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

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 973117	NM_015570.4(AUTS2):c.1245_1246del (p.Gln416fs)	AUTS2 (Q416fs)	Deletion (frameshift variant)	Intellectual disability	GLikely pathogenic
Select item 981447	NM_015570.4(AUTS2):c.1482dup (p.Arg495fs)	AUTS2 (R495fs)	Duplication (frameshift variant)	Intellectual disability	GUncertain significance
Select item 372310	NM_015570.4(AUTS2):c.1483C>T (p.Arg495Ter)	AUTS2 (R495*)	Single nucleotide variant (nonsense)	Autism spectrum disorder due to AUTS2 deficiency +1 more	GPathogenic

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