ClinVar for MedGen (Select 1639327) - ClinVar - NCBI

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VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 25791851.	GRCh38/hg38 16p13.3(chr16:3818098-3858843)x1 GRCh38: Chr16:3818098-3858843	CREBBP		Rubinstein-Taybi syndrome due to CREBBP mutations	Pathogenic (Aug 24, 2023)	criteria provided, single submitter
Select item 25785132.	NM_004380.3(CREBBP):c.4208A>G (p.Asp1403Gly) GRCh37: Chr16:3789651 GRCh38: Chr16:3739650	CREBBP	D1365G, D1403G	Rubinstein-Taybi syndrome due to CREBBP mutations	Likely benign (Jan 19, 2023)	criteria provided, single submitter
Select item 25746703.	NM_004380.3(CREBBP):c.6587_6588dup (p.Leu2197fs)	CREBBP	L2159fs, L2197fs	Rubinstein-Taybi syndrome due to CREBBP mutations	Pathogenic	no assertion criteria provided
Select item 25730914.	NM_004380.3(CREBBP):c.1094A>C (p.His365Pro) GRCh37: Chr16:3843509 GRCh38: Chr16:3793508	CREBBP	H365P	Rubinstein-Taybi syndrome due to CREBBP mutations	Likely pathogenic (Jun 26, 2023)	criteria provided, single submitter
Select item 25723965.	NM_004380.3(CREBBP):c.2113+1G>C GRCh37: Chr16:3828011 GRCh38: Chr16:3778010	CREBBP		Rubinstein-Taybi syndrome due to CREBBP mutations	Likely pathogenic	criteria provided, single submitter
Select item 25069496.	NM_004380.3(CREBBP):c.4571A>G (p.Lys1524Arg) GRCh37: Chr16:3786194 GRCh38: Chr16:3736193	CREBBP	K1486R, K1524R	Rubinstein-Taybi syndrome due to CREBBP mutations	Uncertain significance (Oct 19, 2022)	no assertion criteria provided
Select item 25063887.	NM_004380.3(CREBBP):c.3659C>T (p.Thr1220Ile) GRCh37: Chr16:3807328 GRCh38: Chr16:3757327	CREBBP	T1182I, T1220I	Rubinstein-Taybi syndrome due to CREBBP mutations, Menke-Hennekam syndrome 1	Likely benign (Jun 21, 2023)	criteria provided, single submitter
Select item 24464248.	NM_004380.3(CREBBP):c.1068del (p.Gln356fs) GRCh37: Chr16:3843535 GRCh38: Chr16:3793534	CREBBP	Q356fs	Rubinstein-Taybi syndrome due to CREBBP mutations	Pathogenic (Apr 1, 2023)	criteria provided, single submitter
Select item 24452099.	Single allele GRCh37: Chr16:3767420-3860782	CREBBP, TRAP1		Rubinstein-Taybi syndrome due to CREBBP mutations	Likely pathogenic (Mar 9, 2021)	criteria provided, single submitter
Select item 244218310.	NM_004380.3(CREBBP):c.6169C>T (p.Gln2057Ter) GRCh37: Chr16:3778879 GRCh38: Chr16:3728878	CREBBP	Q2019, Q2057	Rubinstein-Taybi syndrome due to CREBBP mutations	Likely pathogenic (Apr 29, 2022)	criteria provided, single submitter
Select item 244214411.	NM_004380.3(CREBBP):c.2701C>T (p.Pro901Ser) GRCh37: Chr16:3820750 GRCh38: Chr16:3770749	CREBBP	P863S, P901S	Rubinstein-Taybi syndrome due to CREBBP mutations	Uncertain significance (Feb 16, 2022)	criteria provided, single submitter
Select item 244212812.	NM_004380.3(CREBBP):c.3699-11C>A GRCh37: Chr16:3801818 GRCh38: Chr16:3751817	CREBBP		Rubinstein-Taybi syndrome due to CREBBP mutations	Uncertain significance (Feb 2, 2022)	criteria provided, single submitter
Select item 243012913.	NM_004380.3(CREBBP):c.1867_1874del (p.Asp623fs) GRCh37: Chr16:3828768-3828775 GRCh38: Chr16:3778767-3778774	CREBBP	D585fs, D623fs	Rubinstein-Taybi syndrome due to CREBBP mutations	Pathogenic (Jan 23, 2023)	criteria provided, single submitter
Select item 242984614.	NM_001429.4(EP300):c.2893C>T (p.Gln965Ter) GRCh37: Chr22:41547912 GRCh38: Chr22:41151908	EP300, LOC126863158	Q939, Q965	Rubinstein-Taybi syndrome due to CREBBP mutations	Pathogenic (Aug 4, 2022)	criteria provided, single submitter
