Sugi Variant

Sugi Variant/CREBBP

CREBBP — 2955 ClinVar variants

All ClinVar germline CREBBP variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 1265 flagged for review →

316 Pathogenic · 30 Pathogenic/Likely pathogenic · 162 Likely pathogenic · 220 Conflicting · 160 Benign · 108 Benign/Likely benign · 797 Likely benign · 1162 Uncertain significance

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

⚑ Evidence disagreements 1265

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 3

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

Predictors agree, ClinVar conflicts 100

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

Predictors lean, ClinVar uncertain 663

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 663

Predictors split 499

The independent predictors disagree with each other — read with care. · showing the 150 best-reviewed of 499

All CREBBP variants

Pathogenic 316

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

  • c.3369+1del Multiple submitters Rubinstein-Taybi syndrome due to CREBBP mutations
  • c.3779+1G>A Multiple submitters Rubinstein-Taybi syndrome
  • c.3779+1G>T Multiple submitters CREBBP-related disorder
  • c.3836+1G>A Multiple submitters Rubinstein-Taybi syndrome
  • c.3982+1G>A Multiple submitters Rubinstein-Taybi syndrome due to CREBBP mutations
  • p.Arg1103Ter Multiple submitters Rubinstein-Taybi syndrome due to CREBBP mutations
  • p.Arg1173Ter Multiple submitters Rubinstein-Taybi syndrome due to CREBBP mutations
  • p.Arg1360Ter Multiple submitters Rubinstein-Taybi syndrome due to CREBBP mutations
  • p.Arg1378Gln Multiple submitters neurodevelopmental disorder ⚠
  • p.Arg1498Ter Multiple submitters Rubinstein-Taybi syndrome
  • p.Arg1868Trp Multiple submitters Menke-Hennekam syndrome 1
  • p.Arg370Ter Multiple submitters Rubinstein-Taybi syndrome due to CREBBP mutations
  • p.Arg413Ter Multiple submitters Menke-Hennekam syndrome 1
  • p.Arg424Ter Multiple submitters Rubinstein-Taybi syndrome due to CREBBP mutations
  • p.Arg483Ter Multiple submitters Rubinstein-Taybi syndrome
  • p.Arg75Ter Multiple submitters CREBBP-related disorder
  • p.Arg768Ter Multiple submitters Rubinstein-Taybi syndrome
  • p.Gln1880Ter Multiple submitters Rubinstein-Taybi syndrome due to CREBBP mutations
  • p.Gln1904Ter Multiple submitters Rubinstein-Taybi syndrome due to CREBBP mutations
  • p.Gln200Ter Multiple submitters Rubinstein-Taybi syndrome due to CREBBP mutations
  • p.Gln355Ter Multiple submitters Rubinstein-Taybi syndrome due to CREBBP mutations
  • p.Glu1034fs Multiple submitters Rubinstein-Taybi syndrome due to CREBBP mutations
  • p.Glu1551fs Multiple submitters Rubinstein-Taybi syndrome due to CREBBP mutations
  • p.Glu1560fs Multiple submitters Rubinstein-Taybi syndrome due to CREBBP mutations
  • p.Gly1465Glu Multiple submitters Rubinstein-Taybi syndrome
  • p.Ile1649fs Multiple submitters Rubinstein-Taybi syndrome
  • p.Leu1882fs Multiple submitters Rubinstein-Taybi syndrome due to CREBBP mutations
  • p.Ser302fs Multiple submitters Rubinstein-Taybi syndrome due to CREBBP mutations
  • p.Ser318Ter Multiple submitters Rubinstein-Taybi syndrome
  • p.Tyr1503Ter Multiple submitters Rubinstein-Taybi syndrome due to CREBBP mutations
  • p.Tyr2108Ter Multiple submitters Rubinstein-Taybi syndrome due to CREBBP mutations
  • c.1824-1G>T Single submitter Rubinstein-Taybi syndrome due to CREBBP mutations
  • c.1941+1G>A Single submitter Rubinstein-Taybi syndrome
  • c.1941+1G>T Single submitter Rubinstein-Taybi syndrome due to CREBBP mutations
  • c.1941+5G>A Single submitter Rubinstein-Taybi syndrome
  • c.2283+1G>C Single submitter
  • c.2464-6T>A Single submitter Rubinstein-Taybi syndrome
  • c.3061-1G>T Single submitter Rubinstein-Taybi syndrome due to CREBBP mutations
  • c.3369+1G>A Single submitter Rubinstein-Taybi syndrome
  • c.3609+1G>A Single submitter
  • c.3610-1G>A Single submitter Rubinstein-Taybi syndrome
  • c.3699-1469_3836+1579del Single submitter Rubinstein-Taybi syndrome due to CREBBP mutations
  • c.3836+1G>C Single submitter Rubinstein-Taybi syndrome
  • c.3914+1G>T Single submitter Rubinstein-Taybi syndrome due to CREBBP mutations
  • c.3983-2A>G Single submitter Rubinstein-Taybi syndrome due to CREBBP mutations
  • c.4133+1G>A Single submitter Rubinstein-Taybi syndrome due to CREBBP mutations
  • c.4395-3_4395-1delinsTCAC Single submitter Rubinstein-Taybi syndrome due to CREBBP mutations
  • c.4560+1G>A Single submitter
  • c.4561-1G>A Single submitter Rubinstein-Taybi syndrome
  • c.4561-2A>G Single submitter Rubinstein-Taybi syndrome
  • c.4561-2A>T Single submitter Rubinstein-Taybi syndrome
  • c.4729-1G>A Single submitter
  • c.85+2T>G Single submitter Rubinstein-Taybi syndrome
  • c.86-1G>T Single submitter Rubinstein-Taybi syndrome due to CREBBP mutations
  • c.86-2A>C Single submitter Rubinstein-Taybi syndrome due to CREBBP mutations
  • p.Ala117fs Single submitter Rubinstein-Taybi syndrome due to CREBBP mutations
  • p.Ala1226fs Single submitter Rubinstein-Taybi syndrome
  • p.Ala1326fs Single submitter Rubinstein-Taybi syndrome
  • p.Ala254fs Single submitter Rubinstein-Taybi syndrome
  • p.Ala557fs Single submitter
  • p.Ala619fs Single submitter Rubinstein-Taybi syndrome
  • p.Arg1319Ter Single submitter Inborn genetic diseases
  • p.Arg1341Ter Single submitter
  • p.Arg1392Ter Single submitter Rubinstein-Taybi syndrome due to CREBBP mutations
