ClinVar for MedGen (Select 862872) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 3062145	NM_015570.4(AUTS2):c.3050G>A (p.Gly1017Glu)	AUTS2 (G1017E +1 more)	Single nucleotide variant (missense variant)	Autism spectrum disorder due to AUTS2 deficiency	Gnot provided
Select item 3024247	NM_015570.4(AUTS2):c.1902+1G>A	AUTS2	Single nucleotide variant (splice donor variant +1 more)	Autism spectrum disorder due to AUTS2 deficiency	GPathogenic
Select item 2683904	NM_015570.4(AUTS2):c.2481_2484dup (p.Asp829Ter)	AUTS2 (D805* +1 more)	Duplication (nonsense)	Autism spectrum disorder due to AUTS2 deficiency	GLikely pathogenic
Select item 2627571	NM_015570.4(AUTS2):c.1617C>A (p.His539Gln)	AUTS2 (H539Q)	Single nucleotide variant (missense variant)	Autism spectrum disorder due to AUTS2 deficiency	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 2580929	NM_015057.5(MYCBP2):c.5125G>C (p.Gly1709Arg)	MYCBP2 (G1709R)	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 2578436	NM_015570.4(AUTS2):c.1557C>A (p.Tyr519Ter)	AUTS2 (Y519*)	Single nucleotide variant (nonsense)	Autism spectrum disorder due to AUTS2 deficiency	GLikely pathogenic
Select item 2573135	NM_015570.4(AUTS2):c.742_742+3del	AUTS2	Deletion (splice donor variant)	Autism spectrum disorder due to AUTS2 deficiency	GPathogenic
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 2499620	NM_015570.4(AUTS2):c.2224+1G>T	AUTS2	Single nucleotide variant (splice donor variant)	Autism spectrum disorder due to AUTS2 deficiency	GLikely pathogenic
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 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 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
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 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 2439431	NM_015570.4(AUTS2):c.1276C>G (p.Pro426Ala)	AUTS2 (P426A)	Single nucleotide variant (missense variant)	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 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 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 2431782	NM_015570.4(AUTS2):c.3518C>T (p.Ala1173Val)	AUTS2 (A1149V +1 more)	Single nucleotide variant (missense variant)	Autism spectrum disorder due to AUTS2 deficiency	GUncertain significance
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 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 2429100	NM_015570.4(AUTS2):c.2005-1G>C	AUTS2	Single nucleotide variant (splice acceptor variant)	Autism spectrum disorder due to AUTS2 deficiency	GLikely pathogenic
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 2163168	NM_015570.4(AUTS2):c.2369A>C (p.His790Pro)	AUTS2 (H766P +1 more)	Single nucleotide variant (missense variant)	Autism spectrum disorder due to AUTS2 deficiency +1 more	GUncertain significance
Select item 2156258	NM_015570.4(AUTS2):c.1354G>A (p.Ala452Thr)	AUTS2 (A452T)	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 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 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 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 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 1805686	NM_015570.4(AUTS2):c.2153C>T (p.Ala718Val)	AUTS2 (A694V +1 more)	Single nucleotide variant (missense variant)	Autism spectrum disorder due to AUTS2 deficiency	GUncertain significance
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 1804905	NM_015570.4(AUTS2):c.2609G>A (p.Arg870His)	AUTS2 (R846H +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1803783	NM_015570.4(AUTS2):c.1531G>A (p.Gly511Arg)	AUTS2 (G511R)	Single nucleotide variant (missense variant)	Autism spectrum disorder due to AUTS2 deficiency +1 more	GConflicting classifications of pathogenicity
Select item 1710136	NM_015570.4(AUTS2):c.1647dup (p.Ile550fs)	AUTS2 (I550fs)	Duplication (frameshift variant)	Autism spectrum disorder due to AUTS2 deficiency	GLikely pathogenic
Select item 1709046	NM_015570.4(AUTS2):c.641G>T (p.Ser214Ile)	AUTS2 (S214I)	Single nucleotide variant (missense variant)	Autism spectrum disorder due to AUTS2 deficiency	GLikely benign
Select item 1708260	NM_015570.4(AUTS2):c.2218del (p.His740fs)	AUTS2 (H716fs +1 more)	Deletion (frameshift variant)	Autism spectrum disorder due to AUTS2 deficiency	GPathogenic
Select item 1705357	NM_015570.4(AUTS2):c.2531+1_2531+10del	AUTS2	Deletion (splice donor variant)	Autism spectrum disorder due to AUTS2 deficiency	GUncertain significance
Select item 1698979	NM_015570.4(AUTS2):c.1771C>T (p.Pro591Ser)	AUTS2 (P591S)	Single nucleotide variant (missense variant)	Autism spectrum disorder due to AUTS2 deficiency	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 1696667	NM_015570.4(AUTS2):c.3008C>T (p.Ser1003Leu)	AUTS2 (S1003L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
