U.S. flag

An official website of the United States government

Format
Items per page
Sort by
Choose Destination

Links from MedGen

Items: 65

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
MECP2
(K177fs +2 more)
Deletion
(frameshift variant +1 more)
Autism, susceptibility to, X-linked 3
GUncertain significance
MECP2
(M1fs +3 more)
Deletion
(frameshift variant +3 more)
Autism, susceptibility to, X-linked 3
+4 more
GPathogenic
MECP2
(P388fs +2 more)
Indel
(frameshift variant)
Autism, susceptibility to, X-linked 3
GLikely pathogenic
MECP2
(G67V +1 more)
Single nucleotide variant
(missense variant +1 more)
Autism, susceptibility to, X-linked 3
+1 more
GUncertain significance
MECP2
Single nucleotide variant
(synonymous variant)
Severe neonatal-onset encephalopathy with microcephaly
+4 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)
Inborn genetic diseases
+6 more
GBenign/Likely benign
MECP2
Duplication
(frameshift variant)
Rett syndrome
GUncertain significance
LOC130068854, MECP2
Microsatellite
(inframe_insertion +1 more)
Rett syndrome
GBenign
MECP2
(T338S +3 more)
Single nucleotide variant
(missense variant)
not specified
+5 more
GUncertain significance
MECP2
(A202V +2 more)
Single nucleotide variant
(missense variant +1 more)
not specified
+5 more
GBenign/Likely benign
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
Single nucleotide variant
(intron variant)
Rett syndrome
GPathogenic
MECP2
Microsatellite
(splice donor variant)
Rett syndrome
GLikely benign
MECP2
Single nucleotide variant
(intron variant)
Rett syndrome
GLikely benign
MECP2
Single nucleotide variant
(intron variant)
Rett syndrome
GUncertain significance
MECP2
Single nucleotide variant
(synonymous variant)
not specified
+7 more
GBenign/Likely benign
MECP2
(R309W +3 more)
Single nucleotide variant
(missense variant)
Rett syndrome
GPathogenic
MECP2
(R268W +3 more)
Single nucleotide variant
(missense variant)
Rett syndrome
GUncertain significance
MECP2
(G145fs +3 more)
Duplication
(frameshift variant)
Severe neonatal-onset encephalopathy with microcephaly
+2 more
GPathogenic/Likely pathogenic
MECP2
(G206A +2 more)
Single nucleotide variant
(missense variant +1 more)
Rett syndrome
GBenign
MECP2
(T196S +2 more)
Single nucleotide variant
(missense variant +1 more)
not specified
+7 more
GBenign/Likely benign
MECP2
(A181V +2 more)
Single nucleotide variant
(missense variant +1 more)
Autism, susceptibility to, X-linked 3
GUncertain significance
MECP2
(P173A +2 more)
Single nucleotide variant
(missense variant +1 more)
Rett syndrome
GLikely benign
MECP2
(T160S +2 more)
Single nucleotide variant
(missense variant +1 more)
Rett syndrome
GConflicting classifications of pathogenicity
MECP2
(P152R +2 more)
Single nucleotide variant
(missense variant +1 more)
Rett syndrome
GPathogenic
MECP2
(A439T +3 more)
Single nucleotide variant
(missense variant)
Rett syndrome
+4 more
GBenign/Likely benign
MECP2
Single nucleotide variant
(synonymous variant)
Rett syndrome
+5 more
GBenign/Likely benign
MECP2
Deletion
(frameshift variant)
Rett syndrome
GPathogenic
MECP2
(P387L +3 more)
Single nucleotide variant
(missense variant)
Rett syndrome
GBenign
MECP2
(L398fs +2 more)
Deletion
(frameshift variant)
Rett syndrome
+3 more
GPathogenic/Likely pathogenic
MECP2
(V380M +3 more)
Single nucleotide variant
(missense variant)
Rett syndrome
GBenign
MECP2
(P376R +3 more)
Single nucleotide variant
(missense variant)
Severe neonatal-onset encephalopathy with microcephaly
+1 more
GUncertain significance
MECP2
Single nucleotide variant
(3 prime UTR variant)
Rett syndrome
GBenign
MECP2
Single nucleotide variant
(3 prime UTR variant)
Rett syndrome
GUncertain significance
MECP2
Single nucleotide variant
(3 prime UTR variant)
Rett syndrome
GBenign
MECP2
Single nucleotide variant
(3 prime UTR variant)
Rett syndrome
GBenign
MECP2
Single nucleotide variant
(3 prime UTR variant)
not provided
GLikely benign
MECP2
Single nucleotide variant
(3 prime UTR variant)
Rett syndrome
+1 more
GBenign/Likely benign
MECP2
Single nucleotide variant
(3 prime UTR variant)
Rett syndrome
GBenign
MECP2
Single nucleotide variant
(3 prime UTR variant)
Rett syndrome
GBenign
MECP2
Single nucleotide variant
(3 prime UTR variant)
not provided
+1 more
GBenign/Likely benign
MECP2
Single nucleotide variant
(3 prime UTR variant)
Rett syndrome
GBenign
MECP2
Single nucleotide variant
(3 prime UTR variant)
Rett syndrome
GBenign
MECP2
Single nucleotide variant
(3 prime UTR variant)
Rett syndrome
GUncertain significance
MECP2
Single nucleotide variant
(3 prime UTR variant)
Autism, susceptibility to, X-linked 3
GUncertain significance
MECP2
Single nucleotide variant
(3 prime UTR variant)
not provided
+1 more
GConflicting classifications of pathogenicity
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
Single nucleotide variant
(synonymous variant +1 more)
not specified
+6 more
GBenign/Likely benign
MECP2
(E483* +3 more)
Single nucleotide variant
(nonsense)
Rett syndrome
GUncertain significance
MECP2
Single nucleotide variant
(synonymous variant)
History of neurodevelopmental disorder
+7 more
GBenign/Likely benign
MECP2
(G176fs +3 more)
Deletion
(frameshift variant)
Rett syndrome
GPathogenic
MECP2
(R458H +3 more)
Single nucleotide variant
(missense variant)
not specified
+6 more
GBenign/Likely benign
MECP2
(E397K +3 more)
Single nucleotide variant
(missense variant)
Rett syndrome
GBenign
MECP2
(V300I +3 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+2 more
GConflicting classifications of pathogenicity
MECP2
(P152A +2 more)
Single nucleotide variant
(missense variant +1 more)
Rett syndrome
GLikely pathogenic
MECP2
(R255* +3 more)
Single nucleotide variant
(nonsense)
MECP2-Related Disorders
+9 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)
Severe neonatal-onset encephalopathy with microcephaly
+15 more
GPathogenic/Likely pathogenic
MECP2
(R294* +3 more)
Single nucleotide variant
(nonsense)
Rett syndrome
GPathogenic
MECP2
(R270* +3 more)
Single nucleotide variant
(nonsense)
Encephalopathy, neonatal severeMental retardation, X-linked, syndromic 13Rett syndrome
+7 more
GPathogenic
MECP2
(R106W +2 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+7 more
GPathogenic/Likely pathogenic
MECP2
(T158M +2 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
+8 more
GPathogenic/Likely pathogenic
Format
Items per page
Sort by
Choose Destination