  • p.Arg14fs Single submitter Rubinstein-Taybi syndrome
  • p.Arg1672Ter Single submitter Rubinstein-Taybi syndrome
  • p.Arg1774His Single submitter
  • p.Arg1867Leu Single submitter
  • p.Arg2004Ter Single submitter
  • p.Arg386Ter Single submitter Rubinstein-Taybi syndrome due to CREBBP mutations
  • p.Arg440Ter Single submitter
  • p.Asn11fs Single submitter Rubinstein-Taybi syndrome
  • p.Asn1787Lys Single submitter Inborn genetic diseases
  • p.Asn1813Lys Single submitter
  • p.Asn190fs Single submitter Rubinstein-Taybi syndrome
  • p.Asn530fs Single submitter Rubinstein-Taybi syndrome due to CREBBP mutations
  • p.Asn563fs Single submitter Rubinstein-Taybi syndrome due to CREBBP mutations
  • p.Asn774fs Single submitter Rubinstein-Taybi syndrome
  • p.Asp1127fs Single submitter Rubinstein-Taybi syndrome due to CREBBP mutations
  • p.Asp1143fs Single submitter Inborn genetic diseases
  • p.Asp1155fs Single submitter Rubinstein-Taybi syndrome due to CREBBP mutations
  • p.Asp1581fs Single submitter Rubinstein-Taybi syndrome
  • p.Asp623fs Single submitter Rubinstein-Taybi syndrome due to CREBBP mutations
  • p.Asp639fs Single submitter Rubinstein-Taybi syndrome due to CREBBP mutations
  • p.Cys1212fs Single submitter Rubinstein-Taybi syndrome
  • p.Cys1486fs Single submitter Rubinstein-Taybi syndrome
  • p.Cys1710Tyr Single submitter Inborn genetic diseases
  • p.Cys1790Arg Single submitter Menke-Hennekam syndrome 1
  • p.Cys1838Tyr Single submitter
  • p.Cys427fs Single submitter Rubinstein-Taybi syndrome due to CREBBP mutations
  • p.Cys845Ter Single submitter Rubinstein-Taybi syndrome due to CREBBP mutations
  • p.Gln106Ter Single submitter Rubinstein-Taybi syndrome due to CREBBP mutations
  • p.Gln1079Ter Single submitter Rubinstein-Taybi syndrome
  • p.Gln1104Ter Single submitter Rubinstein-Taybi syndrome due to CREBBP mutations
  • p.Gln1113Ter Single submitter
  • p.Gln1146Ter Single submitter Rubinstein-Taybi syndrome due to CREBBP mutations
  • p.Gln1209Ter Single submitter Inborn genetic diseases
  • p.Gln1217Ter Single submitter Rubinstein-Taybi syndrome due to CREBBP mutations
  • p.Gln1349fs Single submitter
  • p.Gln1349Ter Single submitter Rubinstein-Taybi syndrome due to CREBBP mutations
  • p.Gln136Ter Single submitter Rubinstein-Taybi syndrome due to CREBBP mutations
  • p.Gln1491Ter Single submitter Rubinstein-Taybi syndrome
  • p.Gln1558Ter Single submitter Rubinstein-Taybi syndrome
  • p.Gln158fs Single submitter Rubinstein-Taybi syndrome
  • p.Gln158Ter Single submitter
  • p.Gln170Ter Single submitter Rubinstein-Taybi syndrome due to CREBBP mutations
  • p.Gln1852_Arg1858del Single submitter Rubinstein-Taybi syndrome due to CREBBP mutations
  • p.Gln1895Ter Single submitter Rubinstein-Taybi syndrome due to CREBBP mutations
  • p.Gln1928Ter Single submitter Rubinstein-Taybi syndrome
  • p.Gln1968Ter Single submitter Rubinstein-Taybi syndrome
  • p.Gln1969Ter Single submitter Rubinstein-Taybi syndrome due to CREBBP mutations
  • p.Gln1994Ter Single submitter Rubinstein-Taybi syndrome
  • p.Gln2045Ter Single submitter
  • p.Gln2082Ter Single submitter scoliosis
  • p.Gln2103Ter Single submitter Rubinstein-Taybi syndrome
  • p.Gln2135fs Single submitter Rubinstein-Taybi syndrome
  • p.Gln2140fs Single submitter Rubinstein-Taybi syndrome due to CREBBP mutations
  • p.Gln2146Ter Single submitter Rubinstein-Taybi syndrome due to CREBBP mutations
  • p.Gln245Ter Single submitter Rubinstein-Taybi syndrome
  • p.Gln296fs Single submitter
  • p.Gln301Ter Single submitter Rubinstein-Taybi syndrome due to CREBBP mutations
  • p.Gln355fs Single submitter Rubinstein-Taybi syndrome
  • p.Gln356fs Single submitter Rubinstein-Taybi syndrome due to CREBBP mutations
  • p.Gln443Ter Single submitter Rubinstein-Taybi syndrome
  • p.Gln454Ter Single submitter Rubinstein-Taybi syndrome
  • p.Gln495Ter Single submitter Rubinstein-Taybi syndrome due to CREBBP mutations
  • p.Gln507fs Single submitter Rubinstein-Taybi syndrome
  • p.Gln517Ter Single submitter Rubinstein-Taybi syndrome
  • p.Gln540Ter Single submitter Rubinstein-Taybi syndrome
  • p.Gln676fs Single submitter Rubinstein-Taybi syndrome due to CREBBP mutations
  • p.Gln691Ter Single submitter
  • p.Gln752Ter Single submitter
  • p.Gln792Ter Single submitter
  • p.Gln881Ter Single submitter
  • p.Gln887Ter Single submitter
  • p.Gln897fs Single submitter
  • p.Gln919Ter Single submitter Rubinstein-Taybi syndrome
  • p.Gln931Ter Single submitter Rubinstein-Taybi syndrome due to CREBBP mutations
  • p.Gln935Ter Single submitter Rubinstein-Taybi syndrome
  • p.Gln946Ter Single submitter Rubinstein-Taybi syndrome
  • p.Gln948fs Single submitter
  • p.Gln96Ter Single submitter Rubinstein-Taybi syndrome due to CREBBP mutations
  • p.Glu1023fs Single submitter Rubinstein-Taybi syndrome due to CREBBP mutations
  • p.Glu1205Ter Single submitter Rubinstein-Taybi syndrome due to CREBBP mutations
  • p.Glu1459_Tyr1460insTer Single submitter Rubinstein-Taybi syndrome
  • p.Glu1536fs Single submitter
  • p.Glu1541fs Single submitter
  • p.Glu1555Ter Single submitter Rubinstein-Taybi syndrome
  • p.Glu1724Lys Single submitter Menke-Hennekam syndrome 1
  • p.Glu1766fs Single submitter Rubinstein-Taybi syndrome
  • p.Glu1957fs Single submitter Rubinstein-Taybi syndrome due to CREBBP mutations
