ClinVar for Gene (Select 8871) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3172832	NM_003898.4(SYNJ2):c.994A>G (p.Met332Val)	SYNJ2 (M95V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3172831	NM_003898.4(SYNJ2):c.979G>A (p.Ala327Thr)	SYNJ2 (A90T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3172830	NM_003898.4(SYNJ2):c.623G>A (p.Arg208His)	SYNJ2 (R208H)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3172828	NM_003898.4(SYNJ2):c.502G>T (p.Val168Leu)	SYNJ2 (V168L)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3172827	NM_003898.4(SYNJ2):c.4412C>G (p.Thr1471Ser)	SYNJ2 (T1234S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3172826	NM_003898.4(SYNJ2):c.434G>A (p.Arg145His)	SYNJ2 (R145H)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3172825	NM_003898.4(SYNJ2):c.4321A>G (p.Thr1441Ala)	SYNJ2 (T1204A +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3172824	NM_003898.4(SYNJ2):c.4090A>G (p.Ser1364Gly)	SYNJ2 (S1127G +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3172823	NM_003898.4(SYNJ2):c.4066C>T (p.Leu1356Phe)	SYNJ2 (L1119F +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3172822	NM_003898.4(SYNJ2):c.3892G>T (p.Ala1298Ser)	SYNJ2 (A1298S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3172821	NM_003898.4(SYNJ2):c.3845G>A (p.Arg1282Gln)	SYNJ2 (R1282Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3172820	NM_003898.4(SYNJ2):c.3839C>T (p.Ala1280Val)	SYNJ2 (A1280V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3172818	NM_003898.4(SYNJ2):c.3670C>T (p.Pro1224Ser)	SYNJ2 (P1224S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3172817	NM_003898.4(SYNJ2):c.3344C>T (p.Thr1115Ile)	SYNJ2 (T1115I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3172815	NM_003898.4(SYNJ2):c.3080A>G (p.Asn1027Ser)	SYNJ2 (N790S +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3172814	NM_003898.4(SYNJ2):c.2962G>C (p.Val988Leu)	SYNJ2 (V751L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3172813	NM_003898.4(SYNJ2):c.2957C>A (p.Ala986Asp)	SYNJ2 (A986D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3172812	NM_003898.4(SYNJ2):c.2813C>T (p.Thr938Ile)	SYNJ2 (T701I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3172811	NM_003898.4(SYNJ2):c.2750A>G (p.Gln917Arg)	SYNJ2 (Q917R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3172809	NM_003898.4(SYNJ2):c.2621G>A (p.Arg874Gln)	SYNJ2 (R637Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3172808	NM_003898.4(SYNJ2):c.2593G>A (p.Glu865Lys)	SYNJ2 (E865K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3172807	NM_003898.4(SYNJ2):c.2395G>A (p.Ala799Thr)	SYNJ2 (A562T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3172806	NM_003898.4(SYNJ2):c.2176G>A (p.Asp726Asn)	SYNJ2 (D489N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3172805	NM_003898.4(SYNJ2):c.2153A>G (p.His718Arg)	SYNJ2 (H481R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3172804	NM_003898.4(SYNJ2):c.2119C>T (p.Leu707Phe)	SYNJ2 (L707F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3172803	NM_003898.4(SYNJ2):c.2116A>C (p.Lys706Gln)	SYNJ2 (K469Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3172802	NM_003898.4(SYNJ2):c.2110A>G (p.Thr704Ala)	SYNJ2 (T467A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3172801	NM_003898.4(SYNJ2):c.187T>A (p.Cys63Ser)	SYNJ2 (C63S)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3172800	NM_003898.4(SYNJ2):c.1600A>T (p.Met534Leu)	SYNJ2 (M534L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3172799	NM_003898.4(SYNJ2):c.1361T>C (p.Val454Ala)	SYNJ2 (V217A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3172798	NM_003898.4(SYNJ2):c.1090T>G (p.Phe364Val)	SYNJ2 (F127V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3148927	GRCh37/hg19 6q25.2-27(chr6:152853218-170914297)x1	ACAT2, AFDN +79 more	Copy number loss	See cases	GPathogenic
Select item 2663766	NC_000006.12:g.(?_150381239)_(159553952_?)del	LOC129997480, LOC129997522 +288 more	Deletion	Chromosome 6q24-q25 deletion syndrome	GPathogenic
