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: 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: rs1057519463
rs1057519463
HEXA
0.882 0.240 15 72349160 frameshift variant GAACTCAT/- delins
CUI: C1836830
Disease: Developmental regression
Developmental regression 		0.700 1.000 1 2014 2014
dbSNP: rs1057519467
rs1057519467
HEXA
0.925 0.160 15 72345540 missense variant C/T snv
CUI: C1836830
Disease: Developmental regression
Developmental regression 		0.700 1.000 1 2012 2012
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: rs762374961
rs762374961
HEXA
0.925 0.160 15 72346235 stop gained C/A;T snv
CUI: C1836830
Disease: Developmental regression
Developmental regression 		0.700 1.000 1 2014 2014
dbSNP: rs786204585
rs786204585
HEXA
0.925 0.160 15 72344139 stop gained G/A snv 7.0E-06
CUI: C1836830
Disease: Developmental regression
Developmental regression 		0.700 1.000 1 2014 2014
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: 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: 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: 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: 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: 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: 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
dbSNP: rs1555525115
rs1555525115
ANKRD11
0.851 0.360 16 89279567 frameshift variant GGCTTCGG/- delins
CUI: C1836830
Disease: Developmental regression
Developmental regression 		0.700 0
dbSNP: rs1555582065
rs1555582065
UBTF ; LOC101926967
0.827 0.160 17 44212851 missense variant C/T snv
CUI: C1836830
Disease: Developmental regression
Developmental regression 		0.700 0