Select item 241274315.	NM_004380.3(CREBBP):c.4567_4568del (p.Phe1523fs) GRCh37: Chr16:3786197-3786198 GRCh38: Chr16:3736196-3736197	CREBBP	F1485fs, F1523fs	Rubinstein-Taybi syndrome due to CREBBP mutations	Pathogenic (Jan 25, 2023)	criteria provided, single submitter
Select item 199237916.	NM_004380.3(CREBBP):c.4666C>G (p.Leu1556Val) GRCh37: Chr16:3786099 GRCh38: Chr16:3736098	CREBBP	L1556V, L1518V	Rubinstein-Taybi syndrome due to CREBBP mutations	Uncertain significance (Mar 23, 2022)	criteria provided, single submitter
Select item 187864817.	NM_004380.3(CREBBP):c.189del (p.Ala64fs) GRCh37: Chr16:3900907 GRCh38: Chr16:3850906	CREBBP	A64fs	Rubinstein-Taybi syndrome due to CREBBP mutations	Likely pathogenic	criteria provided, single submitter
Select item 187862718.	NM_004380.3(CREBBP):c.3504_3527del (p.Asn1168_Tyr1175del) GRCh37: Chr16:3807892-3807915 GRCh38: Chr16:3757891-3757914	CREBBP		Rubinstein-Taybi syndrome due to CREBBP mutations	Likely pathogenic	criteria provided, single submitter
Select item 187854219.	NM_004380.3(CREBBP):c.875G>A (p.Gly292Glu) GRCh37: Chr16:3860704 GRCh38: Chr16:3810703	CREBBP	G292E	Rubinstein-Taybi syndrome due to CREBBP mutations	Uncertain significance	criteria provided, single submitter
Select item 180590720.	NM_004380.3(CREBBP):c.5683C>T (p.Gln1895Ter) GRCh37: Chr16:3779365 GRCh38: Chr16:3729364	CREBBP	Q1857, Q1895	Rubinstein-Taybi syndrome due to CREBBP mutations	Pathogenic (Sep 2, 2022)	criteria provided, single submitter
Select item 180559521.	NM_004380.3(CREBBP):c.3163G>T (p.Val1055Leu) GRCh37: Chr16:3817808 GRCh38: Chr16:3767807	CREBBP	V1017L, V1055L	Rubinstein-Taybi syndrome due to CREBBP mutations	Uncertain significance (Oct 19, 2020)	criteria provided, single submitter
Select item 180554322.	NM_004380.3(CREBBP):c.1090G>C (p.Ala364Pro) GRCh37: Chr16:3843513 GRCh38: Chr16:3793512	CREBBP	A364P	Rubinstein-Taybi syndrome due to CREBBP mutations	Likely benign (Jun 11, 2020)	criteria provided, single submitter
Select item 180545223.	NM_004380.3(CREBBP):c.6005_6006del (p.Val2002fs) GRCh37: Chr16:3779042-3779043 GRCh38: Chr16:3729041-3729042	CREBBP	V1964fs, V2002fs	Rubinstein-Taybi syndrome due to CREBBP mutations	Pathogenic (Mar 31, 2022)	criteria provided, single submitter
Select item 180522824.	NM_004380.3(CREBBP):c.4251C>G (p.Tyr1417Ter) GRCh37: Chr16:3789608 GRCh38: Chr16:3739607	CREBBP	Y1379, Y1417	Rubinstein-Taybi syndrome due to CREBBP mutations	Pathogenic (Feb 2, 2022)	criteria provided, single submitter
Select item 180517525.	NM_004380.3(CREBBP):c.3749C>A (p.Thr1250Asn) GRCh37: Chr16:3801757 GRCh38: Chr16:3751756	CREBBP	T1212N, T1250N	Rubinstein-Taybi syndrome due to CREBBP mutations	Uncertain significance (Feb 2, 2022)	criteria provided, single submitter
Select item 180313126.	NM_004380.3(CREBBP):c.1776G>C (p.Trp592Cys) GRCh37: Chr16:3830780 GRCh38: Chr16:3780779	CREBBP	W554C, W592C	Rubinstein-Taybi syndrome due to CREBBP mutations	Uncertain significance (Oct 18, 2020)	criteria provided, single submitter
Select item 171616527.	NM_004380.3(CREBBP):c.5242G>T (p.Gly1748Cys) GRCh37: Chr16:3779806 GRCh38: Chr16:3729805	CREBBP	G1710C, G1748C	Rubinstein-Taybi syndrome, Rubinstein-Taybi syndrome due to CREBBP mutations	Uncertain significance (Oct 19, 2022)	criteria provided, multiple submitters, no conflicts
Select item 170806828.	NM_004380.3(CREBBP):c.4067_4071del (p.Glu1356fs) GRCh37: Chr16:3790462-3790466 GRCh38: Chr16:3740461-3740465	CREBBP	E1318fs, E1356fs	Rubinstein-Taybi syndrome due to CREBBP mutations	Likely pathogenic (Sep 9, 2022)	criteria provided, single submitter
