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: rs1468231556
rs1468231556
ERCC8
1.000 0.160 5 60902458 frameshift variant -/A delins 1.4E-05
CUI: C0751039
Disease: Cockayne Syndrome, Type I
Cockayne Syndrome, Type I 		0.700 1.000 1 2012 2012
dbSNP: rs1554073177
rs1554073177
ERCC8
1.000 0.160 5 60899693 stop gained -/TCTCA delins
CUI: C0751039
Disease: Cockayne Syndrome, Type I
Cockayne Syndrome, Type I 		0.700 0
dbSNP: rs1554076324
rs1554076324
ERCC8 ; NDUFAF2
1.000 5 60945358 frameshift variant A/- del
CUI: C4748768
Disease: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 10
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 10 		0.700 0
dbSNP: rs1554076239
rs1554076239
ERCC8 ; NDUFAF2
1.000 0.160 5 60944930 splice donor variant A/C snv
CUI: C0751039
Disease: Cockayne Syndrome, Type I
Cockayne Syndrome, Type I 		0.700 0
dbSNP: rs1554076306
rs1554076306
ERCC8 ; NDUFAF2
1.000 5 60945256 start lost A/T snv
CUI: C4748768
Disease: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 10
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 10 		0.700 0
dbSNP: rs774542633
rs774542633
ERCC8 ; ERCC8-AS1
1.000 0.160 5 60918266 frameshift variant ATGTA/- delins 4.0E-06
CUI: C0751039
Disease: Cockayne Syndrome, Type I
Cockayne Syndrome, Type I 		0.700 1.000 1 2017 2017
dbSNP: rs1554072713
rs1554072713
ERCC8
1.000 0.160 5 60891002 frameshift variant C/- del
CUI: C0751039
Disease: Cockayne Syndrome, Type I
Cockayne Syndrome, Type I 		0.700 0
dbSNP: rs1554073175
rs1554073175
ERCC8
1.000 0.160 5 60899666 frameshift variant C/- del
CUI: C0751039
Disease: Cockayne Syndrome, Type I
Cockayne Syndrome, Type I 		0.700 0
dbSNP: rs121434324
rs121434324
ERCC8 ; NDUFAF2
1.000 0.160 5 60944972 stop gained C/A snv 7.6E-05 4.9E-05
CUI: C0751039
Disease: Cockayne Syndrome, Type I
Cockayne Syndrome, Type I 		0.710 1.000 1 2004 2010
dbSNP: rs1305258765
rs1305258765
ERCC8
1.000 0.160 5 60898275 splice donor variant C/A snv 7.0E-06
CUI: C0751039
Disease: Cockayne Syndrome, Type I
Cockayne Syndrome, Type I 		0.700 0
dbSNP: rs281875221
rs281875221
ERCC8
1.000 5 60887479 missense variant C/A snv
CUI: C3553298
Disease: UV-SENSITIVE SYNDROME 2
UV-SENSITIVE SYNDROME 2 		0.800 1.000 0 2009 2009
dbSNP: rs1043679457
rs1043679457
ERCC8
0.752 0.400 5 60927745 intron variant C/A;G;T snv
CUI: C3489733
Disease: Oculomotor apraxia
Oculomotor apraxia 		0.700 0
dbSNP: rs1043679457
rs1043679457
ERCC8
0.752 0.400 5 60927745 intron variant C/A;G;T snv
CUI: C0349588
Disease: Short stature
Short stature 		0.700 0
dbSNP: rs1043679457
rs1043679457
ERCC8
0.752 0.400 5 60927745 intron variant C/A;G;T snv
CUI: C0426415
Disease: Large nose
Large nose 		0.700 0
dbSNP: rs1043679457
rs1043679457
ERCC8
0.752 0.400 5 60927745 intron variant C/A;G;T snv
CUI: C1857644
Disease: Retinal pigment epithelial mottling
Retinal pigment epithelial mottling 		0.700 0
dbSNP: rs1043679457
rs1043679457
ERCC8
0.752 0.400 5 60927745 intron variant C/A;G;T snv
CUI: C1861866
Disease: Aplasia/Hypoplasia of the corpus callosum
Aplasia/Hypoplasia of the corpus callosum 		0.700 0
dbSNP: rs1043679457
rs1043679457
ERCC8
0.752 0.400 5 60927745 intron variant C/A;G;T snv
CUI: C0277960
Disease: Dry hair
Dry hair 		0.700 0
dbSNP: rs1043679457
rs1043679457
ERCC8
0.752 0.400 5 60927745 intron variant C/A;G;T snv
CUI: C0554970
Disease: Pallor of optic disc
Pallor of optic disc 		0.700 0
dbSNP: rs1043679457
rs1043679457
ERCC8
0.752 0.400 5 60927745 intron variant C/A;G;T snv
CUI: C0003079
Disease: Anisocoria
Anisocoria 		0.700 0
dbSNP: rs1043679457
rs1043679457
ERCC8
0.752 0.400 5 60927745 intron variant C/A;G;T snv
CUI: C1846460
Disease: Abnormality of the outer ear
Abnormality of the outer ear 		0.700 0
dbSNP: rs1043679457
rs1043679457
ERCC8
0.752 0.400 5 60927745 intron variant C/A;G;T snv
CUI: C4025692
Disease: Abnormality of calvarial morphology
Abnormality of calvarial morphology 		0.700 0
dbSNP: rs1043679457
rs1043679457
ERCC8
0.752 0.400 5 60927745 intron variant C/A;G;T snv
CUI: C0151611
Disease: Electroencephalogram abnormal
Electroencephalogram abnormal 		0.700 0
dbSNP: rs1043679457
rs1043679457
ERCC8
0.752 0.400 5 60927745 intron variant C/A;G;T snv
CUI: C0152025
Disease: Polyneuropathy
Polyneuropathy 		0.700 0
dbSNP: rs1043679457
rs1043679457
ERCC8
0.752 0.400 5 60927745 intron variant C/A;G;T snv
CUI: C2315100
Disease: Pediatric failure to thrive
Pediatric failure to thrive 		0.700 0
dbSNP: rs1043679457
rs1043679457
ERCC8
0.752 0.400 5 60927745 intron variant C/A;G;T snv
CUI: C1844806
Disease: Weight less than 3rd percentile
Weight less than 3rd percentile 		0.700 0