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 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 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 1334416	NM_015570.4(AUTS2):c.1995_1996del (p.Lys666fs)	AUTS2 (K642fs +1 more)	Deletion (frameshift variant)	Autism spectrum disorder due to AUTS2 deficiency	GPathogenic
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)	not provided +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 1299231	NM_015570.4(AUTS2):c.2587G>T (p.Val863Leu)	AUTS2 (V839L +1 more)	Single nucleotide variant (missense variant)	Autism spectrum disorder due to AUTS2 deficiency	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 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 1184289	NM_015570.4(AUTS2):c.1132G>C (p.Val378Leu)	AUTS2 (V378L)	Single nucleotide variant (missense variant)	Autism spectrum disorder due to AUTS2 deficiency +1 more	GUncertain significance
Select item 1174872	NM_015570.4(AUTS2):c.3377ACC[7] (p.His1133del)	AUTS2 (H1109del +1 more)	Microsatellite (inframe_deletion)	AUTS2-related condition +2 more	GBenign/Likely benign
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 1164019	NM_015570.4(AUTS2):c.1611C>A (p.His537Gln)	AUTS2 (H537Q)	Single nucleotide variant (missense variant)	Autism spectrum disorder due to AUTS2 deficiency	GLikely pathogenic
Select item 1098602	NM_015570.4(AUTS2):c.1852G>A (p.Ala618Thr)	AUTS2 (A618T)	Single nucleotide variant (missense variant +1 more)	Autism spectrum disorder due to AUTS2 deficiency +1 more	GUncertain significance
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 1030520	NM_015570.4(AUTS2):c.1766G>C (p.Gly589Ala)	AUTS2 (G589A)	Single nucleotide variant (missense variant)	not provided +1 more	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 1027646	NM_015570.4(AUTS2):c.1906A>G (p.Thr636Ala)	AUTS2 (T612A +1 more)	Single nucleotide variant (missense variant)	Autism spectrum disorder due to AUTS2 deficiency	GUncertain significance
Select item 996089	NM_015570.4(AUTS2):c.1727G>A (p.Arg576Gln)	AUTS2 (R576Q)	Single nucleotide variant (missense variant)	Autism spectrum disorder due to AUTS2 deficiency +1 more	GUncertain significance
Select item 988722	NM_015570.4(AUTS2):c.1775del (p.Pro592fs)	AUTS2 (P592fs)	Deletion (frameshift variant)	Autism spectrum disorder due to AUTS2 deficiency	GLikely pathogenic
Select item 984610	NM_015570.4(AUTS2):c.1603_1626del (p.531HQHT[1])	AUTS2	Deletion (inframe_deletion)	See cases +3 more	GConflicting classifications of pathogenicity
Select item 982997	NM_015570.4(AUTS2):c.916A>G (p.Ile306Val)	AUTS2 (I306V)	Single nucleotide variant (missense variant)	Autism spectrum disorder due to AUTS2 deficiency	GUncertain significance
Select item 982824	NM_015570.4(AUTS2):c.2215G>A (p.Ala739Thr)	AUTS2 (A715T +1 more)	Single nucleotide variant (missense variant)	Autism spectrum disorder due to AUTS2 deficiency	GLikely benign
Select item 982730	NM_015570.4(AUTS2):c.1193G>C (p.Ser398Thr)	AUTS2 (S398T)	Single nucleotide variant (missense variant)	Autism spectrum disorder due to AUTS2 deficiency	GLikely benign
Select item 981243	Single allele	AUTS2	Deletion	Autism spectrum disorder due to AUTS2 deficiency	GPathogenic
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 930612	NM_015570.4(AUTS2):c.3707G>A (p.Arg1236Lys)	AUTS2 (R1236K +1 more)	Single nucleotide variant (missense variant)	Autism spectrum disorder due to AUTS2 deficiency +1 more	GUncertain significance
Select item 872753	NM_015570.4(AUTS2):c.3416C>T (p.Pro1139Leu)	AUTS2 (P1115L +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 870583	NM_015570.4(AUTS2):c.1534dup (p.Ala512fs)	AUTS2 (A512fs)	Duplication (frameshift variant)	Autism spectrum disorder due to AUTS2 deficiency	GPathogenic
Select item 827791	NM_015570.4(AUTS2):c.784C>T (p.Gln262Ter)	AUTS2 (Q262*)	Single nucleotide variant (nonsense)	Autism spectrum disorder due to AUTS2 deficiency	GLikely pathogenic
Select item 807382	NM_015570.4(AUTS2):c.1604A>C (p.His535Pro)	AUTS2 (H535P)	Single nucleotide variant (missense variant)	Autism spectrum disorder due to AUTS2 deficiency	GLikely pathogenic
Select item 807381	NM_015570.4(AUTS2):c.1547dup (p.Pro517fs)	AUTS2 (P517fs)	Duplication (frameshift variant)	Autism spectrum disorder due to AUTS2 deficiency	GPathogenic
Select item 802324	NM_015570.4(AUTS2):c.1882_1883del (p.Leu628fs)	AUTS2 (L628fs)	Deletion (frameshift variant +1 more)	Autism spectrum disorder due to AUTS2 deficiency	GPathogenic
Select item 707556	NM_015570.4(AUTS2):c.2397G>A (p.Thr799=)	AUTS2	Single nucleotide variant (synonymous variant)	Autism spectrum disorder due to AUTS2 deficiency +1 more	GBenign/Likely benign
Select item 705435	NM_015570.4(AUTS2):c.1464C>T (p.Tyr488=)	AUTS2	Single nucleotide variant (synonymous variant)	Autism spectrum disorder due to AUTS2 deficiency +1 more	GBenign/Likely benign
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

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