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Items: 9

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
MECP2
Deletion
(inframe_deletion +1 more)
not provided
GLikely pathogenic
MECP2
(G176fs +3 more)
Deletion
(frameshift variant)
Rett syndrome
GPathogenic
MECP2
(R255* +3 more)
Single nucleotide variant
(nonsense)
not provided
+9 more
GPathogenic/Likely pathogenic
H2AB3, H2BW1
+502 more
Copy number loss
Turner syndrome
GPathogenic
ABCB7, ABCD1
+822 more
Copy number loss
Turner syndrome
GPathogenic
SCML2, SEPTIN6
+822 more
Copy number gain
Hypotonia
+2 more
GPathogenic
ABCD1, ARHGAP4
+26 more
Copy number gain
Global developmental delay
GPathogenic
MECP2
Copy number loss
Rett syndrome
GPathogenic
CLIC2, CMC4
+68 more
Copy number gain
Chromosome Xq28 duplication syndrome
+1 more
GPathogenic
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