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: rs1569509136
rs1569509136
HUWE1
0.708 0.400 X 53647576 splice acceptor variant T/C snv
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.700 0
dbSNP: rs1569513017
rs1569513017
ATRX
1.000 X 77508625 frameshift variant A/- del
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.700 0
dbSNP: rs1569525894
rs1569525894
SLC9A6
0.790 0.280 X 136040055 frameshift variant TCTTCCTTAACCACCGC/- delins
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.700 0
dbSNP: rs1569547876
rs1569547876
MAGT1
1.000 X 77841252 stop gained G/A snv
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.700 0
dbSNP: rs1569548274
rs1569548274
MECP2
0.701 0.520 X 154030553 splice acceptor variant TCCAGTGAGCCTCCTCTGGGCATCTTCTCCTCTTTGCAGACGCTGCTGCTCAAGTCCTGGGGCTCAGGGGGGCTGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGTGGGAGCAGTGGCACGGGGGCCTTTGGGGACTCTGAGTGGTGGTGATGGTGGTGGTGCTCCTTCTTGGGGGGTGAGGAGGCGCTGCTGCTGCGCCCCTTGGGGCTGCTCTCCTTGCTTTTCCGCCCAGGGCTCTTACAGGTCTTCAGTCCTTTCCCGCTCTTCTCACCGAGGGTGGACACCAGCAGGGGCTTCACCACTTCCTTGACCTCGATGCTGACCGTCTCCCGGGTCTTGCGCTTCTTGATGGGGAGTACGGTCTCCTGCACAGATCGGATAGAAGACTCCTTCACGGCTTTCTTTTTGGCCTCGGCGGCAGCGGCTGCCACCACACTCCCCGGCTTTCGGCCCCGTTTCTTGGGAATGGCCTGAGGGTCGGCCTCAGCTTTTCGCTTCCTGCCGGGGCGTTTGATCACCATGACCTGGGTGGATGTGGTGGCCCCACCCCCCTCAGC/- delins
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.700 0
dbSNP: rs28934907
rs28934907
MECP2
0.732 0.320 X 154032268 missense variant G/A;C snv
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.700 0
dbSNP: rs373260156
rs373260156
MAGT1
1.000 X 77830825 missense variant T/C;G snv 1.2E-05
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.700 0
dbSNP: rs387907329
rs387907329
WDR45 ; PRAF2
0.827 0.200 X 49075573 stop gained G/A;T snv 5.5E-06
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.700 0
dbSNP: rs397515415
rs397515415
HDAC8
0.807 0.240 X 72495216 stop gained G/A;T snv
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.700 0
dbSNP: rs587783405
rs587783405
CDKL5
0.851 0.160 X 18588021 stop gained C/T snv
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.700 0
dbSNP: rs61748421
rs61748421
MECP2
0.807 0.200 X 154031326 stop gained G/A;T snv
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.700 0
dbSNP: rs61749721
rs61749721
MECP2
0.732 0.200 X 154031065 stop gained G/A snv
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.700 0
dbSNP: rs72554640
rs72554640
ATP7A ; PGK1
0.882 0.160 X 78011239 stop gained C/T snv
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.700 0
dbSNP: rs727503773
rs727503773
SMC1A
0.882 0.160 X 53412950 inframe deletion TCT/- delins
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.700 0
dbSNP: rs758946412
rs758946412
PCDH19
0.790 0.240 X 100407507 frameshift variant G/-;GG delins
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.700 0
dbSNP: rs782596945
rs782596945
ATP2B3
0.851 0.120 X 153580229 missense variant G/A;T snv 5.5E-06
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.700 0
dbSNP: rs80338758
rs80338758
MED12
0.790 0.400 X 71127367 missense variant C/A;T snv
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.700 0
dbSNP: rs864309532
rs864309532
PHF6
0.807 0.360 X 134393952 missense variant G/A snv
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.700 0
dbSNP: rs875989803
rs875989803
DDX3X
0.827 0.200 X 41343249 stop gained G/T snv
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.700 0
dbSNP: rs886041936
rs886041936
HDAC8
0.827 0.120 X 72495210 stop gained G/A snv
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.700 0
dbSNP: rs1034395178
rs1034395178
LZTR1
0.716 0.480 22 20996071 stop gained C/A;T snv 4.0E-06; 8.0E-06
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.700 1.000 1 2018 2018
dbSNP: rs372949028
rs372949028
TANGO2
0.827 0.240 22 20061684 splice donor variant G/A;C snv 7.1E-05 5.6E-05
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.700 1.000 1 2016 2016
dbSNP: rs1057519444
rs1057519444
SYN3
0.925 0.120 22 32518208 missense variant GG/AA mnv
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.700 0
dbSNP: rs1064795559
rs1064795559
MORC2
0.752 0.320 22 30946373 missense variant G/A snv
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.700 0
dbSNP: rs121908681
rs121908681
PLA2G6
0.851 0.160 22 38120867 missense variant T/C;G snv 2.4E-05
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.700 0