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Links from MedGen

Items: 1 to 100 of 280

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
KMT2A
Deletion
(nonsense)
Wiedemann-Steiner syndrome
GLikely pathogenic
KMT2A
(G2024R +2 more)
Single nucleotide variant
(missense variant)
Wiedemann-Steiner syndrome
GUncertain significance
KMT2A
(P1939fs +2 more)
Deletion
(frameshift variant)
Wiedemann-Steiner syndrome
GPathogenic
KMT2A
(C1588Y +1 more)
Single nucleotide variant
(missense variant)
Wiedemann-Steiner syndrome
GUncertain significance
KMT2A
(Q3304fs +2 more)
Insertion
(frameshift variant)
Wiedemann-Steiner syndrome
GLikely pathogenic
KMT2A
(Q2203* +2 more)
Single nucleotide variant
(nonsense)
Wiedemann-Steiner syndrome
GPathogenic
KMT2A, TTC36-AS1
(K3954fs +2 more)
Deletion
(frameshift variant)
Wiedemann-Steiner syndrome
GUncertain significance
KMT2A
(W1549* +1 more)
Duplication
(nonsense)
Wiedemann-Steiner syndrome
GPathogenic
KMT2A
(S3612* +2 more)
Single nucleotide variant
(nonsense)
Wiedemann-Steiner syndrome
GLikely pathogenic
KMT2A
(K895* +1 more)
Single nucleotide variant
(nonsense)
Wiedemann-Steiner syndrome
GPathogenic
KMT2A
(R2656fs +2 more)
Duplication
(frameshift variant)
Wiedemann-Steiner syndrome
GPathogenic
KMT2A
(G848fs +1 more)
Microsatellite
(frameshift variant)
Wiedemann-Steiner syndrome
GPathogenic
KMT2A
(G1181D +1 more)
Single nucleotide variant
(missense variant)
Wiedemann-Steiner syndrome
GLikely pathogenic
KMT2A
Single nucleotide variant
(splice acceptor variant)
Wiedemann-Steiner syndrome
GPathogenic
KMT2A
(I2995F +2 more)
Single nucleotide variant
(missense variant)
Wiedemann-Steiner syndrome
GLikely pathogenic
KMT2A
(P1454L +1 more)
Single nucleotide variant
(missense variant)
Wiedemann-Steiner syndrome
GUncertain significance
KMT2A
(E1984K +2 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
KMT2A
(R1593fs +1 more)
Deletion
(frameshift variant)
Wiedemann-Steiner syndrome
GPathogenic
KMT2A
(F1956fs +2 more)
Deletion
(frameshift variant)
Wiedemann-Steiner syndrome
GLikely pathogenic
KMT2A
(F1179L +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
KMT2A
(C1155R +1 more)
Single nucleotide variant
(missense variant)
Wiedemann-Steiner syndrome
GLikely pathogenic
KMT2A
(P2515fs +2 more)
Deletion
(frameshift variant)
Wiedemann-Steiner syndrome
GPathogenic
KMT2A
(I2414fs +2 more)
Deletion
(frameshift variant)
Wiedemann-Steiner syndrome
GLikely pathogenic
KMT2A
(K1113* +1 more)
Single nucleotide variant
(nonsense)
Wiedemann-Steiner syndrome
GPathogenic
KMT2A
(K1265fs +1 more)
Deletion
(frameshift variant)
Wiedemann-Steiner syndrome
GPathogenic
KMT2A
Deletion
(nonsense)
Wiedemann-Steiner syndrome
GLikely pathogenic
KMT2A
(L3226fs +2 more)
Deletion
(frameshift variant)
Wiedemann-Steiner syndrome
GLikely pathogenic
KMT2A
Deletion
(splice donor variant)
Wiedemann-Steiner syndrome
GLikely pathogenic
KMT2A
(S3106fs +2 more)
Deletion
(frameshift variant)
Wiedemann-Steiner syndrome
GPathogenic
KMT2A
(T3348fs +2 more)
Deletion
(frameshift variant)
Wiedemann-Steiner syndrome
GPathogenic
KMT2A
(W1549fs +1 more)
Insertion
(frameshift variant)
Wiedemann-Steiner syndrome
GPathogenic
KMT2A, TTC36-AS1
Single nucleotide variant
(non-coding transcript variant +1 more)
Wiedemann-Steiner syndrome
GUncertain significance
KMT2A, TTC36-AS1
(R3705P +2 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
Wiedemann-Steiner syndrome
GLikely pathogenic
KMT2A
