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Items: 1 to 100 of 137

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
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
+4 more
GBenign/Likely benign
CREBBP
Single nucleotide variant
(synonymous variant)
Inborn genetic diseases
+5 more
GBenign/Likely benign
CREBBP
(R2249H +1 more)
Single nucleotide variant
(missense variant)
Rubinstein-Taybi syndrome
+1 more
GUncertain significance
CREBBP
Single nucleotide variant
(synonymous variant)
Rubinstein-Taybi syndrome
+3 more
GBenign
CREBBP
(G2229S +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+3 more
GBenign
CREBBP
Single nucleotide variant
(synonymous variant)
Rubinstein-Taybi syndrome due to CREBBP mutations
+4 more
GConflicting classifications of pathogenicity
CREBBP
Deletion
(inframe_deletion)
Inborn genetic diseases
+2 more
GConflicting classifications of pathogenicity
CREBBP
(M2221L +1 more)
Single nucleotide variant
(missense variant)
Rubinstein-Taybi syndrome
+3 more
GConflicting classifications of pathogenicity
CREBBP
Deletion
(inframe_deletion)
not specified
+3 more
GConflicting classifications of pathogenicity
CREBBP
(Q2208H +1 more)
Single nucleotide variant
(missense variant)
Rubinstein-Taybi syndrome
+3 more
GBenign/Likely benign
CREBBP
Single nucleotide variant
(synonymous variant)
Rubinstein-Taybi syndrome due to CREBBP mutations
+5 more
GBenign/Likely benign
CREBBP
Microsatellite
(inframe_deletion)
not specified
+3 more
GBenign/Likely benign
CREBBP
Microsatellite
(inframe_insertion)
Rubinstein-Taybi syndrome due to CREBBP mutations
+5 more
GConflicting classifications of pathogenicity
CREBBP
Single nucleotide variant
(synonymous variant)
Rubinstein-Taybi syndrome
+3 more
GBenign
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 due to CREBBP mutations
+5 more
GBenign/Likely benign
CREBBP
(S2184G +1 more)
Single nucleotide variant
(missense variant)
Rubinstein-Taybi syndrome due to CREBBP mutations
+2 more
GUncertain significance
CREBBP
(R2151P +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CREBBP
(G2114S +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+3 more
GConflicting classifications of pathogenicity
CREBBP
(P2077S +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CREBBP
Single nucleotide variant
(synonymous variant)
Rubinstein-Taybi syndrome
+1 more
GConflicting classifications of pathogenicity
CREBBP
Single nucleotide variant
(synonymous variant)
CREBBP-related condition
+4 more
GConflicting classifications of pathogenicity
CREBBP
Single nucleotide variant
(synonymous variant)
Rubinstein-Taybi syndrome
+2 more
GConflicting classifications of pathogenicity
CREBBP
Single nucleotide variant
(synonymous variant)
Inborn genetic diseases
+3 more
GBenign/Likely benign
CREBBP
Single nucleotide variant
(synonymous variant)
Rubinstein-Taybi syndrome due to CREBBP mutations
+5 more
GBenign
CREBBP
Deletion
(inframe_deletion)
Menke-Hennekam syndrome 1
+4 more
GUncertain significance
CREBBP
Single nucleotide variant
(synonymous variant)
not provided
+4 more
GBenign/Likely benign
CREBBP
(N1978S +1 more)
Single nucleotide variant
(missense variant)
Rubinstein-Taybi syndrome
+3 more
GBenign/Likely benign
CREBBP
(P1948L +1 more)
Single nucleotide variant
(missense variant)
Rubinstein-Taybi syndrome
+2 more
GConflicting classifications of pathogenicity
CREBBP
Single nucleotide variant
(synonymous variant)
CREBBP-related condition
+4 more
GConflicting classifications of pathogenicity
CREBBP
(S1934P +1 more)
Single nucleotide variant
(missense variant)
CREBBP-related condition
+4 more
GConflicting classifications of pathogenicity
CREBBP
(M1916T +1 more)
Single nucleotide variant
(missense variant)
