Disease associated variation - ClinVar Allele ID Type Name RS#dbSNP Phenotype IDs Chromosome Start Stop Reference Alternate 24467 single nucleotide variant NM_004380.2(CREBBP):c.406C>T (p.Gln136Ter) 121434624 MedGen:C0035934,OMIM:180849,Orphanet:ORPHA353277,SNOMED CT:C0035934 16 3900690 3900690 G A 24467 single nucleotide variant NM_004380.2(CREBBP):c.406C>T (p.Gln136Ter) 121434624 MedGen:C0035934,OMIM:180849,Orphanet:ORPHA353277,SNOMED CT:C0035934 16 3850689 3850689 G A 24468 single nucleotide variant NM_004380.2(CREBBP):c.1069C>T (p.Gln357Ter) 121434625 MedGen:C0035934,OMIM:180849,Orphanet:ORPHA353277,SNOMED CT:C0035934 16 3843534 3843534 G A 24468 single nucleotide variant NM_004380.2(CREBBP):c.1069C>T (p.Gln357Ter) 121434625 MedGen:C0035934,OMIM:180849,Orphanet:ORPHA353277,SNOMED CT:C0035934 16 3793533 3793533 G A 24469 single nucleotide variant NM_004380.2(CREBBP):c.4133G>C (p.Arg1378Pro) 121434626 MedGen:C0035934,OMIM:180849,Orphanet:ORPHA353277,SNOMED CT:C0035934 16 3790400 3790400 C G 24469 single nucleotide variant NM_004380.2(CREBBP):c.4133G>C (p.Arg1378Pro) 121434626 MedGen:C0035934,OMIM:180849,Orphanet:ORPHA353277,SNOMED CT:C0035934 16 3740399 3740399 C G 24470 deletion CREBBP, 2-BP DEL, NT5222 -1 MedGen:C0035934,OMIM:180849,Orphanet:ORPHA353277,SNOMED CT:C0035934 na -1 -1 na na 24471 single nucleotide variant NM_004380.2(CREBBP):c.3524A>G (p.Tyr1175Cys) 28937315 MedGen:C0035934,OMIM:180849,Orphanet:ORPHA353277,SNOMED CT:C0035934 16 3807895 3807895 T C 24471 single nucleotide variant NM_004380.2(CREBBP):c.3524A>G (p.Tyr1175Cys) 28937315 MedGen:C0035934,OMIM:180849,Orphanet:ORPHA353277,SNOMED CT:C0035934 16 3757894 3757894 T C 24472 single nucleotide variant NM_004380.2(CREBBP):c.3832G>A (p.Glu1278Lys) 267606752 MedGen:C0035934,OMIM:180849,Orphanet:ORPHA353277,SNOMED CT:C0035934;MedGen:CN221809 16 3799632 3799632 C T 24472 single nucleotide variant NM_004380.2(CREBBP):c.3832G>A (p.Glu1278Lys) 267606752 MedGen:C0035934,OMIM:180849,Orphanet:ORPHA353277,SNOMED CT:C0035934;MedGen:CN221809 16 3749631 3749631 C T 24473 single nucleotide variant CREBBP, IVS21, A-T, -2 -1 MedGen:C0035934,OMIM:180849,Orphanet:ORPHA353277,SNOMED CT:C0035934 na -1 -1 na na 38997 single nucleotide variant NM_004380.2(CREBBP):c.2728A>G (p.Thr910Ala) 143247685 MedGen:C0035934,OMIM:180849,Orphanet:ORPHA353277,SNOMED CT:C0035934;MedGen:CN169374 16 3820723 3820723 T C 38997 single nucleotide variant NM_004380.2(CREBBP):c.2728A>G (p.Thr910Ala) 143247685 MedGen:C0035934,OMIM:180849,Orphanet:ORPHA353277,SNOMED CT:C0035934;MedGen:CN169374 16 3770722 3770722 T C 71512 single nucleotide variant NM_004380.2(CREBBP):c.497C>A (p.Pro166His) 374119348 MedGen:CN169374 16 3900599 3900599 G T 71512 single nucleotide variant NM_004380.2(CREBBP):c.497C>A (p.Pro166His) 374119348 MedGen:CN169374 16 3850598 3850598 G T 73218 copy number gain GRCh38/hg38 16p13.3(chr16:3750305-3769722)x3 -1 - 16 3800306 3819723 na na 73218 copy number gain GRCh38/hg38 16p13.3(chr16:3750305-3769722)x3 -1 - 16 3750305 3769722 na na 73218 copy number gain GRCh38/hg38 16p13.3(chr16:3750305-3769722)x3 -1 - 16 3740307 3759724 na na 74026 copy number loss GRCh38/hg38 16p13.3(chr16:3861794-3904192)x1 -1 - 16 3911795 3954193 na na 74026 copy number loss GRCh38/hg38 16p13.3(chr16:3861794-3904192)x1 -1 - 16 3861794 3904192 na na 74026 copy number loss GRCh38/hg38 16p13.3(chr16:3861794-3904192)x1 -1 - 16 3851796 3894194 na na 100923 single nucleotide variant NM_004380.2(CREBBP):c.1149G>A (p.Pro383=) 61759495 MedGen:C0035934,OMIM:180849,Orphanet:ORPHA353277,SNOMED CT:C0035934;MedGen:CN169374 16 3843454 3843454 C T 100923 single nucleotide variant NM_004380.2(CREBBP):c.1149G>A (p.Pro383=) 61759495 MedGen:C0035934,OMIM:180849,Orphanet:ORPHA353277,SNOMED CT:C0035934;MedGen:CN169374 16 3793453 3793453 C T 100924 single nucleotide variant NM_004380.2(CREBBP):c.1369A>G (p.Ile457Val) 369459749 MedGen:CN169374 16 3832889 3832889 T C 100924 single nucleotide variant NM_004380.2(CREBBP):c.1369A>G (p.Ile457Val) 369459749 MedGen:CN169374 16 3782888 3782888 T C 100925 single nucleotide variant NM_004380.2(CREBBP):c.1618C>A (p.Gln540Lys) 398124138 MedGen:CN169374 16 3831263 3831263 G T 100925 single nucleotide variant NM_004380.2(CREBBP):c.1618C>A (p.Gln540Lys) 398124138 MedGen:CN169374 16 3781262 3781262 G T 100926 single nucleotide variant NM_004380.2(CREBBP):c.1651C>A (p.Leu551Ile) 61753381 MedGen:CN169374 16 3831230 3831230 G T 100926 single nucleotide variant NM_004380.2(CREBBP):c.1651C>A (p.Leu551Ile) 61753381 MedGen:CN169374 16 3781229 3781229 G T 100927 deletion NM_004380.2(CREBBP):c.1669delG (p.Ala557Profs) 398124139 MedGen:CN221809 16 3831212 3831212 C - 100927 deletion NM_004380.2(CREBBP):c.1669delG (p.Ala557Profs) 398124139 MedGen:CN221809 16 3781211 3781211 C - 100928 single nucleotide variant NM_004380.2(CREBBP):c.1676+18A>T 130018 MedGen:CN169374 16 3831187 3831187 T A 100928 single nucleotide variant NM_004380.2(CREBBP):c.1676+18A>T 130018 MedGen:CN169374 16 3781186 3781186 T A 100929 deletion NM_004380.2(CREBBP):c.1932_1934delCAA (p.Asn645del) 398124140 MedGen:CN169374 16 3828708 3828710 TTG - 100929 deletion NM_004380.2(CREBBP):c.1932_1934delCAA (p.Asn645del) 398124140 MedGen:CN169374 16 3778707 3778709 TTG - 100930 single nucleotide variant NM_004380.2(CREBBP):c.2034C>T (p.Ile678=) 398124141 MedGen:CN169374 16 3828091 3828091 G A 100930 single nucleotide variant NM_004380.2(CREBBP):c.2034C>T (p.Ile678=) 398124141 MedGen:CN169374 16 3778090 3778090 G A 100931 single nucleotide variant NM_004380.2(CREBBP):c.2112A>G (p.Pro704=) 398124142 MedGen:CN169374 16 3828013 3828013 T C 100931 single nucleotide variant NM_004380.2(CREBBP):c.2112A>G (p.Pro704=) 398124142 MedGen:CN169374 16 3778012 3778012 T C 100932 single nucleotide variant NM_004380.2(CREBBP):c.2312A>G (p.Gln771Arg) 147805823 MedGen:CN169374 16 3823903 3823903 T C 100932 single nucleotide variant NM_004380.2(CREBBP):c.2312A>G (p.Gln771Arg) 147805823 MedGen:CN169374 16 3773902 3773902 T C 100933 single nucleotide variant NM_004380.2(CREBBP):c.2415G>A (p.Ala805=) 368664039 MedGen:CN169374 16 3823800 3823800 C T 100933 single nucleotide variant NM_004380.2(CREBBP):c.2415G>A (p.Ala805=) 368664039 MedGen:CN169374 16 3773799 3773799 C T 100934 single nucleotide variant NM_004380.2(CREBBP):c.2572C>T (p.Pro858Ser) 145733598 MedGen:CN169374 16 3820879 3820879 G A 100934 single nucleotide variant NM_004380.2(CREBBP):c.2572C>T (p.Pro858Ser) 145733598 MedGen:CN169374 16 3770878 3770878 G A 100935 single nucleotide variant NM_004380.2(CREBBP):c.2678C>T (p.Ser893Leu) 142047649 MedGen:CN169374 16 3820773 3820773 G A 100935 single nucleotide variant NM_004380.2(CREBBP):c.2678C>T (p.Ser893Leu) 142047649 MedGen:CN169374 16 3770772 3770772 G A 100936 single nucleotide variant NM_004380.2(CREBBP):c.2811G>A (p.Pro937=) 146168040 MedGen:C0035934,OMIM:180849,Orphanet:ORPHA353277,SNOMED CT:C0035934;MedGen:CN169374 16 3820640 3820640 C T 100936 single nucleotide variant NM_004380.2(CREBBP):c.2811G>A (p.Pro937=) 146168040 MedGen:C0035934,OMIM:180849,Orphanet:ORPHA353277,SNOMED CT:C0035934;MedGen:CN169374 16 3770639 3770639 C T 100937 single nucleotide variant NM_004380.2(CREBBP):c.2941G>A (p.Ala981Thr) 61753380 MedGen:CN169374 16 3819294 3819294 C T 100937 single nucleotide variant NM_004380.2(CREBBP):c.2941G>A (p.Ala981Thr) 61753380 MedGen:CN169374 16 3769293 3769293 C T 100938 single nucleotide variant NM_004380.2(CREBBP):c.2950A>T (p.Asn984Tyr) 140406003 MedGen:CN169374 16 3819285 3819285 T A 100938 single nucleotide variant NM_004380.2(CREBBP):c.2950A>T (p.Asn984Tyr) 140406003 MedGen:CN169374 16 3769284 3769284 T A 100939 single nucleotide variant NM_004380.2(CREBBP):c.2973C>T (p.Asp991=) 142528559 MedGen:CN169374 16 3819262 3819262 G A 100939 single nucleotide variant NM_004380.2(CREBBP):c.2973C>T (p.Asp991=) 142528559 MedGen:CN169374 16 3769261 3769261 G A 100940 single nucleotide variant NM_004380.2(CREBBP):c.2974G>A (p.Val992Ile) 61731383 MedGen:CN169374 16 3819261 3819261 C T 100940 single nucleotide variant NM_004380.2(CREBBP):c.2974G>A (p.Val992Ile) 61731383 MedGen:CN169374 16 3769260 3769260 C T 100941 single nucleotide variant NM_004380.2(CREBBP):c.3060+10G>A 398124143 MedGen:CN169374 16 3819165 3819165 C T 100941 single nucleotide variant NM_004380.2(CREBBP):c.3060+10G>A 398124143 MedGen:CN169374 16 3769164 3769164 C T 100942 single nucleotide variant NM_004380.2(CREBBP):c.3128C>T (p.Ser1043Leu) 61731376 MedGen:CN169374 16 3817843 3817843 G A 100942 single nucleotide variant NM_004380.2(CREBBP):c.3128C>T (p.Ser1043Leu) 61731376 MedGen:CN169374 16 3767842 3767842 G A 100943 single nucleotide variant NM_004380.2(CREBBP):c.3337C>T (p.Gln1113Ter) 398124144 MedGen:CN221809 16 3808887 3808887 G A 100943 single nucleotide variant NM_004380.2(CREBBP):c.3337C>T (p.Gln1113Ter) 398124144 MedGen:CN221809 16 3758886 3758886 G A 100944 single nucleotide variant NM_004380.2(CREBBP):c.333C>T (p.Asn111=) 150229705 MedGen:CN169374 16 3900763 3900763 G A 100944 single nucleotide variant NM_004380.2(CREBBP):c.333C>T (p.Asn111=) 150229705 MedGen:CN169374 16 3850762 3850762 G A 100945 single nucleotide