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Links from MedGen

Items: 78

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
EBF3
(A515V +3 more)
Single nucleotide variant
(missense variant +1 more)
Hypotonia, ataxia, and delayed development syndrome
GUncertain significance
EBF3
(R152P)
Single nucleotide variant
(missense variant)
Hypotonia, ataxia, and delayed development syndrome
GLikely pathogenic
EBF3
(Q124K)
Single nucleotide variant
(missense variant)
Hypotonia, ataxia, and delayed development syndrome
GUncertain significance
CLRN3, DOCK1
+201 more
Copy number loss
Hypotonia, ataxia, and delayed development syndrome
+1 more
GPathogenic
EBF3
(D222fs)
Deletion
(frameshift variant)
Hypotonia, ataxia, and delayed development syndrome
GLikely pathogenic
EBF3
(V314I +1 more)
Single nucleotide variant
(missense variant)
Hypotonia, ataxia, and delayed development syndrome
GUncertain significance
EBF3
(T476fs +1 more)
Microsatellite
(frameshift variant +1 more)
Hypotonia, ataxia, and delayed development syndrome
GLikely pathogenic
EBF3
Deletion
Hypotonia, ataxia, and delayed development syndrome
GPathogenic
EBF3
(P317L +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GLikely benign
EBF3
(H395fs +1 more)
Microsatellite
(frameshift variant)
Hypotonia, ataxia, and delayed development syndrome
GLikely pathogenic
EBF3
(S440* +1 more)
Single nucleotide variant
(nonsense)
Hypotonia, ataxia, and delayed development syndrome
GPathogenic
EBF3
(Q470* +1 more)
Single nucleotide variant
(nonsense +1 more)
Hypotonia, ataxia, and delayed development syndrome
GPathogenic
EBF3
(R246H)
Single nucleotide variant
(missense variant)
Hypotonia, ataxia, and delayed development syndrome
GUncertain significance
EBF3
(N101D)
Single nucleotide variant
(missense variant)
Hypotonia, ataxia, and delayed development syndrome
GUncertain significance
EBF3
(M516V +3 more)
Single nucleotide variant
(missense variant +1 more)
Hypotonia, ataxia, and delayed development syndrome
GUncertain significance
EBF3
Single nucleotide variant
(intron variant)
Hypotonia, ataxia, and delayed development syndrome
GUncertain significance
EBF3
Single nucleotide variant
(synonymous variant)
Hypotonia, ataxia, and delayed development syndrome
GUncertain significance
EBF3
(N204K)
Single nucleotide variant
(missense variant)
Hypotonia, ataxia, and delayed development syndrome
GUncertain significance
EBF3
(S22R)
Single nucleotide variant
(missense variant)
Hypotonia, ataxia, and delayed development syndrome
GUncertain significance
EBF3
Single nucleotide variant
(intron variant)
Hypotonia, ataxia, and delayed development syndrome
GLikely pathogenic
EBF3
(P307L +1 more)
Single nucleotide variant
(missense variant)
Hypotonia, ataxia, and delayed development syndrome
GUncertain significance
EBF3
(P308fs +1 more)
Duplication
(frameshift variant)
Hypotonia, ataxia, and delayed development syndrome
GLikely pathogenic
EBF3
(R185T)
Single nucleotide variant
(missense variant)
Hypotonia, ataxia, and delayed development syndrome
GUncertain significance
EBF3
(V234A)
Single nucleotide variant
(missense variant)
Hypotonia, ataxia, and delayed development syndrome
GLikely pathogenic
EBF3
(R152C)
Single nucleotide variant
(missense variant)
Hypotonia, ataxia, and delayed development syndrome
GLikely pathogenic
EBF3
(F211L)
Single nucleotide variant
(missense variant)
Hypotonia, ataxia, and delayed development syndrome
GLikely pathogenic
EBF3
(R163G)
Single nucleotide variant
(missense variant)
Hypotonia, ataxia, and delayed development syndrome
GLikely pathogenic
EBF3
(N237del)
Microsatellite
(inframe_deletion)
Hypotonia, ataxia, and delayed development syndrome
GPathogenic
EBF3
Single nucleotide variant
(intron variant)
Hypotonia, ataxia, and delayed development syndrome
GUncertain significance
EBF3
(R63Q)
Single nucleotide variant
(missense variant)
Hypotonia, ataxia, and delayed development syndrome
GLikely pathogenic
EBF3
(L192del)
Deletion
(inframe_deletion)
Hypotonia, ataxia, and delayed development syndrome
GLikely pathogenic
EBF3
(V439M +1 more)
Single nucleotide variant
(missense variant)
Hypotonia, ataxia, and delayed development syndrome
GUncertain significance
EBF3
(S169G)
Single nucleotide variant
(missense variant)
Hypotonia, ataxia, and delayed development syndrome
GLikely pathogenic
EBF3
(D125N)
Single nucleotide variant
(missense variant)
not specified
+1 more
GUncertain significance
EBF3
(I183fs)
Deletion
(frameshift variant)
Hypotonia, ataxia, and delayed development syndrome
GLikely pathogenic
EBF3
(P81fs)
Duplication
(frameshift variant)
Hypotonia, ataxia, and delayed development syndrome
GPathogenic
EBF3
Single nucleotide variant
(intron variant)
Hypotonia, ataxia, and delayed development syndrome
GUncertain significance
EBF3
(H109P)
Single nucleotide variant
