TRANK1[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 57397	GRCh38/hg38 3p26.3-22.2(chr3:52266-37148076)x3	LOC129936421, LOC129936422 +962 more	Copy number gain	See cases	GPathogenic
Select item 153415	GRCh38/hg38 3p26.3-22.1(chr3:53308-41381521)x3	ACAA1, ACVR2B +1111 more	Copy number gain	See cases	GPathogenic
Select item 57978	GRCh38/hg38 3p25.3-22.2(chr3:11463328-38919543)x3	LOC132088948, LOC132088950 +730 more	Copy number gain	See cases	GPathogenic
Select item 57770	GRCh38/hg38 3p22.3-22.2(chr3:33062199-36829440)x1	ARPP21, ARPP21-AS1 +54 more	Copy number loss	See cases	GPathogenic
Select item 145586	GRCh38/hg38 3p22.3-22.1(chr3:33728406-40662451)x3	ACAA1, ACVR2B +176 more	Copy number gain	See cases	GPathogenic
Select item 3181914	NM_001329998.2(TRANK1):c.8890G>C (p.Gly2964Arg)	TRANK1 (G2964R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2614891	NM_001329998.2(TRANK1):c.8881C>G (p.Arg2961Gly)	TRANK1 (R2961G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 154796	GRCh38/hg38 3p22.2(chr3:36828515-37007227)x1	EPM2AIP1, LOC115995508 +17 more	Copy number loss	See cases	GPathogenic
Select item 2281075	NM_001329998.2(TRANK1):c.8803A>G (p.Lys2935Glu)	TRANK1 (K2891E +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2288246	NM_001329998.2(TRANK1):c.8762A>C (p.Asp2921Ala)	TRANK1 (D2877A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2561755	NM_001329998.2(TRANK1):c.8748C>G (p.Ile2916Met)	TRANK1 (I2916M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3181913	NM_001329998.2(TRANK1):c.8737A>C (p.Asn2913His)	TRANK1 (N2869H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2354879	NM_001329998.2(TRANK1):c.8533G>T (p.Val2845Leu)	TRANK1 (V2801L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2358341	NM_001329998.2(TRANK1):c.8527G>A (p.Glu2843Lys)	TRANK1 (E2799K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3328491	NM_001329998.2(TRANK1):c.8459A>G (p.Gln2820Arg)	TRANK1 (Q2820R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2476809	NM_001329998.2(TRANK1):c.8445C>G (p.Ser2815Arg)	TRANK1 (S2771R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2346407	NM_001329998.2(TRANK1):c.8333G>A (p.Arg2778His)	TRANK1 (R2778H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3181911	NM_001329998.2(TRANK1):c.8255G>C (p.Arg2752Thr)	TRANK1 (R2708T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2213108	NM_001329998.2(TRANK1):c.8195T>C (p.Leu2732Pro)	TRANK1 (L2732P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3181909	NM_001329998.2(TRANK1):c.8162G>A (p.Arg2721Gln)	TRANK1 (R2677Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2226295	NM_001329998.2(TRANK1):c.8158C>A (p.Gln2720Lys)	TRANK1 (Q2676K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2226294	NM_001329998.2(TRANK1):c.8157A>G (p.Ile2719Met)	TRANK1 (I2675M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2603832	NM_001329998.2(TRANK1):c.8032C>G (p.Pro2678Ala)	TRANK1 (P2634A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2492407	NM_001329998.2(TRANK1):c.8014C>T (p.Arg2672Cys)	TRANK1 (R2628C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3328487	NM_001329998.2(TRANK1):c.8002G>A (p.Val2668Ile)	TRANK1 (V2624I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2467023	NM_001329998.2(TRANK1):c.8001G>C (p.Glu2667Asp)	TRANK1 (E2623D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2382587	NM_001329998.2(TRANK1):c.7982G>A (p.Arg2661His)	TRANK1 (R2661H +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2241903	NM_001329998.2(TRANK1):c.7981C>T (p.Arg2661Cys)	TRANK1 (R2617C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2245886	NM_001329998.2(TRANK1):c.7975A>G (p.Ile2659Val)	TRANK1 (I2659V +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3181907	NM_001329998.2(TRANK1):c.7877C>G (p.Ser2626Cys)	TRANK1 (S2582C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2289027	NM_001329998.2(TRANK1):c.7861G>T (p.Ala2621Ser)	TRANK1 (A2577S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3181906	NM_001329998.2(TRANK1):c.7850G>A (p.Arg2617Gln)	TRANK1 (R2617Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3328480	NM_001329998.2(TRANK1):c.7825G>A (p.Glu2609Lys)	TRANK1 (E2609K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2514618	NM_001329998.2(TRANK1):c.7781C>T (p.Ser2594Leu)	TRANK1 (S2594L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3181904	NM_001329998.2(TRANK1):c.7760G>A (p.Arg2587His)	TRANK1 (R2543H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3328488	NM_001329998.2(TRANK1):c.7694T>C (p.Leu2565Pro)	TRANK1 (L2565P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2385934	NM_001329998.2(TRANK1):c.7682G>A (p.Arg2561Gln)	TRANK1 (R2561Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2346259	NM_001329998.2(TRANK1):c.7580C>G (p.Ser2527Cys)	TRANK1 (S2483C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2653656	NM_001329998.2(TRANK1):c.7569G>C (p.Arg2523=)	TRANK1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2373733	NM_001329998.2(TRANK1):c.7568G>A (p.Arg2523Gln)	TRANK1 (R2479Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2485145	NM_001329998.2(TRANK1):c.7522C>A (p.Gln2508Lys)	TRANK1 (Q2508K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2276951	NM_001329998.2(TRANK1):c.7471T>C (p.Phe2491Leu)	TRANK1 (F2491L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2410332	NM_001329998.2(TRANK1):c.7417A>C (p.Asn2473His)	TRANK1 (N2429H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3181902	NM_001329998.2(TRANK1):c.7361C>A (p.Ala2454Asp)	TRANK1 (A2454D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2295605	NM_001329998.2(TRANK1):c.7355C>T (p.Thr2452Ile)	TRANK1 (T2452I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2251603	NM_001329998.2(TRANK1):c.7302G>A (p.Met2434Ile)	TRANK1 (M2390I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2384052	NM_001329998.2(TRANK1):c.7255G>A (p.Val2419Met)	TRANK1 (V2375M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2207659	NM_001329998.2(TRANK1):c.7223G>A (p.Arg2408Gln)	TRANK1 (R2408Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2565282	NM_001329998.2(TRANK1):c.7222C>T (p.Arg2408Trp)	TRANK1 (R2364W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2256805	NM_001329998.2(TRANK1):c.7197G>A (p.Met2399Ile)	TRANK1 (M2355I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2338358	NM_001329998.2(TRANK1):c.7129G>A (p.Gly2377Ser)	TRANK1 (G2333S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2303429	NM_001329998.2(TRANK1):c.7122G>C (p.Arg2374Ser)	TRANK1 (R2330S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3181901	NM_001329998.2(TRANK1):c.7031C>T (p.Pro2344Leu)	TRANK1 (P2300L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3181899	NM_001329998.2(TRANK1):c.6962G>C (p.Arg2321Pro)	TRANK1 (R2321P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2461374	NM_001329998.2(TRANK1):c.6961C>T (p.Arg2321Cys)	TRANK1 (R2277C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2309227	NM_001329998.2(TRANK1):c.6958G>T (p.Ala2320Ser)	TRANK1 (A2276S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2606270	NM_001329998.2(TRANK1):c.6935A>T (p.His2312Leu)	TRANK1 (H2268L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2407031	NM_001329998.2(TRANK1):c.6902G>A (p.Arg2301Gln)	TRANK1 (R2301Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3181898	NM_001329998.2(TRANK1):c.6901C>T (p.Arg2301Trp)	TRANK1 (R2301W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3024774	NM_001329998.2(TRANK1):c.6789C>G (p.Gly2263=)	TRANK1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2459030	NM_001329998.2(TRANK1):c.6782T>C (p.Met2261Thr)	TRANK1 (M2261T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2589813	NM_001329998.2(TRANK1):c.6764A>G (p.Tyr2255Cys)	TRANK1 (Y2255C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2522772	NM_001329998.2(TRANK1):c.6697G>A (p.Gly2233Arg)	TRANK1 (G2233R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2490175	NM_001329998.2(TRANK1):c.6671C>T (p.Ser2224Leu)	TRANK1 (S2180L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2619790	NM_001329998.2(TRANK1):c.6643C>T (p.Arg2215Cys)	TRANK1 (R2171C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3328476	NM_001329998.2(TRANK1):c.6640C>T (p.Arg2214Trp)	TRANK1 (R2214W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2346537	NM_001329998.2(TRANK1):c.6583T>G (p.Phe2195Val)	TRANK1 (F2151V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3328486	NM_001329998.2(TRANK1):c.6541C>T (p.Arg2181Trp)	TRANK1 (R2137W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2588232	NM_001329998.2(TRANK1):c.6500C>A (p.Ala2167Asp)	TRANK1 (A2167D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2570364	NM_001329998.2(TRANK1):c.6475A>G (p.Ile2159Val)	TRANK1 (I2159V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 996671	NM_001329998.2(TRANK1):c.6458C>A (p.Thr2153Lys)	TRANK1 (T2109K +1 more)	Single nucleotide variant (missense variant)	Autism spectrum disorder	Gassociation