  • p.Gly100fs Single submitter Rubinstein-Taybi syndrome due to CREBBP mutations
  • p.Gly1011fs Single submitter
  • p.Gly105fs Single submitter Rubinstein-Taybi syndrome
  • p.Gly1411fs Single submitter Rubinstein-Taybi syndrome
  • p.Gly1465Arg Single submitter
  • p.Gly174fs Single submitter Rubinstein-Taybi syndrome
  • p.Gly194fs Single submitter Rubinstein-Taybi syndrome
  • p.Gly268Ter Single submitter Rubinstein-Taybi syndrome
  • p.Gly277fs Single submitter Rubinstein-Taybi syndrome due to CREBBP mutations
  • p.Gly284fs Single submitter Rubinstein-Taybi syndrome due to CREBBP mutations
  • p.Gly375fs Single submitter Rubinstein-Taybi syndrome
  • p.Gly463fs Single submitter Rubinstein-Taybi syndrome
  • p.Gly565fs Single submitter Rubinstein-Taybi syndrome due to CREBBP mutations
  • p.Gly689fs Single submitter CREBBP-related disorder
  • p.Gly8Ter Single submitter
  • p.His1470Arg Single submitter Inborn genetic diseases
  • p.His1470Pro Single submitter Rubinstein-Taybi syndrome
  • p.His67fs Single submitter Rubinstein-Taybi syndrome
  • p.Ile1402fs Single submitter Rubinstein-Taybi syndrome due to CREBBP mutations
  • p.Ile2040fs Single submitter Rubinstein-Taybi syndrome due to CREBBP mutations
  • p.Leu1026_Ala1029delinsTer Single submitter Rubinstein-Taybi syndrome due to CREBBP mutations
  • p.Leu1142Pro Single submitter Rubinstein-Taybi syndrome
  • p.Leu1251fs Single submitter Rubinstein-Taybi syndrome
  • p.Leu1499Val Single submitter Inborn genetic diseases
  • p.Leu1549fs Single submitter Rubinstein-Taybi syndrome due to CREBBP mutations
  • p.Leu17fs Single submitter Rubinstein-Taybi syndrome
  • p.Leu2067fs Single submitter
  • p.Leu521fs Single submitter Rubinstein-Taybi syndrome due to CREBBP mutations
  • p.Leu555fs Single submitter Rubinstein-Taybi syndrome
  • p.Leu708fs Single submitter Rubinstein-Taybi syndrome due to CREBBP mutations
  • p.Leu869fs Single submitter Rubinstein-Taybi syndrome due to CREBBP mutations
  • p.Lys1495fs Single submitter Rubinstein-Taybi syndrome
  • p.Lys1520Arg Single submitter Rubinstein-Taybi syndrome ⚠
  • p.Lys1554Ter Single submitter Rubinstein-Taybi syndrome due to CREBBP mutations
  • p.Lys1565fs Single submitter Rubinstein-Taybi syndrome due to CREBBP mutations
  • p.Lys16fs Single submitter Rubinstein-Taybi syndrome due to CREBBP mutations
  • p.Lys2091Ter Single submitter Inborn genetic diseases
  • p.Lys607fs Single submitter Rubinstein-Taybi syndrome due to CREBBP mutations
  • p.Lys668_Arg669insTer Single submitter Rubinstein-Taybi syndrome
  • p.Lys68fs Single submitter Rubinstein-Taybi syndrome
  • p.Met1Ile Single submitter Inborn genetic diseases
  • p.Met1Lys Single submitter Rubinstein-Taybi syndrome due to CREBBP mutations
  • p.Met640_Tyr641insTer Single submitter Rubinstein-Taybi syndrome
  • p.Met640fs Single submitter Rubinstein-Taybi syndrome
  • p.Met727fs Single submitter Rubinstein-Taybi syndrome due to CREBBP mutations
  • p.Phe1236fs Single submitter
  • p.Phe1523fs Single submitter Rubinstein-Taybi syndrome due to CREBBP mutations
  • p.Phe276fs Single submitter Rubinstein-Taybi syndrome
  • p.Phe30fs Single submitter Inborn genetic diseases
  • p.Pro1114fs Single submitter
  • p.Pro1494Ser Single submitter Rubinstein-Taybi syndrome
  • p.Pro1890fs Single submitter
  • p.Pro1945fs Single submitter Rubinstein-Taybi syndrome due to CREBBP mutations
  • p.Pro1953fs Single submitter Rubinstein-Taybi syndrome
  • p.Pro1997_Val1998insTer Single submitter Rubinstein-Taybi syndrome due to CREBBP mutations
  • p.Pro2036fs Single submitter Rubinstein-Taybi syndrome due to CREBBP mutations
  • p.Pro2080fs Single submitter Rubinstein-Taybi syndrome
  • p.Pro2156fs Single submitter Rubinstein-Taybi syndrome
  • p.Pro323fs Single submitter Rubinstein-Taybi syndrome
  • p.Pro813fs Single submitter Rubinstein-Taybi syndrome due to CREBBP mutations
  • p.Pro844fs Single submitter Rubinstein-Taybi syndrome
  • p.Pro859fs Single submitter Rubinstein-Taybi syndrome
  • p.Ser1043Ter Single submitter Rubinstein-Taybi syndrome
  • p.Ser1598fs Single submitter Rubinstein-Taybi syndrome due to CREBBP mutations
  • p.Ser1887fs Single submitter Noonan syndrome
  • p.Ser1980fs Single submitter Rubinstein-Taybi syndrome due to CREBBP mutations
  • p.Ser2015fs Single submitter Menke-Hennekam syndrome 1
  • p.Ser2076Ter Single submitter Rubinstein-Taybi syndrome
  • p.Ser471fs Single submitter
  • p.Ser584_Ser585insTer Single submitter Rubinstein-Taybi syndrome due to CREBBP mutations
  • p.Ser745fs Single submitter Rubinstein-Taybi syndrome
  • p.Ser894fs Single submitter Rubinstein-Taybi syndrome due to CREBBP mutations
  • p.Ser938fs Single submitter Rubinstein-Taybi syndrome due to CREBBP mutations
  • p.Ser976fs Single submitter Rubinstein-Taybi syndrome
  • p.Thr1332fs Single submitter
  • p.Thr1931fs Single submitter Rubinstein-Taybi syndrome due to CREBBP mutations
  • p.Thr2073_Leu2074insTer Single submitter
  • p.Thr538fs Single submitter Rubinstein-Taybi syndrome
  • p.Thr932fs Single submitter Rubinstein-Taybi syndrome
  • p.Trp1151Ter Single submitter Rubinstein-Taybi syndrome
  • p.Trp1676Ter Single submitter Rubinstein-Taybi syndrome due to CREBBP mutations
  • p.Trp419Ter Single submitter Rubinstein-Taybi syndrome due to CREBBP mutations
  • p.Tyr1125Ter Single submitter Rubinstein-Taybi syndrome
  • p.Tyr1167fs Single submitter Rubinstein-Taybi syndrome
