Sugi Variant

Sugi Variant/EP300

EP300 — 2290 ClinVar variants

All ClinVar germline EP300 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 960 flagged for review →

149 Pathogenic · 13 Pathogenic/Likely pathogenic · 106 Likely pathogenic · 116 Conflicting · 250 Benign · 104 Benign/Likely benign · 680 Likely benign · 872 Uncertain significance

Full EP300 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 960

Variants where the independent computational evidence doesn't line up with the clinical picture — a QC signal for a second look, not a reclassification.

Predictors vs ClinVar 5

ClinVar calls these pathogenic, but the computational predictors lean tolerated — the highest-value review flag.

Predictors agree, ClinVar conflicts 64

ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.

Predicted LoF vs a conflicting call 1

ClinVar submitters conflict, and it's a predicted loss-of-function change in a gene where LoF causes disease — flagged for review, not resolved (verify NMD-escape for C-terminal truncations). Non-missense.

Predictors lean, ClinVar uncertain 463

ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification. · showing the 150 best-reviewed of 463

Predictors split 427

The independent predictors disagree with each other — read with care. · showing the 150 best-reviewed of 427

All EP300 variants

Pathogenic 149

  • p.Arg1055Ter Multiple submitters Inborn genetic diseases
  • p.Arg1312Ter Multiple submitters Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
  • p.Arg1356Ter Multiple submitters Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
  • p.Arg1462Ter Multiple submitters Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
  • p.Arg1529Ter Multiple submitters Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
  • p.Arg1645Ter Multiple submitters EP300-related disorder
  • p.Asn1236fs Multiple submitters Rubinstein-Taybi syndrome due to CREBBP mutations
  • p.Asn779fs Multiple submitters Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
  • p.Lys1228fs Multiple submitters Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
  • p.Pro742fs Multiple submitters Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
  • p.Ser457fs Multiple submitters Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
  • c.1879-12A>G Single submitter
  • c.2053+1G>C Single submitter
  • c.2817+186_3262-187delinsTG Single submitter Abnormal facial shape
  • c.3502-1G>T Single submitter
  • c.3728+5G>C Single submitter Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
  • c.3875-2A>C Single submitter colorectal cancer
  • c.4026-2A>G Single submitter Inborn genetic diseases
  • c.4026-9A>G Single submitter Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
  • c.4271_4367del Single submitter Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
  • p.Ala1359fs Single submitter Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
  • p.Ala1901Ter Single submitter Inborn genetic diseases
  • p.Ala394fs Single submitter Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
  • p.Ala627_Tyr630delinsLeuLysTrpTer Single submitter Inborn genetic diseases
  • p.Arg1281Ter Single submitter
  • p.Arg1324fs Single submitter Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
  • p.Arg1405fs Single submitter
  • p.Arg1599fs Single submitter Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
  • p.Arg202Ter Single submitter
  • p.Arg580Ter Single submitter Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
  • p.Arg626Ter Single submitter
  • p.Arg86Ter Single submitter
  • p.Asn1532fs Single submitter Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
  • p.Asn217fs Single submitter Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
  • p.Asp1004_Cys1005insTer Single submitter Rubinstein-Taybi syndrome
  • p.Asp1482fs Single submitter Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
  • p.Asp1625fs Single submitter Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
  • p.Cys1247Tyr Single submitter
  • p.Cys1653fs Single submitter Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
  • p.Cys364fs Single submitter Inborn genetic diseases
  • p.Gln1056Ter Single submitter Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
  • p.Gln107Ter Single submitter
  • p.Gln1158Ter Single submitter
  • p.Gln1209Ter Single submitter Inborn genetic diseases
  • p.Gln1455Ter Single submitter Inborn genetic diseases
  • p.Gln1489Ter Single submitter Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
  • p.Gln160Ter Single submitter EP300-related disorder
  • p.Gln1843fs Single submitter Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
  • p.Gln1992fs Single submitter
  • p.Gln2108fs Single submitter Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
  • p.Gln2232Ter Single submitter Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
  • p.Gln2247fs Single submitter Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
  • p.Gln2281fs Single submitter
  • p.Gln2361Ter Single submitter
  • p.Gln2408fs Single submitter Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
  • p.Gln356Ter Single submitter Inborn genetic diseases
  • p.Gln398Ter Single submitter Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
  • p.Gln458Ter Single submitter Inborn genetic diseases
  • p.Gln483Ter Single submitter Inborn genetic diseases
  • p.Gln577fs Single submitter Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
  • p.Gln722Ter Single submitter
  • p.Gln769Ter Single submitter
  • p.Gln793Ter Single submitter
  • p.Gln829Ter Single submitter
  • p.Gln917Ter Single submitter Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
  • p.Glu1014fs Single submitter
  • p.Glu1229fs Single submitter Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
  • p.Glu1229Ter Single submitter
  • p.Glu1246fs Single submitter Inborn genetic diseases
  • p.Glu1303fs Single submitter Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
  • p.Glu1505Ter Single submitter Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
  • p.Glu1526fs Single submitter Inborn genetic diseases
  • p.Glu2252Ter Single submitter Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
  • p.Glu995Ter Single submitter Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
  • p.Gly1368fs Single submitter
  • p.Gly1626fs Single submitter
  • p.Gly168fs Single submitter microcephaly
  • p.Gly194fs Single submitter Inborn genetic diseases
  • p.Gly197Ter Single submitter Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
  • p.Gly2034fs Single submitter Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
  • p.His1434Leu Single submitter
  • p.Ile1121fs Single submitter
  • p.Ile1457_Lys1459delinsMet Single submitter Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
  • p.Ile1612fs Single submitter Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
  • p.Leu1276fs Single submitter Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
  • p.Leu1398fs Single submitter
  • p.Leu1398Phe Single submitter
  • p.Leu1495Ter Single submitter intellectual disability
  • p.Leu2265fs Single submitter Inborn genetic diseases
  • p.Leu36fs Single submitter Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
  • p.Lys1024fs Single submitter Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
  • p.Lys1287fs Single submitter Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
  • p.Lys1407delinsThrTer Single submitter Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
  • p.Lys1551fs Single submitter Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
  • p.Met1470fs Single submitter Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
  • p.Met503fs Single submitter Inborn genetic diseases
  • p.Met506fs Single submitter
  • p.Met605fs Single submitter Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
  • p.Phe1504Cys Single submitter Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
  • p.Phe1595Ile Single submitter colorectal cancer
  • p.Phe1596fs Single submitter Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
  • p.Phe37fs Single submitter Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
  • p.Pro1907fs Single submitter
  • p.Pro1961fs Single submitter Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
  • p.Pro2367fs Single submitter Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
  • p.Pro91_Asn92insTer Single submitter
  • p.Pro91fs Single submitter Inborn genetic diseases
  • p.Ser1650fs Single submitter Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
  • p.Ser1897fs Single submitter Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
  • p.Ser195Ter Single submitter Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
  • p.Ser24fs Single submitter Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
  • p.Ser848fs Single submitter
  • p.Ser959Ter Single submitter Inborn genetic diseases
  • p.Thr1225fs Single submitter Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
  • p.Thr1724fs Single submitter Inborn genetic diseases
  • p.Thr1864fs Single submitter Inborn genetic diseases
  • p.Thr278fs Single submitter colorectal carcinoma
  • p.Thr329fs Single submitter
  • p.Trp1436Ter Single submitter
  • p.Tyr1162Ter Single submitter Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
  • p.Tyr1198_Glu1202delinsTer Single submitter
  • p.Tyr1355Ter Single submitter Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
  • p.Tyr1397fs Single submitter
  • p.Tyr751fs Single submitter Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
  • p.Val1138fs Single submitter
  • p.Val1613fs Single submitter Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
  • p.Val2036fs Single submitter
  • p.Val279fs Single submitter Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
  • c.2242_2248del No assertion criteria Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
  • c.3476_3501+41del No assertion criteria EP300-related disorder
  • c.730_1760del No assertion criteria Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
  • p.Ala536_Ile537delinsTyrValGluProTer No assertion criteria Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
  • p.Arg1831del No assertion criteria Menke-Hennekam syndrome 2
  • p.Arg648Ter No assertion criteria Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
  • p.Gln1464Ter No assertion criteria Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
  • p.Gln485fs No assertion criteria microcephaly
  • p.Gln653Ter No assertion criteria Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
  • p.Gln722fs No assertion criteria Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
  • p.Gln912Ter No assertion criteria Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
  • p.Glu1147fs No assertion criteria Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
  • p.Gly1988fs No assertion criteria Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
  • p.Gly213fs No assertion criteria Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
  • p.Leu443fs No assertion criteria
  • p.Met1124fs No assertion criteria Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
  • p.Met165fs No assertion criteria Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
  • p.Pro2221Gln No assertion criteria colon carcinoma ⚠
  • p.Ter2415Trp No assertion criteria Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
  • p.Tyr257_Gly262del No assertion criteria Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
  • p.Tyr475fs No assertion criteria Rubinstein-Taybi syndrome due to EP300 haploinsufficiency

