AUTS2[gene] and "single gene"[properties] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1290296	NM_015570.4(AUTS2):c.-1018GGC[7]	AUTS2	Microsatellite (5 prime UTR variant)	not provided	GBenign
Select item 1199522	NM_015570.4(AUTS2):c.-981T>C	AUTS2	Single nucleotide variant (5 prime UTR variant)	not provided	GLikely benign
Select item 1195316	NM_015570.4(AUTS2):c.-431A>G	AUTS2	Single nucleotide variant (5 prime UTR variant)	not provided	GLikely benign
Select item 1178068	NM_015570.4(AUTS2):c.-3A>G	AUTS2	Single nucleotide variant (5 prime UTR variant)	not provided	GBenign
Select item 2761164	NM_015570.4(AUTS2):c.1A>G (p.Met1Val)	AUTS2 (M1V)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1174542	NM_015570.4(AUTS2):c.1A>T (p.Met1Leu)	AUTS2 (M1L)	Single nucleotide variant (missense variant +1 more)	Autism spectrum disorder due to AUTS2 deficiency	GPathogenic
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 975656	NM_015570.4(AUTS2):c.11C>T (p.Pro4Leu)	AUTS2 (P4L)	Single nucleotide variant (missense variant)	AUTS2-related disorder +1 more	GBenign
Select item 2535839	NM_015570.4(AUTS2):c.16C>T (p.Arg6Trp)	AUTS2 (R6W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3132363	NM_015570.4(AUTS2):c.26G>A (p.Gly9Glu)	AUTS2 (G9E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1212096	NM_015570.4(AUTS2):c.28C>G (p.Leu10Val)	AUTS2 (L10V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2662364	NM_015570.4(AUTS2):c.40C>T (p.Arg14Trp)	AUTS2 (R14W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1307171	NM_015570.4(AUTS2):c.41_46dup (p.Arg15_Ser16insTrpArg)	AUTS2	Duplication (inframe_insertion)	not provided	GUncertain significance
Select item 1205753	NM_015570.4(AUTS2):c.64C>T (p.Arg22Trp)	AUTS2 (R22W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2789082	NM_015570.4(AUTS2):c.142C>G (p.Leu48Val)	AUTS2 (L48V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1213793	NM_015570.4(AUTS2):c.142C>T (p.Leu48Phe)	AUTS2 (L48F)	Single nucleotide variant (missense variant)	Autism spectrum disorder due to AUTS2 deficiency	GUncertain significance
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 2657526	NM_015570.4(AUTS2):c.147C>T (p.Ala49=)	AUTS2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2876995	NM_015570.4(AUTS2):c.149C>T (p.Ser50Leu)	AUTS2 (S50L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2657527	NM_015570.4(AUTS2):c.153G>C (p.Ser51=)	AUTS2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 742286	NM_015570.4(AUTS2):c.156G>C (p.Ser52=)	AUTS2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2172974	NM_015570.4(AUTS2):c.167A>G (p.Lys56Arg)	AUTS2 (K56R)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2080939	NM_015570.4(AUTS2):c.185C>T (p.Pro62Leu)	AUTS2 (P62L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2147952	NM_015570.4(AUTS2):c.188C>T (p.Pro63Leu)	AUTS2 (P63L)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 702447	NM_015570.4(AUTS2):c.188C>A (p.Pro63Gln)	AUTS2 (P63Q)	Single nucleotide variant (missense variant)	Autism spectrum disorder due to AUTS2 deficiency +1 more	GLikely benign
Select item 2987231	NM_015570.4(AUTS2):c.200C>T (p.Pro67Leu)	AUTS2 (P67L)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 732270	NM_015570.4(AUTS2):c.203C>G (p.Ser68Cys)	AUTS2 (S68C)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2662670	NM_015570.4(AUTS2):c.205C>T (p.Arg69Trp)	AUTS2 (R69W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1254367	NM_015570.4(AUTS2):c.210C>T (p.Pro70=)	AUTS2	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 3132361	NM_015570.4(AUTS2):c.218del (p.Pro73fs)	AUTS2 (P73fs)	Deletion (frameshift variant)	Inborn genetic diseases	GPathogenic
