Related gene-specific medical variations for Gene (Select 26053) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3245916	NC_000007.13:g.(?_70163535)_(70163626_?)dup	AUTS2	Duplication	not provided	GLikely pathogenic
Select item 3245915	NC_000007.13:g.(?_69064640)_(70255982_?)dup	AUTS2	Duplication	not provided	GUncertain significance
Select item 3245914	NC_000007.13:g.(?_70227836)_(70255982_?)del	AUTS2	Deletion	not provided	GPathogenic
Select item 3245913	NC_000007.13:g.(?_69364252)_(70163626_?)del	AUTS2	Deletion	not provided	GPathogenic
Select item 3245911	NC_000007.13:g.(?_69364252)_(69900787_?)del	AUTS2	Deletion	not provided	GPathogenic
Select item 3245910	NC_000007.13:g.(?_69364252)_(69583239_?)del	AUTS2	Deletion	not provided	GUncertain significance
Select item 3245909	NC_000007.13:g.(?_70246581)_(70255982_?)del	AUTS2	Deletion	not provided	GPathogenic
Select item 3245908	NC_000007.13:g.(?_69364252)_(69364504_?)del	AUTS2	Deletion	not provided	GUncertain significance
Select item 3064468	NM_015570.4(AUTS2):c.2877C>G (p.Ser959Arg)	AUTS2 (S935R +1 more)	Single nucleotide variant (missense variant)	Autism spectrum disorder due to AUTS2 deficiency	GUncertain significance
Select item 3062997	GRCh37/hg19 7q11.22(chr7:70189312-70533221)x3	AUTS2	Copy number gain	not specified	GUncertain significance
Select item 3062996	GRCh37/hg19 7q11.22(chr7:70188733-70533221)x3	AUTS2	Copy number gain	not specified	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 2893543	NM_015570.4(AUTS2):c.131G>A (p.Arg44Gln)	AUTS2, LOC129998550 (R44Q)	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 2806650	NM_015570.4(AUTS2):c.125G>A (p.Arg42Gln)	AUTS2, LOC129998550 (R42Q)	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 2704710	NM_015570.4(AUTS2):c.79C>T (p.Arg27Trp)	AUTS2, LOC129998550 (R27W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2685246	GRCh37/hg19 7q11.22(chr7:70123570-70236724)x1	AUTS2	Copy number loss	not provided	GLikely pathogenic
Select item 2685245	GRCh37/hg19 7q11.22(chr7:69697230-69978519)x1	AUTS2	Copy number loss	not provided	GLikely pathogenic
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 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 2582705	NM_015570.4(AUTS2):c.895T>C (p.Cys299Arg)	AUTS2 (C299R)	Single nucleotide variant (missense variant)	Autism spectrum disorder due to AUTS2 deficiency	GUncertain significance
Select item 2582604	NM_015570.4(AUTS2):c.743A>T (p.Asp248Val)	AUTS2 (D248V)	Single nucleotide variant (missense variant)	Autism spectrum disorder due to AUTS2 deficiency	GUncertain significance
Select item 2580927	NM_015570.4(AUTS2):c.3390_3401del (p.His1130_Pro1134delinsGln)	AUTS2	Deletion (inframe_indel)	Autism spectrum disorder due to AUTS2 deficiency	GUncertain significance
Select item 2576040	NM_015570.4(AUTS2):c.1924A>G (p.Met642Val)	AUTS2 (M618V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2572020	GRCh37/hg19 7q11.22(chr7:69848194-70190799)x1	AUTS2	Copy number loss	Autism spectrum disorder due to AUTS2 deficiency	Gnot provided
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 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 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 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 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 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 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 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 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 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 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 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 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 2439425	NM_015570.4(AUTS2):c.1527C>A (p.Asp509Glu)	AUTS2 (D509E)	Single nucleotide variant (missense variant)	Autism spectrum disorder due to AUTS2 deficiency	GUncertain significance