Pathogenic/Likely pathogenic 13

  • c.1282+1G>A Multiple submitters Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
  • c.3671+1G>A Multiple submitters EP300-related disorder
  • c.3857A>G Multiple submitters EP300-related disorder ⚠
  • p.Arg200Ter Multiple submitters Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
  • p.Arg2263Ter Multiple submitters Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
  • p.Asn2305fs Multiple submitters Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
  • p.His2324fs Multiple submitters
  • p.Ile2100fs Multiple submitters Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
  • p.Met1588Thr Multiple submitters Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
  • p.Phe1595Val Multiple submitters EP300-related disorder
  • p.Ser35fs Multiple submitters colorectal cancer
  • p.Thr887Ile Multiple submitters Rubinstein-Taybi syndrome due to EP300 haploinsufficiency ⚠
  • c.3262-2A>G No assertion criteria Rubinstein-Taybi syndrome due to CREBBP mutations

Likely pathogenic 106

  • p.Arg1829Cys Multiple submitters Inborn genetic diseases
  • p.Gln1953Ter Multiple submitters Inborn genetic diseases
  • c.1878+1G>A Single submitter colorectal cancer
  • c.2132-1G>A Single submitter Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
  • c.2818-1G>T Single submitter Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
  • c.2998-1G>A Single submitter Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
  • c.2998-3_2998-2del Single submitter Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
  • c.3142+2T>A Single submitter Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
  • c.3502-2A>G Single submitter Inborn genetic diseases
  • c.3671+5_3671+8del Single submitter
  • c.3671+5G>C Single submitter Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
  • c.3729-1G>T Single submitter Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
  • c.3729-2A>G Single submitter Menke-Hennekam syndrome 2
  • c.4026-1G>T Single submitter Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
  • c.4173-2A>G Single submitter Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
  • c.4287-1G>T Single submitter Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
  • c.4452+5G>T Single submitter Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
  • c.4453-10_4453-8delinsAAAC Single submitter
  • p.Ala861Val Single submitter Rubinstein-Taybi syndrome due to EP300 haploinsufficiency ⚠
  • p.Arg1197Trp Single submitter Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
  • p.Arg1297Ter Single submitter
  • p.Arg1565Ter Single submitter Rubinstein-Taybi syndrome due to CREBBP mutations
  • p.Arg1627Trp Single submitter Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
  • p.Arg1829Pro Single submitter Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
  • p.Arg1831Ser Single submitter Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
  • p.Arg1831Thr Single submitter Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
  • p.Arg2330fs Single submitter Inborn genetic diseases
  • p.Arg580Gln Single submitter Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
  • p.Asn2370fs Single submitter Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
  • p.Asp1069Asn Single submitter ⚠
  • p.Asp1217Asn Single submitter
  • p.Asp1507Glu Single submitter Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
  • p.Cys1250Tyr Single submitter Rubinstein-Taybi syndrome due to CREBBP mutations
  • p.Cys1683Arg Single submitter Neurodevelopmental delay
  • p.Cys1692Arg Single submitter
  • p.Cys1692Gly Single submitter
  • p.Cys1692Ser Single submitter
  • p.Cys1790del Single submitter Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
  • p.Cys364Ter Single submitter
  • p.Cys388Ter Single submitter
  • p.Gln1151Ter Single submitter EP300-related disorder
  • p.Gln1379Glu Single submitter
  • p.Gln1824Pro Single submitter Menke-Hennekam syndrome 2
  • p.Gln1862fs Single submitter Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
  • p.Gln1870fs Single submitter Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
  • p.Gln2020fs Single submitter
  • p.Gln2152Ter Single submitter Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
  • p.Gln2178Ter Single submitter
  • p.Gln2290Ter Single submitter
  • p.Gln2408Arg Single submitter ⚠
  • p.Gln570fs Single submitter Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
  • p.Gln641Lys Single submitter Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
  • p.Gln821fs Single submitter Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
  • p.Glu1022_Ile1023insTer Single submitter Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
  • p.Glu1514Gln Single submitter
  • p.Glu1981Ter Single submitter Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
  • p.Gly1375Val Single submitter Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
  • p.Gly1860fs Single submitter
  • p.Gly1966fs Single submitter Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
  • p.Gly2204fs Single submitter Inborn genetic diseases
  • p.His1434Arg Single submitter
  • p.His1451Tyr Single submitter Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
  • p.Leu1310fs Single submitter Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
  • p.Leu1631Arg Single submitter Neurodevelopmental abnormality
  • p.Leu1633Arg Single submitter Menke-Hennekam syndrome 2
  • p.Leu1828Pro Single submitter
  • p.Leu1918fs Single submitter Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
  • p.Leu2041fs Single submitter Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
  • p.Leu2058fs Single submitter Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
  • p.Leu2303fs Single submitter Inborn genetic diseases
  • p.Leu633Pro Single submitter
  • p.Lys1046fs Single submitter Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
  • p.Lys243Ter Single submitter Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
  • p.Met1339Thr Single submitter
  • p.Met1965fs Single submitter Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
  • p.Met2231fs Single submitter Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
  • p.Pro1440Thr Single submitter Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
  • p.Pro1917fs Single submitter Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
  • p.Pro1958fs Single submitter
  • p.Pro689fs Single submitter Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
  • p.Pro987fs Single submitter Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
  • p.Ser124fs Single submitter Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
  • p.Ser2366fs Single submitter Inborn genetic diseases
  • p.Ser2371Thr Single submitter Menke-Hennekam syndrome 2 ⚠
  • p.Ser50fs Single submitter Rubinstein-Taybi syndrome due to CREBBP mutations
  • p.Ter2415Gln Single submitter
  • p.Thr1357fs Single submitter EP300-related disorder
  • p.Thr1411Ile Single submitter Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
  • p.Thr371Ala Single submitter Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
  • p.Tyr1191Ter Single submitter Rubinstein-Taybi syndrome due to CREBBP mutations
  • p.Val1245fs Single submitter Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
  • p.Val2273fs Single submitter Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
  • p.Ala721fs No assertion criteria microcephaly
  • p.Arg1391Ser No assertion criteria Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
  • p.Arg1527fs No assertion criteria EP300-related disorder
  • p.Asn1752Ser No assertion criteria EP300-related disorder ⚠
  • p.Gln2005fs No assertion criteria Rubinstein-Taybi syndrome due to CREBBP mutations
  • p.Gln2066Ter No assertion criteria Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
  • p.Gln2191Ter No assertion criteria EP300-related disorder
  • p.Gln2212fs No assertion criteria EP300-related disorder
  • p.Lys1047fs No assertion criteria Menke-Hennekam syndrome 2
  • p.Lys386fs No assertion criteria Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
  • p.Pro16fs No assertion criteria EP300-related disorder
  • p.Tyr1446Cys No assertion criteria Rare genetic intellectual disability
  • p.Val1245del No assertion criteria Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
  • p.Val1475_Ser1476delinsTer No assertion criteria Rubinstein-Taybi syndrome due to EP300 haploinsufficiency

