"Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine"[submitter - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Format

Sort by

Choose Destination

Search results

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 143406	NM_001110792.2(MECP2):c.1200_1243del (p.Pro400_Pro401insTer)	MECP2	Deletion (frameshift variant)	Rett syndrome	GPathogenic FDA Recognized database
Select item 242862	Single allele	MECP2	Duplication	Syndromic X-linked intellectual disability Lubs type	GPathogenic
Select item 242861	Single allele	MECP2	Duplication	Syndromic X-linked intellectual disability Lubs type	GPathogenic

Format

Sort by

Choose Destination