(missense variant)
Hypotonia, ataxia, and delayed development syndrome
GLikely pathogenic
EBF3
(C164S)
Single nucleotide variant
(missense variant)
Hypotonia, ataxia, and delayed development syndrome
GLikely pathogenic
EBF3
(R63W)
Single nucleotide variant
(missense variant)
Hypotonia, ataxia, and delayed development syndrome
GLikely pathogenic
EBF3
(N197D)
Single nucleotide variant
(missense variant)
Hypotonia, ataxia, and delayed development syndrome
GLikely pathogenic
EBF3
(T442A +1 more)
Single nucleotide variant
(missense variant)
Hypotonia, ataxia, and delayed development syndrome
GUncertain significance
EBF3
(R461* +1 more)
Single nucleotide variant
(nonsense +1 more)
not provided
+2 more
GConflicting classifications of pathogenicity
EBF3
(M208fs)
Duplication
(frameshift variant)
Hypotonia, ataxia, and delayed development syndrome
GPathogenic
EBF3
(R28S)
Single nucleotide variant
(missense variant)
Hypotonia, ataxia, and delayed development syndrome
GUncertain significance
EBF3
Deletion
(splice donor variant)
Hypotonia, ataxia, and delayed development syndrome
GPathogenic
EBF3
(L74F)
Single nucleotide variant
(missense variant)
Hypotonia, ataxia, and delayed development syndrome
GUncertain significance
EBF3
Single nucleotide variant
(intron variant)
Hypotonia, ataxia, and delayed development syndrome
GUncertain significance
EBF3
(A384V +1 more)
Single nucleotide variant
(missense variant)
Hypotonia, ataxia, and delayed development syndrome
GLikely pathogenic
EBF3
Single nucleotide variant
(splice acceptor variant)
Hypotonia, ataxia, and delayed development syndrome
GLikely pathogenic
EBF3
(V219A)
Single nucleotide variant
(missense variant)
Hypotonia, ataxia, and delayed development syndrome
GLikely pathogenic
EBF3
(C161S)
Single nucleotide variant
(missense variant)
Hypotonia, ataxia, and delayed development syndrome
GPathogenic
EBF3
(G143D)
Single nucleotide variant
(missense variant)
Hypotonia, ataxia, and delayed development syndrome
GLikely pathogenic
EBF3
Single nucleotide variant
(splice donor variant)
Hypotonia, ataxia, and delayed development syndrome
GPathogenic
EBF3
(A270fs +1 more)
Duplication
(frameshift variant)
Hypotonia, ataxia, and delayed development syndrome
+1 more
GPathogenic
EBF3
Single nucleotide variant
(splice donor variant)
Hypotonia, ataxia, and delayed development syndrome
GPathogenic
EBF3
(E55*)
Single nucleotide variant
(nonsense)
Hypotonia, ataxia, and delayed development syndrome
GPathogenic
EBF3
(G269fs +1 more)
Deletion
(frameshift variant)
Hypotonia, ataxia, and delayed development syndrome
Gnot provided
EBF3
(R395* +1 more)
Single nucleotide variant
(nonsense)
EBF3-related disorder
+1 more
GPathogenic/Likely pathogenic
EBF3
(L154P)
Indel
(missense variant)
Hypotonia, ataxia, and delayed development syndrome
GLikely pathogenic
EBF3
(C198Y)
Single nucleotide variant
(missense variant)
Hypotonia, ataxia, and delayed development syndrome
GPathogenic
EBF3
(D277N +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
EBF3
(R185K)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
EBF3
(R209Q)
Single nucleotide variant
(missense variant)
not provided
+1 more
GPathogenic/Likely pathogenic
EBF3
Single nucleotide variant
(splice acceptor variant)
Hypotonia, ataxia, and delayed development syndrome
+1 more
GPathogenic
EBF3
(R303* +1 more)
Single nucleotide variant
(nonsense)
Hypotonia, ataxia, and delayed development syndrome
+2 more
GPathogenic
EBF3
(R206*)
Single nucleotide variant
(nonsense)
Hypotonia, ataxia, and delayed development syndrome
+1 more
GPathogenic
EBF3
(E94fs)
Deletion
(frameshift variant)
Vesicoureteral reflux
+7 more
GPathogenic
EBF3
(K193N)
Single nucleotide variant
(missense variant)
not provided
GPathogenic
EBF3
(R163P)
Single nucleotide variant
(missense variant)
Hypotonia, ataxia, and delayed development syndrome
GPathogenic
EBF3
(Y141C)
Single nucleotide variant
(missense variant)
Hypotonia, ataxia, and delayed development syndrome
+2 more
GPathogenic/Likely pathogenic
EBF3
(N66D)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GLikely pathogenic
EBF3
(R209W)
Single nucleotide variant
(missense variant)
not provided
+2 more
GPathogenic/Likely pathogenic
EBF3
(G171D)
Single nucleotide variant
(missense variant)
Renal tubular dysgenesis
+4 more
GPathogenic
EBF3
(R163W)
Single nucleotide variant
(missense variant)
Hypotonia, ataxia, and delayed development syndrome
GConflicting classifications of pathogenicity
EBF3
(R163Q)
Single nucleotide variant
(missense variant)
Intellectual disability
+8 more
GPathogenic
EBF3
(R163L)
Single nucleotide variant
(missense variant)
not provided
+5 more
GPathogenic
EBF3
(P177L)
Single nucleotide variant
(missense variant)
Hypotonia, ataxia, and delayed development syndrome
+1 more
GPathogenic
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