List of variants in gene CREBBP reported as likely pathogenic for bone development disease

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 113

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HGVS	dbSNP	gnomAD frequency
NC_000016.10:g.(?_3744874)_(3758992_?)del
NC_000016.9:g.(?_3786017)_(3786836_?)dup
NC_000016.9:g.(?_3786631)_(3790570_?)dup
NC_000016.9:g.(?_3829526)_(3830870_?)del
NM_004380.3(CREBBP):c.1094A>C (p.His365Pro)
NM_004380.3(CREBBP):c.1301A>T (p.Lys434Ile)
NM_004380.3(CREBBP):c.1511_1517del (p.Val504fs)
NM_004380.3(CREBBP):c.1574-2A>G	rs2141248421
NM_004380.3(CREBBP):c.1801C>T (p.Arg601Trp)	rs1354934373
NM_004380.3(CREBBP):c.1823T>C (p.Leu608Pro)	rs2053254528
NM_004380.3(CREBBP):c.1824-1G>C
NM_004380.3(CREBBP):c.189del (p.Ala64fs)
NM_004380.3(CREBBP):c.1930G>C (p.Ala644Pro)	rs2141237064
NM_004380.3(CREBBP):c.2031del (p.Ile678fs)	rs1555483716
NM_004380.3(CREBBP):c.2111del (p.Pro704fs)
NM_004380.3(CREBBP):c.2113+1G>C
NM_004380.3(CREBBP):c.2283+1G>T
NM_004380.3(CREBBP):c.2464-1G>A	rs2052993075
NM_004380.3(CREBBP):c.2689C>T (p.Gln897Ter)
NM_004380.3(CREBBP):c.3248_3250+4del
NM_004380.3(CREBBP):c.3270dup (p.Arg1091fs)
NM_004380.3(CREBBP):c.3370-2A>G	rs866703165
NM_004380.3(CREBBP):c.3374_3377dup (p.Phe1126fs)
NM_004380.3(CREBBP):c.3418del (p.Arg1140fs)	rs2151383848
NM_004380.3(CREBBP):c.3490G>C (p.Ala1164Pro)	rs797045492
NM_004380.3(CREBBP):c.3495_3575del (p.Trp1165_Val1192delinsCys)	rs1596853925
NM_004380.3(CREBBP):c.3500A>G (p.Tyr1167Cys)	rs587783481
NM_004380.3(CREBBP):c.3504_3527del (p.Asn1168_Tyr1175del)
NM_004380.3(CREBBP):c.3512C>G (p.Thr1171Arg)
NM_004380.3(CREBBP):c.3524A>G (p.Tyr1175Cys)	rs28937315
NM_004380.3(CREBBP):c.3535A>G (p.Ser1179Gly)	rs1596854023
NM_004380.3(CREBBP):c.3623dup (p.Gln1209fs)	rs2052611239
NM_004380.3(CREBBP):c.3698G>A (p.Arg1233Lys)	rs1057518844
NM_004380.3(CREBBP):c.3719G>A (p.Cys1240Tyr)	rs1596839714
NM_004380.3(CREBBP):c.3779+1G>C	rs587783483
NM_004380.3(CREBBP):c.3832G>A (p.Glu1278Lys)	rs267606752
NM_004380.3(CREBBP):c.3832G>C (p.Glu1278Gln)	rs267606752
NM_004380.3(CREBBP):c.3836+5G>A
NM_004380.3(CREBBP):c.3914+3G>T	rs587783485
NM_004380.3(CREBBP):c.3940A>T (p.Lys1314Ter)	rs2151354104
NM_004380.3(CREBBP):c.3982+3A>T	rs1596823180
NM_004380.3(CREBBP):c.3983-1G>C	rs2151341377
NM_004380.3(CREBBP):c.4022G>C (p.Arg1341Pro)	rs587783488
NM_004380.3(CREBBP):c.4040G>C (p.Arg1347Pro)	rs1596813665
NM_004380.3(CREBBP):c.4067_4071del (p.Glu1356fs)
NM_004380.3(CREBBP):c.4133G>C (p.Arg1378Pro)	rs121434626
NM_004380.3(CREBBP):c.4134-1G>T	rs886041048
NM_004380.3(CREBBP):c.4145C>T (p.Ser1382Phe)	rs149877180
NM_004380.3(CREBBP):c.4175G>T (p.Arg1392Leu)	rs1596812290
NM_004380.3(CREBBP):c.4216G>T (p.Asp1406Tyr)	rs2052153254
NM_004380.3(CREBBP):c.4226T>C (p.Phe1409Ser)	rs587783492
NM_004380.3(CREBBP):c.4262G>T (p.Cys1421Phe)	rs200616542
NM_004380.3(CREBBP):c.4277C>G (p.Thr1426Arg)	rs145988918
NM_004380.3(CREBBP):c.4281-11C>G	rs587783493
NM_004380.3(CREBBP):c.4281-2A>T
NM_004380.3(CREBBP):c.4281G>T (p.Arg1427Ser)	rs797045494
NM_004380.3(CREBBP):c.4283G>C (p.Arg1428Pro)	rs778448390
NM_004380.3(CREBBP):c.4297T>C (p.Tyr1433His)	rs1596810435