  • p.Tyr1417Ter Single submitter Rubinstein-Taybi syndrome due to CREBBP mutations
  • p.Tyr1450His Single submitter Inborn genetic diseases
  • p.Tyr1457fs Single submitter Rubinstein-Taybi syndrome due to CREBBP mutations
  • p.Tyr1466Ter Single submitter Rubinstein-Taybi syndrome due to CREBBP mutations
  • p.Tyr1482Asp Single submitter Rubinstein-Taybi syndrome due to CREBBP mutations
  • p.Tyr1503Cys Single submitter Rubinstein-Taybi syndrome due to CREBBP mutations
  • p.Tyr492Ter Single submitter Rubinstein-Taybi syndrome
  • p.Tyr650His Single submitter Inborn genetic diseases
  • p.Tyr659Ter Single submitter Rubinstein-Taybi syndrome due to CREBBP mutations
  • p.Val1743del Single submitter Menke-Hennekam syndrome 1
  • p.Val2002fs Single submitter Rubinstein-Taybi syndrome due to CREBBP mutations
  • p.Val2012fs Single submitter
  • p.Val304fs Single submitter
  • p.Val95fs Single submitter Rubinstein-Taybi syndrome due to CREBBP mutations
  • c.1216+2T>A No assertion criteria Rubinstein-Taybi syndrome due to CREBBP mutations
  • c.1573+1G>A No assertion criteria Rubinstein-Taybi syndrome due to CREBBP mutations
  • c.1676+2_1676+5del No assertion criteria Rubinstein-Taybi syndrome due to CREBBP mutations
  • c.1824-1G>A No assertion criteria Rubinstein-Taybi syndrome due to CREBBP mutations
  • c.1941+2T>C No assertion criteria Rubinstein-Taybi syndrome due to CREBBP mutations
  • c.2159-1G>T No assertion criteria Rubinstein-Taybi syndrome due to CREBBP mutations
  • c.3060+1G>T No assertion criteria Rubinstein-Taybi syndrome due to CREBBP mutations
  • c.3610-1G>C No assertion criteria Rubinstein-Taybi syndrome due to CREBBP mutations
  • c.3610-2A>G No assertion criteria Rubinstein-Taybi syndrome due to CREBBP mutations
  • c.3837-2A>T No assertion criteria Rubinstein-Taybi syndrome due to CREBBP mutations
  • c.3914+1G>A No assertion criteria Rubinstein-Taybi syndrome due to CREBBP mutations
  • c.4728+2del No assertion criteria Rubinstein-Taybi syndrome due to CREBBP mutations
  • c.4890+1G>A No assertion criteria CREBBP-related disorder
  • p.Ala1949fs No assertion criteria Rubinstein-Taybi syndrome due to CREBBP mutations
  • p.Ala1996fs No assertion criteria Rubinstein-Taybi syndrome due to CREBBP mutations
  • p.Ala940fs No assertion criteria Rubinstein-Taybi syndrome due to CREBBP mutations
  • p.Arg1360fs No assertion criteria Rubinstein-Taybi syndrome due to CREBBP mutations
  • p.Arg971fs No assertion criteria Rubinstein-Taybi syndrome due to CREBBP mutations
  • p.Arg971Ter No assertion criteria Rubinstein-Taybi syndrome due to CREBBP mutations
  • p.Asn58fs No assertion criteria Rubinstein-Taybi syndrome due to CREBBP mutations
  • p.Cys1200fs No assertion criteria Rubinstein-Taybi syndrome due to CREBBP mutations
  • p.Cys1710Arg No assertion criteria Menke-Hennekam syndrome 1
  • p.Cys409fs No assertion criteria Rubinstein-Taybi syndrome due to CREBBP mutations
  • p.Gln1415Ter No assertion criteria Rubinstein-Taybi syndrome due to CREBBP mutations
  • p.Gln1908fs No assertion criteria Rubinstein-Taybi syndrome due to CREBBP mutations
  • p.Gln205Ter No assertion criteria Rubinstein-Taybi syndrome due to CREBBP mutations
  • p.Gln357Ter No assertion criteria Rubinstein-Taybi syndrome due to CREBBP mutations
  • p.Gln925Ter No assertion criteria Rubinstein-Taybi syndrome due to CREBBP mutations
  • p.Gln947fs No assertion criteria Rubinstein-Taybi syndrome due to CREBBP mutations
  • p.Gln955fs No assertion criteria Rubinstein-Taybi syndrome due to CREBBP mutations
  • p.Glu1020Ter No assertion criteria Rubinstein-Taybi syndrome due to CREBBP mutations
  • p.Glu1278fs No assertion criteria Rubinstein-Taybi syndrome due to CREBBP mutations
  • p.Glu349fs No assertion criteria Rubinstein-Taybi syndrome due to CREBBP mutations
  • p.Gly1145fs No assertion criteria Rubinstein-Taybi syndrome due to CREBBP mutations
  • p.Gly126Ter No assertion criteria Rubinstein-Taybi syndrome due to CREBBP mutations
  • p.Gly1469fs No assertion criteria Rubinstein-Taybi syndrome due to CREBBP mutations
  • p.Gly1984fs No assertion criteria CREBBP-related disorder
  • p.Gly2132fs No assertion criteria Rubinstein-Taybi syndrome due to CREBBP mutations
  • p.Gly221fs No assertion criteria Rubinstein-Taybi syndrome due to CREBBP mutations
  • p.Gly333Ter No assertion criteria Rubinstein-Taybi syndrome due to CREBBP mutations
  • p.Gly777fs No assertion criteria Rubinstein-Taybi syndrome due to CREBBP mutations
  • p.His1487fs No assertion criteria Rubinstein-Taybi syndrome due to CREBBP mutations
  • p.Ile1221fs No assertion criteria Rubinstein-Taybi syndrome due to CREBBP mutations
  • p.Ile82Ter No assertion criteria Rubinstein-Taybi syndrome due to CREBBP mutations
  • p.Leu1549dup No assertion criteria Rubinstein-Taybi syndrome due to CREBBP mutations
  • p.Leu2035fs No assertion criteria Rubinstein-Taybi syndrome due to CREBBP mutations
  • p.Leu2074fs No assertion criteria Rubinstein-Taybi syndrome due to CREBBP mutations
  • p.Leu2197fs No assertion criteria Rubinstein-Taybi syndrome due to CREBBP mutations
  • p.Lys1033Ter No assertion criteria Rubinstein-Taybi syndrome due to CREBBP mutations
  • p.Met325fs No assertion criteria Rubinstein-Taybi syndrome due to CREBBP mutations
  • p.Phe1111fs No assertion criteria Rubinstein-Taybi syndrome due to CREBBP mutations

