Disease associated variation - ClinVar Allele ID Type Name RS#dbSNP Phenotype IDs Chromosome Start Stop Reference Alternate 21919 single nucleotide variant NM_001429.3(EP300):c.1738C>T (p.Arg580Ter) 137853038 MedGen:C0699790,OMIM:114500,SNOMED CT:C0699790 22 41533772 41533772 C T 21919 single nucleotide variant NM_001429.3(EP300):c.1738C>T (p.Arg580Ter) 137853038 MedGen:C0699790,OMIM:114500,SNOMED CT:C0699790 22 41137768 41137768 C T 21920 single nucleotide variant NM_001429.3(EP300):c.6662C>A (p.Pro2221Gln) 28937578 MedGen:C0699790,OMIM:114500,SNOMED CT:C0699790 22 41574377 41574377 C A 21920 single nucleotide variant NM_001429.3(EP300):c.6662C>A (p.Pro2221Gln) 28937578 MedGen:C0699790,OMIM:114500,SNOMED CT:C0699790 22 41178373 41178373 C A 21921 single nucleotide variant NM_001429.3(EP300):c.1942C>T (p.Arg648Ter) 137853039 MedGen:C3150941,OMIM:613684,Orphanet:ORPHA353284 22 41537115 41537115 C T 21921 single nucleotide variant NM_001429.3(EP300):c.1942C>T (p.Arg648Ter) 137853039 MedGen:C3150941,OMIM:613684,Orphanet:ORPHA353284 22 41141111 41141111 C T 21922 deletion EP300, 8-BP DEL, NT2877 -1 MedGen:C3150941,OMIM:613684,Orphanet:ORPHA353284 na -1 -1 na na 21923 deletion EP300, EX1DEL -1 MedGen:C3150941,OMIM:613684,Orphanet:ORPHA353284 na -1 -1 na na 21924 deletion EP300, 1-BP DEL, 7100C -1 MedGen:C3150941,OMIM:613684,Orphanet:ORPHA353284 na -1 -1 na na 21925 deletion EP300, EX3-8DEL -1 MedGen:C3150941,OMIM:613684,Orphanet:ORPHA353284 na -1 -1 na na 39232 deletion EP300, 1-BP DEL, 638G -1 MedGen:C3150941,OMIM:613684,Orphanet:ORPHA353284 na -1 -1 na na 99635 single nucleotide variant NM_001429.3(EP300):c.2053+8G>T 6002267 MedGen:C0035934,OMIM:180849,Orphanet:ORPHA353277,SNOMED CT:C0035934;MedGen:CN169374 22 41537234 41537234 G T 99635 single nucleotide variant NM_001429.3(EP300):c.2053+8G>T 6002267 MedGen:C0035934,OMIM:180849,Orphanet:ORPHA353277,SNOMED CT:C0035934;MedGen:CN169374 22 41141230 41141230 G T 99636 single nucleotide variant NM_001429.3(EP300):c.2131+18T>A 9611506 MedGen:CN169374 22 41542838 41542838 T A 99636 single nucleotide variant NM_001429.3(EP300):c.2131+18T>A 9611506 MedGen:CN169374 22 41146834 41146834 T A 99637 single nucleotide variant NM_001429.3(EP300):c.2419A>G (p.Ile807Val) 201054979 MedGen:CN169374 22 41545804 41545804 A G 99637 single nucleotide variant NM_001429.3(EP300):c.2419A>G (p.Ile807Val) 201054979 MedGen:CN169374 22 41149800 41149800 A G 99638 single nucleotide variant NM_001429.3(EP300):c.2499G>A (p.Ser833=) 35560602 MedGen:C0035934,OMIM:180849,Orphanet:ORPHA353277,SNOMED CT:C0035934;MedGen:CN169374 22 41545884 41545884 G A 99638 single nucleotide variant NM_001429.3(EP300):c.2499G>A (p.Ser833=) 35560602 MedGen:C0035934,OMIM:180849,Orphanet:ORPHA353277,SNOMED CT:C0035934;MedGen:CN169374 22 41149880 41149880 G A 99639 single nucleotide variant NM_001429.3(EP300):c.2989A>G (p.Ile997Val) 20551 MedGen:C0035934,OMIM:180849,Orphanet:ORPHA353277,SNOMED CT:C0035934;MedGen:CN169374 22 41548008 41548008 A G 99639 single nucleotide variant NM_001429.3(EP300):c.2989A>G (p.Ile997Val) 20551 MedGen:C0035934,OMIM:180849,Orphanet:ORPHA353277,SNOMED CT:C0035934;MedGen:CN169374 22 41152004 41152004 A G 99640 single nucleotide variant NM_001429.3(EP300):c.3063T>C (p.Thr1021=) 142431552 MedGen:CN169374 22 41548275 41548275 T C 99640 single nucleotide variant NM_001429.3(EP300):c.3063T>C (p.Thr1021=) 142431552 MedGen:CN169374 22 41152271 41152271 T C 99641 single nucleotide variant NM_001429.3(EP300):c.3183T>A (p.Thr1061=) 20552 MedGen:C0035934,OMIM:180849,Orphanet:ORPHA353277,SNOMED CT:C0035934;MedGen:CN169374 22 41551039 41551039 T A 99641 single nucleotide variant NM_001429.3(EP300):c.3183T>A (p.Thr1061=) 20552 MedGen:C0035934,OMIM:180849,Orphanet:ORPHA353277,SNOMED CT:C0035934;MedGen:CN169374 22 41155035 41155035 T A 99642 single nucleotide variant NM_001429.3(EP300):c.3354C>T (p.Val1118=) 11704815 MedGen:C0035934,OMIM:180849,Orphanet:ORPHA353277,SNOMED CT:C0035934;MedGen:CN169374 22 41553265 41553265 C T 99642 single nucleotide variant NM_001429.3(EP300):c.3354C>T (p.Val1118=) 11704815 MedGen:C0035934,OMIM:180849,Orphanet:ORPHA353277,SNOMED CT:C0035934;MedGen:CN169374 22 41157261 41157261 C T 99643 single nucleotide variant NM_001429.3(EP300):c.4026-17C>A 2294976 MedGen:CN169374 22 41564708 41564708 C A 99643 single nucleotide variant NM_001429.3(EP300):c.4026-17C>A 2294976 MedGen:CN169374 22 41168704 41168704 C A 99644 single nucleotide variant NM_001429.3(EP300):c.4452+20C>T 6002271 MedGen:CN169374 22 41566595 41566595 C T 99644 single nucleotide variant NM_001429.3(EP300):c.4452+20C>T 6002271 MedGen:CN169374 22 41170591 41170591 C T 99645 single nucleotide variant NM_001429.3(EP300):c.4618-18C>T 2076578 MedGen:CN169374 22 41569609 41569609 C T 99645 single nucleotide variant NM_001429.3(EP300):c.4618-18C>T 2076578 MedGen:CN169374 22 41173605 41173605 C T 99646 single nucleotide variant NM_001429.3(EP300):c.5572C>G (p.Pro1858Ala) 398123610 MedGen:CN169374 22 41573287 41573287 C G 99646 single nucleotide variant NM_001429.3(EP300):c.5572C>G (p.Pro1858Ala) 398123610 MedGen:CN169374 22 41177283 41177283 C G 99647 single nucleotide variant NM_001429.3(EP300):c.6668A>C (p.Gln2223Pro) 1046088 MedGen:C0035934,OMIM:180849,Orphanet:ORPHA353277,SNOMED CT:C0035934;MedGen:CN169374 22 41574383 41574383 A C 99647 single nucleotide variant NM_001429.3(EP300):c.6668A>C (p.Gln2223Pro) 1046088 MedGen:C0035934,OMIM:180849,Orphanet:ORPHA353277,SNOMED CT:C0035934;MedGen:CN169374 22 41178379 41178379 A C 99648 deletion NM_001429.3(EP300):c.730-18_730-9delTTTGTTTCTT 61120041 MedGen:C0035934,OMIM:180849,Orphanet:ORPHA353277,SNOMED CT:C0035934;MedGen:CN169374 22 41521850 41521859 TTTGTTTCTT - 99648 deletion NM_001429.3(EP300):c.730-18_730-9delTTTGTTTCTT 61120041 MedGen:C0035934,OMIM:180849,Orphanet:ORPHA353277,SNOMED CT:C0035934;MedGen:CN169374 22 41125846 41125855 TTTGTTTCTT - 137774 single nucleotide variant NM_001429.3(EP300):c.2091T>G (p.Ser697Arg) 61756764 MedGen:C0035934,OMIM:180849,Orphanet:ORPHA353277,SNOMED CT:C0035934;MedGen:CN169374 22 41542780 41542780 T G 137774 single nucleotide variant NM_001429.3(EP300):c.2091T>G (p.Ser697Arg) 61756764 MedGen:C0035934,OMIM:180849,Orphanet:ORPHA353277,SNOMED CT:C0035934;MedGen:CN169374 22 41146776 41146776 T G 137775 single nucleotide variant NM_001429.3(EP300):c.2173A>G (p.Ile725Val) 73885743 MedGen:CN169374 22 41543882 41543882 A G 137775 single nucleotide variant NM_001429.3(EP300):c.2173A>G (p.Ile725Val) 73885743 MedGen:CN169374 22 41147878 41147878 A G 137776 duplication NM_001429.3(EP300):c.2774dupC (p.Thr926Tyrfs) 587778253 MedGen:CN169374 22 41546159 41546159 C CC 137776 duplication NM_001429.3(EP300):c.2774dupC (p.Thr926Tyrfs) 587778253 MedGen:CN169374 22 41150155 41150155 C CC 137777 single nucleotide variant NM_001429.3(EP300):c.2627A>T (p.Gln876Leu) 587778254 MedGen:CN169374 22 41546012 41546012 A T 137777 single nucleotide variant NM_001429.3(EP300):c.2627A>T (p.Gln876Leu) 587778254 MedGen:CN169374 22 41150008 41150008 A T 137778 single nucleotide variant NM_001429.3(EP300):c.2773C>A (p.Pro925Thr) 148884710 MedGen:C0035934,OMIM:180849,Orphanet:ORPHA353277,SNOMED CT:C0035934;MedGen:CN169374 22 41546158 41546158 C A 137778 single nucleotide variant NM_001429.3(EP300):c.2773C>A (p.Pro925Thr) 148884710 MedGen:C0035934,OMIM:180849,Orphanet:ORPHA353277,SNOMED CT:C0035934;MedGen:CN169374 22 41150154 41150154 C A 137779 single nucleotide variant NM_001429.3(EP300):c.2576T>C (p.Ile859Thr) 145714752 MedGen:C0035934,OMIM:180849,Orphanet:ORPHA353277,SNOMED CT:C0035934;MedGen:CN169374 22 41545961 41545961 T C 137779 single nucleotide variant NM_001429.3(EP300):c.2576T>C (p.Ile859Thr) 145714752 MedGen:C0035934,OMIM:180849,Orphanet:ORPHA353277,SNOMED CT:C0035934;MedGen:CN169374 22 41149957 41149957 T C 137780 single nucleotide variant NM_001429.3(EP300):c.316A>G (p.Ser106Gly) 150245975 MedGen:C0035934,OMIM:180849,Orphanet:ORPHA353277,SNOMED CT:C0035934;MedGen:CN169374 22 41513412 41513412 A G 137780 single nucleotide variant NM_001429.3(EP300):c.316A>G (p.Ser106Gly) 150245975 MedGen:C0035934,OMIM:180849,Orphanet:ORPHA353277,SNOMED CT:C0035934;MedGen:CN169374 22 41117408 41117408 A G 137781 single nucleotide variant NM_001429.3(EP300):c.376A>G (p.Met126Val) 200635644 MedGen:CN169374 22 41513472 41513472 A G 137781 single nucleotide variant NM_001429.3(EP300):c.376A>G (p.Met126Val) 200635644 MedGen:CN169374 22 41117468 41117468 A G 137782 single nucleotide variant NM_001429.3(EP300):c.631G>A (p.Gly211Ser) 142030651 MedGen:C0035934,OMIM:180849,Orphanet:ORPHA353277,SNOMED CT:C0035934;MedGen:CN169374 22 41513727 41513727 G A 137782 single nucleotide variant NM_001429.3(EP300):c.631G>A (p.Gly211Ser) 142030651 MedGen:C0035934,OMIM:180849,Orphanet:ORPHA353277,SNOMED CT:C0035934;MedGen:CN169374 22 41117723 41117723 G A 137783 single nucleotide variant NM_001429.3(EP300):c.3615C>G (p.Phe1205Leu) 587778255 MedGen:CN169374 22 41556670 41556670 C G 137783 single nucleotide variant NM_001429.3(EP300):c.3615C>G (p.Phe1205Leu) 587778255 MedGen:CN169374 22 41160666 41160666 C G 137784 single nucleotide variant NM_001429.3(EP300):c.752A>G (p.Asn251Ser) 142009367 MedGen:CN169374 22 41521890 41521890 A G 137784 single nucleotide variant NM_001429.3(EP300):c.752A>G (p.Asn251Ser) 142009367 MedGen:CN169374 22 41125886 41125886 A G 137785 single nucleotide variant NM_001429.3(EP300):c.865A>G (p.Met289Val) 2230111 