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Items: 83

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
MECP2
Deletion
(stop lost +1 more)
not provided
GLikely pathogenic
MECP2
Single nucleotide variant
(3 prime UTR variant)
Rett syndrome
GBenign
MECP2
Single nucleotide variant
(3 prime UTR variant)
not specified
+4 more
GBenign/Likely benign
MECP2
(V481M +3 more)
Single nucleotide variant
(missense variant)
Rett syndrome
GLikely benign
MECP2
Single nucleotide variant
(synonymous variant)
MECP2-related condition
+5 more
GBenign/Likely benign
MECP2
Single nucleotide variant
(synonymous variant)
Rett syndrome
GLikely benign
MECP2
Single nucleotide variant
(synonymous variant)
Rett syndrome
GLikely benign
MECP2
(R458H +3 more)
Single nucleotide variant
(missense variant)
MECP2-related condition
+7 more
GBenign/Likely benign
MECP2
Single nucleotide variant
(synonymous variant)
History of neurodevelopmental disorder
+4 more
GBenign/Likely benign
MECP2
(A444T +3 more)
Single nucleotide variant
(missense variant)
not provided
+3 more
GBenign/Likely benign
MECP2
(A439T +3 more)
Single nucleotide variant
(missense variant)
MECP2-related condition
+5 more
GBenign/Likely benign
MECP2
(A439S +3 more)
Single nucleotide variant
(missense variant)
Rett syndrome
GBenign
MECP2
(V412I +3 more)
Single nucleotide variant
(missense variant)
not provided
+4 more
GBenign/Likely benign
MECP2
Single nucleotide variant
(synonymous variant)
History of neurodevelopmental disorder
+4 more
GBenign
MECP2
Deletion
(frameshift variant)
Rett syndrome
GPathogenic
MECP2
(L398fs +2 more)
Deletion
(frameshift variant)
not provided
+3 more
GPathogenic/Likely pathogenic
MECP2
Single nucleotide variant
(synonymous variant)
History of neurodevelopmental disorder
+4 more
GBenign/Likely benign
MECP2
(E397K +3 more)
Single nucleotide variant
(missense variant)
Rett syndrome
GBenign
MECP2
(P297fs +3 more)
Duplication
(frameshift variant)
not provided
GPathogenic
MECP2
Single nucleotide variant
(synonymous variant)
Rett syndrome
GUncertain significance
MECP2
(P388S +3 more)
Single nucleotide variant
(missense variant)
Rett syndrome
GBenign
MECP2
Single nucleotide variant
(synonymous variant)
Inborn genetic diseases
+4 more
GBenign
MECP2
(V380M +3 more)
Single nucleotide variant
(missense variant)
Rett syndrome
GBenign
MECP2
Single nucleotide variant
(synonymous variant)
MECP2-related condition
+5 more
GBenign/Likely benign
MECP2
(A378V +3 more)
Single nucleotide variant
(missense variant)
Rett syndrome
GBenign
MECP2
(P388S +2 more)
Single nucleotide variant
(missense variant)
Rett syndrome
GBenign
MECP2
Single nucleotide variant
(synonymous variant)
Rett syndrome
GLikely benign
MECP2
Single nucleotide variant
(synonymous variant)
MECP2-related condition
+5 more
GBenign/Likely benign
MECP2
(R354C +3 more)
Single nucleotide variant
(missense variant)
Rett syndrome
GBenign
MECP2
Single nucleotide variant
(synonymous variant)
not specified
+4 more
GBenign
MECP2
Single nucleotide variant
(synonymous variant)
MECP2-related condition
+5 more
GBenign/Likely benign
MECP2
(E318A +3 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
MECP2
Single nucleotide variant
(synonymous variant)
History of neurodevelopmental disorder
+7 more
GBenign/Likely benign
MECP2
Single nucleotide variant
(synonymous variant)
Rett syndrome
GLikely benign
MECP2
(R309W +3 more)
Single nucleotide variant
(missense variant)
Rett syndrome
GPathogenic
MECP2
(R306C +3 more)
Single nucleotide variant
(missense variant)
Rett syndrome
GPathogenic
MECP2
Single nucleotide variant
(synonymous variant)
History of neurodevelopmental disorder
+7 more
GBenign/Likely benign
MECP2
(R294* +3 more)
Single nucleotide variant
(nonsense)
Rett syndrome
GPathogenic
MECP2
Single nucleotide variant
(synonymous variant)
MECP2-related condition
+3 more
GBenign/Likely benign
MECP2
Single nucleotide variant
(synonymous variant)
Inborn genetic diseases
+4 more
GBenign
MECP2
(P272L +3 more)
Single nucleotide variant
(missense variant)
not specified
+3 more
GBenign/Likely benign
MECP2
(R270* +3 more)
Single nucleotide variant
(nonsense)
not provided
+8 more
GPathogenic