Pathogenic/Likely pathogenic 30

  • c.2881-13G>A Multiple submitters Rubinstein-Taybi syndrome due to CREBBP mutations
  • c.3369+1G>T Multiple submitters Rubinstein-Taybi syndrome due to CREBBP mutations
  • p.Ala1782Val Multiple submitters Rubinstein-Taybi syndrome due to CREBBP mutations
  • p.Arg1233Lys Multiple submitters glaucoma ⚠
  • p.Arg1786Cys Multiple submitters Inborn genetic diseases
  • p.Arg1786His Multiple submitters Rubinstein-Taybi syndrome due to CREBBP mutations
  • p.Arg1867Gln Multiple submitters Menke-Hennekam syndrome 1
  • p.Arg1867Trp Multiple submitters Menke-Hennekam syndrome 1
  • p.Arg1868Gln Multiple submitters Rubinstein-Taybi syndrome
  • p.Asp1480Gly Multiple submitters Rubinstein-Taybi syndrome due to CREBBP mutations
  • p.Cys1240Tyr Multiple submitters Rubinstein-Taybi syndrome due to CREBBP mutations
  • p.Cys1720Arg Multiple submitters Rubinstein-Taybi syndrome due to CREBBP mutations
  • p.Cys1723Trp Multiple submitters Menke-Hennekam syndrome 1
  • p.Gln1209fs Multiple submitters Rubinstein-Taybi syndrome due to CREBBP mutations
  • p.Gln1853Pro Multiple submitters Menke-Hennekam syndrome 1
  • p.Gln1941Ter Multiple submitters Menke-Hennekam syndrome 1
  • p.Gln2030Ter Multiple submitters Rubinstein-Taybi syndrome due to CREBBP mutations
  • p.Gln2081Ter Multiple submitters Rubinstein-Taybi syndrome due to CREBBP mutations
  • p.Glu1278Lys Multiple submitters Rubinstein-Taybi syndrome
  • p.Ile1855_Gln1861dup Multiple submitters
  • p.Leu1779Pro Multiple submitters Rubinstein-Taybi syndrome due to CREBBP mutations
  • p.Met1872Thr Multiple submitters Menke-Hennekam syndrome 1 ⚠
  • p.Met1872Val Multiple submitters CREBBP-related disorder ⚠
  • p.Phe1633del Multiple submitters Menke-Hennekam syndrome 1
  • p.Pro1946fs Multiple submitters Rubinstein-Taybi syndrome
  • p.Pro1947fs Multiple submitters Rubinstein-Taybi syndrome due to CREBBP mutations
  • p.Ser1680del Multiple submitters CREBBP-related disorder
  • p.Ser1898fs Multiple submitters Rubinstein-Taybi syndrome
  • p.Thr1447Ile Multiple submitters Rubinstein-Taybi syndrome
  • p.Tyr1175Cys Multiple submitters Inborn genetic diseases

