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Links from MedGen

Items: 1 to 100 of 959

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
MECP2
(E143G +2 more)
Single nucleotide variant
(missense variant +1 more)
Severe neonatal-onset encephalopathy with microcephaly
GUncertain significance
MECP2
(L138F +2 more)
Single nucleotide variant
(missense variant +1 more)
Severe neonatal-onset encephalopathy with microcephaly
+4 more
GPathogenic
MECP2
(K236T +3 more)
Single nucleotide variant
(missense variant)
Severe neonatal-onset encephalopathy with microcephaly
GLikely benign
MECP2
Single nucleotide variant
(intron variant)
Severe neonatal-onset encephalopathy with microcephaly
GLikely benign
MECP2
(Q134H +3 more)
Single nucleotide variant
(missense variant)
Severe neonatal-onset encephalopathy with microcephaly
GLikely benign
MECP2
(A271G +3 more)
Single nucleotide variant
(missense variant)
Severe neonatal-onset encephalopathy with microcephaly
GLikely benign
MECP2
(A257V +3 more)
Single nucleotide variant
(missense variant)
Severe neonatal-onset encephalopathy with microcephaly
GUncertain significance
MECP2
(L26F +1 more)
Single nucleotide variant
(missense variant +1 more)
Severe neonatal-onset encephalopathy with microcephaly
GUncertain significance
MECP2
Single nucleotide variant
(synonymous variant)
Severe neonatal-onset encephalopathy with microcephaly
GLikely benign
MECP2
(G20S +1 more)
Single nucleotide variant
(missense variant +1 more)
Severe neonatal-onset encephalopathy with microcephaly
GLikely benign
MECP2
Single nucleotide variant
(intron variant)
Severe neonatal-onset encephalopathy with microcephaly
GLikely benign
MECP2
(P351L +3 more)
Single nucleotide variant
(missense variant)
Severe neonatal-onset encephalopathy with microcephaly
GUncertain significance
MECP2
Deletion
(inframe_deletion)
Severe neonatal-onset encephalopathy with microcephaly
GLikely benign
MECP2
Single nucleotide variant
(synonymous variant)
Severe neonatal-onset encephalopathy with microcephaly
GBenign
MECP2
Single nucleotide variant
(synonymous variant)
Severe neonatal-onset encephalopathy with microcephaly
GLikely benign
MECP2
(A444V +3 more)
Single nucleotide variant
(missense variant)
Severe neonatal-onset encephalopathy with microcephaly
GUncertain significance
MECP2
Single nucleotide variant
(synonymous variant)
Severe neonatal-onset encephalopathy with microcephaly
GLikely benign
MECP2
Single nucleotide variant
(synonymous variant +1 more)
Severe neonatal-onset encephalopathy with microcephaly
GLikely benign
MECP2
(H147R +3 more)
Single nucleotide variant
(missense variant)
Severe neonatal-onset encephalopathy with microcephaly
GLikely benign
MECP2
Single nucleotide variant
(synonymous variant)
Severe neonatal-onset encephalopathy with microcephaly
GLikely benign
MECP2
Single nucleotide variant
(synonymous variant +1 more)
Severe neonatal-onset encephalopathy with microcephaly
GLikely benign
MECP2
(S178R +3 more)
Single nucleotide variant
(missense variant)
Severe neonatal-onset encephalopathy with microcephaly
GUncertain significance
MECP2
Single nucleotide variant
(synonymous variant)
Severe neonatal-onset encephalopathy with microcephaly
GLikely benign
MECP2
(A299V +3 more)
Single nucleotide variant
(missense variant)
Severe neonatal-onset encephalopathy with microcephaly
GLikely benign
MECP2
Single nucleotide variant
(synonymous variant)
Severe neonatal-onset encephalopathy with microcephaly
GLikely benign
MECP2
(R175Q +3 more)
Single nucleotide variant
(missense variant)
Severe neonatal-onset encephalopathy with microcephaly
GUncertain significance
MECP2
Single nucleotide variant
(synonymous variant +1 more)
Severe neonatal-onset encephalopathy with microcephaly
GLikely benign
MECP2
Single nucleotide variant
(synonymous variant +1 more)
Severe neonatal-onset encephalopathy with microcephaly
GLikely benign
MECP2
Single nucleotide variant
(intron variant)
Severe neonatal-onset encephalopathy with microcephaly
GLikely benign
MECP2
Single nucleotide variant
(synonymous variant)
Severe neonatal-onset encephalopathy with microcephaly
GLikely benign
MECP2
Single nucleotide variant
(intron variant)
Severe neonatal-onset encephalopathy with microcephaly
GLikely benign
MECP2
Single nucleotide variant
(synonymous variant +1 more)
Severe neonatal-onset encephalopathy with microcephaly
GLikely benign
MECP2
Single nucleotide variant
