ClinVar (all) for Orgtrack (Select 508656) - ClinVar

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

Format

Sort by

Choose Destination

Links from Orgtrack

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1703008	NM_006015.6(ARID1A):c.1920+3_1920+6del	ARID1A	Deletion (splice donor variant)	Intellectual disability, autosomal dominant 14	GLikely pathogenic
Select item 532963	NM_003073.5(SMARCB1):c.1066_1067del (p.Leu356fs)	SMARCB1 (L356fs +3 more)	Microsatellite (frameshift variant)	Intellectual disability, autosomal dominant 15 +1 more	GPathogenic