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Items: 68

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
EP300
(S35A)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
EP300
Single nucleotide variant
(synonymous variant)
not specified
+3 more
GBenign/Likely benign
EP300
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GConflicting classifications of pathogenicity
EP300
(Q190R)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
EP300
(M192L)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
EP300
(G211S)
Single nucleotide variant
(missense variant)
Rubinstein-Taybi syndrome due to CREBBP mutations
+6 more
GBenign
EP300
Deletion
(intron variant)
not provided
+3 more
GBenign
EP300
(M247V)
Single nucleotide variant
(missense variant)
Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
+2 more
GConflicting classifications of pathogenicity
EP300
(M289V)
Single nucleotide variant
(missense variant)
EP300-related condition
+3 more
GBenign/Likely benign
EP300
Single nucleotide variant
(synonymous variant)
not specified
+2 more
GBenign
EP300
Single nucleotide variant
(intron variant)
not specified
+2 more
GBenign
EP300
(P481L)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
EP300
(Q485K)
Single nucleotide variant
(missense variant)
EP300-related condition
+1 more
GConflicting classifications of pathogenicity
EP300
Single nucleotide variant
(synonymous variant)
Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
+2 more
GConflicting classifications of pathogenicity
EP300
(P525S)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
EP300
Single nucleotide variant
(synonymous variant)
not provided
GUncertain significance
EP300
(M669V)
Single nucleotide variant
(missense variant)
Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
+1 more
GConflicting classifications of pathogenicity
EP300
Single nucleotide variant
(intron variant)
not provided
+3 more
GBenign
EP300
Single nucleotide variant
(synonymous variant +1 more)
EP300-related condition
+3 more
GBenign/Likely benign
EP300
(S697R)
Single nucleotide variant
(missense variant +1 more)
not specified
+3 more
GBenign/Likely benign
EP300
Single nucleotide variant
(intron variant)
not specified
+2 more
GBenign
EP300
(P747L +1 more)
Single nucleotide variant
(missense variant)
not specified
+2 more
GBenign/Likely benign
EP300
Single nucleotide variant
(intron variant)
EP300-related condition
+2 more
GLikely benign
EP300
(Y751C +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
EP300
(I807V +1 more)
Single nucleotide variant
(missense variant)
EP300-related condition
+2 more
GConflicting classifications of pathogenicity
EP300
Single nucleotide variant
(synonymous variant)
not provided
+5 more
GBenign/Likely benign
EP300
(S822fs +1 more)
Duplication
(frameshift variant)
not provided
GPathogenic
EP300
(I859T +1 more)
Single nucleotide variant
(missense variant)
not specified
+2 more
GBenign
EP300
(P925T +1 more)
Single nucleotide variant
(missense variant)
Rubinstein-Taybi syndrome due to CREBBP mutations
+5 more
GBenign/Likely benign
EP300
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GConflicting classifications of pathogenicity
EP300, LOC126863158
(I997V +1 more)
Single nucleotide variant
(missense variant)
Menke-Hennekam syndrome 2
+3 more
GBenign
EP300, LOC126863158
Single nucleotide variant
(synonymous variant)
EP300-related condition
+3 more
GBenign
EP300, LOC126863158
Single nucleotide variant
(synonymous variant)
not provided
+2 more
GBenign/Likely benign
LOC126863158, EP300
Single nucleotide variant
(synonymous variant)
EP300-related condition
+3 more
GConflicting classifications of pathogenicity
EP300
Duplication
(intron variant)
not specified
+2 more
GBenign/Likely benign
EP300
Deletion
(intron variant)
not specified
+2 more
GConflicting classifications of pathogenicity
EP300
Single nucleotide variant
(synonymous variant)
Menke-Hennekam syndrome 2
+3 more
GBenign
EP300
(Q1110H +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
EP300
Single nucleotide variant
(synonymous variant)
EP300-related condition
+3 more
GBenign/Likely benign
EP300
Single nucleotide variant
(intron variant)
EP300-related condition
+2 more
GConflicting classifications of pathogenicity
EP300
Microsatellite
(splice donor variant)
not provided
GLikely pathogenic
EP300
Single nucleotide variant
(intron variant)
not specified
+2 more
GBenign
EP300
Single nucleotide variant
(intron variant)
not specified
+1 more
GBenign
EP300
(Y1355* +1 more)
Single nucleotide variant
(nonsense)
not provided
GPathogenic
EP300
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GConflicting classifications of pathogenicity
EP300
Single nucleotide variant
(intron variant)
not specified
+2 more
GBenign
EP300
Single nucleotide variant
(intron variant)
not specified
+2 more
GBenign
EP300
(N1575S +1 more)
Single nucleotide variant
(missense variant)
Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
+2 more
GConflicting classifications of pathogenicity
EP300
Single nucleotide variant
(intron variant)
not specified
+2 more
GConflicting classifications of pathogenicity
EP300
(S1716T +1 more)
Single nucleotide variant
(missense variant)
EP300-related condition
+3 more
GBenign/Likely benign
EP300
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GConflicting classifications of pathogenicity
EP300
Single nucleotide variant
(synonymous variant)
not specified
+2 more
GBenign
EP300
(P1858A +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
EP300
(P1895S +1 more)
Single nucleotide variant
(missense variant)
Menke-Hennekam syndrome 2
+4 more
GConflicting classifications of pathogenicity
EP300
(Q1904P +1 more)
Single nucleotide variant
(missense variant)
EP300-related condition
+2 more
GConflicting classifications of pathogenicity
EP300
Single nucleotide variant
(synonymous variant)
Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
+2 more
GBenign/Likely benign
EP300
(M1972V +1 more)
Single nucleotide variant
(missense variant)
not specified
+2 more
GConflicting classifications of pathogenicity
EP300
(P1986L +1 more)
Single nucleotide variant
(missense variant)
EP300-related condition
+2 more
GConflicting classifications of pathogenicity
EP300
Single nucleotide variant
(synonymous variant)
Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
+2 more
GConflicting classifications of pathogenicity
EP300
(M2130I +1 more)
Single nucleotide variant
(missense variant)
EP300-related condition
+3 more
GBenign/Likely benign
EP300
Single nucleotide variant
(synonymous variant)
not specified
+2 more
GBenign/Likely benign
EP300
(Q2223P +1 more)
Single nucleotide variant
(missense variant)
not specified
+2 more
GBenign
EP300
(N2238S +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
EP300
Single nucleotide variant
(synonymous variant)
not specified
+2 more
GBenign/Likely benign
EP300
(Q2268del +1 more)
Deletion
(inframe_deletion)
not provided
+4 more
GBenign/Likely benign
EP300
Single nucleotide variant
(synonymous variant)
Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
+3 more
GBenign/Likely benign
EP300
Single nucleotide variant
(synonymous variant)
Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
+1 more
GConflicting classifications of pathogenicity
EP300
Microsatellite
(3 prime UTR variant)
not specified
+1 more
GBenign
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