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: rs576462794
rs576462794
CDK2AP1 ; C12orf65
1.000 12 123253884 frameshift variant A/- del 1.8E-04 1.5E-04
CUI: C3150801
Disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 7
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 7 		0.700 1.000 3 2010 2015
dbSNP: rs587776508
rs587776508
CDK2AP1 ; C12orf65
0.882 0.040 12 123253922 frameshift variant T/- del 4.0E-06
CUI: C3539506
Disease: SPASTIC PARAPLEGIA 55, AUTOSOMAL RECESSIVE
SPASTIC PARAPLEGIA 55, AUTOSOMAL RECESSIVE 		0.700 1.000 1 2010 2010
dbSNP: rs397514539
rs397514539
CDK2AP1 ; C12orf65
1.000 12 123256924 stop gained C/T snv 1.6E-05 7.0E-06
CUI: C3539506
Disease: SPASTIC PARAPLEGIA 55, AUTOSOMAL RECESSIVE
SPASTIC PARAPLEGIA 55, AUTOSOMAL RECESSIVE 		0.700 0
dbSNP: rs398122365
rs398122365
CDK2AP1 ; C12orf65
1.000 12 123256945 stop gained C/T snv
CUI: C3539506
Disease: SPASTIC PARAPLEGIA 55, AUTOSOMAL RECESSIVE
SPASTIC PARAPLEGIA 55, AUTOSOMAL RECESSIVE 		0.700 0
dbSNP: rs398122972
rs398122972
CDK2AP1 ; C12orf65
0.925 0.120 12 123256876 frameshift variant G/- del
CUI: C3539506
Disease: SPASTIC PARAPLEGIA 55, AUTOSOMAL RECESSIVE
SPASTIC PARAPLEGIA 55, AUTOSOMAL RECESSIVE 		0.700 0
dbSNP: rs587776508
rs587776508
CDK2AP1 ; C12orf65
0.882 0.040 12 123253922 frameshift variant T/- del 4.0E-06
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy 		0.700 0
dbSNP: rs587776508
rs587776508
CDK2AP1 ; C12orf65
0.882 0.040 12 123253922 frameshift variant T/- del 4.0E-06
CUI: C4021085
Disease: Abnormality of brain morphology
Abnormality of brain morphology 		0.700 0
dbSNP: rs587776508
rs587776508
CDK2AP1 ; C12orf65
0.882 0.040 12 123253922 frameshift variant T/- del 4.0E-06
CUI: C3150801
Disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 7
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 7 		0.700 0
dbSNP: rs587777667
rs587777667
CDK2AP1 ; C12orf65
1.000 12 123256941 frameshift variant AACAA/- delins
CUI: C3539506
Disease: SPASTIC PARAPLEGIA 55, AUTOSOMAL RECESSIVE
SPASTIC PARAPLEGIA 55, AUTOSOMAL RECESSIVE 		0.700 0
dbSNP: rs587777668
rs587777668
CDK2AP1 ; C12orf65
1.000 12 123253958 splice donor variant T/A snv
CUI: C3539506
Disease: SPASTIC PARAPLEGIA 55, AUTOSOMAL RECESSIVE
SPASTIC PARAPLEGIA 55, AUTOSOMAL RECESSIVE 		0.700 0
dbSNP: rs863223926
rs863223926
CDK2AP1 ; C12orf65
0.925 0.080 12 123253769 frameshift variant -/ATCC delins
CUI: C0037772
Disease: Spastic Paraplegia
Spastic Paraplegia 		0.700 0
dbSNP: rs863223926
rs863223926
CDK2AP1 ; C12orf65
0.925 0.080 12 123253769 frameshift variant -/ATCC delins
CUI: C3150801
Disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 7
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 7 		0.700 0