MedGen:C0035934,OMIM:180849,Orphanet:ORPHA353277,SNOMED CT:C0035934;MedGen:CN169374 22 41522003 41522003 A G 137785 single nucleotide variant NM_001429.3(EP300):c.865A>G (p.Met289Val) 2230111 MedGen:C0035934,OMIM:180849,Orphanet:ORPHA353277,SNOMED CT:C0035934;MedGen:CN169374 22 41125999 41125999 A G 137788 single nucleotide variant NM_001429.3(EP300):c.6481A>G (p.Met2161Val) 188035979 MedGen:C0035934,OMIM:180849,Orphanet:ORPHA353277,SNOMED CT:C0035934;MedGen:CN169374 22 41574196 41574196 A G 137788 single nucleotide variant NM_001429.3(EP300):c.6481A>G (p.Met2161Val) 188035979 MedGen:C0035934,OMIM:180849,Orphanet:ORPHA353277,SNOMED CT:C0035934;MedGen:CN169374 22 41178192 41178192 A G 137789 single nucleotide variant NM_001429.3(EP300):c.5552C>T (p.Thr1851Ile) 587778257 MedGen:CN169374 22 41573267 41573267 C T 137789 single nucleotide variant NM_001429.3(EP300):c.5552C>T (p.Thr1851Ile) 587778257 MedGen:CN169374 22 41177263 41177263 C T 137790 single nucleotide variant NM_001429.3(EP300):c.5669C>G (p.Thr1890Ser) 146165770 MedGen:CN169374 22 41573384 41573384 C G 137790 single nucleotide variant NM_001429.3(EP300):c.5669C>G (p.Thr1890Ser) 146165770 MedGen:CN169374 22 41177380 41177380 C G 137791 single nucleotide variant NM_001429.3(EP300):c.6289C>G (p.Pro2097Ala) 200189212 MedGen:C0035934,OMIM:180849,Orphanet:ORPHA353277,SNOMED CT:C0035934;MedGen:CN169374 22 41574004 41574004 C G 137791 single nucleotide variant NM_001429.3(EP300):c.6289C>G (p.Pro2097Ala) 200189212 MedGen:C0035934,OMIM:180849,Orphanet:ORPHA353277,SNOMED CT:C0035934;MedGen:CN169374 22 41178000 41178000 C G 137792 single nucleotide variant NM_001429.3(EP300):c.6413C>T (p.Ala2138Val) 587778258 MedGen:CN169374 22 41574128 41574128 C T 137792 single nucleotide variant NM_001429.3(EP300):c.6413C>T (p.Ala2138Val) 587778258 MedGen:CN169374 22 41178124 41178124 C T 137793 single nucleotide variant NM_001429.3(EP300):c.6907C>G (p.Leu2303Val) 144787962 MedGen:CN169374 22 41574622 41574622 C G 137793 single nucleotide variant NM_001429.3(EP300):c.6907C>G (p.Leu2303Val) 144787962 MedGen:CN169374 22 41178618 41178618 C G 137794 single nucleotide variant NM_001429.3(EP300):c.7139C>T (p.Pro2380Leu) 587778259 MedGen:CN169374 22 41574854 41574854 C T 137794 single nucleotide variant NM_001429.3(EP300):c.7139C>T (p.Pro2380Leu) 587778259 MedGen:CN169374 22 41178850 41178850 C T 137795 single nucleotide variant NM_001429.3(EP300):c.5147G>C (p.Ser1716Thr) 147676363 MedGen:CN169374 22 41572862 41572862 G C 137795 single nucleotide variant NM_001429.3(EP300):c.5147G>C (p.Ser1716Thr) 147676363 MedGen:CN169374 22 41176858 41176858 G C 137796 single nucleotide variant NM_001429.3(EP300):c.6390G>A (p.Met2130Ile) 147973806 MedGen:CN169374 22 41574105 41574105 G A 137796 single nucleotide variant NM_001429.3(EP300):c.6390G>A (p.Met2130Ile) 147973806 MedGen:CN169374 22 41178101 41178101 G A 137797 single nucleotide variant NM_001429.3(EP300):c.6504G>A (p.Met2168Ile) 566357328 MedGen:CN169374 22 41574219 41574219 G A 137797 single nucleotide variant NM_001429.3(EP300):c.6504G>A (p.Met2168Ile) 566357328 MedGen:CN169374 22 41178215 41178215 G A 137798 single nucleotide variant NM_001429.3(EP300):c.6586G>A (p.Gly2196Arg) 587778260 MedGen:CN169374 22 41574301 41574301 G A 137798 single nucleotide variant NM_001429.3(EP300):c.6586G>A (p.Gly2196Arg) 587778260 MedGen:CN169374 22 41178297 41178297 G A 137799 single nucleotide variant NM_001429.3(EP300):c.6950G>A (p.Arg2317Gln) 149456776 MedGen:CN169374 22 41574665 41574665 G A 137799 single nucleotide variant NM_001429.3(EP300):c.6950G>A (p.Arg2317Gln) 149456776 MedGen:CN169374 22 41178661 41178661 G A 137800 single nucleotide variant NM_001429.3(EP300):c.7018G>A (p.Val2340Ile) 558456063 MedGen:CN169374 22 41574733 41574733 G A 137800 single nucleotide variant NM_001429.3(EP300):c.7018G>A (p.Val2340Ile) 558456063 MedGen:CN169374 22 41178729 41178729 G A 137801 single nucleotide variant NM_001429.3(EP300):c.923C>T (p.Pro308Leu) 587778261 MedGen:CN169374 22 41523507 41523507 C T 137801 single nucleotide variant NM_001429.3(EP300):c.923C>T (p.Pro308Leu) 587778261 MedGen:CN169374 22 41127503 41127503 C T 137802 single nucleotide variant NM_001429.3(EP300):c.1150T>G (p.Ser384Ala) 377368037 MedGen:CN169374 22 41523734 41523734 T G 137802 single nucleotide variant NM_001429.3(EP300):c.1150T>G (p.Ser384Ala) 377368037 MedGen:CN169374 22 41127730 41127730 T G 137803 single nucleotide variant NM_001429.3(EP300):c.1403A>T (p.Tyr468Phe) 587778262 MedGen:CN169374 22 41527512 41527512 A T 137803 single nucleotide variant NM_001429.3(EP300):c.1403A>T (p.Tyr468Phe) 587778262 MedGen:CN169374 22 41131508 41131508 A T 137804 single nucleotide variant NM_001429.3(EP300):c.1519A>G (p.Ser507Gly) 146242251 MedGen:C0035934,OMIM:180849,Orphanet:ORPHA353277,SNOMED CT:C0035934;MedGen:CN169374 22 41527628 41527628 A G 137804 single nucleotide variant NM_001429.3(EP300):c.1519A>G (p.Ser507Gly) 146242251 MedGen:C0035934,OMIM:180849,Orphanet:ORPHA353277,SNOMED CT:C0035934;MedGen:CN169374 22 41131624 41131624 A G 137805 single nucleotide variant NM_001429.3(EP300):c.1654T>C (p.Ser552Pro) 587778263 MedGen:CN169374 22 41533688 41533688 T C 137805 single nucleotide variant NM_001429.3(EP300):c.1654T>C (p.Ser552Pro) 587778263 MedGen:CN169374 22 41137684 41137684 T C 141323 deletion NM_001429.3(EP300):c.104_107delCTCT (p.Ser35Tyrfs) 886037664 MedGen:C3150941,OMIM:613684,Orphanet:ORPHA353284 22 41513200 41513203 CTCT - 141323 deletion NM_001429.3(EP300):c.104_107delCTCT (p.Ser35Tyrfs) 886037664 MedGen:C3150941,OMIM:613684,Orphanet:ORPHA353284 22 41117196 41117199 CTCT - 169822 single nucleotide variant NM_001429.3(EP300):c.586A>G (p.Ile196Val) 148693910 MedGen:C0035934,OMIM:180849,Orphanet:ORPHA353277,SNOMED CT:C0035934;MedGen:C3150941,OMIM:613684,Orphanet:ORPHA353284 22 41513682 41513682 A G 169822 single nucleotide variant NM_001429.3(EP300):c.586A>G (p.Ile196Val) 148693910 MedGen:C0035934,OMIM:180849,Orphanet:ORPHA353277,SNOMED CT:C0035934;MedGen:C3150941,OMIM:613684,Orphanet:ORPHA353284 22 41117678 41117678 A G 169823 single nucleotide variant NM_001429.3(EP300):c.942C>T (p.Gly314=) 20553 MedGen:C0035934,OMIM:180849,Orphanet:ORPHA353277,SNOMED CT:C0035934;MedGen:CN169374 22 41523526 41523526 C T 169823 single nucleotide variant NM_001429.3(EP300):c.942C>T (p.Gly314=) 20553 MedGen:C0035934,OMIM:180849,Orphanet:ORPHA353277,SNOMED CT:C0035934;MedGen:CN169374 22 41127522 41127522 C T 169824 single nucleotide variant NM_001429.3(EP300):c.1529-8T>C 587783621 MedGen:C3150941,OMIM:613684,Orphanet:ORPHA353284 22 41531809 41531809 T C 169824 single nucleotide variant NM_001429.3(EP300):c.1529-8T>C 587783621 MedGen:C3150941,OMIM:613684,Orphanet:ORPHA353284 22 41135805 41135805 T C 169825 single nucleotide variant NM_001429.3(EP300):c.1782G>C (p.Thr594=) 17002307 MedGen:C0035934,OMIM:180849,Orphanet:ORPHA353277,SNOMED CT:C0035934;MedGen:C3150941,OMIM:613684,Orphanet:ORPHA353284 22 41536165 41536165 G C 169825 single nucleotide variant NM_001429.3(EP300):c.1782G>C (p.Thr594=) 17002307 MedGen:C0035934,OMIM:180849,Orphanet:ORPHA353277,SNOMED CT:C0035934;MedGen:C3150941,OMIM:613684,Orphanet:ORPHA353284 22 41140161 41140161 G C 169826 single nucleotide variant NM_001429.3(EP300):c.2019T>C (p.Pro673=) 2230110 MedGen:C3150941,OMIM:613684,Orphanet:ORPHA353284 22 41537192 41537192 T C 169826 single nucleotide variant NM_001429.3(EP300):c.2019T>C (p.Pro673=) 2230110 MedGen:C3150941,OMIM:613684,Orphanet:ORPHA353284 22 41141188 41141188 T C 169827 single nucleotide variant NM_001429.3(EP300):c.2380-15T>C 17002316 MedGen:C0035934,OMIM:180849,Orphanet:ORPHA353277,SNOMED CT:C0035934;MedGen:CN169374 22 41545750 41545750 T C 169827 single nucleotide variant NM_001429.3(EP300):c.2380-15T>C 17002316 MedGen:C0035934,OMIM:180849,Orphanet:ORPHA353277,SNOMED CT:C0035934;MedGen:CN169374 22 41149746 41149746 T C 169828 single nucleotide variant NM_001429.3(EP300):c.2756G>A (p.Ser919Asn) 141403873 MedGen:CN169374 22 41546141 41546141 G A 169828 single nucleotide variant NM_001429.3(EP300):c.2756G>A (p.Ser919Asn) 141403873 MedGen:CN169374 22 41150137 41150137 G A 169829 single nucleotide variant NM_001429.3(EP300):c.2998-12G>A 115849119 MedGen:C0035934,OMIM:180849,Orphanet:ORPHA353277,SNOMED CT:C0035934;MedGen:C3150941,OMIM:613684,Orphanet:ORPHA353284 22 41548198 41548198 G A 169829 single nucleotide variant NM_001429.3(EP300):c.2998-12G>A 115849119 MedGen:C0035934,OMIM:180849,Orphanet:ORPHA353277,SNOMED CT:C0035934;MedGen:C3150941,OMIM:613684,Orphanet:ORPHA353284 22 41152194 41152194 G A 169830 single nucleotide variant NM_001429.3(EP300):c.3348G>A (p.Gln1116=) 20554 MedGen:C0035934,OMIM:180849,Orphanet:ORPHA353277,SNOMED CT:C0035934;MedGen:CN169374 22 41553259 41553259 G A 169830 single nucleotide variant NM_001429.3(EP300):c.3348G>A (p.Gln1116=) 20554 MedGen:C0035934,OMIM:180849,Orphanet:ORPHA353277,SNOMED CT:C0035934;MedGen:CN169374 22 41157255 41157255 G A 169831 single nucleotide variant NM_001429.3(EP300):c.3426C>T (p.Cys1142=) 76268515 MedGen:C0035934,OMIM:180849,Orphanet:ORPHA353277,SNOMED CT:C0035934;MedGen:CN169374 22 41553337 41553337 C T 169831 single nucleotide variant NM_001429.3(EP300):c.3426C>T (p.Cys1142=) 76268515 MedGen:C0035934,OMIM:180849,Orphanet:ORPHA353277,SNOMED CT:C0035934;MedGen:CN169374 22 41157333 41157333 C T 169832 single nucleotide variant NM_001429.3(EP300):c.3665C>A (p.Pro1222His) 7285319 MedGen:C3150941,OMIM:613684,Orphanet:ORPHA353284 22 41556720 