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: rs752746786
rs752746786
GNB1
0.742 0.560 1 1806503 missense variant A/C;G;T snv 4.0E-06
CUI: C1836830
Disease: Developmental regression
Developmental regression 		0.700 1.000 1 2016 2016
dbSNP: rs869312825
rs869312825
GNB1
0.827 0.120 1 1804548 start lost T/C snv
CUI: C1836830
Disease: Developmental regression
Developmental regression 		0.700 1.000 1 2016 2016
dbSNP: rs150726175
rs150726175
NMNAT1
0.776 0.200 1 9982630 missense variant G/A snv 7.0E-04 8.5E-04
CUI: C1836830
Disease: Developmental regression
Developmental regression 		0.700 0
dbSNP: rs878853321
rs878853321
GBA
0.925 0.160 1 155237474 missense variant C/A;G snv 4.0E-06
CUI: C1836830
Disease: Developmental regression
Developmental regression 		0.700 0
dbSNP: rs377510027
rs377510027
DARS1
0.827 0.240 2 135911447 missense variant A/G snv 1.2E-05
CUI: C1836830
Disease: Developmental regression
Developmental regression 		0.700 0
dbSNP: rs587777446
rs587777446
IFIH1
0.807 0.200 2 162273913 missense variant C/T snv 4.0E-06
CUI: C1836830
Disease: Developmental regression
Developmental regression 		0.700 0
dbSNP: rs113994063
rs113994063
EIF2B5
0.882 0.160 3 184140517 missense variant C/G;T snv 1.6E-05 2.8E-05
CUI: C1836830
Disease: Developmental regression
Developmental regression 		0.700 0
dbSNP: rs1380822792
rs1380822792
NAA15
0.882 0.080 4 139336933 frameshift variant CTTGA/- delins
CUI: C1836830
Disease: Developmental regression
Developmental regression 		0.700 0
dbSNP: rs1553920379
rs1553920379
PPP3CA
0.776 0.160 4 101032294 frameshift variant -/AGTA delins
CUI: C1836830
Disease: Developmental regression
Developmental regression 		0.700 0
dbSNP: rs796052243
rs796052243
SPATA5
0.695 0.520 4 122934574 inframe deletion CAA/- delins
CUI: C1836830
Disease: Developmental regression
Developmental regression 		0.700 0
dbSNP: rs1554317002
rs1554317002
CDK13 ; LOC112267983
0.724 0.440 7 39950821 frameshift variant C/- delins
CUI: C1836830
Disease: Developmental regression
Developmental regression 		0.700 0
dbSNP: rs387907260
rs387907260
KCTD7
0.776 0.280 7 66633410 missense variant C/T snv 4.0E-06 1.4E-05
CUI: C1836830
Disease: Developmental regression
Developmental regression 		0.700 0
dbSNP: rs397507478
rs397507478
BRAF
0.790 0.440 7 140777014 missense variant C/A snv
CUI: C1836830
Disease: Developmental regression
Developmental regression 		0.700 0
dbSNP: rs796052686
rs796052686
KCTD7
0.776 0.280 7 66638394 missense variant G/A snv 1.2E-05
CUI: C1836830
Disease: Developmental regression
Developmental regression 		0.700 0
dbSNP: rs869312878
rs869312878
AUTS2
0.882 0.160 7 70766130 frameshift variant -/C delins
CUI: C1836830
Disease: Developmental regression
Developmental regression 		0.700 0
dbSNP: rs1224421127
rs1224421127
NDUFAF6
1.000 0.040 8 95052198 missense variant C/G snv 8.0E-06
CUI: C1836830
Disease: Developmental regression
Developmental regression 		0.700 0
dbSNP: rs1057519437
rs1057519437
EBF3
0.851 0.240 10 129957300 missense variant C/T snv
CUI: C1836830
Disease: Developmental regression
Developmental regression 		0.700 0
dbSNP: rs150321966
rs150321966
ECHS1
0.925 0.040 10 133366990 missense variant G/A snv 2.6E-04 1.3E-04
CUI: C1836830
Disease: Developmental regression
Developmental regression 		0.700 0
dbSNP: rs754609693
rs754609693
ECHS1
0.925 0.040 10 133366967 missense variant G/A snv 1.6E-05 1.4E-05
CUI: C1836830
Disease: Developmental regression
Developmental regression 		0.700 0
dbSNP: rs876660634
rs876660634
PTEN
0.807 0.200 10 87925551 missense variant A/C;G snv
CUI: C1836830
Disease: Developmental regression
Developmental regression 		0.700 0
dbSNP: rs1057524157
rs1057524157
DEAF1
0.776 0.200 11 686962 missense variant A/C;T snv
CUI: C1836830
Disease: Developmental regression
Developmental regression 		0.700 1.000 2 2017 2017
dbSNP: rs1057519565
rs1057519565
DEAF1
0.851 0.200 11 687941 missense variant C/T snv
CUI: C1836830
Disease: Developmental regression
Developmental regression 		0.700 1.000 1 2017 2017
dbSNP: rs1057516264
rs1057516264
TPP1
0.776 0.280 11 6614968 frameshift variant C/-;CC delins
CUI: C1836830
Disease: Developmental regression
Developmental regression 		0.700 0
dbSNP: rs1057516945
rs1057516945
TPP1
0.925 0.160 11 6616973 splice donor variant A/C snv
CUI: C1836830
Disease: Developmental regression
Developmental regression 		0.700 0
dbSNP: rs1554901898
rs1554901898
TPP1
0.776 0.280 11 6616858 frameshift variant A/- delins
CUI: C1836830
Disease: Developmental regression
Developmental regression 		0.700 0