/T snv 1.4E-05
CUI: C0013362
Disease: Dysarthria
Dysarthria 		0.700 1.000 1 2016 2016
dbSNP: rs1217391623
rs1217391623
SPG7
0.882 0.160 16 89556976 frameshift variant G/- del 7.0E-06
CUI: C0013362
Disease: Dysarthria
Dysarthria 		0.700 0
dbSNP: rs142110773
rs142110773
DDC ; FIGNL1
0.882 0.160 7 50463317 missense variant G/A snv 1.6E-05 7.0E-06
CUI: C0013362
Disease: Dysarthria
Dysarthria 		0.700 0
dbSNP: rs1555507479
rs1555507479
GNAO1
0.807 0.160 16 56336799 missense variant C/A snv
CUI: C0013362
Disease: Dysarthria
Dysarthria 		0.700 0
dbSNP: rs1555565492
rs1555565492
RAI1
0.776 0.160 17 17795417 frameshift variant -/G delins
CUI: C0013362
Disease: Dysarthria
Dysarthria 		0.700 0
dbSNP: rs1561904557
rs1561904557
CSF1R
0.851 0.160 5 150056050 missense variant GGAT/TGCC mnv
CUI: C0013362
Disease: Dysarthria
Dysarthria 		0.700 0
dbSNP: rs375817528
rs375817528
CAPN1
0.776 0.160 11 65206824 splice region variant G/A snv 1.2E-04 1.2E-04
CUI: C0013362
Disease: Dysarthria
Dysarthria 		0.700 0
dbSNP: rs727502818
rs727502818
KCNC1
0.790 0.160 11 17772053 missense variant G/A snv
CUI: C0013362
Disease: Dysarthria
Dysarthria 		0.700 0
dbSNP: rs782316919
rs782316919
SURF1
0.827 0.160 9 133351970 frameshift variant AG/- delins 8.4E-05
CUI: C0013362
Disease: Dysarthria
Dysarthria 		0.700 0