41556720 C A 169832 single nucleotide variant NM_001429.3(EP300):c.3665C>A (p.Pro1222His) 7285319 MedGen:C3150941,OMIM:613684,Orphanet:ORPHA353284 22 41160716 41160716 C A 169833 single nucleotide variant NM_001429.3(EP300):c.5061+9C>T 73176628 MedGen:C0035934,OMIM:180849,Orphanet:ORPHA353277,SNOMED CT:C0035934;MedGen:CN169374 22 41572541 41572541 C T 169833 single nucleotide variant NM_001429.3(EP300):c.5061+9C>T 73176628 MedGen:C0035934,OMIM:180849,Orphanet:ORPHA353277,SNOMED CT:C0035934;MedGen:CN169374 22 41176537 41176537 C T 169834 single nucleotide variant NM_001429.3(EP300):c.5061+10G>A 78432056 MedGen:C0035934,OMIM:180849,Orphanet:ORPHA353277,SNOMED CT:C0035934;MedGen:C3150941,OMIM:613684,Orphanet:ORPHA353284;MedGen:CN169374 22 41572542 41572542 G A 169834 single nucleotide variant NM_001429.3(EP300):c.5061+10G>A 78432056 MedGen:C0035934,OMIM:180849,Orphanet:ORPHA353277,SNOMED CT:C0035934;MedGen:C3150941,OMIM:613684,Orphanet:ORPHA353284;MedGen:CN169374 22 41176538 41176538 G A 169835 single nucleotide variant NM_001429.3(EP300):c.6372C>T (p.Val2124=) 34985152 MedGen:C0035934,OMIM:180849,Orphanet:ORPHA353277,SNOMED CT:C0035934;MedGen:CN169374 22 41574087 41574087 C T 169835 single nucleotide variant NM_001429.3(EP300):c.6372C>T (p.Val2124=) 34985152 MedGen:C0035934,OMIM:180849,Orphanet:ORPHA353277,SNOMED CT:C0035934;MedGen:CN169374 22 41178083 41178083 C T 169836 single nucleotide variant NM_001429.3(EP300):c.6636G>A (p.Gln2212=) 142673005 MedGen:C0035934,OMIM:180849,Orphanet:ORPHA353277,SNOMED CT:C0035934;MedGen:CN169374 22 41574351 41574351 G A 169836 single nucleotide variant NM_001429.3(EP300):c.6636G>A (p.Gln2212=) 142673005 MedGen:C0035934,OMIM:180849,Orphanet:ORPHA353277,SNOMED CT:C0035934;MedGen:CN169374 22 41178347 41178347 G A 169837 single nucleotide variant NM_001429.3(EP300):c.7245G>A (p.Ter2415=) 587783622 MedGen:CN169374 22 41574960 41574960 G A 169837 single nucleotide variant NM_001429.3(EP300):c.7245G>A (p.Ter2415=) 587783622 MedGen:CN169374 22 41178956 41178956 G A 169838 deletion NM_001429.3(EP300):c.*13_*15delGTA 35508493 MedGen:C0035934,OMIM:180849,Orphanet:ORPHA353277,SNOMED CT:C0035934;MedGen:CN169374 22 41574973 41574975 GTA - 169838 deletion NM_001429.3(EP300):c.*13_*15delGTA 35508493 MedGen:C0035934,OMIM:180849,Orphanet:ORPHA353277,SNOMED CT:C0035934;MedGen:CN169374 22 41178969 41178971 GTA - 181577 single nucleotide variant NM_001429.3(EP300):c.4933C>T (p.Arg1645Ter) 139310551 MedGen:C3150941,OMIM:613684,Orphanet:ORPHA353284 22 41572404 41572404 C T 181577 single nucleotide variant NM_001429.3(EP300):c.4933C>T (p.Arg1645Ter) 139310551 MedGen:C3150941,OMIM:613684,Orphanet:ORPHA353284 22 41176400 41176400 C T 188973 single nucleotide variant NM_001429.3(EP300):c.1092C>A (p.Cys364Ter) 786205557 MedGen:CN221809 22 41523676 41523676 C A 188973 single nucleotide variant NM_001429.3(EP300):c.1092C>A (p.Cys364Ter) 786205557 MedGen:CN221809 22 41127672 41127672 C A 191007 single nucleotide variant NM_001429.3(EP300):c.2064A>G (p.Leu688=) 61756763 MedGen:C0035934,OMIM:180849,Orphanet:ORPHA353277,SNOMED CT:C0035934;MedGen:CN169374 22 41542753 41542753 A G 191007 single nucleotide variant NM_001429.3(EP300):c.2064A>G (p.Leu688=) 61756763 MedGen:C0035934,OMIM:180849,Orphanet:ORPHA353277,SNOMED CT:C0035934;MedGen:CN169374 22 41146749 41146749 A G 191199 single nucleotide variant NM_001429.3(EP300):c.2240C>T (p.Pro747Leu) 193026103 MedGen:C0035934,OMIM:180849,Orphanet:ORPHA353277,SNOMED CT:C0035934;MedGen:CN169374 22 41543949 41543949 C T 191199 single nucleotide variant NM_001429.3(EP300):c.2240C>T (p.Pro747Leu) 193026103 MedGen:C0035934,OMIM:180849,Orphanet:ORPHA353277,SNOMED CT:C0035934;MedGen:CN169374 22 41147945 41147945 C T 191887 duplication NM_001429.3(EP300):c.3143-4dupT 797044660 MedGen:CN169374 22 41550995 41550995 T TT 191887 duplication NM_001429.3(EP300):c.3143-4dupT 797044660 MedGen:CN169374 22 41154991 41154991 T TT 191888 deletion NM_001429.3(EP300):c.3143-4delT 794727184 MedGen:C0035934,OMIM:180849,Orphanet:ORPHA353277,SNOMED CT:C0035934;MedGen:CN169374 22 41550995 41550995 T - 191888 deletion NM_001429.3(EP300):c.3143-4delT 794727184 MedGen:C0035934,OMIM:180849,Orphanet:ORPHA353277,SNOMED CT:C0035934;MedGen:CN169374 22 41154991 41154991 T - 192635 single nucleotide variant NM_001429.3(EP300):c.3591-6C>T 368437789 MedGen:CN169374 22 41556640 41556640 C T 192635 single nucleotide variant NM_001429.3(EP300):c.3591-6C>T 368437789 MedGen:CN169374 22 41160636 41160636 C T 193836 single nucleotide variant NM_001429.3(EP300):c.5259C>T (p.Cys1753=) 148040990 MedGen:CN169374 22 41572974 41572974 C T 193836 single nucleotide variant NM_001429.3(EP300):c.5259C>T (p.Cys1753=) 148040990 MedGen:CN169374 22 41176970 41176970 C T 193837 single nucleotide variant NM_001429.3(EP300):c.5957C>T (p.Pro1986Leu) 144626200 MedGen:C0035934,OMIM:180849,Orphanet:ORPHA353277,SNOMED CT:C0035934;MedGen:CN169374 22 41573672 41573672 C T 193837 single nucleotide variant NM_001429.3(EP300):c.5957C>T (p.Pro1986Leu) 144626200 MedGen:C0035934,OMIM:180849,Orphanet:ORPHA353277,SNOMED CT:C0035934;MedGen:CN169374 22 41177668 41177668 C T 193838 single nucleotide variant NM_001429.3(EP300):c.6713A>G (p.Asn2238Ser) 767335677 MedGen:CN169374 22 41574428 41574428 A G 193838 single nucleotide variant NM_001429.3(EP300):c.6713A>G (p.Asn2238Ser) 767335677 MedGen:CN169374 22 41178424 41178424 A G 193839 single nucleotide variant NM_001429.3(EP300):c.6729C>T (p.Gly2243=) 765194008 MedGen:CN169374 22 41574444 41574444 C T 193839 single nucleotide variant NM_001429.3(EP300):c.6729C>T (p.Gly2243=) 765194008 MedGen:CN169374 22 41178440 41178440 C T 195293 single nucleotide variant NM_001429.3(EP300):c.1283-8T>C 76827562 MedGen:C0035934,OMIM:180849,Orphanet:ORPHA353277,SNOMED CT:C0035934;MedGen:CN169374 22 41527384 41527384 T C 195293 single nucleotide variant NM_001429.3(EP300):c.1283-8T>C 76827562 MedGen:C0035934,OMIM:180849,Orphanet:ORPHA353277,SNOMED CT:C0035934;MedGen:CN169374 22 41131380 41131380 T C 205026 single nucleotide variant NM_001429.3(EP300):c.3573T>A (p.Tyr1191Ter) 565779970 MedGen:C3150941,OMIM:613684,Orphanet:ORPHA353284 22 41158483 41158483 T A 205026 single nucleotide variant NM_001429.3(EP300):c.3573T>A (p.Tyr1191Ter) 565779970 MedGen:C3150941,OMIM:613684,Orphanet:ORPHA353284 22 41554487 41554487 T A 208796 deletion NM_001429.3(EP300):c.907-18_907-9del 797045561 MedGen:CN169374 22 41127469 41127478 TATTGTTATA - 208796 deletion NM_001429.3(EP300):c.907-18_907-9del 797045561 MedGen:CN169374 22 41523473 41523482 TATTGTTATA - 208797 single nucleotide variant NM_001429.3(EP300):c.1168+7G>C 181755354 MedGen:C0035934,OMIM:180849,Orphanet:ORPHA353277,SNOMED CT:C0035934;MedGen:CN169374 22 41523759 41523759 G C 208797 single nucleotide variant NM_001429.3(EP300):c.1168+7G>C 181755354 MedGen:C0035934,OMIM:180849,Orphanet:ORPHA353277,SNOMED CT:C0035934;MedGen:CN169374 22 41127755 41127755 G C 208798 single nucleotide variant NM_001429.3(EP300):c.1878+9C>G 186198699 MedGen:C0035934,OMIM:180849,Orphanet:ORPHA353277,SNOMED CT:C0035934;MedGen:CN169374 22 41536270 41536270 C G 208798 single nucleotide variant NM_001429.3(EP300):c.1878+9C>G 186198699 MedGen:C0035934,OMIM:180849,Orphanet:ORPHA353277,SNOMED CT:C0035934;MedGen:CN169374 22 41140266 41140266 C G 208799 single nucleotide variant NM_001429.3(EP300):c.3105C>T (p.Thr1035=) 150498069 MedGen:C0035934,OMIM:180849,Orphanet:ORPHA353277,SNOMED CT:C0035934;MedGen:CN169374 22 41152313 41152313 C T 208799 single nucleotide variant NM_001429.3(EP300):c.3105C>T (p.Thr1035=) 150498069 MedGen:C0035934,OMIM:180849,Orphanet:ORPHA353277,SNOMED CT:C0035934;MedGen:CN169374 22 41548317 41548317 C T 208800 duplication NM_001429.3(EP300):c.4836dupT (p.Val1613Cysfs) 797045559 MedGen:C3150941,OMIM:613684,Orphanet:ORPHA353284 22 41176303 41176303 T TT 208800 duplication NM_001429.3(EP300):c.4836dupT (p.Val1613Cysfs) 797045559 MedGen:C3150941,OMIM:613684,Orphanet:ORPHA353284 22 41572307 41572307 T TT 208801 deletion NM_001429.3(EP300):c.6915_6918delTCAA (p.Asn2305Lysfs) 797045560 MedGen:C3150941,OMIM:613684,Orphanet:ORPHA353284 22 41178626 41178629 TCAA - 208801 deletion NM_001429.3(EP300):c.6915_6918delTCAA (p.Asn2305Lysfs) 797045560 MedGen:C3150941,OMIM:613684,Orphanet:ORPHA353284 22 41574630 41574633 TCAA - 215600 single nucleotide variant NM_001429.3(EP300):c.952C>G (p.Pro318Ala) 762647727 MedGen:CN169374 22 41523536 41523536 C G 215600 single nucleotide variant NM_001429.3(EP300):c.952C>G (p.Pro318Ala) 762647727 MedGen:CN169374 22 41127532 41127532 C G 227707 deletion NM_001429.3(EP300):c.6574_6585delCAGCAGCAACAG (p.Gln2192_Gln2195del) 875989807 MedGen:C3150941,OMIM:613684,Orphanet:ORPHA353284 22 41574289 41574300 CAGCAGCAACAG - 227707 deletion NM_001429.3(EP300):c.6574_6585delCAGCAGCAACAG (p.Gln2192_Gln2195del) 875989807 MedGen:C3150941,OMIM:613684,Orphanet:ORPHA353284 22 41178285 41178296 CAGCAGCAACAG - 236858 deletion NM_001429.3(EP300):c.769_786del18 (p.Tyr257_Gly262del) 876661318 MedGen:C3150941,OMIM:613684,Orphanet:ORPHA353284 22 41125903 41125920 na na 236858 deletion NM_001429.3(EP300):c.769_786del18 (p.Tyr257_Gly262del) 876661318 MedGen:C3150941,OMIM:613684,Orphanet:ORPHA353284 22 41521907 41521924 na na 245212 duplication NM_001429.3(EP300):c.2164dupC (p.Gln722Profs) 879253873 MedGen:C3150941,OMIM:613684,Orphanet:ORPHA353284 22 41543873 41543873 C CC 245212 duplication NM_001429.3(EP300):c.2164dupC (p.Gln722Profs) 879253873 