(R1083Q +1 more)
Single nucleotide variant
(missense variant)
Wiedemann-Steiner syndrome
+1 more
GUncertain significance
KMT2A
(A11T)
Single nucleotide variant
(missense variant)
Wiedemann-Steiner syndrome
GUncertain significance
KMT2A
(V3611L +2 more)
Single nucleotide variant
(missense variant)
Wiedemann-Steiner syndrome
GUncertain significance
KMT2A
(R426fs)
Duplication
(frameshift variant)
Wiedemann-Steiner syndrome
GPathogenic
KMT2A
(P42L)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
KMT2A
Single nucleotide variant
(splice donor variant)
not provided
+1 more
GLikely pathogenic
KMT2A
(A1024fs)
Duplication
(frameshift variant)
Wiedemann-Steiner syndrome
GLikely pathogenic
KMT2A
(S2255N +2 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
KMT2A
(I355T +1 more)
Single nucleotide variant
(missense variant)
Wiedemann-Steiner syndrome
GUncertain significance
KMT2A
(M1L)
Single nucleotide variant
(missense variant +1 more)
Wiedemann-Steiner syndrome
GUncertain significance
KMT2A
Single nucleotide variant
(splice donor variant)
Wiedemann-Steiner syndrome
GPathogenic
KMT2A
(P3615fs +1 more)
Deletion
(frameshift variant)
Wiedemann-Steiner syndrome
GLikely pathogenic
KMT2A
(W1507* +1 more)
Single nucleotide variant
(nonsense)
Wiedemann-Steiner syndrome
GLikely pathogenic
KMT2A
(E156del +1 more)
Microsatellite
(inframe_indel +1 more)
not provided
+1 more
GUncertain significance
KMT2A
(K870* +1 more)
Single nucleotide variant
(nonsense)
Wiedemann-Steiner syndrome
+1 more
GPathogenic/Likely pathogenic
KMT2A, TTC36-AS1
(R3705fs +1 more)
Deletion
(non-coding transcript variant +1 more)
Wiedemann-Steiner syndrome
GPathogenic
KMT2A
(E811fs)
Insertion
(frameshift variant)
Wiedemann-Steiner syndrome
GPathogenic
KMT2A
(S537T +1 more)
Single nucleotide variant
(missense variant)
Wiedemann-Steiner syndrome
GUncertain significance
KMT2A
(V776L +1 more)
Single nucleotide variant
(missense variant)
Wiedemann-Steiner syndrome
GUncertain significance
KMT2A
(R176C +1 more)
Single nucleotide variant
(missense variant)
Wiedemann-Steiner syndrome
GUncertain significance
KMT2A
(L3301R +2 more)
Single nucleotide variant
(missense variant)
Wiedemann-Steiner syndrome
GUncertain significance
KMT2A
Single nucleotide variant
(intron variant)
Wiedemann-Steiner syndrome
GUncertain significance
KMT2A
(L1636I +2 more)
Single nucleotide variant
(missense variant)
Wiedemann-Steiner syndrome
GUncertain significance
KMT2A, TTC36-AS1
(A3689fs +1 more)
Duplication
(frameshift variant +1 more)
Wiedemann-Steiner syndrome
GPathogenic
KMT2A
(S1883fs +1 more)
Deletion
(frameshift variant)
Wiedemann-Steiner syndrome
GPathogenic
KMT2A
(C1434F +1 more)
Single nucleotide variant
(missense variant)
Wiedemann-Steiner syndrome
GLikely pathogenic
KMT2A
(A1095T +1 more)
Single nucleotide variant
(missense variant)
Wiedemann-Steiner syndrome
GUncertain significance
KMT2A
(A3063fs +1 more)
Deletion
(frameshift variant)
Wiedemann-Steiner syndrome
GPathogenic
KMT2A
(I361T +1 more)
Single nucleotide variant
(missense variant)
Wiedemann-Steiner syndrome
GUncertain significance
KMT2A
(D2582fs +1 more)
Deletion
(frameshift variant)
Wiedemann-Steiner syndrome
GPathogenic
KMT2A
(Y1720* +1 more)
Duplication
(nonsense +1 more)
Wiedemann-Steiner syndrome
GPathogenic
KMT2A
(Y1205* +1 more)
Single nucleotide variant
(nonsense)
Wiedemann-Steiner syndrome
GLikely pathogenic
KMT2A
(S2938R +2 more)
Single nucleotide variant
(missense variant)
