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Links from MedGen

Items: 96

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
MECP2
(L138F +2 more)
Single nucleotide variant
(missense variant +1 more)
Severe neonatal-onset encephalopathy with microcephaly
+4 more
GPathogenic
MECP2
(E377G +3 more)
Single nucleotide variant
(missense variant)
X-linked intellectual disability-psychosis-macroorchidism syndrome
GUncertain significance
MECP2
(P168R +3 more)
Single nucleotide variant
(missense variant)
Syndromic X-linked intellectual disability Lubs type
+5 more
GUncertain significance
MECP2
(T172N +2 more)
Single nucleotide variant
(missense variant +1 more)
X-linked intellectual disability-psychosis-macroorchidism syndrome
GUncertain significance
MECP2
(H149fs +3 more)
Deletion
(frameshift variant)
Syndromic X-linked intellectual disability Lubs type
+1 more
GLikely pathogenic
MECP2
(P182S +2 more)
Single nucleotide variant
(missense variant +1 more)
Severe neonatal-onset encephalopathy with microcephaly
+1 more
GUncertain significance
MECP2
(G102fs +2 more)
Duplication
(frameshift variant +1 more)
X-linked intellectual disability-psychosis-macroorchidism syndrome
GPathogenic
MECP2
(T110fs +2 more)
Deletion
(frameshift variant +1 more)
X-linked intellectual disability-psychosis-macroorchidism syndrome
GPathogenic
MECP2
(K212del +3 more)
Microsatellite
(inframe_deletion)
X-linked intellectual disability-psychosis-macroorchidism syndrome
GPathogenic
MECP2
(M1fs +3 more)
Deletion
(frameshift variant +3 more)
Autism, susceptibility to, X-linked 3
+4 more
GPathogenic
MECP2
(P230T +3 more)
Single nucleotide variant
(missense variant)
not specified
+3 more
GUncertain significance
MECP2
(H148Y +3 more)
Single nucleotide variant
(missense variant)
Syndromic X-linked intellectual disability Lubs type
+1 more
GUncertain significance
LOC130068854, MECP2
(M1I)
Single nucleotide variant
(missense variant +2 more)
not provided
+1 more
GPathogenic
MECP2
Single nucleotide variant
(synonymous variant)
Autism, susceptibility to, X-linked 3
+5 more
GBenign/Likely benign
MECP2
(V319M +3 more)
Single nucleotide variant
(missense variant)
X-linked intellectual disability-psychosis-macroorchidism syndrome
+4 more
GUncertain significance
LOC130068854, MECP2
(A8del)
Microsatellite
(inframe_deletion +1 more)
Severe neonatal-onset encephalopathy with microcephaly
+7 more
GBenign/Likely benign
MECP2
(V392fs +3 more)
Duplication
(frameshift variant)
not provided
+3 more
GPathogenic
MECP2
(V392fs +3 more)
Deletion
(frameshift variant)
Rett syndrome
+2 more
GPathogenic/Likely pathogenic
MECP2
Duplication
X-linked intellectual disability-psychosis-macroorchidism syndrome
+2 more
GPathogenic
MECP2
(H383fs +3 more)
Duplication
(frameshift variant)
X-linked intellectual disability-psychosis-macroorchidism syndrome
GPathogenic
MECP2
(K270fs +3 more)
Duplication
(frameshift variant)
not provided
+3 more
GPathogenic
MECP2
(E17K)
Single nucleotide variant
(missense variant +1 more)
Rett syndrome
GUncertain significance
LOC130068854, MECP2
Microsatellite
(genic upstream transcript variant)
Rett syndrome
GUncertain significance
LOC130068854, MECP2
Indel
(5 prime UTR variant)
Rett syndrome
GUncertain significance
LOC130068854, MECP2
Microsatellite
(5 prime UTR variant +1 more)
Rett syndrome
GBenign
LOC130068854, MECP2
Microsatellite
(inframe_insertion +1 more)
Severe neonatal-onset encephalopathy with microcephaly
+2 more
GConflicting classifications of pathogenicity
MECP2
Duplication
X-linked intellectual disability-psychosis-macroorchidism syndrome
