ClinVar for Gene (Select 161176) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3172751	NM_152592.6(SYNE3):c.47C>T (p.Ala16Val)	SYNE3 (A16V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3172750	NM_152592.6(SYNE3):c.374T>C (p.Phe125Ser)	SYNE3 (F125S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3172749	NM_152592.6(SYNE3):c.2891C>T (p.Thr964Met)	SYNE3 (T959M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3172748	NM_152592.6(SYNE3):c.2882G>A (p.Arg961His)	SYNE3 (R956H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3172747	NM_152592.6(SYNE3):c.2855G>A (p.Ser952Asn)	SYNE3 (S947N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3172746	NM_152592.6(SYNE3):c.2638T>C (p.Tyr880His)	SYNE3 (Y880H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3172744	NM_152592.6(SYNE3):c.2504C>T (p.Ala835Val)	SYNE3 (A830V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3172743	NM_152592.6(SYNE3):c.2393A>G (p.Glu798Gly)	SYNE3 (E798G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3172742	NM_152592.6(SYNE3):c.2349G>A (p.Met783Ile)	LOC126862035, SYNE3 (M783I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3172741	NM_152592.6(SYNE3):c.2288C>T (p.Ser763Leu)	LOC126862035, SYNE3 (S763L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3172739	NM_152592.6(SYNE3):c.2171C>T (p.Ala724Val)	LOC126862035, SYNE3 (A724V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3172738	NM_152592.6(SYNE3):c.196C>T (p.Arg66Trp)	SYNE3 (R74W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3172736	NM_152592.6(SYNE3):c.179G>A (p.Arg60Lys)	SYNE3 (R68K +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3172735	NM_152592.6(SYNE3):c.1620A>C (p.Lys540Asn)	SYNE3 (K540N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3172733	NM_152592.6(SYNE3):c.1547C>T (p.Thr516Met)	SYNE3 (T516M)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3172732	NM_152592.6(SYNE3):c.152G>A (p.Cys51Tyr)	SYNE3 (C51Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3172731	NM_152592.6(SYNE3):c.1471C>T (p.Arg491Cys)	SYNE3 (R491C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3172730	NM_152592.6(SYNE3):c.1381C>G (p.Arg461Gly)	SYNE3 (R469G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3172728	NM_152592.6(SYNE3):c.1340G>A (p.Arg447Gln)	SYNE3 (R447Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3172727	NM_152592.6(SYNE3):c.116C>T (p.Ala39Val)	SYNE3 (A39V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3172725	NM_152592.6(SYNE3):c.1108G>A (p.Glu370Lys)	SYNE3 (E378K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2684743	GRCh37/hg19 14q31.3-32.33(chr14:88580184-107285437)x3	ADSS1, AHNAK2 +182 more	Copy number gain	not provided	GPathogenic
Select item 2684728	GRCh37/hg19 14q23.1-32.33(chr14:58894502-107227240)x3	ACOT4, ACOT6 +353 more	Copy number gain	not provided	GPathogenic
Select item 2644497	NM_152592.6(SYNE3):c.1119A>G (p.Ala373=)	SYNE3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2621194	NM_152592.6(SYNE3):c.1223A>G (p.Asn408Ser)	SYNE3 (N416S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2603179	NM_152592.6(SYNE3):c.14C>T (p.Pro5Leu)	SYNE3 (P13L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2602971	NM_152592.6(SYNE3):c.1376C>A (p.Ala459Asp)	SYNE3 (A467D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2592620	NM_152592.6(SYNE3):c.1787A>G (p.Glu596Gly)	SYNE3 (E596G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2590869	NM_152592.6(SYNE3):c.2060A>G (p.Glu687Gly)	SYNE3 (E687G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2588526	NM_152592.6(SYNE3):c.1827G>T (p.Arg609Ser)	SYNE3 (R609S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2569777	NM_152592.6(SYNE3):c.1118C>A (p.Ala373Glu)	SYNE3 (A381E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2569776	NM_152592.6(SYNE3):c.1117G>A (p.Ala373Thr)	SYNE3 (A373T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2568538	NM_152592.6(SYNE3):c.1796T>A (p.Leu599Gln)	SYNE3 (L599Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2555412	NM_152592.6(SYNE3):c.2622G>T (p.Glu874Asp)	SYNE3 (E869D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2552671	NM_152592.6(SYNE3):c.1950C>G (p.His650Gln)	SYNE3 (H650Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2549102	NM_152592.6(SYNE3):c.940G>A (p.Ala314Thr)	SYNE3 (A314T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2535452	NM_152592.6(SYNE3):c.1552C>T (p.Leu518Phe)	SYNE3 (L518F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2526705	NM_152592.6(SYNE3):c.863G>A (p.Arg288Gln)	SYNE3 (R288Q +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2524837	NM_152592.6(SYNE3):c.1181G>A (p.Arg394Gln)	SYNE3 (R402Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2523461	NM_152592.6(SYNE3):c.257G>A (p.Arg86Gln)	SYNE3 (R94Q +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2522120	NM_152592.6(SYNE3):c.631C>T (p.Arg211Cys)	SYNE3 (R211C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2520434	NM_152592.6(SYNE3):c.2260T>G (p.Trp754Gly)	LOC126862035, SYNE3 (W754G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2517406	NM_152592.6(SYNE3):c.1094C>T (p.Ala365Val)	SYNE3 (A373V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2514216	NM_152592.6(SYNE3):c.2173G>A (p.Val725Met)	LOC126862035, SYNE3 (V725M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2513619	NM_152592.6(SYNE3):c.2599C>T (p.Pro867Ser)	SYNE3 (P867S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2509303	NM_152592.6(SYNE3):c.1664C>T (p.Ala555Val)	SYNE3 (A555V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2489927	NM_152592.6(SYNE3):c.2065G>A (p.Glu689Lys)	SYNE3 (E689K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2472130	NM_152592.6(SYNE3):c.1464A>T (p.Glu488Asp)	SYNE3 (E488D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2468749	NM_152592.6(SYNE3):c.1930C>T (p.Arg644Trp)	SYNE3 (R644W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2464944	NM_152592.6(SYNE3):c.2711C>T (p.Pro904Leu)	SYNE3 (P904L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2458368	NM_152592.6(SYNE3):c.101A>G (p.Gln34Arg)	SYNE3 (Q34R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2458144	NM_152592.6(SYNE3):c.2093C>T (p.Pro698Leu)	SYNE3 (P698L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2457710	NM_152592.6(SYNE3):c.886G>A (p.Glu296Lys)	SYNE3 (E296K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2455499	NM_152592.6(SYNE3):c.2866G>T (p.Ala956Ser)	SYNE3 (A956S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2427518	NC_000014.8:g.(?_95080779)_(97347545_?)dup	PAPOLA, PAPOLA-DT +17 more	Duplication	not provided	GUncertain significance
Select item 2425566	NC_000014.8:g.(?_90429459)_(97347545_?)dup	SNHG10, TDP1 +66 more	Duplication	not provided	GUncertain significance
Select item 2407174	NM_152592.6(SYNE3):c.419T>A (p.Ile140Asn)	SYNE3 (I148N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2405739	NM_152592.6(SYNE3):c.2293A>C (p.Lys765Gln)	LOC126862035, SYNE3 (K765Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2392272	NM_152592.6(SYNE3):c.1633A>G (p.Ser545Gly)	SYNE3 (S545G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2389536	NM_152592.6(SYNE3):c.2710C>T (p.Pro904Ser)	SYNE3 (P899S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2386106	NM_152592.6(SYNE3):c.964C>T (p.Arg322Trp)	SYNE3 (R330W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2380929	NM_152592.6(SYNE3):c.1171C>T (p.Arg391Trp)	SYNE3 (R399W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2377445	NM_152592.6(SYNE3):c.2761C>T (p.Arg921Trp)	SYNE3 (R921W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2373403	NM_152592.6(SYNE3):c.379C>T (p.Arg127Cys)	SYNE3 (R127C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2372776	NM_152592.6(SYNE3):c.2551C>T (p.Arg851Trp)	SYNE3 (R846W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2363720	NM_152592.6(SYNE3):c.1180C>T (p.Arg394Trp)	SYNE3 (R394W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2362397	NM_152592.6(SYNE3):c.1556T>G (p.Leu519Arg)	SYNE3 (L519R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2359717	NM_152592.6(SYNE3):c.678G>C (p.Gln226His)	SYNE3 (Q234H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2349326	