"Revvity Omics, Revvity"[submitter] AND "AUTS2"[gene] - ClinVar

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Items: 27

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2439437	NM_015570.4(AUTS2):c.91G>A (p.Gly31Arg)	AUTS2, LOC129998550 (G31R)	Single nucleotide variant (missense variant)	Autism spectrum disorder due to AUTS2 deficiency	GUncertain significance
Select item 1314638	NM_015570.4(AUTS2):c.105CGG[5] (p.Gly39dup)	AUTS2, LOC129998550	Microsatellite (inframe_insertion)	Autism spectrum disorder due to AUTS2 deficiency +1 more	GUncertain significance
Select item 2439430	NM_015570.4(AUTS2):c.128C>T (p.Thr43Ile)	AUTS2, LOC129998550 (T43I)	Single nucleotide variant (missense variant)	Autism spectrum disorder due to AUTS2 deficiency	GUncertain significance
Select item 620261	NM_015570.4(AUTS2):c.376C>T (p.Arg126Ter)	AUTS2 (R126*)	Single nucleotide variant (nonsense)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 2439442	NM_015570.4(AUTS2):c.401C>T (p.Ser134Phe)	AUTS2 (S134F)	Single nucleotide variant (missense variant)	Autism spectrum disorder due to AUTS2 deficiency	GUncertain significance
Select item 1324010	NM_015570.4(AUTS2):c.479_487delinsC (p.Gln160fs)	AUTS2 (Q160fs)	Indel (frameshift variant)	Autism spectrum disorder due to AUTS2 deficiency	GPathogenic
Select item 2439424	NM_015570.4(AUTS2):c.603C>T (p.Ser201=)	AUTS2	Single nucleotide variant (synonymous variant)	Autism spectrum disorder due to AUTS2 deficiency	GUncertain significance
Select item 2439434	NM_015570.4(AUTS2):c.626G>A (p.Ser209Asn)	AUTS2 (S209N)	Single nucleotide variant (missense variant)	Autism spectrum disorder due to AUTS2 deficiency +1 more	GUncertain significance
Select item 2439426	NM_015570.4(AUTS2):c.1203C>T (p.Leu401=)	AUTS2	Single nucleotide variant (synonymous variant)	Autism spectrum disorder due to AUTS2 deficiency	GUncertain significance
Select item 2439431	NM_015570.4(AUTS2):c.1276C>G (p.Pro426Ala)	AUTS2 (P426A)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2101390	NM_015570.4(AUTS2):c.1349_1357dup (p.Ala452_His453insProProAla)	AUTS2	Duplication (inframe_insertion)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2439425	NM_015570.4(AUTS2):c.1527C>A (p.Asp509Glu)	AUTS2 (D509E)	Single nucleotide variant (missense variant)	Autism spectrum disorder due to AUTS2 deficiency	GConflicting classifications of pathogenicity
Select item 984610	NM_015570.4(AUTS2):c.1603_1626del (p.531HQHT[1])	AUTS2	Deletion (inframe_deletion)	Inborn genetic diseases +3 more	GConflicting classifications of pathogenicity
Select item 2439441	NM_015570.4(AUTS2):c.1691T>C (p.Phe564Ser)	AUTS2 (F564S)	Single nucleotide variant (missense variant)	Autism spectrum disorder due to AUTS2 deficiency	GUncertain significance
Select item 2439433	NM_015570.4(AUTS2):c.1774C>A (p.Pro592Thr)	AUTS2 (P592T)	Single nucleotide variant (missense variant)	Autism spectrum disorder due to AUTS2 deficiency	GUncertain significance
Select item 2439439	NM_015570.4(AUTS2):c.1908A>G (p.Thr636=)	AUTS2	Single nucleotide variant (synonymous variant)	Autism spectrum disorder due to AUTS2 deficiency	GUncertain significance
Select item 2439444	NM_015570.4(AUTS2):c.2396C>T (p.Thr799Met)	AUTS2 (T775M +1 more)	Single nucleotide variant (missense variant)	Autism spectrum disorder due to AUTS2 deficiency	GUncertain significance
Select item 493454	NM_015570.4(AUTS2):c.2497C>T (p.Arg833Ter)	AUTS2 (R833* +1 more)	Single nucleotide variant (nonsense)	Autism spectrum disorder due to AUTS2 deficiency +1 more	GUncertain significance
Select item 2439436	NM_015570.4(AUTS2):c.2750C>T (p.Pro917Leu)	AUTS2 (P893L +1 more)	Single nucleotide variant (missense variant)	Autism spectrum disorder due to AUTS2 deficiency	GUncertain significance
Select item 2237849	NM_015570.4(AUTS2):c.2791G>A (p.Glu931Lys)	AUTS2 (E931K +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2439432	NM_015570.4(AUTS2):c.2891C>T (p.Pro964Leu)	AUTS2 (P940L +1 more)	Single nucleotide variant (missense variant)	Autism spectrum disorder due to AUTS2 deficiency	GUncertain significance
Select item 2439440	NM_015570.4(AUTS2):c.3001C>G (p.Arg1001Gly)	AUTS2 (R1001G +1 more)	Single nucleotide variant (missense variant)	Autism spectrum disorder due to AUTS2 deficiency	GUncertain significance
Select item 1936300	NM_015570.4(AUTS2):c.3299C>A (p.Pro1100Gln)	AUTS2 (P1100Q +1 more)	Single nucleotide variant (missense variant)	Autism spectrum disorder due to AUTS2 deficiency +1 more	GConflicting classifications of pathogenicity
Select item 2439428	NM_015570.4(AUTS2):c.3419G>T (p.Arg1140Leu)	AUTS2 (R1116L +1 more)	Single nucleotide variant (missense variant)	Autism spectrum disorder due to AUTS2 deficiency	GUncertain significance
Select item 2439427	NM_015570.4(AUTS2):c.3434G>T (p.Arg1145Leu)	AUTS2 (R1121L +1 more)	Single nucleotide variant (missense variant)	Autism spectrum disorder due to AUTS2 deficiency +1 more	GUncertain significance
Select item 2439443	NM_015570.4(AUTS2):c.3520T>A (p.Ser1174Thr)	AUTS2 (S1150T +1 more)	Single nucleotide variant (missense variant)	Autism spectrum disorder due to AUTS2 deficiency	GUncertain significance
Select item 2439435	NM_015570.4(AUTS2):c.3643G>A (p.Ala1215Thr)	AUTS2 (A1191T +1 more)	Single nucleotide variant (missense variant)	Autism spectrum disorder due to AUTS2 deficiency +1 more	GUncertain significance

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Items: 27