U.S. flag

An official website of the United States government

Format
Items per page
Sort by
Choose Destination

Links from MedGen

Items: 1 to 100 of 135

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CREBBP
(R2151Q +1 more)
Single nucleotide variant
(missense variant)
Menke-Hennekam syndrome 1
+1 more
GUncertain significance
CREBBP
(C1685F +1 more)
Single nucleotide variant
(missense variant)
Menke-Hennekam syndrome 1
GLikely pathogenic
CREBBP
(R370G)
Single nucleotide variant
(missense variant)
Menke-Hennekam syndrome 1
GUncertain significance
CREBBP
(T1182I +1 more)
Single nucleotide variant
(missense variant)
Rubinstein-Taybi syndrome due to CREBBP mutations
+1 more
GLikely benign
CREBBP
Duplication
(inframe_insertion)
Menke-Hennekam syndrome 1
GUncertain significance
CREBBP
Single nucleotide variant
(intron variant)
Menke-Hennekam syndrome 1
GUncertain significance
CREBBP
(K1459T +1 more)
Single nucleotide variant
(missense variant)
Rubinstein-Taybi syndrome due to CREBBP mutations
+2 more
GUncertain significance
CREBBP
(S2003P +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
CREBBP
(G2348R +1 more)
Single nucleotide variant
(missense variant)
Menke-Hennekam syndrome 1
GUncertain significance
CREBBP
(I1597F +1 more)
Single nucleotide variant
(missense variant)
Menke-Hennekam syndrome 1
GUncertain significance
CREBBP
(P1967S +1 more)
Single nucleotide variant
(missense variant)
Menke-Hennekam syndrome 1
GLikely benign
CREBBP
(T2299M +1 more)
Single nucleotide variant
(missense variant)
Menke-Hennekam syndrome 1
GUncertain significance
CREBBP
(R1748G +1 more)
Single nucleotide variant
(missense variant)
Menke-Hennekam syndrome 1
GLikely pathogenic
CREBBP
(Q1815P +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GPathogenic/Likely pathogenic
CREBBP
(T1489A +1 more)
Single nucleotide variant
(missense variant)
Menke-Hennekam syndrome 1
GUncertain significance
CREBBP
(S1287I +1 more)
Single nucleotide variant
(missense variant)
CREBBP-related condition
+3 more
GUncertain significance
CREBBP
(N1124S +1 more)
Single nucleotide variant
(missense variant)
not specified
+2 more
GUncertain significance
CREBBP
(S1977fs +1 more)
Duplication
(frameshift variant)
Menke-Hennekam syndrome 1
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
+3 more
GLikely benign
CREBBP
Single nucleotide variant
(intron variant)
Rubinstein-Taybi syndrome
+2 more
GLikely benign
CREBBP
(T1894A +1 more)
Single nucleotide variant
(missense variant)
Rubinstein-Taybi syndrome
+2 more
GConflicting classifications of pathogenicity
CREBBP
(A1532V +1 more)
Single nucleotide variant
(missense variant)
Menke-Hennekam syndrome 1
+2 more
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
(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
(M828I +1 more)
Single nucleotide variant
(missense variant)
not provided
+4 more
GConflicting classifications of pathogenicity
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
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
(T1833del +1 more)
Microsatellite
(inframe_deletion)
Menke-Hennekam syndrome 1
GLikely pathogenic
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
(S1649F +1 more)
Single nucleotide variant
(missense variant)
Menke-Hennekam syndrome 1
+2 more
GLikely pathogenic
CREBBP, LOC130058357
Single nucleotide variant
(synonymous variant)
Tip-toe gait
+2 more
GUncertain significance
CREBBP
Single nucleotide variant
(synonymous variant)
Menke-Hennekam syndrome 1
GUncertain significance