not provided
+3 more
GConflicting classifications of pathogenicity
CREBBP
(A1907T +1 more)
Single nucleotide variant
(missense variant)
CREBBP-related condition
+5 more
GConflicting classifications of pathogenicity
CREBBP
Single nucleotide variant
(synonymous variant)
not provided
+3 more
GBenign
CREBBP
(R1867G +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CREBBP
(R1866H +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CREBBP
Single nucleotide variant
(synonymous variant)
not provided
GUncertain significance
CREBBP
Single nucleotide variant
(synonymous variant)
Rubinstein-Taybi syndrome
+3 more
GBenign
CREBBP
Single nucleotide variant
(synonymous variant)
Inborn genetic diseases
+4 more
GBenign/Likely benign
CREBBP
Single nucleotide variant
(synonymous variant)
CREBBP-related condition
+2 more
GConflicting classifications of pathogenicity
CREBBP
Single nucleotide variant
(synonymous variant)
Rubinstein-Taybi syndrome
+1 more
GConflicting classifications of pathogenicity
CREBBP
(C1723Y +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CREBBP
Single nucleotide variant
(synonymous variant)
Rubinstein-Taybi syndrome
+5 more
GBenign/Likely benign
CREBBP
Single nucleotide variant
(synonymous variant)
Rubinstein-Taybi syndrome
+3 more
GBenign
CREBBP
(P1608T +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+5 more
GBenign/Likely benign
CREBBP
Single nucleotide variant
(intron variant)
Rubinstein-Taybi syndrome
+1 more
GConflicting classifications of pathogenicity
CREBBP
Single nucleotide variant
(intron variant)
Rubinstein-Taybi syndrome
+2 more
GBenign
CREBBP
Single nucleotide variant
(synonymous variant)
Rubinstein-Taybi syndrome
+1 more
GConflicting classifications of pathogenicity
CREBBP
(D1543G +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CREBBP
Single nucleotide variant
(synonymous variant)
not specified
GLikely benign
CREBBP
(Y1503* +1 more)
Single nucleotide variant
(nonsense)
not provided
GPathogenic
CREBBP
Single nucleotide variant
(synonymous variant)
CREBBP-related condition
+6 more
GBenign/Likely benign
CREBBP
(P1494R +1 more)
Single nucleotide variant
(missense variant)
not provided
GLikely pathogenic
CREBBP
(C1474Y +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CREBBP
Single nucleotide variant
(synonymous variant)
Rubinstein-Taybi syndrome
+6 more
GBenign/Likely benign
CREBBP
(R1446C +1 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GConflicting classifications of pathogenicity
CREBBP
Single nucleotide variant
(intron variant)
CREBBP-related condition
+3 more
GConflicting classifications of pathogenicity
CREBBP
(R1427G +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CREBBP
Single nucleotide variant
(synonymous variant)
not provided
GUncertain significance
CREBBP
Single nucleotide variant
(intron variant)
Rubinstein-Taybi syndrome
+4 more
GConflicting classifications of pathogenicity
CREBBP
(T1294fs +1 more)
Deletion
(frameshift variant)
not provided
GPathogenic
CREBBP
Single nucleotide variant
(synonymous variant)
CREBBP-related condition
+3 more
GConflicting classifications of pathogenicity
CREBBP
Single nucleotide variant
(intron variant)
Rubinstein-Taybi syndrome
+2 more
GConflicting classifications of pathogenicity
CREBBP
Single nucleotide variant
(splice donor variant)
not provided
+1 more
GPathogenic
CREBBP
(N1310S +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
CREBBP
Single nucleotide variant
(intron variant)
Rubinstein-Taybi syndrome
+2 more
GBenign
CREBBP
Single nucleotide variant
(intron variant)
Menke-Hennekam syndrome 1
+4 more
GBenign/Likely benign
CREBBP
(Q1187E +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CREBBP
Deletion
(intron variant)
Rubinstein-Taybi syndrome
