ClinVar for Gene (Select 26053) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3235780	NM_015570.4(AUTS2):c.3465dup (p.His1156fs)	AUTS2 (H1132fs +1 more)	Duplication (frameshift variant)	not provided	GUncertain significance
Select item 3235732	NM_015570.4(AUTS2):c.3097C>T (p.Pro1033Ser)	AUTS2 (P1009S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 3132370	NM_015570.4(AUTS2):c.3724G>A (p.Ala1242Thr)	AUTS2 (A1242T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3132369	NM_015570.4(AUTS2):c.3688C>T (p.Arg1230Cys)	AUTS2 (R1230C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3132368	NM_015570.4(AUTS2):c.3439G>A (p.Gly1147Ser)	AUTS2 (G1147S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3132366	NM_015570.4(AUTS2):c.3430G>A (p.Glu1144Lys)	AUTS2 (E1144K +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3132365	NM_015570.4(AUTS2):c.2936A>T (p.Glu979Val)	AUTS2 (E979V +1 more)	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 3132362	NM_015570.4(AUTS2):c.2371G>A (p.Glu791Lys)	AUTS2 (E767K +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3132361	NM_015570.4(AUTS2):c.218del (p.Pro73fs)	AUTS2 (P73fs)	Deletion (frameshift variant)	Inborn genetic diseases	GPathogenic
Select item 3132359	NM_015570.4(AUTS2):c.1094A>T (p.Gln365Leu)	AUTS2 (Q365L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3069109	NM_015570.4(AUTS2):c.1642C>T (p.His548Tyr)	AUTS2 (H548Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3069108	NC_000007.13:g.(70163607_70227855)_(70258493_?)dup	AUTS2	Duplication	not specified	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 3063858	NM_015570.4(AUTS2):c.2820G>A (p.Pro940=)	AUTS2	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
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 3062986	GRCh37/hg19 7q11.21-11.23(chr7:66776724-74629034)x3	ABHD11, ABHD11-AS1 +35 more	Copy number gain	not specified	GPathogenic
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 3058736	NM_015570.4(AUTS2):c.2892G>A (p.Pro964=)	AUTS2	Single nucleotide variant (synonymous variant)	AUTS2-related disorder	GLikely benign
Select item 3058266	NM_015570.4(AUTS2):c.3384C>T (p.His1128=)	AUTS2	Single nucleotide variant (synonymous variant)	AUTS2-related disorder	GLikely benign
Select item 3058025	NM_015570.4(AUTS2):c.2406G>A (p.Ser802=)	AUTS2	Single nucleotide variant (synonymous variant)	AUTS2-related disorder	GLikely benign
Select item 3052884	NM_015570.4(AUTS2):c.2718C>A (p.Ala906=)	AUTS2	Single nucleotide variant (synonymous variant)	AUTS2-related disorder	GLikely benign
Select item 3050494	NM_015570.4(AUTS2):c.2767G>A (p.Gly923Ser)	AUTS2 (G899S +1 more)	Single nucleotide variant (missense variant)	AUTS2-related disorder	GUncertain significance
Select item 3049368	NM_015570.4(AUTS2):c.661-145267G>A	AUTS2 (V260I)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GLikely benign
Select item 3049205	NM_015570.4(AUTS2):c.1268C>G (p.Ser423Cys)	AUTS2 (S423C)	Single nucleotide variant (missense variant)	AUTS2-related disorder	GUncertain significance
Select item 3045132	NM_015570.4(AUTS2):c.1203C>A (p.Leu401=)	AUTS2	Single nucleotide variant (synonymous variant)	AUTS2-related disorder	GLikely benign
Select item 3044710	NM_015570.4(AUTS2):c.1290G>T (p.Pro430=)	AUTS2	Single nucleotide variant (synonymous variant)	AUTS2-related disorder	GLikely benign
Select item 3044514	NM_015570.4(AUTS2):c.2147-8C>T	AUTS2	Single nucleotide variant (intron variant)	AUTS2-related disorder	GLikely benign
Select item 3032538	NM_015570.4(AUTS2):c.661-145263A>G	AUTS2 (K261R)	Single nucleotide variant (missense variant +1 more)	AUTS2-related disorder	GLikely benign
Select item 3026750	NM_015570.4(AUTS2):c.2754G>C (p.Glu918Asp)	AUTS2 (E894D +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3026475	NM_015570.4(AUTS2):c.2728A>G (p.Lys910Glu)	AUTS2 (K886E +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3025415	NM_015570.4(AUTS2):c.2420C>T (p.Pro807Leu)	AUTS2 (P783L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 3023867	NM_015570.4(AUTS2):c.1060C>T (p.Pro354Ser)	AUTS2 (P354S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3023228	NM_015570.4(AUTS2):c.742+7C>G	AUTS2	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 3021125	NM_015570.4(AUTS2):c.2143G>A (p.Ala715Thr)	AUTS2 (A715T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3019173	NM_015570.4(AUTS2):c.1031G>A (p.Gly344Asp)	AUTS2 (G344D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3014544	NM_015570.4(AUTS2):c.1783C>T (p.Pro595Ser)	AUTS2 (P595S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3013740	NM_015570.4(AUTS2):c.2286G>A (p.Gly762=)	AUTS2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3011234	NM_015570.4(AUTS2):c.1215-16T>C	AUTS2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3009995	NM_015570.4(AUTS2):c.2145T>C (p.Ala715=)	AUTS2	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 3009952	NM_015570.4(AUTS2):c.1932+14T>C	AUTS2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3008758	NM_015570.4(AUTS2):c.2449C>T (p.Arg817Cys)	AUTS2 (R793C +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3008509	NM_015570.4(AUTS2):c.2083C>G (p.Leu695Val)	AUTS2 (L671V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3000505	NM_015570.4(AUTS2):c.2931C>G (p.Ser977Arg)	AUTS2 (S953R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2995870	