MedGen:C3150941,OMIM:613684,Orphanet:ORPHA353284 22 41147869 41147869 C CC 247753 single nucleotide variant NM_001429.3(EP300):c.3163C>T (p.Arg1055Ter) 886041830 MedGen:CN221809 22 41551019 41551019 C T 247753 single nucleotide variant NM_001429.3(EP300):c.3163C>T (p.Arg1055Ter) 886041830 MedGen:CN221809 22 41155015 41155015 C T 247757 deletion NM_001429.3(EP300):c.6627_6638delCCAGTTCCAGCA (p.Asn2209_Gln2213delinsLys) 587778256 MedGen:CN169374 22 41574342 41574353 CCAGTTCCAGCA - 247757 deletion NM_001429.3(EP300):c.6627_6638delCCAGTTCCAGCA (p.Asn2209_Gln2213delinsLys) 587778256 MedGen:CN169374 22 41178338 41178349 CCAGTTCCAGCA - 257685 single nucleotide variant NM_001429.3(EP300):c.95-16T>C 5758235 MedGen:CN169374 22 41117171 41117171 T C 257685 single nucleotide variant NM_001429.3(EP300):c.95-16T>C 5758235 MedGen:CN169374 22 41513175 41513175 T C 257686 single nucleotide variant NM_001429.3(EP300):c.1168+18G>A 3818120 MedGen:CN169374 22 41127766 41127766 G A 257686 single nucleotide variant NM_001429.3(EP300):c.1168+18G>A 3818120 MedGen:CN169374 22 41523770 41523770 G A 257687 single nucleotide variant NM_001429.3(EP300):c.2359G>A (p.Gly787Ser) 564786569 MedGen:CN169374 22 41545159 41545159 G A 257687 single nucleotide variant NM_001429.3(EP300):c.2359G>A (p.Gly787Ser) 564786569 MedGen:CN169374 22 41149155 41149155 G A 257688 single nucleotide variant NM_001429.3(EP300):c.5440C>A (p.Arg1814=) 757325753 MedGen:CN169374 22 41573155 41573155 C A 257688 single nucleotide variant NM_001429.3(EP300):c.5440C>A (p.Arg1814=) 757325753 MedGen:CN169374 22 41177151 41177151 C A 257689 single nucleotide variant NM_001429.3(EP300):c.6660A>G (p.Pro2220=) 886038484 MedGen:CN169374 22 41574375 41574375 A G 257689 single nucleotide variant NM_001429.3(EP300):c.6660A>G (p.Pro2220=) 886038484 MedGen:CN169374 22 41178371 41178371 A G 264931 single nucleotide variant NM_001429.3(EP300):c.3472C>T (p.Gln1158Ter) 886041739 MedGen:CN221809 22 41553383 41553383 C T 264931 single nucleotide variant NM_001429.3(EP300):c.3472C>T (p.Gln1158Ter) 886041739 MedGen:CN221809 22 41157379 41157379 C T 264993 single nucleotide variant NM_001429.3(EP300):c.3502-1G>T 886041520 MedGen:CN221809 22 41554415 41554415 G T 264993 single nucleotide variant NM_001429.3(EP300):c.3502-1G>T 886041520 MedGen:CN221809 22 41158411 41158411 G T 265631 single nucleotide variant NM_001429.3(EP300):c.3030C>G (p.Thr1010=) 148414681 MedGen:CN169374 22 41548242 41548242 C G 265631 single nucleotide variant NM_001429.3(EP300):c.3030C>G (p.Thr1010=) 148414681 MedGen:CN169374 22 41152238 41152238 C G 266103 single nucleotide variant NM_001429.3(EP300):c.739A>G (p.Met247Val) 147583157 MedGen:CN169374 22 41521877 41521877 A G 266103 single nucleotide variant NM_001429.3(EP300):c.739A>G (p.Met247Val) 147583157 MedGen:CN169374 22 41125873 41125873 A G 266823 single nucleotide variant NM_001429.3(EP300):c.1573C>T (p.Pro525Ser) 886042427 MedGen:CN169374 22 41531861 41531861 C T 266823 single nucleotide variant NM_001429.3(EP300):c.1573C>T (p.Pro525Ser) 886042427 MedGen:CN169374 22 41135857 41135857 C T 268843 single nucleotide variant NM_001429.3(EP300):c.3330G>T (p.Gln1110His) 374163115 MedGen:CN169374 22 41553241 41553241 G T 268843 single nucleotide variant NM_001429.3(EP300):c.3330G>T (p.Gln1110His) 374163115 MedGen:CN169374 22 41157237 41157237 G T 269151 deletion NM_001429.3(EP300):c.3671+5_3671+8delGTAA 886042977 MedGen:CN169374 22 41556731 41556734 GTAA - 269151 deletion NM_001429.3(EP300):c.3671+5_3671+8delGTAA 886042977 MedGen:CN169374 22 41160727 41160730 GTAA - 269629 single nucleotide variant NM_001429.3(EP300):c.1710G>A (p.Gln570=) 886043092 MedGen:CN169374 22 41533744 41533744 G A 269629 single nucleotide variant NM_001429.3(EP300):c.1710G>A (p.Gln570=) 886043092 MedGen:CN169374 22 41137740 41137740 G A 271024 single nucleotide variant NM_001429.3(EP300):c.5814G>A (p.Thr1938=) 112948044 MedGen:C0035934,OMIM:180849,Orphanet:ORPHA353277,SNOMED CT:C0035934;MedGen:CN169374 22 41573529 41573529 G A 271024 single nucleotide variant NM_001429.3(EP300):c.5814G>A (p.Thr1938=) 112948044 MedGen:C0035934,OMIM:180849,Orphanet:ORPHA353277,SNOMED CT:C0035934;MedGen:CN169374 22 41177525 41177525 G A 271309 single nucleotide variant NM_001429.3(EP300):c.5711A>C (p.Gln1904Pro) 140187237 MedGen:CN169374 22 41573426 41573426 A C 271309 single nucleotide variant NM_001429.3(EP300):c.5711A>C (p.Gln1904Pro) 140187237 MedGen:CN169374 22 41177422 41177422 A C 271464 single nucleotide variant NM_001429.3(EP300):c.5914A>G (p.Met1972Val) 373725137 MedGen:CN169374 22 41573629 41573629 A G 271464 single nucleotide variant NM_001429.3(EP300):c.5914A>G (p.Met1972Val) 373725137 MedGen:CN169374 22 41177625 41177625 A G 271466 single nucleotide variant NM_001429.3(EP300):c.4065C>A (p.Tyr1355Ter) 886043598 MedGen:C3150941,OMIM:613684,Orphanet:ORPHA353284 22 41564764 41564764 C A 271466 single nucleotide variant NM_001429.3(EP300):c.4065C>A (p.Tyr1355Ter) 886043598 MedGen:C3150941,OMIM:613684,Orphanet:ORPHA353284 22 41168760 41168760 C A 272506 single nucleotide variant NM_001429.3(EP300):c.2242-8T>C 199931034 MedGen:CN169374 22 41545034 41545034 T C 272506 single nucleotide variant NM_001429.3(EP300):c.2242-8T>C 199931034 MedGen:CN169374 22 41149030 41149030 T C 273517 single nucleotide variant NM_001429.3(EP300):c.4347T>C (p.His1449=) 137986257 MedGen:CN169374 22 41566470 41566470 T C 273517 single nucleotide variant NM_001429.3(EP300):c.4347T>C (p.His1449=) 137986257 MedGen:CN169374 22 41170466 41170466 T C 273752 single nucleotide variant NM_001429.3(EP300):c.574A>T (p.Met192Leu) 771650739 MedGen:CN169374 22 41513670 41513670 A T 273752 single nucleotide variant NM_001429.3(EP300):c.574A>T (p.Met192Leu) 771650739 MedGen:CN169374 22 41117666 41117666 A T 338218 single nucleotide variant NM_001429.3(EP300):c.-192C>T 763177046 MedGen:C0035934,OMIM:180849,Orphanet:ORPHA353277,SNOMED CT:C0035934 22 41488817 41488817 C T 338218 single nucleotide variant NM_001429.3(EP300):c.-192C>T 763177046 MedGen:C0035934,OMIM:180849,Orphanet:ORPHA353277,SNOMED CT:C0035934 22 41092813 41092813 C T 338219 single nucleotide variant NM_001429.3(EP300):c.102C>G (p.Gly34=) 750031887 MedGen:C0035934,OMIM:180849,Orphanet:ORPHA353277,SNOMED CT:C0035934 22 41513198 41513198 C G 338219 single nucleotide variant NM_001429.3(EP300):c.102C>G (p.Gly34=) 750031887 MedGen:C0035934,OMIM:180849,Orphanet:ORPHA353277,SNOMED CT:C0035934 22 41117194 41117194 C G 338221 single nucleotide variant NM_001429.3(EP300):c.157T>C (p.Leu53=) 147566983 MedGen:C0035934,OMIM:180849,Orphanet:ORPHA353277,SNOMED CT:C0035934 22 41513253 41513253 T C 338221 single nucleotide variant NM_001429.3(EP300):c.157T>C (p.Leu53=) 147566983 MedGen:C0035934,OMIM:180849,Orphanet:ORPHA353277,SNOMED CT:C0035934 22 41117249 41117249 T C 338222 single nucleotide variant NM_001429.3(EP300):c.444G>C (p.Thr148=) 376779611 MedGen:C0035934,OMIM:180849,Orphanet:ORPHA353277,SNOMED CT:C0035934 22 41513540 41513540 G C 338222 single nucleotide variant NM_001429.3(EP300):c.444G>C (p.Thr148=) 376779611 MedGen:C0035934,OMIM:180849,Orphanet:ORPHA353277,SNOMED CT:C0035934 22 41117536 41117536 G C 338225 single nucleotide variant NM_001429.3(EP300):c.513G>A (p.Ala171=) 146041458 MedGen:C0035934,OMIM:180849,Orphanet:ORPHA353277,SNOMED CT:C0035934 22 41513609 41513609 G A 338225 single nucleotide variant NM_001429.3(EP300):c.513G>A (p.Ala171=) 146041458 MedGen:C0035934,OMIM:180849,Orphanet:ORPHA353277,SNOMED CT:C0035934 22 41117605 41117605 G A 338227 single nucleotide variant NM_001429.3(EP300):c.667C>G (p.Leu223Val) 746720991 MedGen:C0035934,OMIM:180849,Orphanet:ORPHA353277,SNOMED CT:C0035934 22 41513763 41513763 C G 338227 single nucleotide variant NM_001429.3(EP300):c.667C>G (p.Leu223Val) 746720991 MedGen:C0035934,OMIM:180849,Orphanet:ORPHA353277,SNOMED CT:C0035934 22 41117759 41117759 C G 338230 single nucleotide variant NM_001429.3(EP300):c.684C>G (p.Pro228=) 749187279 MedGen:C0035934,OMIM:180849,Orphanet:ORPHA353277,SNOMED CT:C0035934 22 41117776 41117776 C G 338230 single nucleotide variant NM_001429.3(EP300):c.684C>G (p.Pro228=) 749187279 MedGen:C0035934,OMIM:180849,Orphanet:ORPHA353277,SNOMED CT:C0035934 22 41513780 41513780 C G 338236 single nucleotide variant NM_001429.3(EP300):c.726T>A (p.Leu242=) 886057555 MedGen:C0035934,OMIM:180849,Orphanet:ORPHA353277,SNOMED CT:C0035934 22 41117818 41117818 T A 338236 single nucleotide variant NM_001429.3(EP300):c.726T>A (p.Leu242=) 886057555 MedGen:C0035934,OMIM:180849,Orphanet:ORPHA353277,SNOMED CT:C0035934 22 41513822 41513822 T A 338240 single nucleotide variant NM_001429.3(EP300):c.2174T>C (p.Ile725Thr) 375822328 MedGen:C0035934,OMIM:180849,Orphanet:ORPHA353277,SNOMED CT:C0035934 22 41147879 41147879 T C 338240 single nucleotide variant NM_001429.3(EP300):c.2174T>C (p.Ile725Thr) 375822328 MedGen:C0035934,OMIM:180849,Orphanet:ORPHA353277,SNOMED CT:C0035934 22 41543883 41543883 T C 338242 single nucleotide variant NM_001429.3(EP300):c.2580A>G (p.Pro860=) 752536439 MedGen:C0035934,OMIM:180849,Orphanet:ORPHA353277,SNOMED CT:C0035934 22 41149961 41149961 A G 338242 single nucleotide variant NM_001429.3(EP300):c.2580A>G (p.Pro860=) 752536439 MedGen:C0035934,OMIM:180849,Orphanet:ORPHA353277,SNOMED CT:C0035934 22 41545965 41545965 A G 338245 single nucleotide variant NM_001429.3(EP300):c.2609C>T (p.Pro870Leu) 540935486 MedGen:C0035934,OMIM:180849,Orphanet:ORPHA353277,SNOMED CT:C0035934 22 41149990 