TNRC6A[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 144327	GRCh38/hg38 16p13.3-11.2(chr16:4644892-29170820)x3	ABAT, ABCC1 +852 more	Copy number gain	See cases	GPathogenic
Select item 58085	GRCh38/hg38 16p13.11-12.1(chr16:14954894-28306843)x3	LOC125146428, LOC125146429 +400 more	Copy number gain	See cases	GPathogenic
Select item 151527	GRCh38/hg38 16p12.2-11.2(chr16:21350622-29202837)x3	APOBR, AQP8 +287 more	Copy number gain	See cases	GLikely pathogenic
Select item 58086	GRCh38/hg38 16p12.2-11.2(chr16:21463739-29249579)x3	LOC130058727, LOC130058728 +287 more	Copy number gain	See cases	GPathogenic
Select item 58734	GRCh38/hg38 16p12.2-12.1(chr16:21600992-28323344)x1	AQP8, ARHGAP17 +209 more	Copy number loss	See cases	GPathogenic
Select item 58099	GRCh38/hg38 16p12.2-11.2(chr16:21602183-29314373)x3	OTOA, PALB2 +280 more	Copy number gain	See cases	GPathogenic
Select item 146289	GRCh38/hg38 16p12.2-11.2(chr16:22634385-29227323)x3	APOBR, AQP8 +233 more	Copy number gain	See cases	GLikely pathogenic
Select item 58626	GRCh38/hg38 16p12.2-11.2(chr16:23047969-30632245)x3	DCTPP1, DOC2A +409 more	Copy number gain	See cases	GPathogenic
Select item 152605	GRCh38/hg38 16p12.2-11.2(chr16:23752047-31943755)x3	LOC130058732, LOC130058733 +504 more	Copy number gain	See cases	GPathogenic
Select item 3327728	NM_014494.4(TNRC6A):c.109G>A (p.Asp37Asn)	TNRC6A (D37N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1701693	NM_014494.4(TNRC6A):c.136AAG[1] (p.Lys47del)	TNRC6A (K47del +1 more)	Microsatellite (inframe_deletion)	Epilepsy, familial adult myoclonic, 6	GUncertain significance
Select item 2593222	NM_014494.4(TNRC6A):c.158T>C (p.Ile53Thr)	TNRC6A (I53T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2288893	NM_014494.4(TNRC6A):c.175A>T (p.Ile59Leu)	TNRC6A (I59L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2331938	NM_014494.4(TNRC6A):c.185G>C (p.Ser62Thr)	TNRC6A (S62T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3327730	NM_014494.4(TNRC6A):c.188T>G (p.Val63Gly)	TNRC6A (V72G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3180691	NM_014494.4(TNRC6A):c.219C>G (p.Asn73Lys)	TNRC6A (N82K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2646334	NM_014494.4(TNRC6A):c.285A>G (p.Pro95=)	TNRC6A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2490430	NM_014494.4(TNRC6A):c.320A>C (p.Gln107Pro)	TNRC6A (Q107P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 769896	NM_014494.4(TNRC6A):c.339_350del (p.113_114PQ[1])	TNRC6A	Deletion (inframe_deletion)	Epilepsy, familial adult myoclonic, 6 +1 more	GBenign
Select item 2364990	NM_014494.4(TNRC6A):c.391C>T (p.Arg131Trp)	TNRC6A (R131W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2395462	NM_014494.4(TNRC6A):c.406G>A (p.Val136Ile)	TNRC6A (V136I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 781725	NM_014494.4(TNRC6A):c.459G>A (p.Gln153=)	TNRC6A	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3327721	NM_014494.4(TNRC6A):c.554A>G (p.Asn185Ser)	TNRC6A (N194S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1279086	NM_014494.4(TNRC6A):c.555T>A (p.Asn185Lys)	TNRC6A (N185K +1 more)	Single nucleotide variant (missense variant)	Epilepsy, familial adult myoclonic, 6 +1 more	GBenign
Select item 3180705	NM_014494.4(TNRC6A):c.575G>A (p.Ser192Asn)	TNRC6A (S192N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2400433	NM_014494.4(TNRC6A):c.635G>A (p.Arg212Gln)	TNRC6A (R221Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2594167	NM_014494.4(TNRC6A):c.661T>A (p.Ser221Thr)	TNRC6A (S221T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2252094	NM_014494.4(TNRC6A):c.670A>G (p.Asn224Asp)	TNRC6A (N233D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3180708	NM_014494.4(TNRC6A):c.707A>G (p.Lys236Arg)	TNRC6A (K236R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2588205	NM_014494.4(TNRC6A):c.725C>T (p.Ala242Val)	TNRC6A (A242V +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3327729	NM_014494.4(TNRC6A):c.795G>C (p.Glu265Asp)	TNRC6A (E265D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2410804	NM_014494.4(TNRC6A):c.823A>G (p.Asn275Asp)	TNRC6A (N284D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3327720	