CREBBP
(I2395T +1 more)
Single nucleotide variant
(missense variant)
Rubinstein-Taybi syndrome
+2 more
GConflicting classifications of pathogenicity
CREBBP
(P2335L +1 more)
Single nucleotide variant
(missense variant)
Menke-Hennekam syndrome 1
GUncertain significance
CREBBP
(F686I +1 more)
Single nucleotide variant
(missense variant)
Menke-Hennekam syndrome 1
GUncertain significance
CREBBP
(P435L +1 more)
Single nucleotide variant
(missense variant)
Menke-Hennekam syndrome 1
GUncertain significance
CREBBP
(V914M +1 more)
Single nucleotide variant
(missense variant)
Menke-Hennekam syndrome 1
+3 more
GConflicting classifications of pathogenicity
CREBBP
(N1312K +1 more)
Single nucleotide variant
(missense variant)
Menke-Hennekam syndrome 1
GUncertain significance
CREBBP
(M768K +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+2 more
GUncertain significance
CREBBP
(P775L +1 more)
Single nucleotide variant
(missense variant)
Menke-Hennekam syndrome 1
+2 more
GConflicting classifications of pathogenicity
CREBBP
(M2004I +1 more)
Single nucleotide variant
(missense variant)
Menke-Hennekam syndrome 1
+3 more
GUncertain significance
CREBBP
(S807T +1 more)
Single nucleotide variant
(missense variant)
Rubinstein-Taybi syndrome due to CREBBP mutations
+2 more
GConflicting classifications of pathogenicity
CREBBP
(M835I +1 more)
Single nucleotide variant
(missense variant)
Rubinstein-Taybi syndrome due to CREBBP mutations
+1 more
GUncertain significance
CREBBP
Single nucleotide variant
(intron variant)
Rubinstein-Taybi syndrome
+2 more
GBenign/Likely benign
CREBBP
Single nucleotide variant
(intron variant)
Menke-Hennekam syndrome 1
+2 more
GLikely benign
CREBBP
Single nucleotide variant
(synonymous variant)
Menke-Hennekam syndrome 1
+4 more
GBenign/Likely benign
CREBBP
Single nucleotide variant
(synonymous variant)
Menke-Hennekam syndrome 1
+2 more
GLikely benign
CREBBP
Single nucleotide variant
(synonymous variant)
Menke-Hennekam syndrome 1
+2 more
GLikely benign
CREBBP
Single nucleotide variant
(synonymous variant)
Menke-Hennekam syndrome 1
+2 more
GLikely benign
CREBBP
Single nucleotide variant
(synonymous variant)
not provided
+4 more
GLikely benign
CREBBP
Single nucleotide variant
(synonymous variant)
Rubinstein-Taybi syndrome
+4 more
GLikely benign
CREBBP
Single nucleotide variant
(synonymous variant)
Menke-Hennekam syndrome 1
+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
(intron variant)
Rubinstein-Taybi syndrome
+2 more
GBenign/Likely benign
CREBBP
Single nucleotide variant
(synonymous variant)
Rubinstein-Taybi syndrome due to CREBBP mutations
+3 more
GBenign/Likely benign
CREBBP
Single nucleotide variant
(synonymous variant)
Rubinstein-Taybi syndrome due to CREBBP mutations
+3 more
GLikely benign
CREBBP
Single nucleotide variant
(synonymous variant)
Inborn genetic diseases
+4 more
GBenign/Likely benign
CREBBP
Single nucleotide variant
(synonymous variant)
Rubinstein-Taybi syndrome due to CREBBP mutations
+3 more
GBenign/Likely benign
CREBBP
Single nucleotide variant
(synonymous variant)
Rubinstein-Taybi syndrome due to CREBBP mutations
+3 more
GBenign/Likely benign
CREBBP
(T258A)
Single nucleotide variant
(missense variant)
Rubinstein-Taybi syndrome due to CREBBP mutations
+2 more
GUncertain significance
CREBBP
(M491V +1 more)
Single nucleotide variant
(missense variant)
Rubinstein-Taybi syndrome due to CREBBP mutations
+2 more
GUncertain significance
CREBBP
(E1724K +1 more)
Single nucleotide variant
(missense variant)