Conflicting classifications of pathogenicity 116

  • c.1760+20C>T Single submitter Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
  • c.2997+1G>A Single submitter ⚠
  • c.2998-12G>A Single submitter Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
  • c.3591-6C>T Single submitter Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
  • c.5061+10G>A Single submitter Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
  • p.2146PQQQ[1] Single submitter Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
  • p.Ala1412Val Single submitter Rubinstein-Taybi syndrome due to EP300 haploinsufficiency ⚠
  • p.Ala1586Ser Single submitter Rubinstein-Taybi syndrome due to EP300 haploinsufficiency ⚠
  • p.Ala929= Single submitter Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
  • p.Arg1187His Single submitter Rubinstein-Taybi syndrome due to EP300 haploinsufficiency ⚠
  • p.Arg1281Gln Single submitter Inborn genetic diseases ⚠
  • p.Arg1342= Single submitter Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
  • p.Arg1405His Single submitter Rubinstein-Taybi syndrome due to EP300 haploinsufficiency ⚠
  • p.Arg1478His Single submitter Inborn genetic diseases ⚠
  • p.Arg1749Trp Single submitter Rubinstein-Taybi syndrome due to EP300 haploinsufficiency ⚠
  • p.Arg1837Gln Single submitter Rubinstein-Taybi syndrome due to EP300 haploinsufficiency ⚠
  • p.Arg2317Gln Single submitter Rubinstein-Taybi syndrome due to EP300 haploinsufficiency ⚠
  • p.Arg695Cys Single submitter Rubinstein-Taybi syndrome due to EP300 haploinsufficiency ⚠
  • p.Arg915Cys Single submitter Rubinstein-Taybi syndrome due to EP300 haploinsufficiency ⚠
  • p.Asn1575Ser Single submitter Rubinstein-Taybi syndrome due to EP300 haploinsufficiency ⚠
  • p.Asn1717Ser Single submitter Inborn genetic diseases ⚠
  • p.Asn2096Lys Single submitter Inborn genetic diseases ⚠
  • p.Asn2173Thr Single submitter Rubinstein-Taybi syndrome due to EP300 haploinsufficiency ⚠
  • p.Asn2209_Gln2213delinsLys Single submitter Inborn genetic diseases
  • p.Asn2238Asp Single submitter Inborn genetic diseases ⚠
  • p.Asn2379Ser Single submitter Inborn genetic diseases ⚠
  • p.Asn248His Single submitter Rubinstein-Taybi syndrome due to EP300 haploinsufficiency ⚠
  • p.Asn365Ser Single submitter Rubinstein-Taybi syndrome due to EP300 haploinsufficiency ⚠
  • p.Asn746Ser Single submitter Rubinstein-Taybi syndrome due to EP300 haploinsufficiency ⚠
  • p.Asn760Ile Single submitter Rubinstein-Taybi syndrome due to EP300 haploinsufficiency ⚠
  • p.Cys1272Ser Single submitter Menke-Hennekam syndrome 2 ⚠
  • p.Gln128Leu Single submitter EP300-related disorder ⚠
  • p.Gln1904Pro Single submitter Rubinstein-Taybi syndrome due to EP300 haploinsufficiency ⚠
  • p.Gln2192_Gln2195del Single submitter Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
  • p.Gln309Pro Single submitter Inborn genetic diseases ⚠
  • p.Gln485Lys Single submitter ⚠
  • p.Glu1026Asp Single submitter Inborn genetic diseases ⚠
  • p.Gly152Ser Single submitter Rubinstein-Taybi syndrome due to EP300 haploinsufficiency ⚠
  • p.Gly199Ala Single submitter Rubinstein-Taybi syndrome due to EP300 haploinsufficiency ⚠
  • p.Gly2105= Single submitter Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
  • p.Gly2216Arg Single submitter Inborn genetic diseases ⚠
  • p.Gly232Ala Single submitter Rubinstein-Taybi syndrome due to CREBBP mutations ⚠
  • p.Gly750Asp Single submitter Rubinstein-Taybi syndrome due to EP300 haploinsufficiency ⚠
  • p.His1449= Single submitter Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
  • p.His1944Gln Single submitter Rubinstein-Taybi syndrome due to EP300 haploinsufficiency ⚠
  • p.Ile1208Met Single submitter Rubinstein-Taybi syndrome due to EP300 haploinsufficiency ⚠
  • p.Ile1419Thr Single submitter Rubinstein-Taybi syndrome due to EP300 haploinsufficiency ⚠
  • p.Ile196Val Single submitter Inborn genetic diseases ⚠
  • p.Ile807Val Single submitter Rubinstein-Taybi syndrome due to EP300 haploinsufficiency ⚠
  • p.Leu2265Phe Single submitter Rubinstein-Taybi syndrome due to EP300 haploinsufficiency ⚠
  • p.Lys1291Thr Single submitter Rubinstein-Taybi syndrome due to EP300 haploinsufficiency ⚠
  • p.Lys489Asn Single submitter EP300-related disorder ⚠
  • p.Met121Thr Single submitter Inborn genetic diseases ⚠
  • p.Met153Thr Single submitter Rubinstein-Taybi syndrome due to EP300 haploinsufficiency ⚠
  • p.Met163Val Single submitter Inborn genetic diseases ⚠
  • p.Met165Ile Single submitter Rubinstein-Taybi syndrome due to EP300 haploinsufficiency ⚠
  • p.Met192Leu Single submitter Inborn genetic diseases ⚠
  • p.Met1972Val Single submitter Rubinstein-Taybi syndrome due to EP300 haploinsufficiency ⚠
  • p.Met2106_Gly2112del Single submitter Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
  • p.Met2158Thr Single submitter Rubinstein-Taybi syndrome due to EP300 haploinsufficiency ⚠
  • p.Met2372Val Single submitter EP300-related disorder ⚠
  • p.Met244Leu Single submitter Inborn genetic diseases ⚠
  • p.Met247Val Single submitter Rubinstein-Taybi syndrome due to EP300 haploinsufficiency ⚠
  • p.Met503Thr Single submitter Rubinstein-Taybi syndrome due to EP300 haploinsufficiency ⚠
  • p.Met514Val Single submitter Rubinstein-Taybi syndrome due to EP300 haploinsufficiency ⚠
  • p.Met664Thr Single submitter Rubinstein-Taybi syndrome due to EP300 haploinsufficiency ⚠
  • p.Met669Val Single submitter Rubinstein-Taybi syndrome due to EP300 haploinsufficiency ⚠
  • p.Met70Val Single submitter Rubinstein-Taybi syndrome due to EP300 haploinsufficiency ⚠
  • p.Phe1205Leu Single submitter Inborn genetic diseases ⚠
  • p.Phe1373Cys Single submitter Inborn genetic diseases ⚠
  • p.Pro11Ser Single submitter EP300-related disorder ⚠
  • p.Pro157= Single submitter Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
  • p.Pro1866Leu Single submitter Rubinstein-Taybi syndrome due to EP300 haploinsufficiency ⚠
  • p.Pro1885Leu Single submitter Rubinstein-Taybi syndrome due to EP300 haploinsufficiency ⚠
  • p.Pro1895Ser Single submitter Inborn genetic diseases ⚠
  • p.Pro1957Ser Single submitter Rubinstein-Taybi syndrome due to EP300 haploinsufficiency ⚠
  • p.Pro1976Ser Single submitter Menke-Hennekam syndrome 2 ⚠
  • p.Pro1986Leu Single submitter Rubinstein-Taybi syndrome due to EP300 haploinsufficiency ⚠
  • p.Pro2001Ser Single submitter Rubinstein-Taybi syndrome due to EP300 haploinsufficiency ⚠
  • p.Pro2031Ala Single submitter Rubinstein-Taybi syndrome due to EP300 haploinsufficiency ⚠
  • p.Pro2031Leu Single submitter Rubinstein-Taybi syndrome due to EP300 haploinsufficiency ⚠
  • p.Pro2031Ser Single submitter Inborn genetic diseases ⚠
  • p.Pro2176Ser Single submitter Rubinstein-Taybi syndrome due to EP300 haploinsufficiency ⚠
  • p.Pro2220Leu Single submitter ⚠
  • p.Pro2323Ser Single submitter EP300-related disorder ⚠
  • p.Pro2367Leu Single submitter Rubinstein-Taybi syndrome due to EP300 haploinsufficiency ⚠
  • p.Pro451His Single submitter Rubinstein-Taybi syndrome due to EP300 haploinsufficiency ⚠
  • p.Pro481Leu Single submitter Rubinstein-Taybi syndrome due to EP300 haploinsufficiency ⚠
  • p.Pro673= Single submitter Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
  • p.Pro731Ser Single submitter Rubinstein-Taybi syndrome due to EP300 haploinsufficiency ⚠
  • p.Pro825Ser Single submitter ⚠
  • p.Pro855Ser Single submitter Inborn genetic diseases ⚠
  • p.Pro905Thr Single submitter Inborn genetic diseases ⚠
  • p.Pro930Leu Single submitter Inborn genetic diseases ⚠
  • p.Ser1220Cys Single submitter Rubinstein-Taybi syndrome due to EP300 haploinsufficiency ⚠
  • p.Ser124= Single submitter Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
  • p.Ser2320Pro Single submitter Inborn genetic diseases ⚠
  • p.Ser2407Leu Single submitter Rubinstein-Taybi syndrome due to EP300 haploinsufficiency ⚠
  • p.Ser35Ala Single submitter Rubinstein-Taybi syndrome due to EP300 haploinsufficiency ⚠
  • p.Ser959Ile Single submitter Rubinstein-Taybi syndrome due to EP300 haploinsufficiency ⚠
  • p.Thr1035= Single submitter Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
  • p.Thr1724= Single submitter Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
  • p.Thr258Ala Single submitter Inborn genetic diseases ⚠
  • p.Thr576Asn Single submitter Inborn genetic diseases ⚠
  • p.Thr594Met Single submitter Rubinstein-Taybi syndrome due to EP300 haploinsufficiency ⚠
  • p.Thr865Ile Single submitter Rubinstein-Taybi syndrome due to EP300 haploinsufficiency ⚠
  • p.Thr957Ser Single submitter Rubinstein-Taybi syndrome due to EP300 haploinsufficiency ⚠
  • p.Thr992Asn Single submitter Rubinstein-Taybi syndrome due to EP300 haploinsufficiency ⚠
  • p.Val1480Ile Single submitter Inborn genetic diseases ⚠
  • p.Val2217Ile Single submitter Rubinstein-Taybi syndrome due to EP300 haploinsufficiency ⚠
  • p.Val435Ile Single submitter Menke-Hennekam syndrome 2 ⚠
  • p.Val445Glu Single submitter Rubinstein-Taybi syndrome due to EP300 haploinsufficiency ⚠
  • p.Val456Ile Single submitter Menke-Hennekam syndrome 2 ⚠
  • p.Val486Met Single submitter Rubinstein-Taybi syndrome due to EP300 haploinsufficiency ⚠
  • p.Val698Ala Single submitter Rubinstein-Taybi syndrome due to EP300 haploinsufficiency ⚠
  • p.Asp1622Asn No assertion criteria Rubinstein-Taybi syndrome due to EP300 haploinsufficiency ⚠

