AGO3[gene] - ClinVar

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Items: 58

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 149963	GRCh38/hg38 1p36.11-34.2(chr1:24381206-41401517)x3	LINC02811, LITATS1 +1147 more	Copy number gain	See cases	GPathogenic
Select item 2672311	Single allele	A3GALT2, ACOT11 +1226 more	Inversion	Bilateral polymicrogyria	GLikely pathogenic
Select item 148904	GRCh38/hg38 1p34.3(chr1:34753938-36055310)x1	AGO1, AGO3 +70 more	Copy number loss	See cases	GLikely pathogenic
Select item 149964	GRCh38/hg38 1p34.3(chr1:35934217-36821999)x4	ADPRS, AGO3 +50 more	Copy number gain	See cases	GLikely pathogenic
Select item 2307840	NM_024852.4(AGO3):c.36G>C (p.Gln12His)	AGO3 (Q12H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2361230	NM_024852.4(AGO3):c.287A>G (p.Asn96Ser)	AGO3 (N96S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2238683	NM_024852.4(AGO3):c.298G>A (p.Val100Met)	AGO3 (V100M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3096271	NM_024852.4(AGO3):c.391G>T (p.Val131Leu)	AGO3 (V131L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 746665	NM_024852.4(AGO3):c.429G>C (p.Arg143=)	AGO3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 796872	NM_024852.4(AGO3):c.435G>A (p.Leu145=)	AGO3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2260400	NM_024852.4(AGO3):c.439G>A (p.Glu147Lys)	AGO3 (E147K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 723872	NM_024852.4(AGO3):c.510G>A (p.Leu170=)	AGO3	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 3042460	NM_024852.4(AGO3):c.573C>T (p.His191=)	AGO3	Single nucleotide variant (synonymous variant +1 more)	AGO3-related disorder	GLikely benign
Select item 2241746	NM_024852.4(AGO3):c.622C>T (p.Arg208Trp)	AGO3 (R208W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 992322	NM_024852.4(AGO3):c.673T>C (p.Phe225Leu)	AGO3 (F225L)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 756922	NM_024852.4(AGO3):c.684A>G (p.Ala228=)	AGO3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 720219	NM_024852.4(AGO3):c.930G>A (p.Ala310=)	AGO3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3053137	NM_024852.4(AGO3):c.972G>A (p.Pro324=)	AGO3	Single nucleotide variant (synonymous variant)	AGO3-related disorder	GLikely benign
Select item 720252	NM_024852.4(AGO3):c.1002A>G (p.Glu334=)	AGO3	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2631343	NM_024852.4(AGO3):c.1013C>T (p.Thr338Ile)	AGO3 (T104I +1 more)	Single nucleotide variant (missense variant)	AGO3-related disorder	GUncertain significance
Select item 1686436	NM_024852.4(AGO3):c.1076A>G (p.Asp359Gly)	AGO3 (D125G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2261104	NM_024852.4(AGO3):c.1171A>G (p.Thr391Ala)	AGO3 (T157A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2551629	NM_024852.4(AGO3):c.1187A>G (p.Gln396Arg)	AGO3 (Q162R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 774393	NM_024852.4(AGO3):c.1209G>A (p.Arg403=)	AGO3	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 738685	NM_024852.4(AGO3):c.1257C>G (p.Leu419=)	AGO3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2628580	NM_024852.4(AGO3):c.1277G>A (p.Arg426Gln)	AGO3 (R192Q +1 more)	Single nucleotide variant (missense variant)	AGO3-related disorder	GUncertain significance