Select item 2657081	NM_003898.4(SYNJ2):c.4002G>A (p.Pro1334=)	SYNJ2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2657080	NM_003898.4(SYNJ2):c.3306T>A (p.Pro1102=)	SYNJ2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2657079	NM_003898.4(SYNJ2):c.2745C>T (p.Leu915=)	SYNJ2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2657078	NM_003898.4(SYNJ2):c.2544G>A (p.Ala848=)	SYNJ2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2657077	NM_003898.4(SYNJ2):c.1717+3G>A	SYNJ2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2657076	NM_003898.4(SYNJ2):c.1680C>T (p.Leu560=)	SYNJ2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2598690	NM_003898.4(SYNJ2):c.2057T>G (p.Leu686Arg)	SYNJ2 (L686R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2597836	NM_003898.4(SYNJ2):c.3821C>G (p.Ala1274Gly)	SYNJ2 (A1037G +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2594445	NM_003898.4(SYNJ2):c.3213C>G (p.Asp1071Glu)	SYNJ2 (D834E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2594406	NM_003898.4(SYNJ2):c.3812G>A (p.Ser1271Asn)	SYNJ2 (S1271N +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2589968	NM_003898.4(SYNJ2):c.638G>A (p.Arg213His)	SYNJ2 (R213H)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2588987	NM_003898.4(SYNJ2):c.2641G>T (p.Val881Leu)	SYNJ2 (V644L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2579284	GRCh38/hg38 6q25.1-25.3(chr6:150905553-158511926)x1	AKAP12, ARID1B +208 more	Copy number loss	Coffin-Siris syndrome 1	GPathogenic
Select item 2570421	NM_003898.4(SYNJ2):c.2924G>A (p.Arg975Gln)	SYNJ2 (R738Q +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2557151	NM_003898.4(SYNJ2):c.2641G>C (p.Val881Leu)	SYNJ2 (V644L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2556831	NM_003898.4(SYNJ2):c.2087G>C (p.Arg696Pro)	SYNJ2 (R459P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2551555	NM_003898.4(SYNJ2):c.2947G>T (p.Asp983Tyr)	SYNJ2 (D746Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2547782	NM_003898.4(SYNJ2):c.535G>A (p.Asp179Asn)	SYNJ2 (D179N)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2544236	NM_003898.4(SYNJ2):c.949T>G (p.Phe317Val)	SYNJ2 (F80V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2538078	NM_003898.4(SYNJ2):c.3355G>A (p.Val1119Met)	SYNJ2 (V1119M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2535474	NM_003898.4(SYNJ2):c.1957A>T (p.Thr653Ser)	SYNJ2 (T653S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2527377	NM_003898.4(SYNJ2):c.1592G>A (p.Arg531Gln)	SYNJ2 (R294Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2521709	NM_003898.4(SYNJ2):c.1126C>T (p.Arg376Cys)	SYNJ2 (R139C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2520955	NM_003898.4(SYNJ2):c.3950C>G (p.Ala1317Gly)	SYNJ2 (A1080G +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2516116	NM_003898.4(SYNJ2):c.3334C>G (p.Pro1112Ala)	SYNJ2 (P875A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2509726	NM_003898.4(SYNJ2):c.1385G>C (p.Arg462Pro)	SYNJ2 (R225P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2495485	NM_003898.4(SYNJ2):c.532T>C (p.Cys178Arg)	SYNJ2 (C178R)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2493677	NM_003898.4(SYNJ2):c.891G>T (p.Gln297His)	SYNJ2 (Q297H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2492892	NM_003898.4(SYNJ2):c.925G>A (p.Gly309Arg)	SYNJ2 (G309R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2488883	NM_003898.4(SYNJ2):c.1975G>A (p.Gly659Arg)	SYNJ2 (G422R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2488817	NM_003898.4(SYNJ2):c.1384C>T (p.Arg462Trp)	SYNJ2 (R225W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2486209	NM_003898.4(SYNJ2):c.905A>G (p.Asn302Ser)	SYNJ2 (N302S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2484079	NM_003898.4(SYNJ2):c.1513A>G (p.Thr505Ala)	SYNJ2 (T505A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2482842	NM_003898.4(SYNJ2):c.1259T>C (p.Val420Ala)	SYNJ2 (V420A +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely benign
