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: rs1057517686
rs1057517686
ATAD3A
0.827 0.120 1 1529299 missense variant C/T snv
CUI: C0031117
Disease: Peripheral Neuropathy
Peripheral Neuropathy 		0.700 1.000 1 2016 2016
dbSNP: rs587783070
rs587783070
IARS2
0.925 0.040 1 220143109 missense variant C/T snv
CUI: C0031117
Disease: Peripheral Neuropathy
Peripheral Neuropathy 		0.700 1.000 1 2014 2014
dbSNP: rs672601368
rs672601368
KIF1A
0.827 0.160 2 240785062 missense variant C/G;T snv
CUI: C0031117
Disease: Peripheral Neuropathy
Peripheral Neuropathy 		0.700 1.000 1 2016 2016
dbSNP: rs755919784
rs755919784
SPTLC3
1.000 0.080 20 13072400 missense variant T/C snv 2.6E-05 1.4E-05
CUI: C0031117
Disease: Peripheral Neuropathy
Peripheral Neuropathy 		0.700 1.000 1 2015 2015
dbSNP: rs765211108
rs765211108
NGLY1
1.000 0.080 3 25729208 frameshift variant ATTG/- delins 1.7E-05 7.0E-06
CUI: C0031117
Disease: Peripheral Neuropathy
Peripheral Neuropathy 		0.700 1.000 1 2015 2015
dbSNP: rs774909609
rs774909609
DNAJB5 ; DNAJB5-DT
9 34990673 missense variant C/T snv 1.2E-04 1.3E-04
CUI: C0031117
Disease: Peripheral Neuropathy
Peripheral Neuropathy 		0.700 1.000 1 2015 2015
dbSNP: rs796051881
rs796051881
PEX5
0.807 0.440 12 7202274 frameshift variant -/A delins
CUI: C0031117
Disease: Peripheral Neuropathy
Peripheral Neuropathy 		0.700 1.000 1 2015 2015
dbSNP: rs879253869
rs879253869
PMP2
0.925 0.080 8 81444935 missense variant A/T snv
CUI: C0031117
Disease: Peripheral Neuropathy
Peripheral Neuropathy 		0.700 1.000 1 2015 2015
dbSNP: rs1556488264
rs1556488264
TYMP ; SCO2
0.925 0.120 22 50527165 inframe deletion AGC/- delins
CUI: C0031117
Disease: Peripheral Neuropathy
Peripheral Neuropathy 		0.700 0
dbSNP: rs1559931177
rs1559931177
QRICH1
0.827 0.120 3 49047207 stop gained G/A snv
CUI: C0031117
Disease: Peripheral Neuropathy
Peripheral Neuropathy 		0.700 0
dbSNP: rs1563518388
rs1563518388
PMP2
1.000 8 81444908 missense variant A/G snv
CUI: C0031117
Disease: Peripheral Neuropathy
Peripheral Neuropathy 		0.700 0
dbSNP: rs1565538350
rs1565538350
TPI1
0.851 0.200 12 6870074 missense variant G/A snv
CUI: C0031117
Disease: Peripheral Neuropathy
Peripheral Neuropathy 		0.700 0
dbSNP: rs28928910
rs28928910
NEFL
0.827 0.200 8 24956452 missense variant G/A;T snv
CUI: C0031117
Disease: Peripheral Neuropathy
Peripheral Neuropathy 		0.700 0
dbSNP: rs377504835
rs377504835
COX6A1
12 120438230 splice donor variant G/A;C snv 4.0E-06; 4.9E-05
CUI: C0031117
Disease: Peripheral Neuropathy
Peripheral Neuropathy 		0.700 0
dbSNP: rs397507478
rs397507478
BRAF
0.790 0.440 7 140777014 missense variant C/A snv
CUI: C0031117
Disease: Peripheral Neuropathy
Peripheral Neuropathy 		0.700 0
dbSNP: rs72653786
rs72653786
ABCC6
0.882 0.280 16 16178961 missense variant A/G;T snv
CUI: C0031117
Disease: Peripheral Neuropathy
Peripheral Neuropathy 		0.700 0
dbSNP: rs761665644
rs761665644
TYMP ; SCO2
0.925 0.120 22 50527606 missense variant T/G snv 8.0E-06
CUI: C0031117
Disease: Peripheral Neuropathy
Peripheral Neuropathy 		0.700 0
dbSNP: rs769405586
rs769405586
ABCC6
0.925 0.200 16 16178934 missense variant C/A;T snv 4.0E-06; 1.6E-05
CUI: C0031117
Disease: Peripheral Neuropathy
Peripheral Neuropathy 		0.700 0
dbSNP: rs777219451
rs777219451
CHRNG
2 232540617 missense variant C/T snv 1.6E-05 7.0E-06
CUI: C0031117
Disease: Peripheral Neuropathy
Peripheral Neuropathy 		0.700 0
dbSNP: rs781939614
rs781939614
PEX11B
0.851 0.240 1 145916914 stop gained G/A snv 4.0E-06
CUI: C0031117
Disease: Peripheral Neuropathy
Peripheral Neuropathy 		0.700 0
dbSNP: rs781984979
rs781984979
PEX11B
0.851 0.240 1 145912346 stop gained G/A snv 4.0E-06
CUI: C0031117
Disease: Peripheral Neuropathy
Peripheral Neuropathy 		0.700 0
dbSNP: rs794728588
rs794728588
LMNA
1.000 0.040 1 156115262 missense variant A/T snv
CUI: C0031117
Disease: Peripheral Neuropathy
Peripheral Neuropathy 		0.700 0