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: 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: 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: 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: 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
dbSNP: rs1555955296
rs1555955296
CDKL5
0.742 0.320 X 18628716 stop gained C/T snv
CUI: C1836830
Disease: Developmental regression
Developmental regression 		0.700 0
dbSNP: rs1564855725
rs1564855725
TPP1
0.882 0.160 11 6617621 splice region variant C/T snv
CUI: C1836830
Disease: Developmental regression
Developmental regression 		0.700 0
dbSNP: rs1566785990
rs1566785990
IRF2BPL ; LOC107984638
0.851 0.120 14 77026534 missense variant A/G snv
CUI: C1836830
Disease: Developmental regression
Developmental regression 		0.700 0
dbSNP: rs1568427678
rs1568427678
GCDH
0.882 0.160 19 12896243 missense variant G/C snv
CUI: C1836830
Disease: Developmental regression
Developmental regression 		0.700 0
dbSNP: rs28934906
rs28934906
MECP2
0.716 0.320 X 154031355 missense variant G/A snv
CUI: C1836830
Disease: Developmental regression
Developmental regression 		0.700 0
dbSNP: rs28934907
rs28934907
MECP2
0.732 0.320 X 154032268 missense variant G/A;C snv
CUI: C1836830
Disease: Developmental regression
Developmental regression 		0.700 0
dbSNP: rs28935468
rs28935468
MECP2
0.732 0.240 X 154030912 missense variant G/A snv
CUI: C1836830
Disease: Developmental regression
Developmental regression 		0.700 0
dbSNP: rs370266293
rs370266293
HEXA
0.925 0.160 15 72346679 missense variant C/G;T snv 1.0E-04
CUI: C1836830
Disease: Developmental regression
Developmental regression 		0.700 0
dbSNP: rs377274761
rs377274761
GALC
0.776 0.240 14 87968393 missense variant C/T snv 8.0E-06 2.8E-05
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: 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: rs529855742
rs529855742
SGSH
0.827 0.320 17 80214291 missense variant G/A snv 1.2E-05 1.4E-05
CUI: C1836830
Disease: Developmental regression
Developmental regression 		0.700 0
dbSNP: rs553522118
rs553522118
TPP1
0.882 0.160 11 6617338 stop gained G/A;T snv
CUI: C1836830
Disease: Developmental regression
Developmental regression 		0.700 0
dbSNP: rs555145190
rs555145190
NAGLU
0.732 0.360 17 42543921 stop gained G/A;C;T snv 4.2E-06
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: rs587784347
rs587784347
PLA2G6
0.742 0.280 22 38113561 missense variant G/A snv 8.0E-06
CUI: C1836830
Disease: Developmental regression
Developmental regression 		0.700 0