Select item 2553330	NM_024852.4(AGO3):c.1357G>T (p.Ala453Ser)	AGO3 (A219S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3096250	NM_024852.4(AGO3):c.1399A>G (p.Ile467Val)	AGO3 (I233V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2554369	NM_024852.4(AGO3):c.1427G>A (p.Arg476His)	AGO3 (R476H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1686437	NM_024852.4(AGO3):c.1475T>C (p.Phe492Ser)	AGO3 (F258S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 780766	NM_024852.4(AGO3):c.1572G>A (p.Pro524=)	AGO3	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 726237	NM_024852.4(AGO3):c.1660A>G (p.Ile554Val)	AGO3 (I554V +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2566102	NM_024852.4(AGO3):c.1738G>C (p.Val580Leu)	AGO3, LOC126805696 (V580L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 752985	NM_024852.4(AGO3):c.1751+10G>A	AGO3, LOC126805696	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2638660	NM_024852.4(AGO3):c.1773A>G (p.Pro591=)	AGO3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3040228	NM_024852.4(AGO3):c.1791C>T (p.Ala597=)	AGO3	Single nucleotide variant (synonymous variant)	AGO3-related disorder	GLikely benign
Select item 717673	NM_024852.4(AGO3):c.1803T>C (p.His601=)	AGO3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 790925	NM_024852.4(AGO3):c.1959A>G (p.Gln653=)	AGO3	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3039853	NM_024852.4(AGO3):c.2127G>A (p.Gln709=)	AGO3	Single nucleotide variant (synonymous variant)	AGO3-related disorder	GLikely benign
Select item 3096259	NM_024852.4(AGO3):c.2140A>T (p.Thr714Ser)	AGO3 (T480S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3052619	NM_024852.4(AGO3):c.2241C>T (p.Phe747=)	AGO3	Single nucleotide variant (synonymous variant)	AGO3-related disorder	GLikely benign
Select item 2617658	NM_024852.4(AGO3):c.2321G>C (p.Cys774Ser)	AGO3 (C774S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 780236	NM_024852.4(AGO3):c.2343G>A (p.Gln781=)	AGO3	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3276186	NM_024852.4(AGO3):c.2468A>G (p.His823Arg)	AGO3 (H589R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 755490	NM_024852.4(AGO3):c.2520A>G (p.Pro840=)	AGO3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 786461	NM_024852.4(AGO3):c.2577C>T (p.Phe859=)	AGO3	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1808707	GRCh37/hg19 1p34.3(chr1:35104233-37357913)x1	ADPRS, AGO1 +32 more	Copy number loss	not provided	GPathogenic
Select item 1526904	GRCh37/hg19 1p34.3(chr1:36041366-39112237)	ADPRS, AGO1 +37 more	Copy number loss	not specified	GUncertain significance
Select item 1526893	GRCh37/hg19 1p34.3(chr1:35950860-36635695)	ADPRS, AGO1 +12 more	Copy number gain	not specified	GUncertain significance
Select item 1526873	GRCh37/hg19 1p34.3(chr1:35950860-36465764)	AGO1, AGO3 +7 more	Copy number loss	not specified	GUncertain significance
Select item 1526762	GRCh37/hg19 1p35.1-33(chr1:33285582-47891811)	A3GALT2, ADPRS +202 more	Copy number gain	not specified	GPathogenic
Select item 687265	GRCh37/hg19 1p34.3(chr1:36496921-36829945)x3	ADPRS, AGO3 +8 more	Copy number gain	not provided	GUncertain significance
Select item 635767	GRCh37/hg19 1p36.22-21.1(chr1:103343285-103455144)x3	AGL, AGMAT +783 more	Copy number gain	Intellectual disability, mild +1 more	GUncertain significance
Select item 625764	GRCh37/hg19 1p35.1-34.3(chr1:32859415-36454915)	YARS1, ZBTB8A +41 more	Copy number loss	not provided	GPathogenic
Select item 584069	NC_000001.10:g.(?_33241563)_(46663513_?)dup	KCNQ4, KDM4A +179 more	Duplication	Charcot-Marie-Tooth disease dominant intermediate C	GUncertain significance
Select item 442387	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)	CD34, CD46 +2014 more	Copy number gain	See cases	GPathogenic
Select item 442386	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3	GPATCH2, GPATCH3 +2014 more	Copy number gain	See cases	GPathogenic
Select item 395434	GRCh37/hg19 1p34.3(chr1:34830287-36945093)x1	ADPRS, AGO1 +31 more	Copy number loss	See cases	GPathogenic

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Items: 58