(synonymous variant)
Severe neonatal-onset encephalopathy with microcephaly
GLikely benign
MECP2
Single nucleotide variant
(synonymous variant)
Severe neonatal-onset encephalopathy with microcephaly
GBenign
MECP2
Single nucleotide variant
(intron variant)
Severe neonatal-onset encephalopathy with microcephaly
GLikely benign
MECP2
(D237H +3 more)
Single nucleotide variant
(missense variant)
Severe neonatal-onset encephalopathy with microcephaly
GBenign
MECP2
Single nucleotide variant
(synonymous variant +1 more)
Severe neonatal-onset encephalopathy with microcephaly
GLikely benign
MECP2
Single nucleotide variant
(synonymous variant +1 more)
Severe neonatal-onset encephalopathy with microcephaly
GLikely benign
MECP2
Single nucleotide variant
(synonymous variant)
Severe neonatal-onset encephalopathy with microcephaly
GLikely benign
MECP2
(G195S +2 more)
Single nucleotide variant
(missense variant +1 more)
Severe neonatal-onset encephalopathy with microcephaly
GBenign
MECP2
(P292R +3 more)
Single nucleotide variant
(missense variant)
Severe neonatal-onset encephalopathy with microcephaly
GUncertain significance
MECP2
Single nucleotide variant
(synonymous variant)
Severe neonatal-onset encephalopathy with microcephaly
GLikely benign
MECP2
Single nucleotide variant
(synonymous variant)
Severe neonatal-onset encephalopathy with microcephaly
GLikely benign
MECP2
Single nucleotide variant
(synonymous variant +1 more)
MECP2-related disorder
+1 more
GLikely benign
MECP2
Single nucleotide variant
(synonymous variant)
Severe neonatal-onset encephalopathy with microcephaly
GLikely benign
MECP2
Single nucleotide variant
(synonymous variant)
Severe neonatal-onset encephalopathy with microcephaly
GLikely benign
MECP2
Single nucleotide variant
(synonymous variant +1 more)
Severe neonatal-onset encephalopathy with microcephaly
GLikely benign
MECP2
Single nucleotide variant
(synonymous variant +1 more)
Severe neonatal-onset encephalopathy with microcephaly
GLikely benign
MECP2
(Q262H +3 more)
Single nucleotide variant
(missense variant)
Severe neonatal-onset encephalopathy with microcephaly
GUncertain significance
MECP2
Single nucleotide variant
(synonymous variant)
Severe neonatal-onset encephalopathy with microcephaly
GLikely benign
MECP2
(L163P +3 more)
Single nucleotide variant
(missense variant)
Severe neonatal-onset encephalopathy with microcephaly
GLikely benign
MECP2
(H274fs +3 more)
Deletion
(frameshift variant)
Severe neonatal-onset encephalopathy with microcephaly
GPathogenic
MECP2
(G130R +3 more)
Single nucleotide variant
(missense variant)
Severe neonatal-onset encephalopathy with microcephaly
GUncertain significance
MECP2
(E237D +3 more)
Single nucleotide variant
(missense variant)
Severe neonatal-onset encephalopathy with microcephaly
GUncertain significance
MECP2
(R123T +2 more)
Single nucleotide variant
(missense variant +1 more)
Severe neonatal-onset encephalopathy with microcephaly
GLikely pathogenic
LOC130068854, MECP2
(M1fs)
Deletion
(frameshift variant +2 more)
Severe neonatal-onset encephalopathy with microcephaly
GPathogenic
MECP2
(P402S +3 more)
Single nucleotide variant
(missense variant)
Severe neonatal-onset encephalopathy with microcephaly
GLikely benign
MECP2
Single nucleotide variant
(intron variant)
Severe neonatal-onset encephalopathy with microcephaly
GLikely benign
MECP2
Single nucleotide variant
(synonymous variant)
Severe neonatal-onset encephalopathy with microcephaly
GLikely benign
MECP2
(E197fs +3 more)
Duplication
(frameshift variant)
Severe neonatal-onset encephalopathy with microcephaly
GPathogenic
MECP2
Single nucleotide variant
(synonymous variant)
Severe neonatal-onset encephalopathy with microcephaly
GLikely benign
MECP2
(K142E +2 more)
Single nucleotide variant
(missense variant +1 more)
Severe neonatal-onset encephalopathy with microcephaly
GUncertain significance
MECP2
(P388fs +3 more)
Deletion
(frameshift variant)
Severe neonatal-onset encephalopathy with microcephaly
GPathogenic
MECP2
Single nucleotide variant
(intron variant)
Severe neonatal-onset encephalopathy with microcephaly
GLikely benign
MECP2
(K214N +3 more)
Single nucleotide variant
(missense variant)
Severe neonatal-onset encephalopathy with microcephaly
GLikely pathogenic
MECP2
(P246L +3 more)
Single nucleotide variant
(missense variant)
Severe neonatal-onset encephalopathy with microcephaly
GUncertain significance
MECP2
(S10fs)
Duplication
