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: 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: rs1057518843
rs1057518843
GALC
0.790 0.240 14 87988523 missense variant C/T snv
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: rs1057519465
rs1057519465
HEXA
0.925 0.160 15 72346598 stop gained C/T snv 4.0E-06
CUI: C1836830
Disease: Developmental regression
Developmental regression 		0.700 0
dbSNP: rs1057519466
rs1057519466
HEXA
0.925 0.160 15 72346307 frameshift variant G/- del
CUI: C1836830
Disease: Developmental regression
Developmental regression 		0.700 0
dbSNP: rs1057521737
rs1057521737
EP300
0.827 0.240 22 41173768 missense variant T/C snv
CUI: C1836830
Disease: Developmental regression
Developmental regression 		0.700 0
dbSNP: rs1057524820
rs1057524820
SCN8A
0.776 0.280 12 51765746 missense variant G/A;T snv
CUI: C1836830
Disease: Developmental regression
Developmental regression 		0.700 0
dbSNP: rs1060499679
rs1060499679
GNPTAB
0.851 0.280 12 101770496 inframe deletion GTG/- delins
CUI: C1836830
Disease: Developmental regression
Developmental regression 		0.700 0
dbSNP: rs112543062
rs112543062
GNPTAB
0.851 0.280 12 101770161 missense variant T/C;G snv 1.2E-05
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: rs121907978
rs121907978
HEXA
0.925 0.160 15 72346296 missense variant C/G;T snv
CUI: C1836830
Disease: Developmental regression
Developmental regression 		0.700 0
dbSNP: rs121908681
rs121908681
PLA2G6
0.851 0.160 22 38120867 missense variant T/C;G snv 2.4E-05
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: rs1247665387
rs1247665387
FA2H
0.807 0.360 16 74774623 missense variant C/A snv 7.0E-06
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: rs138504221
rs138504221
SGSH
0.807 0.280 17 80212128 missense variant A/G snv 9.6E-05 1.5E-04
CUI: C1836830
Disease: Developmental regression
Developmental regression 		0.700 0
dbSNP: rs1448259271
rs1448259271
IRF2BPL ; LOC107984638
0.790 0.240 14 77027279 stop gained C/A;T snv
CUI: C1836830
Disease: Developmental regression
Developmental regression 		0.700 0
dbSNP: rs148881970
rs148881970
NAGLU
0.724 0.360 17 42543840 missense variant A/G snv 5.4E-05 1.3E-04
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: 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: rs1553920379
rs1553920379
PPP3CA
0.776 0.160 4 101032294 frameshift variant -/AGTA 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: rs1554901898
rs1554901898
TPP1
0.776 0.280 11 6616858 frameshift variant A/- delins
CUI: C1836830
Disease: Developmental regression
Developmental regression 		0.700 0
dbSNP: rs1555377415
rs1555377415
IRF2BPL ; LOC107984638
0.827 0.200 14 77027274 stop gained G/C snv
CUI: C1836830
Disease: Developmental regression
Developmental regression 		0.700 0