C4014538[trait identifier] AND "3billion"[submitter] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 139632	NM_001282531.3(ADNP):c.2496_2499del (p.Asn832fs)	ADNP (N832fs)	Microsatellite (frameshift variant)	ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder +2 more	GPathogenic
Select item 1687440	NM_001282531.3(ADNP):c.2278G>T (p.Glu760Ter)	ADNP (E760*)	Single nucleotide variant (nonsense)	ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder	GLikely pathogenic
Select item 280623	NM_001282531.3(ADNP):c.2157C>A (p.Tyr719Ter)	ADNP (Y719*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 139635	NM_001282531.3(ADNP):c.2157C>G (p.Tyr719Ter)	ADNP (Y719*)	Single nucleotide variant (nonsense)	ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder +2 more	GPathogenic
Select item 1705565	NM_001282531.3(ADNP):c.443_446del (p.Lys148fs)	ADNP (K148fs)	Deletion (frameshift variant)	ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder	GLikely pathogenic
Select item 1333276	NM_001282531.3(ADNP):c.321del (p.Asn108fs)	ADNP (N108fs)	Deletion (frameshift variant)	ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder	GLikely pathogenic

ClinVar