Benign 250

  • c.1168+18G>A Multiple submitters Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
  • c.1168+7G>C Multiple submitters Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
  • c.1283-16C>T Multiple submitters Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
  • c.1283-8T>C Multiple submitters Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
  • c.1528+66T>C Multiple submitters
  • c.1878+59T>C Multiple submitters
  • c.1878+86A>T Multiple submitters
  • c.2053+8G>T Multiple submitters Menke-Hennekam syndrome 2
  • c.2131+18T>A Multiple submitters Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
  • c.2132-120G>A Multiple submitters
  • c.2241+33C>G Multiple submitters
  • c.2242-83G>A Multiple submitters
  • c.2379+113T>A Multiple submitters
  • c.2380-15T>C Multiple submitters Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
  • c.2997+12G>A Multiple submitters Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
  • c.3142+21G>A Multiple submitters
  • c.3143-45C>T Multiple submitters
  • c.3143-9T>C Multiple submitters Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
  • c.3502-13G>A Multiple submitters Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
  • c.3591-50G>A Multiple submitters
  • c.3875-166T>C Multiple submitters
  • c.4026-17C>A Multiple submitters Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
  • c.4173-222A>G Multiple submitters
  • c.4286+33T>C Multiple submitters
  • c.4452+20C>T Multiple submitters Menke-Hennekam syndrome 2
  • c.4453-23T>C Multiple submitters Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
  • c.4618-18C>T Multiple submitters Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
  • c.4779+99G>A Multiple submitters
  • c.5061+34C>G Multiple submitters
  • c.5061+36C>T Multiple submitters
  • c.5061+50T>C Multiple submitters
  • c.5061+9C>T Multiple submitters Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
  • c.730-18_730-9del Multiple submitters Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
  • c.906+99A>G Multiple submitters
  • c.94+108C>A Multiple submitters
  • c.94+13A>G Multiple submitters Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
  • c.95-16T>C Multiple submitters Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
  • c.95-97G>T Multiple submitters
  • c.*10GTA[1] Multiple submitters
  • p.Ala1437= Multiple submitters Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
  • p.Ala348= Multiple submitters Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
  • p.Ala856= Multiple submitters Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
  • p.Arg1821= Multiple submitters Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
  • p.Cys1142= Multiple submitters Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
  • p.Cys1753= Multiple submitters Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
  • p.Gln1116= Multiple submitters Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
  • p.Gln2223Pro Multiple submitters Rubinstein-Taybi syndrome due to EP300 haploinsufficiency ⚠
  • p.Gln2225= Multiple submitters Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
  • p.Gln447= Multiple submitters Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
  • p.Gly1179= Multiple submitters Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
  • p.Gly1903= Multiple submitters Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
  • p.Gly211Ser Multiple submitters Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
  • p.Gly314= Multiple submitters Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
  • p.Ile859Thr Multiple submitters Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
  • p.Ile997Val Multiple submitters Menke-Hennekam syndrome 2
  • p.Leu1054= Multiple submitters Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
  • p.Leu1600Val Multiple submitters Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
  • p.Leu1788= Multiple submitters Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
  • p.Ser1757= Multiple submitters Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
  • p.Thr1010= Multiple submitters Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
  • p.Thr1061= Multiple submitters Menke-Hennekam syndrome 2
  • p.Thr1533= Multiple submitters Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
  • p.Thr778= Multiple submitters Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
  • p.Val2124= Multiple submitters Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
  • c.1168+185A>G Single submitter
  • c.1168+20T>C Single submitter Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
  • c.1282+240C>A Single submitter
  • c.1282+267dup Single submitter
  • c.1283-19dup Single submitter Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
  • c.1283-6C>G Single submitter Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
  • c.1623-302T>C Single submitter
  • c.1761-34A>T Single submitter
  • c.1878+19dup Single submitter Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
  • c.1879-150A>G Single submitter
  • c.2053+18T>C Single submitter Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
  • c.2053+42A>G Single submitter
  • c.2131+18_2131+19inv Single submitter Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
  • c.2131+24dup Single submitter Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
  • c.2131+45G>A Single submitter
  • c.2132-256A>T Single submitter
  • c.2132-328G>T Single submitter
  • c.2241+217C>T Single submitter
  • c.2242-4del Single submitter
  • c.2242-4dup Single submitter
  • c.2379+114A>T Single submitter
  • c.2379+154_2379+156del Single submitter
  • c.2380-142G>A Single submitter
  • c.2380-154G>C Single submitter
  • c.2380-36T>C Single submitter
  • c.2817+174T>G Single submitter
  • c.2818-157dup Single submitter
  • c.2998-14dup Single submitter Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
  • c.3143-5_3143-4dup Single submitter Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
  • c.3143-6_3143-4dup Single submitter Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
  • c.3261+126del Single submitter
  • c.3261+126dup Single submitter
  • c.3261+172G>A Single submitter
  • c.3261+209G>T Single submitter
  • c.3262-13C>T Single submitter Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
  • c.3262-247T>G Single submitter
  • c.3501+270T>C Single submitter
  • c.3501+43A>G Single submitter
  • c.3590+186C>T Single submitter
  • c.3591-212dup Single submitter
  • c.3671+251dup Single submitter
  • c.3672-196T>C Single submitter
  • c.3672-291A>G Single submitter
  • c.3728+212T>G Single submitter
  • c.3806+3A>G Single submitter Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
  • c.4173-39A>C Single submitter
  • c.4286+207A>G Single submitter
  • c.4286+22C>T Single submitter
  • c.4286+23T>C Single submitter
  • c.4286+29T>C Single submitter
  • c.4287-50T>G Single submitter
  • c.4452+102_4452+108del Single submitter
  • c.4452+106_4452+108dup Single submitter
  • c.4452+107_4452+108dup Single submitter
  • c.4452+108del Single submitter
  • c.4452+108dup Single submitter
  • c.4452+153C>T Single submitter
  • c.4452+248A>G Single submitter
  • c.4452+293C>T Single submitter
  • c.4453-318G>A Single submitter
  • c.4618-18_4618-17delinsTC Single submitter Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
  • c.4618-51A>G Single submitter
  • c.4779+283T>C Single submitter
  • c.4780-41C>T Single submitter
  • c.5061+37C>T Single submitter
  • c.730-113C>G Single submitter
  • c.730-151T>C Single submitter
  • c.730-311G>A Single submitter
  • c.730-44A>G Single submitter
  • c.906+187A>G Single submitter
  • c.907-17_907-8del Single submitter
  • c.94+260G>C Single submitter
  • c.94+41C>T Single submitter
  • c.*137C>T Single submitter
  • c.*24G>A Single submitter
  • c.*47_*49del Single submitter
  • p.Ala1328= Single submitter Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
  • p.Ala1412= Single submitter Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
  • p.Ala171Val Single submitter Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
  • p.Ala1935= Single submitter Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
  • p.Ala2197= Single submitter Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
  • p.Ala2248Val Single submitter Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
  • p.Ala2259= Single submitter Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
  • p.Ala2289= Single submitter Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
  • p.Ala2377Thr Single submitter Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