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 2430071	NM_015570.4(AUTS2):c.2887G>C (p.Glu963Gln)	AUTS2 (E939Q +1 more)	Single nucleotide variant (missense variant)	Autism spectrum disorder	GLikely benign
Select item 2430070	NM_015570.4(AUTS2):c.796_818del (p.Pro266fs)	AUTS2 (P266fs)	Deletion (frameshift variant)	Developmental disorder	GPathogenic
Select item 2429961	NM_015570.4(AUTS2):c.983_984del (p.Thr328fs)	AUTS2 (T328fs)	Microsatellite (frameshift variant)	Autism spectrum disorder	GLikely pathogenic
Select item 2429960	NM_015570.4(AUTS2):c.3062C>T (p.Ser1021Leu)	AUTS2 (S1021L +1 more)	Single nucleotide variant (missense variant)	Autism spectrum disorder	GLikely benign
Select item 2429959	NM_015570.4(AUTS2):c.2915A>T (p.Glu972Val)	AUTS2 (E948V +1 more)	Single nucleotide variant (missense variant)	Autism spectrum disorder	GUncertain significance
Select item 2429957	NM_015570.4(AUTS2):c.2309C>T (p.Thr770Ile)	AUTS2 (T746I +1 more)	Single nucleotide variant (missense variant)	Autism spectrum disorder	GLikely benign
Select item 2429956	NM_015570.4(AUTS2):c.1960G>A (p.Val654Ile)	AUTS2 (V630I +1 more)	Single nucleotide variant (missense variant)	Autism spectrum disorder	GLikely benign
Select item 2412924	NM_015570.4(AUTS2):c.96_119del (p.Ala34_Gly41del)	LOC129998550, AUTS2	Deletion (inframe_deletion)	not provided	GUncertain significance
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 2073845	NM_015570.4(AUTS2):c.68A>G (p.Glu23Gly)	AUTS2, LOC129998550 (E23G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1992384	NM_015570.4(AUTS2):c.2867G>A (p.Ser956Asn)	AUTS2 (S956N +1 more)	Single nucleotide variant (missense variant)	Autism spectrum disorder due to AUTS2 deficiency	GUncertain significance
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 1808180	GRCh37/hg19 7q11.22(chr7:69265676-69446764)x3	AUTS2	Copy number gain	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 1696745	NM_015570.4(AUTS2):c.624+2202A>G	AUTS2	Single nucleotide variant (intron variant)	Autism spectrum disorder due to AUTS2 deficiency	GUncertain significance
Select item 1696705	NM_015570.4(AUTS2):c.1712T>C (p.Val571Ala)	AUTS2 (V571A)	Single nucleotide variant (missense variant)	Autism spectrum disorder due to AUTS2 deficiency	GUncertain significance
Select item 1696655	NM_015570.4(AUTS2):c.1673C>T (p.Thr558Met)	AUTS2 (T558M)	Single nucleotide variant (missense variant)	Autism spectrum disorder due to AUTS2 deficiency	GUncertain significance
Select item 1696531	NM_015570.4(AUTS2):c.701C>T (p.Ala234Val)	AUTS2 (A234V)	Single nucleotide variant (missense variant)	Autism spectrum disorder due to AUTS2 deficiency	GUncertain significance
Select item 1676562	NM_015570.4(AUTS2):c.309+8G>A	AUTS2	Single nucleotide variant	not provided	GUncertain significance
Select item 1676434	NM_015570.4(AUTS2):c.3617G>A (p.Gly1206Glu)	AUTS2 (G1182E +1 more)	Single nucleotide variant	not provided	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 1527875	NM_015570.4(AUTS2):c.1913del (p.Pro638fs)	AUTS2 (P614fs +1 more)	Deletion (frameshift variant)	Autism spectrum disorder due to AUTS2 deficiency	GPathogenic
Select item 1527366	GRCh37/hg19 7q11.22(chr7:70189311-70533221)	AUTS2	Copy number gain	not specified	GUncertain significance
Select item 1527365	GRCh37/hg19 7q11.22(chr7:70140153-70420305)	AUTS2	Copy number gain	not specified	GUncertain significance
Select item 1527364	GRCh37/hg19 7q11.22(chr7:69527664-69647986)	AUTS2	Copy number loss	not specified	GPathogenic
Select item 1527363	GRCh37/hg19 7q11.22(chr7:69459746-70176827)	AUTS2	Copy number loss	not specified	GPathogenic