variant NM_004380.2(CREBBP):c.3837-8C>T 3025684 MedGen:CN169374 16 3795363 3795363 G A 100945 single nucleotide variant NM_004380.2(CREBBP):c.3837-8C>T 3025684 MedGen:CN169374 16 3745362 3745362 G A 100946 single nucleotide variant NM_004380.2(CREBBP):c.3982+1G>A 398124145 MedGen:CN221809 16 3794894 3794894 C T 100946 single nucleotide variant NM_004380.2(CREBBP):c.3982+1G>A 398124145 MedGen:CN221809 16 3744893 3744893 C T 100947 single nucleotide variant NM_004380.2(CREBBP):c.4336C>T (p.Arg1446Cys) 398124146 MedGen:CN169374 16 3788618 3788618 G A 100947 single nucleotide variant NM_004380.2(CREBBP):c.4336C>T (p.Arg1446Cys) 398124146 MedGen:CN169374 16 3738617 3738617 G A 100948 single nucleotide variant NM_004380.2(CREBBP):c.4481C>G (p.Pro1494Arg) 398124147 MedGen:CN221809 16 3786730 3786730 G C 100948 single nucleotide variant NM_004380.2(CREBBP):c.4481C>G (p.Pro1494Arg) 398124147 MedGen:CN221809 16 3736729 3736729 G C 100949 single nucleotide variant NM_004380.2(CREBBP):c.459G>A (p.Pro153=) 56388626 MedGen:CN169374 16 3900637 3900637 C T 100949 single nucleotide variant NM_004380.2(CREBBP):c.459G>A (p.Pro153=) 56388626 MedGen:CN169374 16 3850636 3850636 C T 100950 single nucleotide variant NM_004380.2(CREBBP):c.4822C>A (p.Pro1608Thr) 73491901 MedGen:CN169374 16 3781845 3781845 G T 100950 single nucleotide variant NM_004380.2(CREBBP):c.4822C>A (p.Pro1608Thr) 73491901 MedGen:CN169374 16 3731844 3731844 G T 100951 single nucleotide variant NM_004380.2(CREBBP):c.504G>A (p.Thr168=) 373310969 MedGen:CN169374 16 3900592 3900592 C T 100951 single nucleotide variant NM_004380.2(CREBBP):c.504G>A (p.Thr168=) 373310969 MedGen:CN169374 16 3850591 3850591 C T 100952 single nucleotide variant NM_004380.2(CREBBP):c.5052C>T (p.Ser1684=) 2072381 MedGen:CN169374 16 3781313 3781313 G A 100952 single nucleotide variant NM_004380.2(CREBBP):c.5052C>T (p.Ser1684=) 2072381 MedGen:CN169374 16 3731312 3731312 G A 100953 single nucleotide variant NM_004380.2(CREBBP):c.5361C>T (p.Asn1787=) 375462934 MedGen:CN169374 16 3779687 3779687 G A 100953 single nucleotide variant NM_004380.2(CREBBP):c.5361C>T (p.Asn1787=) 375462934 MedGen:CN169374 16 3729686 3729686 G A 100954 single nucleotide variant NM_004380.2(CREBBP):c.5436C>G (p.Thr1812=) 61731405 MedGen:CN169374 16 3779612 3779612 G C 100954 single nucleotide variant NM_004380.2(CREBBP):c.5436C>G (p.Thr1812=) 61731405 MedGen:CN169374 16 3729611 3729611 G C 100955 single nucleotide variant NM_004380.2(CREBBP):c.5599C>G (p.Arg1867Gly) 398124148 MedGen:CN169374 16 3779449 3779449 G C 100955 single nucleotide variant NM_004380.2(CREBBP):c.5599C>G (p.Arg1867Gly) 398124148 MedGen:CN169374 16 3729448 3729448 G C 100956 single nucleotide variant NM_004380.2(CREBBP):c.5719G>A (p.Ala1907Thr) 199990883 MedGen:C0035934,OMIM:180849,Orphanet:ORPHA353277,SNOMED CT:C0035934;MedGen:CN221809;MedGen:CN169374 16 3779329 3779329 C T 100956 single nucleotide variant NM_004380.2(CREBBP):c.5719G>A (p.Ala1907Thr) 199990883 MedGen:C0035934,OMIM:180849,Orphanet:ORPHA353277,SNOMED CT:C0035934;MedGen:CN221809;MedGen:CN169374 16 3729328 3729328 C T 100957 single nucleotide variant NM_004380.2(CREBBP):c.5933A>G (p.Asn1978Ser) 112906840 MedGen:CN169374 16 3779115 3779115 T C 100957 single nucleotide variant NM_004380.2(CREBBP):c.5933A>G (p.Asn1978Ser) 112906840 MedGen:CN169374 16 3729114 3729114 T C 100958 single nucleotide variant NM_004380.2(CREBBP):c.5988C>T (p.Ala1996=) 181646656 MedGen:CN169374 16 3779060 3779060 G A 100958 single nucleotide variant NM_004380.2(CREBBP):c.5988C>T (p.Ala1996=) 181646656 MedGen:CN169374 16 3729059 3729059 G A 100959 single nucleotide variant NM_004380.2(CREBBP):c.6003T>C (p.Asn2001=) 200998860 MedGen:CN169374 16 3779045 3779045 A G 100959 single nucleotide variant NM_004380.2(CREBBP):c.6003T>C (p.Asn2001=) 200998860 MedGen:CN169374 16 3729044 3729044 A G 100960 single nucleotide variant NM_004380.2(CREBBP):c.6550A>G (p.Ser2184Gly) 398124149 MedGen:CN169374 16 3778498 3778498 T C 100960 single nucleotide variant NM_004380.2(CREBBP):c.6550A>G (p.Ser2184Gly) 398124149 MedGen:CN169374 16 3728497 3728497 T C 100961 single nucleotide variant NM_004380.2(CREBBP):c.6564G>A (p.Gln2188=) 73491896 MedGen:CN169374 16 3778484 3778484 C T 100961 single nucleotide variant NM_004380.2(CREBBP):c.6564G>A (p.Gln2188=) 73491896 MedGen:CN169374 16 3728483 3728483 C T 100962 single nucleotide variant NM_004380.2(CREBBP):c.6609A>G (p.Gln2203=) 62636220 MedGen:CN169374 16 3778439 3778439 T C 100962 single nucleotide variant NM_004380.2(CREBBP):c.6609A>G (p.Gln2203=) 62636220 MedGen:CN169374 16 3728438 3728438 T C 100963 single nucleotide variant NM_004380.2(CREBBP):c.6621A>G (p.Gln2207=) 55960450 MedGen:CN169374 16 3778427 3778427 T C 100963 single nucleotide variant NM_004380.2(CREBBP):c.6621A>G (p.Gln2207=) 55960450 MedGen:CN169374 16 3728426 3728426 T C 100964 single nucleotide variant NM_004380.2(CREBBP):c.6624A>G (p.Gln2208=) 142545779 MedGen:CN169374 16 3778424 3778424 T C 100964 single nucleotide variant NM_004380.2(CREBBP):c.6624A>G (p.Gln2208=) 142545779 MedGen:CN169374 16 3728423 3728423 T C 100965 single nucleotide variant NM_004380.2(CREBBP):c.6685G>A (p.Gly2229Ser) 139688311 MedGen:CN169374 16 3778363 3778363 C T 100965 single nucleotide variant NM_004380.2(CREBBP):c.6685G>A (p.Gly2229Ser) 139688311 MedGen:CN169374 16 3728362 3728362 C T 100966 single nucleotide variant NM_004380.2(CREBBP):c.6711C>T (p.Pro2237=) 3751845 MedGen:CN169374 16 3778337 3778337 G A 100966 single nucleotide variant NM_004380.2(CREBBP):c.6711C>T (p.Pro2237=) 3751845 MedGen:CN169374 16 3728336 3728336 G A 100967 single nucleotide variant NM_004380.2(CREBBP):c.7212A>G (p.Glu2404=) 55916120 MedGen:CN169374 16 3777836 3777836 T C 100967 single nucleotide variant NM_004380.2(CREBBP):c.7212A>G (p.Glu2404=) 55916120 MedGen:CN169374 16 3727835 3727835 T C 100968 single nucleotide variant NM_004380.2(CREBBP):c.753T>G (p.Thr251=) 142403441 MedGen:CN169374 16 3900343 3900343 A C 100968 single nucleotide variant NM_004380.2(CREBBP):c.753T>G (p.Thr251=) 142403441 MedGen:CN169374 16 3850342 3850342 A C 100969 deletion NM_004380.2(CREBBP):c.910delG (p.Val304Serfs) 398124150 MedGen:CN221809 16 3860669 3860669 C - 100969 deletion NM_004380.2(CREBBP):c.910delG (p.Val304Serfs) 398124150 MedGen:CN221809 16 3810668 3810668 C - 100970 single nucleotide variant NM_004380.2(CREBBP):c.939T>C (p.Asp313=) 3025702 MedGen:CN169374 16 3860640 3860640 A G 100970 single nucleotide variant NM_004380.2(CREBBP):c.939T>C (p.Asp313=) 3025702 MedGen:CN169374 16 3810639 3810639 A G 137663 single nucleotide variant NM_004380.2(CREBBP):c.2728A>T (p.Thr910Ser) 143247685 MedGen:CN169374 16 3820723 3820723 T A 137663 single nucleotide variant NM_004380.2(CREBBP):c.2728A>T (p.Thr910Ser) 143247685 MedGen:CN169374 16 3770722 3770722 T A 137664 single nucleotide variant NM_004380.2(CREBBP):c.2539C>A (p.Pro847Thr) 139050013 MedGen:CN169374 16 3820912 3820912 G T 137664 single nucleotide variant NM_004380.2(CREBBP):c.2539C>A (p.Pro847Thr) 139050013 MedGen:CN169374 16 3770911 3770911 G T 137665 single nucleotide variant NM_004380.2(CREBBP):c.3029C>T (p.Pro1010Leu) 139896431 MedGen:CN169374 16 3819206 3819206 G A 137665 single nucleotide variant NM_004380.2(CREBBP):c.3029C>T (p.Pro1010Leu) 139896431 MedGen:CN169374 16 3769205 3769205 G A 137666 single nucleotide variant NM_004380.2(CREBBP):c.3199A>G (p.Ser1067Gly) 587778210 MedGen:CN169374 16 3817772 3817772 T C 137666 single nucleotide variant NM_004380.2(CREBBP):c.3199A>G (p.Ser1067Gly) 587778210 MedGen:CN169374 16 3767771 3767771 T C 137667 single nucleotide variant NM_004380.2(CREBBP):c.3611A>T (p.Tyr1204Phe) 200346970 MedGen:CN169374 16 3807376 3807376 T A 137667 single nucleotide variant NM_004380.2(CREBBP):c.3611A>T (p.Tyr1204Phe) 200346970 MedGen:CN169374 16 3757375 3757375 T A 137668 single nucleotide variant NM_004380.2(CREBBP):c.346A>G (p.Ser116Gly) 587778211 MedGen:CN169374 16 3900750 3900750 T C 137668 single nucleotide variant NM_004380.2(CREBBP):c.346A>G (p.Ser116Gly) 587778211 MedGen:CN169374 16 3850749 3850749 T C 137669 single nucleotide variant NM_004380.2(CREBBP):c.383C>G (p.Ser128Cys) 55790011 MedGen:CN169374 16 3900713 3900713 G C 137669 single nucleotide variant NM_004380.2(CREBBP):c.383C>G (p.Ser128Cys) 55790011 MedGen:CN169374 16 3850712 3850712 G C 137670 single nucleotide variant NM_004380.2(CREBBP):c.271G>A (p.Ala91Thr) 200673670 MedGen:CN169374 16 3900825 3900825 C T 137670 single nucleotide variant NM_004380.2(CREBBP):c.271G>A (p.Ala91Thr) 200673670 MedGen:CN169374 16 3850824 3850824 C T 137671 single nucleotide variant NM_004380.2(CREBBP):c.293G>T (p.Gly98Val) 141982003 MedGen:CN169374 16 3900803 3900803 C A 137671 single nucleotide variant NM_004380.2(CREBBP):c.293G>T (p.Gly98Val) 141982003 MedGen:CN169374 16 3850802 3850802 C A 137672 single nucleotide variant NM_004380.2(CREBBP):c.760G>A (p.Ala254Thr) 148781922 MedGen:CN169374 16 3900336 3900336 C T 137672 single nucleotide variant NM_004380.2(CREBBP):c.760G>A (p.Ala254Thr) 148781922 MedGen:CN169374 16 3850335 3850335 C T 137673 single nucleotide variant NM_004380.2(CREBBP):c.895A>G (p.Ser299Gly) 149961222 MedGen:CN169374 16 3860684 3860684 T C 137673 single nucleotide variant NM_004380.2(CREBBP):c.895A>G (p.Ser299Gly) 149961222 MedGen:CN169374 16 3810683 3810683 T C 137674 single nucleotide variant NM_004380.2(CREBBP):c.964G>C (p.Val322Leu) 587778212 MedGen:CN169374 16 3860615 3860615 C G 137674 single nucleotide variant NM_004380.2(CREBBP):c.964G>C (p.Val322Leu) 587778212 MedGen:CN169374 16 3810614 3810614 C G 137675 deletion NM_004380.2(CREBBP):c.5967delG (p.Thr1990Profs) 587778213 MedGen:CN169374 16 3779081 3779081 C - 137675 deletion NM_004380.2(CREBBP):c.5967delG (p.Thr1990Profs) 587778213 MedGen:CN169374 16 3729080 3729080 C - 137676 single nucleotide variant NM_004380.2(CREBBP):c.6524A>G (p.Asn2175Ser) 587778214 MedGen:CN169374 16 3778524 3778524 T C 137676 single nucleotide variant NM_004380.2(CREBBP):c.6524A>G (p.Asn2175Ser) 587778214 MedGen:CN169374 16 3728523 3728523 T C 137677 single nucleotide variant NM_004380.2(CREBBP):c.6956A>T (p.His2319Leu) 587778215 MedGen:CN169374 16 3778092 3778092 T A 137677 single nucleotide variant NM_004380.2(CREBBP):c.6956A>T (p.His2319Leu) 587778215 MedGen:CN169374 16 3728091 3728091 T A 137678 single nucleotide variant NM_004380.2(CREBBP):c.5770G>A (p.Val1924Met) 368145743 MedGen:CN169374 16 3779278 3779278 C T 137678 single nucleotide variant NM_004380.2(CREBBP):c.5770G>A (p.Val1924Met) 368145743 MedGen:CN169374 16 3729277 3729277 C T 137679 single nucleotide variant NM_004380.2(CREBBP):c.6658G>A (p.Gly2220Ser) 141184151 MedGen:CN169374 16 3778390 3778390 C T 137679 single nucleotide variant NM_004380.2(CREBBP):c.6658G>A (p.Gly2220Ser) 141184151 MedGen:CN169374 16 3728389 3728389 C T 137680 single nucleotide variant NM_004380.2(CREBBP):c.1514C>T (p.Pro505Leu) 369550568 MedGen:CN169374 16 3832744 3832744 G A 137680 single nucleotide variant NM_004380.2(CREBBP):c.1514C>T (p.Pro505Leu) 369550568 MedGen:CN169374 16 3782743 3782743 G A 137681 single nucleotide variant NM_004380.2(CREBBP):c.1399G>A (p.Ala467Thr) 202225861 MedGen:CN169374 16 3832859 3832859 C T 137681 single nucleotide variant NM_004380.2(CREBBP):c.1399G>A (p.Ala467Thr) 202225861 MedGen:CN169374 16 3782858 3782858 C T 137682 single nucleotide variant NM_004380.2(CREBBP):c.1446G>T (p.Gln482His) 587778216 MedGen:CN169374 16 3832812 3832812 C A 137682 single nucleotide variant NM_004380.2(CREBBP):c.1446G>T (p.Gln482His) 587778216 MedGen:CN169374 16 3782811 3782811 C A 137683 single nucleotide variant NM_004380.2(CREBBP):c.2050G>A (p.Ala684Thr) 587778217 MedGen:CN169374 16 3828075 3828075 C T 137683 single nucleotide variant NM_004380.2(CREBBP):c.2050G>A (p.Ala684Thr) 587778217 MedGen:CN169374 16 3778074 3778074 C T 137684 single nucleotide variant NM_004380.2(CREBBP):c.2068G>T (p.Ala690Ser) 531539047 MedGen:CN169374 16 3828057 3828057 C A 137684 single nucleotide variant NM_004380.2(CREBBP):c.2068G>T (p.Ala690Ser) 531539047 MedGen:CN169374 16 3778056 3778056 C A 155292 copy number loss GRCh38/hg38 16p13.3(chr16:3726714-3759009)x1 -1 - 16 3776715 3809010 na na 155292 copy number loss GRCh38/hg38 16p13.3(chr16:3726714-3759009)x1 -1 - 16 3726714 3759009 na na 155292 copy number loss GRCh38/hg38 16p13.3(chr16:3726714-3759009)x1 -1 - 16 3716716 3749011 na na 164861 copy number loss GRCh38/hg38 16p13.3(chr16:3850966-3884581)x1 -1 - 16 3900967 3934582 na na 164861 copy number loss GRCh38/hg38 16p13.3(chr16:3850966-3884581)x1 -1 - 16 3850966 3884581 na na 164861 copy number loss GRCh38/hg38 16p13.3(chr16:3850966-3884581)x1 -1 - 16 3840968 3874583 na na 165317 copy number gain GRCh38/hg38 16p13.3(chr16:3777551-3799207)x3 -1 - 16 3827552 3849208 na na 165317 copy number gain GRCh38/hg38 16p13.3(chr16:3777551-3799207)x3 -1 - 16 3777551 3799207 na na 165317 copy number gain GRCh38/hg38 16p13.3(chr16:3777551-3799207)x3 -1 - 16 3767553 3789209 na na 169217 single nucleotide variant NM_004380.2(CREBBP):c.5454G>A (p.Val1818=) 61754523 MedGen:CN169374 16 3729593 3729593 C T 169203 single nucleotide variant NM_004380.2(CREBBP):c.7293G>A (p.Thr2431=) 587783514 MedGen:CN169374 16 3777755 3777755 C T 169203 single nucleotide variant NM_004380.2(CREBBP):c.7293G>A (p.Thr2431=) 587783514 MedGen:CN169374 16 3727754 3727754 C T 169204 single nucleotide variant NM_004380.2(CREBBP):c.7098G>C (p.Arg2366=) 587783513 MedGen:CN169374 16 3777950 3777950 C G 169204 single nucleotide variant NM_004380.2(CREBBP):c.7098G>C (p.Arg2366=) 587783513 MedGen:CN169374 16 3727949 3727949 C G 169205 single nucleotide variant NM_004380.2(CREBBP):c.7040C>T (p.Ala2347Val) 182347573 MedGen:CN169374 16 3778008 3778008 G A 169205 single nucleotide variant NM_004380.2(CREBBP):c.7040C>T (p.Ala2347Val) 182347573 MedGen:CN169374 16 3728007 3728007 G A 169206 single nucleotide variant NM_004380.2(CREBBP):c.6624A>C (p.Gln2208His) 142545779 MedGen:CN169374 16 3778424 3778424 T G 169206 single nucleotide variant NM_004380.2(CREBBP):c.6624A>C (p.Gln2208His) 142545779 MedGen:CN169374 16 3728423 3728423 T G 169207 single nucleotide variant NM_004380.2(CREBBP):c.6449C>T (p.Pro2150Leu) 587783512 MedGen:C0035934,OMIM:180849,Orphanet:ORPHA353277,SNOMED CT:C0035934 16 3778599 3778599 G A 169207 single nucleotide variant NM_004380.2(CREBBP):c.6449C>T (p.Pro2150Leu) 587783512 MedGen:C0035934,OMIM:180849,Orphanet:ORPHA353277,SNOMED CT:C0035934 16 3728598 3728598 G A 169208 deletion NM_004380.2(CREBBP):c.6130_6171del42 (p.Ala2044_Gln2057del) 587783511 MedGen:C0035934,OMIM:180849,Orphanet:ORPHA353277,SNOMED CT:C0035934 16 3778877 3778918 na na 169208 deletion NM_004380.2(CREBBP):c.6130_6171del42 (p.Ala2044_Gln2057del) 587783511 MedGen:C0035934,OMIM:180849,Orphanet:ORPHA353277,SNOMED CT:C0035934 16 3728876 3728917 na na 169209 single nucleotide variant NM_004380.2(CREBBP):c.6090G>A (p.Gln2030=) 374969185 MedGen:CN169374 16 3778958 3778958 C T 169209 single nucleotide variant NM_004380.2(CREBBP):c.6090G>A (p.Gln2030=) 374969185 MedGen:CN169374 16 3728957 3728957 C T 169210 single nucleotide variant NM_004380.2(CREBBP):c.6088C>T (p.Gln2030Ter) 587783510 MedGen:C0035934,OMIM:180849,Orphanet:ORPHA353277,SNOMED CT:C0035934 16 3728959 3728959 G A 169210 single nucleotide variant NM_004380.2(CREBBP):c.6088C>T (p.Gln2030Ter) 587783510 MedGen:C0035934,OMIM:180849,Orphanet:ORPHA353277,SNOMED CT:C0035934 16 3778960 3778960 G A 169211 deletion NM_004380.2(CREBBP):c.5869delG (p.Glu1957Lysfs) 587783508 MedGen:C0035934,OMIM:180849,Orphanet:ORPHA353277,SNOMED CT:C0035934 16 3779179 3779179 C - 169211 deletion NM_004380.2(CREBBP):c.5869delG (p.Glu1957Lysfs) 587783508 MedGen:C0035934,OMIM:180849,Orphanet:ORPHA353277,SNOMED CT:C0035934 16 3729178 3729178 C - 169212 deletion NM_004380.2(CREBBP):c.5834_5844delCCCCACCCCCG (p.Pro1945Argfs) 587783506 MedGen:C0035934,OMIM:180849,Orphanet:ORPHA353277,SNOMED CT:C0035934 16 3779204 3779214 CGGGGGTGGGG - 169212 deletion NM_004380.2(CREBBP):c.5834_5844delCCCCACCCCCG (p.Pro1945Argfs) 587783506 MedGen:C0035934,OMIM:180849,Orphanet:ORPHA353277,SNOMED CT:C0035934 16 3729203 3729213 CGGGGGTGGGG - 169213 deletion NM_004380.2(CREBBP):c.5837delC (p.Pro1946Hisfs) 587783507 MedGen:C0035934,OMIM:180849,Orphanet:ORPHA353277,SNOMED CT:C0035934 16 3779211 3779211 G - 169213 deletion NM_004380.2(CREBBP):c.5837delC (p.Pro1946Hisfs) 587783507 MedGen:C0035934,OMIM:180849,Orphanet:ORPHA353277,SNOMED CT:C0035934 16 3729210 3729210 G - 169214 single nucleotide variant NM_004380.2(CREBBP):c.5829G>A (p.Pro1943=) 546554430 MedGen:CN169374 16 3779219 3779219 C T 169214 single nucleotide variant NM_004380.2(CREBBP):c.5829G>A (p.Pro1943=) 546554430 MedGen:CN169374 16 3729218 3729218 C T 169215 single nucleotide variant NM_004380.2(CREBBP):c.5821C>T (p.Gln1941Ter) 587783505 MedGen:C0035934,OMIM:180849,Orphanet:ORPHA353277,SNOMED CT:C0035934 16 3779227 3779227 G A 169215 single nucleotide variant NM_004380.2(CREBBP):c.5821C>T (p.Gln1941Ter) 587783505 MedGen:C0035934,OMIM:180849,Orphanet:ORPHA353277,SNOMED CT:C0035934 16 3729226 3729226 G A 169216 single nucleotide variant NM_004380.2(CREBBP):c.5800T>C (p.Ser1934Pro) 587783504 MedGen:C0035934,OMIM:180849,Orphanet:ORPHA353277,SNOMED CT:C0035934;MedGen:CN169374 16 3779248 3779248 A G 169216 single nucleotide variant NM_004380.2(CREBBP):c.5800T>C (p.Ser1934Pro) 587783504 MedGen:C0035934,OMIM:180849,Orphanet:ORPHA353277,SNOMED CT:C0035934;MedGen:CN169374 16 3729247 3729247 A G 169217 single nucleotide variant NM_004380.2(CREBBP):c.5454G>A (p.Val1818=) 61754523 MedGen:CN169374 16 3779594 3779594 C T 169218 single nucleotide variant NM_004380.2(CREBBP):c.5050T>C (p.Ser1684Pro) 587783503 MedGen:C0035934,OMIM:180849,Orphanet:ORPHA353277,SNOMED CT:C0035934 16 3781315 3781315 A G 169218 single nucleotide variant NM_004380.2(CREBBP):c.5050T>C (p.Ser1684Pro) 587783503 MedGen:C0035934,OMIM:180849,Orphanet:ORPHA353277,SNOMED CT:C0035934 16 3731314 3731314 A G 169219 deletion NM_004380.2(CREBBP):c.5039_5041delCCT (p.Ser1680del) 587783502 MedGen:C0035934,OMIM:180849,Orphanet:ORPHA353277,SNOMED CT:C0035934 16 3781324 3781326 AGG - 169219 deletion NM_004380.2(CREBBP):c.5039_5041delCCT (p.Ser1680del) 587783502 MedGen:C0035934,OMIM:180849,Orphanet:ORPHA353277,SNOMED CT:C0035934 