NM_015570.4(AUTS2):c.454C>A (p.Arg152=)	AUTS2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2988010	NM_015570.4(AUTS2):c.1215-12T>C	AUTS2	Single nucleotide variant (intron variant)	not provided	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 2987113	NM_015570.4(AUTS2):c.2990C>G (p.Pro997Arg)	AUTS2 (P973R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2985126	NM_015570.4(AUTS2):c.309+20C>T	AUTS2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2984303	NM_015570.4(AUTS2):c.1448C>T (p.Pro483Leu)	AUTS2 (P483L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2982838	NM_015570.4(AUTS2):c.1650C>T (p.Ile550=)	AUTS2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2979942	NM_015570.4(AUTS2):c.1089G>T (p.Arg363Ser)	AUTS2 (R363S)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2976600	NM_015570.4(AUTS2):c.2308+19T>C	AUTS2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2975618	NM_015570.4(AUTS2):c.3009G>A (p.Ser1003=)	AUTS2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2973773	NM_015570.4(AUTS2):c.483C>T (p.His161=)	AUTS2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2968710	NM_015570.4(AUTS2):c.3434G>C (p.Arg1145Pro)	AUTS2 (R1121P +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2967646	NM_015570.4(AUTS2):c.1690-5T>C	AUTS2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2967524	NM_015570.4(AUTS2):c.522+17T>C	AUTS2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2965737	NM_015570.4(AUTS2):c.3418C>T (p.Arg1140Trp)	AUTS2 (R1116W +1 more)	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 2964251	NM_015570.4(AUTS2):c.3705A>G (p.Arg1235=)	AUTS2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2961305	NM_015570.4(AUTS2):c.3615C>T (p.Asn1205=)	AUTS2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2955342	NM_015570.4(AUTS2):c.3312C>T (p.Leu1104=)	AUTS2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2955181	NM_015570.4(AUTS2):c.1944G>C (p.Lys648Asn)	AUTS2 (K624N +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2920227	NM_015570.4(AUTS2):c.2541C>T (p.Val847=)	AUTS2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2918962	NM_015570.4(AUTS2):c.2346T>C (p.Ser782=)	AUTS2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2918685	NM_015570.4(AUTS2):c.2789G>A (p.Gly930Asp)	AUTS2 (G906D +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2916007	NM_015570.4(AUTS2):c.852T>C (p.Cys284=)	AUTS2	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 2915121	NM_015570.4(AUTS2):c.3018G>A (p.Pro1006=)	AUTS2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2912458	NM_015570.4(AUTS2):c.2886C>T (p.Ala962=)	AUTS2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2911187	NM_015570.4(AUTS2):c.703A>G (p.Ser235Gly)	AUTS2 (S235G)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2909663	NM_015570.4(AUTS2):c.2411C>T (p.Pro804Leu)	AUTS2 (P780L +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2909225	NM_015570.4(AUTS2):c.1342C>T (p.Leu448Phe)	AUTS2 (L448F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2905895	NM_015570.4(AUTS2):c.219G>C (p.Pro73=)	AUTS2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2904115	NM_015570.4(AUTS2):c.2109T>G (p.His703Gln)	AUTS2 (H679Q +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2903886	NM_015570.4(AUTS2):c.1106A>C (p.Gln369Pro)	AUTS2 (Q369P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2903078	NM_015570.4(AUTS2):c.1638C>T (p.Phe546=)	AUTS2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2899731	NM_015570.4(AUTS2):c.2326G>A (p.Gly776Ser)	AUTS2 (G752S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2899390	NM_015570.4(AUTS2):c.1645G>A (p.Ala549Thr)	AUTS2 (A549T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2897744	NM_015570.4(AUTS2):c.2787G>A (p.Ala929=)	AUTS2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2896191	NM_015570.4(AUTS2):c.1674G>A (p.Thr558=)	AUTS2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2895211	NM_015570.4(AUTS2):c.3599C>T (p.Thr1200Ile)	AUTS2 (T1176I +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2894776	NM_015570.4(AUTS2):c.2841G>A (p.Pro947=)	AUTS2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2894635	NM_015570.4(AUTS2):c.318A>G (p.Val106=)	AUTS2	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 2892041	NM_015570.4(AUTS2):c.3436G>A (p.Gly1146Arg)	AUTS2 (G1146R +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2891863	NM_015570.4(AUTS2):c.2146+7G>A	AUTS2	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2890703	NM_015570.4(AUTS2):c.1554C>T (p.Pro518=)	AUTS2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2890492	NM_015570.4(AUTS2):c.1941G>C (p.Gly647=)	AUTS2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2886738	NM_015570.4(AUTS2):c.625-20G>A	AUTS2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2883614	NM_015570.4(AUTS2):c.2595C>T (p.Ala865=)	AUTS2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2883541	NM_015570.4(AUTS2):c.2833C>T (p.Arg945Trp)	AUTS2 (R921W +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2880028	NM_015570.4(AUTS2):c.3398A>C (p.His1133Pro)	AUTS2 (H1133P +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
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 2867686	NM_015570.4(AUTS2):c.1969G>A (p.Ala657Thr)	AUTS2 (A657T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

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