Select item 170528029.	NM_004380.3(CREBBP):c.851del (p.Gly284fs) GRCh37: Chr16:3860728 GRCh38: Chr16:3810727	CREBBP	G284fs	Rubinstein-Taybi syndrome due to CREBBP mutations	Pathogenic	criteria provided, single submitter
Select item 170433030.	NM_004380.3(CREBBP):c.4650_4654del (p.Glu1551fs) GRCh37: Chr16:3786111-3786115 GRCh38: Chr16:3736110-3736114	CREBBP	E1513fs, E1551fs	Rubinstein-Taybi syndrome due to CREBBP mutations	Pathogenic	criteria provided, single submitter
Select item 170166731.	NM_004380.3(CREBBP):c.6559C>T (p.Pro2187Ser) GRCh37: Chr16:3778489 GRCh38: Chr16:3728488	CREBBP	P2149S, P2187S	Rubinstein-Taybi syndrome due to CREBBP mutations	Uncertain significance (Sep 10, 2021)	criteria provided, single submitter
Select item 170164532.	NM_004380.3(CREBBP):c.1941+8G>A GRCh37: Chr16:3828693 GRCh38: Chr16:3778692	CREBBP		Rubinstein-Taybi syndrome due to CREBBP mutations	Uncertain significance (Sep 26, 2021)	criteria provided, single submitter
Select item 169948933.	NM_004380.3(CREBBP):c.6557A>T (p.Asn2186Ile) GRCh37: Chr16:3778491 GRCh38: Chr16:3728490	CREBBP	N2148I, N2186I	Rubinstein-Taybi syndrome due to CREBBP mutations	Uncertain significance (Jun 24, 2022)	criteria provided, single submitter
Select item 169897634.	NM_004380.3(CREBBP):c.5804C>T (p.Thr1935Ile) GRCh37: Chr16:3779244 GRCh38: Chr16:3729243	CREBBP	T1897I, T1935I	Rubinstein-Taybi syndrome due to CREBBP mutations	Uncertain significance (Jun 11, 2020)	criteria provided, single submitter
Select item 169654735.	NM_004380.3(CREBBP):c.4419C>T (p.Ala1473=) GRCh37: Chr16:3786792 GRCh38: Chr16:3736791	CREBBP		Rubinstein-Taybi syndrome due to CREBBP mutations, Rubinstein-Taybi syndrome	Conflicting interpretations of pathogenicity (Oct 18, 2022)	criteria provided, conflicting interpretations
Select item 169069936.	NM_004380.3(CREBBP):c.3974G>T (p.Ser1325Ile) GRCh37: Chr16:3794903 GRCh38: Chr16:3744902	CREBBP	S1287I, S1325I	Menke-Hennekam syndrome 1, Rubinstein-Taybi syndrome due to CREBBP mutations, See cases	Uncertain significance (Aug 17, 2021)	criteria provided, multiple submitters, no conflicts
Select item 168758137.	NM_004380.3(CREBBP):c.3907C>T (p.Pro1303Ser) GRCh37: Chr16:3795285 GRCh38: Chr16:3745284	CREBBP	P1265S, P1303S	Rubinstein-Taybi syndrome due to CREBBP mutations	Uncertain significance (May 22, 2022)	criteria provided, single submitter
Select item 168725038.	NM_004380.3(CREBBP):c.3983-1G>C GRCh37: Chr16:3790551 GRCh38: Chr16:3740550	CREBBP		Rubinstein-Taybi syndrome due to CREBBP mutations	Likely pathogenic (May 22, 2022)	criteria provided, single submitter
Select item 168659939.	NM_004380.3(CREBBP):c.3485A>G (p.Asn1162Ser) GRCh37: Chr16:3807934 GRCh38: Chr16:3757933	CREBBP	N1124S, N1162S	Menke-Hennekam syndrome 1, Rubinstein-Taybi syndrome due to CREBBP mutations, not specified	Uncertain significance (May 4, 2022)	criteria provided, multiple submitters, no conflicts
Select item 168567340.	NM_004380.3(CREBBP):c.5169C>G (p.Cys1723Trp) GRCh37: Chr16:3781196 GRCh38: Chr16:3731195	CREBBP	C1685W, C1723W	Rubinstein-Taybi syndrome due to CREBBP mutations	Pathogenic (May 4, 2022)	criteria provided, single submitter
Select item 168567241.	NM_004380.3(CREBBP):c.5555_5575del (p.Gln1852_Arg1858del) GRCh37: Chr16:3779473-3779493 GRCh38: Chr16:3729472-3729492	CREBBP		Rubinstein-Taybi syndrome due to CREBBP mutations	Pathogenic (May 4, 2022)	criteria provided, single submitter
