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Links from MedGen

Items: 1 to 100 of 485

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CREBBP
(S1326G +1 more)
Single nucleotide variant
(missense variant)
Rubinstein-Taybi syndrome due to CREBBP mutations
GUncertain significance
CREBBP
(E1023fs +1 more)
Deletion
(frameshift variant)
Rubinstein-Taybi syndrome due to CREBBP mutations
GPathogenic
CREBBP
Deletion
(frameshift variant)
Rubinstein-Taybi syndrome due to CREBBP mutations
GPathogenic
CREBBP
Single nucleotide variant
(splice acceptor variant)
Rubinstein-Taybi syndrome due to CREBBP mutations
GLikely pathogenic
CREBBP
(A240V)
Single nucleotide variant
(missense variant)
Rubinstein-Taybi syndrome due to CREBBP mutations
GUncertain significance
CREBBP
(P552L +1 more)
Single nucleotide variant
(missense variant)
Rubinstein-Taybi syndrome due to CREBBP mutations
GUncertain significance
CREBBP
(F1242Y +1 more)
Single nucleotide variant
(missense variant)
Rubinstein-Taybi syndrome due to CREBBP mutations
GUncertain significance
CREBBP
Copy number loss
Rubinstein-Taybi syndrome due to CREBBP mutations
GPathogenic
CREBBP
(D1365G +1 more)
Single nucleotide variant
(missense variant)
Rubinstein-Taybi syndrome due to CREBBP mutations
GLikely benign
CREBBP
(L2159fs +1 more)
Duplication
Rubinstein-Taybi syndrome due to CREBBP mutations
GPathogenic
CREBBP
(H365P)
Single nucleotide variant
(missense variant)
Rubinstein-Taybi syndrome due to CREBBP mutations
GLikely pathogenic
CREBBP
Single nucleotide variant
(splice donor variant)
Rubinstein-Taybi syndrome due to CREBBP mutations
GLikely pathogenic
CREBBP
(K1486R +1 more)
Single nucleotide variant
(missense variant)
Rubinstein-Taybi syndrome due to CREBBP mutations
GUncertain significance
CREBBP
(T1182I +1 more)
Single nucleotide variant
(missense variant)
Rubinstein-Taybi syndrome due to CREBBP mutations
+1 more
GLikely benign
CREBBP
(Q356fs)
Deletion
(frameshift variant)
Rubinstein-Taybi syndrome due to CREBBP mutations
GPathogenic
CREBBP, TRAP1
Deletion
Rubinstein-Taybi syndrome due to CREBBP mutations
GLikely pathogenic
CREBBP
(Q2019* +1 more)
Single nucleotide variant
(nonsense)
Rubinstein-Taybi syndrome due to CREBBP mutations
GLikely pathogenic
CREBBP
(P863S +1 more)
Single nucleotide variant
(missense variant)
Rubinstein-Taybi syndrome due to CREBBP mutations
GUncertain significance
CREBBP
Single nucleotide variant
(intron variant)
Rubinstein-Taybi syndrome due to CREBBP mutations
GUncertain significance
CREBBP
(D585fs +1 more)
Deletion
(frameshift variant)
Rubinstein-Taybi syndrome due to CREBBP mutations
GPathogenic
EP300, LOC126863158
(Q939* +1 more)
Single nucleotide variant
(nonsense)
Rubinstein-Taybi syndrome due to CREBBP mutations
GPathogenic
CREBBP
(F1485fs +1 more)
Deletion
(frameshift variant)
Rubinstein-Taybi syndrome due to CREBBP mutations
GPathogenic
CREBBP
(K1459T +1 more)
Single nucleotide variant
(missense variant)
Rubinstein-Taybi syndrome due to CREBBP mutations
+2 more
GUncertain significance
CREBBP
(M2206I +1 more)
Single nucleotide variant
(missense variant)
Rubinstein-Taybi syndrome
GBenign
CREBBP
(L1556V +1 more)
Single nucleotide variant
(missense variant)
