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Links from MedGen

Items: 55

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
EMD, FLNA
+9 more
Copy number gain
Syndromic X-linked intellectual disability Lubs type
GPathogenic
ABCD1, AFF2
+140 more
Copy number gain
Syndromic X-linked intellectual disability Lubs type
GPathogenic
MECP2
(V157fs +3 more)
Deletion
(frameshift variant)
Syndromic X-linked intellectual disability Lubs type
+1 more
GPathogenic/Likely pathogenic
MECP2
(H149fs +3 more)
Deletion
(frameshift variant)
Syndromic X-linked intellectual disability Lubs type
+1 more
GLikely pathogenic
CLIC2, CMC4
+68 more
Copy number gain
Chromosome Xq28 duplication syndrome
+1 more
GPathogenic
MECP2
(M1fs +3 more)
Deletion
(frameshift variant +3 more)
Autism, susceptibility to, X-linked 3
+4 more
GPathogenic
MECP2
(H148Y +3 more)
Single nucleotide variant
(missense variant)
Syndromic X-linked intellectual disability Lubs type
+1 more
GUncertain significance
ABCD1, AFF2
+337 more
Duplication
Syndromic X-linked intellectual disability Lubs type
GPathogenic
MECP2
Single nucleotide variant
(intron variant)
Severe neonatal-onset encephalopathy with microcephaly
GUncertain significance
ARHGAP4, AVPR2
+10 more
Duplication
Syndromic X-linked intellectual disability Lubs type
GPathogenic
MECP2
(P376fs +2 more)
Duplication
(frameshift variant)
Severe neonatal-onset encephalopathy with microcephaly
+1 more
GPathogenic/Likely pathogenic
MECP2
Single nucleotide variant
(stop lost)
Severe neonatal-onset encephalopathy with microcephaly
+1 more
GLikely pathogenic
MECP2
Single nucleotide variant
(synonymous variant)
Severe neonatal-onset encephalopathy with microcephaly
+4 more
GBenign/Likely benign
PAGE2B, PAGE3
+733 more
Duplication
Syndromic X-linked intellectual disability Lubs type
GPathogenic
MECP2
(V319M +3 more)
Single nucleotide variant
(missense variant)
X-linked intellectual disability-psychosis-macroorchidism syndrome
+4 more
GUncertain significance
ARHGAP4, EMD
+12 more
Copy number gain
Syndromic X-linked intellectual disability Lubs type
GPathogenic
LOC130068854, MECP2
(A8del)
Microsatellite
(inframe_deletion +1 more)
Inborn genetic diseases
+6 more
GBenign/Likely benign
MECP2
(L293fs +6 more)
Deletion
(frameshift variant)
not provided
GPathogenic
MECP2
Duplication
Syndromic X-linked intellectual disability Lubs type
GPathogenic
MECP2
Duplication
Syndromic X-linked intellectual disability Lubs type
GPathogenic
LOC130068854, MECP2
Microsatellite
(inframe_insertion +1 more)
Rett syndrome
GBenign
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
(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
Single nucleotide variant
(synonymous variant)
not specified
+7 more
GBenign/Likely benign
MECP2
(A279V +3 more)
Single nucleotide variant
(missense variant)
Severe neonatal-onset encephalopathy with microcephaly
+3 more
GConflicting classifications of pathogenicity
MECP2
(R268W +3 more)
Single nucleotide variant
(missense variant)
Rett syndrome
GUncertain significance
MECP2
(T196S +2 more)
Single nucleotide variant
(missense variant +1 more)
not specified
+7 more
GBenign/Likely benign
MECP2
(P173A +2 more)
Single nucleotide variant
(missense variant +1 more)
Rett syndrome
GLikely benign
MECP2
(P152R +2 more)
Single nucleotide variant
(missense variant +1 more)
Rett syndrome
GPathogenic
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
(L293fs +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
(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
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
LOC130068841, LOC130068842
+45 more
Copy number gain
Syndromic X-linked intellectual disability Lubs type
GPathogenic
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
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