NM_004380.3(CREBBP):c.4303G>T (p.Asp1435Tyr)	rs1596810419
NM_004380.3(CREBBP):c.4305T>G (p.Asp1435Glu)	rs928061320
NM_004380.3(CREBBP):c.4336C>T (p.Arg1446Cys)	rs398124146
NM_004380.3(CREBBP):c.4337G>A (p.Arg1446His)	rs1057519884
NM_004380.3(CREBBP):c.4376A>G (p.Glu1459Gly)	rs587783494
NM_004380.3(CREBBP):c.4395-2A>C	rs2151330226
NM_004380.3(CREBBP):c.4417G>A (p.Ala1473Thr)	rs1596805927
NM_004380.3(CREBBP):c.4436_4438del (p.Gly1479del)	rs1555473122
NM_004380.3(CREBBP):c.4439A>G (p.Asp1480Gly)	rs886041286
NM_004380.3(CREBBP):c.4445A>G (p.Tyr1482Cys)	rs587783496
NM_004380.3(CREBBP):c.4459C>T (p.His1487Tyr)	rs1057519207
NM_004380.3(CREBBP):c.4460A>G (p.His1487Arg)	rs1596805792
NM_004380.3(CREBBP):c.4471C>A (p.Gln1491Lys)
NM_004380.3(CREBBP):c.4508A>T (p.Tyr1503Phe)
NM_004380.3(CREBBP):c.4613C>T (p.Pro1538Leu)	rs1596804126
NM_004380.3(CREBBP):c.4615T>A (p.Tyr1539Asn)
NM_004380.3(CREBBP):c.4719_4728+614del
NM_004380.3(CREBBP):c.4812del (p.Asn1604fs)
NM_004380.3(CREBBP):c.4894TTC[1] (p.Phe1633del)	rs1555471931
NM_004380.3(CREBBP):c.4991G>A (p.Arg1664His)	rs1596791996
NM_004380.3(CREBBP):c.4991G>T (p.Arg1664Leu)	rs1596791996
NM_004380.3(CREBBP):c.5036CCT[1] (p.Ser1680del)	rs587783502
NM_004380.3(CREBBP):c.5050T>C (p.Ser1684Pro)	rs587783503
NM_004380.3(CREBBP):c.5059T>C (p.Ser1687Pro)	rs61731407
NM_004380.3(CREBBP):c.5060C>T (p.Ser1687Phe)	rs2151316542
NM_004380.3(CREBBP):c.5158T>C (p.Cys1720Arg)	rs2051906390
NM_004380.3(CREBBP):c.5186G>C (p.Cys1729Ser)	rs2051863859
NM_004380.3(CREBBP):c.5197T>G (p.Tyr1733Asp)
NM_004380.3(CREBBP):c.5237G>T (p.Gly1746Val)	rs869312714
NM_004380.3(CREBBP):c.5336T>C (p.Leu1779Pro)	rs1064796457
NM_004380.3(CREBBP):c.5345C>T (p.Ala1782Val)	rs2051858361
NM_004380.3(CREBBP):c.5357G>A (p.Arg1786His)	rs988251457
NM_004380.3(CREBBP):c.5412C>A (p.His1804Gln)	rs797045496
NM_004380.3(CREBBP):c.5482_5484del (p.Tyr1828del)	rs1596787459
NM_004380.3(CREBBP):c.5600G>A (p.Arg1867Gln)	rs1131691326
NM_004380.3(CREBBP):c.5614A>G (p.Met1872Val)	rs797045037
NM_004380.3(CREBBP):c.5615T>C (p.Met1872Thr)	rs879255381
NM_004380.3(CREBBP):c.5694_5703del (p.Ser1898fs)	rs1555471323
NM_004380.3(CREBBP):c.5821C>T (p.Gln1941Ter)	rs587783505
NM_004380.3(CREBBP):c.5830dup (p.Ala1944fs)	rs1567262786
NM_004380.3(CREBBP):c.5836_5837del (p.Pro1946fs)
NM_004380.3(CREBBP):c.5837dup (p.Pro1947fs)	rs587783507
NM_004380.3(CREBBP):c.5961_5981delinsGCAT (p.Met1988fs)	rs2151306905
NM_004380.3(CREBBP):c.6046_6049del (p.Met2016fs)
NM_004380.3(CREBBP):c.6111del (p.Arg2037fs)
NM_004380.3(CREBBP):c.6130_6171del (p.Ala2044_Gln2057del)	rs587783511
NM_004380.3(CREBBP):c.6169C>T (p.Gln2057Ter)
NM_004380.3(CREBBP):c.6241C>T (p.Gln2081Ter)	rs886041518
NM_004380.3(CREBBP):c.6250C>T (p.Gln2084Ter)	rs2051825168
NM_004380.3(CREBBP):c.6275C>G (p.Ser2092Ter)	rs1555471077
NM_004380.3(CREBBP):c.6324C>A (p.Tyr2108Ter)	rs199821421
NM_004380.3(CREBBP):c.6388C>T (p.Gln2130Ter)	rs2151304304
NM_004380.3(CREBBP):c.7261_*247delinsC (p.Ser2421_Ter2443delinsXaa)	rs1555470631
NM_004380.3(CREBBP):c.85+1G>A	rs1597099388
NM_004380.3(CREBBP):c.859_860inv (p.Pro287Gly)

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