Rubinstein-Taybi syndrome due to CREBBP mutations
GUncertain significance
CREBBP
(A64fs)
Deletion
(frameshift variant)
Rubinstein-Taybi syndrome due to CREBBP mutations
GLikely pathogenic
CREBBP
Deletion
(inframe_deletion)
Rubinstein-Taybi syndrome due to CREBBP mutations
GLikely pathogenic
CREBBP
(G292E)
Single nucleotide variant
(missense variant)
Rubinstein-Taybi syndrome due to CREBBP mutations
GUncertain significance
CREBBP
(Q1857* +1 more)
Single nucleotide variant
(nonsense)
Rubinstein-Taybi syndrome due to CREBBP mutations
GPathogenic
CREBBP
(V1017L +1 more)
Single nucleotide variant
(missense variant)
Rubinstein-Taybi syndrome due to CREBBP mutations
GUncertain significance
CREBBP
(A364P)
Single nucleotide variant
(missense variant)
Rubinstein-Taybi syndrome due to CREBBP mutations
GLikely benign
CREBBP
(V1964fs +1 more)
Microsatellite
(frameshift variant)
Rubinstein-Taybi syndrome due to CREBBP mutations
GPathogenic
CREBBP
(Y1379* +1 more)
Single nucleotide variant
(nonsense)
Rubinstein-Taybi syndrome due to CREBBP mutations
GPathogenic
CREBBP
(T1212N +1 more)
Single nucleotide variant
(missense variant)
Rubinstein-Taybi syndrome due to CREBBP mutations
GUncertain significance
CREBBP
(W554C +1 more)
Single nucleotide variant
(missense variant)
Rubinstein-Taybi syndrome due to CREBBP mutations
GUncertain significance
CREBBP
(G1710C +1 more)
Single nucleotide variant
(missense variant)
Rubinstein-Taybi syndrome due to CREBBP mutations
+1 more
GUncertain significance
CREBBP
(E1318fs +1 more)
Deletion
(frameshift variant)
Rubinstein-Taybi syndrome due to CREBBP mutations
GLikely pathogenic
CREBBP
(G284fs)
Deletion
(frameshift variant)
Rubinstein-Taybi syndrome due to CREBBP mutations
GPathogenic
CREBBP
(E1513fs +1 more)
Deletion
(frameshift variant)
not provided
+1 more
GPathogenic
CREBBP
(P2149S +1 more)
Single nucleotide variant
(missense variant)
Rubinstein-Taybi syndrome due to CREBBP mutations
GUncertain significance
CREBBP
Single nucleotide variant
(intron variant)
Rubinstein-Taybi syndrome due to CREBBP mutations
GUncertain significance
CREBBP
(N2148I +1 more)
Single nucleotide variant
(missense variant)
Rubinstein-Taybi syndrome due to CREBBP mutations
GUncertain significance
CREBBP
(T1897I +1 more)
Single nucleotide variant
(missense variant)
Rubinstein-Taybi syndrome
+1 more
GUncertain significance
CREBBP
Single nucleotide variant
(synonymous variant)
Rubinstein-Taybi syndrome
+1 more
GConflicting classifications of pathogenicity
CREBBP
(S1287I +1 more)
Single nucleotide variant
(missense variant)
CREBBP-related condition
+3 more
GUncertain significance
CREBBP
(P1265S +1 more)
Single nucleotide variant
(missense variant)
Rubinstein-Taybi syndrome due to CREBBP mutations
GUncertain significance
CREBBP
Single nucleotide variant
(splice acceptor variant)
Rubinstein-Taybi syndrome due to CREBBP mutations
GLikely pathogenic
CREBBP
(N1124S +1 more)
Single nucleotide variant
(missense variant)
not specified
+2 more
GUncertain significance
CREBBP
(C1685W +1 more)
Single nucleotide variant
(missense variant)
Rubinstein-Taybi syndrome due to CREBBP mutations
GPathogenic
CREBBP
Deletion
(inframe_deletion)
Rubinstein-Taybi syndrome due to CREBBP mutations