+4 more
GBenign/Likely benign
CREBBP
(Q1113* +1 more)
Single nucleotide variant
(nonsense)
not provided
GPathogenic
CREBBP
(P1053L +1 more)
Single nucleotide variant
(missense variant)
CREBBP-related condition
+4 more
GBenign/Likely benign
CREBBP
(V1048L +1 more)
Single nucleotide variant
(missense variant)
CREBBP-related condition
+1 more
GUncertain significance
CREBBP
(S1043L +1 more)
Single nucleotide variant
(missense variant)
Rubinstein-Taybi syndrome due to CREBBP mutations
+5 more
GBenign/Likely benign
CREBBP
(S1030F +1 more)
Single nucleotide variant
(missense variant)
CREBBP-related condition
+3 more
GConflicting classifications of pathogenicity
CREBBP
Single nucleotide variant
(intron variant)
CREBBP-related condition
+2 more
GConflicting classifications of pathogenicity
CREBBP
(P993S +1 more)
Single nucleotide variant
(missense variant)
Rubinstein-Taybi syndrome
+1 more
GConflicting classifications of pathogenicity
CREBBP
(V992I +1 more)
Single nucleotide variant
(missense variant)
Rubinstein-Taybi syndrome
+3 more
GBenign
CREBBP
Single nucleotide variant
(synonymous variant)
Rubinstein-Taybi syndrome due to CREBBP mutations
+5 more
GBenign/Likely benign
CREBBP
(N984Y +1 more)
Single nucleotide variant
(missense variant)
not provided
+3 more
GConflicting classifications of pathogenicity
CREBBP
Single nucleotide variant
(synonymous variant)
Rubinstein-Taybi syndrome
+2 more
GConflicting classifications of pathogenicity
CREBBP
(A981T +1 more)
Single nucleotide variant
(missense variant)
Rubinstein-Taybi syndrome
+3 more
GBenign
CREBBP
(I968T +1 more)
Single nucleotide variant
(missense variant)
Rubinstein-Taybi syndrome
+1 more
GUncertain significance
CREBBP
(A954T +1 more)
Single nucleotide variant
(missense variant)
CREBBP-related condition
+3 more
GUncertain significance
CREBBP
Single nucleotide variant
(synonymous variant)
CREBBP-related condition
+3 more
GConflicting classifications of pathogenicity
CREBBP
Single nucleotide variant
(synonymous variant)
Inborn genetic diseases
+4 more
GConflicting classifications of pathogenicity
CREBBP
(T910S +1 more)
Single nucleotide variant
(missense variant)
Rubinstein-Taybi syndrome
+4 more
GBenign/Likely benign
CREBBP
(T910A +1 more)
Single nucleotide variant
(missense variant)
not specified
+4 more
GBenign/Likely benign
CREBBP
(P899A +1 more)
Single nucleotide variant
(missense variant)
Rubinstein-Taybi syndrome
+1 more
GUncertain significance
CREBBP
(Q859fs +1 more)
Deletion
(frameshift variant)
not provided
GPathogenic
CREBBP
(S893L +1 more)
Single nucleotide variant
(missense variant)
Rubinstein-Taybi syndrome due to CREBBP mutations
+6 more
GBenign/Likely benign
CREBBP
(P858S +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+3 more
GBenign/Likely benign
CREBBP
(P857L +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
CREBBP
Single nucleotide variant
(synonymous variant)
CREBBP-related condition
+2 more
GConflicting classifications of pathogenicity
CREBBP
Single nucleotide variant
(synonymous variant)
CREBBP-related condition
+2 more
GConflicting classifications of pathogenicity
CREBBP
Single nucleotide variant
(synonymous variant)
Inborn genetic diseases
+5 more
GBenign/Likely benign
CREBBP
(P800L +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CREBBP
Deletion
(inframe_deletion)
Rubinstein-Taybi syndrome
+3 more
GConflicting classifications of pathogenicity
CREBBP
(Q771R +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+5 more
GConflicting classifications of pathogenicity
CREBBP
Single nucleotide variant
(synonymous variant)
CREBBP-related condition
+2 more
GConflicting classifications of pathogenicity
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