Source: ALL

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: rs1057516460
rs1057516460
HADHA
0.925 0.200 2 26204190 splice acceptor variant GATGCCTGCA/- delins
CUI: C1969443
Disease: Trifunctional Protein Deficiency With Myopathy And Neuropathy
Trifunctional Protein Deficiency With Myopathy And Neuropathy 		0.700 1.000 5 1995 2012
dbSNP: rs1167218743
rs1167218743
HADHA ; GAREM2
0.925 0.200 2 26192309 splice donor variant C/A;G snv 7.0E-06
CUI: C1969443
Disease: Trifunctional Protein Deficiency With Myopathy And Neuropathy
Trifunctional Protein Deficiency With Myopathy And Neuropathy 		0.700 1.000 5 1995 2012
dbSNP: rs1057516417
rs1057516417
HADHA
0.925 0.200 2 26234216 splice donor variant C/T snv
CUI: C1969443
Disease: Trifunctional Protein Deficiency With Myopathy And Neuropathy
Trifunctional Protein Deficiency With Myopathy And Neuropathy 		0.700 1.000 4 1995 2012
dbSNP: rs781205883
rs781205883
HADHA
1.000 0.200 2 26236891 frameshift variant GAGAT/- delins 8.0E-06 7.0E-06
CUI: C1969443
Disease: Trifunctional Protein Deficiency With Myopathy And Neuropathy
Trifunctional Protein Deficiency With Myopathy And Neuropathy 		0.700 1.000 4 1999 2012
dbSNP: rs781222705
rs781222705
HADHA
0.925 0.200 2 26238931 splice region variant T/C snv 5.2E-05
CUI: C1969443
Disease: Trifunctional Protein Deficiency With Myopathy And Neuropathy
Trifunctional Protein Deficiency With Myopathy And Neuropathy 		0.700 1.000 4 1995 2016
dbSNP: rs371159065
rs371159065
HADHB
1.000 0.200 2 26277115 missense variant A/C;G snv 8.0E-06; 1.1E-04
CUI: C1969443
Disease: Trifunctional Protein Deficiency With Myopathy And Neuropathy
Trifunctional Protein Deficiency With Myopathy And Neuropathy 		0.700 1.000 3 1996 2003
dbSNP: rs769580842
rs769580842
HADHA ; GAREM2
0.925 0.200 2 26193668 frameshift variant AT/- del 3.5E-05
CUI: C1969443
Disease: Trifunctional Protein Deficiency With Myopathy And Neuropathy
Trifunctional Protein Deficiency With Myopathy And Neuropathy 		0.700 1.000 3 2002 2003
dbSNP: rs773127211
rs773127211
HADHB
1.000 0.200 2 26277080 missense variant T/C snv 8.0E-06 2.1E-05
CUI: C1969443
Disease: Trifunctional Protein Deficiency With Myopathy And Neuropathy
Trifunctional Protein Deficiency With Myopathy And Neuropathy 		0.700 1.000 3 1996 2003
dbSNP: rs786204607
rs786204607
HADHA
1.000 0.200 2 26215149 missense variant G/A snv
CUI: C1969443
Disease: Trifunctional Protein Deficiency With Myopathy And Neuropathy
Trifunctional Protein Deficiency With Myopathy And Neuropathy 		0.700 1.000 3 2009 2012
dbSNP: rs137852771
rs137852771
HADHA ; GAREM2
0.925 0.200 2 26194581 stop gained G/A snv 2.4E-05
CUI: C1969443
Disease: Trifunctional Protein Deficiency With Myopathy And Neuropathy
Trifunctional Protein Deficiency With Myopathy And Neuropathy 		0.700 1.000 2 1996 2016
dbSNP: rs779113356
rs779113356
HADHA ; GAREM2
0.925 0.200 2 26192343 frameshift variant A/- delins 4.0E-06
CUI: C1969443
Disease: Trifunctional Protein Deficiency With Myopathy And Neuropathy
Trifunctional Protein Deficiency With Myopathy And Neuropathy 		0.700 1.000 2 1999 2011
dbSNP: rs113112630
rs113112630
HADHB
1.000 0.200 2 26263480 splice donor variant G/A snv 8.0E-06
CUI: C1969443
Disease: Trifunctional Protein Deficiency With Myopathy And Neuropathy
Trifunctional Protein Deficiency With Myopathy And Neuropathy 		0.700 1.000 1 2011 2011
dbSNP: rs749848370