MECP2
(G176fs +3 more)
Deletion
(frameshift variant)
Rett syndrome
GPathogenic
MECP2
Single nucleotide variant
(synonymous variant)
not specified
+3 more
GBenign/Likely benign
MECP2
(R255* +3 more)
Single nucleotide variant
(nonsense)
not provided
+9 more
GPathogenic/Likely pathogenic
MECP2
(G252fs +3 more)
Deletion
(frameshift variant)
MECP2-Related Disorders
+3 more
GPathogenic
MECP2
(Q244* +3 more)
Single nucleotide variant
(nonsense)
not provided
+2 more
GPathogenic
MECP2
(A234G +3 more)
Single nucleotide variant
(missense variant)
Rett syndrome
GBenign
MECP2
(G232A +3 more)
Single nucleotide variant
(missense variant)
MECP2-related condition
+4 more
GBenign/Likely benign
MECP2
(G231R +3 more)
Single nucleotide variant
(missense variant)
Rett syndrome
GLikely benign
MECP2
(T228S +3 more)
Single nucleotide variant
(missense variant)
MECP2-related condition
+5 more
GBenign
MECP2
Single nucleotide variant
(synonymous variant +1 more)
not specified
+4 more
GBenign/Likely benign
MECP2
(V207A +2 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GConflicting classifications of pathogenicity
MECP2
(S204* +2 more)
Single nucleotide variant
(nonsense +1 more)
Inborn genetic diseases
+2 more
GPathogenic
MECP2
(T203M +2 more)
Single nucleotide variant
(missense variant +1 more)
Rett syndrome
GBenign
MECP2
(A201V +2 more)
Single nucleotide variant
(missense variant +1 more)
Rett syndrome
GBenign
MECP2
(T197M +2 more)
Single nucleotide variant
(missense variant +1 more)
MECP2-related condition
+6 more
GBenign/Likely benign
MECP2
(T196S +2 more)
Single nucleotide variant
(missense variant +1 more)
MECP2-related condition
+8 more
GBenign/Likely benign
MECP2
Single nucleotide variant
(synonymous variant +1 more)
MECP2-related condition
+5 more
GBenign/Likely benign
MECP2
Single nucleotide variant
(synonymous variant +1 more)
Rett syndrome
GLikely benign
MECP2
(P176H +2 more)
Single nucleotide variant
(missense variant +1 more)
Rett syndrome
GLikely benign
MECP2
(R168* +2 more)
Single nucleotide variant
(nonsense +1 more)
MECP2-related condition
+8 more
GPathogenic
MECP2
(G163W +2 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GLikely pathogenic
MECP2
(T158M +2 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+9 more
GPathogenic/Likely pathogenic
MECP2
(D156E +2 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+2 more
GPathogenic
MECP2
Single nucleotide variant
(synonymous variant +1 more)
Rett syndrome
GLikely benign
MECP2
Single nucleotide variant
(synonymous variant +1 more)
Inborn genetic diseases
+4 more
GBenign/Likely benign
MECP2
(Y141* +2 more)
Single nucleotide variant
(nonsense +1 more)
Inborn genetic diseases
+3 more
GPathogenic
MECP2
(A140V +2 more)
Single nucleotide variant
(missense variant +1 more)
Neurodevelopmental disorder
+15 more
GPathogenic/Likely pathogenic
MECP2
(R133C +2 more)
Single nucleotide variant
(missense variant +1 more)
Rett syndrome
GPathogenic
MECP2
Single nucleotide variant
(synonymous variant +1 more)
Severe neonatal-onset encephalopathy with microcephaly
+1 more
GLikely benign
MECP2
Deletion
(intron variant)
not provided
GUncertain significance
MECP2
Single nucleotide variant
(intron variant)
not provided
GUncertain significance
MECP2
Deletion
(intron variant)
not provided
+4 more
GBenign/Likely benign
MECP2
Single nucleotide variant
(synonymous variant +1 more)
Rett syndrome
GBenign
MECP2
(R106W +2 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
+7 more
GPathogenic/Likely pathogenic
MECP2
(R84Q +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
MECP2
Single nucleotide variant
(synonymous variant +1 more)
MECP2-related condition
+7 more
GBenign/Likely benign
MECP2
Single nucleotide variant
(synonymous variant +1 more)
not provided
GUncertain significance
MECP2
Single nucleotide variant
(synonymous variant +1 more)
Rett syndrome
GBenign
MECP2
Microsatellite
(5 prime UTR variant +1 more)
Rett syndrome
GBenign
LOC130068854, MECP2
Microsatellite
(5 prime UTR variant +1 more)
Rett syndrome
GBenign
LOC130068854, MECP2
Microsatellite
(inframe_deletion +1 more)
Rett syndrome
GBenign
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