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: rs28937590
rs28937590
BCS1L ; ZNF142
0.807 0.360 2 218661219 missense variant A/G snv 4.7E-04 4.1E-04
CUI: C1864002
Disease: GRACILE SYNDROME (disorder)
GRACILE SYNDROME (disorder) 		0.820 1.000 2 2002 2015
dbSNP: rs121908575
rs121908575
BCS1L ; ZNF142
1.000 2 218661120 missense variant C/G;T snv 8.0E-06; 1.2E-05
CUI: C3541471
Disease: MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 1
MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 1 		0.800 1.000 0 2001 2013
dbSNP: rs121908580
rs121908580
BCS1L ; ZNF142
1.000 2 218661135 missense variant A/G snv
CUI: C3541471
Disease: MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 1
MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 1 		0.800 1.000 0 2001 2013
dbSNP: rs386833857
rs386833857
BCS1L ; ZNF142
1.000 0.240 2 218661516 missense variant G/A snv 4.0E-06 1.4E-05
CUI: C1864002
Disease: GRACILE SYNDROME (disorder)
GRACILE SYNDROME (disorder) 		0.800 1.000 0 2002 2007
dbSNP: rs121908572
rs121908572
BCS1L ; ZNF142
0.882 0.280 2 218661283 missense variant C/T snv
CUI: C1864002
Disease: GRACILE SYNDROME (disorder)
GRACILE SYNDROME (disorder) 		0.710 1.000 4 2001 2014
dbSNP: rs377025174
rs377025174
BCS1L ; ZNF142
2 218661192 missense variant C/A;T snv 4.0E-06; 6.8E-05
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		0.700 1.000 5 2001 2009
dbSNP: rs121908576
rs121908576
BCS1L ; ZNF142
0.851 0.360 2 218661153 stop gained C/T snv 1.7E-04 2.9E-04
CUI: C1864002
Disease: GRACILE SYNDROME (disorder)
GRACILE SYNDROME (disorder) 		0.700 1.000 4 2002 2012
dbSNP: rs28937590
rs28937590
BCS1L ; ZNF142
0.807 0.360 2 218661219 missense variant A/G snv 4.7E-04 4.1E-04
CUI: C3541471
Disease: MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 1
MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 1 		0.700 1.000 2 2002 2011
dbSNP: rs1447313633
rs1447313633
ZNF142
1.000 2 218649090 frameshift variant TT/- del
CUI: C1843367
Disease: Poor school performance
Poor school performance 		0.700 1.000 1 2019 2019
dbSNP: rs1447313633
rs1447313633
ZNF142
1.000 2 218649090 frameshift variant TT/- del
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.700 1.000 1 2019 2019
dbSNP: rs1447313633
rs1447313633
ZNF142
1.000 2 218649090 frameshift variant TT/- del
CUI: C0013421
Disease: Dystonia
Dystonia 		0.700 1.000 1 2019 2019
dbSNP: rs1447313633
rs1447313633
ZNF142
1.000 2 218649090 frameshift variant TT/- del
CUI: C0454644
Disease: Delayed speech and language development
Delayed speech and language development 		0.700 1.000 1 2019 2019
dbSNP: rs1559296368
rs1559296368
ZNF142
1.000 2 218646330 frameshift variant C/- del
CUI: C0013421
Disease: Dystonia
Dystonia 		0.700 1.000 1 2019 2019
dbSNP: rs1559296368
rs1559296368
ZNF142
1.000 2 218646330 frameshift variant C/- del
CUI: C0454644
Disease: Delayed speech and language development
Delayed speech and language development 		0.700 1.000 1 2019 2019
dbSNP: rs1559296368
rs1559296368
ZNF142
1.000 2 218646330 frameshift variant C/- del
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.700 1.000 1 2019 2019
dbSNP: rs1559296368
rs1559296368
ZNF142
1.000 2 218646330 frameshift variant C/- del
CUI: C1843367
Disease: Poor school performance
Poor school performance 		0.700 1.000 1 2019 2019
dbSNP: rs386833856
rs386833856
BCS1L ; ZNF142
1.000 0.240 2 218661308 splice donor variant G/C;T snv 4.0E-06; 1.2E-05
CUI: C1864002
Disease: GRACILE SYNDROME (disorder)
GRACILE SYNDROME (disorder) 		0.700 1.000 1 2002 2002
dbSNP: rs546151500
rs546151500
ZNF142
0.925 0.080 2 218643341 stop gained G/A;T snv 8.0E-06; 4.0E-06
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.700 1.000 1 2019 2019
dbSNP: rs546151500
rs546151500
ZNF142
0.925 0.080 2 218643341 stop gained G/A;T snv 8.0E-06; 4.0E-06
CUI: C0013421
Disease: Dystonia
Dystonia 		0.700 1.000 1 2019 2019
dbSNP: rs546151500
rs546151500
ZNF142
0.925 0.080 2 218643341 stop gained G/A;T snv 8.0E-06; 4.0E-06
CUI: C0454644
Disease: Delayed speech and language development
Delayed speech and language development 		0.700 1.000 1 2019 2019
dbSNP: rs546151500
rs546151500
ZNF142
0.925 0.080 2 218643341 stop gained G/A;T snv 8.0E-06; 4.0E-06
CUI: C0494475
Disease: Tonic - clonic seizures
Tonic - clonic seizures 		0.700 1.000 1 2019 2019
dbSNP: rs546151500
rs546151500
ZNF142
0.925 0.080 2 218643341 stop gained G/A;T snv 8.0E-06; 4.0E-06
CUI: C1843367
Disease: Poor school performance
Poor school performance 		0.700 1.000 1 2019 2019
dbSNP: rs1057516954
rs1057516954
BCS1L ; ZNF142
1.000 0.240 2 218661547 splice donor variant T/C snv 4.0E-06
CUI: C1864002
Disease: GRACILE SYNDROME (disorder)
GRACILE SYNDROME (disorder) 		0.700 0
dbSNP: rs1057517412
rs1057517412
BCS1L ; ZNF142
1.000 0.240 2 218661501 frameshift variant C/- delins 7.0E-06
CUI: C1864002
Disease: GRACILE SYNDROME (disorder)
GRACILE SYNDROME (disorder) 		0.700 0
dbSNP: rs121908572
rs121908572
BCS1L ; ZNF142
0.882 0.280 2 218661283 missense variant C/T snv
CUI: C1850598
Disease: Leigh Syndrome due to Mitochondrial Complex III Deficiency
Leigh Syndrome due to Mitochondrial Complex III Deficiency 		0.700 0