C4014538[trait identifier] AND "Biochemical Molecular Genetic Laborato - 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 800950	NM_001282531.3(ADNP):c.2157del (p.Thr718_Tyr719insTer)	ADNP	Deletion (nonsense)	ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder	GLikely pathogenic
Select item 828170	NM_001282531.3(ADNP):c.1265dup (p.Gln423fs)	ADNP (Q423fs)	Duplication (frameshift variant)	ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder	GLikely pathogenic