  • p.Ala27Val Single submitter Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
  • p.Ala610= Single submitter Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
  • p.Ala661= Single submitter Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
  • p.Ala74= Single submitter Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
  • p.Arg1015= Single submitter Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
  • p.Arg1312= Single submitter Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
  • p.Arg1831= Single submitter Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
  • p.Arg202Gln Single submitter Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
  • p.Arg86Gln Single submitter Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
  • p.Asn2379His Single submitter Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
  • p.Asp1628= Single submitter Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
  • p.Asp2181= Single submitter Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
  • p.Asp2392Asn Single submitter Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
  • p.Asp2398Asn Single submitter Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
  • p.Cys1250= Single submitter Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
  • p.Cys1621= Single submitter Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
  • p.Cys1782= Single submitter Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
  • p.Gln1230= Single submitter Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
  • p.Gln1844= Single submitter Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
  • p.Gln2068= Single submitter Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
  • p.Gln2149= Single submitter Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
  • p.Gln2232= Single submitter Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
  • p.Gln2369Arg Single submitter Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
  • p.Gln311= Single submitter Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
  • p.Gln321= Single submitter Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
  • p.Gln483His Single submitter Rubinstein-Taybi syndrome due to EP300 haploinsufficiency ⚠
  • p.Gln874His Single submitter Rubinstein-Taybi syndrome due to EP300 haploinsufficiency ⚠
  • p.Gln892= Single submitter Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
  • p.Gln912His Single submitter Rubinstein-Taybi syndrome due to EP300 haploinsufficiency ⚠
  • p.Glu1640= Single submitter Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
  • p.Glu1672= Single submitter Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
  • p.Glu52= Single submitter Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
  • p.Glu975= Single submitter Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
  • p.Gly137Ala Single submitter Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
  • p.Gly2034= Single submitter Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
  • p.Gly359= Single submitter Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
  • p.Gly69Asp Single submitter Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
  • p.Gly752= Single submitter Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
  • p.Gly96Glu Single submitter Rubinstein-Taybi syndrome due to EP300 haploinsufficiency ⚠
  • p.His349= Single submitter Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
  • p.Ile637= Single submitter Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
  • p.Leu1398= Single submitter Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
  • p.Leu1563Val Single submitter Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
  • p.Leu2406Phe Single submitter Rubinstein-Taybi syndrome due to EP300 haploinsufficiency ⚠
  • p.Leu270Arg Single submitter Rubinstein-Taybi syndrome due to EP300 haploinsufficiency ⚠
  • p.Lys1045= Single submitter Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
  • p.Lys1094= Single submitter Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
  • p.Met2015Val Single submitter Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
  • p.Met205Ile Single submitter Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
  • p.Met664Val Single submitter Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
  • p.Phe1149= Single submitter Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
  • p.Phe2211= Single submitter Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
  • p.Pro11= Single submitter Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
  • p.Pro1571= Single submitter Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
  • p.Pro175Leu Single submitter Rubinstein-Taybi syndrome due to EP300 haploinsufficiency ⚠
  • p.Pro1802= Single submitter Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
  • p.Pro1895= Single submitter Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
  • p.Pro1911del Single submitter Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
  • p.Pro1958= Single submitter Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
  • p.Pro1958Leu Single submitter Rubinstein-Taybi syndrome due to EP300 haploinsufficiency ⚠
  • p.Pro2003Thr Single submitter Rubinstein-Taybi syndrome due to EP300 haploinsufficiency ⚠
  • p.Pro2064= Single submitter Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
  • p.Pro21= Single submitter Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
  • p.Pro2214Leu Single submitter Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
  • p.Pro2337= Single submitter Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
  • p.Pro2358= Single submitter Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
  • p.Pro250= Single submitter Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
  • p.Pro595= Single submitter Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
  • p.Pro727= Single submitter Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
  • p.Pro802Leu Single submitter Rubinstein-Taybi syndrome due to EP300 haploinsufficiency ⚠
  • p.Pro840= Single submitter Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
  • p.Pro91Ser Single submitter Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
  • p.Pro972Leu Single submitter Rubinstein-Taybi syndrome due to EP300 haploinsufficiency ⚠
  • p.Pro994= Single submitter Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
  • p.Pro994Leu Single submitter Rubinstein-Taybi syndrome due to EP300 haploinsufficiency ⚠
  • p.Ser1212= Single submitter Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
  • p.Ser1396= Single submitter Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
  • p.Ser1534= Single submitter Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
  • p.Ser1882Gly Single submitter Rubinstein-Taybi syndrome due to EP300 haploinsufficiency ⚠
  • p.Ser2126= Single submitter Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
  • p.Ser2374Ala Single submitter Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
  • p.Ser285Pro Single submitter Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
  • p.Ser384= Single submitter Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
  • p.Ser545Asn Single submitter Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
  • p.Ser800Ala Single submitter Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
  • p.Ser916Thr Single submitter Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
  • p.Thr1332= Single submitter Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
  • p.Thr1878Asn Single submitter ⚠
  • p.Thr1909= Single submitter Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
  • p.Thr1913Pro Single submitter Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
  • p.Thr2117= Single submitter Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
  • p.Thr2174= Single submitter Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
  • p.Thr371= Single submitter Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
  • p.Thr858Ile Single submitter Rubinstein-Taybi syndrome due to EP300 haploinsufficiency ⚠
  • p.Tyr1397= Single submitter Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
  • p.Val1271Ile Single submitter Rubinstein-Taybi syndrome due to EP300 haploinsufficiency ⚠
  • p.Val2036= Single submitter Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
  • p.Val2140Ile Single submitter Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
  • p.Val2307= Single submitter Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
  • p.Val835= Single submitter Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
  • c.2242-5_2242-4dup No assertion criteria EP300-related disorder

