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Items: 8

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
MECP2
(P164fs +3 more)
Indel
(frameshift variant)
Rett syndrome
GPathogenic
MECP2
(S173fs +3 more)
Deletion
(frameshift variant)
Rett syndrome
GPathogenic
MECP2
(R306C +3 more)
Single nucleotide variant
(missense variant)
Rett syndrome
GPathogenic
MECP2
(R168* +2 more)
Single nucleotide variant
(nonsense +1 more)
Inborn genetic diseases
+8 more
GPathogenic
MECP2
Single nucleotide variant
(intron variant)
Rett syndrome
GPathogenic
MECP2
(S78fs +1 more)
Duplication
(frameshift variant +1 more)
Rett syndrome
GPathogenic
BMX, CXorf38
+821 more
Copy number gain
Klinefelter syndrome
GPathogenic
MECP2
Copy number loss
Rett syndrome
GPathogenic
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