Select item 1527362	GRCh37/hg19 7q11.22(chr7:69325515-69644230)	AUTS2	Copy number loss	not specified	GPathogenic
Select item 1527360	GRCh37/hg19 7q11.22(chr7:69145364-70023881)	AUTS2	Copy number loss	not specified	GPathogenic
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 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 1341086	GRCh37/hg19 7q11.22(chr7:69649150-69707690)x1	AUTS2	Copy number loss	not provided	GUncertain significance
Select item 1340740	GRCh37/hg19 7q11.22(chr7:69248785-69292030)x1	AUTS2	Copy number loss	not provided	GUncertain significance
Select item 1340739	GRCh37/hg19 7q11.22(chr7:70189311-70529567)x3	AUTS2	Copy number gain	not provided	GUncertain significance
Select item 1340015	GRCh37/hg19 7q11.22(chr7:69296647-69358695)x1	AUTS2	Copy number loss	not provided	GUncertain significance
Select item 1330226	NM_015570.4(AUTS2):c.1468+5G>A	AUTS2	Single nucleotide variant (intron variant)	Autism spectrum disorder due to AUTS2 deficiency	GUncertain significance
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
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 1319752	NM_015570.4(AUTS2):c.1018C>T (p.Gln340Ter)	AUTS2 (Q340*)	Single nucleotide variant (nonsense)	Autism spectrum disorder due to AUTS2 deficiency +1 more	GPathogenic/Likely pathogenic
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 1226087	NM_015570.4(AUTS2):c.-740T>G	AUTS2, LOC129998549	Single nucleotide variant (5 prime UTR variant)	not provided	GBenign
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 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 1178526	NM_015570.4(AUTS2):c.1215-53C>T	AUTS2, LOC129998571	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1174090	NM_015570.4(AUTS2):c.691G>T (p.Ala231Ser)	AUTS2 (A231S)	Single nucleotide variant (missense variant)	Global developmental delay	GUncertain significance
Select item 997828	Single allele	AUTS2	Deletion	Intellectual disability	GPathogenic
Select item 981243	Single allele	AUTS2	Deletion	Autism spectrum disorder due to AUTS2 deficiency	GPathogenic
Select item 980828	GRCh37/hg19 7q11.22(chr7:69723512-69791423)x1	AUTS2	Copy number loss	not provided	GUncertain significance
Select item 980825	GRCh37/hg19 7q11.22(chr7:70033048-70217631)x1	AUTS2	Copy number loss	not provided	GPathogenic
Select item 975657	NM_015570.4(AUTS2):c.754G>C (p.Gly252Arg)	AUTS2 (G252R)	Single nucleotide variant (missense variant)	Intellectual disability	GLikely benign
Select item 931890	NM_015570.4(AUTS2):c.932C>G (p.Thr311Arg)	AUTS2 (T311R)	Single nucleotide variant (missense variant)	Autism spectrum disorder due to AUTS2 deficiency	GUncertain significance
Select item 931244	NM_015570.4(AUTS2):c.607C>T (p.Arg203Trp)	AUTS2 (R203W)	Single nucleotide variant (missense variant)	Autism spectrum disorder due to AUTS2 deficiency	GUncertain significance
Select item 930760	NM_015570.4(AUTS2):c.3632C>A (p.Thr1211Asn)	AUTS2 (T1187N +1 more)	Single nucleotide variant (missense variant)	Autism spectrum disorder due to AUTS2 deficiency	GUncertain significance
Select item 814988	GRCh37/hg19 7q11.22(chr7:70217657-70536916)x3	AUTS2	Copy number gain	not provided	GUncertain significance
Select item 814987	GRCh37/hg19 7q11.22(chr7:69951304-70051759)x1	AUTS2	Copy number loss	not provided	GUncertain significance
Select item 814986	GRCh37/hg19 7q11.22(chr7:69659882-69912722)x3	AUTS2	Copy number gain	not provided	GPathogenic
Select item 814985	GRCh37/hg19 7q11.22(chr7:69659502-69722764)x1	AUTS2	Copy number loss	not provided	GUncertain significance
Select item 814984	GRCh37/hg19 7q11.22(chr7:69532233-69644230)x1	AUTS2	Copy number loss	not provided	GPathogenic

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