Select item 168427642.	NM_004380.3(CREBBP):c.2436_2437insGCTG (p.Pro813fs) GRCh37: Chr16:3823778-3823779 GRCh38: Chr16:3773777-3773778	CREBBP	P775fs, P813fs	Rubinstein-Taybi syndrome due to CREBBP mutations	Pathogenic (Feb 1, 2022)	criteria provided, single submitter
Select item 168362043.	NM_004380.3(CREBBP):c.4804C>A (p.Arg1602Ser) GRCh37: Chr16:3781863 GRCh38: Chr16:3731862	CREBBP	R1564S, R1602S	Rubinstein-Taybi syndrome due to CREBBP mutations	Uncertain significance (Apr 8, 2021)	criteria provided, single submitter
Select item 167939944.	NM_004380.3(CREBBP):c.4305T>G (p.Asp1435Glu) GRCh37: Chr16:3788649 GRCh38: Chr16:3738648	CREBBP	D1397E, D1435E	Rubinstein-Taybi syndrome due to CREBBP mutations	Likely pathogenic (Aug 1, 2021)	criteria provided, single submitter
Select item 167939345.	NM_004380.3(CREBBP):c.5710C>T (p.Gln1904Ter) GRCh37: Chr16:3779338 GRCh38: Chr16:3729337	CREBBP	Q1866, Q1904	Rubinstein-Taybi syndrome due to CREBBP mutations	Pathogenic (Aug 1, 2021)	criteria provided, single submitter
Select item 167923946.	NM_004380.3(CREBBP):c.3832G>C (p.Glu1278Gln) GRCh37: Chr16:3799632 GRCh38: Chr16:3749631	CREBBP	E1240Q, E1278Q	Rubinstein-Taybi syndrome due to CREBBP mutations	Likely pathogenic (Aug 1, 2021)	criteria provided, single submitter
Select item 167724847.	NM_004380.3(CREBBP):c.1911del (p.Asp639fs) GRCh37: Chr16:3828731 GRCh38: Chr16:3778730	CREBBP	D601fs, D639fs	Rubinstein-Taybi syndrome due to CREBBP mutations	Pathogenic (Apr 20, 2022)	criteria provided, single submitter
Select item 167644448.	NM_004380.3(CREBBP):c.5961_5981delinsGCAT (p.Met1988fs)	CREBBP	M1950fs, M1988fs	Rubinstein-Taybi syndrome due to CREBBP mutations, Menke-Hennekam syndrome 1	Likely pathogenic (Feb 16, 2022)	criteria provided, single submitter
Select item 167519149.	NM_004380.3(CREBBP):c.3252C>T (p.Ile1084=) GRCh37: Chr16:3808972 GRCh38: Chr16:3758971	CREBBP		Rubinstein-Taybi syndrome, Inborn genetic diseases, Rubinstein-Taybi syndrome due to CREBBP mutations	Likely benign (Jun 2, 2022)	criteria provided, multiple submitters, no conflicts
Select item 165489650.	NM_004380.3(CREBBP):c.7116G>A (p.Ser2372=) GRCh37: Chr16:3777932 GRCh38: Chr16:3727931	CREBBP		Rubinstein-Taybi syndrome due to CREBBP mutations, Menke-Hennekam syndrome 1, Rubinstein-Taybi syndrome	Likely benign (Jun 25, 2022)	criteria provided, multiple submitters, no conflicts
Select item 165182151.	NM_004380.3(CREBBP):c.3204C>T (p.Asn1068=) GRCh37: Chr16:3817767 GRCh38: Chr16:3767766	CREBBP		Rubinstein-Taybi syndrome due to CREBBP mutations, Menke-Hennekam syndrome 1, Rubinstein-Taybi syndrome	Likely benign (Mar 2, 2022)	criteria provided, multiple submitters, no conflicts
Select item 162919452.	NM_004380.3(CREBBP):c.3370-17A>T GRCh37: Chr16:3808066 GRCh38: Chr16:3758065	CREBBP		Rubinstein-Taybi syndrome due to CREBBP mutations, Menke-Hennekam syndrome 1, Rubinstein-Taybi syndrome	Likely benign (Aug 12, 2022)	criteria provided, multiple submitters, no conflicts
Select item 152790953.	NM_004380.3(CREBBP):c.1930G>C (p.Ala644Pro) GRCh37: Chr16:3828712 GRCh38: Chr16:3778711	CREBBP	A606P, A644P	Rubinstein-Taybi syndrome due to CREBBP mutations	Likely pathogenic (Feb 27, 2022)	criteria provided, single submitter
Select item 135084754.	NM_001429.4(EP300):c.454G>A (p.Gly152Ser) GRCh37: Chr22:41513550 GRCh38: Chr22:41117546	EP300	G152S	Inborn genetic diseases, Rubinstein-Taybi syndrome due to EP300 haploinsufficiency, Rubinstein-Taybi syndrome due to CREBBP mutations, Menke-Hennekam syndrome 2, Colorectal cancer, Rubinstein-Taybi syndrome due to EP300 haploinsufficiency	Conflicting interpretations of pathogenicity (Oct 27, 2022)	criteria provided, conflicting interpretations
