26053[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146075	GRCh38/hg38 7p22.3-q36.3(chr7:54185-159282390)x1	CCDC146, CCDC201 +4735 more	Copy number loss	See cases	GPathogenic
Select item 154461	GRCh38/hg38 7q11.21-11.23(chr7:62736364-75432710)x1	LOC129998532, LOC129998533 +350 more	Copy number loss	See cases	GPathogenic
Select item 154104	GRCh38/hg38 7q11.21-11.23(chr7:62977085-75415352)x3	LOC129998632, LOC129998633 +349 more	Copy number gain	See cases	GPathogenic
Select item 57022	GRCh38/hg38 7q11.21-11.22(chr7:64657050-72243063)x1	ASL, AUTS2 +157 more	Copy number loss	See cases	GPathogenic
Select item 58552	GRCh38/hg38 7q11.22-11.23(chr7:68668307-73710276)x1	AUTS2, BAZ1B +117 more	Copy number loss	See cases	GPathogenic
Select item 144764	GRCh38/hg38 7q11.22(chr7:69000832-70244446)x1	AUTS2, CT66 +24 more	Copy number loss	See cases	GPathogenic
Select item 60237	GRCh38/hg38 7q11.22-11.23(chr7:69382353-77823832)x1	SPDYE12, SPDYE13 +330 more	Copy number loss	See cases	GPathogenic
Select item 149769	GRCh38/hg38 7q11.22(chr7:69477169-69865814)x1	AUTS2, CT66 +14 more	Copy number loss	See cases	GUncertain significance
Select item 144933	GRCh38/hg38 7q11.22(chr7:69588764-69765039)x1	AUTS2, CT66 +10 more	Copy number loss	See cases	GPathogenic
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 1226087	NM_015570.4(AUTS2):c.-740T>G	AUTS2, LOC129998549	Single nucleotide variant (5 prime UTR variant)	not provided	GBenign
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 condition +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 2073845	NM_015570.4(AUTS2):c.68A>G (p.Glu23Gly)	AUTS2, LOC129998550 (E23G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2657525	NM_015570.4(AUTS2):c.78C>T (p.Ser26=)	AUTS2, LOC129998550	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2704710	NM_015570.4(AUTS2):c.79C>T (p.Arg27Trp)	AUTS2, LOC129998550 (R27W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2892806	NM_015570.4(AUTS2):c.87G>T (p.Gly29=)	AUTS2, LOC129998550	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2394218	NM_015570.4(AUTS2):c.89T>G (p.Leu30Arg)	AUTS2, LOC129998550 (L30R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 2412924	NM_015570.4(AUTS2):c.96_119del (p.Ala34_Gly41del)	LOC129998550, AUTS2	Deletion (inframe_deletion)	not provided	GUncertain significance
Select item 1701526	NM_015570.4(AUTS2):c.92G>T (p.Gly31Val)	AUTS2, LOC129998550 (G31V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1412198	NM_015570.4(AUTS2):c.94G>A (p.Ala32Thr)	AUTS2, LOC129998550 (A32T)	Single nucleotide variant (missense variant)	not provided	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 2608320	NM_015570.4(AUTS2):c.106G>C (p.Gly36Arg)	AUTS2, LOC129998550 (G36R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 748288	NM_015570.4(AUTS2):c.108C>G (p.Gly36=)	AUTS2, LOC129998550	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1968429	NM_015570.4(AUTS2):c.112G>T (p.Gly38Cys)	AUTS2, LOC129998550 (G38C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1955743	NM_015570.4(AUTS2):c.115G>A (p.Gly39Arg)	AUTS2, LOC129998550 (G39R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 385922	NM_015570.4(AUTS2):c.118G>A (p.Ala40Thr)	LOC129998550, AUTS2 (A40T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2806650	NM_015570.4(AUTS2):c.125G>A (p.Arg42Gln)	AUTS2, LOC129998550 (R42Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3022499	NM_015570.4(AUTS2):c.126G>T (p.Arg42=)	AUTS2, LOC129998550	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 1618712	NM_015570.4(AUTS2):c.129C>T (p.Thr43=)	AUTS2, LOC129998550	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2893543	NM_015570.4(AUTS2):c.131G>A (p.Arg44Gln)	AUTS2, LOC129998550 (R44Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2776592	NM_015570.4(AUTS2):c.134C>A (p.Ala45Glu)	AUTS2, LOC129998550 (A45E)	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 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 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)	AUTS2-related condition +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 148274	GRCh38/hg38 7q11.22(chr7:69665251-70271848)x1	AUTS2, LOC108004522 +15 more	Copy number loss	See cases	GPathogenic
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 144927	GRCh38/hg38 7q11.22(chr7:69828711-70038445)x1	AUTS2, LOC110121181 +4 more	Copy number loss	See cases	GPathogenic
Select item 60238	GRCh38/hg38 7q11.22(chr7:69832264-69865810)x1	AUTS2, LOC110121297 +2 more	Copy number loss	See cases	GPathogenic
Select item 144722	GRCh38/hg38 7q11.22(chr7:69865751-70055580)x1	AUTS2, LOC110121181 +1 more	Copy number loss	See cases	GPathogenic
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)	AUTS2-related condition +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)	Autism spectrum disorder due to AUTS2 deficiency +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

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