NM_014494.4(TNRC6A):c.830G>A (p.Gly277Asp)	TNRC6A (G286D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2555414	NM_014494.4(TNRC6A):c.908A>C (p.Asn303Thr)	TNRC6A (N312T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2384335	NM_014494.4(TNRC6A):c.956C>A (p.Ala319Asp)	TNRC6A (A319D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2476546	NM_014494.4(TNRC6A):c.1010G>A (p.Ser337Asn)	TNRC6A (S337N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3327725	NM_014494.4(TNRC6A):c.1054T>C (p.Ser352Pro)	TNRC6A (S352P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3180681	NM_014494.4(TNRC6A):c.1100A>G (p.His367Arg)	TNRC6A (H376R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2589808	NM_014494.4(TNRC6A):c.1115T>C (p.Val372Ala)	TNRC6A (V372A +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 2473659	NM_014494.4(TNRC6A):c.1164T>G (p.Ser388Arg)	TNRC6A (S397R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1048916	NM_014494.4(TNRC6A):c.1182G>A (p.Gln394=)	TNRC6A	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 2617935	NM_014494.4(TNRC6A):c.1292T>A (p.Val431Glu)	TNRC6A (V431E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2603268	NM_014494.4(TNRC6A):c.1337T>C (p.Ile446Thr)	TNRC6A (I455T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3180682	NM_014494.4(TNRC6A):c.1380G>C (p.Met460Ile)	TNRC6A (M469I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2328824	NM_014494.4(TNRC6A):c.1430G>A (p.Ser477Asn)	TNRC6A (S486N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2406816	NM_014494.4(TNRC6A):c.1451G>A (p.Arg484His)	TNRC6A (R484H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2477314	NM_014494.4(TNRC6A):c.1460C>T (p.Thr487Ile)	TNRC6A (T487I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3180683	NM_014494.4(TNRC6A):c.1462A>G (p.Met488Val)	TNRC6A (M488V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3327719	NM_014494.4(TNRC6A):c.1466A>G (p.Asn489Ser)	TNRC6A (N489S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2390016	NM_014494.4(TNRC6A):c.1568G>T (p.Gly523Val)	TNRC6A (G523V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3180684	NM_014494.4(TNRC6A):c.1612A>G (p.Asn538Asp)	TNRC6A (N538D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2266656	NM_014494.4(TNRC6A):c.1658C>T (p.Pro553Leu)	TNRC6A (P562L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3180685	NM_014494.4(TNRC6A):c.1672C>T (p.Pro558Ser)	TNRC6A (P558S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 769897	NM_014494.4(TNRC6A):c.1675A>G (p.Met559Val)	TNRC6A (M559V +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3180686	NM_014494.4(TNRC6A):c.1708G>A (p.Gly570Arg)	TNRC6A (G579R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3025604	NM_014494.4(TNRC6A):c.1733C>T (p.Ala578Val)	TNRC6A (A578V +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 2462859	NM_014494.4(TNRC6A):c.1759G>A (p.Gly587Arg)	TNRC6A (G587R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2464489	NM_014494.4(TNRC6A):c.1763G>A (p.Ser588Asn)	TNRC6A (S597N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3327722	NM_014494.4(TNRC6A):c.1772G>A (p.Gly591Asp)	TNRC6A (G591D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1342237	NM_014494.4(TNRC6A):c.1774G>A (p.Ala592Thr)	TNRC6A (A592T +1 more)	Single nucleotide variant (missense variant)	Epilepsy, familial adult myoclonic, 6 +1 more	GBenign
Select item 3180687	NM_014494.4(TNRC6A):c.1793G>A (p.Arg598Gln)	TNRC6A (R607Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3180688	NM_014494.4(TNRC6A):c.1829C>G (p.Thr610Ser)	TNRC6A (T610S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2469735	NM_014494.4(TNRC6A):c.1832A>G (p.Asn611Ser)	TNRC6A (N611S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2288655	NM_014494.4(TNRC6A):c.1903A>G (p.Lys635Glu)	TNRC6A (K635E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2260837	NM_014494.4(TNRC6A):c.1915A>G (p.Asn639Asp)	TNRC6A (N648D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3327733	NM_014494.4(TNRC6A):c.1942G>A (p.Asp648Asn)	TNRC6A (D648N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3180689	NM_014494.4(TNRC6A):c.1951T>C (p.Ser651Pro)	TNRC6A (S651P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3180690	NM_014494.4(TNRC6A):c.1957A>G (p.Thr653Ala)	TNRC6A (T653A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2624162	NM_014494.4(TNRC6A):c.2009T>A (p.Val670Glu)	TNRC6A (V670E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1342238	NM_014494.4(TNRC6A):c.2016C>T (p.Ser672=)	TNRC6A	Single nucleotide variant (synonymous variant)	Epilepsy, familial adult myoclonic, 6 +1 more	GBenign
