"Laboratory of Medical Genetics, University of Torino"[submitter] AND - 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 1802625	NM_001349338.3(FOXP1):c.1569_1570insA (p.Val524fs)	FOXP1 (V423fs +4 more)	Insertion (frameshift variant +2 more)	Intellectual disability-severe speech delay-mild dysmorphism syndrome	GPathogenic
Select item 916082	NM_001349338.3(FOXP1):c.1406C>T (p.Thr469Ile)	FOXP1 (T368I +4 more)	Single nucleotide variant (missense variant +1 more)	Intellectual disability-severe speech delay-mild dysmorphism syndrome +1 more	GLikely pathogenic