rs749848370
HADHA ; GAREM2
1.000 0.200 2 26192311 frameshift variant TAGGAGGCAGCTTCAGACT/- delins 1.2E-05
CUI: C1969443
Disease: Trifunctional Protein Deficiency With Myopathy And Neuropathy
Trifunctional Protein Deficiency With Myopathy And Neuropathy 		0.700 1.000 1 2011 2011
dbSNP: rs759136382
rs759136382
HADHB
1.000 0.200 2 26279189 stop gained C/G;T snv 4.0E-06; 4.0E-06
CUI: C1969443
Disease: Trifunctional Protein Deficiency With Myopathy And Neuropathy
Trifunctional Protein Deficiency With Myopathy And Neuropathy 		0.700 1.000 1 2003 2003
dbSNP: rs1166120479
rs1166120479
HADHB
1.000 0.200 2 26279229 missense variant A/G snv 7.0E-06
CUI: C1969443
Disease: Trifunctional Protein Deficiency With Myopathy And Neuropathy
Trifunctional Protein Deficiency With Myopathy And Neuropathy 		0.700 0
dbSNP: rs137852770
rs137852770
HADHA
0.925 0.200 2 26204150 stop gained G/A snv 7.0E-06
CUI: C1969443
Disease: Trifunctional Protein Deficiency With Myopathy And Neuropathy
Trifunctional Protein Deficiency With Myopathy And Neuropathy 		0.700 0
dbSNP: rs137852775
rs137852775
HADHA
0.925 0.200 2 26214490 stop gained G/A snv
CUI: C1969443
Disease: Trifunctional Protein Deficiency With Myopathy And Neuropathy
Trifunctional Protein Deficiency With Myopathy And Neuropathy 		0.700 0
dbSNP: rs138966725
rs138966725
HADHA ; GAREM2
1.000 0.200 2 26191498 missense variant G/A;T snv 2.0E-04 1.6E-04
CUI: C1969443
Disease: Trifunctional Protein Deficiency With Myopathy And Neuropathy
Trifunctional Protein Deficiency With Myopathy And Neuropathy 		0.700 0
dbSNP: rs1456890163
rs1456890163
HADHA ; HADHB
1.000 0.200 2 26244572 frameshift variant -/GCCAATCGCCCGGCAGGCC delins
CUI: C1969443
Disease: Trifunctional Protein Deficiency With Myopathy And Neuropathy
Trifunctional Protein Deficiency With Myopathy And Neuropathy 		0.700 0
dbSNP: rs267606859
rs267606859
HADHB
1.000 0.200 2 26285546 missense variant T/A;C;G snv 4.0E-06; 1.6E-05; 4.0E-06
CUI: C1969443
Disease: Trifunctional Protein Deficiency With Myopathy And Neuropathy
Trifunctional Protein Deficiency With Myopathy And Neuropathy 		0.700 0
dbSNP: rs751772298
rs751772298
HADHB
1.000 0.200 2 26280021 missense variant G/A snv 4.0E-06 7.0E-06
CUI: C1969443
Disease: Trifunctional Protein Deficiency With Myopathy And Neuropathy
Trifunctional Protein Deficiency With Myopathy And Neuropathy 		0.700 0
dbSNP: rs764623179
rs764623179
HADHB
0.925 0.240 2 26284908 missense variant C/G;T snv 4.0E-06
CUI: C1969443
Disease: Trifunctional Protein Deficiency With Myopathy And Neuropathy
Trifunctional Protein Deficiency With Myopathy And Neuropathy 		0.700 0
dbSNP: rs776172237
rs776172237
HADHB
1.000 0.200 2 26269998 splice donor variant G/A snv 4.0E-06 1.4E-05
CUI: C1969443
Disease: Trifunctional Protein Deficiency With Myopathy And Neuropathy
Trifunctional Protein Deficiency With Myopathy And Neuropathy 		0.700 0
dbSNP: rs780351691
rs780351691
HADHB
1.000 0.200 2 26263451 missense variant C/T snv 1.6E-05 7.0E-06
CUI: C1969443
Disease: Trifunctional Protein Deficiency With Myopathy And Neuropathy
Trifunctional Protein Deficiency With Myopathy And Neuropathy 		0.700 0
dbSNP: rs786205088
rs786205088
HADHA
0.925 0.200 2 26238933 splice donor variant C/T snv
CUI: C1969443
Disease: Trifunctional Protein Deficiency With Myopathy And Neuropathy
Trifunctional Protein Deficiency With Myopathy And Neuropathy 		0.700 0