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: rs1555902247
rs1555902247
EP300
1.000 0.120 22 41093071 frameshift variant TC/- delins
CUI: C3150941
Disease: RUBINSTEIN-TAYBI SYNDROME 2
RUBINSTEIN-TAYBI SYNDROME 2 		0.700 0
dbSNP: rs886037664
rs886037664
EP300
1.000 0.120 22 41117194 frameshift variant CTCT/- delins
CUI: C3150941
Disease: RUBINSTEIN-TAYBI SYNDROME 2
RUBINSTEIN-TAYBI SYNDROME 2 		0.700 1.000 2 2014 2016
dbSNP: rs1555905780
rs1555905780
EP300
22 41117361 frameshift variant C/- delins
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.700 1.000 19 1963 2016
dbSNP: rs1569090642
rs1569090642
EP300
1.000 0.120 22 41117728 frameshift variant G/- delins
CUI: C3150941
Disease: RUBINSTEIN-TAYBI SYNDROME 2
RUBINSTEIN-TAYBI SYNDROME 2 		0.700 0
dbSNP: rs876661318
rs876661318
EP300
1.000 0.120 22 41125902 inframe deletion TATACTCAGAATCCTGGA/- delins
CUI: C3150941
Disease: RUBINSTEIN-TAYBI SYNDROME 2
RUBINSTEIN-TAYBI SYNDROME 2 		0.700 0
dbSNP: rs1555907278
rs1555907278
EP300
22 41127646 stop gained C/T snv
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.700 1.000 19 1963 2016
dbSNP: rs1555907749
rs1555907749
EP300
22 41131612 frameshift variant -/T delins
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.700 1.000 19 1963 2016
dbSNP: rs137853038
rs137853038
EP300
1.000 0.080 22 41137768 stop gained C/T snv
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		0.700 0
dbSNP: rs137853039
rs137853039
EP300
1.000 0.120 22 41141111 stop gained C/T snv
CUI: C3150941
Disease: RUBINSTEIN-TAYBI SYNDROME 2
RUBINSTEIN-TAYBI SYNDROME 2 		0.700 0
dbSNP: rs1057519012
rs1057519012
EP300
1.000 22 41147864 frameshift variant -/G delins
CUI: C0683322
Disease: Mental impairment
Mental impairment 		0.700 0
dbSNP: rs1057519012
rs1057519012
EP300
1.000 22 41147864 frameshift variant -/G delins
CUI: C4551563
Disease: Microcephaly (physical finding)
Microcephaly (physical finding) 		0.700 0
dbSNP: rs879253873
rs879253873
EP300
1.000 0.120 22 41147866 frameshift variant -/C delins
CUI: C3150941
Disease: RUBINSTEIN-TAYBI SYNDROME 2
RUBINSTEIN-TAYBI SYNDROME 2 		0.700 0
dbSNP: rs1569108381
rs1569108381
EP300
1.000 0.120 22 41151890 frameshift variant CACAGAAG/- delins
CUI: C3150941
Disease: RUBINSTEIN-TAYBI SYNDROME 2
RUBINSTEIN-TAYBI SYNDROME 2 		0.700 0
dbSNP: rs1555909666
rs1555909666
EP300
0.925 0.200 22 41151998 stop gained G/T snv
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		0.700 0
dbSNP: rs1555909666
rs1555909666
EP300
0.925 0.200 22 41151998 stop gained G/T snv
CUI: C3150941
Disease: RUBINSTEIN-TAYBI SYNDROME 2
RUBINSTEIN-TAYBI SYNDROME 2 		0.700 0
dbSNP: rs1555909697
rs1555909697
EP300
1.000 0.120 22 41152277 frameshift variant AAAGA/- delins
CUI: C3150941
Disease: RUBINSTEIN-TAYBI SYNDROME 2
RUBINSTEIN-TAYBI SYNDROME 2 		0.700 0
dbSNP: rs886041830
rs886041830
EP300
1.000 0.120 22 41155015 stop gained C/T snv
CUI: C3150941
Disease: RUBINSTEIN-TAYBI SYNDROME 2
RUBINSTEIN-TAYBI SYNDROME 2 		0.700 1.000 1 2015 2015
dbSNP: rs1555910114
rs1555910114
EP300
1.000 0.120 22 41157167 splice acceptor variant A/G snv
CUI: C4551859
Disease: RUBINSTEIN-TAYBI SYNDROME 1
RUBINSTEIN-TAYBI SYNDROME 1 		0.700 0
dbSNP: rs565779970
rs565779970
EP300
0.925 0.120 22 41158483 stop gained T/A;C snv 3.2E-05
CUI: C3150941
Disease: RUBINSTEIN-TAYBI SYNDROME 2
RUBINSTEIN-TAYBI SYNDROME 2 		0.700 1.000 1 2005 2005
dbSNP: rs565779970
rs565779970
EP300
0.925 0.120 22 41158483 stop gained T/A;C snv 3.2E-05
CUI: C4551859
Disease: RUBINSTEIN-TAYBI SYNDROME 1
RUBINSTEIN-TAYBI SYNDROME 1 		0.700 0
dbSNP: rs1555910482
rs1555910482
EP300
1.000 0.120 22 41162733 frameshift variant AGAA/- delins
CUI: C3150941
Disease: RUBINSTEIN-TAYBI SYNDROME 2
RUBINSTEIN-TAYBI SYNDROME 2 		0.700 0
dbSNP: rs1114167305
rs1114167305
EP300
1.000 0.120 22 41162784 splice region variant G/C snv
CUI: C3150941
Disease: RUBINSTEIN-TAYBI SYNDROME 2
RUBINSTEIN-TAYBI SYNDROME 2 		0.700 1.000 1 2015 2015
dbSNP: rs1555910602
rs1555910602
EP300
1.000 0.120 22 41164055 inframe deletion TTG/- delins
CUI: C3150941
Disease: RUBINSTEIN-TAYBI SYNDROME 2
RUBINSTEIN-TAYBI SYNDROME 2 		0.700 0
dbSNP: rs1555910821
rs1555910821
EP300
1.000 0.120 22 41166649 missense variant A/G snv
CUI: C3150941
Disease: RUBINSTEIN-TAYBI SYNDROME 2
RUBINSTEIN-TAYBI SYNDROME 2 		0.700 0
dbSNP: rs1555911098
rs1555911098
EP300
22 41168719 splice acceptor variant A/G snv
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		0.700 1.000 19 1963 2016