not provided
GPathogenic
CREBBP
(C1710R +1 more)
Single nucleotide variant
(missense variant)
Menke-Hennekam syndrome 1
GPathogenic
CREBBP
(A954T +1 more)
Single nucleotide variant
(missense variant)
Rubinstein-Taybi syndrome due to CREBBP mutations
+2 more
GUncertain significance
CREBBP
(Q507R +1 more)
Single nucleotide variant
(missense variant)
Rubinstein-Taybi syndrome
+3 more
GConflicting classifications of pathogenicity
CREBBP
(A1782T +1 more)
Single nucleotide variant
(missense variant)
Menke-Hennekam syndrome 1
GLikely pathogenic
CREBBP
Single nucleotide variant
(synonymous variant)
Rubinstein-Taybi syndrome
+3 more
GLikely benign
CREBBP
Single nucleotide variant
(synonymous variant)
Rubinstein-Taybi syndrome
+3 more
GLikely benign
CREBBP
Single nucleotide variant
(synonymous variant)
Rubinstein-Taybi syndrome
+3 more
GLikely benign
CREBBP
Single nucleotide variant
(synonymous variant)
Rubinstein-Taybi syndrome
+4 more
GLikely benign
CREBBP
Single nucleotide variant
(synonymous variant)
Menke-Hennekam syndrome 1
+3 more
GLikely benign
CREBBP
(E1007D +1 more)
Single nucleotide variant
(missense variant)
not specified
+5 more
GBenign/Likely benign
CREBBP
(A828S +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+4 more
GBenign/Likely benign
CREBBP
Single nucleotide variant
(synonymous variant)
not specified
+5 more
GBenign/Likely benign
CREBBP
Single nucleotide variant
(synonymous variant)
Menke-Hennekam syndrome 1
+4 more
GBenign/Likely benign
CREBBP
Single nucleotide variant
(synonymous variant)
Menke-Hennekam syndrome 1
+3 more
GLikely benign
CREBBP
Single nucleotide variant
(synonymous variant)
Rubinstein-Taybi syndrome due to CREBBP mutations
+4 more
GBenign/Likely benign
CREBBP
Single nucleotide variant
(synonymous variant)
Rubinstein-Taybi syndrome due to CREBBP mutations
+4 more
GBenign/Likely benign
CREBBP
(V1914M +1 more)
Single nucleotide variant
(missense variant)
Rubinstein-Taybi syndrome due to CREBBP mutations
+2 more
GConflicting classifications of pathogenicity
CREBBP
Single nucleotide variant
(intron variant)
Menke-Hennekam syndrome 1
+2 more
GUncertain significance
CREBBP
(P1946Q +1 more)
Single nucleotide variant
(missense variant)
CREBBP-related condition
+4 more
GConflicting classifications of pathogenicity
CREBBP
(N1789S +1 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GConflicting classifications of pathogenicity
CREBBP
(F1633del +1 more)
Microsatellite
(inframe_deletion)
Inborn genetic diseases
+3 more
GConflicting classifications of pathogenicity
CREBBP
Single nucleotide variant
(synonymous variant)
Rubinstein-Taybi syndrome due to CREBBP mutations
+5 more
GBenign/Likely benign
CREBBP
Single nucleotide variant
(synonymous variant)
Rubinstein-Taybi syndrome
+4 more
GBenign/Likely benign
CREBBP
Single nucleotide variant
(synonymous variant)
Rubinstein-Taybi syndrome
+5 more
GLikely benign
CREBBP
Single nucleotide variant
(synonymous variant)
Rubinstein-Taybi syndrome due to CREBBP mutations
+5 more
GBenign/Likely benign
CREBBP
(A2024V +1 more)
Single nucleotide variant
(missense variant)
Rubinstein-Taybi syndrome due to CREBBP mutations
+4 more
GUncertain significance
CREBBP
Single nucleotide variant
(synonymous variant)
Rubinstein-Taybi syndrome
+3 more
GConflicting classifications of pathogenicity
CREBBP
(R1867Q +1 more)
Single nucleotide variant
(missense variant)
Rubinstein-Taybi syndrome
+1 more
GPathogenic/Likely pathogenic
Format
Items per page
Sort by
Choose Destination