"Seattle Children's Hospital Molecular Genetics Laboratory, Seattle Ch - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1691387	NM_001110792.2(MECP2):c.616_1227del (p.Ser206_Glu409del)	MECP2	Deletion (inframe_deletion +1 more)	not provided	GLikely pathogenic
Select item 95202	NM_001110792.2(MECP2):c.842del (p.Gly281fs)	MECP2 (G176fs +3 more)	Deletion (frameshift variant)	Rett syndrome	GPathogenicFDA Recognized database
Select item 11829	NM_001110792.2(MECP2):c.799C>T (p.Arg267Ter)	MECP2 (R255* +3 more)	Single nucleotide variant (nonsense)	not provided +9 more	GPathogenic/Likely pathogenic
Select item 1703584	GRCh37/hg19 Xq11.1-28(chrX:62685885-155233731)	JPX, KCNE5 +501 more	Copy number loss	Turner syndrome	GPathogenic
Select item 1703580	GRCh37/hg19 Xp22.33-q28(chrX:1-155270560)	GLOD5, GLRA2 +819 more	Copy number loss	Turner syndrome	GPathogenic
Select item 1703579	GRCh37/hg19 Xp22.33-q28(chrX:1-155270560)	NKRF, TLR7 +819 more	Copy number gain	46,XX sex reversal 1 +2 more	GPathogenic
Select item 1703577	GRCh37/hg19 Xq28(chrX:152815772-153624215)	ABCD1, ARHGAP4 +26 more	Copy number gain	Global developmental delay	GPathogenic
Select item 1703559	GRCh37/hg19 Xq28(chrX:153296089-153296700)	MECP2	Copy number loss	Rett syndrome	GPathogenic
Select item 1703536	GRCh37/hg19 Xq28(chrX:152372767-155233731)	ABCD1, ARHGAP4 +68 more	Copy number gain	Chromosome Xq28 duplication syndrome +1 more	GPathogenic

ClinVar