GPathogenic
CREBBP
(P775fs +1 more)
Insertion
(frameshift variant)
Rubinstein-Taybi syndrome due to CREBBP mutations
GPathogenic
CREBBP
(R1564S +1 more)
Single nucleotide variant
(missense variant)
Rubinstein-Taybi syndrome due to CREBBP mutations
GUncertain significance
CREBBP
(D1397E +1 more)
Single nucleotide variant
(missense variant)
Rubinstein-Taybi syndrome due to CREBBP mutations
GLikely pathogenic
CREBBP
(Q1866* +1 more)
Single nucleotide variant
(nonsense)
Rubinstein-Taybi syndrome due to CREBBP mutations
GPathogenic
CREBBP
(E1240Q +1 more)
Single nucleotide variant
(missense variant)
Rubinstein-Taybi syndrome due to CREBBP mutations
GLikely pathogenic
CREBBP
(D601fs +1 more)
Deletion
(frameshift variant)
Rubinstein-Taybi syndrome due to CREBBP mutations
GPathogenic
CREBBP
(M1950fs +1 more)
Indel
Rubinstein-Taybi syndrome due to CREBBP mutations
+1 more
GLikely pathogenic
CREBBP
Single nucleotide variant
(synonymous variant)
Rubinstein-Taybi syndrome due to CREBBP mutations
+2 more
GLikely benign
CREBBP
Single nucleotide variant
(synonymous variant)
Rubinstein-Taybi syndrome due to CREBBP mutations
+2 more
GLikely benign
CREBBP
Single nucleotide variant
(synonymous variant)
Rubinstein-Taybi syndrome
+3 more
GLikely benign
CREBBP
Single nucleotide variant
(intron variant)
Rubinstein-Taybi syndrome
+2 more
GLikely benign
CREBBP
(A606P +1 more)
Single nucleotide variant
(missense variant)
Rubinstein-Taybi syndrome due to CREBBP mutations
GLikely pathogenic
EP300
(G152S)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+4 more
GConflicting classifications of pathogenicity
CREBBP
(R1626L +1 more)
Single nucleotide variant
(missense variant)
Rubinstein-Taybi syndrome due to CREBBP mutations
GLikely pathogenic
CREBBP
(T1894A +1 more)
Single nucleotide variant
(missense variant)
Rubinstein-Taybi syndrome
+2 more
GConflicting classifications of pathogenicity
CREBBP
Duplication
(inframe_insertion)
Rubinstein-Taybi syndrome due to CREBBP mutations
GUncertain significance
CREBBP
(V293E)
Single nucleotide variant
(missense variant)
Rubinstein-Taybi syndrome due to CREBBP mutations
GUncertain significance
CREBBP
(P1153T +1 more)
Single nucleotide variant
(missense variant)
Rubinstein-Taybi syndrome due to CREBBP mutations
GUncertain significance
CREBBP
(A1532V +1 more)
Single nucleotide variant
(missense variant)
Menke-Hennekam syndrome 1
+2 more
GUncertain significance
CREBBP
(K1276* +1 more)
Single nucleotide variant
(nonsense)
Rubinstein-Taybi syndrome due to CREBBP mutations
GLikely pathogenic
CREBBP
(R1102fs +1 more)
Deletion
(frameshift variant)
Rubinstein-Taybi syndrome due to CREBBP mutations
GLikely pathogenic
CREBBP
Single nucleotide variant
(splice acceptor variant)
Rubinstein-Taybi syndrome due to CREBBP mutations
GLikely pathogenic
CREBBP
(L1300W +1 more)
Single nucleotide variant
(missense variant)
Rubinstein-Taybi syndrome due to CREBBP mutations
GUncertain significance
CREBBP
(R730Q +1 more)
Single nucleotide variant
(missense variant)
Rubinstein-Taybi syndrome due to CREBBP mutations
+3 more
GConflicting classifications of pathogenicity
CREBBP
(K1045N +1 more)
Single nucleotide variant
(missense variant)
Rubinstein-Taybi syndrome due to CREBBP mutations
