Source: CURATED

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: rs397515440
rs397515440
NUBPL
1.000 14 31599310 missense variant G/T snv 2.0E-05 2.8E-05
CUI: C4748792
Disease: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 21
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 21 		0.800 1.000 2 2010 2013
dbSNP: rs552722349
rs552722349
NUBPL
1.000 14 31787845 missense variant A/C;G snv 2.8E-05
CUI: C4748792
Disease: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 21
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 21 		0.800 1.000 2 2010 2013
dbSNP: rs118161496
rs118161496
NUBPL
1.000 0.040 14 31850092 non coding transcript exon variant T/C snv 3.4E-03 3.4E-03
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		0.700 1.000 14 1999 2013
dbSNP: rs397515440
rs397515440
NUBPL
1.000 14 31599310 missense variant G/T snv 2.0E-05 2.8E-05
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		0.700 1.000 14 1999 2013
dbSNP: rs397515440
rs397515440
NUBPL
1.000 14 31599310 missense variant G/T snv 2.0E-05 2.8E-05
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.700 1.000 14 1999 2013
dbSNP: rs113235453
rs113235453
NUBPL
1.000 0.040 14 31849939 intron variant A/G snv 3.5E-02
CUI: C4022792
Disease: Reduced ejection fraction
Reduced ejection fraction 		0.700 1.000 1 2019 2019
dbSNP: rs113235453
rs113235453
NUBPL
1.000 0.040 14 31849939 intron variant A/G snv 3.5E-02
CUI: C0018810
Disease: heart rate
heart rate 		0.700 1.000 1 2019 2019
dbSNP: rs113235453
rs113235453
NUBPL
1.000 0.040 14 31849939 intron variant A/G snv 3.5E-02
CUI: C0018801
Disease: Heart failure
Heart failure 		0.700 1.000 1 2019 2019
dbSNP: rs201430951
rs201430951
NUBPL
0.925 0.040 14 31599308 missense variant T/C snv 1.5E-04 5.6E-05
CUI: C1838979
Disease: MITOCHONDRIAL COMPLEX I DEFICIENCY
MITOCHONDRIAL COMPLEX I DEFICIENCY 		0.700 1.000 1 2016 2016
dbSNP: rs73257280
rs73257280
NUBPL
14 31801445 intron variant G/A snv 0.22
CUI: C4280669
Disease: Velopharyngeal dysfunction
Velopharyngeal dysfunction 		0.700 1.000 1 2018 2018
dbSNP: rs118161496
rs118161496
NUBPL
1.000 0.040 14 31850092 non coding transcript exon variant T/C snv 3.4E-03 3.4E-03
CUI: C1838979
Disease: MITOCHONDRIAL COMPLEX I DEFICIENCY
MITOCHONDRIAL COMPLEX I DEFICIENCY 		0.700 0
dbSNP: rs201430951
rs201430951
NUBPL
0.925 0.040 14 31599308 missense variant T/C snv 1.5E-04 5.6E-05
CUI: C0349588
Disease: Short stature
Short stature 		0.700 0
dbSNP: rs201430951
rs201430951
NUBPL
0.925 0.040 14 31599308 missense variant T/C snv 1.5E-04 5.6E-05
CUI: C0001126
Disease: Renal tubular acidosis
Renal tubular acidosis 		0.700 0
dbSNP: rs201430951
rs201430951
NUBPL
0.925 0.040 14 31599308 missense variant T/C snv 1.5E-04 5.6E-05
CUI: C0270612
Disease: Leukoencephalopathy
Leukoencephalopathy 		0.700 0
dbSNP: rs201430951
rs201430951
NUBPL
0.925 0.040 14 31599308 missense variant T/C snv 1.5E-04 5.6E-05
CUI: C4022738
Disease: Neurodevelopmental delay
Neurodevelopmental delay 		0.700 0
dbSNP: rs201430951
rs201430951
NUBPL
0.925 0.040 14 31599308 missense variant T/C snv 1.5E-04 5.6E-05
CUI: C4748792
Disease: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 21
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 21 		0.700 0
dbSNP: rs201430951
rs201430951
NUBPL
0.925 0.040 14 31599308 missense variant T/C snv 1.5E-04 5.6E-05
CUI: C4021780
Disease: Abnormality of the liver
Abnormality of the liver 		0.700 0
dbSNP: rs751631278
rs751631278
NUBPL
1.000 14 31826715 splice donor variant G/A snv 1.6E-05 1.4E-05
CUI: C4748792
Disease: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 21
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 21 		0.700 0
dbSNP: rs879255565
rs879255565
NUBPL
1.000 14 31826682 stop gained -/CCTTGTGCTG delins
CUI: C4748792
Disease: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 21
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 21 		0.700 0