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Links from MedGen

Items: 88

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
KMT2E
(Q566H)
Single nucleotide variant
(missense variant)
O'Donnell-Luria-Rodan syndrome
GUncertain significance
KMT2E
(P728fs)
Insertion
(frameshift variant)
O'Donnell-Luria-Rodan syndrome
GPathogenic
KMT2E
Deletion
(splice acceptor variant)
O'Donnell-Luria-Rodan syndrome
GUncertain significance
KMT2E
(N852fs)
Deletion
(frameshift variant)
O'Donnell-Luria-Rodan syndrome
GPathogenic
KMT2E
(K234fs)
Microsatellite
(frameshift variant)
O'Donnell-Luria-Rodan syndrome
GPathogenic
KMT2E
(K571fs)
Duplication
(frameshift variant)
O'Donnell-Luria-Rodan syndrome
GPathogenic
KMT2E
(K1314N +1 more)
Single nucleotide variant
(missense variant)
O'Donnell-Luria-Rodan syndrome
GLikely pathogenic
KMT2E
(P1773L +1 more)
Single nucleotide variant
(missense variant)
O'Donnell-Luria-Rodan syndrome
GUncertain significance
KMT2E
(S81P)
Single nucleotide variant
(missense variant)
O'Donnell-Luria-Rodan syndrome
GUncertain significance
KMT2E
(Y358fs)
Deletion
(frameshift variant)
O'Donnell-Luria-Rodan syndrome
GPathogenic
KMT2E
(P1694fs +1 more)
Duplication
(frameshift variant)
O'Donnell-Luria-Rodan syndrome
GUncertain significance
KMT2E
(Q1787fs +1 more)
Duplication
(frameshift variant)
O'Donnell-Luria-Rodan syndrome
GUncertain significance
KMT2E
(T1805del +1 more)
Deletion
(inframe_deletion)
O'Donnell-Luria-Rodan syndrome
GUncertain significance
KMT2E
(I5F)
Single nucleotide variant
(missense variant)
O'Donnell-Luria-Rodan syndrome
GUncertain significance
KMT2E
Single nucleotide variant
(synonymous variant)
O'Donnell-Luria-Rodan syndrome
GLikely pathogenic
KMT2E
(H1740fs)
Deletion
(frameshift variant)
O'Donnell-Luria-Rodan syndrome
GUncertain significance
KMT2E
(R405*)
Single nucleotide variant
(nonsense)
O'Donnell-Luria-Rodan syndrome
GLikely pathogenic
KMT2E
(N1523K +1 more)
Single nucleotide variant
(missense variant)
O'Donnell-Luria-Rodan syndrome
GUncertain significance
KMT2E
(G492fs)
Microsatellite
(frameshift variant)
O'Donnell-Luria-Rodan syndrome
GLikely pathogenic
KMT2E
(Q1537L +1 more)
Single nucleotide variant
(missense variant)
O'Donnell-Luria-Rodan syndrome
GUncertain significance
KMT2E
(K329T)
Single nucleotide variant
(missense variant)
O'Donnell-Luria-Rodan syndrome
GUncertain significance
KMT2E
Deletion
(inframe_indel +1 more)
O'Donnell-Luria-Rodan syndrome
GUncertain significance
KMT2E
(P331S)
Single nucleotide variant
(missense variant)
O'Donnell-Luria-Rodan syndrome
GUncertain significance
KMT2E
(P1709S +1 more)
Single nucleotide variant
(missense variant)
O'Donnell-Luria-Rodan syndrome
GUncertain significance
KMT2E
(I5N)
Single nucleotide variant
(missense variant)
O'Donnell-Luria-Rodan syndrome
GUncertain significance
KMT2E
(L774S)
Single nucleotide variant
(missense variant)
O'Donnell-Luria-Rodan syndrome
GUncertain significance
KMT2E
(I106V)
Single nucleotide variant
(missense variant)
O'Donnell-Luria-Rodan syndrome
GUncertain significance
KMT2E
(A768T)
Single nucleotide variant
(missense variant)
