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Links from MedGen

Items: 1 to 100 of 986

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
EP300, LOC126863158
(T966A +1 more)
Single nucleotide variant
(missense variant)
Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
GLikely benign
EP300
Single nucleotide variant
(intron variant)
Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
GLikely benign
EP300
Single nucleotide variant
(synonymous variant)
Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
GLikely benign
EP300
Single nucleotide variant
(synonymous variant)
Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
GLikely benign
EP300
(P1610L +1 more)
Single nucleotide variant
(missense variant)
Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
GUncertain significance
EP300
(M1956V +1 more)
Single nucleotide variant
(missense variant)
Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
GUncertain significance
EP300
Single nucleotide variant
(synonymous variant)
Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
GLikely benign
EP300, LOC130067530
Single nucleotide variant
(synonymous variant)
Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
GBenign
EP300
Single nucleotide variant
(intron variant)
Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
GLikely benign
EP300
Single nucleotide variant
(intron variant)
Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
GLikely benign
EP300
(M702V)
Single nucleotide variant
(missense variant +1 more)
Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
GUncertain significance
EP300, LOC126863158
(S938Y +1 more)
Single nucleotide variant
(missense variant)
Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
GUncertain significance
EP300
(V319I)
Single nucleotide variant
(missense variant)
Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
GBenign
EP300
Single nucleotide variant
(synonymous variant)
Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
GLikely benign
EP300
Single nucleotide variant
(intron variant)
Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
GLikely benign
EP300
(L1276S +1 more)
Single nucleotide variant
(missense variant)
Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
GUncertain significance
EP300
Single nucleotide variant
(intron variant)
Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
GLikely benign
EP300
Single nucleotide variant
(synonymous variant)
Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
GLikely benign
EP300
(M556V)
Single nucleotide variant
(missense variant)
Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
GLikely benign
EP300
Single nucleotide variant
(synonymous variant)
Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
GBenign
EP300
Single nucleotide variant
(synonymous variant)
Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
GUncertain significance
EP300
Single nucleotide variant
(intron variant)
Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
GLikely benign
EP300
(P175L)
Single nucleotide variant
(missense variant)
Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
GBenign
EP300
Single nucleotide variant
(synonymous variant)
Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
GLikely benign
EP300
Single nucleotide variant
(intron variant)
Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
GLikely benign
EP300
Single nucleotide variant
(intron variant)
Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
GLikely benign
EP300
Duplication
(intron variant)
Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
GBenign
EP300
Single nucleotide variant
(synonymous variant)
Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
GBenign
EP300
(P1945S +1 more)
Single nucleotide variant
(missense variant)
Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
GBenign
EP300
(G736D +1 more)
Single nucleotide variant
(missense variant)
Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
GLikely benign
EP300
(P810L +1 more)
Single nucleotide variant
(missense variant)
Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
GUncertain significance
EP300
(G1894V +1 more)
Single nucleotide variant
(missense variant)
Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
GUncertain significance
EP300
(Q1927R +1 more)
Single nucleotide variant
(missense variant)
Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
GUncertain significance
EP300
(K1551N +1 more)
Single nucleotide variant
(missense variant)
Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
GUncertain significance
EP300, LOC126863158
Single nucleotide variant
(synonymous variant)
Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
GLikely benign
EP300
Single nucleotide variant
(synonymous variant)
Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
GBenign
EP300
Deletion
(intron variant)
Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
GLikely benign
EP300
(M675V)
Single nucleotide variant
(missense variant)
Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
GUncertain significance
EP300
(N734I +1 more)
Single nucleotide variant
(missense variant)
Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
GUncertain significance
EP300
Deletion
(intron variant)
Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
GLikely benign
EP300
(E1322D +1 more)
Single nucleotide variant
(missense variant)
Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
GUncertain significance
EP300
Single nucleotide variant
(intron variant)
Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
GLikely benign
EP300, LOC126863158
Single nucleotide variant
(synonymous variant)
Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
GLikely benign
EP300
Single nucleotide variant
(synonymous variant)
Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
GLikely benign
EP300
Single nucleotide variant
(synonymous variant)
Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
GLikely benign
EP300
(Q912H +1 more)
Single nucleotide variant
(missense variant)
Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
GBenign
EP300
(S774A +1 more)
Single nucleotide variant
(missense variant)
Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
GBenign
EP300, LOC126863158
Single nucleotide variant
(synonymous variant)
Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
GBenign
EP300
Microsatellite
(inframe_insertion)
Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
GUncertain significance
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