41149990 C T 338245 single nucleotide variant NM_001429.3(EP300):c.2609C>T (p.Pro870Leu) 540935486 MedGen:C0035934,OMIM:180849,Orphanet:ORPHA353277,SNOMED CT:C0035934 22 41545994 41545994 C T 338246 single nucleotide variant NM_001429.3(EP300):c.3143-7T>G 778277906 MedGen:C0035934,OMIM:180849,Orphanet:ORPHA353277,SNOMED CT:C0035934 22 41154988 41154988 T G 338246 single nucleotide variant NM_001429.3(EP300):c.3143-7T>G 778277906 MedGen:C0035934,OMIM:180849,Orphanet:ORPHA353277,SNOMED CT:C0035934 22 41550992 41550992 T G 338250 single nucleotide variant NM_001429.3(EP300):c.4311A>C (p.Ala1437=) 150941761 MedGen:C0035934,OMIM:180849,Orphanet:ORPHA353277,SNOMED CT:C0035934 22 41566434 41566434 A C 338250 single nucleotide variant NM_001429.3(EP300):c.4311A>C (p.Ala1437=) 150941761 MedGen:C0035934,OMIM:180849,Orphanet:ORPHA353277,SNOMED CT:C0035934 22 41170430 41170430 A C 338256 single nucleotide variant NM_001429.3(EP300):c.4503G>A (p.Leu1501=) 368320273 MedGen:C0035934,OMIM:180849,Orphanet:ORPHA353277,SNOMED CT:C0035934 22 41568553 41568553 G A 338256 single nucleotide variant NM_001429.3(EP300):c.4503G>A (p.Leu1501=) 368320273 MedGen:C0035934,OMIM:180849,Orphanet:ORPHA353277,SNOMED CT:C0035934 22 41172549 41172549 G A 338259 single nucleotide variant NM_001429.3(EP300):c.4598C>A (p.Thr1533Asn) 886057561 MedGen:C0035934,OMIM:180849,Orphanet:ORPHA353277,SNOMED CT:C0035934 22 41568648 41568648 C A 338259 single nucleotide variant NM_001429.3(EP300):c.4598C>A (p.Thr1533Asn) 886057561 MedGen:C0035934,OMIM:180849,Orphanet:ORPHA353277,SNOMED CT:C0035934 22 41172644 41172644 C A 338260 single nucleotide variant NM_001429.3(EP300):c.4798C>G (p.Leu1600Val) 140154690 MedGen:C0035934,OMIM:180849,Orphanet:ORPHA353277,SNOMED CT:C0035934 22 41572269 41572269 C G 338260 single nucleotide variant NM_001429.3(EP300):c.4798C>G (p.Leu1600Val) 140154690 MedGen:C0035934,OMIM:180849,Orphanet:ORPHA353277,SNOMED CT:C0035934 22 41176265 41176265 C G 338265 single nucleotide variant NM_001429.3(EP300):c.4908C>T (p.Asp1636=) 886057562 MedGen:C0035934,OMIM:180849,Orphanet:ORPHA353277,SNOMED CT:C0035934 22 41572379 41572379 C T 338265 single nucleotide variant NM_001429.3(EP300):c.4908C>T (p.Asp1636=) 886057562 MedGen:C0035934,OMIM:180849,Orphanet:ORPHA353277,SNOMED CT:C0035934 22 41176375 41176375 C T 338270 single nucleotide variant NM_001429.3(EP300):c.5262A>G (p.Ser1754=) 886057565 MedGen:C0035934,OMIM:180849,Orphanet:ORPHA353277,SNOMED CT:C0035934 22 41572977 41572977 A G 338270 single nucleotide variant NM_001429.3(EP300):c.5262A>G (p.Ser1754=) 886057565 MedGen:C0035934,OMIM:180849,Orphanet:ORPHA353277,SNOMED CT:C0035934 22 41176973 41176973 A G 338271 single nucleotide variant NM_001429.3(EP300):c.5808G>A (p.Ala1936=) 144798492 MedGen:C0035934,OMIM:180849,Orphanet:ORPHA353277,SNOMED CT:C0035934 22 41573523 41573523 G A 338271 single nucleotide variant NM_001429.3(EP300):c.5808G>A (p.Ala1936=) 144798492 MedGen:C0035934,OMIM:180849,Orphanet:ORPHA353277,SNOMED CT:C0035934 22 41177519 41177519 G A 338273 single nucleotide variant NM_001429.3(EP300):c.6516C>A (p.His2172Gln) 139382344 MedGen:C0035934,OMIM:180849,Orphanet:ORPHA353277,SNOMED CT:C0035934 22 41574231 41574231 C A 338273 single nucleotide variant NM_001429.3(EP300):c.6516C>A (p.His2172Gln) 139382344 MedGen:C0035934,OMIM:180849,Orphanet:ORPHA353277,SNOMED CT:C0035934 22 41178227 41178227 C A 338276 single nucleotide variant NM_001429.3(EP300):c.6951G>A (p.Arg2317=) 139551099 MedGen:C0035934,OMIM:180849,Orphanet:ORPHA353277,SNOMED CT:C0035934 22 41178662 41178662 G A 338276 single nucleotide variant NM_001429.3(EP300):c.6951G>A (p.Arg2317=) 139551099 MedGen:C0035934,OMIM:180849,Orphanet:ORPHA353277,SNOMED CT:C0035934 22 41574666 41574666 G A 338277 single nucleotide variant NM_001429.3(EP300):c.*138G>A 75494658 MedGen:C0035934,OMIM:180849,Orphanet:ORPHA353277,SNOMED CT:C0035934 22 41179094 41179094 G A 338277 single nucleotide variant NM_001429.3(EP300):c.*138G>A 75494658 MedGen:C0035934,OMIM:180849,Orphanet:ORPHA353277,SNOMED CT:C0035934 22 41575098 41575098 G A 338281 duplication NM_001429.3(EP300):c.*340dupT 886057573 MedGen:C0035934,OMIM:180849,Orphanet:ORPHA353277,SNOMED CT:C0035934 22 41179296 41179296 T TT 338281 duplication NM_001429.3(EP300):c.*340dupT 886057573 MedGen:C0035934,OMIM:180849,Orphanet:ORPHA353277,SNOMED CT:C0035934 22 41575300 41575300 T TT 338285 deletion NM_001429.3(EP300):c.*592delA 60283061 MedGen:C0035934,OMIM:180849,Orphanet:ORPHA353277,SNOMED CT:C0035934 22 41179548 41179548 A - 338285 deletion NM_001429.3(EP300):c.*592delA 60283061 MedGen:C0035934,OMIM:180849,Orphanet:ORPHA353277,SNOMED CT:C0035934 22 41575552 41575552 A - 338289 duplication NM_001429.3(EP300):c.*592dupA 398037214 MedGen:C0035934,OMIM:180849,Orphanet:ORPHA353277,SNOMED CT:C0035934 22 41179548 41179548 A AA 338289 duplication NM_001429.3(EP300):c.*592dupA 398037214 MedGen:C0035934,OMIM:180849,Orphanet:ORPHA353277,SNOMED CT:C0035934 22 41575552 41575552 A AA 338296 single nucleotide variant NM_001429.3(EP300):c.*753T>C 886057576 MedGen:C0035934,OMIM:180849,Orphanet:ORPHA353277,SNOMED CT:C0035934 22 41179709 41179709 T C 338296 single nucleotide variant NM_001429.3(EP300):c.*753T>C 886057576 MedGen:C0035934,OMIM:180849,Orphanet:ORPHA353277,SNOMED CT:C0035934 22 41575713 41575713 T C 338298 indel NM_001429.3(EP300):c.*922_*932delACTCACACACAinsC 886057580 MedGen:C0035934,OMIM:180849,Orphanet:ORPHA353277,SNOMED CT:C0035934 22 41575882 41575892 ACTCACACACA C 338298 indel NM_001429.3(EP300):c.*922_*932delACTCACACACAinsC 886057580 MedGen:C0035934,OMIM:180849,Orphanet:ORPHA353277,SNOMED CT:C0035934 22 41179878 41179888 ACTCACACACA C 338300 indel NM_001429.3(EP300):c.*922_*932delACTCACACACAinsCCC 886057580 MedGen:C0035934,OMIM:180849,Orphanet:ORPHA353277,SNOMED CT:C0035934 22 41575882 41575892 ACTCACACACA CCC 338300 indel NM_001429.3(EP300):c.*922_*932delACTCACACACAinsCCC 886057580 MedGen:C0035934,OMIM:180849,Orphanet:ORPHA353277,SNOMED CT:C0035934 22 41179878 41179888 ACTCACACACA CCC 338310 indel NM_001429.3(EP300):c.*922_*938del17insC 886057581 MedGen:C0035934,OMIM:180849,Orphanet:ORPHA353277,SNOMED CT:C0035934 22 41575882 41575898 na C 338310 indel NM_001429.3(EP300):c.*922_*938del17insC 886057581 MedGen:C0035934,OMIM:180849,Orphanet:ORPHA353277,SNOMED CT:C0035934 22 41179878 41179894 na C 338315 single nucleotide variant NM_001429.3(EP300):c.*926A>C 140429533 MedGen:C0035934,OMIM:180849,Orphanet:ORPHA353277,SNOMED CT:C0035934 22 41575886 41575886 A C 338315 single nucleotide variant NM_001429.3(EP300):c.*926A>C 140429533 MedGen:C0035934,OMIM:180849,Orphanet:ORPHA353277,SNOMED CT:C0035934 22 41179882 41179882 A C 338317 single nucleotide variant NM_001429.3(EP300):c.*928A>C 142198417 MedGen:C0035934,OMIM:180849,Orphanet:ORPHA353277,SNOMED CT:C0035934 22 41575888 41575888 A C 338317 single nucleotide variant NM_001429.3(EP300):c.*928A>C 142198417 MedGen:C0035934,OMIM:180849,Orphanet:ORPHA353277,SNOMED CT:C0035934 22 41179884 41179884 A C 338323 duplication NM_001429.3(EP300):c.*964_*967dupACAC 59721178 MedGen:C0035934,OMIM:180849,Orphanet:ORPHA353277,SNOMED CT:C0035934 22 41179920 41179923 ACAC ACACACAC 338323 duplication NM_001429.3(EP300):c.*964_*967dupACAC 59721178 MedGen:C0035934,OMIM:180849,Orphanet:ORPHA353277,SNOMED CT:C0035934 22 41575924 41575927 ACAC ACACACAC 338324 deletion NM_001429.3(EP300):c.*966_*967delAC 886057583 MedGen:C0035934,OMIM:180849,Orphanet:ORPHA353277,SNOMED CT:C0035934 22 41179922 41179923 AC - 338324 deletion NM_001429.3(EP300):c.*966_*967delAC 886057583 MedGen:C0035934,OMIM:180849,Orphanet:ORPHA353277,SNOMED CT:C0035934 22 41575926 41575927 AC - 347898 single nucleotide variant NM_001429.3(EP300):c.-149G>A 553861147 MedGen:C0035934,OMIM:180849,Orphanet:ORPHA353277,SNOMED CT:C0035934 22 41488860 41488860 G A 347898 single nucleotide variant NM_001429.3(EP300):c.-149G>A 553861147 MedGen:C0035934,OMIM:180849,Orphanet:ORPHA353277,SNOMED CT:C0035934 22 41092856 41092856 G A 347905 single nucleotide variant NM_001429.3(EP300):c.324C>T (p.Ala108=) 138876937 MedGen:C0035934,OMIM:180849,Orphanet:ORPHA353277,SNOMED CT:C0035934 22 41513420 41513420 C T 347905 single nucleotide variant NM_001429.3(EP300):c.324C>T (p.Ala108=) 138876937 MedGen:C0035934,OMIM:180849,Orphanet:ORPHA353277,SNOMED CT:C0035934 22 41117416 41117416 C T 347913 single nucleotide variant NM_001429.3(EP300):c.444G>A (p.Thr148=) 376779611 MedGen:C0035934,OMIM:180849,Orphanet:ORPHA353277,SNOMED CT:C0035934 22 41513540 41513540 G A 347913 single nucleotide variant NM_001429.3(EP300):c.444G>A (p.Thr148=) 376779611 MedGen:C0035934,OMIM:180849,Orphanet:ORPHA353277,SNOMED CT:C0035934 22 41117536 41117536 G A 347923 single nucleotide variant NM_001429.3(EP300):c.1302C>T (p.Pro434=) 199901345 MedGen:C0035934,OMIM:180849,Orphanet:ORPHA353277,SNOMED CT:C0035934 22 41131407 41131407 C T 347923 single nucleotide variant NM_001429.3(EP300):c.1302C>T (p.Pro434=) 199901345 MedGen:C0035934,OMIM:180849,Orphanet:ORPHA353277,SNOMED CT:C0035934 22 41527411 41527411 C T 347924 single nucleotide variant NM_001429.3(EP300):c.1516A>G (p.Met506Val) 886057556 MedGen:C0035934,OMIM:180849,Orphanet:ORPHA353277,SNOMED CT:C0035934 22 41131621 41131621 A G 347924 single nucleotide variant NM_001429.3(EP300):c.1516A>G (p.Met506Val) 886057556 MedGen:C0035934,OMIM:180849,Orphanet:ORPHA353277,SNOMED CT:C0035934 22 41527625 41527625 A G 347927 single nucleotide variant NM_001429.3(EP300):c.1540A>G (p.Met514Val) 765266179 MedGen:C0035934,OMIM:180849,Orphanet:ORPHA353277,SNOMED CT:C0035934 22 41135824 41135824 A G 347927 single nucleotide variant NM_001429.3(EP300):c.1540A>G (p.Met514Val) 765266179 MedGen:C0035934,OMIM:180849,Orphanet:ORPHA353277,SNOMED CT:C0035934 22 41531828 41531828 A G 347930 deletion NM_001429.3(EP300):c.2242-6_2242-4delTTT 886057559 MedGen:C0035934,OMIM:180849,Orphanet:ORPHA353277,SNOMED CT:C0035934 22 41149032 41149034 TTT - 347930 deletion NM_001429.3(EP300):c.2242-6_2242-4delTTT 886057559 MedGen:C0035934,OMIM:180849,Orphanet:ORPHA353277,SNOMED CT:C0035934 22 41545036 41545038 TTT - 347933 single nucleotide variant NM_001429.3(EP300):c.2393G>A (p.Ser798Asn) 781326261 MedGen:C0035934,OMIM:180849,Orphanet:ORPHA353277,SNOMED CT:C0035934 22 41149774 41149774 G A 347933 single nucleotide variant NM_001429.3(EP300):c.2393G>A (p.Ser798Asn) 781326261 MedGen:C0035934,OMIM:180849,Orphanet:ORPHA353277,SNOMED CT:C0035934 22 41545778 41545778 G A 347938 single nucleotide variant NM_001429.3(EP300):c.2629G>A (p.Ala877Thr) 772289466 MedGen:C0035934,OMIM:180849,Orphanet:ORPHA353277,SNOMED CT:C0035934 22 41150010 41150010 G A 347938 single nucleotide variant NM_001429.3(EP300):c.2629G>A (p.Ala877Thr) 772289466 MedGen:C0035934,OMIM:180849,Orphanet:ORPHA353277,SNOMED CT:C0035934 22 41546014 41546014 G A 347966 duplication NM_001429.3(EP300):c.