"Diagnostic Laboratory, Strasbourg University Hospital"[submitter] AND - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 973122	NM_001282531.3(ADNP):c.2474G>A (p.Gly825Glu)	ADNP (G825E)	Single nucleotide variant (missense variant)	Intellectual disability	GUncertain significance
Select item 190278	NM_001282531.3(ADNP):c.2156dup (p.Tyr719Ter)	ADNP (Y719*)	Duplication (nonsense)	Inborn genetic diseases +3 more	GPathogenic/Likely pathogenic
Select item 973124	NM_001282531.3(ADNP):c.1239_1240del (p.Gln414fs)	ADNP (Q414fs)	Microsatellite (frameshift variant)	ADNP-related disorder	GPathogenic
Select item 973125	NM_001282531.3(ADNP):c.1184dup (p.Ser396fs)	ADNP (S396fs)	Duplication (frameshift variant)	Intellectual disability	GPathogenic
Select item 1701042	NM_001282531.3(ADNP):c.1084C>G (p.Gln362Glu)	ADNP (Q362E)	Single nucleotide variant (missense variant)	Seizure	GUncertain significance
Select item 973123	NM_001282531.3(ADNP):c.67_70del (p.Leu23fs)	ADNP (L23fs)	Deletion (frameshift variant)	Intellectual disability	GPathogenic

ClinVar