GUncertain significance
MECP2
(S318fs +3 more)
Deletion
(frameshift variant)
Rett syndrome
GUncertain significance
MECP2
Deletion
(inframe_deletion)
Rett syndrome
GUncertain significance
MECP2
(H379fs +2 more)
Deletion
(frameshift variant)
Syndromic X-linked intellectual disability Lubs type
+3 more
GPathogenic
MECP2
(T338S +3 more)
Single nucleotide variant
(missense variant)
not specified
+5 more
GUncertain significance
MECP2
(G231R +3 more)
Single nucleotide variant
(missense variant)
Rett syndrome
GLikely benign
MECP2
(A202V +2 more)
Single nucleotide variant
(missense variant +1 more)
MECP2-related disorder
+6 more
GBenign/Likely benign
LOC130068854, MECP2
Microsatellite
(5 prime UTR variant +1 more)
Rett syndrome
GUncertain significance
LOC130068854, MECP2
Microsatellite
(5 prime UTR variant)
Rett syndrome
GBenign
MECP2
(R478Q +3 more)
Single nucleotide variant
(missense variant)
Rett syndrome
GLikely benign
MECP2
(P419S +3 more)
Single nucleotide variant
(missense variant)
Rett syndrome
GBenign
MECP2
(K389fs +3 more)
Deletion
(frameshift variant)
Rett syndrome
GUncertain significance
MECP2
Single nucleotide variant
(intron variant)
Rett syndrome
GBenign
MECP2
Single nucleotide variant
(intron variant)
Rett syndrome
GPathogenic
MECP2
Single nucleotide variant
(intron variant)
Rett syndrome
GLikely benign
MECP2
(P322L +3 more)
Single nucleotide variant
(missense variant)
Rett syndrome
GPathogenic
MECP2
Single nucleotide variant
(synonymous variant)
Rett syndrome
+7 more
GBenign/Likely benign
MECP2
(R309W +3 more)
Single nucleotide variant
(missense variant)
Rett syndrome
GPathogenic
MECP2
(P302A +3 more)
Single nucleotide variant
(missense variant)
X-linked intellectual disability-psychosis-macroorchidism syndrome
+1 more
GPathogenic
MECP2
(K284E +3 more)
Single nucleotide variant
(missense variant)
Rett syndrome
GUncertain significance
MECP2
(A279V +3 more)
Single nucleotide variant
(missense variant)
X-linked intellectual disability-psychosis-macroorchidism syndrome
+3 more
GConflicting classifications of pathogenicity
MECP2
(R268W +3 more)
Single nucleotide variant
(missense variant)
Rett syndrome
GUncertain significance
MECP2
(L26fs +1 more)
Deletion
(frameshift variant +1 more)
Rett syndrome
+1 more
GPathogenic
MECP2
(Q227E +3 more)
Single nucleotide variant
(missense variant)
Rett syndrome
GUncertain significance
MECP2
(T196S +2 more)
Single nucleotide variant
(missense variant +1 more)
Rett syndrome
+8 more
GBenign/Likely benign
MECP2
(P173A +2 more)
Single nucleotide variant
(missense variant +1 more)
Rett syndrome
GLikely benign
MECP2
(P172S +2 more)
Single nucleotide variant
(missense variant +1 more)
Severe neonatal-onset encephalopathy with microcephaly
+1 more
GUncertain significance
MECP2
(R167W +2 more)
Single nucleotide variant
(missense variant +1 more)
Rett syndrome
GPathogenic
MECP2
(P152R +2 more)
Single nucleotide variant
(missense variant +1 more)
Rett syndrome
GPathogenic
MECP2
(R106Q +2 more)
Single nucleotide variant
(missense variant +1 more)
Syndromic X-linked intellectual disability Lubs type
+3 more
GConflicting classifications of pathogenicity
MECP2
(S49* +1 more)
Single nucleotide variant
(nonsense +1 more)
X-linked intellectual disability-psychosis-macroorchidism syndrome
+1 more
GPathogenic
MECP2
(E484fs +3 more)
Microsatellite
(frameshift variant)
Rett syndrome
+1 more
GPathogenic/Likely pathogenic
MECP2
(R453Q +3 more)
Single nucleotide variant
(missense variant)
Rett syndrome
GLikely benign
MECP2
(A439T +3 more)
Single nucleotide variant
(missense variant)
Rett syndrome
+5 more
