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: rs1554122123
rs1554122123
CAMK2A
0.925 0.040 5 150251979 splice donor variant -/A delins
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.700 1.000 1 2017 2017
dbSNP: rs527656756
rs527656756
HAAO ; MTA3
0.716 0.400 2 42770143 frameshift variant -/A delins 1.7E-05 1.4E-05
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.700 1.000 1 2017 2017
dbSNP: rs797044523
rs797044523
DYRK1A ; LOC105372797
0.882 21 37480756 frameshift variant -/A delins
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.700 1.000 1 2015 2015
dbSNP: rs886039778
rs886039778
SON
0.925 0.120 21 33552303 frameshift variant -/A delins
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.700 1.000 1 2016 2016
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: rs1085308050
rs1085308050
PTEN
0.827 0.160 10 87933178 frameshift variant -/A delins
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.700 0
dbSNP: rs1163944538
rs1163944538
TMEM94
0.641 0.560 17 75494905 frameshift variant -/A delins 4.0E-06
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.700 0
dbSNP: rs756421370
rs756421370
MECR
0.807 0.120 1 29200513 splice donor variant -/A delins 1.4E-04 6.3E-05
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.700 0
dbSNP: rs1554121671
rs1554121671
SYNGAP1
1.000 6 33440746 frameshift variant -/AGGA delins
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.700 0
dbSNP: rs1057518848
rs1057518848
TCF4
0.827 0.240 18 55229003 frameshift variant -/ATTG delins
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.700 0
dbSNP: rs1555268712
rs1555268712
GNPTAB
0.882 0.160 12 101757459 coding sequence variant -/ATTTTAGAACAGTGCTTAATAGACAAAATATTGTAGAATTATAAAAAAGCCAGACCTTTGTGATTACTCTTATACTAAACAAAGGGAGTATGCGTGTACTACTTACCTATATTTGTTTTTGTCCTTATATGCTTTGTGGATTTTGTCAGTTACTGGTTTACAGTTTGTTACTAGACTTTTAGTGACCGGTGGCTATGAGAAAATATAA delins
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.700 0
dbSNP: rs1057518821
rs1057518821
SLC2A1
1.000 1 42930671 frameshift variant -/C delins
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.700 0
dbSNP: rs1085307139
rs1085307139
PUF60 ; SCRIB
0.925 0.040 8 143817380 frameshift variant -/C delins
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.700 0
dbSNP: rs1557607997
rs1557607997
MMACHC
0.925 0.160 1 45508296 frameshift variant -/C delins
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.700 0
dbSNP: rs730882200
rs730882200
ARFGEF2
0.882 0.040 20 48953604 frameshift variant -/C delins
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.700 0
dbSNP: rs1555639411
rs1555639411
BPTF
0.790 0.360 17 67894102 frameshift variant -/G delins
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.700 1.000 1 2017 2017
dbSNP: rs1555043939
rs1555043939
KMT2A
0.851 0.240 11 118496323 frameshift variant -/G delins
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.700 0
dbSNP: rs1567721991
rs1567721991
PRMT7
0.882 0.080 16 68347257 frameshift variant -/GCTCTCCG delins
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.700 0
dbSNP: rs730882224
rs730882224
PNKP
0.882 0.120 19 49861818 frameshift variant -/GTCGATGGCGACCCGTT delins
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.700 0
dbSNP: rs1564351388
rs1564351388
STXBP1
0.882 0.080 9 127666193 frameshift variant -/T delins
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.700 1.000 1 2016 2016
dbSNP: rs1085308052
rs1085308052
PTEN
0.851 0.160 10 87952144 frameshift variant -/T delins
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.700 0
dbSNP: rs1567815105
rs1567815105
ADGRG1
0.807 0.240 16 57660794 frameshift variant -/T delins
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.700 0
dbSNP: rs730882198
rs730882198
SPART
0.851 0.200 13 36314259 frameshift variant -/T delins 1.2E-05
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.700 0
dbSNP: rs730882227
rs730882227
OCLN
0.925 0.120 5 69509603 frameshift variant -/T delins
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.700 0
dbSNP: rs775835429
rs775835429
SLC19A3
0.925 0.040 2 227702236 frameshift variant -/TC delins 2.4E-05 2.1E-05
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.700 1.000 1 2016 2016