GUncertain significance
CREBBP
(Q1783R +1 more)
Single nucleotide variant
(missense variant)
Menke-Hennekam syndrome 1
+1 more
GUncertain significance
CREBBP
(V238M)
Single nucleotide variant
(missense variant)
CREBBP-related condition
+4 more
GConflicting classifications of pathogenicity
CREBBP
Microsatellite
(inframe_deletion)
Rubinstein-Taybi syndrome
+3 more
GUncertain significance
CREBBP
(Y2070* +1 more)
Single nucleotide variant
(nonsense)
Rubinstein-Taybi syndrome due to CREBBP mutations
GPathogenic
CREBBP
(M828I +1 more)
Single nucleotide variant
(missense variant)
not provided
+4 more
GConflicting classifications of pathogenicity
CREBBP
Deletion
(splice donor variant)
Rubinstein-Taybi syndrome due to CREBBP mutations
GPathogenic
CREBBP
(P1965S +1 more)
Single nucleotide variant
(missense variant)
Rubinstein-Taybi syndrome due to CREBBP mutations
GUncertain significance
CREBBP
(S1040L +1 more)
Single nucleotide variant
(missense variant)
Rubinstein-Taybi syndrome due to CREBBP mutations
+3 more
GUncertain significance
CREBBP
(Y1176C +1 more)
Single nucleotide variant
(missense variant)
Menke-Hennekam syndrome 1
+2 more
GUncertain significance
CREBBP
Single nucleotide variant
(intron variant)
Rubinstein-Taybi syndrome
+3 more
GBenign
CREBBP
(G1336A +1 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
EP300
Single nucleotide variant
(intron variant)
not provided
+4 more
GBenign/Likely benign
CREBBP
(P911L +1 more)
Single nucleotide variant
(missense variant)
Rubinstein-Taybi syndrome
+3 more
GBenign/Likely benign
CREBBP
(P1908A +1 more)
Single nucleotide variant
(missense variant)
Rubinstein-Taybi syndrome
+4 more
GConflicting classifications of pathogenicity
CREBBP
Single nucleotide variant
(synonymous variant)
Rubinstein-Taybi syndrome
+4 more
GLikely benign
CREBBP
(Q2092* +1 more)
Single nucleotide variant
(nonsense)
Rubinstein-Taybi syndrome due to CREBBP mutations
GLikely pathogenic
CREBBP
Deletion
(splice acceptor variant +1 more)
Rubinstein-Taybi syndrome due to CREBBP mutations
GPathogenic
CREBBP
Single nucleotide variant
(intron variant)
Rubinstein-Taybi syndrome due to CREBBP mutations
+2 more
GLikely benign
CREBBP
(D1343N +1 more)
Single nucleotide variant
(missense variant)
Rubinstein-Taybi syndrome due to CREBBP mutations
+1 more
GUncertain significance
CREBBP
(G2242E +1 more)
Single nucleotide variant
(missense variant)
Rubinstein-Taybi syndrome due to CREBBP mutations
+1 more
GUncertain significance
CREBBP
(Y1260C +1 more)
Single nucleotide variant
(missense variant)
Rubinstein-Taybi syndrome due to CREBBP mutations
GUncertain significance
CREBBP
Deletion
(splice donor variant)
Rubinstein-Taybi syndrome due to CREBBP mutations
GPathogenic
CREBBP
(S1649F +1 more)
Single nucleotide variant
(missense variant)
Menke-Hennekam syndrome 1
+2 more
GLikely pathogenic
EP300
(G232A)
Single nucleotide variant
(missense variant)
Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
+3 more
GConflicting classifications of pathogenicity
CREBBP
(P505A +1 more)
Single nucleotide variant
(missense variant)
Rubinstein-Taybi syndrome due to CREBBP mutations
GLikely benign
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