O'Donnell-Luria-Rodan syndrome
GUncertain significance
KMT2E
(L1159P)
Single nucleotide variant
(missense variant)
O'Donnell-Luria-Rodan syndrome
GLikely pathogenic
KMT2E
(R1262*)
Single nucleotide variant
(nonsense)
O'Donnell-Luria-Rodan syndrome
GLikely pathogenic
KMT2E
(T1472A +1 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
KMT2E
(P1638L +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
KMT2E
(T975I)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
KMT2E
(M316L)
Single nucleotide variant
(missense variant)
O'Donnell-Luria-Rodan syndrome
+1 more
GConflicting classifications of pathogenicity
KMT2E
(Q1454del +1 more)
Deletion
(inframe_indel +1 more)
O'Donnell-Luria-Rodan syndrome
GUncertain significance
KMT2E
(K463fs)
Deletion
(frameshift variant)
O'Donnell-Luria-Rodan syndrome
GLikely pathogenic
KMT2E
(K494fs)
Duplication
(frameshift variant)
O'Donnell-Luria-Rodan syndrome
GPathogenic
KMT2E
(G1543E +1 more)
Single nucleotide variant
(missense variant)
O'Donnell-Luria-Rodan syndrome
GLikely benign
KMT2E
(R283*)
Single nucleotide variant
(nonsense)
not provided
+1 more
GPathogenic
KMT2E
(H1373P +1 more)
Single nucleotide variant
(missense variant)
O'Donnell-Luria-Rodan syndrome
GUncertain significance
KMT2E
(F1582fs)
Microsatellite
(frameshift variant)
O'Donnell-Luria-Rodan syndrome
GLikely pathogenic
KMT2E
(K961fs)
Deletion
(frameshift variant)
O'Donnell-Luria-Rodan syndrome
+1 more
GLikely pathogenic
KMT2E
(V1157I)
Single nucleotide variant
(missense variant)
O'Donnell-Luria-Rodan syndrome
GUncertain significance
KMT2E
(Y450C)
Single nucleotide variant
(missense variant)
O'Donnell-Luria-Rodan syndrome
GUncertain significance
KMT2E
(S1285fs)
Duplication
(frameshift variant)
O'Donnell-Luria-Rodan syndrome
GPathogenic
KMT2E
(Y931*)
Single nucleotide variant
(nonsense)
O'Donnell-Luria-Rodan syndrome
GLikely pathogenic
KMT2E
Single nucleotide variant
(intron variant)
O'Donnell-Luria-Rodan syndrome
GLikely pathogenic
KMT2E
(R598G)
Single nucleotide variant
(missense variant)
O'Donnell-Luria-Rodan syndrome
GLikely pathogenic
KMT2E
(S1243R)
Single nucleotide variant
(missense variant)
O'Donnell-Luria-Rodan syndrome
GUncertain significance
KMT2E
(S1303*)
Single nucleotide variant
(nonsense)
O'Donnell-Luria-Rodan syndrome
GPathogenic
KMT2E
Single nucleotide variant
(intron variant)
O'Donnell-Luria-Rodan syndrome
+1 more
GConflicting classifications of pathogenicity
KMT2E
Duplication
(intron variant)
not provided
+1 more
GConflicting classifications of pathogenicity
KMT2E
(K1164*)
Duplication
(nonsense)
not provided
+1 more
GPathogenic/Likely pathogenic
KMT2E
(N224H)
Single nucleotide variant
(missense variant)
O'Donnell-Luria-Rodan syndrome
GUncertain significance
KMT2E
(R844G)
Single nucleotide variant
(missense variant)
O'Donnell-Luria-Rodan syndrome
GUncertain significance
KMT2E
(T1593I)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
KMT2E, SRPK2
Copy number loss
O'Donnell-Luria-Rodan syndrome
GPathogenic
ATXN7L1, KMT2E
+3 more
Copy number loss
O'Donnell-Luria-Rodan syndrome
GPathogenic
KMT2E
Single nucleotide variant