Benign/Likely benign 104

  • c.1623-20T>C Multiple submitters Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
  • c.1878+9C>G Multiple submitters Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
  • c.2054-3T>C Multiple submitters Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
  • c.2131+17A>T Multiple submitters Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
  • c.2242-8T>C Multiple submitters Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
  • c.2380-18T>C Multiple submitters Rubinstein-Taybi syndrome due to CREBBP mutations
  • c.2998-3del Multiple submitters Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
  • c.3143-4del Multiple submitters Inborn genetic diseases
  • c.3143-4dup Multiple submitters Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
  • c.3502-9C>A Multiple submitters Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
  • c.4026-7T>C Multiple submitters Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
  • c.4779+18A>G Multiple submitters Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
  • c.907-10T>C Multiple submitters Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
  • p.Ala108= Multiple submitters Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
  • p.Ala1853= Multiple submitters Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
  • p.Ala2138= Multiple submitters Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
  • p.Ala2138Val Multiple submitters Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
  • p.Ala2390Thr Multiple submitters Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
  • p.Ala536= Multiple submitters Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
  • p.Ala783Val Multiple submitters Inborn genetic diseases
  • p.Arg15= Multiple submitters Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
  • p.Arg2317= Multiple submitters Menke-Hennekam syndrome 2
  • p.Arg915His Multiple submitters Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
  • p.Asn193= Multiple submitters Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
  • p.Asn2405Asp Multiple submitters Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
  • p.Asn251Ser Multiple submitters Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
  • p.Asn963= Multiple submitters Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
  • p.Gln2030= Multiple submitters Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
  • p.Gln2212= Multiple submitters Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
  • p.Gln2268del Multiple submitters Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
  • p.Gln2288Arg Multiple submitters Inborn genetic diseases
  • p.Gln2306Arg Multiple submitters Inborn genetic diseases
  • p.Gln918His Multiple submitters Inborn genetic diseases ⚠
  • p.Gly2139= Multiple submitters Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
  • p.Gly2243= Multiple submitters Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
  • p.Gly226= Multiple submitters Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
  • p.Gly238Asp Multiple submitters Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
  • p.Gly787Ser Multiple submitters Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
  • p.His2338Arg Multiple submitters Rubinstein-Taybi syndrome due to EP300 haploinsufficiency ⚠
  • p.His368= Multiple submitters Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
  • p.Leu1501= Multiple submitters Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
  • p.Leu1563= Multiple submitters Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
  • p.Leu1584= Multiple submitters Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
  • p.Leu178= Multiple submitters Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
  • p.Leu658Ile Multiple submitters Inborn genetic diseases
  • p.Leu688= Multiple submitters Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
  • p.Lys77= Multiple submitters Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
  • p.Met126Val Multiple submitters Inborn genetic diseases
  • p.Met1928Ile Multiple submitters Rubinstein-Taybi syndrome due to EP300 haploinsufficiency ⚠
  • p.Met2118Val Multiple submitters Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
  • p.Met2130Ile Multiple submitters Rubinstein-Taybi syndrome due to EP300 haploinsufficiency ⚠
  • p.Met2161Val Multiple submitters Rubinstein-Taybi syndrome due to CREBBP mutations
  • p.Met289Val Multiple submitters Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
  • p.Met693Val Multiple submitters Inborn genetic diseases ⚠
  • p.Pro1039Leu Multiple submitters Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
  • p.Pro157Thr Multiple submitters Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
  • p.Pro1855= Multiple submitters Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
  • p.Pro1866= Multiple submitters Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
  • p.Pro1971Ser Multiple submitters Inborn genetic diseases
  • p.Pro2128Ala Multiple submitters Inborn genetic diseases ⚠
  • p.Pro2220Arg Multiple submitters Inborn genetic diseases ⚠
  • p.Pro2292Ala Multiple submitters Inborn genetic diseases ⚠
  • p.Pro2312Ser Multiple submitters Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
  • p.Pro2323= Multiple submitters Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
  • p.Pro2367= Multiple submitters Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
  • p.Pro2380Leu Multiple submitters Inborn genetic diseases
  • p.Pro308Leu Multiple submitters Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
  • p.Pro318Ala Multiple submitters Rubinstein-Taybi syndrome due to EP300 haploinsufficiency ⚠
  • p.Pro434= Multiple submitters Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
  • p.Pro481= Multiple submitters Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
  • p.Pro704Ser Multiple submitters Rubinstein-Taybi syndrome due to EP300 haploinsufficiency ⚠
  • p.Pro747Leu Multiple submitters Inborn genetic diseases ⚠
  • p.Pro784Leu Multiple submitters Rubinstein-Taybi syndrome due to EP300 haploinsufficiency ⚠
  • p.Pro870Leu Multiple submitters Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
  • p.Pro882Arg Multiple submitters Rubinstein-Taybi syndrome due to EP300 haploinsufficiency ⚠
  • p.Pro886Ser Multiple submitters Rubinstein-Taybi syndrome due to EP300 haploinsufficiency ⚠
  • p.Pro925Thr Multiple submitters Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
  • p.Pro934Leu Multiple submitters Rubinstein-Taybi syndrome due to EP300 haploinsufficiency ⚠
  • p.Pro972= Multiple submitters Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
  • p.Ser106Gly Multiple submitters Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
  • p.Ser1716Thr Multiple submitters Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
  • p.Ser2304= Multiple submitters Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
  • p.Ser2371Leu Multiple submitters Inborn genetic diseases ⚠
  • p.Ser2396Gly Multiple submitters Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
  • p.Ser384Ala Multiple submitters Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
  • p.Ser507Gly Multiple submitters Rubinstein-Taybi syndrome due to CREBBP mutations
  • p.Ser697Arg Multiple submitters Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
  • p.Ser798Asn Multiple submitters Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
  • p.Ser833= Multiple submitters Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
  • p.Ser919Asn Multiple submitters Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
  • p.Thr1021= Multiple submitters Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
  • p.Thr1174= Multiple submitters Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
  • p.Thr148Met Multiple submitters Inborn genetic diseases
  • p.Thr1868= Multiple submitters Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
  • p.Thr1878= Multiple submitters Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
  • p.Thr1890Ser Multiple submitters Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
  • p.Thr1938= Multiple submitters Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
  • p.Thr594= Multiple submitters Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
  • p.Thr845Ser Multiple submitters Rubinstein-Taybi syndrome due to EP300 haploinsufficiency ⚠
  • p.Thr858Ala Multiple submitters Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
  • p.Thr891Pro Multiple submitters Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
  • p.Val2070= Multiple submitters Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
  • p.Val2340Ile Multiple submitters Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
  • p.Val319Ile Multiple submitters Rubinstein-Taybi syndrome due to EP300 haploinsufficiency ⚠

Likely benign 680

Showing the top 300 by review status; the full set is in the sitemap.