Wiedemann-Steiner syndrome
Gnot provided
KMT2A
(Q1587R)
Single nucleotide variant
(missense variant)
Wiedemann-Steiner syndrome
GLikely pathogenic
KMT2A
(M690I)
Single nucleotide variant
(missense variant)
Wiedemann-Steiner syndrome
GUncertain significance
KMT2A
(I2645fs +1 more)
Deletion
(frameshift variant)
Wiedemann-Steiner syndrome
GLikely pathogenic
KMT2A, TTC36-AS1
(R3786H +1 more)
Single nucleotide variant
(missense variant)
Wiedemann-Steiner syndrome
+1 more
GUncertain significance
KMT2A
Single nucleotide variant
(splice acceptor variant)
Wiedemann-Steiner syndrome
GLikely pathogenic
KMT2A
(C2479R +1 more)
Single nucleotide variant
(missense variant)
Wiedemann-Steiner syndrome
+1 more
GUncertain significance
KMT2A
(F2045fs +1 more)
Microsatellite
(frameshift variant)
Wiedemann-Steiner syndrome
GLikely pathogenic
KMT2A
(S2432fs +1 more)
Duplication
(frameshift variant)
Wiedemann-Steiner syndrome
GPathogenic
KMT2A
Deletion
(frameshift variant)
Wiedemann-Steiner syndrome
GPathogenic
KMT2A
(T3353fs +1 more)
Duplication
(frameshift variant)
Wiedemann-Steiner syndrome
GPathogenic
KMT2A
(R1478H)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
KMT2A
(G3514S +1 more)
Single nucleotide variant
(missense variant)
Wiedemann-Steiner syndrome
GUncertain significance
KMT2A
(G76W)
Single nucleotide variant
(missense variant)
Wiedemann-Steiner syndrome
GUncertain significance
KMT2A
(P3430fs +1 more)
Duplication
(frameshift variant)
Wiedemann-Steiner syndrome
Gnot provided
KMT2A
Single nucleotide variant
(splice donor variant)
Wiedemann-Steiner syndrome
GPathogenic
KMT2A
(R302Q)
Single nucleotide variant
(missense variant)
Wiedemann-Steiner syndrome
GUncertain significance
KMT2A, TTC36-AS1
Single nucleotide variant
(non-coding transcript variant +1 more)
Wiedemann-Steiner syndrome
GLikely pathogenic
KMT2A
(K220fs)
Deletion
(frameshift variant)
Wiedemann-Steiner syndrome
GLikely pathogenic
KMT2A
(A2732fs +1 more)
Deletion
(frameshift variant)
Wiedemann-Steiner syndrome
GPathogenic
KMT2A
(Y2635* +1 more)
Single nucleotide variant
(nonsense)
Wiedemann-Steiner syndrome
GPathogenic
KMT2A
(G2327fs +1 more)
Deletion
(frameshift variant)
Wiedemann-Steiner syndrome
GPathogenic
KMT2A
(C1155fs)
Deletion
(frameshift variant)
Wiedemann-Steiner syndrome
GPathogenic
KMT2A
(N1183D)
Single nucleotide variant
(missense variant)
Wiedemann-Steiner syndrome
GLikely pathogenic
KMT2A
(V715I)
Single nucleotide variant
(missense variant)
Wiedemann-Steiner syndrome
GUncertain significance
KMT2A
Deletion
(frameshift variant)
Wiedemann-Steiner syndrome
GLikely pathogenic
KMT2A
(S504R)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
KMT2A
(R2208Q +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
KMT2A
(G977S)
Single nucleotide variant
(missense variant)
Wiedemann-Steiner syndrome
GUncertain significance
KMT2A
(S3148fs +1 more)
Duplication
(frameshift variant)
Wiedemann-Steiner syndrome
GPathogenic
KMT2A
(Q1391*)
Single nucleotide variant
(nonsense)
Wiedemann-Steiner syndrome
GPathogenic/Likely pathogenic
KMT2A
(A2661fs +1 more)
Deletion
(frameshift variant)
Wiedemann-Steiner syndrome
GPathogenic
KMT2A
(K987fs)
Insertion
(frameshift variant)
Wiedemann-Steiner syndrome
Gnot provided
KMT2A
(R613*)
Single nucleotide variant
(nonsense)
Wiedemann-Steiner syndrome
GPathogenic
KMT2A
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GLikely benign
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