16 3731323 3731325 AGG - 169220 single nucleotide variant NM_004380.2(CREBBP):c.4894T>C (p.Phe1632Leu) 587783501 MedGen:C0035934,OMIM:180849,Orphanet:ORPHA353277,SNOMED CT:C0035934 16 3781471 3781471 A G 169220 single nucleotide variant NM_004380.2(CREBBP):c.4894T>C (p.Phe1632Leu) 587783501 MedGen:C0035934,OMIM:180849,Orphanet:ORPHA353277,SNOMED CT:C0035934 16 3731470 3731470 A G 169221 deletion NM_004380.2(CREBBP):c.4792delA (p.Ser1598Alafs) 587783500 MedGen:C0035934,OMIM:180849,Orphanet:ORPHA353277,SNOMED CT:C0035934 16 3781875 3781875 T - 169221 deletion NM_004380.2(CREBBP):c.4792delA (p.Ser1598Alafs) 587783500 MedGen:C0035934,OMIM:180849,Orphanet:ORPHA353277,SNOMED CT:C0035934 16 3731874 3731874 T - 169222 single nucleotide variant NM_004380.2(CREBBP):c.4729-14G>C 130008 MedGen:CN169374 16 3781952 3781952 C G 169222 single nucleotide variant NM_004380.2(CREBBP):c.4729-14G>C 130008 MedGen:CN169374 16 3731951 3731951 C G 169223 deletion NM_004380.2(CREBBP):c.4689delG (p.Lys1565Argfs) 587783499 MedGen:C0035934,OMIM:180849,Orphanet:ORPHA353277,SNOMED CT:C0035934 16 3786076 3786076 C - 169223 deletion NM_004380.2(CREBBP):c.4689delG (p.Lys1565Argfs) 587783499 MedGen:C0035934,OMIM:180849,Orphanet:ORPHA353277,SNOMED CT:C0035934 16 3736075 3736075 C - 169224 single nucleotide variant NM_004380.2(CREBBP):c.4560+14A>G 200934101 MedGen:CN169374 16 3786637 3786637 T C 169224 single nucleotide variant NM_004380.2(CREBBP):c.4560+14A>G 200934101 MedGen:CN169374 16 3736636 3736636 T C 169225 single nucleotide variant NM_004380.2(CREBBP):c.4560+7G>A 587783498 MedGen:CN169374 16 3786644 3786644 C T 169225 single nucleotide variant NM_004380.2(CREBBP):c.4560+7G>A 587783498 MedGen:CN169374 16 3736643 3736643 C T 169226 single nucleotide variant NM_004380.2(CREBBP):c.4508A>G (p.Tyr1503Cys) 587783497 MedGen:C0035934,OMIM:180849,Orphanet:ORPHA353277,SNOMED CT:C0035934 16 3786703 3786703 T C 169226 single nucleotide variant NM_004380.2(CREBBP):c.4508A>G (p.Tyr1503Cys) 587783497 MedGen:C0035934,OMIM:180849,Orphanet:ORPHA353277,SNOMED CT:C0035934 16 3736702 3736702 T C 169227 single nucleotide variant NM_004380.2(CREBBP):c.4445A>G (p.Tyr1482Cys) 587783496 MedGen:C0035934,OMIM:180849,Orphanet:ORPHA353277,SNOMED CT:C0035934 16 3786766 3786766 T C 169227 single nucleotide variant NM_004380.2(CREBBP):c.4445A>G (p.Tyr1482Cys) 587783496 MedGen:C0035934,OMIM:180849,Orphanet:ORPHA353277,SNOMED CT:C0035934 16 3736765 3736765 T C 169228 single nucleotide variant NM_004380.2(CREBBP):c.4444T>G (p.Tyr1482Asp) 587783495 MedGen:C0035934,OMIM:180849,Orphanet:ORPHA353277,SNOMED CT:C0035934 16 3786767 3786767 A C 169228 single nucleotide variant NM_004380.2(CREBBP):c.4444T>G (p.Tyr1482Asp) 587783495 MedGen:C0035934,OMIM:180849,Orphanet:ORPHA353277,SNOMED CT:C0035934 16 3736766 3736766 A C 169229 single nucleotide variant NM_004380.2(CREBBP):c.4398T>A (p.Tyr1466Ter) 147688139 MedGen:C0035934,OMIM:180849,Orphanet:ORPHA353277,SNOMED CT:C0035934 16 3786813 3786813 A T 169229 single nucleotide variant NM_004380.2(CREBBP):c.4398T>A (p.Tyr1466Ter) 147688139 MedGen:C0035934,OMIM:180849,Orphanet:ORPHA353277,SNOMED CT:C0035934 16 3736812 3736812 A T 169230 single nucleotide variant NM_004380.2(CREBBP):c.4376A>G (p.Glu1459Gly) 587783494 MedGen:C0035934,OMIM:180849,Orphanet:ORPHA353277,SNOMED CT:C0035934 16 3788578 3788578 T C 169230 single nucleotide variant NM_004380.2(CREBBP):c.4376A>G (p.Glu1459Gly) 587783494 MedGen:C0035934,OMIM:180849,Orphanet:ORPHA353277,SNOMED CT:C0035934 16 3738577 3738577 T C 169231 single nucleotide variant NM_004380.2(CREBBP):c.4281-11C>G 587783493 MedGen:C0035934,OMIM:180849,Orphanet:ORPHA353277,SNOMED CT:C0035934 16 3788684 3788684 G C 169231 single nucleotide variant NM_004380.2(CREBBP):c.4281-11C>G 587783493 MedGen:C0035934,OMIM:180849,Orphanet:ORPHA353277,SNOMED CT:C0035934 16 3738683 3738683 G C 169232 single nucleotide variant NM_004380.2(CREBBP):c.4280+8T>C 376814421 MedGen:CN169374 16 3789571 3789571 A G 169232 single nucleotide variant NM_004380.2(CREBBP):c.4280+8T>C 376814421 MedGen:CN169374 16 3739570 3739570 A G 169233 single nucleotide variant NM_004380.2(CREBBP):c.4226T>C (p.Phe1409Ser) 587783492 MedGen:C0035934,OMIM:180849,Orphanet:ORPHA353277,SNOMED CT:C0035934 16 3789633 3789633 A G 169233 single nucleotide variant NM_004380.2(CREBBP):c.4226T>C (p.Phe1409Ser) 587783492 MedGen:C0035934,OMIM:180849,Orphanet:ORPHA353277,SNOMED CT:C0035934 16 3739632 3739632 A G 169234 single nucleotide variant NM_004380.2(CREBBP):c.4133+1G>A 587783491 MedGen:C0035934,OMIM:180849,Orphanet:ORPHA353277,SNOMED CT:C0035934 16 3790399 3790399 C T 169234 single nucleotide variant NM_004380.2(CREBBP):c.4133+1G>A 587783491 MedGen:C0035934,OMIM:180849,Orphanet:ORPHA353277,SNOMED CT:C0035934 16 3740398 3740398 C T 169235 single nucleotide variant NM_004380.2(CREBBP):c.4078C>T (p.Arg1360Ter) 587783490 MedGen:C0035934,OMIM:180849,Orphanet:ORPHA353277,SNOMED CT:C0035934 16 3790455 3790455 G A 169235 single nucleotide variant NM_004380.2(CREBBP):c.4078C>T (p.Arg1360Ter) 587783490 MedGen:C0035934,OMIM:180849,Orphanet:ORPHA353277,SNOMED CT:C0035934 16 3740454 3740454 G A 169236 single nucleotide variant NM_004380.2(CREBBP):c.4045C>T (p.Gln1349Ter) 587783489 MedGen:C0035934,OMIM:180849,Orphanet:ORPHA353277,SNOMED CT:C0035934 16 3790488 3790488 G A 169236 single nucleotide variant NM_004380.2(CREBBP):c.4045C>T (p.Gln1349Ter) 587783489 MedGen:C0035934,OMIM:180849,Orphanet:ORPHA353277,SNOMED CT:C0035934 16 3740487 3740487 G A 169237 single nucleotide variant NM_004380.2(CREBBP):c.4022G>C (p.Arg1341Pro) 587783488 MedGen:C0035934,OMIM:180849,Orphanet:ORPHA353277,SNOMED CT:C0035934 16 3790511 3790511 C G 169237 single nucleotide variant NM_004380.2(CREBBP):c.4022G>C (p.Arg1341Pro) 587783488 MedGen:C0035934,OMIM:180849,Orphanet:ORPHA353277,SNOMED CT:C0035934 16 3740510 3740510 C G 169238 single nucleotide variant NM_004380.2(CREBBP):c.3989A>G (p.Gln1330Arg) 587783487 MedGen:C0035934,OMIM:180849,Orphanet:ORPHA353277,SNOMED CT:C0035934 16 3790544 3790544 T C 169238 single nucleotide variant NM_004380.2(CREBBP):c.3989A>G (p.Gln1330Arg) 587783487 MedGen:C0035934,OMIM:180849,Orphanet:ORPHA353277,SNOMED CT:C0035934 16 3740543 3740543 T C 169239 single nucleotide variant NM_004380.2(CREBBP):c.3983-2A>G 587783486 MedGen:C0035934,OMIM:180849,Orphanet:ORPHA353277,SNOMED CT:C0035934 16 3790552 3790552 T C 169239 single nucleotide variant NM_004380.2(CREBBP):c.3983-2A>G 587783486 MedGen:C0035934,OMIM:180849,Orphanet:ORPHA353277,SNOMED CT:C0035934 16 3740551 3740551 T C 169240 single nucleotide variant NM_004380.2(CREBBP):c.3914+3G>T 587783485 MedGen:C0035934,OMIM:180849,Orphanet:ORPHA353277,SNOMED CT:C0035934 16 3795275 3795275 C A 169240 single nucleotide variant NM_004380.2(CREBBP):c.3914+3G>T 587783485 MedGen:C0035934,OMIM:180849,Orphanet:ORPHA353277,SNOMED CT:C0035934 16 3745274 3745274 C A 169241 single nucleotide variant NM_004380.2(CREBBP):c.3900C>A (p.Ile1300=) 129974 MedGen:CN169374 16 3795292 3795292 G T 169241 single nucleotide variant NM_004380.2(CREBBP):c.3900C>A (p.Ile1300=) 129974 MedGen:CN169374 16 3745291 3745291 G T 169242 single nucleotide variant NM_004380.2(CREBBP):c.3836+1G>A 200782888 MedGen:C0035934,OMIM:180849,Orphanet:ORPHA353277,SNOMED CT:C0035934 16 3799627 3799627 C T 169242 single nucleotide variant NM_004380.2(CREBBP):c.3836+1G>A 200782888 MedGen:C0035934,OMIM:180849,Orphanet:ORPHA353277,SNOMED CT:C0035934 16 3749626 3749626 C T 169243 single nucleotide variant NM_004380.2(CREBBP):c.3779+1G>A 587783483 MedGen:C0035934,OMIM:180849,Orphanet:ORPHA353277,SNOMED CT:C0035934;MedGen:CN221809 16 3801726 3801726 C T 169243 single nucleotide variant NM_004380.2(CREBBP):c.3779+1G>A 587783483 MedGen:C0035934,OMIM:180849,Orphanet:ORPHA353277,SNOMED CT:C0035934;MedGen:CN221809 16 3751725 3751725 C T 169244 single nucleotide variant NM_004380.2(CREBBP):c.3613G>T (p.Glu1205Ter) 587783482 MedGen:C0035934,OMIM:180849,Orphanet:ORPHA353277,SNOMED CT:C0035934 16 3807374 3807374 C A 169244 single nucleotide variant NM_004380.2(CREBBP):c.3613G>T (p.Glu1205Ter) 587783482 MedGen:C0035934,OMIM:180849,Orphanet:ORPHA353277,SNOMED CT:C0035934 16 3757373 3757373 C A 169245 single nucleotide variant NM_004380.2(CREBBP):c.3500A>G (p.Tyr1167Cys) 587783481 MedGen:C0035934,OMIM:180849,Orphanet:ORPHA353277,SNOMED CT:C0035934 16 3807919 3807919 T C 169245 single nucleotide variant NM_004380.2(CREBBP):c.3500A>G (p.Tyr1167Cys) 587783481 MedGen:C0035934,OMIM:180849,Orphanet:ORPHA353277,SNOMED CT:C0035934 16 3757918 3757918 T C 169246 single nucleotide variant NM_004380.2(CREBBP):c.3369+1G>T 587783480 MedGen:C0035934,OMIM:180849,Orphanet:ORPHA353277,SNOMED CT:C0035934 16 3808854 3808854 C A 169246 single nucleotide variant NM_004380.2(CREBBP):c.3369+1G>T 587783480 MedGen:C0035934,OMIM:180849,Orphanet:ORPHA353277,SNOMED CT:C0035934 16 3758853 3758853 C A 169247 single nucleotide variant NM_004380.2(CREBBP):c.3310C>T (p.Gln1104Ter) 587783479 MedGen:C0035934,OMIM:180849,Orphanet:ORPHA353277,SNOMED CT:C0035934 16 3808914 3808914 G A 169247 single nucleotide variant NM_004380.2(CREBBP):c.3310C>T (p.Gln1104Ter) 587783479 