Select item 2905895	NM_015570.4(AUTS2):c.219G>C (p.Pro73=)	AUTS2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2574465	NM_015570.4(AUTS2):c.221G>A (p.Arg74Gln)	AUTS2 (R74Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1700371	NM_015570.4(AUTS2):c.224G>C (p.Arg75Thr)	AUTS2 (R75T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 387357	NM_015570.4(AUTS2):c.241A>G (p.Thr81Ala)	AUTS2 (T81A)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2724987	NM_015570.4(AUTS2):c.245C>G (p.Ser82Trp)	AUTS2 (S82W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2964487	NM_015570.4(AUTS2):c.246G>T (p.Ser82=)	AUTS2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2191496	NM_015570.4(AUTS2):c.282C>T (p.Thr94=)	AUTS2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1805813	NM_015570.4(AUTS2):c.293C>G (p.Thr98Ser)	AUTS2 (T98S)	Single nucleotide variant (missense variant)	Autism spectrum disorder due to AUTS2 deficiency	GUncertain significance
Select item 2733590	NM_015570.4(AUTS2):c.297T>C (p.Phe99=)	AUTS2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1259677	NM_015570.4(AUTS2):c.309+16del	AUTS2	Deletion (intron variant)	not provided	GBenign
Select item 1976578	NM_015570.4(AUTS2):c.309+19C>T	AUTS2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2985126	NM_015570.4(AUTS2):c.309+20C>T	AUTS2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1203805	NM_015570.4(AUTS2):c.309+21C>A	AUTS2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1260245	NM_015570.4(AUTS2):c.309+92CTGT[9]	AUTS2	Microsatellite (intron variant)	not provided	GBenign
Select item 1267237	NM_015570.4(AUTS2):c.309+92CTGT[7]	AUTS2	Microsatellite (intron variant)	not provided	GBenign
Select item 1205107	NM_015570.4(AUTS2):c.309+289G>A	AUTS2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1342370	NM_015570.4(AUTS2):c.310-148390G>C	AUTS2	Single nucleotide variant (intron variant)	Autism spectrum disorder due to AUTS2 deficiency	GUncertain significance
Select item 1213773	NM_015570.4(AUTS2):c.310-100635A>G	AUTS2	Single nucleotide variant (intron variant)	Autism spectrum disorder due to AUTS2 deficiency	GUncertain significance
Select item 2193950	NM_015570.4(AUTS2):c.310-14C>T	AUTS2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2046428	NM_015570.4(AUTS2):c.319_321dup (p.Ala107_Leu108insAla)	AUTS2	Duplication (inframe_insertion)	not provided	GUncertain significance
Select item 2894635	NM_015570.4(AUTS2):c.318A>G (p.Val106=)	AUTS2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2189068	NM_015570.4(AUTS2):c.319G>A (p.Ala107Thr)	AUTS2 (A107T)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1312187	NM_015570.4(AUTS2):c.320C>A (p.Ala107Glu)	AUTS2 (A107E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2857947	NM_015570.4(AUTS2):c.338G>A (p.Arg113His)	AUTS2 (R113H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1188595	NM_015570.4(AUTS2):c.345G>T (p.Glu115Asp)	AUTS2 (E115D)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 697442	NM_015570.4(AUTS2):c.349C>T (p.Arg117Cys)	AUTS2 (R117C)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign/Likely benign
Select item 2845950	NM_015570.4(AUTS2):c.351C>T (p.Arg117=)	AUTS2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2073152	NM_015570.4(AUTS2):c.355A>T (p.Thr119Ser)	AUTS2 (T119S)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 559629	NM_015570.4(AUTS2):c.357_361dup (p.Leu121fs)	AUTS2 (L121fs)	Duplication (frameshift variant)	Autism spectrum disorder due to AUTS2 deficiency	GPathogenic
Select item 2079213	NM_015570.4(AUTS2):c.356C>T (p.Thr119Met)	AUTS2 (T119M)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 789010	NM_015570.4(AUTS2):c.357G>A (p.Thr119=)	AUTS2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 1706197	NM_015570.4(AUTS2):c.377G>A (p.Arg126Gln)	AUTS2 (R126Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2803997	NM_015570.4(AUTS2):c.382G>A (p.Ala128Thr)	AUTS2 (A128T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 701814	NM_015570.4(AUTS2):c.385C>G (p.Leu129Val)	AUTS2 (L129V)	Single nucleotide variant (missense variant)	AUTS2-related disorder +2 more	GBenign/Likely benign
