"Laboratory of Medical Genetics, National & Kapodistrian University of - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1723888	NM_001110792.2(MECP2):c.1195_1231delinsAG (p.Pro399fs)	MECP2 (P164fs +3 more)	Indel (frameshift variant)	Rett syndrome	GPathogenic
Select item 1723887	NM_001110792.2(MECP2):c.1222_1231del (p.Ser408fs)	MECP2 (S173fs +3 more)	Deletion (frameshift variant)	Rett syndrome	GPathogenic
Select item 11824	NM_001110792.2(MECP2):c.952C>T (p.Arg318Cys)	MECP2 (R306C +3 more)	Single nucleotide variant (missense variant)	Rett syndrome	GPathogenicFDA Recognized database
Select item 11828	NM_001110792.2(MECP2):c.538C>T (p.Arg180Ter)	MECP2 (R168* +2 more)	Single nucleotide variant (nonsense +1 more)	Intellectual disability +7 more	GPathogenic
Select item 156068	NM_001110792.2(MECP2):c.414-3C>G	MECP2	Single nucleotide variant (intron variant)	Rett syndrome	GPathogenicFDA Recognized database
Select item 1723886	NM_001110792.2(MECP2):c.268dup (p.Ser90fs)	MECP2 (S78fs +1 more)	Duplication (frameshift variant +1 more)	Rett syndrome	GPathogenic
Select item 2506546	GRCh37/hg19 Xp22.33-q28(chrX:200855-155240074)	ABCB7, ABCD1 +818 more	Copy number gain	Klinefelter syndrome	GPathogenic
Select item 2506524	GRCh37/hg19 Xq28(chrX:153295818-153298008)	MECP2	Copy number loss	Rett syndrome	GPathogenic

ClinVar