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: rs1565930588
rs1565930588
HSPB8
0.882 0.160 12 119193787 frameshift variant TACTCAACATTTGG/- del
CUI: C1836296
Disease: Muscle Weakness Lower Limb
Muscle Weakness Lower Limb 		0.700 1.000 3 2016 2018
dbSNP: rs387906905
rs387906905
TRPV4
0.882 0.120 12 109798819 missense variant C/T snv
CUI: C1836296
Disease: Muscle Weakness Lower Limb
Muscle Weakness Lower Limb 		0.700 1.000 1 2011 2011
dbSNP: rs63750687
rs63750687
PSEN1
0.752 0.200 14 73217137 missense variant C/A;G;T snv
CUI: C1836296
Disease: Muscle Weakness Lower Limb
Muscle Weakness Lower Limb 		0.700 1.000 1 2014 2014
dbSNP: rs1057518083
rs1057518083
DYNC1H1
0.851 0.120 14 101986552 missense variant C/T snv
CUI: C1836296
Disease: Muscle Weakness Lower Limb
Muscle Weakness Lower Limb 		0.700 0
dbSNP: rs1057518943
rs1057518943
IGHMBP2
1.000 0.120 11 68906163 missense variant G/A;C snv 8.0E-06
CUI: C1836296
Disease: Muscle Weakness Lower Limb
Muscle Weakness Lower Limb 		0.700 0
dbSNP: rs121909112
rs121909112
HSPB1
0.882 0.080 7 76303855 missense variant C/G snv
CUI: C1836296
Disease: Muscle Weakness Lower Limb
Muscle Weakness Lower Limb 		0.700 0
dbSNP: rs137854521
rs137854521
ANO5
0.851 0.200 11 22221100 frameshift variant -/A delins
CUI: C1836296
Disease: Muscle Weakness Lower Limb
Muscle Weakness Lower Limb 		0.700 0
dbSNP: rs143003434
rs143003434
SPAST
1.000 0.080 2 32098840 missense variant G/A snv 3.2E-05 3.5E-05
CUI: C1836296
Disease: Muscle Weakness Lower Limb
Muscle Weakness Lower Limb 		0.700 0
dbSNP: rs1555452876
rs1555452876
PKD1 ; MIR6511B1
1.000 16 2106222 inframe deletion CTC/- delins
CUI: C1836296
Disease: Muscle Weakness Lower Limb
Muscle Weakness Lower Limb 		0.700 0
dbSNP: rs2230288
rs2230288
GBA
0.776 0.160 1 155236376 missense variant C/T snv 1.0E-02 1.0E-02
CUI: C1836296
Disease: Muscle Weakness Lower Limb
Muscle Weakness Lower Limb 		0.700 0
dbSNP: rs387907265
rs387907265
PFN1
0.925 0.080 17 4945982 missense variant A/C;G snv
CUI: C1836296
Disease: Muscle Weakness Lower Limb
Muscle Weakness Lower Limb 		0.700 0
dbSNP: rs757082154
rs757082154
TTN ; TTN-AS1
1.000 0.120 2 178527491 stop gained G/A snv 1.2E-05
CUI: C1836296
Disease: Muscle Weakness Lower Limb
Muscle Weakness Lower Limb 		0.700 0
dbSNP: rs773690764
rs773690764
IGHMBP2
11 68917781 stop gained C/T snv 4.0E-06 1.4E-05
CUI: C1836296
Disease: Muscle Weakness Lower Limb
Muscle Weakness Lower Limb 		0.700 0
dbSNP: rs864321670
rs864321670
ALDH18A1
0.763 0.320 10 95633012 missense variant C/T snv
CUI: C1836296
Disease: Muscle Weakness Lower Limb
Muscle Weakness Lower Limb 		0.700 0
dbSNP: rs886039785
rs886039785
DMD
0.925 0.120 X 31496876 stop gained C/T snv
CUI: C1836296
Disease: Muscle Weakness Lower Limb
Muscle Weakness Lower Limb 		0.700 0