Select item 2430359	NM_015570.4(AUTS2):c.390_393dup (p.Gly132fs)	AUTS2 (G132fs)	Duplication (frameshift variant)	Autism spectrum disorder due to AUTS2 deficiency	GPathogenic
Select item 3242554	NM_015570.4(AUTS2):c.392_393dup (p.Gly132fs)	AUTS2 (G132fs)	Duplication (frameshift variant)	Autism spectrum disorder due to AUTS2 deficiency	GPathogenic
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 786545	NM_015570.4(AUTS2):c.402C>T (p.Ser134=)	AUTS2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 3132372	NM_015570.4(AUTS2):c.451G>T (p.Asp151Tyr)	AUTS2 (D151Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2726215	NM_015570.4(AUTS2):c.452A>G (p.Asp151Gly)	AUTS2 (D151G)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2995870	NM_015570.4(AUTS2):c.454C>A (p.Arg152=)	AUTS2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2444256	NM_015570.4(AUTS2):c.454C>T (p.Arg152Ter)	AUTS2 (R152*)	Single nucleotide variant (nonsense)	Autism spectrum disorder due to AUTS2 deficiency	GLikely pathogenic
Select item 424284	NM_015570.4(AUTS2):c.462T>G (p.Asn154Lys)	AUTS2 (N154K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2066611	NM_015570.4(AUTS2):c.466C>T (p.Arg156Cys)	AUTS2 (R156C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1810676	NM_015570.4(AUTS2):c.466C>A (p.Arg156Ser)	AUTS2 (R156S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1878979	NM_015570.4(AUTS2):c.467G>T (p.Arg156Leu)	AUTS2 (R156L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 624281	NM_015570.4(AUTS2):c.467G>A (p.Arg156His)	AUTS2 (R156H)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 2501919	NM_015570.4(AUTS2):c.476G>T (p.Cys159Phe)	AUTS2 (C159F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1325531	NM_015570.4(AUTS2):c.478C>T (p.Gln160Ter)	AUTS2 (Q160*)	Single nucleotide variant (nonsense)	Autism spectrum disorder due to AUTS2 deficiency	GLikely pathogenic
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 2973773	NM_015570.4(AUTS2):c.483C>T (p.His161=)	AUTS2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2856851	NM_015570.4(AUTS2):c.507G>A (p.Pro169=)	AUTS2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2419116	NM_015570.4(AUTS2):c.511G>A (p.Ala171Thr)	AUTS2 (A171T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2442639	NM_015570.4(AUTS2):c.521A>G (p.Gln174Arg)	AUTS2 (Q174R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2756074	NM_015570.4(AUTS2):c.522+6G>C	AUTS2	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2967524	NM_015570.4(AUTS2):c.522+17T>C	AUTS2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2863496	NM_015570.4(AUTS2):c.522+19G>A	AUTS2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1703103	NM_015570.4(AUTS2):c.522+32G>A	AUTS2	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2051593	NM_015570.4(AUTS2):c.525C>T (p.Leu175=)	AUTS2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2079216	NM_015570.4(AUTS2):c.536A>G (p.Gln179Arg)	AUTS2 (Q179R)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1206428	NM_015570.4(AUTS2):c.540C>T (p.Asn180=)	AUTS2	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 1313424	NM_015570.4(AUTS2):c.545G>A (p.Cys182Tyr)	AUTS2 (C182Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2610381	NM_015570.4(AUTS2):c.557A>G (p.Asp186Gly)	AUTS2 (D186G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 432832	NM_015570.4(AUTS2):c.568G>A (p.Ala190Thr)	AUTS2 (A190T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2520631	NM_015570.4(AUTS2):c.571A>C (p.Ser191Arg)	AUTS2 (S191R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2003922	NM_015570.4(AUTS2):c.576A>G (p.Gly192=)	AUTS2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 425412	NM_015570.4(AUTS2):c.581C>T (p.Ser194Phe)	AUTS2 (S194F)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 2719323	NM_015570.4(AUTS2):c.596G>A (p.Arg199Gln)	AUTS2 (R199Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

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