ClinVar for Gene (Select 339768) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3148939	GRCh37/hg19 2q35-37.3(chr2:216815496-242782258)x3	AAMP, ABCB6 +218 more	Copy number gain	See cases	GPathogenic
Select item 3148871	GRCh37/hg19 2q37.3(chr2:237577774-239670026)x3	ASB1, COL6A3 +16 more	Copy number gain	See cases	GPathogenic
Select item 3148868	GRCh37/hg19 2q37.1-37.3(chr2:235267074-242782258)x1	ACKR3, AGAP1 +60 more	Copy number loss	See cases	GPathogenic
Select item 3090528	NM_194312.4(ESPNL):c.991C>A (p.Pro331Thr)	ESPNL (P331T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3090527	NM_194312.4(ESPNL):c.976G>T (p.Val326Leu)	ESPNL (V326L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3090526	NM_194312.4(ESPNL):c.958G>A (p.Ala320Thr)	ESPNL (A320T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3090525	NM_194312.4(ESPNL):c.920C>T (p.Ala307Val)	ESPNL (A307V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3090524	NM_194312.4(ESPNL):c.865A>G (p.Thr289Ala)	ESPNL (T289A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3090523	NM_194312.4(ESPNL):c.668G>T (p.Trp223Leu)	ESPNL (W223L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3090522	NM_194312.4(ESPNL):c.640G>A (p.Ala214Thr)	ESPNL (A214T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3090521	NM_194312.4(ESPNL):c.638C>T (p.Ala213Val)	ESPNL (A213V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3090519	NM_194312.4(ESPNL):c.58C>T (p.Arg20Trp)	ESPNL (R20W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3090518	NM_194312.4(ESPNL):c.415C>T (p.Arg139Trp)	ESPNL (R139W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3090517	NM_194312.4(ESPNL):c.320C>T (p.Pro107Leu)	ESPNL (P107L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3090516	NM_194312.4(ESPNL):c.2923G>A (p.Gly975Ser)	ESPNL (G607S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3090514	NM_194312.4(ESPNL):c.2770G>A (p.Ala924Thr)	ESPNL (A556T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3090513	NM_194312.4(ESPNL):c.2719G>A (p.Glu907Lys)	ESPNL (E907K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3090511	NM_194312.4(ESPNL):c.2714C>A (p.Thr905Asn)	ESPNL (T905N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3090510	NM_194312.4(ESPNL):c.2693G>A (p.Arg898His)	ESPNL (R898H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3090509	NM_194312.4(ESPNL):c.264G>C (p.Trp88Cys)	ESPNL (W88C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3090508	NM_194312.4(ESPNL):c.2600A>T (p.Glu867Val)	ESPNL (E499V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3090507	NM_194312.4(ESPNL):c.2592G>C (p.Gln864His)	ESPNL (Q496H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3090506	NM_194312.4(ESPNL):c.2335G>A (p.Ala779Thr)	ESPNL (A779T +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3090505	NM_194312.4(ESPNL):c.2321G>A (p.Arg774Gln)	ESPNL (R406Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3090504	NM_194312.4(ESPNL):c.2312C>T (p.Ala771Val)	ESPNL (A403V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3090503	NM_194312.4(ESPNL):c.2161G>A (p.Val721Met)	ESPNL (V721M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3090502	NM_194312.4(ESPNL):c.2119G>A (p.Asp707Asn)	ESPNL (D339N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3090500	NM_194312.4(ESPNL):c.2014G>A (p.Gly672Ser)	ESPNL (G672S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3090499	NM_194312.4(ESPNL):c.1966C>T (p.Arg656Trp)	ESPNL (R288W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3090498	NM_194312.4(ESPNL):c.1807C>G (p.Leu603Val)	ESPNL (L603V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3090497	NM_194312.4(ESPNL):c.1802G>A (p.Arg601His)	ESPNL (R601H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3090496	NM_194312.4(ESPNL):c.1793G>A (p.Arg598His)	ESPNL (R598H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3090495	NM_194312.4(ESPNL):c.1670G>A (p.Arg557Gln)	ESPNL (R189Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3090494	