*921dupC 886057578 MedGen:C0035934,OMIM:180849,Orphanet:ORPHA353277,SNOMED CT:C0035934 22 41179877 41179877 C CC 347948 single nucleotide variant NM_001429.3(EP300):c.2931G>C (p.Lys977Asn) 749225428 MedGen:C0035934,OMIM:180849,Orphanet:ORPHA353277,SNOMED CT:C0035934 22 41151946 41151946 G C 347948 single nucleotide variant NM_001429.3(EP300):c.2931G>C (p.Lys977Asn) 749225428 MedGen:C0035934,OMIM:180849,Orphanet:ORPHA353277,SNOMED CT:C0035934 22 41547950 41547950 G C 347951 single nucleotide variant NM_001429.3(EP300):c.3162A>G (p.Leu1054=) 139758629 MedGen:C0035934,OMIM:180849,Orphanet:ORPHA353277,SNOMED CT:C0035934 22 41155014 41155014 A G 347951 single nucleotide variant NM_001429.3(EP300):c.3162A>G (p.Leu1054=) 139758629 MedGen:C0035934,OMIM:180849,Orphanet:ORPHA353277,SNOMED CT:C0035934 22 41551018 41551018 A G 347952 single nucleotide variant NM_001429.3(EP300):c.4824C>G (p.Ser1608=) 199994113 MedGen:C0035934,OMIM:180849,Orphanet:ORPHA353277,SNOMED CT:C0035934 22 41572295 41572295 C G 347952 single nucleotide variant NM_001429.3(EP300):c.4824C>G (p.Ser1608=) 199994113 MedGen:C0035934,OMIM:180849,Orphanet:ORPHA353277,SNOMED CT:C0035934 22 41176291 41176291 C G 347953 single nucleotide variant NM_001429.3(EP300):c.5061+7A>G 886057563 MedGen:C0035934,OMIM:180849,Orphanet:ORPHA353277,SNOMED CT:C0035934 22 41572539 41572539 A G 347953 single nucleotide variant NM_001429.3(EP300):c.5061+7A>G 886057563 MedGen:C0035934,OMIM:180849,Orphanet:ORPHA353277,SNOMED CT:C0035934 22 41176535 41176535 A G 347955 single nucleotide variant NM_001429.3(EP300):c.5604G>A (p.Thr1868=) 200795114 MedGen:C0035934,OMIM:180849,Orphanet:ORPHA353277,SNOMED CT:C0035934 22 41573319 41573319 G A 347955 single nucleotide variant NM_001429.3(EP300):c.5604G>A (p.Thr1868=) 200795114 MedGen:C0035934,OMIM:180849,Orphanet:ORPHA353277,SNOMED CT:C0035934 22 41177315 41177315 G A 347957 single nucleotide variant NM_001429.3(EP300):c.5644A>G (p.Ser1882Gly) 769796204 MedGen:C0035934,OMIM:180849,Orphanet:ORPHA353277,SNOMED CT:C0035934 22 41573359 41573359 A G 347957 single nucleotide variant NM_001429.3(EP300):c.5644A>G (p.Ser1882Gly) 769796204 MedGen:C0035934,OMIM:180849,Orphanet:ORPHA353277,SNOMED CT:C0035934 22 41177355 41177355 A G 347959 single nucleotide variant NM_001429.3(EP300):c.5889C>T (p.Ala1963=) 886057566 MedGen:C0035934,OMIM:180849,Orphanet:ORPHA353277,SNOMED CT:C0035934 22 41573604 41573604 C T 347959 single nucleotide variant NM_001429.3(EP300):c.5889C>T (p.Ala1963=) 886057566 MedGen:C0035934,OMIM:180849,Orphanet:ORPHA353277,SNOMED CT:C0035934 22 41177600 41177600 C T 347960 deletion NM_001429.3(EP300):c.*40_*44delCTCTT 886057572 MedGen:C0035934,OMIM:180849,Orphanet:ORPHA353277,SNOMED CT:C0035934 22 41178996 41179000 CTCTT - 347960 deletion NM_001429.3(EP300):c.*40_*44delCTCTT 886057572 MedGen:C0035934,OMIM:180849,Orphanet:ORPHA353277,SNOMED CT:C0035934 22 41575000 41575004 CTCTT - 347962 single nucleotide variant NM_001429.3(EP300):c.*552G>A 886057574 MedGen:C0035934,OMIM:180849,Orphanet:ORPHA353277,SNOMED CT:C0035934 22 41179508 41179508 G A 347962 single nucleotide variant NM_001429.3(EP300):c.*552G>A 886057574 MedGen:C0035934,OMIM:180849,Orphanet:ORPHA353277,SNOMED CT:C0035934 22 41575512 41575512 G A 347963 single nucleotide variant NM_001429.3(EP300):c.*559A>G 886057575 MedGen:C0035934,OMIM:180849,Orphanet:ORPHA353277,SNOMED CT:C0035934 22 41179515 41179515 A G 347963 single nucleotide variant NM_001429.3(EP300):c.*559A>G 886057575 MedGen:C0035934,OMIM:180849,Orphanet:ORPHA353277,SNOMED CT:C0035934 22 41575519 41575519 A G 347966 duplication NM_001429.3(EP300):c.*921dupC 886057578 MedGen:C0035934,OMIM:180849,Orphanet:ORPHA353277,SNOMED CT:C0035934 22 41575881 41575881 C CC 347967 indel NM_001429.3(EP300):c.*922_*942del21insCC 886057582 MedGen:C0035934,OMIM:180849,Orphanet:ORPHA353277,SNOMED CT:C0035934 22 41575882 41575902 na CC 347967 indel NM_001429.3(EP300):c.*922_*942del21insCC 886057582 MedGen:C0035934,OMIM:180849,Orphanet:ORPHA353277,SNOMED CT:C0035934 22 41179878 41179898 na CC 347971 single nucleotide variant NM_001429.3(EP300):c.*924T>A 149250603 MedGen:C0035934,OMIM:180849,Orphanet:ORPHA353277,SNOMED CT:C0035934 22 41575884 41575884 T A 347971 single nucleotide variant NM_001429.3(EP300):c.*924T>A 149250603 MedGen:C0035934,OMIM:180849,Orphanet:ORPHA353277,SNOMED CT:C0035934 22 41179880 41179880 T A 347972 single nucleotide variant NM_001429.3(EP300):c.*938A>C 886057586 MedGen:C0035934,OMIM:180849,Orphanet:ORPHA353277,SNOMED CT:C0035934 22 41575898 41575898 A C 347972 single nucleotide variant NM_001429.3(EP300):c.*938A>C 886057586 MedGen:C0035934,OMIM:180849,Orphanet:ORPHA353277,SNOMED CT:C0035934 22 41179894 41179894 A C 347974 single nucleotide variant NM_001429.3(EP300):c.*942A>C 754018515 MedGen:C0035934,OMIM:180849,Orphanet:ORPHA353277,SNOMED CT:C0035934 22 41575902 41575902 A C 347974 single nucleotide variant NM_001429.3(EP300):c.*942A>C 754018515 MedGen:C0035934,OMIM:180849,Orphanet:ORPHA353277,SNOMED CT:C0035934 22 41179898 41179898 A C 347977 single nucleotide variant NM_001429.3(EP300):c.*968T>A 3210590 MedGen:C0035934,OMIM:180849,Orphanet:ORPHA353277,SNOMED CT:C0035934 22 41179924 41179924 T A 347977 single nucleotide variant NM_001429.3(EP300):c.*968T>A 3210590 MedGen:C0035934,OMIM:180849,Orphanet:ORPHA353277,SNOMED CT:C0035934 22 41575928 41575928 T A 351656 single nucleotide variant NM_001429.3(EP300):c.-212C>T 886057553 MedGen:C0035934,OMIM:180849,Orphanet:ORPHA353277,SNOMED CT:C0035934 22 41092793 41092793 C T 351654 single nucleotide variant NM_001429.3(EP300):c.-238T>C 886057551 MedGen:C0035934,OMIM:180849,Orphanet:ORPHA353277,SNOMED CT:C0035934 22 41488771 41488771 T C 351654 single nucleotide variant NM_001429.3(EP300):c.-238T>C 886057551 MedGen:C0035934,OMIM:180849,Orphanet:ORPHA353277,SNOMED CT:C0035934 22 41092767 41092767 T C 351656 single nucleotide variant NM_001429.3(EP300):c.-212C>T 886057553 MedGen:C0035934,OMIM:180849,Orphanet:ORPHA353277,SNOMED CT:C0035934 22 41488797 41488797 C T 351659 single nucleotide variant NM_001429.3(EP300):c.-133A>G 116913445 MedGen:C0035934,OMIM:180849,Orphanet:ORPHA353277,SNOMED CT:C0035934 22 41488876 41488876 A G 351659 single nucleotide variant NM_001429.3(EP300):c.-133A>G 116913445 MedGen:C0035934,OMIM:180849,Orphanet:ORPHA353277,SNOMED CT:C0035934 22 41092872 41092872 A G 351660 single nucleotide variant NM_001429.3(EP300):c.94+13A>G 201124490 MedGen:C0035934,OMIM:180849,Orphanet:ORPHA353277,SNOMED CT:C0035934 22 41489115 41489115 A G 351660 single nucleotide variant NM_001429.3(EP300):c.94+13A>G 201124490 MedGen:C0035934,OMIM:180849,Orphanet:ORPHA353277,SNOMED CT:C0035934 22 41093111 41093111 A G 351664 single nucleotide variant NM_001429.3(EP300):c.678C>G (p.Gly226=) 147244947 MedGen:C0035934,OMIM:180849,Orphanet:ORPHA353277,SNOMED CT:C0035934 22 41117770 41117770 C G 351664 single nucleotide variant NM_001429.3(EP300):c.678C>G (p.Gly226=) 147244947 MedGen:C0035934,OMIM:180849,Orphanet:ORPHA353277,SNOMED CT:C0035934 22 41513774 41513774 C G 351665 single nucleotide variant NM_001429.3(EP300):c.781C>T (p.Pro261Ser) 753462821 MedGen:C0035934,OMIM:180849,Orphanet:ORPHA353277,SNOMED CT:C0035934 22 41125915 41125915 C T 351665 single nucleotide variant NM_001429.3(EP300):c.781C>T (p.Pro261Ser) 753462821 MedGen:C0035934,OMIM:180849,Orphanet:ORPHA353277,SNOMED CT:C0035934 22 41521919 41521919 C T 351668 single nucleotide variant NM_001429.3(EP300):c.1528+15T>C 200147263 MedGen:C0035934,OMIM:180849,Orphanet:ORPHA353277,SNOMED CT:C0035934 22 41131648 41131648 T C 351668 single nucleotide variant NM_001429.3(EP300):c.1528+15T>C 200147263 MedGen:C0035934,OMIM:180849,Orphanet:ORPHA353277,SNOMED CT:C0035934 22 41527652 41527652 T C 351671 single nucleotide variant NM_001429.3(EP300):c.2131+13A>T 886057558 MedGen:C0035934,OMIM:180849,Orphanet:ORPHA353277,SNOMED CT:C0035934 22 41146829 41146829 A T 351671 single nucleotide variant NM_001429.3(EP300):c.2131+13A>T 886057558 MedGen:C0035934,OMIM:180849,Orphanet:ORPHA353277,SNOMED CT:C0035934 22 41542833 41542833 A T 351672 single nucleotide variant NM_001429.3(EP300):c.2787A>G (p.Ala929=) 143690368 MedGen:C0035934,OMIM:180849,Orphanet:ORPHA353277,SNOMED CT:C0035934 22 41150168 41150168 A G 351672 single nucleotide variant NM_001429.3(EP300):c.2787A>G (p.Ala929=) 143690368 MedGen:C0035934,OMIM:180849,Orphanet:ORPHA353277,SNOMED CT:C0035934 22 41546172 41546172 A G 351674 single nucleotide variant NM_001429.3(EP300):c.3624C>A (p.Ile1208=) 143660871 MedGen:C0035934,OMIM:180849,Orphanet:ORPHA353277,SNOMED CT:C0035934 22 41556679 41556679 C A 351674 single nucleotide variant NM_001429.3(EP300):c.3624C>A (p.Ile1208=) 143660871 MedGen:C0035934,OMIM:180849,Orphanet:ORPHA353277,SNOMED CT:C0035934 22 41160675 41160675 C A 351676 single nucleotide variant NM_001429.3(EP300):c.4026-7T>C 187388966 MedGen:C0035934,OMIM:180849,Orphanet:ORPHA353277,SNOMED CT:C0035934 22 41564718 41564718 T C 351676 single nucleotide variant NM_001429.3(EP300):c.4026-7T>C 187388966 MedGen:C0035934,OMIM:180849,Orphanet:ORPHA353277,SNOMED CT:C0035934 22 41168714 41168714 T C 351678 single nucleotide variant NM_001429.3(EP300):c.5028T>C (p.His1676=) 747152661 MedGen:C0035934,OMIM:180849,Orphanet:ORPHA353277,SNOMED CT:C0035934 22 41572499 41572499 T C 351678 single nucleotide variant NM_001429.3(EP300):c.5028T>C (p.His1676=) 747152661 MedGen:C0035934,OMIM:180849,Orphanet:ORPHA353277,SNOMED CT:C0035934 22 41176495 41176495 T C 351680 single nucleotide variant NM_001429.3(EP300):c.5172C>A (p.Thr1724=) 142330184 MedGen:C0035934,OMIM:180849,Orphanet:ORPHA353277,SNOMED CT:C0035934 22 41572887 41572887 C A 351680 single nucleotide variant NM_001429.3(EP300):c.5172C>A (p.Thr1724=) 142330184 MedGen:C0035934,OMIM:180849,Orphanet:ORPHA353277,SNOMED CT:C0035934 22 41176883 41176883 C A 351682 single nucleotide variant NM_001429.3(EP300):c.5179C>T (p.Pro1727Ser) 886057564 MedGen:C0035934,OMIM:180849,Orphanet:ORPHA353277,SNOMED CT:C0035934 22 41572894 41572894 C T 351682 single nucleotide variant NM_001429.3(EP300):c.5179C>T (p.Pro1727Ser) 886057564 MedGen:C0035934,OMIM:180849,Orphanet:ORPHA353277,SNOMED CT:C0035934 22 41176890 41176890 C T 351684 single nucleotide variant NM_001429.3(EP300):c.6358G>T (p.Gly2120Cys) 886057567 MedGen:C0035934,OMIM:180849,Orphanet:ORPHA353277,SNOMED CT:C0035934 22 41574073 41574073 G T 351684 single nucleotide variant NM_001429.3(EP300):c.6358G>T (p.Gly2120Cys) 886057567 MedGen:C0035934,OMIM:180849,Orphanet:ORPHA353277,SNOMED CT:C0035934 22 41178069 41178069 G T 351685 single nucleotide variant NM_001429.3(EP300):c.6374A>G (p.His2125Arg) 886057568 MedGen:C0035934,OMIM:180849,Orphanet:ORPHA353277,SNOMED CT:C0035934 22 41574089 41574089 A G 351685 single nucleotide variant NM_001429.3(EP300):c.6374A>G (p.His2125Arg) 886057568 MedGen:C0035934,OMIM:180849,Orphanet:ORPHA353277,SNOMED CT:C0035934 22 41178085 41178085 A G 351687 single nucleotide variant NM_001429.3(EP300):c.6395A>T (p.Asn2132Ile) 886057569 MedGen:C0035934,OMIM:180849,Orphanet:ORPHA353277,SNOMED CT:C0035934 22 41574110 41574110 A T 351687 single nucleotide variant NM_001429.3(EP300):c.6395A>T (p.Asn2132Ile) 886057569 MedGen:C0035934,OMIM:180849,Orphanet:ORPHA353277,SNOMED CT:C0035934 22 41178106 41178106 A T 351689 single nucleotide variant NM_001429.3(EP300):c.6417C>T (p.Gly2139=) 111315183 MedGen:C0035934,OMIM:180849,Orphanet:ORPHA353277,SNOMED CT:C0035934 22 41574132 41574132 C T 351689 single nucleotide variant NM_001429.3(EP300):c.6417C>T (p.Gly2139=) 111315183 MedGen:C0035934,OMIM:180849,Orphanet:ORPHA353277,SNOMED CT:C0035934 22 41178128 41178128 C T 351691 single nucleotide variant NM_001429.3(EP300):c.6526C>T (p.Pro2176Ser) 779543207 MedGen:C0035934,OMIM:180849,Orphanet:ORPHA353277,SNOMED CT:C0035934 22 41178237 41178237 C T 351691 single nucleotide variant NM_001429.3(EP300):c.6526C>T (p.Pro2176Ser) 779543207 MedGen:C0035934,OMIM:180849,Orphanet:ORPHA353277,SNOMED CT:C0035934 22 41574241 41574241 C T 351692 single nucleotide variant NM_001429.3(EP300):c.6969C>G (p.Pro2323=) 111489369 MedGen:C0035934,OMIM:180849,Orphanet:ORPHA353277,SNOMED CT:C0035934 22 41178680 41178680 C G 351692 single nucleotide variant NM_001429.3(EP300):c.6969C>G (p.Pro2323=) 111489369 MedGen:C0035934,OMIM:180849,Orphanet:ORPHA353277,SNOMED CT:C0035934 22 41574684 41574684 C G 351695 single nucleotide variant NM_001429.3(EP300):c.*137C>T 113567138 MedGen:C0035934,OMIM:180849,Orphanet:ORPHA353277,SNOMED CT:C0035934 22 41179093 41179093 C T 351695 single nucleotide variant NM_001429.3(EP300):c.*137C>T 113567138 MedGen:C0035934,OMIM:180849,Orphanet:ORPHA353277,SNOMED CT:C0035934 22 41575097 41575097 C T 351697 single nucleotide variant NM_001429.3(EP300):c.*298A>G 552755933 MedGen:C0035934,OMIM:180849,Orphanet:ORPHA353277,SNOMED CT:C0035934 22 41179254 41179254 A G 351697 single nucleotide variant NM_001429.3(EP300):c.*298A>G 552755933 MedGen:C0035934,OMIM:180849,Orphanet:ORPHA353277,SNOMED CT:C0035934 22 41575258 41575258 A G 351698 single nucleotide variant NM_001429.3(EP300):c.*352C>T 577686550 MedGen:C0035934,OMIM:180849,Orphanet:ORPHA353277,SNOMED CT:C0035934 22 41179308 41179308 C T 351698 single nucleotide variant NM_001429.3(EP300):c.*352C>T 577686550 MedGen:C0035934,OMIM:180849,Orphanet:ORPHA353277,SNOMED CT:C0035934 22 41575312 41575312 C T 351702 single nucleotide variant NM_001429.3(EP300):c.*568A>G 533563820 MedGen:C0035934,OMIM:180849,Orphanet:ORPHA353277,SNOMED CT:C0035934 22 41179524 41179524 A G 351702 single nucleotide variant NM_001429.3(EP300):c.*568A>G 533563820 MedGen:C0035934,OMIM:180849,Orphanet:ORPHA353277,SNOMED CT:C0035934 22 41575528 41575528 A G 351703 duplication NM_001429.3(EP300):c.*591_*592dupAA 398037214 MedGen:C0035934,OMIM:180849,Orphanet:ORPHA353277,SNOMED CT:C0035934 22 41575551 41575552 AA AAAA 351703 duplication NM_001429.3(EP300):c.*591_*592dupAA 398037214 MedGen:C0035934,OMIM:180849,Orphanet:ORPHA353277,SNOMED CT:C0035934 22 41179547 41179548 AA AAAA 351706 deletion NM_001429.3(EP300):c.*785_*786delTT 886057577 MedGen:C0035934,OMIM:180849,Orphanet:ORPHA353277,SNOMED CT:C0035934 22 41575745 41575746 TT - 351706 deletion NM_001429.3(EP300):c.*785_*786delTT 886057577 MedGen:C0035934,OMIM:180849,Orphanet:ORPHA353277,SNOMED CT:C0035934 22 41179741 41179742 TT - 351707 single nucleotide variant NM_001429.3(EP300):c.*815A>C 572918594 MedGen:C0035934,OMIM:180849,Orphanet:ORPHA353277,SNOMED CT:C0035934 22 41575775 41575775 A C 351707 single nucleotide variant NM_001429.3(EP300):c.*815A>C 572918594 MedGen:C0035934,OMIM:180849,Orphanet:ORPHA353277,SNOMED CT:C0035934 22 41179771 41179771 A C 351710 indel NM_001429.3(EP300):c.*922_*930delACTCACACAinsC 886057579 MedGen:C0035934,OMIM:180849,Orphanet:ORPHA353277,SNOMED CT:C0035934 22 41575882 41575890 ACTCACACA C 351710 indel NM_001429.3(EP300):c.*922_*930delACTCACACAinsC 886057579 MedGen:C0035934,OMIM:180849,Orphanet:ORPHA353277,SNOMED CT:C0035934 22 41179878 41179886 ACTCACACA C 351711 indel NM_001429.3(EP300):c.*922_*930delACTCACACAinsCCC 886057579 MedGen:C0035934,OMIM:180849,Orphanet:ORPHA353277,SNOMED CT:C0035934 22 41575882 41575890 ACTCACACA CCC 351711 indel NM_001429.3(EP300):c.*922_*930delACTCACACAinsCCC 886057579 MedGen:C0035934,OMIM:180849,Orphanet:ORPHA353277,SNOMED CT:C0035934 22 41179878 41179886 ACTCACACA CCC 351714 indel NM_001429.3(EP300):c.*922_*942del21insC 886057582 MedGen:C0035934,OMIM:180849,Orphanet:ORPHA353277,SNOMED CT:C0035934 22 41575882 41575902 na C 351714 indel NM_001429.3(EP300):c.*922_*942del21insC 886057582 MedGen:C0035934,OMIM:180849,Orphanet:ORPHA353277,SNOMED CT:C0035934 22 41179878 41179898 na C 351715 single nucleotide variant NM_001429.3(EP300):c.*930A>C 879634387 MedGen:C0035934,OMIM:180849,Orphanet:ORPHA353277,SNOMED CT:C0035934 22 41575890 41575890 A C 351715 single nucleotide variant NM_001429.3(EP300):c.*930A>C 879634387 MedGen:C0035934,OMIM:180849,Orphanet:ORPHA353277,SNOMED CT:C0035934 22 41179886 41179886 A C 351718 duplication NM_001429.3(EP300):c.*966_*967dupAC 59721178 MedGen:C0035934,OMIM:180849,Orphanet:ORPHA353277,SNOMED CT:C0035934 22 41179922 41179923 AC ACAC 351718 duplication NM_001429.3(EP300):c.*966_*967dupAC 59721178 MedGen:C0035934,OMIM:180849,Orphanet:ORPHA353277,SNOMED CT:C0035934 22 41575926 41575927 AC ACAC 352595 single nucleotide variant NM_001429.3(EP300):c.-363A>C 886057550 MedGen:C0035934,OMIM:180849,Orphanet:ORPHA353277,SNOMED CT:C0035934 22 41488646 41488646 A C 352595 single nucleotide variant NM_001429.3(EP300):c.-363A>C 886057550 MedGen:C0035934,OMIM:180849,Orphanet:ORPHA353277,SNOMED CT:C0035934 22 41092642 41092642 A C 352596 single nucleotide variant NM_001429.3(EP300):c.-237C>T 886057552 MedGen:C0035934,OMIM:180849,Orphanet:ORPHA353277,SNOMED CT:C0035934 22 41488772 41488772 C T 352596 single nucleotide variant NM_001429.3(EP300):c.-237C>T 886057552 MedGen:C0035934,OMIM:180849,Orphanet:ORPHA353277,SNOMED CT:C0035934 22 41092768 41092768 C T 352597 single nucleotide variant NM_001429.3(EP300):c.-139A>G 886057554 MedGen:C0035934,OMIM:180849,Orphanet:ORPHA353277,SNOMED CT:C0035934 22 41488870 41488870 A G 352597 single nucleotide variant NM_001429.3(EP300):c.