Likely pathogenic 162

  • c.3914+3G>T Multiple submitters Rubinstein-Taybi syndrome due to CREBBP mutations
  • p.Ala1782Thr Multiple submitters Menke-Hennekam syndrome 1
  • p.Arg1378Pro Multiple submitters CREBBP-related disorder
  • p.Arg1664His Multiple submitters Rubinstein-Taybi syndrome due to CREBBP mutations
  • p.Arg601Trp Multiple submitters Rubinstein-Taybi syndrome due to CREBBP mutations
  • p.Cys1729Arg Multiple submitters Menke-Hennekam syndrome 1
  • p.Gln2057Ter Multiple submitters Rubinstein-Taybi syndrome due to CREBBP mutations
  • p.Gln2084Ter Multiple submitters Rubinstein-Taybi syndrome due to CREBBP mutations
  • p.Leu608Pro Multiple submitters Rubinstein-Taybi syndrome due to CREBBP mutations
  • p.Ser1687Phe Multiple submitters Menke-Hennekam syndrome 1
  • p.Thr1426Arg Multiple submitters Rubinstein-Taybi syndrome due to CREBBP mutations ⚠
  • c.1574-2A>G Single submitter Rubinstein-Taybi syndrome
  • c.1824-1G>C Single submitter Rubinstein-Taybi syndrome due to CREBBP mutations
  • c.2113+1G>C Single submitter Rubinstein-Taybi syndrome due to CREBBP mutations
  • c.2158+1G>A Single submitter
  • c.2283+1G>T Single submitter Rubinstein-Taybi syndrome
  • c.2284-2A>G Single submitter Rubinstein-Taybi syndrome due to CREBBP mutations
  • c.2464-1G>A Single submitter Rubinstein-Taybi syndrome
  • c.2464-2A>G Single submitter
  • c.2880+1G>A Single submitter
  • c.3248_3250+4del Single submitter Rubinstein-Taybi syndrome
  • c.3370-2A>G Single submitter Rubinstein-Taybi syndrome due to CREBBP mutations
  • c.3610-1G>T Single submitter Rubinstein-Taybi syndrome due to CREBBP mutations
  • c.3779+1G>C Single submitter Rubinstein-Taybi syndrome due to CREBBP mutations
  • c.3779+2dup Single submitter Menke-Hennekam syndrome 1
  • c.3836+5G>A Single submitter Rubinstein-Taybi syndrome due to CREBBP mutations
  • c.3982+3A>T Single submitter Rubinstein-Taybi syndrome due to CREBBP mutations
  • c.3983-1G>C Single submitter Rubinstein-Taybi syndrome due to CREBBP mutations
  • c.4134-1G>T Single submitter Rubinstein-Taybi syndrome due to CREBBP mutations
  • c.4281-11C>G Single submitter Rubinstein-Taybi syndrome due to CREBBP mutations
  • c.4281-2A>T Single submitter Rubinstein-Taybi syndrome
  • c.4395-2A>C Single submitter Rubinstein-Taybi syndrome
  • c.4719_4728+614del Single submitter Rubinstein-Taybi syndrome
  • c.4890+2T>C Single submitter
  • c.85+1G>A Single submitter Rubinstein-Taybi syndrome due to CREBBP mutations
  • c.85+1G>C Single submitter Rubinstein-Taybi syndrome due to CREBBP mutations
  • p.Ala1164Pro Single submitter Rubinstein-Taybi syndrome due to CREBBP mutations
  • p.Ala1395Asp Single submitter
  • p.Ala1870Pro Single submitter CREBBP-related disorder
  • p.Ala1944fs Single submitter Rubinstein-Taybi syndrome due to CREBBP mutations
  • p.Ala2044_Gln2057del Single submitter Rubinstein-Taybi syndrome due to CREBBP mutations
  • p.Ala2047fs Single submitter Rubinstein-Taybi syndrome due to CREBBP mutations
  • p.Ala403fs Single submitter Rubinstein-Taybi syndrome due to CREBBP mutations
  • p.Ala644Pro Single submitter Rubinstein-Taybi syndrome due to CREBBP mutations
  • p.Ala64fs Single submitter Rubinstein-Taybi syndrome due to CREBBP mutations
  • p.Arg1091fs Single submitter Rubinstein-Taybi syndrome due to CREBBP mutations
  • p.Arg1140fs Single submitter Rubinstein-Taybi syndrome due to CREBBP mutations
  • p.Arg1341Pro Single submitter Rubinstein-Taybi syndrome due to CREBBP mutations
  • p.Arg1427Ser Single submitter Rubinstein-Taybi syndrome due to CREBBP mutations
  • p.Arg1446His Single submitter Rubinstein-Taybi syndrome due to CREBBP mutations
  • p.Arg1446Pro Single submitter
  • p.Arg1498Gln Single submitter Inborn genetic diseases
  • p.Arg1664Leu Single submitter Rubinstein-Taybi syndrome due to CREBBP mutations
  • p.Arg1786Gly Single submitter Menke-Hennekam syndrome 1
  • p.Arg1786Pro Single submitter CREBBP-related disorder
  • p.Arg1875fs Single submitter
  • p.Arg2104Cys Single submitter
  • p.Asn1168_Tyr1175del Single submitter Rubinstein-Taybi syndrome due to CREBBP mutations
  • p.Asn1248Ile Single submitter ⚠
  • p.Asn1604fs Single submitter Rubinstein-Taybi syndrome due to CREBBP mutations
  • p.Asn1787_Arg1810del Single submitter
  • p.Asn1789Lys Single submitter
  • p.Asn1789Thr Single submitter
  • p.Asp1435Glu Single submitter Rubinstein-Taybi syndrome due to CREBBP mutations
  • p.Asp1481Gly Single submitter
  • p.Asp1701Gly Single submitter
  • p.Asp1725Glu Single submitter
  • p.Cys1294Trp Single submitter Inborn genetic diseases
  • p.Cys1421Phe Single submitter Rubinstein-Taybi syndrome due to CREBBP mutations
  • p.Cys1707Ser Single submitter
  • p.Cys1710Ser Single submitter intellectual disability
  • p.Cys1720Tyr Single submitter Inborn genetic diseases
  • p.Cys1729Ser Single submitter Rubinstein-Taybi syndrome due to CREBBP mutations
  • p.Cys1729Tyr Single submitter intellectual disability
  • p.Cys1783Phe Single submitter Tip-toe gait
  • p.Cys367Phe Single submitter
  • p.Gln1491Lys Single submitter Rubinstein-Taybi syndrome due to CREBBP mutations
  • p.Gln1854Pro Single submitter intellectual disability
  • p.Gln2130Ter Single submitter Rubinstein-Taybi syndrome due to CREBBP mutations
  • p.Gln2136fs Single submitter Rubinstein-Taybi syndrome due to CREBBP mutations
  • p.Gln812fs Single submitter Rubinstein-Taybi syndrome due to CREBBP mutations
  • p.Gln842fs Single submitter
  • p.Gln897Ter Single submitter Rubinstein-Taybi syndrome due to CREBBP mutations