NM_194312.4(ESPNL):c.1600G>T (p.Ala534Ser)	ESPNL (A534S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3090493	NM_194312.4(ESPNL):c.1500G>C (p.Glu500Asp)	ESPNL (E132D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3090492	NM_194312.4(ESPNL):c.1408G>A (p.Ala470Thr)	ESPNL (A470T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3090491	NM_194312.4(ESPNL):c.1049G>A (p.Arg350Lys)	ESPNL (R350K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3090490	NM_194312.4(ESPNL):c.1019C>T (p.Pro340Leu)	ESPNL (P340L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3062615	GRCh37/hg19 2q37.2-37.3(chr2:236057846-242783384)x1	ACKR3, AGAP1 +58 more	Copy number loss	not specified	GPathogenic
Select item 3062606	GRCh37/hg19 2q37.2-37.3(chr2:236726690-242783384)x1	ACKR3, AGAP1 +58 more	Copy number loss	not specified	GPathogenic
Select item 2685885	GRCh37/hg19 2q37.3(chr2:238178706-239202040)x3	COL6A3, ERFE +13 more	Copy number gain	not provided	GUncertain significance
Select item 2685875	GRCh37/hg19 2q35-37.3(chr2:218376403-242783384)x3	AAMP, ABCB6 +208 more	Copy number gain	not provided	GPathogenic
Select item 2684986	GRCh37/hg19 2q37.3(chr2:238460671-242783384)x1	AQP12A, AGXT +51 more	Copy number loss	not provided	GPathogenic
Select item 2671587	Single allele	CHRND, LRRFIP1 +123 more	Duplication	not provided	GPathogenic
Select item 2652060	NM_194312.4(ESPNL):c.*454G>A	ESPNL	Single nucleotide variant (3 prime UTR variant)	not provided	GLikely benign
Select item 2652059	NM_194312.4(ESPNL):c.1449G>A (p.Ala483=)	ESPNL	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2652058	NM_194312.4(ESPNL):c.729G>A (p.Leu243=)	ESPNL	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2609439	NM_194312.4(ESPNL):c.533C>A (p.Ala178Asp)	ESPNL (A178D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2607764	NM_194312.4(ESPNL):c.1244C>T (p.Thr415Ile)	ESPNL (T47I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2599202	NM_194312.4(ESPNL):c.601C>T (p.Arg201Cys)	ESPNL (R201C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2598330	NM_194312.4(ESPNL):c.572T>C (p.Val191Ala)	ESPNL (V191A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2594947	NM_194312.4(ESPNL):c.59G>A (p.Arg20Gln)	ESPNL (R20Q)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2548851	NM_194312.4(ESPNL):c.2296C>G (p.Leu766Val)	ESPNL (L398V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2517821	NM_194312.4(ESPNL):c.859T>C (p.Cys287Arg)	ESPNL (C287R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2515480	NM_194312.4(ESPNL):c.2470C>T (p.Arg824Trp)	ESPNL (R824W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2495840	NM_194312.4(ESPNL):c.253G>A (p.Glu85Lys)	ESPNL (E85K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2494186	NM_194312.4(ESPNL):c.1561C>T (p.Arg521Cys)	ESPNL (R521C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2483834	NM_194312.4(ESPNL):c.327C>A (p.His109Gln)	ESPNL (H109Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2483560	NM_194312.4(ESPNL):c.126C>A (p.His42Gln)	ESPNL (H42Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2474144	NM_194312.4(ESPNL):c.1046C>G (p.Thr349Arg)	ESPNL (T349R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2463818	NM_194312.4(ESPNL):c.932C>T (p.Ala311Val)	ESPNL (A311V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2458615	NM_194312.4(ESPNL):c.386C>T (p.Ser129Leu)	ESPNL (S129L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2458398	NM_194312.4(ESPNL):c.970C>T (p.Arg324Trp)	ESPNL (R324W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2457110	NM_194312.4(ESPNL):c.433G>A (p.Ala145Thr)	ESPNL (A145T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2455684	NM_194312.4(ESPNL):c.1753G>A (p.Gly585Arg)	ESPNL (G585R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2425085	NC_000002.11:g.(?_236403331)_(242801596_?)del	ACKR3, AGAP1 +59 more	Deletion	Bethlem myopathy 1A	GPathogenic