  • c.3728+55C>G Multiple submitters
  • c.3729-104T>C Multiple submitters
  • c.3729-94C>T Multiple submitters
  • c.4779+34G>A Multiple submitters
  • c.4779+98C>A Multiple submitters
  • c.4780-11_4780-8del Multiple submitters Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
  • p.Ala171= Multiple submitters Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
  • p.Ala1787= Multiple submitters Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
  • p.Ala1936= Multiple submitters Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
  • p.Ala2259Thr Multiple submitters Rubinstein-Taybi syndrome due to EP300 haploinsufficiency ⚠
  • p.Ala922= Multiple submitters Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
  • p.Arg1494= Multiple submitters Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
  • p.Arg1814= Multiple submitters Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
  • p.Arg2308Cys Multiple submitters Rubinstein-Taybi syndrome due to EP300 haploinsufficiency ⚠
  • p.Arg2308His Multiple submitters Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
  • p.Asn1126Ser Multiple submitters Rubinstein-Taybi syndrome due to EP300 haploinsufficiency ⚠
  • p.Asn182Ser Multiple submitters Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
  • p.Asn217Ser Multiple submitters Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
  • p.Asn2305Ser Multiple submitters Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
  • p.Asn625Ser Multiple submitters Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
  • p.Asp1119Asn Multiple submitters Rubinstein-Taybi syndrome due to EP300 haploinsufficiency ⚠
  • p.Cys1385= Multiple submitters Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
  • p.Gln2228= Multiple submitters Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
  • p.Gln72Lys Multiple submitters Inborn genetic diseases
  • p.Gly2387= Multiple submitters Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
  • p.Gly762Asp Multiple submitters Rubinstein-Taybi syndrome due to EP300 haploinsufficiency ⚠
  • p.His1676= Multiple submitters Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
  • p.His1944= Multiple submitters Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
  • p.His2172Gln Multiple submitters Inborn genetic diseases
  • p.His2339= Multiple submitters Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
  • p.Leu23= Multiple submitters Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
  • p.Leu2393Val Multiple submitters colorectal cancer ⚠
  • p.Leu280Pro Multiple submitters Rubinstein-Taybi syndrome due to EP300 haploinsufficiency ⚠
  • p.Leu712= Multiple submitters Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
  • p.Lys1542Glu Multiple submitters Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
  • p.Met153Val Multiple submitters Rubinstein-Taybi syndrome due to EP300 haploinsufficiency ⚠
  • p.Met1989Ile Multiple submitters Inborn genetic diseases
  • p.Met2133Thr Multiple submitters Inborn genetic diseases ⚠
  • p.Met2136Val Multiple submitters Rubinstein-Taybi syndrome due to EP300 haploinsufficiency ⚠
  • p.Met2168Ile Multiple submitters Inborn genetic diseases ⚠
  • p.Met2227Ile Multiple submitters Inborn genetic diseases
  • p.Met2239Thr Multiple submitters Inborn genetic diseases ⚠
  • p.Met749Val Multiple submitters Inborn genetic diseases
  • p.Phe1270= Multiple submitters Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
  • p.Phe715= Multiple submitters Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
  • p.Pro2097Ala Multiple submitters Inborn genetic diseases
  • p.Pro2104Arg Multiple submitters Inborn genetic diseases ⚠
  • p.Pro261Ser Multiple submitters Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
  • p.Pro525= Multiple submitters Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
  • p.Pro678= Multiple submitters Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
  • p.Pro784= Multiple submitters Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
  • p.Ser1072= Multiple submitters Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
  • p.Ser1095= Multiple submitters Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
  • p.Ser150Pro Multiple submitters Inborn genetic diseases
  • p.Ser529Pro Multiple submitters Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
  • p.Ser956= Multiple submitters Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
  • p.Thr132Ser Multiple submitters Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
  • p.Thr1856= Multiple submitters Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
  • p.Thr2397= Multiple submitters Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
  • p.Thr890Pro Multiple submitters Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
  • c.1169-11C>G Single submitter Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
  • c.1169-11C>T Single submitter Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
  • c.1169-12T>C Single submitter Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
  • c.1169-13_1169-9del Single submitter Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
  • c.1169-17T>C Single submitter Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
  • c.1169-19T>A Single submitter Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
  • c.1169-4T>C Single submitter Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
  • c.1282+267del Single submitter
  • c.1283-14T>C Single submitter Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
  • c.1283-20A>G Single submitter Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
  • c.1528+15T>C Single submitter Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
  • c.1528+17C>A Single submitter Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
  • c.1528+17C>G Single submitter Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
  • c.1528+19A>G Single submitter Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
  • c.1528+9G>A Single submitter Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
  • c.1529-12A>G Single submitter Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
  • c.1529-147A>G Single submitter
  • c.1529-16T>C Single submitter Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
  • c.1529-19T>G Single submitter Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
  • c.1622+10A>T Single submitter Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
  • c.1622+12C>T Single submitter Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
  • c.1622+146G>A Single submitter
  • c.1760+11T>C Single submitter Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
  • c.1761-10C>G Single submitter Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
  • c.1761-16G>A Single submitter Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
  • c.1761-70G>T Single submitter
  • c.1878+13T>C Single submitter Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
  • c.1878+15T>G Single submitter Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
  • c.2053+17A>G Single submitter Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
  • c.2053+8_2053+11del Single submitter Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
  • c.2054-16C>T Single submitter Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
  • c.2054-19T>C Single submitter Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
  • c.2132-11C>G Single submitter Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
  • c.2132-15T>C Single submitter Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
  • c.2132-87dup Single submitter
  • c.2132-8A>T Single submitter Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
  • c.2241+283A>G Single submitter
  • c.2242-14T>G Single submitter Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
  • c.2242-15T>G Single submitter Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
  • c.2242-17T>G Single submitter Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
  • c.2242-7T>C Single submitter Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
  • c.2379+17G>A Single submitter Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
  • c.2379+4T>A Single submitter
  • c.2379+8T>C Single submitter Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
  • c.2380-19_2380-15del Single submitter Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
  • c.2380-19A>C Single submitter Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
  • c.2817+182G>A Single submitter
  • c.2818-18C>T Single submitter Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
  • c.2818-19C>A Single submitter Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
  • c.2818-20T>G Single submitter Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
  • c.2818-5C>T Single submitter Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
  • c.2818-8C>G Single submitter Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
  • c.2818-9T>C Single submitter Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
  • c.2997+10G>A Single submitter Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
  • c.2997+14A>G Single submitter Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
  • c.2998-13C>T Single submitter Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
  • c.3142+17A>T Single submitter Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
  • c.3142+20C>T Single submitter Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
  • c.3142+245A>G Single submitter
  • c.3142+8T>C Single submitter Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
  • c.3142+9C>T Single submitter Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
  • c.3143-12T>C Single submitter Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
  • c.3143-15C>A Single submitter Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
  • c.3143-19T>G Single submitter Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
  • c.3143-7_3143-4del Single submitter Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
  • c.3143-7T>G Single submitter Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
  • c.3261+10T>C Single submitter Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
  • c.3261+11G>A Single submitter Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
  • c.3261+14G>A Single submitter Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
  • c.3261+317C>T Single submitter
  • c.3261+8T>G Single submitter Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
  • c.3262-9T>C Single submitter Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
  • c.3501+17A>G Single submitter Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
  • c.3501+5G>C Single submitter
  • c.3502-13G>T Single submitter Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
  • c.3502-17A>C Single submitter Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
  • c.3591-189_3591-186del Single submitter
  • c.3591-19A>G Single submitter Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
  • c.3591-202dup Single submitter
  • c.3591-5G>A Single submitter Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
  • c.3671+16A>C Single submitter Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
  • c.3671+5_3671+7dup Single submitter Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
  • c.3672-9T>C Single submitter Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
  • c.3728+13C>T Single submitter Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
  • c.3728+8C>T Single submitter Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
  • c.3728+9G>A Single submitter Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
  • c.3729-19A>G Single submitter Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
  • c.3729-6T>C Single submitter Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
  • c.3729-8T>C Single submitter Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
  • c.3806+11A>G Single submitter Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