  • p.Glu1278Gln Single submitter Rubinstein-Taybi syndrome due to CREBBP mutations
  • p.Glu1356fs Single submitter Rubinstein-Taybi syndrome due to CREBBP mutations
  • p.Glu1459Gly Single submitter Rubinstein-Taybi syndrome due to CREBBP mutations
  • p.Glu1550fs Single submitter Rubinstein-Taybi syndrome due to CREBBP mutations
  • p.Glu594Ter Single submitter Menke-Hennekam syndrome 1
  • p.Gly1479del Single submitter Rubinstein-Taybi syndrome due to CREBBP mutations
  • p.Gly172fs Single submitter Rubinstein-Taybi syndrome due to CREBBP mutations
  • p.Gly1746Val Single submitter Rubinstein-Taybi syndrome due to CREBBP mutations ⚠
  • p.His1487Pro Single submitter Rubinstein-Taybi syndrome due to CREBBP mutations
  • p.His1740Asn Single submitter
  • p.His1804Gln Single submitter Rubinstein-Taybi syndrome due to CREBBP mutations
  • p.His1857Pro Single submitter
  • p.His365Pro Single submitter Rubinstein-Taybi syndrome due to CREBBP mutations
  • p.Ile1084_Phe1085insTer Single submitter Rubinstein-Taybi syndrome due to CREBBP mutations
  • p.Ile1453Thr Single submitter
  • p.Ile1772Asn Single submitter
  • p.Ile2062fs Single submitter central nervous system disorder
  • p.Ile678fs Single submitter Rubinstein-Taybi syndrome due to CREBBP mutations
  • p.Leu1090Ter Single submitter
  • p.Leu1507Pro Single submitter
  • p.Leu1747Arg Single submitter Menke-Hennekam syndrome 1
  • p.Leu2330Phe Single submitter ⚠
  • p.Lys1314Ter Single submitter Rubinstein-Taybi syndrome due to CREBBP mutations
  • p.Lys1492Glu Single submitter intellectual disability
  • p.Lys434Ile Single submitter Rubinstein-Taybi syndrome due to CREBBP mutations
  • p.Met1385Lys Single submitter Rubinstein-Taybi syndrome due to CREBBP mutations
  • p.Met1988fs Single submitter Rubinstein-Taybi syndrome due to CREBBP mutations
  • p.Met2016fs Single submitter Rubinstein-Taybi syndrome due to CREBBP mutations
  • p.Met2042fs Single submitter
  • p.Met769fs Single submitter Rubinstein-Taybi syndrome due to CREBBP mutations
  • p.Phe1126fs Single submitter Rubinstein-Taybi syndrome due to CREBBP mutations
  • p.Phe1185fs Single submitter Rubinstein-Taybi syndrome due to CREBBP mutations
  • p.Phe1409Ser Single submitter Rubinstein-Taybi syndrome due to CREBBP mutations
  • p.Phe280fs Single submitter Rubinstein-Taybi syndrome due to CREBBP mutations
  • p.Pro1424fs Single submitter
  • p.Pro1494Arg Single submitter
  • p.Pro1538Leu Single submitter Rubinstein-Taybi syndrome due to CREBBP mutations
  • p.Pro1903fs Single submitter Rubinstein-Taybi syndrome due to CREBBP mutations
  • p.Pro542fs Single submitter
  • p.Pro696fs Single submitter
  • p.Pro704fs Single submitter Rubinstein-Taybi syndrome due to CREBBP mutations
  • p.Pro84fs Single submitter
  • p.Ser1684Pro Single submitter Rubinstein-Taybi syndrome due to CREBBP mutations
  • p.Ser1687Pro Single submitter Rubinstein-Taybi syndrome
  • p.Thr1171Arg Single submitter Rubinstein-Taybi syndrome due to CREBBP mutations
  • p.Thr1894fs Single submitter
  • p.Thr579fs Single submitter
  • p.Thr910fs Single submitter Rubinstein-Taybi syndrome due to CREBBP mutations
  • p.Trp1165_Val1192delinsCys Single submitter Rubinstein-Taybi syndrome due to CREBBP mutations
  • p.Trp592Ter Single submitter
  • p.Tyr1482Cys Single submitter Rubinstein-Taybi syndrome due to CREBBP mutations
  • p.Tyr1503Phe Single submitter Rubinstein-Taybi syndrome due to CREBBP mutations
  • p.Tyr1539Asn Single submitter Rubinstein-Taybi syndrome
  • p.Tyr1733Asp Single submitter Rubinstein-Taybi syndrome due to CREBBP mutations
  • p.Tyr1828del Single submitter Rubinstein-Taybi syndrome due to CREBBP mutations
  • p.Val1361Ala Single submitter Rubinstein-Taybi syndrome due to CREBBP mutations
  • p.Val504fs Single submitter Rubinstein-Taybi syndrome due to CREBBP mutations
  • c.3061-1G>A No assertion criteria CREBBP-related disorder
  • p.Ala1473Thr No assertion criteria Rubinstein-Taybi syndrome due to CREBBP mutations
  • p.Arg1018fs No assertion criteria CREBBP-related disorder
  • p.Arg1347Pro No assertion criteria Rubinstein-Taybi syndrome due to CREBBP mutations
  • p.Arg1392Leu No assertion criteria Rubinstein-Taybi syndrome due to CREBBP mutations
  • p.Arg1428Pro No assertion criteria Rubinstein-Taybi syndrome due to CREBBP mutations
  • p.Arg2037fs No assertion criteria Rubinstein-Taybi syndrome due to CREBBP mutations
  • p.Asp1435Tyr No assertion criteria Rubinstein-Taybi syndrome due to CREBBP mutations
  • p.Cys1408Phe No assertion criteria CREBBP-related disorder
  • p.Cys1723Phe No assertion criteria Menke-Hennekam syndrome 1
  • p.Gln699Ter No assertion criteria CREBBP-related disorder
  • p.His1487Arg No assertion criteria Rubinstein-Taybi syndrome due to CREBBP mutations
  • p.Leu1464Ter No assertion criteria CREBBP-related disorder
  • p.Met1742Val No assertion criteria Rare genetic intellectual disability
  • p.Pro287Gly No assertion criteria Rubinstein-Taybi syndrome due to CREBBP mutations
  • p.Ser1179Gly No assertion criteria Rubinstein-Taybi syndrome due to CREBBP mutations ⚠
  • p.Ser1382Phe No assertion criteria Rubinstein-Taybi syndrome due to CREBBP mutations
  • p.Ser2092Ter No assertion criteria Rubinstein-Taybi syndrome due to CREBBP mutations
  • p.Ser2421_Ter2443delinsXaa No assertion criteria Rubinstein-Taybi syndrome due to CREBBP mutations
  • p.Ser412Ter No assertion criteria
  • p.Thr1871del No assertion criteria Menke-Hennekam syndrome 1
  • p.Tyr1433His No assertion criteria Rubinstein-Taybi syndrome due to CREBBP mutations