Select item 134289455.	NM_004380.3(CREBBP):c.4991G>T (p.Arg1664Leu) GRCh37: Chr16:3781374 GRCh38: Chr16:3731373	CREBBP	R1626L, R1664L	Rubinstein-Taybi syndrome due to CREBBP mutations	Likely pathogenic (Feb 1, 2022)	criteria provided, single submitter
Select item 134248356.	NM_004380.3(CREBBP):c.5794A>G (p.Thr1932Ala) GRCh37: Chr16:3779254 GRCh38: Chr16:3729253	CREBBP	T1894A, T1932A	Menke-Hennekam syndrome 1, Rubinstein-Taybi syndrome due to CREBBP mutations, Rubinstein-Taybi syndrome, Rubinstein-Taybi syndrome due to CREBBP mutations	Conflicting interpretations of pathogenicity (Jul 14, 2022)	criteria provided, conflicting interpretations
Select item 134232457.	NM_004380.3(CREBBP):c.5844_5846dup (p.Ala1949dup) GRCh37: Chr16:3779201-3779202 GRCh38: Chr16:3729200-3729201	CREBBP		Rubinstein-Taybi syndrome due to CREBBP mutations	Uncertain significance (Mar 12, 2021)	criteria provided, single submitter
Select item 134172258.	NM_004380.3(CREBBP):c.878T>A (p.Val293Glu) GRCh37: Chr16:3860701 GRCh38: Chr16:3810700	CREBBP	V293E	Rubinstein-Taybi syndrome due to CREBBP mutations	Uncertain significance (Jun 18, 2020)	criteria provided, single submitter
Select item 133905059.	NM_004380.3(CREBBP):c.3571C>A (p.Pro1191Thr) GRCh37: Chr16:3807848 GRCh38: Chr16:3757847	CREBBP	P1153T, P1191T	Rubinstein-Taybi syndrome due to CREBBP mutations	Uncertain significance	criteria provided, single submitter
Select item 133783960.	NM_004380.3(CREBBP):c.4709C>T (p.Ala1570Val) GRCh37: Chr16:3786056 GRCh38: Chr16:3736055	CREBBP	A1532V, A1570V	not specified, Rubinstein-Taybi syndrome due to CREBBP mutations, Menke-Hennekam syndrome 1	Uncertain significance (Jan 18, 2022)	criteria provided, multiple submitters, no conflicts
Select item 133470261.	NM_004380.3(CREBBP):c.3940A>T (p.Lys1314Ter) GRCh37: Chr16:3794937 GRCh38: Chr16:3744936	CREBBP	K1276, K1314	Rubinstein-Taybi syndrome due to CREBBP mutations	Likely pathogenic (Dec 9, 2021)	criteria provided, single submitter
Select item 133344162.	NM_004380.3(CREBBP):c.3418del (p.Arg1140fs) GRCh37: Chr16:3808001 GRCh38: Chr16:3758000	CREBBP	R1102fs, R1140fs	Rubinstein-Taybi syndrome due to CREBBP mutations	Likely pathogenic (Jan 3, 2022)	criteria provided, single submitter
Select item 133327163.	NM_004380.3(CREBBP):c.3370-2A>G GRCh37: Chr16:3808051 GRCh38: Chr16:3758050	CREBBP		Rubinstein-Taybi syndrome due to CREBBP mutations	Likely pathogenic (Jan 3, 2022)	criteria provided, single submitter
Select item 133326064.	NM_004380.3(CREBBP):c.4013T>G (p.Leu1338Trp) GRCh37: Chr16:3790520 GRCh38: Chr16:3740519	CREBBP	L1300W, L1338W	Rubinstein-Taybi syndrome due to CREBBP mutations	Uncertain significance (Jan 3, 2022)	criteria provided, single submitter
Select item 133124665.	NM_004380.3(CREBBP):c.2303G>A (p.Arg768Gln) GRCh37: Chr16:3823912 GRCh38: Chr16:3773911	CREBBP	R730Q, R768Q	not provided, Rubinstein-Taybi syndrome due to CREBBP mutations, Menke-Hennekam syndrome 1	Uncertain significance (Apr 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 133022366.	NM_004380.3(CREBBP):c.3249A>T (p.Lys1083Asn) GRCh37: Chr16:3817722 GRCh38: Chr16:3767721	CREBBP	K1045N, K1083N	Rubinstein-Taybi syndrome due to CREBBP mutations	Uncertain significance (Aug 5, 2021)	criteria provided, single submitter
