AUTS2[Gene Name] AND ("nonsense"[molecular consequence]) AND (("clinsi - ClinVar - NCBI

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Items: 14

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 391589	NM_015570.4(AUTS2):c.149C>A (p.Ser50Ter)	CT66, AUTS2 (S50*)	Single nucleotide variant (nonsense)	Autism spectrum disorder due to AUTS2 deficiency +1 more	GPathogenic
Select item 620261	NM_015570.4(AUTS2):c.376C>T (p.Arg126Ter)	AUTS2 (R126*)	Single nucleotide variant (nonsense)	Intellectual disability, autosomal dominant 57 +2 more	GPathogenic/Likely pathogenic
Select item 521942	NM_015570.4(AUTS2):c.856A>T (p.Lys286Ter)	AUTS2 (K286*)	Single nucleotide variant (nonsense)	Inborn genetic diseases	GPathogenic
Select item 666574	NM_015570.4(AUTS2):c.901C>T (p.Gln301Ter)	AUTS2 (Q301*)	Single nucleotide variant (nonsense)	Autism spectrum disorder due to AUTS2 deficiency	GPathogenic
Select item 2429962	NM_015570.4(AUTS2):c.940C>T (p.Gln314Ter)	AUTS2 (Q314*)	Single nucleotide variant (nonsense)	Autism spectrum disorder due to AUTS2 deficiency +1 more	GPathogenic/Likely pathogenic
Select item 489014	NM_015570.4(AUTS2):c.946C>T (p.Arg316Ter)	AUTS2 (R316*)	Single nucleotide variant (nonsense)	Autism spectrum disorder due to AUTS2 deficiency +1 more	GPathogenic/Likely pathogenic
Select item 985741	NM_015570.4(AUTS2):c.976C>T (p.Gln326Ter)	AUTS2 (Q326*)	Single nucleotide variant (nonsense)	Inborn genetic diseases	GPathogenic
Select item 1319752	NM_015570.4(AUTS2):c.1018C>T (p.Gln340Ter)	AUTS2 (Q340*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 1805683	NM_015570.4(AUTS2):c.1135C>T (p.Gln379Ter)	AUTS2 (Q379*)	Single nucleotide variant (nonsense)	Autism spectrum disorder due to AUTS2 deficiency	GPathogenic
Select item 2129557	NM_015570.4(AUTS2):c.1421C>G (p.Ser474Ter)	AUTS2 (S474*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 450622	NM_015570.4(AUTS2):c.1582C>T (p.Gln528Ter)	AUTS2 (Q528*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 280395	NM_015570.4(AUTS2):c.1974G>A (p.Trp658Ter)	AUTS2 (W658* +1 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 1457603	NM_015570.4(AUTS2):c.2008C>T (p.Gln670Ter)	AUTS2 (Q670* +1 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 1194595	NM_015570.4(AUTS2):c.2392C>T (p.Arg798Ter)	AUTS2 (R774* +1 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic