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Links from MedGen

Items: 1 to 100 of 837

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
MECP2
(S111* +2 more)
Single nucleotide variant
(nonsense +1 more)
Rett syndrome
GPathogenic
MECP2
(K212T +3 more)
Single nucleotide variant
(missense variant)
Rett syndrome
GLikely pathogenic
MECP2
(N126I +2 more)
Single nucleotide variant
(missense variant +1 more)
Rett syndrome
GLikely pathogenic
MECP2
(P158R +3 more)
Single nucleotide variant
(missense variant)
Rett syndrome
GUncertain significance
MECP2
(L160fs +3 more)
Deletion
(frameshift variant)
Rett syndrome
GPathogenic
MECP2
(P165fs +3 more)
Indel
(frameshift variant)
Rett syndrome
GPathogenic
MECP2
Single nucleotide variant
(intron variant)
Rett syndrome
GBenign
MECP2
Single nucleotide variant
(3 prime UTR variant)
Rett syndrome
GBenign
MECP2
(Q134* +3 more)
Single nucleotide variant
(nonsense)
Rett syndrome
GLikely pathogenic
MECP2
(S188fs +3 more)
Deletion
(frameshift variant)
Rett syndrome
GPathogenic
MECP2
Single nucleotide variant
(synonymous variant)
Rett syndrome
GUncertain significance
MECP2
(E404K +3 more)
Single nucleotide variant
(missense variant)
Rett syndrome
GUncertain significance
MECP2
(E473Q +3 more)
Single nucleotide variant
(missense variant)
Rett syndrome
GUncertain significance
MECP2
(S242P +3 more)
Single nucleotide variant
(missense variant)
Rett syndrome
GUncertain significance
MECP2
(P165fs +3 more)
Deletion
(frameshift variant)
Rett syndrome
GLikely pathogenic
IRAK1, MECP2
Copy number loss
Rett syndrome
GPathogenic
MECP2
Deletion
Rett syndrome
GPathogenic
MECP2
(R160fs +3 more)
Indel
(frameshift variant)
Rett syndrome
GLikely pathogenic
MECP2
(H148fs +3 more)
Deletion
(frameshift variant)
Rett syndrome
GPathogenic
MECP2
Deletion
(inframe_deletion)
Rett syndrome
GUncertain significance
MECP2
Copy number loss
Rett syndrome
GPathogenic
MECP2
Deletion
Rett syndrome
GPathogenic
MECP2
(P168fs +3 more)
Deletion
(frameshift variant)
Rett syndrome
GLikely pathogenic
MECP2
Insertion
Rett syndrome
GLikely pathogenic
MECP2
(L108P +2 more)
Single nucleotide variant
(missense variant +1 more)
Rett syndrome
GLikely pathogenic
MECP2
(A117G +2 more)
Single nucleotide variant
(missense variant +1 more)
Rett syndrome
GLikely pathogenic
MECP2
Indel
(nonsense)
Rett syndrome
GLikely pathogenic
MECP2
(G233* +3 more)
Single nucleotide variant
(nonsense)
Rett syndrome
GLikely pathogenic
MECP2
(T206fs +3 more)
Indel
(frameshift variant)
Rett syndrome
GPathogenic
MAP2
(K1269N +10 more)
Single nucleotide variant
(missense variant +1 more)
Rett syndrome
GUncertain significance
MECP2
(P167L +3 more)
Single nucleotide variant
(missense variant)
Rett syndrome
GUncertain significance
MECP2
(P164fs +3 more)
Indel
(frameshift variant)
Rett syndrome
GPathogenic
MECP2
(S173fs +3 more)
Deletion
(frameshift variant)
Rett syndrome
GPathogenic
MECP2
(S78fs +1 more)
Duplication
(frameshift variant +1 more)
Rett syndrome
GPathogenic
MECP2
(H147fs +3 more)
Deletion
(frameshift variant)
Rett syndrome
GPathogenic
MECP2
Copy number loss
Rett syndrome
GPathogenic
MECP2
(E165fs +3 more)
Deletion
