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: rs1064794254
rs1064794254
UPF3B
0.851 0.120 X 119841185 frameshift variant CT/- delins
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.700 1.000 3 2007 2012
dbSNP: rs1057516037
rs1057516037
HDAC8
0.925 X 72464626 protein altering variant TGGAG/AC delins
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.700 1.000 1 2016 2016
dbSNP: rs1057518699
rs1057518699
LAS1L
0.925 0.200 X 65524113 missense variant G/A snv
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.700 1.000 1 2016 2016
dbSNP: rs1557043622
rs1557043622
SLC35A2
0.695 0.400 X 48909843 missense variant C/A snv
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.700 1.000 1 2019 2019
dbSNP: rs398122394
rs398122394
ALG13
0.763 0.240 X 111685040 missense variant A/G snv
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.700 1.000 1 2013 2013
dbSNP: rs1057518853
rs1057518853
RPS6KA3
0.882 0.120 X 20161641 splice donor variant -/A delins
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.700 0
dbSNP: rs1057518921
rs1057518921
MED12
1.000 X 71132465 missense variant G/A snv
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.700 0
dbSNP: rs1057519338
rs1057519338
AMMECR1
0.882 X 110264571 stop gained G/A snv
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.700 0
dbSNP: rs1060499759
rs1060499759
ATRX
1.000 X 77688879 missense variant A/T snv
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.700 0
dbSNP: rs1060499760
rs1060499760
ATRX
1.000 X 77683580 missense variant G/A snv
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.700 0
dbSNP: rs1064793575
rs1064793575
SLC9A6
0.925 0.040 X 136016706 frameshift variant GT/- delins
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.700 0
dbSNP: rs1114167295
rs1114167295
MAGED2
0.827 0.160 X 54812169 frameshift variant C/- del
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.700 0
dbSNP: rs1114167296
rs1114167296
TMEM47
0.827 0.160 X 34656995 missense variant C/G snv
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.700 0
dbSNP: rs1131692227
rs1131692227
KDM5C
0.851 0.160 X 53194576 frameshift variant AGAGC/- delins
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.700 0
dbSNP: rs1131692230
rs1131692230
PDHA1
0.807 0.160 X 19353124 missense variant A/G snv
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.700 0
dbSNP: rs121434616
rs121434616
CUL4B
0.925 0.080 X 120544179 stop gained G/A snv
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.700 0
dbSNP: rs1555928716
rs1555928716
RPS6KA3
0.925 X 20167669 stop gained G/A snv
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.700 0
dbSNP: rs1555955296
rs1555955296
CDKL5
0.742 0.320 X 18628716 stop gained C/T snv
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.700 0
dbSNP: rs1555975523
rs1555975523
CASK
0.851 0.200 X 41534892 splice donor variant C/AT delins
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.700 0
dbSNP: rs1557036768
rs1557036768
HUWE1
0.708 0.320 X 53647390 missense variant C/T snv
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.700 0
dbSNP: rs1557134621
rs1557134621
MECP2
0.827 0.120 X 154030106 splice acceptor variant CCTAGTTTAGAAAAGTGCAAAGCTACTTCTGGCCCTGGTTAGGTCTTCAACCTGACTGTGCTTGTCGGTAAGAAAAACATCCCCAATGCTCCAACTACTCCCACCCTGAAGCCACGAAACTCTAAGTTTACTGAAAGAAAAAAAAATATTTTTTATTTCAGTTAATCGGGAAGCTTTGTCAGAGCCCTACCCATAAGGAGAAGAGACAACAGCTGCCTTTATTCTTGTTGGTTTGCTTTGCAATCCGCTCCGTGTAAAGTCAGCTAACTCTCTCGGTCACGGGCGTCCGGCTGTCCACAGGCTCCTCTCTGTTTGGCCTTGGCATGGAGGATGAAACAATGTCTTTGCGCTCTCCCTCCCCTCGGTGTTTGTACTTTTCTGCGGCCGTGGCGGCGGTGGCAACCGCGGGCTGAGTCTTAGCTGGCTCCTTGGGGCAGCCGTCGCTCTCCAGTGAGCCTCCTCTGGGCATCTTCTCCTCTTTGCAGACGCTGCTGCTCAAGTCCTGGGGCTCAGGGGGGCTGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAG/- delins
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.700 0
dbSNP: rs1569190079
rs1569190079
PDHA1
0.882 0.160 X 19350044 missense variant G/T snv
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.700 0
dbSNP: rs1569309484
rs1569309484
RLIM
0.807 0.200 X 74591586 missense variant A/G snv
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.700 0
dbSNP: rs1569356968
rs1569356968
SMC1A ; MIR6857
0.882 0.200 X 53405268 stop gained C/A snv
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.700 0
dbSNP: rs1569508922
rs1569508922
ALG13
0.882 0.160 X 111681268 missense variant T/A snv
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.700 0