"Baylor Genetics"[submitter] AND "AUTS2"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1033782	NM_015570.4(AUTS2):c.2T>C (p.Met1Thr)	AUTS2 (M1T)	Single nucleotide variant (missense variant +1 more)	Autism spectrum disorder due to AUTS2 deficiency	GPathogenic
Select item 1030518	NM_015570.4(AUTS2):c.146C>T (p.Ala49Val)	AUTS2 (A49V)	Single nucleotide variant (missense variant)	Autism spectrum disorder due to AUTS2 deficiency	GUncertain significance
Select item 2084626	NM_015570.4(AUTS2):c.421A>G (p.Arg141Gly)	AUTS2 (R141G)	Single nucleotide variant (missense variant)	Autism spectrum disorder due to AUTS2 deficiency +1 more	GConflicting classifications of pathogenicity
Select item 2582604	NM_015570.4(AUTS2):c.743A>T (p.Asp248Val)	AUTS2 (D248V)	Single nucleotide variant (missense variant)	Autism spectrum disorder due to AUTS2 deficiency	GUncertain significance
Select item 870583	NM_015570.4(AUTS2):c.1534dup (p.Ala512fs)	AUTS2 (A512fs)	Duplication (frameshift variant)	Autism spectrum disorder due to AUTS2 deficiency	GPathogenic
Select item 984610	NM_015570.4(AUTS2):c.1603_1626del (p.531HQHT[1])	AUTS2	Deletion (inframe_deletion)	See cases +3 more	GConflicting classifications of pathogenicity
Select item 1030520	NM_015570.4(AUTS2):c.1766G>C (p.Gly589Ala)	AUTS2 (G589A)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance

ClinVar