GBenign/Likely benign
MECP2
Single nucleotide variant
(synonymous variant)
Rett syndrome
+6 more
GBenign/Likely benign
MECP2
(Q406* +3 more)
Single nucleotide variant
(nonsense)
not provided
+2 more
GPathogenic
MECP2
(P405L +3 more)
Single nucleotide variant
(missense variant)
Rett syndrome
GBenign
MECP2
Deletion
(frameshift variant)
Rett syndrome
GPathogenic
MECP2
(P400* +3 more)
Indel
(nonsense)
Inborn genetic diseases
+4 more
GPathogenic
MECP2
(P387L +3 more)
Single nucleotide variant
(missense variant)
Rett syndrome
GBenign
MECP2
(P294fs +3 more)
Indel
(frameshift variant)
Rett syndrome
GPathogenic
MECP2
(L398fs +2 more)
Deletion
(frameshift variant)
Severe neonatal-onset encephalopathy with microcephaly
+3 more
GPathogenic/Likely pathogenic
MECP2
(V380M +3 more)
Single nucleotide variant
(missense variant)
Rett syndrome
GBenign
MECP2
(P379fs +3 more)
Deletion
(frameshift variant)
Rett syndrome
+3 more
GPathogenic
MECP2
(E37fs +1 more)
Microsatellite
(5 prime UTR variant +1 more)
Rett syndrome
+4 more
GPathogenic
MECP2
(P402L +3 more)
Single nucleotide variant
(missense variant)
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)
Rett syndrome
+6 more
GBenign/Likely benign
MECP2
Single nucleotide variant
(synonymous variant +1 more)
not specified
+7 more
GBenign/Likely benign
MECP2
Single nucleotide variant
(synonymous variant)
not provided
+7 more
GBenign/Likely benign
MECP2
(G176fs +3 more)
Deletion
(frameshift variant)
Rett syndrome
GPathogenic
MECP2
(R458H +3 more)
Single nucleotide variant
(missense variant)
Severe neonatal-onset encephalopathy with microcephaly
+7 more
GBenign/Likely benign
MECP2
(E397K +3 more)
Single nucleotide variant
(missense variant)
Rett syndrome
GBenign
MECP2
(T311M +3 more)
Single nucleotide variant
(missense variant)
Rett syndrome
GBenign
MECP2
(I303M +3 more)
Single nucleotide variant
(missense variant)
Rett syndrome
GLikely pathogenic
MECP2
(A443T +3 more)
Single nucleotide variant
(missense variant)
Rett syndrome
GBenign
MECP2
(P384L +3 more)
Single nucleotide variant
(missense variant)
Rett syndrome
GLikely benign
MECP2
(P152A +2 more)
Single nucleotide variant
(missense variant +1 more)
Rett syndrome
GLikely pathogenic
MECP2
(P322S +3 more)
Single nucleotide variant
(missense variant)
Rett syndrome
+1 more
GPathogenic/Likely pathogenic
MECP2
(P225L +3 more)
Single nucleotide variant
(missense variant)
Rett syndrome
GLikely pathogenic
MECP2
(R255* +3 more)
Single nucleotide variant
(nonsense)
Abnormality of the nervous system
+9 more
GPathogenic/Likely pathogenic
MECP2
(E137G +2 more)
Single nucleotide variant
(missense variant +1 more)
Severe neonatal-onset encephalopathy with microcephaly
+1 more
GPathogenic/Likely pathogenic
MECP2
(R306C +3 more)
Single nucleotide variant
(missense variant)
Rett syndrome
GPathogenic
MECP2
(A140V +2 more)
Single nucleotide variant
(missense variant +1 more)
Microcephaly
+15 more
GPathogenic/Likely pathogenic
MECP2
(R294* +3 more)
Single nucleotide variant
(nonsense)
Rett syndrome
GPathogenic
MECP2
(E406* +3 more)
Single nucleotide variant
(nonsense)
Rett syndrome
GPathogenic
MECP2
(R270* +3 more)
Single nucleotide variant
(nonsense)
MECP2-related disorder
+8 more
GPathogenic
MECP2
(R106W +2 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
+7 more
GPathogenic/Likely pathogenic
MECP2
(T158M +2 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
+9 more
GPathogenic/Likely pathogenic
MECP2
(R133C +2 more)
Single nucleotide variant
(missense variant +1 more)
Rett syndrome
GPathogenic
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