Conflicting classifications of pathogenicity 220

Benign 160

Benign/Likely benign 108

  • c.1216+20C>A Multiple submitters Rubinstein-Taybi syndrome
  • c.3370-16dup Multiple submitters Inborn genetic diseases
  • c.3370-4del Multiple submitters Inborn genetic diseases
  • c.3370-5_3370-4del Multiple submitters Menke-Hennekam syndrome 1
  • c.3698+7G>A Multiple submitters Rubinstein-Taybi syndrome due to CREBBP mutations
  • c.3982+9C>T Multiple submitters Rubinstein-Taybi syndrome due to CREBBP mutations
  • c.4133+19T>C Multiple submitters Rubinstein-Taybi syndrome
  • c.4133+9G>A Multiple submitters Menke-Hennekam syndrome 1
  • c.4560+14A>G Multiple submitters Rubinstein-Taybi syndrome
  • c.4560+7G>A Multiple submitters Rubinstein-Taybi syndrome
  • c.4728+8C>T Multiple submitters Rubinstein-Taybi syndrome
  • p.Ala138= Multiple submitters Rubinstein-Taybi syndrome
  • p.Ala138Thr Multiple submitters Rubinstein-Taybi syndrome
  • p.Ala1955= Multiple submitters Rubinstein-Taybi syndrome
  • p.Ala1966= Multiple submitters Inborn genetic diseases
  • p.Ala2047= Multiple submitters Rubinstein-Taybi syndrome
  • p.Ala2219Val Multiple submitters Inborn genetic diseases
  • p.Ala2243Val Multiple submitters Rubinstein-Taybi syndrome
  • p.Ala2265Val Multiple submitters Rubinstein-Taybi syndrome ⚠
  • p.Ala2419Thr Multiple submitters Inborn genetic diseases
  • p.Ala2419Val Multiple submitters Rubinstein-Taybi syndrome
  • p.Ala254Thr Multiple submitters Rubinstein-Taybi syndrome
  • p.Ala467Thr Multiple submitters Rubinstein-Taybi syndrome
  • p.Ala581= Multiple submitters Rubinstein-Taybi syndrome
  • p.Ala690Ser Multiple submitters Rubinstein-Taybi syndrome
  • p.Ala828Ser Multiple submitters Rubinstein-Taybi syndrome
  • p.Arg1498= Multiple submitters Rubinstein-Taybi syndrome due to CREBBP mutations
  • p.Arg1926Gly Multiple submitters Rubinstein-Taybi syndrome
  • p.Arg2366= Multiple submitters Rubinstein-Taybi syndrome
  • p.Arg742Pro Multiple submitters Rubinstein-Taybi syndrome ⚠
  • p.Asn111= Multiple submitters Rubinstein-Taybi syndrome
  • p.Asn1310= Multiple submitters Rubinstein-Taybi syndrome
  • p.Asn1612Ser Multiple submitters Rubinstein-Taybi syndrome
  • p.Asn1978= Multiple submitters Rubinstein-Taybi syndrome
  • p.Asn1978Ser Multiple submitters Rubinstein-Taybi syndrome
  • p.Asn2001= Multiple submitters Rubinstein-Taybi syndrome
  • p.Asn2111Ser Multiple submitters Rubinstein-Taybi syndrome
  • p.Asn321Ser Multiple submitters Rubinstein-Taybi syndrome
  • p.Asn522Ser Multiple submitters Rubinstein-Taybi syndrome
  • p.Asp1253= Multiple submitters Rubinstein-Taybi syndrome
  • p.Asp991= Multiple submitters Rubinstein-Taybi syndrome
  • p.Gln2188= Multiple submitters Rubinstein-Taybi syndrome due to CREBBP mutations
  • p.Gln2203= Multiple submitters Rubinstein-Taybi syndrome due to CREBBP mutations
  • p.Gln2208= Multiple submitters Rubinstein-Taybi syndrome due to CREBBP mutations
  • p.Gln2208His Multiple submitters Rubinstein-Taybi syndrome ⚠
  • p.Gln2213_Gln2216del Multiple submitters Rubinstein-Taybi syndrome
  • p.Gln278Pro Multiple submitters Rubinstein-Taybi syndrome ⚠
  • p.Gln503His Multiple submitters Rubinstein-Taybi syndrome ⚠
  • p.Gln507= Multiple submitters Rubinstein-Taybi syndrome
  • p.Glu1007Asp Multiple submitters Rubinstein-Taybi syndrome due to CREBBP mutations
  • p.Glu2404= Multiple submitters Inborn genetic diseases
  • p.Glu72Asp Multiple submitters Inborn genetic diseases
  • p.Gly2148= Multiple submitters Rubinstein-Taybi syndrome
  • p.Gly2229Ser Multiple submitters Inborn genetic diseases
  • p.Gly98Val Multiple submitters Rubinstein-Taybi syndrome
  • p.His2228= Multiple submitters Menke-Hennekam syndrome 1
  • p.His365= Multiple submitters Menke-Hennekam syndrome 1
  • p.Leu59= Multiple submitters Rubinstein-Taybi syndrome
  • p.Met747Val Multiple submitters Inborn genetic diseases
  • p.Pro1008= Multiple submitters Rubinstein-Taybi syndrome
  • p.Pro1053Leu Multiple submitters Rubinstein-Taybi syndrome ⚠
  • p.Pro1080Leu Multiple submitters Rubinstein-Taybi syndrome ⚠
  • p.Pro1277= Multiple submitters Inborn genetic diseases
  • p.Pro153Leu Multiple submitters Rubinstein-Taybi syndrome
  • p.Pro1608Thr Multiple submitters Inborn genetic diseases
  • p.Pro1759= Multiple submitters Inborn genetic diseases
  • p.Pro1889= Multiple submitters Rubinstein-Taybi syndrome
  • p.Pro1947Ser Multiple submitters Rubinstein-Taybi syndrome
  • p.Pro1991= Multiple submitters Rubinstein-Taybi syndrome
  • p.Pro2242= Multiple submitters Rubinstein-Taybi syndrome
  • p.Pro227= Multiple submitters Rubinstein-Taybi syndrome due to CREBBP mutations
  • p.Pro2363= Multiple submitters Rubinstein-Taybi syndrome
  • p.Pro84Thr Multiple submitters Rubinstein-Taybi syndrome
  • p.Pro858Ser Multiple submitters Inborn genetic diseases
  • p.Pro901Leu Multiple submitters Rubinstein-Taybi syndrome ⚠
  • p.Pro949Leu Multiple submitters Rubinstein-Taybi syndrome due to CREBBP mutations ⚠
  • p.Pro951= Multiple submitters Inborn genetic diseases
  • p.Ser1043Leu Multiple submitters Inborn genetic diseases ⚠
  • p.Ser1078Pro Multiple submitters Rubinstein-Taybi syndrome
  • p.Ser128Cys Multiple submitters Rubinstein-Taybi syndrome ⚠
  • p.Ser128Pro Multiple submitters Rubinstein-Taybi syndrome
  • p.Ser1923= Multiple submitters Inborn genetic diseases
  • p.Ser2055= Multiple submitters Rubinstein-Taybi syndrome
  • p.Ser2065= Multiple submitters Rubinstein-Taybi syndrome due to CREBBP mutations
  • p.Ser2283= Multiple submitters Rubinstein-Taybi syndrome due to CREBBP mutations
  • p.Ser302Asn Multiple submitters Rubinstein-Taybi syndrome
  • p.Ser803= Multiple submitters Inborn genetic diseases
  • p.Ser893Leu Multiple submitters Rubinstein-Taybi syndrome due to CREBBP mutations
  • p.Thr1250= Multiple submitters Rubinstein-Taybi syndrome
  • p.Thr1812= Multiple submitters Rubinstein-Taybi syndrome
  • p.Thr1986= Multiple submitters Rubinstein-Taybi syndrome
  • p.Thr2284= Multiple submitters Inborn genetic diseases
  • p.Thr2434= Multiple submitters Rubinstein-Taybi syndrome
  • p.Thr251= Multiple submitters Rubinstein-Taybi syndrome due to CREBBP mutations
  • p.Thr258= Multiple submitters Rubinstein-Taybi syndrome
  • p.Thr586= Multiple submitters Rubinstein-Taybi syndrome
  • p.Thr872= Multiple submitters Menke-Hennekam syndrome 1
  • p.Thr910Ala Multiple submitters Rubinstein-Taybi syndrome
  • p.Thr910Ser Multiple submitters Rubinstein-Taybi syndrome
  • p.Thr999Met Multiple submitters Rubinstein-Taybi syndrome ⚠
  • p.Tyr1450= Multiple submitters Rubinstein-Taybi syndrome due to CREBBP mutations
  • p.Tyr1705= Multiple submitters Rubinstein-Taybi syndrome due to CREBBP mutations
  • p.Val1924Met Multiple submitters Rubinstein-Taybi syndrome
  • p.Val2149Met Multiple submitters Rubinstein-Taybi syndrome
  • p.Val238Leu Multiple submitters Menke-Hennekam syndrome 1
  • p.Val238Met Multiple submitters Rubinstein-Taybi syndrome due to CREBBP mutations
  • p.Val293= Multiple submitters Inborn genetic diseases
  • p.Val994Met Multiple submitters Rubinstein-Taybi syndrome ⚠

Likely benign 797

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

Uncertain significance 1162

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