Select item 2472093	NM_003898.4(SYNJ2):c.4000C>G (p.Pro1334Ala)	SYNJ2 (P1097A +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2468651	NM_003898.4(SYNJ2):c.2525T>C (p.Leu842Pro)	SYNJ2 (L842P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2459491	NM_003898.4(SYNJ2):c.2447C>T (p.Thr816Ile)	SYNJ2 (T816I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2457103	NM_003898.4(SYNJ2):c.1469A>G (p.Tyr490Cys)	SYNJ2 (Y253C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2412477	NM_003898.4(SYNJ2):c.1148G>A (p.Arg383Gln)	SYNJ2 (R383Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2412291	NM_003898.4(SYNJ2):c.2539C>T (p.Arg847Cys)	SYNJ2 (R610C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2404285	NM_003898.4(SYNJ2):c.1637G>A (p.Arg546Gln)	SYNJ2 (R546Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2403680	NM_003898.4(SYNJ2):c.763G>A (p.Val255Ile)	SYNJ2 (V255I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2401100	NM_003898.4(SYNJ2):c.1708G>A (p.Asp570Asn)	SYNJ2 (D333N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2396351	NM_003898.4(SYNJ2):c.3638C>T (p.Pro1213Leu)	SYNJ2 (P1213L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2393863	NM_003898.4(SYNJ2):c.3796G>A (p.Gly1266Arg)	SYNJ2 (G1029R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2388885	NM_003898.4(SYNJ2):c.2065G>A (p.Gly689Arg)	SYNJ2 (G689R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2387895	NM_003898.4(SYNJ2):c.1397G>A (p.Arg466Gln)	SYNJ2 (R229Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2383874	NM_003898.4(SYNJ2):c.1631A>C (p.Gln544Pro)	SYNJ2 (Q307P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2382545	NM_003898.4(SYNJ2):c.3832G>A (p.Val1278Met)	SYNJ2 (V1041M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2382259	NM_003898.4(SYNJ2):c.3337C>A (p.Pro1113Thr)	SYNJ2 (P1113T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2375284	NM_003898.4(SYNJ2):c.2938C>T (p.Arg980Trp)	SYNJ2 (R980W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2371732	NM_003898.4(SYNJ2):c.1517C>T (p.Ala506Val)	SYNJ2 (A269V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2360957	NM_003898.4(SYNJ2):c.3229C>T (p.Leu1077Phe)	SYNJ2 (L1077F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2357715	NM_003898.4(SYNJ2):c.3777G>C (p.Gln1259His)	SYNJ2 (Q1259H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2353282	NM_003898.4(SYNJ2):c.1108G>T (p.Gly370Trp)	SYNJ2 (G133W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2344246	NM_003898.4(SYNJ2):c.2851G>A (p.Val951Met)	SYNJ2 (V951M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2339971	NM_003898.4(SYNJ2):c.122C>T (p.Thr41Met)	SYNJ2 (T41M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2338383	NM_003898.4(SYNJ2):c.3322C>T (p.Pro1108Ser)	SYNJ2 (P871S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2308774	NM_003898.4(SYNJ2):c.2353G>A (p.Gly785Ser)	SYNJ2 (G548S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2302578	NM_003898.4(SYNJ2):c.181T>A (p.Tyr61Asn)	SYNJ2 (Y61N)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2298267	NM_003898.4(SYNJ2):c.530G>C (p.Cys177Ser)	SYNJ2 (C177S)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2284971	NM_003898.4(SYNJ2):c.2386C>T (p.Arg796Cys)	SYNJ2 (R796C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2284242	NM_003898.4(SYNJ2):c.10A>G (p.Ser4Gly)	SYNJ2 (S4G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2271283	NM_003898.4(SYNJ2):c.3143C>A (p.Thr1048Lys)	SYNJ2 (T811K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2271282	NM_003898.4(SYNJ2):c.3085C>T (p.Pro1029Ser)	SYNJ2 (P1029S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2266064	NM_003898.4(SYNJ2):c.895G>A (p.Val299Met)	SYNJ2 (V299M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2257291	NM_003898.4(SYNJ2):c.3070G>A (p.Asp1024Asn)	SYNJ2 (D1024N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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