  • c.3806+12C>T Single submitter Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
  • c.3806+13G>A Single submitter Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
  • c.3807-12G>A Single submitter Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
  • c.3807-20A>C Single submitter Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
  • c.3807-7C>T Single submitter Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
  • c.3874+13C>T Single submitter Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
  • c.3874+222dup Single submitter
  • c.3875-19_3875-18del Single submitter Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
  • c.3875-8A>C Single submitter Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
  • c.4025+12T>A Single submitter Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
  • c.4026-11C>T Single submitter Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
  • c.4026-12T>G Single submitter Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
  • c.4026-6G>A Single submitter Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
  • c.4172+11C>T Single submitter Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
  • c.4172+16A>C Single submitter Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
  • c.4172+16A>G Single submitter Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
  • c.4172+7C>T Single submitter Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
  • c.4173-15C>G Single submitter Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
  • c.4173-17_4173-8del Single submitter Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
  • c.4173-17C>A Single submitter Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
  • c.4173-4A>G Single submitter Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
  • c.4173-6G>A Single submitter Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
  • c.4286+202A>G Single submitter
  • c.4287-20C>G Single submitter Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
  • c.4452+105_4452+108del Single submitter
  • c.4452+10G>C Single submitter Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
  • c.4452+18G>A Single submitter Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
  • c.4452+282C>T Single submitter
  • c.4452+8G>A Single submitter Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
  • c.4453-191T>C Single submitter
  • c.4453-6T>C Single submitter Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
  • c.4617+10T>C Single submitter Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
  • c.4617+13A>G Single submitter Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
  • c.4617+17dup Single submitter Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
  • c.4617+18C>T Single submitter Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
  • c.4617+9A>C Single submitter Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
  • c.4618-11C>T Single submitter
  • c.4618-19C>T Single submitter Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
  • c.4618-309A>G Single submitter
  • c.4618-9A>G Single submitter Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
  • c.4779+16C>A Single submitter Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
  • c.4780-12T>A Single submitter Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
  • c.4780-13G>A Single submitter Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
  • c.4780-14_4780-13insTT Single submitter Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
  • c.4780-14T>G Single submitter Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
  • c.4780-21_4780-18del Single submitter Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
  • c.4780-9_4780-6del Single submitter Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
  • c.5061+14T>C Single submitter Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
  • c.5061+22G>A Single submitter
  • c.5062-113dup Single submitter
  • c.5062-15C>T Single submitter Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
  • c.5062-18C>T Single submitter Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
  • c.5062-20A>C Single submitter Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
  • c.5062-5C>T Single submitter Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
  • c.5062-6C>T Single submitter Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
  • c.729+18T>G Single submitter Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
  • c.729+19T>C Single submitter Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
  • c.729+20G>T Single submitter Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
  • c.729+8C>T Single submitter Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
  • c.730-10T>A Single submitter Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
  • c.730-20C>T Single submitter Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
  • c.730-3del Single submitter Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
  • c.730-5C>T Single submitter Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
  • c.730-7_730-2del Single submitter Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
  • c.907-14G>A Single submitter Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
  • c.907-9A>G Single submitter Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
  • c.94+10G>A Single submitter Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
  • c.94+12C>T Single submitter Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
  • c.94+16C>T Single submitter Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
  • c.94+17C>T Single submitter Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
  • c.94+18_94+19insTC Single submitter Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
  • c.94+19G>A Single submitter Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
  • c.95-202G>A Single submitter
  • c.95-9T>C Single submitter Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
  • c.*6C>T Single submitter
  • p.Ala1128= Single submitter Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
  • p.Ala1268Ser Single submitter Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
  • p.Ala1290= Single submitter Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
  • p.Ala1362= Single submitter Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
  • p.Ala1606Val Single submitter Rubinstein-Taybi syndrome due to EP300 haploinsufficiency ⚠
  • p.Ala1629= Single submitter Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
  • p.Ala1634= Single submitter Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
  • p.Ala1723= Single submitter Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
  • p.Ala180Thr Single submitter Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
  • p.Ala1892Thr Single submitter Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
  • p.Ala1963= Single submitter Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
  • p.Ala2093= Single submitter Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
  • p.Ala2165Val Single submitter Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
  • p.Ala2289Thr Single submitter Inborn genetic diseases
  • p.Ala2365Val Single submitter Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
  • p.Ala2377= Single submitter Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
  • p.Ala2383= Single submitter
  • p.Ala2388Val Single submitter Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
  • p.Ala25= Single submitter Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
  • p.Ala288= Single submitter Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
  • p.Ala320= Single submitter Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
  • p.Ala357Thr Single submitter Rubinstein-Taybi syndrome due to EP300 haploinsufficiency ⚠
  • p.Ala662Thr Single submitter Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
  • p.Ala662Val Single submitter Rubinstein-Taybi syndrome due to EP300 haploinsufficiency ⚠
  • p.Ala744= Single submitter
  • p.Ala789= Single submitter Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
  • p.Ala877Thr Single submitter Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
  • p.Ala922Val Single submitter Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
  • p.Ala966= Single submitter Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
  • p.Ala968= Single submitter Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
  • p.Ala980= Single submitter Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
  • p.Arg1137Gln Single submitter Rubinstein-Taybi syndrome due to EP300 haploinsufficiency ⚠
  • p.Arg1311= Single submitter
  • p.Arg1462Gln Single submitter
  • p.Arg1814Trp Single submitter
  • p.Arg2012= Single submitter Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
  • p.Arg2056Trp Single submitter Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
  • p.Arg2088Trp Single submitter Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
  • p.Arg2142Lys Single submitter Rubinstein-Taybi syndrome due to EP300 haploinsufficiency ⚠
  • p.Arg2180Gln Single submitter Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
  • p.Arg2226Gln Single submitter Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
  • p.Arg2226Trp Single submitter Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
  • p.Arg2263Gln Single submitter Inborn genetic diseases
  • p.Arg568= Single submitter Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
  • p.Arg568Gln Single submitter Inborn genetic diseases ⚠
  • p.Arg613= Single submitter Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
  • p.Arg728= Single submitter Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
  • p.Arg728Gln Single submitter Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
  • p.Arg838His Single submitter Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
  • p.Arg86= Single submitter Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
  • p.Asn1206Ser Single submitter Rubinstein-Taybi syndrome due to EP300 haploinsufficiency ⚠
  • p.Asn1535Ser Single submitter Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
  • p.Asn166= Single submitter Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
  • p.Asn1700= Single submitter Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
  • p.Asn1718= Single submitter Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
  • p.Asn1799= Single submitter Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
  • p.Asn182= Single submitter Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
  • p.Asn2094Ser Single submitter
  • p.Asn217= Single submitter
  • p.Asn2357Ser Single submitter Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
  • p.Asn2399= Single submitter Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
  • p.Asn4= Single submitter Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
  • p.Asn405= Single submitter
  • p.Asn439Ser Single submitter Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
  • p.Asn452Ser Single submitter Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
  • p.Asn493Ser Single submitter Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
  • p.Asn760Ser Single submitter Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
  • p.Asn779Ser Single submitter Inborn genetic diseases
  • p.Asp1119= Single submitter Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
  • p.Asp1237= Single submitter Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
  • p.Asp1273= Single submitter Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
  • p.Asp1485= Single submitter Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
  • p.Asp1614= Single submitter Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
  • p.Asp2401Gly Single submitter Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
  • p.Cys1204= Single submitter Rubinstein-Taybi syndrome due to EP300 haploinsufficiency

Uncertain significance 872

Showing the top 300 by review status; the full set is in the sitemap.