MedGen:C0035934,OMIM:180849,Orphanet:ORPHA353277,SNOMED CT:C0035934 16 3758913 3758913 G A 169248 single nucleotide variant NM_004380.2(CREBBP):c.2791C>T (p.Gln931Ter) 587783475 MedGen:C0035934,OMIM:180849,Orphanet:ORPHA353277,SNOMED CT:C0035934 16 3820660 3820660 G A 169248 single nucleotide variant NM_004380.2(CREBBP):c.2791C>T (p.Gln931Ter) 587783475 MedGen:C0035934,OMIM:180849,Orphanet:ORPHA353277,SNOMED CT:C0035934 16 3770659 3770659 G A 169249 single nucleotide variant NM_004380.2(CREBBP):c.2784G>A (p.Pro928=) 3025694 MedGen:CN169374 16 3820667 3820667 C T 169249 single nucleotide variant NM_004380.2(CREBBP):c.2784G>A (p.Pro928=) 3025694 MedGen:CN169374 16 3770666 3770666 C T 169250 single nucleotide variant NM_004380.2(CREBBP):c.2679G>A (p.Ser893=) 587783474 MedGen:C0035934,OMIM:180849,Orphanet:ORPHA353277,SNOMED CT:C0035934 16 3820772 3820772 C T 169250 single nucleotide variant NM_004380.2(CREBBP):c.2679G>A (p.Ser893=) 587783474 MedGen:C0035934,OMIM:180849,Orphanet:ORPHA353277,SNOMED CT:C0035934 16 3770771 3770771 C T 169251 deletion NM_004380.2(CREBBP):c.2606_2607delTC (p.Leu869Profs) 587783473 MedGen:C0035934,OMIM:180849,Orphanet:ORPHA353277,SNOMED CT:C0035934 16 3820844 3820845 GA - 169251 deletion NM_004380.2(CREBBP):c.2606_2607delTC (p.Leu869Profs) 587783473 MedGen:C0035934,OMIM:180849,Orphanet:ORPHA353277,SNOMED CT:C0035934 16 3770843 3770844 GA - 169252 single nucleotide variant NM_004380.2(CREBBP):c.2606T>C (p.Leu869Pro) 587783472 MedGen:C0035934,OMIM:180849,Orphanet:ORPHA353277,SNOMED CT:C0035934 16 3820845 3820845 A G 169252 single nucleotide variant NM_004380.2(CREBBP):c.2606T>C (p.Leu869Pro) 587783472 MedGen:C0035934,OMIM:180849,Orphanet:ORPHA353277,SNOMED CT:C0035934 16 3770844 3770844 A G 169253 single nucleotide variant NM_004380.2(CREBBP):c.2535C>A (p.Cys845Ter) 587783471 MedGen:C0035934,OMIM:180849,Orphanet:ORPHA353277,SNOMED CT:C0035934 16 3820916 3820916 G T 169253 single nucleotide variant NM_004380.2(CREBBP):c.2535C>A (p.Cys845Ter) 587783471 MedGen:C0035934,OMIM:180849,Orphanet:ORPHA353277,SNOMED CT:C0035934 16 3770915 3770915 G T 169254 deletion NM_004380.2(CREBBP):c.2122_2123delCT (p.Leu708Valfs) 587783470 MedGen:C0035934,OMIM:180849,Orphanet:ORPHA353277,SNOMED CT:C0035934 16 3827649 3827650 AG - 169254 deletion NM_004380.2(CREBBP):c.2122_2123delCT (p.Leu708Valfs) 587783470 MedGen:C0035934,OMIM:180849,Orphanet:ORPHA353277,SNOMED CT:C0035934 16 3777648 3777649 AG - 169255 deletion NM_004380.2(CREBBP):c.2026delC (p.Gln676Lysfs) 587783469 MedGen:C0035934,OMIM:180849,Orphanet:ORPHA353277,SNOMED CT:C0035934 16 3828099 3828099 G - 169255 deletion NM_004380.2(CREBBP):c.2026delC (p.Gln676Lysfs) 587783469 MedGen:C0035934,OMIM:180849,Orphanet:ORPHA353277,SNOMED CT:C0035934 16 3778098 3778098 G - 169256 single nucleotide variant NM_004380.2(CREBBP):c.1955A>C (p.His652Pro) 587783468 MedGen:C0035934,OMIM:180849,Orphanet:ORPHA353277,SNOMED CT:C0035934 16 3828170 3828170 T G 169256 single nucleotide variant NM_004380.2(CREBBP):c.1955A>C (p.His652Pro) 587783468 MedGen:C0035934,OMIM:180849,Orphanet:ORPHA353277,SNOMED CT:C0035934 16 3778169 3778169 T G 169257 single nucleotide variant NM_004380.2(CREBBP):c.1953T>C (p.Tyr651=) 130003 MedGen:CN169374 16 3828172 3828172 A G 169257 single nucleotide variant NM_004380.2(CREBBP):c.1953T>C (p.Tyr651=) 130003 MedGen:CN169374 16 3778171 3778171 A G 169258 deletion NM_004380.2(CREBBP):c.1821delA (p.Lys607Asnfs) 587783467 MedGen:C0035934,OMIM:180849,Orphanet:ORPHA353277,SNOMED CT:C0035934 16 3830735 3830735 T - 169258 deletion NM_004380.2(CREBBP):c.1821delA (p.Lys607Asnfs) 587783467 MedGen:C0035934,OMIM:180849,Orphanet:ORPHA353277,SNOMED CT:C0035934 16 3780734 3780734 T - 169259 deletion NM_004380.2(CREBBP):c.1590delC (p.Asn530Lysfs) 587783465 MedGen:C0035934,OMIM:180849,Orphanet:ORPHA353277,SNOMED CT:C0035934 16 3831291 3831291 G - 169259 deletion NM_004380.2(CREBBP):c.1590delC (p.Asn530Lysfs) 587783465 MedGen:C0035934,OMIM:180849,Orphanet:ORPHA353277,SNOMED CT:C0035934 16 3781290 3781290 G - 169260 single nucleotide variant NM_004380.2(CREBBP):c.1270C>T (p.Arg424Ter) 587783464 MedGen:C0035934,OMIM:180849,Orphanet:ORPHA353277,SNOMED CT:C0035934 16 3842042 3842042 G A 169260 single nucleotide variant NM_004380.2(CREBBP):c.1270C>T (p.Arg424Ter) 587783464 MedGen:C0035934,OMIM:180849,Orphanet:ORPHA353277,SNOMED CT:C0035934 16 3792041 3792041 G A 169261 single nucleotide variant NM_004380.2(CREBBP):c.1257G>A (p.Trp419Ter) 587783463 MedGen:C0035934,OMIM:180849,Orphanet:ORPHA353277,SNOMED CT:C0035934 16 3842055 3842055 C T 169261 single nucleotide variant NM_004380.2(CREBBP):c.1257G>A (p.Trp419Ter) 587783463 MedGen:C0035934,OMIM:180849,Orphanet:ORPHA353277,SNOMED CT:C0035934 16 3792054 3792054 C T 169262 single nucleotide variant NM_004380.2(CREBBP):c.1211G>C (p.Cys404Ser) 587783462 MedGen:CN169374 16 3843392 3843392 C G 169262 single nucleotide variant NM_004380.2(CREBBP):c.1211G>C (p.Cys404Ser) 587783462 MedGen:CN169374 16 3793391 3793391 C G 169263 single nucleotide variant NM_004380.2(CREBBP):c.1156C>T (p.Arg386Ter) 587783461 MedGen:C0035934,OMIM:180849,Orphanet:ORPHA353277,SNOMED CT:C0035934 16 3843447 3843447 G A 169263 single nucleotide variant NM_004380.2(CREBBP):c.1156C>T (p.Arg386Ter) 587783461 MedGen:C0035934,OMIM:180849,Orphanet:ORPHA353277,SNOMED CT:C0035934 16 3793446 3793446 G A 169264 single nucleotide variant NM_004380.2(CREBBP):c.1063C>T (p.Gln355Ter) 587783460 MedGen:C0035934,OMIM:180849,Orphanet:ORPHA353277,SNOMED CT:C0035934 16 3843540 3843540 G A 169264 single nucleotide variant NM_004380.2(CREBBP):c.1063C>T (p.Gln355Ter) 587783460 MedGen:C0035934,OMIM:180849,Orphanet:ORPHA353277,SNOMED CT:C0035934 16 3793539 3793539 G A 169265 single nucleotide variant NM_004380.2(CREBBP):c.953C>A (p.Ser318Ter) 587783516 MedGen:C0035934,OMIM:180849,Orphanet:ORPHA353277,SNOMED CT:C0035934 16 3860626 3860626 G T 169265 single nucleotide variant NM_004380.2(CREBBP):c.953C>A (p.Ser318Ter) 587783516 MedGen:C0035934,OMIM:180849,Orphanet:ORPHA353277,SNOMED CT:C0035934 16 3810625 3810625 G T 169266 single nucleotide variant NM_004380.2(CREBBP):c.598C>T (p.Gln200Ter) 587783509 MedGen:C0035934,OMIM:180849,Orphanet:ORPHA353277,SNOMED CT:C0035934 16 3900498 3900498 G A 169266 single nucleotide variant NM_004380.2(CREBBP):c.598C>T (p.Gln200Ter) 587783509 MedGen:C0035934,OMIM:180849,Orphanet:ORPHA353277,SNOMED CT:C0035934 16 3850497 3850497 G A 169267 single nucleotide variant NM_004380.2(CREBBP):c.316C>T (p.Gln106Ter) 587783478 MedGen:C0035934,OMIM:180849,Orphanet:ORPHA353277,SNOMED CT:C0035934 16 3900780 3900780 G A 169267 single nucleotide variant NM_004380.2(CREBBP):c.316C>T (p.Gln106Ter) 587783478 MedGen:C0035934,OMIM:180849,Orphanet:ORPHA353277,SNOMED CT:C0035934 16 3850779 3850779 G A 169268 deletion NM_004380.2(CREBBP):c.299delG (p.Gly100Valfs) 587783477 MedGen:C0035934,OMIM:180849,Orphanet:ORPHA353277,SNOMED CT:C0035934 16 3900797 3900797 C - 169268 deletion NM_004380.2(CREBBP):c.299delG (p.Gly100Valfs) 587783477 MedGen:C0035934,OMIM:180849,Orphanet:ORPHA353277,SNOMED CT:C0035934 16 3850796 3850796 C - 169269 single nucleotide variant NM_004380.2(CREBBP):c.286C>T (p.Gln96Ter) 587783476 MedGen:C0035934,OMIM:180849,Orphanet:ORPHA353277,SNOMED CT:C0035934 16 3900810 3900810 G A 169269 single nucleotide variant NM_004380.2(CREBBP):c.286C>T (p.Gln96Ter) 587783476 MedGen:C0035934,OMIM:180849,Orphanet:ORPHA353277,SNOMED CT:C0035934 16 3850809 3850809 G A 169270 single nucleotide variant NM_004380.2(CREBBP):c.164A>G (p.Asn55Ser) 587783466 MedGen:C0035934,OMIM:180849,Orphanet:ORPHA353277,SNOMED CT:C0035934 16 3900932 3900932 T C 169270 single nucleotide variant NM_004380.2(CREBBP):c.164A>G (p.Asn55Ser) 587783466 MedGen:C0035934,OMIM:180849,Orphanet:ORPHA353277,SNOMED CT:C0035934 16 3850931 3850931 T C 169271 single nucleotide variant NM_004380.2(CREBBP):c.86-2A>C 587783515 MedGen:C0035934,OMIM:180849,Orphanet:ORPHA353277,SNOMED CT:C0035934 16 3901012 3901012 T G 169271 single nucleotide variant NM_004380.2(CREBBP):c.86-2A>C 587783515 MedGen:C0035934,OMIM:180849,Orphanet:ORPHA353277,SNOMED CT:C0035934 16 3851011 3851011 T G 169272 single nucleotide variant NM_004380.2(CREBBP):c.37A>G (p.Lys13Glu) 587783484 MedGen:C0035934,OMIM:180849,Orphanet:ORPHA353277,SNOMED CT:C0035934 16 3929881 3929881 T C 169272 single nucleotide variant NM_004380.2(CREBBP):c.37A>G (p.Lys13Glu) 587783484 MedGen:C0035934,OMIM:180849,Orphanet:ORPHA353277,SNOMED CT:C0035934 16 3879880 3879880 T C 177153 single nucleotide variant NM_004380.2(CREBBP):c.701C>T (p.Ala234Val) 727503892 MedGen:CN169374 16 3900395 3900395 G A 177153 single nucleotide variant NM_004380.2(CREBBP):c.701C>T (p.Ala234Val) 727503892 MedGen:CN169374 16 3850394 3850394 G A 177285 single nucleotide variant NM_004380.2(CREBBP):c.1732C>T (p.Pro578Ser) 148023511 MedGen:CN169374 16 3830824 3830824 G A 177285 single nucleotide variant NM_004380.2(CREBBP):c.1732C>T (p.Pro578Ser) 148023511 MedGen:CN169374 16 3780823 3780823 G A 177650 single nucleotide variant NM_004380.2(CREBBP):c.7302G>A (p.Thr2434=) 144609433 MedGen:CN169374 16 3777746 3777746 C T 177650 single nucleotide variant