(frameshift variant)
Rett syndrome
GPathogenic
MECP2
(M1fs +3 more)
Deletion
(frameshift variant +3 more)
Autism, susceptibility to, X-linked 3
+4 more
GPathogenic
MECP2
(A73fs +1 more)
Deletion
(frameshift variant +1 more)
Rett syndrome
GLikely pathogenic
MECP2
(S123R +3 more)
Single nucleotide variant
(missense variant)
Rett syndrome
GLikely pathogenic
MECP2
(R133P +2 more)
Single nucleotide variant
(missense variant +1 more)
Rett syndrome
GPathogenic
MECP2
Deletion
Rett syndrome
GPathogenic
MECP2
(L208V +3 more)
Single nucleotide variant
(missense variant)
Rett syndrome
+2 more
GConflicting classifications of pathogenicity
MECP2
Single nucleotide variant
(intron variant)
Severe neonatal-onset encephalopathy with microcephaly
GUncertain significance
FOXG1
(E173fs)
Duplication
(frameshift variant)
Rett syndrome
GPathogenic
MECP2
(H145Y +3 more)
Single nucleotide variant
(missense variant)
Rett syndrome
+2 more
GConflicting classifications of pathogenicity
MECP2
(E169fs +3 more)
Deletion
(frameshift variant)
Rett syndrome
GPathogenic
MECP2
Deletion
(frameshift variant)
Inborn genetic diseases
+1 more
GPathogenic/Likely pathogenic
MECP2
(A216V +3 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GBenign/Likely benign
MECP2
(D121V +2 more)
Single nucleotide variant
(missense variant +1 more)
Rett syndrome
GLikely pathogenic
MECP2
Single nucleotide variant
(synonymous variant +1 more)
Rett syndrome
+1 more
GConflicting classifications of pathogenicity
MECP2
(H370Q +3 more)
Single nucleotide variant
(missense variant)
Rett syndrome
GUncertain significance
MECP2
(F157L +2 more)
Single nucleotide variant
(missense variant +1 more)
Rett syndrome
+1 more
GPathogenic/Likely pathogenic
MECP2
(R103Q +1 more)
Single nucleotide variant
(missense variant +1 more)
Severe neonatal-onset encephalopathy with microcephaly
+1 more
GUncertain significance
MECP2
(S150fs +3 more)
Deletion
(frameshift variant)
Rett syndrome
GPathogenic
ATP2B3, BCAP31
+10 more
Copy number gain
Rett syndrome
GPathogenic
MECP2
Deletion
Rett syndrome
GPathogenic
MECP2
(E38fs +1 more)
Insertion
(frameshift variant +1 more)
Intellectual disability
+1 more
GPathogenic
MECP2
Duplication
(inframe_insertion)
Rett syndrome
GUncertain significance
MECP2
(K338T +2 more)
Single nucleotide variant
(missense variant)
Rett syndrome
GUncertain significance
MECP2
(S49fs +1 more)
Duplication
(frameshift variant +1 more)
Rett syndrome
GLikely pathogenic
MECP2
(A285fs +2 more)
Deletion
(frameshift variant)
Rett syndrome
GPathogenic
LOC130068854, MECP2
(M1T)
Single nucleotide variant
(missense variant +2 more)
Rett syndrome
GConflicting classifications of pathogenicity
MECP2
(L293fs +2 more)
Indel
(frameshift variant)
Rett syndrome
GLikely pathogenic
MECP2
(D314N +2 more)
Single nucleotide variant
(missense variant)
Rett syndrome
GLikely benign
MECP2
Indel
Rett syndrome
GPathogenic
MECP2
Microsatellite
(inframe_insertion)
Severe neonatal-onset encephalopathy with microcephaly
+2 more
GUncertain significance
MECP2
(T111P +2 more)
Single nucleotide variant
(missense variant +1 more)
Rett syndrome
GUncertain significance
MECP2
(T111fs +2 more)
Duplication