Select item 3181896	NM_001329998.2(TRANK1):c.6260G>T (p.Gly2087Val)	TRANK1 (G2087V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3328483	NM_001329998.2(TRANK1):c.6202G>A (p.Glu2068Lys)	TRANK1 (E2024K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2515424	NM_001329998.2(TRANK1):c.6164C>A (p.Thr2055Lys)	TRANK1 (T2055K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2369167	NM_001329998.2(TRANK1):c.6164C>T (p.Thr2055Met)	TRANK1 (T2055M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1335505	NM_001329998.2(TRANK1):c.6102C>T (p.Phe2034=)	TRANK1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2337140	NM_001329998.2(TRANK1):c.6089C>T (p.Ala2030Val)	TRANK1 (A1986V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2341708	NM_001329998.2(TRANK1):c.6073C>G (p.Gln2025Glu)	TRANK1 (Q1981E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3181895	NM_001329998.2(TRANK1):c.6004A>G (p.Arg2002Gly)	TRANK1 (R1958G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2316264	NM_001329998.2(TRANK1):c.5989C>T (p.Arg1997Cys)	TRANK1 (R1953C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2623256	NM_001329998.2(TRANK1):c.5950G>A (p.Asp1984Asn)	TRANK1 (D1984N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3328477	NM_001329998.2(TRANK1):c.5842C>T (p.Arg1948Cys)	TRANK1 (R1904C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3181894	NM_001329998.2(TRANK1):c.5837G>A (p.Arg1946Gln)	TRANK1 (R1946Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2321184	NM_001329998.2(TRANK1):c.5807T>A (p.Ile1936Lys)	TRANK1 (I1892K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2399329	NM_001329998.2(TRANK1):c.5795C>T (p.Ser1932Leu)	TRANK1 (S1888L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2347918	NM_001329998.2(TRANK1):c.5782A>G (p.Met1928Val)	TRANK1 (M1928V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2264126	NM_001329998.2(TRANK1):c.5743G>T (p.Ala1915Ser)	TRANK1 (A1871S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3181893	NM_001329998.2(TRANK1):c.5566G>A (p.Ala1856Thr)	TRANK1 (A1812T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3181892	NM_001329998.2(TRANK1):c.5554T>C (p.Cys1852Arg)	TRANK1 (C1852R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2371272	NM_001329998.2(TRANK1):c.5549G>A (p.Ser1850Asn)	TRANK1 (S1806N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3181891	NM_001329998.2(TRANK1):c.5546G>A (p.Arg1849Gln)	TRANK1 (R1805Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2545111	NM_001329998.2(TRANK1):c.5443A>G (p.Thr1815Ala)	TRANK1 (T1815A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2338563	NM_001329998.2(TRANK1):c.5347A>G (p.Thr1783Ala)	TRANK1 (T1783A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3328481	NM_001329998.2(TRANK1):c.5249G>C (p.Gly1750Ala)	TRANK1 (G1750A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2323677	NM_001329998.2(TRANK1):c.5243C>T (p.Ala1748Val)	TRANK1 (A1748V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2302479	NM_001329998.2(TRANK1):c.5125G>T (p.Ala1709Ser)	TRANK1 (A1665S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2471796	NM_001329998.2(TRANK1):c.5044G>A (p.Gly1682Arg)	TRANK1 (G1682R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2248330	NM_001329998.2(TRANK1):c.5003G>A (p.Arg1668Gln)	TRANK1 (R1624Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3181889	NM_001329998.2(TRANK1):c.4930T>A (p.Ser1644Thr)	TRANK1 (S1600T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2225299	NM_001329998.2(TRANK1):c.4877C>T (p.Thr1626Ile)	TRANK1 (T1626I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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