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Items: 1 to 100 of 1629

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
A4GALT, ACO2
+2088 more
Copy number gain
See cases
GPathogenic
LOC126863153, LOC126863154
+2088 more
Copy number gain
See cases
GPathogenic
LOC112695092, LOC112695093
+1004 more
Copy number gain
See cases
GPathogenic
LOC130067848, LOC130067849
+687 more
Copy number gain
See cases
GPathogenic
CHADL, DNAJB7
+32 more
Copy number gain
See cases
GUncertain significance
CHADL, DNAJB7
+28 more
Copy number gain
See cases
GUncertain significance
LOC130067524, LOC130067525
+27 more
Duplication
Nephronophthisis-like nephropathy 1
GUncertain significance
EP300, LOC130067528
Single nucleotide variant
not provided
GLikely benign
EP300, LOC130067528
+1 more
Single nucleotide variant
(non-coding transcript variant)
not provided
GBenign
EP300, LOC130067528
+2 more
Deletion
Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
GPathogenic
EP300
Single nucleotide variant
(5 prime UTR variant)
EP300-related condition
GLikely benign
EP300
(E3K)
Single nucleotide variant
(missense variant)
Menke-Hennekam syndrome 2
GUncertain significance
EP300
(E3D)
Single nucleotide variant
(missense variant)
Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
GUncertain significance
EP300
(N4K)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
EP300
Single nucleotide variant
(synonymous variant)
Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
+1 more
GLikely benign
EP300
(P10S)
Single nucleotide variant
(missense variant)
Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
GUncertain significance
EP300
(P10R)
Single nucleotide variant
(missense variant)
EP300-related condition
GLikely benign
EP300
(P11S)
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
GBenign
EP300, LOC130067530
(K14N)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
EP300, LOC130067530
Single nucleotide variant
(synonymous variant)
EP300-related condition
+2 more
GBenign/Likely benign
EP300, LOC130067530
(P16R)
Single nucleotide variant
(missense variant)
Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
GUncertain significance
EP300, LOC130067530
Single nucleotide variant
(synonymous variant)
Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
GBenign
EP300, LOC130067530
(S24fs)
Microsatellite
(frameshift variant)
Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
GPathogenic
EP300, LOC130067530
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
EP300, LOC130067530
Single nucleotide variant
(synonymous variant)
Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
GLikely benign
EP300, LOC130067530
(G30S)
Single nucleotide variant
(missense variant)
EP300-related condition
+1 more
GUncertain significance
EP300, LOC130067530
Single nucleotide variant
(intron variant)
EP300-related condition
GLikely benign
EP300, LOC130067530
Single nucleotide variant
(intron variant)
Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
GLikely benign
EP300, LOC130067530
Single nucleotide variant
(intron variant)
Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
GLikely benign
EP300, LOC130067530
Single nucleotide variant
(intron variant)
Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
+1 more
GBenign
EP300, LOC130067530
Insertion
(intron variant)
Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
GLikely benign
EP300, LOC130067530
Single nucleotide variant
(intron variant)
Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
GLikely benign
EP300, LOC130067530
Single nucleotide variant
(intron variant)
Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
GLikely benign
EP300, LOC130067530
Single nucleotide variant
(intron variant)
not provided
GBenign
EP300, LOC130067530
Single nucleotide variant
(intron variant)
not provided
GBenign
EP300
Single nucleotide variant
(intron variant)
not provided
GBenign
EP300
Single nucleotide variant
(intron variant)
not provided
GLikely benign
EP300
Single nucleotide variant
(intron variant)
not provided
GBenign
EP300
Single nucleotide variant
(intron variant)
not provided
+2 more
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
GUncertain significance
EP300
(S35fs)
Microsatellite
(frameshift variant)
Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
+5 more
GPathogenic/Likely pathogenic
EP300
(S35A)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
EP300
(S35C)
Single nucleotide variant
(missense variant)
Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
GUncertain significance
EP300
(F37fs)
Deletion
(frameshift variant)
Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
GPathogenic
EP300
Single nucleotide variant
(synonymous variant)
Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
GLikely benign
EP300
(D42N)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
EP300
(E46V)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
EP300
(T51A)
Single nucleotide variant
(missense variant)
Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
GUncertain significance
EP300
(T51I)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
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
+1 more
GLikely benign
EP300
(N57D)
Single nucleotide variant
(missense variant)
Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
+1 more
GUncertain significance
EP300
(N57S)
Single nucleotide variant
(missense variant)
EP300-related condition
+1 more
GUncertain significance
EP300
(G59R)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
EP300
(Q63H)
Single nucleotide variant
(missense variant)
Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
GUncertain significance
EP300
(L64P)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
EP300
(Q65R)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
EP300
(G69D)
Single nucleotide variant
(missense variant)
Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
GBenign
EP300
(M70V)
Single nucleotide variant
(missense variant)
Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
GBenign
EP300
(Q72K)
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
(Q80E)
Single nucleotide variant
(missense variant)
EP300-related condition
GUncertain significance
EP300
(R86*)
Single nucleotide variant
(nonsense)
not provided
GPathogenic
EP300
(R86Q)
Single nucleotide variant
(missense variant)
Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
GBenign
EP300
Duplication
(frameshift variant)
not provided
GPathogenic
EP300
(P91fs)
Deletion
(frameshift variant)
Inborn genetic diseases
GPathogenic
EP300
Single nucleotide variant
(synonymous variant)
Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
GLikely benign
EP300
(P91S)
Single nucleotide variant
(missense variant)
EP300-related condition
+1 more
GConflicting classifications of pathogenicity
EP300
(P91R)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
EP300
(M95T)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
EP300
(G96E)
Single nucleotide variant
(missense variant)
Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
GBenign
EP300
(G101S)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
EP300
(G101D)
Single nucleotide variant
(missense variant)
Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
GUncertain significance
EP300
(V103I)
Single nucleotide variant
(missense variant)
Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
+1 more
GUncertain significance
EP300
(M104T)
Single nucleotide variant
(missense variant)
EP300-related condition
GUncertain significance
EP300
(S106G)
Single nucleotide variant
(missense variant)
EP300-related condition
+2 more
GBenign/Likely benign
EP300
(Q107*)
Single nucleotide variant
(nonsense)
not provided
GPathogenic
EP300
(Q107R)
Single nucleotide variant
(missense variant)
Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
GUncertain significance
EP300
Single nucleotide variant
(synonymous variant)
not specified
+3 more
GBenign/Likely benign
EP300
(S111N)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
EP300
(P113L)
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
GLikely benign
EP300
(G116S)
Single nucleotide variant
(missense variant)
Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
GLikely benign
EP300
(S120N)
Single nucleotide variant
(missense variant)
Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
GUncertain significance
EP300
(M121T)
Single nucleotide variant
(missense variant)
EP300-related condition
GUncertain significance
EP300
(M121I)
Single nucleotide variant
(missense variant)
Rubinstein-Taybi syndrome
GUncertain significance
EP300
(V122D)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
EP300
(M126V)
Single nucleotide variant
(missense variant)
EP300-related condition
+2 more
GBenign/Likely benign
EP300
(Q128L)
Single nucleotide variant
(missense variant)
Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
+1 more
GConflicting classifications of pathogenicity
EP300
(T132S)
Single nucleotide variant
(missense variant)
EP300-related condition
GUncertain significance
EP300
(Q145E)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
EP300
(G146D)
Single nucleotide variant
(missense variant)
Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
GUncertain significance
EP300
(T148A)
Single nucleotide variant
(missense variant)
Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
GLikely benign
EP300
(T148M)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GBenign/Likely benign
EP300
Single nucleotide variant
(synonymous variant)
EP300-related condition
GLikely benign
EP300
Single nucleotide variant
(synonymous variant)
Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
+2 more
GLikely benign
EP300
(S150P)
Single nucleotide variant
(missense variant)
EP300-related condition
+2 more
GConflicting classifications of pathogenicity
EP300
(T151A)
Single nucleotide variant
(missense variant)
not provided
GLikely benign
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