Select item 132948867.	NM_004380.3(CREBBP):c.5462A>G (p.Gln1821Arg) GRCh37: Chr16:3779586 GRCh38: Chr16:3729585	CREBBP	Q1783R, Q1821R	Rubinstein-Taybi syndrome due to CREBBP mutations, Menke-Hennekam syndrome 1	Uncertain significance (Nov 16, 2021)	criteria provided, single submitter
Select item 132722868.	NM_004380.3(CREBBP):c.712G>A (p.Val238Met) GRCh37: Chr16:3900384 GRCh38: Chr16:3850383	CREBBP	V238M	not provided, Rubinstein-Taybi syndrome, Rubinstein-Taybi syndrome due to CREBBP mutations, Menke-Hennekam syndrome 1	Benign/Likely benign (Sep 27, 2022)	criteria provided, multiple submitters, no conflicts
Select item 130905769.	NM_004380.3(CREBBP):c.6594GCA[3] (p.Gln2215_Gln2216del) GRCh37: Chr16:3778440-3778445 GRCh38: Chr16:3728439-3728444	CREBBP		Menke-Hennekam syndrome 1, Rubinstein-Taybi syndrome due to CREBBP mutations, Rubinstein-Taybi syndrome, not provided	Uncertain significance (Nov 16, 2022)	criteria provided, multiple submitters, no conflicts
Select item 130863370.	NM_004380.3(CREBBP):c.6324C>G (p.Tyr2108Ter) GRCh37: Chr16:3778724 GRCh38: Chr16:3728723	CREBBP	Y2070, Y2108	Rubinstein-Taybi syndrome due to CREBBP mutations	Pathogenic (Oct 18, 2021)	criteria provided, single submitter
Select item 130298171.	NM_004380.3(CREBBP):c.2598G>T (p.Met866Ile) GRCh37: Chr16:3820853 GRCh38: Chr16:3770852	CREBBP	M828I, M866I	Inborn genetic diseases, Rubinstein-Taybi syndrome, Rubinstein-Taybi syndrome due to CREBBP mutations, Menke-Hennekam syndrome 1, not provided	Conflicting interpretations of pathogenicity (Jul 27, 2022)	criteria provided, conflicting interpretations
Select item 129966672.	NM_004380.3(CREBBP):c.1676+2_1676+5del GRCh37: Chr16:3831200-3831203 GRCh38: Chr16:3781199-3781202	CREBBP		Rubinstein-Taybi syndrome due to CREBBP mutations	Pathogenic (Oct 5, 2021)	no assertion criteria provided
Select item 127574473.	NM_004380.3(CREBBP):c.6007C>T (p.Pro2003Ser) GRCh37: Chr16:3779041 GRCh38: Chr16:3729040	CREBBP	P1965S, P2003S	Rubinstein-Taybi syndrome due to CREBBP mutations	Uncertain significance (Aug 19, 2021)	criteria provided, single submitter
Select item 125478574.	NM_004380.3(CREBBP):c.3233C>T (p.Ser1078Leu) GRCh37: Chr16:3817738 GRCh38: Chr16:3767737	CREBBP	S1040L, S1078L	Rubinstein-Taybi syndrome, not provided, Rubinstein-Taybi syndrome due to CREBBP mutations, Menke-Hennekam syndrome 1	Uncertain significance (Jul 20, 2022)	criteria provided, multiple submitters, no conflicts
Select item 125358375.	NM_004380.3(CREBBP):c.3641A>G (p.Tyr1214Cys) GRCh37: Chr16:3807346 GRCh38: Chr16:3757345	CREBBP	Y1176C, Y1214C	Menke-Hennekam syndrome 1, Rubinstein-Taybi syndrome due to CREBBP mutations, not provided	Uncertain significance (Feb 22, 2023)	criteria provided, multiple submitters, no conflicts
Select item 124764376.	NM_004380.3(CREBBP):c.1574-12C>T GRCh37: Chr16:3831319 GRCh38: Chr16:3781318	CREBBP		Rubinstein-Taybi syndrome, not provided, Rubinstein-Taybi syndrome due to CREBBP mutations, Menke-Hennekam syndrome 1	Benign (Oct 29, 2022)	criteria provided, multiple submitters, no conflicts
Select item 122383177.	NM_004380.3(CREBBP):c.4121G>C (p.Gly1374Ala) GRCh37: Chr16:3790412 GRCh38: Chr16:3740411	CREBBP	G1336A, G1374A	not provided, Rubinstein-Taybi syndrome due to CREBBP mutations, Menke-Hennekam syndrome 1	Uncertain significance (Oct 31, 2021)	criteria provided, multiple submitters, no conflicts