Select item 2621630	NM_014494.4(TNRC6A):c.2180C>G (p.Pro727Arg)	TNRC6A (P727R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2672624	NM_014494.4(TNRC6A):c.2241C>T (p.Asp747=)	TNRC6A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2384968	NM_014494.4(TNRC6A):c.2243A>G (p.Asn748Ser)	TNRC6A (N748S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3180692	NM_014494.4(TNRC6A):c.2353G>T (p.Asp785Tyr)	TNRC6A (D785Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2355491	NM_014494.4(TNRC6A):c.2353G>A (p.Asp785Asn)	TNRC6A (D785N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1342239	NM_014494.4(TNRC6A):c.2362C>T (p.Pro788Ser)	TNRC6A (P788S +1 more)	Single nucleotide variant (missense variant)	Epilepsy, familial adult myoclonic, 6 +1 more	GBenign
Select item 708973	NM_014494.4(TNRC6A):c.2403G>A (p.Gln801=)	TNRC6A	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2471335	NM_014494.4(TNRC6A):c.2405G>T (p.Gly802Val)	TNRC6A (G811V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2487003	NM_014494.4(TNRC6A):c.2435G>T (p.Gly812Val)	TNRC6A (G821V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2646335	NM_014494.4(TNRC6A):c.2464T>C (p.Cys822Arg)	TNRC6A (C822R +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2549672	NM_014494.4(TNRC6A):c.2482G>A (p.Ala828Thr)	TNRC6A (A837T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3327736	NM_014494.4(TNRC6A):c.2510A>G (p.Gln837Arg)	TNRC6A (Q846R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 781838	NM_014494.4(TNRC6A):c.2609A>G (p.Asn870Ser)	TNRC6A (N879S +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2478154	NM_014494.4(TNRC6A):c.2704A>G (p.Ile902Val)	TNRC6A (I911V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2456144	NM_014494.4(TNRC6A):c.2749A>G (p.Thr917Ala)	TNRC6A (T917A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2242978	NM_014494.4(TNRC6A):c.2766G>C (p.Trp922Cys)	TNRC6A (W931C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2220364	NM_014494.4(TNRC6A):c.2863T>C (p.Ser955Pro)	TNRC6A (S955P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3180693	NM_014494.4(TNRC6A):c.2906G>C (p.Gly969Ala)	TNRC6A (G969A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2646336	NM_014494.4(TNRC6A):c.2941GAA[2] (p.Glu983del)	TNRC6A (E983del +1 more)	Microsatellite (inframe_deletion +1 more)	not provided	GLikely benign
Select item 2524623	NM_014494.4(TNRC6A):c.2987G>A (p.Arg996His)	TNRC6A (R1005H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2346122	NM_014494.4(TNRC6A):c.2990G>A (p.Arg997His)	TNRC6A (R997H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 717234	NM_014494.4(TNRC6A):c.3009T>C (p.Asp1003=)	TNRC6A	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3180694	NM_014494.4(TNRC6A):c.3082A>G (p.Asn1028Asp)	TNRC6A (N1028D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2271724	NM_014494.4(TNRC6A):c.3090C>G (p.Asn1030Lys)	TNRC6A (N1030K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2220233	NM_014494.4(TNRC6A):c.3095G>A (p.Arg1032His)	TNRC6A (R1041H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3180695	NM_014494.4(TNRC6A):c.3131C>T (p.Thr1044Met)	TNRC6A (T1044M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2275953	NM_014494.4(TNRC6A):c.3146T>C (p.Ile1049Thr)	TNRC6A (I1049T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2325839	NM_014494.4(TNRC6A):c.3153C>G (p.Asn1051Lys)	TNRC6A (N1051K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3180697	NM_014494.4(TNRC6A):c.3182G>A (p.Gly1061Asp)	TNRC6A (G1061D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2233494	NM_014494.4(TNRC6A):c.3277G>A (p.Glu1093Lys)	TNRC6A (E1093K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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