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: rs796052243
rs796052243
SPATA5
0.695 0.520 4 122934574 inframe deletion CAA/- delins
CUI: C1836830
Disease: Developmental regression
Developmental regression 		0.700 0
dbSNP: rs752298579
rs752298579
TANGO2
0.701 0.480 22 20061538 missense variant G/A snv 1.4E-04 7.0E-06
CUI: C1836830
Disease: Developmental regression
Developmental regression 		0.700 1.000 1 2016 2016
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: 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: 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: 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: 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: 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: 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: 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
dbSNP: rs878853250
rs878853250
SCN8A
0.752 0.360 12 51699663 stop gained T/A;C snv
CUI: C1836830
Disease: Developmental regression
Developmental regression 		0.700 0
dbSNP: rs267608327
rs267608327
MECP2
0.763 0.200 X 154030631 splice acceptor variant CCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGT/- delins
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: 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: 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: 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: rs1554901898
rs1554901898
TPP1
0.776 0.280 11 6616858 frameshift variant A/- delins
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: 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: 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: 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: 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: rs397507478
rs397507478
BRAF
0.790 0.440 7 140777014 missense variant C/A snv
CUI: C1836830
Disease: Developmental regression
Developmental regression 		0.700 0