NM_004380.2(CREBBP):c.7302G>A (p.Thr2434=) 144609433 MedGen:CN169374 16 3727745 3727745 C T 177651 deletion NM_004380.2(CREBBP):c.6621_6629delACAACAGCA (p.Gln2214_Gln2216del) 727503890 MedGen:CN169374 16 3778419 3778427 TGCTGTTGT - 177651 deletion NM_004380.2(CREBBP):c.6621_6629delACAACAGCA (p.Gln2214_Gln2216del) 727503890 MedGen:CN169374 16 3728418 3728426 TGCTGTTGT - 177652 single nucleotide variant NM_004380.2(CREBBP):c.4617T>C (p.Tyr1539=) 727503891 MedGen:CN169374 16 3786148 3786148 A G 177652 single nucleotide variant NM_004380.2(CREBBP):c.4617T>C (p.Tyr1539=) 727503891 MedGen:CN169374 16 3736147 3736147 A G 177653 single nucleotide variant NM_004380.2(CREBBP):c.2850G>A (p.Thr950=) 141651423 MedGen:CN169374 16 3820601 3820601 C T 177653 single nucleotide variant NM_004380.2(CREBBP):c.2850G>A (p.Thr950=) 141651423 MedGen:CN169374 16 3770600 3770600 C T 177654 single nucleotide variant NM_004380.2(CREBBP):c.2526G>A (p.Gln842=) 141775567 MedGen:CN169374 16 3820925 3820925 C T 177654 single nucleotide variant NM_004380.2(CREBBP):c.2526G>A (p.Gln842=) 141775567 MedGen:CN169374 16 3770924 3770924 C T 177655 single nucleotide variant NM_004380.2(CREBBP):c.252A>G (p.Pro84=) 727503893 MedGen:CN169374 16 3900844 3900844 T C 177655 single nucleotide variant NM_004380.2(CREBBP):c.252A>G (p.Pro84=) 727503893 MedGen:CN169374 16 3850843 3850843 T C 188104 single nucleotide variant NM_004380.2(CREBBP):c.7210G>A (p.Glu2404Lys) 863223334 MedGen:C2931876,OMIM:142623 16 3777838 3777838 C T 188104 single nucleotide variant NM_004380.2(CREBBP):c.7210G>A (p.Glu2404Lys) 863223334 MedGen:C2931876,OMIM:142623 16 3727837 3727837 C T 188871 single nucleotide variant NM_004380.2(CREBBP):c.4890+2T>C 786205495 MedGen:CN221809 16 3781775 3781775 A G 188871 single nucleotide variant NM_004380.2(CREBBP):c.4890+2T>C 786205495 MedGen:CN221809 16 3731774 3731774 A G 191380 single nucleotide variant NM_004380.2(CREBBP):c.2399C>T (p.Pro800Leu) 371771785 MedGen:CN169374 16 3823816 3823816 G A 191380 single nucleotide variant NM_004380.2(CREBBP):c.2399C>T (p.Pro800Leu) 371771785 MedGen:CN169374 16 3773815 3773815 G A 191549 deletion NM_004380.2(CREBBP):c.2685delC (p.Gln897Argfs) 794727124 MedGen:C0035934,OMIM:180849,Orphanet:ORPHA353277,SNOMED CT:C0035934 16 3820766 3820766 G - 191549 deletion NM_004380.2(CREBBP):c.2685delC (p.Gln897Argfs) 794727124 MedGen:C0035934,OMIM:180849,Orphanet:ORPHA353277,SNOMED CT:C0035934 16 3770765 3770765 G - 191672 single nucleotide variant NM_004380.2(CREBBP):c.2903T>C (p.Ile968Thr) 147795744 MedGen:CN169374 16 3819332 3819332 A G 191672 single nucleotide variant NM_004380.2(CREBBP):c.2903T>C (p.Ile968Thr) 147795744 MedGen:CN169374 16 3769331 3769331 A G 191800 single nucleotide variant NM_004380.2(CREBBP):c.3158C>T (p.Pro1053Leu) 142008620 MedGen:CN169374 16 3817813 3817813 G A 191800 single nucleotide variant NM_004380.2(CREBBP):c.3158C>T (p.Pro1053Leu) 142008620 MedGen:CN169374 16 3767812 3767812 G A 191801 single nucleotide variant NM_004380.2(CREBBP):c.3089C>T (p.Ser1030Phe) 757051244 MedGen:CN169374 16 3817882 3817882 G A 191801 single nucleotide variant NM_004380.2(CREBBP):c.3089C>T (p.Ser1030Phe) 757051244 MedGen:CN169374 16 3767881 3767881 G A 192013 deletion NM_004380.2(CREBBP):c.3370-5_3370-4delTT 757066377 MedGen:CN169374 16 3808053 3808054 AA - 192013 deletion NM_004380.2(CREBBP):c.3370-5_3370-4delTT 757066377 MedGen:CN169374 16 3758052 3758053 AA - 192117 single nucleotide variant NM_004380.2(CREBBP):c.3698+7G>A 374345970 MedGen:CN169374 16 3807282 3807282 C T 192117 single nucleotide variant NM_004380.2(CREBBP):c.3698+7G>A 374345970 MedGen:CN169374 16 3757281 3757281 C T 192376 single nucleotide variant NM_004380.2(CREBBP):c.224G>A (p.Arg75Gln) 794727273 MedGen:CN169374 16 3900872 3900872 C T 192376 single nucleotide variant NM_004380.2(CREBBP):c.224G>A (p.Arg75Gln) 794727273 MedGen:CN169374 16 3850871 3850871 C T 192377 single nucleotide variant NM_004380.2(CREBBP):c.711C>T (p.Ser237=) 146049063 MedGen:CN169374 16 3900385 3900385 G A 192377 single nucleotide variant NM_004380.2(CREBBP):c.711C>T (p.Ser237=) 146049063 MedGen:CN169374 16 3850384 3850384 G A 192378 single nucleotide variant NM_004380.2(CREBBP):c.586A>G (p.Ser196Gly) 794727274 MedGen:CN169374 16 3900510 3900510 T C 192378 single nucleotide variant NM_004380.2(CREBBP):c.586A>G (p.Ser196Gly) 794727274 MedGen:CN169374 16 3850509 3850509 T C 192379 single nucleotide variant NM_004380.2(CREBBP):c.712G>C (p.Val238Leu) 146887252 MedGen:CN169374 16 3900384 3900384 C G 192379 single nucleotide variant NM_004380.2(CREBBP):c.712G>C (p.Val238Leu) 146887252 MedGen:CN169374 16 3850383 3850383 C G 192980 single nucleotide variant NM_004380.2(CREBBP):c.4133+4A>G 372126168 MedGen:CN169374 16 3790396 3790396 T C 192980 single nucleotide variant NM_004380.2(CREBBP):c.4133+4A>G 372126168 MedGen:CN169374 16 3740395 3740395 T C 192981 deletion NM_004380.2(CREBBP):c.3993delC (p.Thr1332Glnfs) 794727391 MedGen:C0035934,OMIM:180849,Orphanet:ORPHA353277,SNOMED CT:C0035934 16 3740539 3740539 G - 192981 deletion NM_004380.2(CREBBP):c.3993delC (p.Thr1332Glnfs) 794727391 MedGen:C0035934,OMIM:180849,Orphanet:ORPHA353277,SNOMED CT:C0035934 16 3790540 3790540 G - 193041 single nucleotide variant NM_004380.2(CREBBP):c.4279A>G (p.Arg1427Gly) 794727401 MedGen:CN169374 16 3789580 3789580 T C 193041 single nucleotide variant NM_004380.2(CREBBP):c.4279A>G (p.Arg1427Gly) 794727401 MedGen:CN169374 16 3739579 3739579 T C 193042 single nucleotide variant NM_004380.2(CREBBP):c.4266C>A (p.Pro1422=) 794727402 MedGen:CN169374 16 3789593 3789593 G T 193042 single nucleotide variant NM_004380.2(CREBBP):c.4266C>A (p.Pro1422=) 794727402 MedGen:CN169374 16 3739592 3739592 G T 193132 single nucleotide variant NM_004380.2(CREBBP):c.4350C>T (p.Tyr1450=) 144832179 MedGen:CN169374 16 3788604 3788604 G A 193132 single nucleotide variant NM_004380.2(CREBBP):c.4350C>T (p.Tyr1450=) 144832179 MedGen:CN169374 16 3738603 3738603 G A 193186 single nucleotide variant NM_004380.2(CREBBP):c.4494A>G (p.Arg1498=) 149560660 MedGen:CN169374 16 3786717 3786717 T C 193186 single nucleotide variant NM_004380.2(CREBBP):c.4494A>G (p.Arg1498=) 149560660 MedGen:CN169374 16 3736716 3736716 T C 193338 single nucleotide variant NM_004380.2(CREBBP):c.4729-14G>A 130008 MedGen:CN169374 16 3781952 3781952 C T 193338 single nucleotide variant NM_004380.2(CREBBP):c.4729-14G>A 130008 MedGen:CN169374 16 3731951 3731951 C T 193788 single nucleotide variant NM_004380.2(CREBBP):c.5168G>A (p.Cys1723Tyr) 794727535 MedGen:CN169374 16 3781197 3781197 C T 193788 single nucleotide variant NM_004380.2(CREBBP):c.5168G>A (p.Cys1723Tyr) 794727535 MedGen:CN169374 16 3731196 3731196 C T 193789 single nucleotide variant NM_004380.2(CREBBP):c.5115C>T (p.Tyr1705=) 200287696 MedGen:CN169374 16 3781250 3781250 G A 193789 single nucleotide variant NM_004380.2(CREBBP):c.5115C>T (p.Tyr1705=) 200287696 MedGen:CN169374 16 3731249 3731249 G A 193857 single nucleotide variant NM_004380.2(CREBBP):c.6746G>A (p.Arg2249His) 794727551 MedGen:CN169374 16 3778302 3778302 C T 193857 single nucleotide variant NM_004380.2(CREBBP):c.6746G>A (p.Arg2249His) 794727551 MedGen:CN169374 16 3728301 3728301 C T 193858 single nucleotide variant NM_004380.2(CREBBP):c.5517C>T (p.Pro1839=) 760307939 MedGen:CN169374 16 3779531 3779531 G A 193858 single nucleotide variant NM_004380.2(CREBBP):c.5517C>T (p.Pro1839=) 760307939 MedGen:CN169374 16 3729530 3729530 G A 193859 deletion NM_004380.2(CREBBP):c.5969_5977delCCCCGGGGA (p.Thr1990_Gly1992del) 777318563 MedGen:CN169374 16 3779071 3779079 TCCCCGGGG - 193859 deletion NM_004380.2(CREBBP):c.5969_5977delCCCCGGGGA (p.Thr1990_Gly1992del) 777318563 MedGen:CN169374 16 3729070 3729078 TCCCCGGGG - 193860 single nucleotide variant NM_004380.2(CREBBP):c.5843C>T (p.Pro1948Leu) 557611780 MedGen:CN169374 16 3779205 3779205 G A 193860 single nucleotide variant NM_004380.2(CREBBP):c.5843C>T (p.Pro1948Leu) 557611780 MedGen:CN169374 16 3729204 3729204 G A 193861 single nucleotide variant NM_004380.2(CREBBP):c.6452G>C (p.Arg2151Pro) 749783719 MedGen:CN169374 16 3778596 3778596 C G 193861 single nucleotide variant NM_004380.2(CREBBP):c.6452G>C (p.Arg2151Pro) 749783719 MedGen:CN169374 16 3728595 3728595 C G 194924 single nucleotide variant NM_004380.2(CREBBP):c.1275T>C (p.His425=) 758886547 MedGen:CN169374 16 3842037 3842037 A G 194924 single nucleotide variant NM_004380.2(CREBBP):c.1275T>C (p.His425=) 758886547 MedGen:CN169374 16 3792036 3792036 A G 195330 deletion NM_004380.2(CREBBP):c.1331-12_1331-9delTTGT 765955245 MedGen:CN169374 16 3832936 3832939 ACAA - 195330 deletion NM_004380.2(CREBBP):c.1331-12_1331-9delTTGT 765955245 MedGen:CN169374 16 3782935 3782938 ACAA - 205291 single nucleotide variant NM_004380.2(CREBBP):c.4409A>G (p.His1470Arg) 797044860 MeSH:D030342,MedGen:C0950123 16 3786802 3786802 T C 205291 single nucleotide variant NM_004380.2(CREBBP):c.4409A>G (p.His1470Arg) 797044860 MeSH:D030342,MedGen:C0950123 16 3736801 3736801 T C 205780 single nucleotide variant NM_004380.2(CREBBP):c.5614A>G (p.Met1872Val) 797045037 MedGen:C0035934,OMIM:180849,Orphanet:ORPHA353277,SNOMED CT:C0035934 16 3779434 3779434 T C 205780 single nucleotide variant NM_004380.2(CREBBP):c.5614A>G (p.Met1872Val) 797045037 MedGen:C0035934,OMIM:180849,Orphanet:ORPHA353277,SNOMED CT:C0035934 16 3729433 3729433 T C 208240 deletion NM_004380.2(CREBBP):c.