(frameshift variant +1 more)
not provided
GPathogenic
MECP2
(S77L +1 more)
Single nucleotide variant
(missense variant +1 more)
Rett syndrome
GPathogenic
MECP2
(P388T +3 more)
Single nucleotide variant
(missense variant)
Rett syndrome
GUncertain significance
MECP2
Deletion
(stop lost)
Rett syndrome
GPathogenic
MECP2
(H279Y +3 more)
Single nucleotide variant
(missense variant)
Rett syndrome
GLikely benign
MECP2
Deletion
(splice acceptor variant +2 more)
Rett syndrome
GPathogenic
MECP2
(R20fs)
Duplication
(frameshift variant +1 more)
Rett syndrome
GPathogenic
MECP2
Single nucleotide variant
(intron variant)
Rett syndrome
GLikely benign
MECP2
Deletion
(intron variant)
Rett syndrome
GBenign
MECP2
(P105fs +1 more)
Duplication
(frameshift variant +1 more)
Rett syndrome
GPathogenic
MECP2
(D168Y +2 more)
Single nucleotide variant
(missense variant +1 more)
Rett syndrome
GLikely pathogenic
MECP2
(E169* +2 more)
Single nucleotide variant
(nonsense +1 more)
Severe neonatal-onset encephalopathy with microcephaly
+1 more
GPathogenic
MECP2
(P173T +2 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GConflicting classifications of pathogenicity
MECP2
(G252fs +3 more)
Duplication
(frameshift variant)
Rett syndrome
GPathogenic
MECP2
(S385fs +3 more)
Deletion
(frameshift variant)
Rett syndrome
GPathogenic
MECP2
Single nucleotide variant
(synonymous variant)
Severe neonatal-onset encephalopathy with microcephaly
+4 more
GBenign/Likely benign
MECP2
Single nucleotide variant
(synonymous variant +1 more)
Rett syndrome
GBenign
MECP2
(E318fs +3 more)
Duplication
(frameshift variant)
Rett syndrome
GPathogenic
MECP2
(R201fs +3 more)
Deletion
(frameshift variant)
Rett syndrome
GPathogenic
MECP2
(G20fs +1 more)
Deletion
(frameshift variant +1 more)
Rett syndrome
GPathogenic
MECP2
(E112fs +2 more)
Microsatellite
(frameshift variant +1 more)
Rett syndrome
GPathogenic
MECP2
(T150fs +3 more)
Deletion
(frameshift variant)
Rett syndrome
GLikely pathogenic
MECP2
(V319M +3 more)
Single nucleotide variant
(missense variant)
X-linked intellectual disability-psychosis-macroorchidism syndrome
+4 more
GUncertain significance
MECP2
(R20fs)
Duplication
(frameshift variant +1 more)
Inborn genetic diseases
+1 more
GPathogenic/Likely pathogenic
LOC130068854, MECP2
(A8del)
Microsatellite
(inframe_deletion +1 more)
Inborn genetic diseases
+6 more
GBenign/Likely benign
MECP2
(A141fs +3 more)
Deletion
(frameshift variant)
Rett syndrome
GPathogenic
MECP2
(P342R +3 more)
Single nucleotide variant
(missense variant)
Severe neonatal-onset encephalopathy with microcephaly
+1 more
GUncertain significance
MECP2
(L293fs +6 more)
Deletion
(frameshift variant)
not provided
GPathogenic
MECP2
(P401fs +3 more)
Indel
(frameshift variant)
Rett syndrome
GLikely pathogenic
MECP2
(R190H +2 more)
Single nucleotide variant
(missense variant +1 more)
Rett syndrome
GLikely pathogenic
MECP2
Single nucleotide variant
(synonymous variant)
Severe neonatal-onset encephalopathy with microcephaly
+2 more
GLikely benign
MECP2
(V392fs +3 more)
Duplication
(frameshift variant)
not provided
+3 more
GPathogenic
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