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: rs28937578
rs28937578
EP300 ; EP300-AS1
1.000 0.080 22 41178373 missense variant C/A;T snv 8.0E-06
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		0.800 0
dbSNP: rs1057519375
rs1057519375
EP300 ; EP300-AS1
1.000 0.120 22 41178931 frameshift variant CA/- delins
CUI: C3150941
Disease: RUBINSTEIN-TAYBI SYNDROME 2
RUBINSTEIN-TAYBI SYNDROME 2 		0.700 1.000 1 2015 2015
dbSNP: rs1210404526
rs1210404526
EP300 ; EP300-AS1
0.925 0.120 22 41177712 missense variant C/G;T snv 4.0E-06
CUI: C1837249
Disease: Malformations of Cortical Development, Group II
Malformations of Cortical Development, Group II 		0.700 1.000 1 2018 2018
dbSNP: rs1210404526
rs1210404526
EP300 ; EP300-AS1
0.925 0.120 22 41177712 missense variant C/G;T snv 4.0E-06
CUI: C3150941
Disease: RUBINSTEIN-TAYBI SYNDROME 2
RUBINSTEIN-TAYBI SYNDROME 2 		0.700 1.000 1 2018 2018
dbSNP: rs139310551
rs139310551
EP300 ; EP300-AS1
1.000 0.120 22 41176400 stop gained C/A;T snv
CUI: C3150941
Disease: RUBINSTEIN-TAYBI SYNDROME 2
RUBINSTEIN-TAYBI SYNDROME 2 		0.700 1.000 1 2015 2015
dbSNP: rs1555912040
rs1555912040
EP300 ; EP300-AS1
1.000 0.120 22 41176420 frameshift variant -/ATGT delins
CUI: C3150941
Disease: RUBINSTEIN-TAYBI SYNDROME 2
RUBINSTEIN-TAYBI SYNDROME 2 		0.700 1.000 1 2015 2015
dbSNP: rs587778256
rs587778256
EP300 ; EP300-AS1
1.000 0.120 22 41178337 inframe deletion CCAGTTCCAGCA/- delins 1.6E-03 1.7E-03
CUI: C3150941
Disease: RUBINSTEIN-TAYBI SYNDROME 2
RUBINSTEIN-TAYBI SYNDROME 2 		0.700 1.000 1 2015 2015
dbSNP: rs1057517732
rs1057517732
EP300 ; EP300-AS1
1.000 0.120 22 41176250 missense variant T/G snv
CUI: C3150941
Disease: RUBINSTEIN-TAYBI SYNDROME 2
RUBINSTEIN-TAYBI SYNDROME 2 		0.700 0
dbSNP: rs1555912238
rs1555912238
EP300 ; EP300-AS1
1.000 0.120 22 41177907 stop gained C/T snv
CUI: C3150941
Disease: RUBINSTEIN-TAYBI SYNDROME 2
RUBINSTEIN-TAYBI SYNDROME 2 		0.700 0
dbSNP: rs1569122847
rs1569122847
EP300 ; EP300-AS1
1.000 0.120 22 41178809 frameshift variant C/- delins
CUI: C3150941
Disease: RUBINSTEIN-TAYBI SYNDROME 2
RUBINSTEIN-TAYBI SYNDROME 2 		0.700 0
dbSNP: rs797045559
rs797045559
EP300 ; EP300-AS1
1.000 0.120 22 41176301 frameshift variant -/T delins
CUI: C3150941
Disease: RUBINSTEIN-TAYBI SYNDROME 2
RUBINSTEIN-TAYBI SYNDROME 2 		0.700 0
dbSNP: rs797045560
rs797045560
EP300 ; EP300-AS1
1.000 0.120 22 41178623 frameshift variant TCAA/- delins
CUI: C3150941
Disease: RUBINSTEIN-TAYBI SYNDROME 2
RUBINSTEIN-TAYBI SYNDROME 2 		0.700 0
dbSNP: rs875989807
rs875989807
EP300 ; EP300-AS1
0.925 0.120 22 41178278 inframe deletion CAGCAGCAACAG/- delins 2.4E-04
CUI: C3150941
Disease: RUBINSTEIN-TAYBI SYNDROME 2
RUBINSTEIN-TAYBI SYNDROME 2 		0.700 0
dbSNP: rs875989807
rs875989807
EP300 ; EP300-AS1
0.925 0.120 22 41178278 inframe deletion CAGCAGCAACAG/- delins 2.4E-04
CUI: C1737329
Disease: Dysmorphism
Dysmorphism 		0.700 0
dbSNP: rs875989807
rs875989807
EP300 ; EP300-AS1
0.925 0.120 22 41178278 inframe deletion CAGCAGCAACAG/- delins 2.4E-04
CUI: C1843367
Disease: Poor school performance
Poor school performance 		0.700 0