(splice acceptor variant)
O'Donnell-Luria-Rodan syndrome
GLikely pathogenic
KMT2E
Single nucleotide variant
(splice donor variant)
O'Donnell-Luria-Rodan syndrome
GLikely pathogenic
KMT2E
Single nucleotide variant
(synonymous variant)
O'Donnell-Luria-Rodan syndrome
GLikely pathogenic
KMT2E
Deletion
(splice donor variant)
O'Donnell-Luria-Rodan syndrome
GLikely pathogenic
KMT2E
(M906fs)
Duplication
(frameshift variant)
O'Donnell-Luria-Rodan syndrome
GPathogenic
KMT2E
(K722fs)
Deletion
(frameshift variant)
O'Donnell-Luria-Rodan syndrome
GPathogenic
KMT2E
(I549fs)
Deletion
(frameshift variant)
O'Donnell-Luria-Rodan syndrome
GPathogenic
KMT2E
(G22fs)
Deletion
(frameshift variant)
O'Donnell-Luria-Rodan syndrome
GLikely pathogenic
KMT2E
(Q1427*)
Single nucleotide variant
(nonsense)
O'Donnell-Luria-Rodan syndrome
GLikely pathogenic
KMT2E
(Q1012*)
Single nucleotide variant
(nonsense)
O'Donnell-Luria-Rodan syndrome
GPathogenic
KMT2E
(S102fs)
Deletion
(frameshift variant)
O'Donnell-Luria-Rodan syndrome
+1 more
GPathogenic
KMT2E
(L1610fs)
Duplication
(frameshift variant)
Inborn genetic diseases
+2 more
GPathogenic/Likely pathogenic
KMT2E
(S1412L)
Single nucleotide variant
(missense variant)
O'Donnell-Luria-Rodan syndrome
+1 more
GUncertain significance
KMT2E
(T1253A)
Single nucleotide variant
(missense variant)
O'Donnell-Luria-Rodan syndrome
GUncertain significance
KMT2E
Single nucleotide variant
(splice acceptor variant)
O'Donnell-Luria-Rodan syndrome
GLikely pathogenic
KMT2E
(D458V)
Single nucleotide variant
(missense variant)
O'Donnell-Luria-Rodan syndrome
GUncertain significance
KMT2E
(E703*)
Single nucleotide variant
(nonsense)
O'Donnell-Luria-Rodan syndrome
+1 more
GPathogenic
KMT2E
(T641S)
Single nucleotide variant
(missense variant)
O'Donnell-Luria-Rodan syndrome
GUncertain significance
KMT2E
(E369fs)
Duplication
(frameshift variant)
O'Donnell-Luria-Rodan syndrome
GLikely pathogenic
KMT2E
(P1686fs)
Duplication
(frameshift variant)
O'Donnell-Luria-Rodan syndrome
+1 more
GPathogenic/Likely pathogenic
KMT2E
(P1307fs)
Duplication
(frameshift variant)
O'Donnell-Luria-Rodan syndrome
GLikely pathogenic
KMT2E
Microsatellite
(nonsense)
O'Donnell-Luria-Rodan syndrome
+1 more
GPathogenic/Likely pathogenic
KMT2E
(D907V)
Single nucleotide variant
(missense variant)
See cases
GLikely pathogenic
KMT2E
(V140I)
Single nucleotide variant
(missense variant)
O'Donnell-Luria-Rodan syndrome
+2 more
GConflicting classifications of pathogenicity
KMT2E
(R151*)
Duplication
(nonsense)
O'Donnell-Luria-Rodan syndrome
GPathogenic
KMT2E
(S1185*)
Single nucleotide variant
(nonsense)
O'Donnell-Luria-Rodan syndrome
+1 more
GLikely pathogenic
KMT2E
(R818*)
Single nucleotide variant
(nonsense)
See cases
GLikely pathogenic
KMT2E
(K593fs)
Deletion
(frameshift variant)
O'Donnell-Luria-Rodan syndrome
+2 more
GPathogenic/Likely pathogenic
KMT2E
(E685*)
Microsatellite
(nonsense)
O'Donnell-Luria-Rodan syndrome
GPathogenic
KMT2E
Duplication
(splice acceptor variant)
not provided
+1 more
GConflicting classifications of pathogenicity
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