"Institute of Medical Genetics and Applied Genomics, University Hospit - 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 986900	NM_001378120.1(MBD5):c.254_255del (p.Arg85fs)	MBD5 (R85fs)	Microsatellite (frameshift variant)	not provided	GLikely pathogenic
Select item 536667	NM_001378120.1(MBD5):c.397+1G>A	MBD5	Single nucleotide variant (splice donor variant)	Intellectual disability, autosomal dominant 1 +1 more	GPathogenic