-139A>G 886057554 MedGen:C0035934,OMIM:180849,Orphanet:ORPHA353277,SNOMED CT:C0035934 22 41092866 41092866 A G 352598 single nucleotide variant NM_001429.3(EP300):c.615G>A (p.Met205Ile) 766306644 MedGen:C0035934,OMIM:180849,Orphanet:ORPHA353277,SNOMED CT:C0035934 22 41513711 41513711 G A 352598 single nucleotide variant NM_001429.3(EP300):c.615G>A (p.Met205Ile) 766306644 MedGen:C0035934,OMIM:180849,Orphanet:ORPHA353277,SNOMED CT:C0035934 22 41117707 41117707 G A 352599 single nucleotide variant NM_001429.3(EP300):c.1784C>T (p.Pro595Leu) 886057557 MedGen:C0035934,OMIM:180849,Orphanet:ORPHA353277,SNOMED CT:C0035934 22 41140163 41140163 C T 352599 single nucleotide variant NM_001429.3(EP300):c.1784C>T (p.Pro595Leu) 886057557 MedGen:C0035934,OMIM:180849,Orphanet:ORPHA353277,SNOMED CT:C0035934 22 41536167 41536167 C T 352600 single nucleotide variant NM_001429.3(EP300):c.1990A>G (p.Met664Val) 529145180 MedGen:C0035934,OMIM:180849,Orphanet:ORPHA353277,SNOMED CT:C0035934 22 41141159 41141159 A G 352600 single nucleotide variant NM_001429.3(EP300):c.1990A>G (p.Met664Val) 529145180 MedGen:C0035934,OMIM:180849,Orphanet:ORPHA353277,SNOMED CT:C0035934 22 41537163 41537163 A G 352601 single nucleotide variant NM_001429.3(EP300):c.2536C>T (p.Pro846Ser) 886057560 MedGen:C0035934,OMIM:180849,Orphanet:ORPHA353277,SNOMED CT:C0035934 22 41149917 41149917 C T 352601 single nucleotide variant NM_001429.3(EP300):c.2536C>T (p.Pro846Ser) 886057560 MedGen:C0035934,OMIM:180849,Orphanet:ORPHA353277,SNOMED CT:C0035934 22 41545921 41545921 C T 352602 deletion NM_001429.3(EP300):c.6798_6800delGCA (p.Gln2268del) 533875300 MedGen:C0035934,OMIM:180849,Orphanet:ORPHA353277,SNOMED CT:C0035934;MedGen:CN169374 22 41178509 41178511 GCA - 352602 deletion NM_001429.3(EP300):c.6798_6800delGCA (p.Gln2268del) 533875300 MedGen:C0035934,OMIM:180849,Orphanet:ORPHA353277,SNOMED CT:C0035934;MedGen:CN169374 22 41574513 41574515 GCA - 352603 single nucleotide variant NM_001429.3(EP300):c.6912C>T (p.Ser2304=) 113329190 MedGen:C0035934,OMIM:180849,Orphanet:ORPHA353277,SNOMED CT:C0035934 22 41178623 41178623 C T 352603 single nucleotide variant NM_001429.3(EP300):c.6912C>T (p.Ser2304=) 113329190 MedGen:C0035934,OMIM:180849,Orphanet:ORPHA353277,SNOMED CT:C0035934 22 41574627 41574627 C T 352604 single nucleotide variant NM_001429.3(EP300):c.6984C>A (p.Ser2328=) 200478275 MedGen:C0035934,OMIM:180849,Orphanet:ORPHA353277,SNOMED CT:C0035934 22 41178695 41178695 C A 352604 single nucleotide variant NM_001429.3(EP300):c.6984C>A (p.Ser2328=) 200478275 MedGen:C0035934,OMIM:180849,Orphanet:ORPHA353277,SNOMED CT:C0035934 22 41574699 41574699 C A 352605 single nucleotide variant NM_001429.3(EP300):c.7017C>T (p.His2339=) 759571982 MedGen:C0035934,OMIM:180849,Orphanet:ORPHA353277,SNOMED CT:C0035934 22 41178728 41178728 C T 352605 single nucleotide variant NM_001429.3(EP300):c.7017C>T (p.His2339=) 759571982 MedGen:C0035934,OMIM:180849,Orphanet:ORPHA353277,SNOMED CT:C0035934 22 41574732 41574732 C T 352606 single nucleotide variant NM_001429.3(EP300):c.7136A>G (p.Asn2379Ser) 886057571 MedGen:C0035934,OMIM:180849,Orphanet:ORPHA353277,SNOMED CT:C0035934 22 41178847 41178847 A G 352606 single nucleotide variant NM_001429.3(EP300):c.7136A>G (p.Asn2379Ser) 886057571 MedGen:C0035934,OMIM:180849,Orphanet:ORPHA353277,SNOMED CT:C0035934 22 41574851 41574851 A G 352607 single nucleotide variant NM_001429.3(EP300):c.*52C>G 542406106 MedGen:C0035934,OMIM:180849,Orphanet:ORPHA353277,SNOMED CT:C0035934 22 41179008 41179008 C G 352607 single nucleotide variant NM_001429.3(EP300):c.*52C>G 542406106 MedGen:C0035934,OMIM:180849,Orphanet:ORPHA353277,SNOMED CT:C0035934 22 41575012 41575012 C G 352608 deletion NM_001429.3(EP300):c.*745delG 532524940 MedGen:C0035934,OMIM:180849,Orphanet:ORPHA353277,SNOMED CT:C0035934 22 41179701 41179701 G - 352608 deletion NM_001429.3(EP300):c.*745delG 532524940 MedGen:C0035934,OMIM:180849,Orphanet:ORPHA353277,SNOMED CT:C0035934 22 41575705 41575705 G - 352609 single nucleotide variant NM_001429.3(EP300):c.*844G>A 532999218 MedGen:C0035934,OMIM:180849,Orphanet:ORPHA353277,SNOMED CT:C0035934 22 41575804 41575804 G A 352609 single nucleotide variant NM_001429.3(EP300):c.*844G>A 532999218 MedGen:C0035934,OMIM:180849,Orphanet:ORPHA353277,SNOMED CT:C0035934 22 41179800 41179800 G A 352610 single nucleotide variant NM_001429.3(EP300):c.*922A>C 146984033 MedGen:C0035934,OMIM:180849,Orphanet:ORPHA353277,SNOMED CT:C0035934 22 41575882 41575882 A C 352610 single nucleotide variant NM_001429.3(EP300):c.*922A>C 146984033 MedGen:C0035934,OMIM:180849,Orphanet:ORPHA353277,SNOMED CT:C0035934 22 41179878 41179878 A C 352611 single nucleotide variant NM_001429.3(EP300):c.*924T>C 149250603 MedGen:C0035934,OMIM:180849,Orphanet:ORPHA353277,SNOMED CT:C0035934 22 41575884 41575884 T C 352611 single nucleotide variant NM_001429.3(EP300):c.*924T>C 149250603 MedGen:C0035934,OMIM:180849,Orphanet:ORPHA353277,SNOMED CT:C0035934 22 41179880 41179880 T C 352612 single nucleotide variant NM_001429.3(EP300):c.*932A>C 886057585 MedGen:C0035934,OMIM:180849,Orphanet:ORPHA353277,SNOMED CT:C0035934 22 41575892 41575892 A C 352612 single nucleotide variant NM_001429.3(EP300):c.*932A>C 886057585 MedGen:C0035934,OMIM:180849,Orphanet:ORPHA353277,SNOMED CT:C0035934 22 41179888 41179888 A C 352613 deletion NM_001429.3(EP300):c.*962_*967delACACAC 886057584 MedGen:C0035934,OMIM:180849,Orphanet:ORPHA353277,SNOMED CT:C0035934 22 41575922 41575927 ACACAC - 352613 deletion NM_001429.3(EP300):c.*962_*967delACACAC 886057584 MedGen:C0035934,OMIM:180849,Orphanet:ORPHA353277,SNOMED CT:C0035934 22 41179918 41179923 ACACAC - 352614 deletion NM_001429.3(EP300):c.*1083_*1085delCTT 886057587 MedGen:C0035934,OMIM:180849,Orphanet:ORPHA353277,SNOMED CT:C0035934 22 41180039 41180041 CTT - 352614 deletion NM_001429.3(EP300):c.*1083_*1085delCTT 886057587 MedGen:C0035934,OMIM:180849,Orphanet:ORPHA353277,SNOMED CT:C0035934 22 41576043 41576045 CTT - 360506 single nucleotide variant NM_001429.3(EP300):c.4783T>G (p.Phe1595Val) 1057517732 MedGen:CN221809 22 41176250 41176250 T G 360506 single nucleotide variant NM_001429.3(EP300):c.4783T>G (p.Phe1595Val) 1057517732 MedGen:CN221809 22 41572254 41572254 T G 360539 single nucleotide variant NM_001429.3(EP300):c.5483T>C (p.Leu1828Pro) 1057518002 MedGen:CN221809 22 41177194 41177194 T C 360539 single nucleotide variant NM_001429.3(EP300):c.5483T>C (p.Leu1828Pro) 1057518002 MedGen:CN221809 22 41573198 41573198 T C 361150 duplication NM_001429.3(EP300):c.2161dupG (p.Ala721Glyfs) 1057519012 Human Phenotype Ontology:HP:0000252,MedGen:C0424688;MedGen:CN228659 22 41543870 41543870 G GG 361150 duplication NM_001429.3(EP300):c.2161dupG (p.Ala721Glyfs) 1057519012 Human Phenotype Ontology:HP:0000252,MedGen:C0424688;MedGen:CN228659 22 41147866 41147866 G GG 361071 single nucleotide variant NM_001429.3(EP300):c.1619A>G (p.Gln540Arg) 1057518835 Human Phenotype Ontology:HP:0001172,MedGen:CN130237;Human Phenotype Ontology:HP:0000273,MedGen:CN000259;Human Phenotype Ontology:HP:0011968,MedGen:C0232466;Human Phenotype Ontology:HP:0001263,MedGen:CN001157;Human Phenotype Ontology:HP:0000347,MedGen:C1866485 22 41135903 41135903 A G 361071 single nucleotide variant NM_001429.3(EP300):c.1619A>G (p.Gln540Arg) 1057518835 Human Phenotype Ontology:HP:0001172,MedGen:CN130237;Human Phenotype Ontology:HP:0000273,MedGen:CN000259;Human Phenotype Ontology:HP:0011968,MedGen:C0232466;Human Phenotype Ontology:HP:0001263,MedGen:CN001157;Human Phenotype Ontology:HP:0000347,MedGen:C1866485 22 41531907 41531907 A G 361072 single nucleotide variant NM_001429.3(EP300):c.2053+4A>T 1057518889 Human Phenotype Ontology:HP:0011451,MedGen:C2677180;Human Phenotype Ontology:HP:0001007,MedGen:C0019572;Human Phenotype Ontology:HP:0002342,MedGen:CN002126;Human Phenotype Ontology:HP:0001252,MedGen:CN001147;Human Phenotype Ontology:HP:0000545,MedGen:CN000511;Human Phenotype Ontology:HP:0004322,MedGen:C0349588;Human Phenotype Ontology:HP:0000664,MedGen:C3151660 22 41537230 41537230 A T 361072 single nucleotide variant NM_001429.3(EP300):c.2053+4A>T 1057518889 Human Phenotype Ontology:HP:0011451,MedGen:C2677180;Human Phenotype Ontology:HP:0001007,MedGen:C0019572;Human Phenotype Ontology:HP:0002342,MedGen:CN002126;Human Phenotype Ontology:HP:0001252,MedGen:CN001147;Human Phenotype Ontology:HP:0000545,MedGen:CN000511;Human Phenotype Ontology:HP:0004322,MedGen:C0349588;Human Phenotype Ontology:HP:0000664,MedGen:C3151660 22 41141226 41141226 A T

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 22 41496800 rs11090039 G A rs11090039 2.84E-04 Self-reported allergy HPOID:0002715 DOID:0060056 G intron GWASdb_trait 22 41519362 rs4822006 T C rs4822006 0.00080266 Hypertension (early onset hypertension) HPOID:0000822 DOID:10763 T intron GWASdb_trait 22 41519362 rs4822006 T C rs4822006 8.56E-05 Hemoglobin HPOID:0011902 DOID:2860 T intron GWASdb_trait 22 41530040 rs2064560 A G rs2064560 3.51E-04 Self-reported allergy HPOID:0002715 DOID:0060056 A intron GWASdb_trait 22 41537589 rs4820428 A G rs4820428 3.78E-04 Self-reported allergy HPOID:0002715 DOID:0060056 A intron GWASdb_trait 22 41540279 rs9611505 T C rs9611505 3.29E-04 Self-reported allergy HPOID:0002715 DOID:0060056 T intron GWASdb_trait 22 41548008 rs20551 A G rs20551 2.93E-04 Self-reported allergy HPOID:0002715 DOID:0060056 A missense GWASdb_trait 22 41564287 rs2057070 T C rs2057070 3.52E-04 Self-reported allergy HPOID:0002715 DOID:0060056 T intron GWASdb_trait 22 41569124 rs9611510 T C rs9611510 3.41E-04 Self-reported allergy HPOID:0002715 DOID:0060056 T intron GWASdb_trait 22 41569609 rs2076578 C T rs2076578 3.76E-05 Serum metabolites HPOID:0011111 NA C intron GWASdb_trait

Disease associated variation - OMIM Ensembl_gene_ID Approved Gene Symbol MIM Number ENSG00000100393.11 EP300 602700