(?_-23)_85+?del -1 MedGen:C0035934,OMIM:180849,Orphanet:ORPHA353277,SNOMED CT:C0035934 16 3929833 3929940 na na 208240 deletion NM_004380.2(CREBBP):c.(?_-23)_85+?del -1 MedGen:C0035934,OMIM:180849,Orphanet:ORPHA353277,SNOMED CT:C0035934 16 3879832 3879939 na na 208258 duplication NM_004380.2(CREBBP):c.6618_6620dupGCA (p.Gln2216_Gly2217insGln) 779647460 MedGen:CN169374 16 3728427 3728429 TGC TGCTGC 208258 duplication NM_004380.2(CREBBP):c.6618_6620dupGCA (p.Gln2216_Gly2217insGln) 779647460 MedGen:CN169374 16 3778428 3778430 TGC TGCTGC 208259 duplication NM_004380.2(CREBBP):c.6395_6417dup23 (p.Gln2140Alafs) 797045500 MedGen:C0035934,OMIM:180849,Orphanet:ORPHA353277,SNOMED CT:C0035934 16 3728630 3728652 na na 208259 duplication NM_004380.2(CREBBP):c.6395_6417dup23 (p.Gln2140Alafs) 797045500 MedGen:C0035934,OMIM:180849,Orphanet:ORPHA353277,SNOMED CT:C0035934 16 3778631 3778653 na na 208260 deletion NM_004380.2(CREBBP):c.6107_6116delCCAGGCCTGT (p.Pro2036Argfs) 797045499 MedGen:C0035934,OMIM:180849,Orphanet:ORPHA353277,SNOMED CT:C0035934 16 3728931 3728940 ACAGGCCTGG - 208260 deletion NM_004380.2(CREBBP):c.6107_6116delCCAGGCCTGT (p.Pro2036Argfs) 797045499 MedGen:C0035934,OMIM:180849,Orphanet:ORPHA353277,SNOMED CT:C0035934 16 3778932 3778941 ACAGGCCTGG - 208261 insertion NM_004380.2(CREBBP):c.5936_5937insT (p.Ser1980Glnfs) 797045498 MedGen:C0035934,OMIM:180849,Orphanet:ORPHA353277,SNOMED CT:C0035934 16 3729110 3729111 - A 208261 insertion NM_004380.2(CREBBP):c.5936_5937insT (p.Ser1980Glnfs) 797045498 MedGen:C0035934,OMIM:180849,Orphanet:ORPHA353277,SNOMED CT:C0035934 16 3779111 3779112 - A 208262 duplication NM_004380.2(CREBBP):c.5837dupC (p.Pro1947Thrfs) 797045497 MedGen:C0035934,OMIM:180849,Orphanet:ORPHA353277,SNOMED CT:C0035934 16 3729210 3729210 G GG 208262 duplication NM_004380.2(CREBBP):c.5837dupC (p.Pro1947Thrfs) 797045497 MedGen:C0035934,OMIM:180849,Orphanet:ORPHA353277,SNOMED CT:C0035934 16 3779211 3779211 G GG 208263 single nucleotide variant NM_004380.2(CREBBP):c.5412C>A (p.His1804Gln) 797045496 MedGen:C0035934,OMIM:180849,Orphanet:ORPHA353277,SNOMED CT:C0035934 16 3729635 3729635 G T 208263 single nucleotide variant NM_004380.2(CREBBP):c.5412C>A (p.His1804Gln) 797045496 MedGen:C0035934,OMIM:180849,Orphanet:ORPHA353277,SNOMED CT:C0035934 16 3779636 3779636 G T 208264 single nucleotide variant NM_004380.2(CREBBP):c.5027G>A (p.Trp1676Ter) 797045495 MedGen:C0035934,OMIM:180849,Orphanet:ORPHA353277,SNOMED CT:C0035934 16 3731337 3731337 C T 208264 single nucleotide variant NM_004380.2(CREBBP):c.5027G>A (p.Trp1676Ter) 797045495 MedGen:C0035934,OMIM:180849,Orphanet:ORPHA353277,SNOMED CT:C0035934 16 3781338 3781338 C T 208265 single nucleotide variant NM_004380.2(CREBBP):c.4281G>T (p.Arg1427Ser) 797045494 MedGen:C0035934,OMIM:180849,Orphanet:ORPHA353277,SNOMED CT:C0035934 16 3738672 3738672 C A 208265 single nucleotide variant NM_004380.2(CREBBP):c.4281G>T (p.Arg1427Ser) 797045494 MedGen:C0035934,OMIM:180849,Orphanet:ORPHA353277,SNOMED CT:C0035934 16 3788673 3788673 C A 208266 single nucleotide variant NM_004380.2(CREBBP):c.4267C>T (p.Pro1423Ser) 797045493 MedGen:CN169374 16 3739591 3739591 G A 208266 single nucleotide variant NM_004380.2(CREBBP):c.4267C>T (p.Pro1423Ser) 797045493 MedGen:CN169374 16 3789592 3789592 G A 208267 single nucleotide variant NM_004380.2(CREBBP):c.3490G>C (p.Ala1164Pro) 797045492 MedGen:C0035934,OMIM:180849,Orphanet:ORPHA353277,SNOMED CT:C0035934 16 3757928 3757928 C G 208267 single nucleotide variant NM_004380.2(CREBBP):c.3490G>C (p.Ala1164Pro) 797045492 MedGen:C0035934,OMIM:180849,Orphanet:ORPHA353277,SNOMED CT:C0035934 16 3807929 3807929 C G 208268 duplication NM_004380.2(CREBBP):c.3461dupT (p.Asp1155Glyfs) 797045490 MedGen:C0035934,OMIM:180849,Orphanet:ORPHA353277,SNOMED CT:C0035934 16 3757957 3757957 A AA 208268 duplication NM_004380.2(CREBBP):c.3461dupT (p.Asp1155Glyfs) 797045490 MedGen:C0035934,OMIM:180849,Orphanet:ORPHA353277,SNOMED CT:C0035934 16 3807958 3807958 A AA 208269 single nucleotide variant NM_004380.2(CREBBP):c.3436C>T (p.Gln1146Ter) 797045489 MedGen:C0035934,OMIM:180849,Orphanet:ORPHA353277,SNOMED CT:C0035934 16 3807983 3807983 G A 208269 single nucleotide variant NM_004380.2(CREBBP):c.3436C>T (p.Gln1146Ter) 797045489 MedGen:C0035934,OMIM:180849,Orphanet:ORPHA353277,SNOMED CT:C0035934 16 3757982 3757982 G A 208270 indel NM_004380.2(CREBBP):c.3077_3085delTGCAAGGAGinsAA (p.Leu1026Terfs) 797045488 MedGen:C0035934,OMIM:180849,Orphanet:ORPHA353277,SNOMED CT:C0035934 16 3817886 3817894 CTCCTTGCA TT 208270 indel NM_004380.2(CREBBP):c.3077_3085delTGCAAGGAGinsAA (p.Leu1026Terfs) 797045488 MedGen:C0035934,OMIM:180849,Orphanet:ORPHA353277,SNOMED CT:C0035934 16 3767885 3767893 CTCCTTGCA TT 208271 duplication NM_004380.2(CREBBP):c.2810dupC (p.Ser938Valfs) 797045485 MedGen:C0035934,OMIM:180849,Orphanet:ORPHA353277,SNOMED CT:C0035934 16 3820641 3820641 G GG 208271 duplication NM_004380.2(CREBBP):c.2810dupC (p.Ser938Valfs) 797045485 MedGen:C0035934,OMIM:180849,Orphanet:ORPHA353277,SNOMED CT:C0035934 16 3770640 3770640 G GG 208272 indel NM_004380.2(CREBBP):c.2679_2690delGTCTTCCGGGCAinsCC (p.Ser894Argfs) 797045484 MedGen:C0035934,OMIM:180849,Orphanet:ORPHA353277,SNOMED CT:C0035934 16 3770760 3770771 TGCCCGGAAGAC GG 208272 indel NM_004380.2(CREBBP):c.2679_2690delGTCTTCCGGGCAinsCC (p.Ser894Argfs) 797045484 MedGen:C0035934,OMIM:180849,Orphanet:ORPHA353277,SNOMED CT:C0035934 16 3820761 3820772 TGCCCGGAAGAC GG 208273 duplication NM_004380.2(CREBBP):c.2178dupC (p.Met727Hisfs) 797045483 MedGen:C0035934,OMIM:180849,Orphanet:ORPHA353277,SNOMED CT:C0035934 16 3774674 3774674 G GG 208273 duplication NM_004380.2(CREBBP):c.2178dupC (p.Met727Hisfs) 797045483 MedGen:C0035934,OMIM:180849,Orphanet:ORPHA353277,SNOMED CT:C0035934 16 3824675 3824675 G GG 208274 single nucleotide variant NM_004380.2(CREBBP):c.1331-4A>G 756291909 MedGen:CN169374 16 3832931 3832931 T C 208274 single nucleotide variant NM_004380.2(CREBBP):c.1331-4A>G 756291909 MedGen:CN169374 16 3782930 3782930 T C 208275 single nucleotide variant NM_004380.2(CREBBP):c.1331-12T>C 779542354 MedGen:CN169374 16 3782938 3782938 A G 208275 single nucleotide variant NM_004380.2(CREBBP):c.1331-12T>C 779542354 MedGen:CN169374 16 3832939 3832939 A G 208276 duplication NM_004380.2(CREBBP):c.827_828dupTT (p.Gly277Leufs) 797045502 MedGen:C0035934,OMIM:180849,Orphanet:ORPHA353277,SNOMED CT:C0035934 16 3810750 3810751 AA AAAA 208276 duplication NM_004380.2(CREBBP):c.827_828dupTT (p.Gly277Leufs) 797045502 MedGen:C0035934,OMIM:180849,Orphanet:ORPHA353277,SNOMED CT:C0035934 16 3860751 3860752 AA AAAA 208277 duplication NM_004380.2(CREBBP):c.348_349dupTG (p.Ala117Valfs) 797045491 MedGen:C0035934,OMIM:180849,Orphanet:ORPHA353277,SNOMED CT:C0035934 16 3850746 3850747 CA CACA 208277 duplication NM_004380.2(CREBBP):c.348_349dupTG (p.Ala117Valfs) 797045491 MedGen:C0035934,OMIM:180849,Orphanet:ORPHA353277,SNOMED CT:C0035934 16 3900747 3900748 CA CACA 208278 duplication NM_004380.2(CREBBP):c.282dupC (p.Val95Argfs) 797045486 MedGen:C0035934,OMIM:180849,Orphanet:ORPHA353277,SNOMED CT:C0035934 16 3900814 3900814 G GG 208278 duplication NM_004380.2(CREBBP):c.282dupC (p.Val95Argfs) 797045486 MedGen:C0035934,OMIM:180849,Orphanet:ORPHA353277,SNOMED CT:C0035934 16 3850813 3850813 G GG 208279 single nucleotide variant NM_004380.2(CREBBP):c.86-1G>T 11644721 MedGen:C0035934,OMIM:180849,Orphanet:ORPHA353277,SNOMED CT:C0035934 16 3851010 3851010 C A 208279 single nucleotide variant NM_004380.2(CREBBP):c.86-1G>T 11644721 MedGen:C0035934,OMIM:180849,Orphanet:ORPHA353277,SNOMED CT:C0035934 16 3901011 3901011 C A 208280 single nucleotide variant NM_004380.2(CREBBP):c.71C>T (p.Ala24Val) 797045501 MedGen:CN169374 16 3929847 3929847 G A 208280 single nucleotide variant NM_004380.2(CREBBP):c.71C>T (p.Ala24Val) 797045501 MedGen:CN169374 16 3879846 3879846 G A 208281 single nucleotide variant NM_004380.2(CREBBP):c.2T>A (p.Met1Lys) 797045487 MedGen:C0035934,OMIM:180849,Orphanet:ORPHA353277,SNOMED CT:C0035934 16 3879915 3879915 A T 208281 single nucleotide variant NM_004380.2(CREBBP):c.2T>A (p.Met1Lys) 797045487 MedGen:C0035934,OMIM:180849,Orphanet:ORPHA353277,SNOMED CT:C0035934 16 3929916 3929916 A T 215516 deletion NM_004380.2(CREBBP):c.3370-4delT 75459669 MedGen:CN169374 16 3808053 3808053 A - 215516 deletion NM_004380.2(CREBBP):c.3370-4delT 75459669 MedGen:CN169374 16 3758052 3758052 A - 225888 single nucleotide variant NM_004380.2(CREBBP):c.5237G>T (p.Gly1746Val) 869312714 MedGen:C0035934,OMIM:180849,Orphanet:ORPHA353277,SNOMED CT:C0035934 16 3729810 3729810 C A 225888 single nucleotide variant NM_004380.2(CREBBP):c.5237G>T (p.Gly1746Val) 869312714 MedGen:C0035934,OMIM:180849,Orphanet:ORPHA353277,SNOMED CT:C0035934 16 3779811 3779811 C A 247119 single nucleotide variant NM_004380.2(CREBBP):c.5615T>C (p.Met1872Thr) 879255381 MedGen:CN169374 16 3779433 3779433 A G 247119 single nucleotide variant