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: rs1555582065
rs1555582065
UBTF ; LOC101926967
0.827 0.160 17 44212851 missense variant C/T snv
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.700 1.000 1 2018 2018
dbSNP: rs1555639076
rs1555639076
BPTF
0.790 0.400 17 67893677 splice donor variant A/- delins
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.700 1.000 1 2017 2017
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: rs1555649483
rs1555649483
BPTF
0.851 0.200 17 67909751 splice donor variant GAAGGACCAAGG/- del
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.700 1.000 1 2017 2017
dbSNP: rs1555652383
rs1555652383
BPTF
0.807 0.160 17 67912720 frameshift variant TG/- delins
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.700 1.000 1 2017 2017
dbSNP: rs1555693714
rs1555693714
BPTF
0.882 0.120 17 67975933 stop gained A/T snv
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.700 1.000 1 2017 2017
dbSNP: rs1555883505
rs1555883505
EEF1A2
0.827 0.160 20 63490712 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: rs1559296368
rs1559296368
ZNF142
1.000 2 218646330 frameshift variant C/- del
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.700 1.000 1 2019 2019
dbSNP: rs1562846694
rs1562846694
TFR2 ; ACTL6B
0.763 0.320 7 100643252 inframe deletion TTCGCTCCACGCACT/- delins
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.700 1.000 1 2019 2019
dbSNP: rs1563686762
rs1563686762
RAD21 ; UTP23
0.790 0.280 8 116847620 inframe deletion GTT/- delins
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.700 1.000 1 2019 2019
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: rs369634007
rs369634007
TMEM87B
0.882 0.080 2 112098688 missense variant A/G snv 1.6E-05 2.1E-05
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.700 1.000 1 2016 2016
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: rs375002796
rs375002796
MDH2
0.851 0.160 7 76058047 missense variant C/T snv 5.2E-05 2.8E-05
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.700 1.000 1 2017 2017
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: rs431905504
rs431905504
SLC6A3
0.776 0.280 5 1411242 splice donor variant C/T snv 6.4E-06
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.700 1.000 1 2012 2012
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: rs546151500
rs546151500
ZNF142
0.925 0.080 2 218643341 stop gained G/A;T snv 8.0E-06; 4.0E-06
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.700 1.000 1 2019 2019
dbSNP: rs587779349
rs587779349
BRCA2
0.776 0.280 13 32380040 frameshift variant C/- delins
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.700 1.000 1 2014 2014
dbSNP: rs587779766
rs587779766
AHDC1
0.851 0.200 1 27549742 frameshift variant CA/- delins
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.700 1.000 1 2014 2014
dbSNP: rs587779767
rs587779767
AHDC1
0.851 0.200 1 27549218 frameshift variant G/- delins
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.700 1.000 1 2014 2014
dbSNP: rs587779768
rs587779768
AHDC1
0.851 0.200 1 27549569 frameshift variant G/- delins
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.700 1.000 1 2014 2014
dbSNP: rs724159949
rs724159949
DYRK1A ; LOC105372797
0.827 0.240 21 37486563 stop gained C/T snv
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.700 1.000 1 2015 2015
dbSNP: rs748787734
rs748787734
TUBB4A
0.827 0.240 19 6495437 missense variant G/A;C snv 1.2E-05
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.700 1.000 1 2014 2014