(5 prime UTR variant +1 more)
Severe neonatal-onset encephalopathy with microcephaly
GPathogenic
MECP2
(A351del +3 more)
Microsatellite
(inframe_deletion)
Severe neonatal-onset encephalopathy with microcephaly
GUncertain significance
MECP2
(P292L +3 more)
Single nucleotide variant
(missense variant)
Severe neonatal-onset encephalopathy with microcephaly
GLikely benign
MECP2
(G8R +3 more)
Single nucleotide variant
(missense variant)
Severe neonatal-onset encephalopathy with microcephaly
GBenign
MECP2
Single nucleotide variant
(5 prime UTR variant +1 more)
Severe neonatal-onset encephalopathy with microcephaly
GLikely benign
MECP2
Single nucleotide variant
(synonymous variant +1 more)
Severe neonatal-onset encephalopathy with microcephaly
GLikely benign
MECP2
(P480L +3 more)
Single nucleotide variant
(missense variant)
Severe neonatal-onset encephalopathy with microcephaly
GUncertain significance
MECP2
Single nucleotide variant
(synonymous variant)
Severe neonatal-onset encephalopathy with microcephaly
GLikely benign
MECP2
(L336fs +3 more)
Deletion
(frameshift variant)
Severe neonatal-onset encephalopathy with microcephaly
GPathogenic
MECP2
Single nucleotide variant
(synonymous variant)
Severe neonatal-onset encephalopathy with microcephaly
GLikely benign
MECP2
(T150fs +3 more)
Deletion
(frameshift variant)
Severe neonatal-onset encephalopathy with microcephaly
GPathogenic
MECP2
(S123G +3 more)
Single nucleotide variant
(missense variant)
Severe neonatal-onset encephalopathy with microcephaly
GUncertain significance
MECP2
Single nucleotide variant
(synonymous variant +1 more)
Severe neonatal-onset encephalopathy with microcephaly
GLikely benign
MECP2
Single nucleotide variant
(synonymous variant)
Severe neonatal-onset encephalopathy with microcephaly
GLikely benign
MECP2
Single nucleotide variant
(synonymous variant +1 more)
Severe neonatal-onset encephalopathy with microcephaly
GLikely benign
MECP2
Single nucleotide variant
(synonymous variant +1 more)
Severe neonatal-onset encephalopathy with microcephaly
GLikely benign
MECP2
(P258fs +3 more)
Indel
(frameshift variant)
Severe neonatal-onset encephalopathy with microcephaly
GPathogenic
MECP2
Single nucleotide variant
(synonymous variant +1 more)
MECP2-related disorder
+1 more
GLikely benign
MECP2
Single nucleotide variant
(synonymous variant)
Severe neonatal-onset encephalopathy with microcephaly
GLikely benign
MECP2
Single nucleotide variant
(synonymous variant +1 more)
Severe neonatal-onset encephalopathy with microcephaly
GLikely benign
MECP2
(V382L +3 more)
Single nucleotide variant
(missense variant)
Severe neonatal-onset encephalopathy with microcephaly
GUncertain significance
MECP2
Single nucleotide variant
(intron variant)
Severe neonatal-onset encephalopathy with microcephaly
GLikely benign
MECP2
Single nucleotide variant
(synonymous variant)
Severe neonatal-onset encephalopathy with microcephaly
GLikely benign
MECP2
(E270G +3 more)
Single nucleotide variant
(missense variant)
Severe neonatal-onset encephalopathy with microcephaly
GUncertain significance
MECP2
(R306fs +3 more)
Deletion
(frameshift variant)
Severe neonatal-onset encephalopathy with microcephaly
GPathogenic
MECP2
(A186S +3 more)
Single nucleotide variant
(missense variant)
Severe neonatal-onset encephalopathy with microcephaly
GUncertain significance
MECP2
(R91P +1 more)
Single nucleotide variant
(missense variant +1 more)
Severe neonatal-onset encephalopathy with microcephaly
GUncertain significance
MECP2
(L160fs +3 more)
Indel
(frameshift variant)
Severe neonatal-onset encephalopathy with microcephaly
GPathogenic
MECP2
(P397fs +3 more)
Indel
(frameshift variant)
Severe neonatal-onset encephalopathy with microcephaly
GPathogenic
MECP2
Single nucleotide variant
(synonymous variant)
Severe neonatal-onset encephalopathy with microcephaly
GLikely benign
MECP2
(A279T +3 more)
Single nucleotide variant
(missense variant)
Severe neonatal-onset encephalopathy with microcephaly
GUncertain significance
MECP2
Single nucleotide variant
(synonymous variant)
Severe neonatal-onset encephalopathy with microcephaly
GLikely benign
MECP2
(P312S +3 more)
Indel
(missense variant)
Severe neonatal-onset encephalopathy with microcephaly
GLikely benign
MECP2
Single nucleotide variant
(synonymous variant)
Severe neonatal-onset encephalopathy with microcephaly
GLikely benign
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