Select item 122112378.	NM_001429.4(EP300):c.2380-18T>C GRCh37: Chr22:41545747 GRCh38: Chr22:41149743	EP300		not provided, Rubinstein-Taybi syndrome due to EP300 haploinsufficiency, Rubinstein-Taybi syndrome due to CREBBP mutations, Menke-Hennekam syndrome 2, Colorectal cancer, Rubinstein-Taybi syndrome due to EP300 haploinsufficiency	Benign/Likely benign (Aug 6, 2022)	criteria provided, multiple submitters, no conflicts
Select item 121166279.	NM_004380.3(CREBBP):c.2846C>T (p.Pro949Leu) GRCh37: Chr16:3820605 GRCh38: Chr16:3770604	CREBBP	P911L, P949L	Rubinstein-Taybi syndrome due to CREBBP mutations, Menke-Hennekam syndrome 1, not provided, Rubinstein-Taybi syndrome	Benign/Likely benign (Oct 8, 2022)	criteria provided, multiple submitters, no conflicts
Select item 120941280.	NM_004380.3(CREBBP):c.5836C>G (p.Pro1946Ala) GRCh37: Chr16:3779212 GRCh38: Chr16:3729211	CREBBP	P1908A, P1946A	Rubinstein-Taybi syndrome, not provided, Rubinstein-Taybi syndrome due to CREBBP mutations, Menke-Hennekam syndrome 1, Inborn genetic diseases	Conflicting interpretations of pathogenicity (Aug 5, 2022)	criteria provided, conflicting interpretations
Select item 119943381.	NM_004380.3(CREBBP):c.2439G>A (p.Pro813=) GRCh37: Chr16:3823776 GRCh38: Chr16:3773775	CREBBP		Rubinstein-Taybi syndrome due to CREBBP mutations, Menke-Hennekam syndrome 1, Inborn genetic diseases, Rubinstein-Taybi syndrome, not provided	Likely benign (Oct 8, 2022)	criteria provided, multiple submitters, no conflicts
Select item 119920382.	NM_004380.3(CREBBP):c.6388C>T (p.Gln2130Ter) GRCh37: Chr16:3778660 GRCh38: Chr16:3728659	CREBBP	Q2092, Q2130	Rubinstein-Taybi syndrome due to CREBBP mutations	Likely pathogenic (Feb 24, 2021)	criteria provided, single submitter
Select item 117253683.	NM_004380.3(CREBBP):c.3699-1469_3836+1579del GRCh37: Chr16:3798049-3803276 GRCh38: Chr16:3748048-3753275	CREBBP		Rubinstein-Taybi syndrome due to CREBBP mutations	Pathogenic (Mar 17, 2021)	criteria provided, single submitter
Select item 113668784.	NM_004380.3(CREBBP):c.2464-7C>G GRCh37: Chr16:3820994 GRCh38: Chr16:3770993	CREBBP		Menke-Hennekam syndrome 1, Rubinstein-Taybi syndrome due to CREBBP mutations, Rubinstein-Taybi syndrome	Likely benign (May 4, 2022)	criteria provided, multiple submitters, no conflicts
Select item 109862785.	NM_004380.3(CREBBP):c.4141G>A (p.Asp1381Asn) GRCh37: Chr16:3789718 GRCh38: Chr16:3739717	CREBBP	D1343N, D1381N	Rubinstein-Taybi syndrome due to CREBBP mutations, Rubinstein-Taybi syndrome due to CREBBP mutations, Menke-Hennekam syndrome 1	Uncertain significance (Jul 22, 2021)	criteria provided, multiple submitters, no conflicts
Select item 109861486.	NM_004380.3(CREBBP):c.6839G>A (p.Gly2280Glu) GRCh37: Chr16:3778209 GRCh38: Chr16:3728208	CREBBP	G2242E, G2280E	Rubinstein-Taybi syndrome due to CREBBP mutations, Rubinstein-Taybi syndrome	Uncertain significance (Sep 18, 2022)	criteria provided, multiple submitters, no conflicts
Select item 109857687.	NM_004380.3(CREBBP):c.3893A>G (p.Tyr1298Cys) GRCh37: Chr16:3795299 GRCh38: Chr16:3745298	CREBBP	Y1260C, Y1298C	Rubinstein-Taybi syndrome due to CREBBP mutations	Uncertain significance (Jun 19, 2020)	criteria provided, single submitter
Select item 109828688.	NM_004380.3(CREBBP):c.3369+1del GRCh37: Chr16:3808854 GRCh38: Chr16:3758853	CREBBP		Rubinstein-Taybi syndrome due to CREBBP mutations	Pathogenic (Jan 3, 2022)	criteria provided, multiple submitters, no conflicts
Select item 106634189.	NM_004380.3(CREBBP):c.5060C>T (p.Ser1687Phe) GRCh37: Chr16:3781305 GRCh38: Chr16:3731304	CREBBP	S1649F, S1687F	Menke-Hennekam syndrome 1, Rubinstein-Taybi syndrome due to CREBBP mutations, Rubinstein-Taybi syndrome	Likely pathogenic (Aug 26, 2021)	criteria provided, multiple submitters, no conflicts