NM_004380.2(CREBBP):c.5615T>C (p.Met1872Thr) 879255381 MedGen:CN169374 16 3729432 3729432 A G 255739 single nucleotide variant NM_004380.2(CREBBP):c.4133+19T>C 202204380 MedGen:CN169374 16 3790381 3790381 A G 255739 single nucleotide variant NM_004380.2(CREBBP):c.4133+19T>C 202204380 MedGen:CN169374 16 3740380 3740380 A G 255740 single nucleotide variant NM_004380.2(CREBBP):c.1216+20C>A 200567815 MedGen:CN169374 16 3843367 3843367 G T 255740 single nucleotide variant NM_004380.2(CREBBP):c.1216+20C>A 200567815 MedGen:CN169374 16 3793366 3793366 G T 260115 single nucleotide variant NM_004380.2(CREBBP):c.6010C>T (p.Arg2004Ter) 886039331 MedGen:CN221809 16 3779038 3779038 G A 260115 single nucleotide variant NM_004380.2(CREBBP):c.6010C>T (p.Arg2004Ter) 886039331 MedGen:CN221809 16 3729037 3729037 G A 260116 single nucleotide variant NM_004380.2(CREBBP):c.5602C>T (p.Arg1868Trp) 886039491 MedGen:CN221809 16 3779446 3779446 G A 260116 single nucleotide variant NM_004380.2(CREBBP):c.5602C>T (p.Arg1868Trp) 886039491 MedGen:CN221809 16 3729445 3729445 G A 263005 single nucleotide variant NM_004380.2(CREBBP):c.3190G>A (p.Glu1064Lys) 886041006 MedGen:C0035934,OMIM:180849,Orphanet:ORPHA353277,SNOMED CT:C0035934 16 3817781 3817781 C T 263005 single nucleotide variant NM_004380.2(CREBBP):c.3190G>A (p.Glu1064Lys) 886041006 MedGen:C0035934,OMIM:180849,Orphanet:ORPHA353277,SNOMED CT:C0035934 16 3767780 3767780 C T 263759 single nucleotide variant NM_004380.2(CREBBP):c.4134-1G>T 886041048 MedGen:C0035934,OMIM:180849,Orphanet:ORPHA353277,SNOMED CT:C0035934 16 3739725 3739725 C A 263759 single nucleotide variant NM_004380.2(CREBBP):c.4134-1G>T 886041048 MedGen:C0035934,OMIM:180849,Orphanet:ORPHA353277,SNOMED CT:C0035934 16 3789726 3789726 C A 264634 single nucleotide variant NM_004380.2(CREBBP):c.4439A>G (p.Asp1480Gly) 886041286 MedGen:CN221809 16 3786772 3786772 T C 264634 single nucleotide variant NM_004380.2(CREBBP):c.4439A>G (p.Asp1480Gly) 886041286 MedGen:CN221809 16 3736771 3736771 T C 264789 single nucleotide variant NM_004380.2(CREBBP):c.6241C>T (p.Gln2081Ter) 886041518 MedGen:CN221809 16 3778807 3778807 G A 264789 single nucleotide variant NM_004380.2(CREBBP):c.6241C>T (p.Gln2081Ter) 886041518 MedGen:CN221809 16 3728806 3728806 G A 264791 single nucleotide variant NM_004380.2(CREBBP):c.3609+1G>A 886041879 MedGen:CN221809 16 3807809 3807809 C T 264791 single nucleotide variant NM_004380.2(CREBBP):c.3609+1G>A 886041879 MedGen:CN221809 16 3757808 3757808 C T 264810 duplication NM_004380.2(CREBBP):c.2841dupA (p.Gln948Thrfs) 886041468 MedGen:CN221809 16 3820610 3820610 T TT 264810 duplication NM_004380.2(CREBBP):c.2841dupA (p.Gln948Thrfs) 886041468 MedGen:CN221809 16 3770609 3770609 T TT 265764 deletion NM_004380.2(CREBBP):c.6612_6623delGCAGCAGCAACA (p.Gln2213_Gln2216del) 778678603 MedGen:CN169374 16 3728424 3728435 TGTTGCTGCTGC - 265764 deletion NM_004380.2(CREBBP):c.6612_6623delGCAGCAGCAACA (p.Gln2213_Gln2216del) 778678603 MedGen:CN169374 16 3778425 3778436 TGTTGCTGCTGC - 265916 deletion NM_004380.2(CREBBP):c.6666_6677delTGGGGGCATGGC (p.Gly2224_Gly2227del) 778220523 MedGen:CN169374 16 3778371 3778382 GCCATGCCCCCA - 265916 deletion NM_004380.2(CREBBP):c.6666_6677delTGGGGGCATGGC (p.Gly2224_Gly2227del) 778220523 MedGen:CN169374 16 3728370 3728381 GCCATGCCCCCA - 266112 single nucleotide variant NM_004380.2(CREBBP):c.4421G>A (p.Cys1474Tyr) 886042251 MedGen:CN169374 16 3786790 3786790 C T 266112 single nucleotide variant NM_004380.2(CREBBP):c.4421G>A (p.Cys1474Tyr) 886042251 MedGen:CN169374 16 3736789 3736789 C T 266150 single nucleotide variant NM_004380.2(CREBBP):c.5934C>T (p.Asn1978=) 754282387 MedGen:CN169374 16 3779114 3779114 G A 266150 single nucleotide variant NM_004380.2(CREBBP):c.5934C>T (p.Asn1978=) 754282387 MedGen:CN169374 16 3729113 3729113 G A 266796 single nucleotide variant NM_004380.2(CREBBP):c.4628A>G (p.Asp1543Gly) 886042424 MedGen:CN169374 16 3786137 3786137 T C 266796 single nucleotide variant NM_004380.2(CREBBP):c.4628A>G (p.Asp1543Gly) 886042424 MedGen:CN169374 16 3736136 3736136 T C 266824 single nucleotide variant NM_004380.2(CREBBP):c.5747T>C (p.Met1916Thr) 559294915 MedGen:CN169374 16 3779301 3779301 A G 266824 single nucleotide variant NM_004380.2(CREBBP):c.5747T>C (p.Met1916Thr) 559294915 MedGen:CN169374 16 3729300 3729300 A G 266827 single nucleotide variant NM_004380.2(CREBBP):c.2028A>G (p.Gln676=) 886042429 MedGen:CN169374 16 3828097 3828097 T C 266827 single nucleotide variant NM_004380.2(CREBBP):c.2028A>G (p.Gln676=) 886042429 MedGen:CN169374 16 3778096 3778096 T C 266831 single nucleotide variant NM_004380.2(CREBBP):c.2977C>T (p.Pro993Ser) 886042430 MedGen:CN169374 16 3819258 3819258 G A 266831 single nucleotide variant NM_004380.2(CREBBP):c.2977C>T (p.Pro993Ser) 886042430 MedGen:CN169374 16 3769257 3769257 G A 267753 single nucleotide variant NM_004380.2(CREBBP):c.6678G>A (p.Ala2226=) 750845399 MedGen:CN169374 16 3778370 3778370 C T 267753 single nucleotide variant NM_004380.2(CREBBP):c.6678G>A (p.Ala2226=) 750845399 MedGen:CN169374 16 3728369 3728369 C T 268554 single nucleotide variant NM_004380.2(CREBBP):c.423T>G (p.Ser141=) 760605470 MedGen:CN169374 16 3900673 3900673 A C 268554 single nucleotide variant NM_004380.2(CREBBP):c.423T>G (p.Ser141=) 760605470 MedGen:CN169374 16 3850672 3850672 A C 269254 single nucleotide variant NM_004380.2(CREBBP):c.833A>C (p.Gln278Pro) 577305576 MedGen:CN169374 16 3860746 3860746 T G 269254 single nucleotide variant NM_004380.2(CREBBP):c.833A>C (p.Gln278Pro) 577305576 MedGen:CN169374 16 3810745 3810745 T G 269320 single nucleotide variant NM_004380.2(CREBBP):c.5597G>A (p.Arg1866His) 886043017 MedGen:CN169374 16 3779451 3779451 C T 269320 single nucleotide variant NM_004380.2(CREBBP):c.5597G>A (p.Arg1866His) 886043017 MedGen:CN169374 16 3729450 3729450 C T 271190 single nucleotide variant NM_004380.2(CREBBP):c.5334G>A (p.Ser1778=) 201062642 MedGen:CN169374 16 3779714 3779714 C T 271190 single nucleotide variant NM_004380.2(CREBBP):c.5334G>A (p.Ser1778=) 201062642 MedGen:CN169374 16 3729713 3729713 C T 272980 single nucleotide variant NM_004380.2(CREBBP):c.5670C>T (p.Pro1890=) 115594471 MedGen:CN169374 16 3779378 3779378 G A 272980 single nucleotide variant NM_004380.2(CREBBP):c.5670C>T (p.Pro1890=) 115594471 MedGen:CN169374 16 3729377 3729377 G A 273296 deletion NM_004380.2(CREBBP):c.2355_2366delCCAGGCGCCCGC (p.Ala787_Gln790del) 755265819 MedGen:CN169374 16 3823849 3823860 GCGGGCGCCTGG - 273296 deletion NM_004380.2(CREBBP):c.2355_2366delCCAGGCGCCCGC (p.Ala787_Gln790del) 755265819 MedGen:CN169374 16 3773848 3773859 GCGGGCGCCTGG - 360247 single nucleotide variant NM_004380.2(CREBBP):c.1100G>T (p.Cys367Phe) 1057518498 MedGen:CN221809 16 3793502 3793502 C A 360247 single nucleotide variant NM_004380.2(CREBBP):c.1100G>T (p.Cys367Phe) 1057518498 MedGen:CN221809 16 3843503 3843503 C A 360998 single nucleotide variant NM_004380.2(CREBBP):c.6244C>T (p.Gln2082Ter) 1057518789 Human Phenotype Ontology:HP:0001263,MedGen:CN001157;Human Phenotype Ontology:HP:0002650,MedGen:CN002409 16 3728803 3728803 G A 360998 single nucleotide variant NM_004380.2(CREBBP):c.6244C>T (p.Gln2082Ter) 1057518789 Human Phenotype Ontology:HP:0001263,MedGen:CN001157;Human Phenotype Ontology:HP:0002650,MedGen:CN002409 16 3778804 3778804 G A 360999 single nucleotide variant NM_004380.2(CREBBP):c.3698G>A (p.Arg1233Lys) 1057518844 Human Phenotype Ontology:HP:0001172,MedGen:CN130237;Human Phenotype Ontology:HP:0000501,MedGen:C1962986 16 3757288 3757288 C T 360999 single nucleotide variant NM_004380.2(CREBBP):c.3698G>A (p.Arg1233Lys) 1057518844 Human Phenotype Ontology:HP:0001172,MedGen:CN130237;Human Phenotype Ontology:HP:0000501,MedGen:C1962986 16 3807289 3807289 C T 361586 single nucleotide variant NM_004380.2(CREBBP):c.4459C>T (p.His1487Tyr) -1 MedGen:CN221809 16 3736751 3736751 G A 361586 single nucleotide variant NM_004380.2(CREBBP):c.4459C>T (p.His1487Tyr) -1 MedGen:CN221809 16 3786752 3786752 G A

Disease associated variation - GWASdb Chr Pos SNP ID(dbSNP 142) Ref Alt Ori SNP ID P-value Drug Name Drug Anno GWAS Trait HPO ID DO ID AA Type Trait or Drug 16 3832471 rs130021 A G rs130021 2.00E-04 TOPIRAMATE|FRUCTOSE ANTICONVULSANTS Cognitive impairment induced by topiramate HPOID:0100543 DOID:1561 A intron GWASdb_drug 16 3778337 rs3751845 G A rs3751845 9.00E-06 Obesity-related traits HPOID:0001513 DOID:9970 G cds-synon GWASdb_trait 16 3796147 rs129963 T C rs129963 9.00E-06 QT interval (interaction) HPOID:0001657|HPOID:0012232 DOID:10273|DOID:2843 G intron GWASdb_trait 16 3832471 rs130021 A G rs130021 7.43E-04 Multiple complex diseases HPOID:0000118 NA A intron GWASdb_trait 16 3832471 rs130021 A G rs130021 2.00E-04 Cognitive impairment induced by topiramate HPOID:0100543 DOID:1561 A intron GWASdb_trait 16 3839535 rs3789033 T C rs3789033 2.48E-05 Cognitive test performance HPOID:0100543 DOID:1561 T intron GWASdb_trait 16 3913995 rs2239316 A G rs2239316 8.94E-05 Cognitive test performance HPOID:0100543 DOID:1561 G intron GWASdb_trait

Disease associated variation - OMIM Ensembl_gene_ID Approved Gene Symbol MIM Number ENSG00000005339.14 CREBBP 600140