ClinVar Miner

List of variants reported as likely pathogenic for Rubinstein-Taybi syndrome

Included ClinVar conditions (5):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 36
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HGVS dbSNP
NC_000016.10:g.(?_3736016)_(3736835_?)dup
NC_000016.10:g.(?_3736630)_(3740569_?)dup
NC_000016.10:g.(?_3744874)_(3758992_?)del
NC_000016.10:g.(?_3767700)_(3767929_?)dup
NM_001429.3(EP300):c.3734_3736delTTG (p.Val1245del) rs1555910602
NM_001429.3(EP300):c.4371_4376delACCCAA (p.Ile1457_Lys1459delinsMet) rs1555911316
NM_001429.3(EP300):c.4452+5G>T rs1555911334
NM_001429.3(EP300):c.4505C>T (p.Pro1502Leu) rs1555911573
NM_001429.3(EP300):c.6001C>T (p.Pro2001Ser) rs1210404526
NM_001429.3(EP300):c.6196C>T (p.Gln2066Ter) rs1555912238
NM_001429.3(EP300):c.6574_6585delCAGCAGCAACAG (p.Gln2192_Gln2195del) rs875989807
NM_004380.2(CREBBP):c.1738G>A (p.Ala580Thr)
NM_004380.2(CREBBP):c.2031delC (p.Ile678Serfs) rs1555483716
NM_004380.2(CREBBP):c.3490G>C (p.Ala1164Pro) rs797045492
NM_004380.2(CREBBP):c.3500A>G (p.Tyr1167Cys) rs587783481
NM_004380.2(CREBBP):c.3512C>G (p.Thr1171Arg)
NM_004380.2(CREBBP):c.37A>G (p.Lys13Glu) rs587783484
NM_004380.2(CREBBP):c.3914+3G>T rs587783485
NM_004380.2(CREBBP):c.4022G>C (p.Arg1341Pro) rs587783488
NM_004380.2(CREBBP):c.4134-1G>T rs886041048
NM_004380.2(CREBBP):c.4226T>C (p.Phe1409Ser) rs587783492
NM_004380.2(CREBBP):c.4281-11C>G rs587783493
NM_004380.2(CREBBP):c.4281G>T (p.Arg1427Ser) rs797045494
NM_004380.2(CREBBP):c.4336C>T (p.Arg1446Cys) rs398124146
NM_004380.2(CREBBP):c.4376A>G (p.Glu1459Gly) rs587783494
NM_004380.2(CREBBP):c.4436_4438delGAG (p.Gly1479del) rs1555473122
NM_004380.2(CREBBP):c.4445A>G (p.Tyr1482Cys) rs587783496
NM_004380.2(CREBBP):c.5039_5041del (p.Ser1680del) rs587783502
NM_004380.2(CREBBP):c.5050T>C (p.Ser1684Pro) rs587783503
NM_004380.2(CREBBP):c.5237G>T (p.Gly1746Val) rs869312714
NM_004380.2(CREBBP):c.5412C>A (p.His1804Gln) rs797045496
NM_004380.2(CREBBP):c.5614A>G (p.Met1872Val) rs797045037
NM_004380.2(CREBBP):c.6130_6171del (p.Ala2044_Gln2057del) rs587783511
NM_004380.2(CREBBP):c.6275C>G (p.Ser2092Ter) rs1555471077
NM_004380.2(CREBBP):c.6324C>A (p.Tyr2108Ter) rs199821421
NM_004380.2(CREBBP):c.7261_*247del316insC rs1555470631

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