Select item 104947690.	NM_001429.4(EP300):c.695G>C (p.Gly232Ala) GRCh37: Chr22:41513791 GRCh38: Chr22:41117787	EP300	G232A	Rubinstein-Taybi syndrome due to EP300 haploinsufficiency, Rubinstein-Taybi syndrome due to CREBBP mutations, Rubinstein-Taybi syndrome due to EP300 haploinsufficiency, Menke-Hennekam syndrome 2, Colorectal cancer	Conflicting interpretations of pathogenicity (Aug 22, 2022)	criteria provided, conflicting interpretations
Select item 104938791.	NM_004380.3(CREBBP):c.1627C>G (p.Pro543Ala) GRCh37: Chr16:3831254 GRCh38: Chr16:3781253	CREBBP	P505A, P543A	Rubinstein-Taybi syndrome due to CREBBP mutations	Likely benign (May 6, 2021)	criteria provided, single submitter
Select item 104811592.	NM_004380.3(CREBBP):c.69G>A (p.Ser23=) GRCh37: Chr16:3929849 GRCh38: Chr16:3879848	CREBBP		Menke-Hennekam syndrome 1, Rubinstein-Taybi syndrome due to CREBBP mutations, Tip-toe gait	Uncertain significance (Sep 22, 2021)	criteria provided, multiple submitters, no conflicts
Select item 103408293.	NM_004380.3(CREBBP):c.239C>G (p.Ser80Cys) GRCh37: Chr16:3900857 GRCh38: Chr16:3850856	CREBBP	S80C	Rubinstein-Taybi syndrome due to CREBBP mutations	Uncertain significance (Feb 21, 2018)	criteria provided, single submitter
Select item 103078894.	NM_004380.3(CREBBP):c.7184T>C (p.Ile2395Thr) GRCh37: Chr16:3777864 GRCh38: Chr16:3727863	CREBBP	I2395T, I2357T	Menke-Hennekam syndrome 1, Rubinstein-Taybi syndrome due to CREBBP mutations, Rubinstein-Taybi syndrome due to CREBBP mutations	Uncertain significance (Sep 11, 2021)	criteria provided, multiple submitters, no conflicts
Select item 102983995.	NM_004380.3(CREBBP):c.5842C>A (p.Pro1948Thr) GRCh37: Chr16:3779206 GRCh38: Chr16:3729205	CREBBP	P1910T, P1948T	Rubinstein-Taybi syndrome due to CREBBP mutations	Uncertain significance (Jun 4, 2020)	criteria provided, single submitter
Select item 102983896.	NM_004380.3(CREBBP):c.47_48delinsT (p.Lys16fs) GRCh37: Chr16:3929870-3929871 GRCh38: Chr16:3879869-3879870	CREBBP	K16fs	Rubinstein-Taybi syndrome due to CREBBP mutations	Pathogenic (Jan 22, 2019)	criteria provided, single submitter
Select item 102983797.	NM_004380.3(CREBBP):c.3836C>G (p.Pro1279Arg) GRCh37: Chr16:3799628 GRCh38: Chr16:3749627	CREBBP	P1241R, P1279R	Rubinstein-Taybi syndrome due to CREBBP mutations	Uncertain significance (Mar 19, 2020)	criteria provided, single submitter
Select item 102983698.	NM_004380.3(CREBBP):c.3227C>T (p.Ser1076Phe) GRCh37: Chr16:3817744 GRCh38: Chr16:3767743	CREBBP	S1038F, S1076F	Rubinstein-Taybi syndrome due to CREBBP mutations	Uncertain significance (Jul 10, 2019)	criteria provided, single submitter
Select item 101107599.	NC_000016.9:g.(?_3929813)_(4387545_?)dup GRCh37: Chr16:3929813-4387545	TFAP4, CREBBP, GLIS2, ADCY9, SRL		Rubinstein-Taybi syndrome, Rubinstein-Taybi syndrome due to CREBBP mutations	Uncertain significance (Jul 3, 2018)	criteria provided, single submitter
Select item 998205100.	NM_004380.3(CREBBP):c.2854G>A (p.Val952Met) GRCh37: Chr16:3820597 GRCh38: Chr16:3770596	CREBBP	V914M, V952M	Rubinstein-Taybi syndrome due to CREBBP mutations, Menke-Hennekam syndrome 1, Rubinstein-Taybi syndrome, Rubinstein-Taybi syndrome due to CREBBP mutations	Conflicting interpretations of pathogenicity (Jul 12, 2022)	criteria provided, conflicting interpretations

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