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Links from MedGen

Items: 7

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
EP300
(L2385F +1 more)
Single nucleotide variant
(missense variant)
Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
+1 more
GUncertain significance
AXIN2
Single nucleotide variant
(splice acceptor variant)
Colorectal carcinoma
+1 more
GLikely pathogenic
EP300
(T278fs)
Deletion
(frameshift variant)
Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
+1 more
GPathogenic
EP300
(P2078R +1 more)
Single nucleotide variant
(missense variant)
EP300-related disorder
+2 more
GLikely benign
EP300
Single nucleotide variant
(synonymous variant)
Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
+2 more
GBenign/Likely benign
EP300
Deletion
Colorectal carcinoma
+2 more
GPathogenic
EP300
(R1529* +1 more)
Single nucleotide variant
(nonsense)
Colorectal carcinoma
+2 more
GPathogenic
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