"Institute of Human Genetics, University of Leipzig Medical Center"[su - ClinVar - NCBI

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Items: 9

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 982997	NM_015570.4(AUTS2):c.916A>G (p.Ile306Val)	AUTS2 (I306V)	Single nucleotide variant (missense variant)	Autism spectrum disorder due to AUTS2 deficiency	GUncertain significance
Select item 982730	NM_015570.4(AUTS2):c.1193G>C (p.Ser398Thr)	AUTS2 (S398T)	Single nucleotide variant (missense variant)	Autism spectrum disorder due to AUTS2 deficiency	GLikely benign
Select item 373078	NM_015570.4(AUTS2):c.1298del (p.Leu433fs)	AUTS2 (L433fs)	Deletion (frameshift variant)	not provided +1 more	GPathogenic
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 +2 more	GConflicting classifications of pathogenicity
Select item 2578436	NM_015570.4(AUTS2):c.1557C>A (p.Tyr519Ter)	AUTS2 (Y519*)	Single nucleotide variant (nonsense)	Autism spectrum disorder due to AUTS2 deficiency	GLikely pathogenic
Select item 2627571	NM_015570.4(AUTS2):c.1617C>A (p.His539Gln)	AUTS2 (H539Q)	Single nucleotide variant (missense variant)	Autism spectrum disorder due to AUTS2 deficiency	GUncertain significance
Select item 982824	NM_015570.4(AUTS2):c.2215G>A (p.Ala739Thr)	AUTS2 (A715T +1 more)	Single nucleotide variant (missense variant)	Autism spectrum disorder due to AUTS2 deficiency	GLikely benign
Select item 997828	Single allele	AUTS2	Deletion	Intellectual disability	GPathogenic
Select item 1325825	NM_015570.4:c.(690+1_691-1)_(742+1_743-1)del	AUTS2	Deletion	Autism spectrum disorder due to AUTS2 deficiency	GPathogenic