NM_152592.6(SYNE3):c.2023C>T (p.Arg675Trp)	SYNE3 (R675W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2346709	NM_152592.6(SYNE3):c.571G>A (p.Glu191Lys)	SYNE3 (E199K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2319374	NM_152592.6(SYNE3):c.1121A>G (p.His374Arg)	SYNE3 (H374R +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2318194	NM_152592.6(SYNE3):c.166G>A (p.Glu56Lys)	SYNE3 (E56K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2314883	NM_152592.6(SYNE3):c.55T>C (p.Trp19Arg)	SYNE3 (W19R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2293828	NM_152592.6(SYNE3):c.2180A>C (p.Gln727Pro)	LOC126862035, SYNE3 (Q727P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2280786	NM_152592.6(SYNE3):c.2572C>G (p.Leu858Val)	SYNE3 (L858V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2268444	NM_152592.6(SYNE3):c.1373T>G (p.Leu458Arg)	SYNE3 (L458R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2260160	NM_152592.6(SYNE3):c.1404C>G (p.Ser468Arg)	SYNE3 (S468R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2260111	NM_152592.6(SYNE3):c.1144C>T (p.Arg382Trp)	SYNE3 (R382W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2250651	NM_152592.6(SYNE3):c.142G>A (p.Glu48Lys)	SYNE3 (E56K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2247960	NM_152592.6(SYNE3):c.2200G>T (p.Ala734Ser)	LOC126862035, SYNE3 (A734S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2246405	NM_152592.6(SYNE3):c.124G>A (p.Ala42Thr)	SYNE3 (A42T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2228222	NM_152592.6(SYNE3):c.1862A>G (p.Lys621Arg)	SYNE3 (K621R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2224568	NM_152592.6(SYNE3):c.971G>A (p.Arg324Gln)	SYNE3 (R332Q +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2223375	NM_152592.6(SYNE3):c.746G>A (p.Arg249Gln)	SYNE3 (R257Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2217926	NM_152592.6(SYNE3):c.632G>A (p.Arg211His)	SYNE3 (R211H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2210022	NM_152592.6(SYNE3):c.773G>A (p.Arg258His)	SYNE3 (R258H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2204685	NM_152592.6(SYNE3):c.2369G>A (p.Arg790His)	LOC126862035, SYNE3 (R790H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1807775	GRCh37/hg19 14q31.2-32.33(chr14:84537502-107285437)x3	ADSS1, AHNAK2 +185 more	Copy number gain	not provided	GPathogenic
Select item 1807735	GRCh37/hg19 14q31.1-32.2(chr14:81593708-97059276)x3	OTUB2, PAPOLA +80 more	Copy number gain	not provided	GLikely pathogenic
Select item 1707441	GRCh37/hg19 14q13.3-32.33(chr14:37671058-106985955)x2	ABCD4, ABHD12B +447 more	Copy number gain	See cases	GPathogenic
Select item 1526436	GRCh37/hg19 14q32.13(chr14:95799729-95967597)	SYNE3	Copy number loss	not specified	GUncertain significance
Select item 1526434	GRCh37/hg19 14q32.12-32.13(chr14:94400492-96192218)	PPP4R4, SERPINA1 +24 more	Copy number gain	not specified	GUncertain significance
Select item 1340262	GRCh37/hg19 14q32.13-32.31(chr14:95871795-102457523)x1	AK7, ATG2B +56 more	Copy number loss	not provided	GPathogenic
Select item 980618	GRCh37/hg19 14q32.13(chr14:95782428-95967597)x1	CLMN, SYNE3	Copy number loss	not provided	GUncertain significance
Select item 813277	GRCh37/hg19 14q31.2-32.2(chr14:84783523-96907490)x1	SERPINA10, SERPINA11 +74 more	Copy number loss	Deletion syndrome	GPathogenic
Select item 687996	GRCh37/hg19 14q32.12-32.33(chr14:91969028-107285437)x3	BTBD6, MIR369 +164 more	Copy number gain	not provided	GPathogenic
Select item 564136	GRCh37/hg19 14q31.2-32.2(chr14:84783137-96908198)x1	AK7, ASB2 +74 more	Copy number loss	not provided	GPathogenic
Select item 443977	GRCh37/hg19 14q11.2-32.33(chr14:20511673-107285437)	ABCD4, ABHD12B +624 more	Copy number gain	See cases	GPathogenic
Select item 442718	GRCh37/hg19 14q24.2-32.33(chr14:73750741-107285437)x3	NUMB, OTUB2 +261 more	Copy number gain	See cases	GPathogenic
Select item 441640	GRCh37/hg19 14q32.12-32.13(chr14:93498930-96059698)x3	ASB2, BTBD7 +31 more	Copy number gain	See cases	GUncertain significance

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