Select item 2412470	NM_194312.4(ESPNL):c.2962C>T (p.Arg988Cys)	ESPNL (R620C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2409723	NM_194312.4(ESPNL):c.3001T>C (p.Phe1001Leu)	ESPNL (F633L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2401478	NM_194312.4(ESPNL):c.2219G>A (p.Arg740His)	ESPNL (R372H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2400542	NM_194312.4(ESPNL):c.2900G>A (p.Arg967Gln)	ESPNL (R599Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2400436	NM_194312.4(ESPNL):c.1808T>C (p.Leu603Pro)	ESPNL (L603P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2396926	NM_194312.4(ESPNL):c.664G>A (p.Val222Ile)	ESPNL (V222I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2394760	NM_194312.4(ESPNL):c.172C>T (p.Arg58Trp)	ESPNL (R58W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2392226	NM_194312.4(ESPNL):c.927C>A (p.Asp309Glu)	ESPNL (D309E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2390008	NM_194312.4(ESPNL):c.622G>A (p.Ala208Thr)	ESPNL (A208T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2389815	NM_194312.4(ESPNL):c.2819G>C (p.Gly940Ala)	ESPNL (G572A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2381752	NM_194312.4(ESPNL):c.2527G>A (p.Val843Met)	ESPNL (V475M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2379766	NM_194312.4(ESPNL):c.2027C>T (p.Pro676Leu)	ESPNL (P308L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2379615	NM_194312.4(ESPNL):c.1565G>A (p.Arg522His)	ESPNL (R154H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2375716	NM_194312.4(ESPNL):c.2492G>A (p.Arg831His)	ESPNL (R463H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2372654	NM_194312.4(ESPNL):c.1942T>C (p.Trp648Arg)	ESPNL (W280R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2369606	NM_194312.4(ESPNL):c.956G>A (p.Cys319Tyr)	ESPNL (C319Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2365527	NM_194312.4(ESPNL):c.586G>A (p.Ala196Thr)	ESPNL (A196T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2350234	NM_194312.4(ESPNL):c.2311G>A (p.Ala771Thr)	ESPNL (A403T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2345654	NM_194312.4(ESPNL):c.187G>A (p.Gly63Ser)	ESPNL (G63S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2344357	NM_194312.4(ESPNL):c.2378G>A (p.Arg793Gln)	ESPNL (R793Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2331385	NM_194312.4(ESPNL):c.2069C>G (p.Ala690Gly)	ESPNL (A690G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2329908	NM_194312.4(ESPNL):c.2875A>T (p.Ser959Cys)	ESPNL (S591C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2326530	NM_194312.4(ESPNL):c.1756G>T (p.Val586Leu)	ESPNL (V218L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2314082	NM_194312.4(ESPNL):c.447C>A (p.Asp149Glu)	ESPNL (D149E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2309598	NM_194312.4(ESPNL):c.2786C>T (p.Ser929Phe)	ESPNL (S929F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2308899	NM_194312.4(ESPNL):c.47C>T (p.Ala16Val)	ESPNL (A16V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2308640	NM_194312.4(ESPNL):c.490G>A (p.Val164Met)	ESPNL (V164M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2305751	NM_194312.4(ESPNL):c.1423G>A (p.Gly475Arg)	ESPNL (G107R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2300800	NM_194312.4(ESPNL):c.431C>A (p.Ala144Asp)	ESPNL (A144D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2290863	NM_194312.4(ESPNL):c.334G>T (p.Ala112Ser)	ESPNL (A112S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2288678	NM_194312.4(ESPNL):c.1528C>G (p.Leu510Val)	ESPNL (L510V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2271845	NM_194312.4(ESPNL):c.38G>C (p.Gly13Ala)	ESPNL (G13A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2271614	NM_194312.4(ESPNL):c.681C>G (p.Phe227Leu)	ESPNL (F227L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2270567	NM_194312.4(ESPNL):c.2390T>C (p.Leu797Pro)	ESPNL (L429P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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