"Diagnostic Laboratory, Strasbourg University Hospital"[submitter] AND - ClinVar - NCBI

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Items: 9

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 143393	NM_001110792.2(MECP2):c.1198C>T (p.Pro400Ser)	MECP2 (P388S +3 more)	Single nucleotide variant (missense variant)	Rett syndrome	GBenign FDA Recognized database
Select item 978958	NM_001110792.2(MECP2):c.[1076_1102del;1124_1142del]	MECP2 (K140fs +3 more)	Deletion (frameshift variant +1 more)	Intellectual disability	GPathogenic
Select item 280541	NM_001110792.2(MECP2):c.1122dup (p.Lys375fs)	MECP2 (K270fs +3 more)	Duplication (frameshift variant)	not provided +3 more	GPathogenic
Select item 429415	NM_001110792.2(MECP2):c.1120C>T (p.Pro374Ser)	MECP2 (P362S +3 more)	Single nucleotide variant (missense variant)	Rett syndrome	GLikely benign FDA Recognized database
Select item 11824	NM_001110792.2(MECP2):c.952C>T (p.Arg318Cys)	MECP2 (R306C +3 more)	Single nucleotide variant (missense variant)	Rett syndrome	GPathogenic FDA Recognized database
Select item 978959	NM_001110792.2(MECP2):c.799C>G (p.Arg267Gly)	MECP2 (R162G +3 more)	Single nucleotide variant (missense variant)	Intellectual disability	GLikely pathogenic
Select item 11828	NM_001110792.2(MECP2):c.538C>T (p.Arg180Ter)	MECP2 (R168* +2 more)	Single nucleotide variant (nonsense +1 more)	not provided +8 more	GPathogenic
Select item 11823	NM_001110792.2(MECP2):c.455C>T (p.Ala152Val)	MECP2 (A140V +2 more)	Single nucleotide variant (missense variant +1 more)	Rett syndrome +15 more	GPathogenic/Likely pathogenic
Select item 11809	NM_001110792.2(MECP2):c.433C>T (p.Arg145Cys)	MECP2 (R133C +2 more)	Single nucleotide variant (missense variant +1 more)	Rett syndrome	GPathogenic FDA Recognized database