ClinVar for Gene (Select 84465) - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Links from Gene

Items: 1 to 100 of 102

<< First< Prev

Page of 2

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3294108	NM_001385028.1(MEGF11):c.3276T>A (p.Ser1092Arg)	MEGF11 (S1092R +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3294107	NM_001385028.1(MEGF11):c.1022G>A (p.Gly341Asp)	MEGF11 (G266D +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3294106	NM_001385028.1(MEGF11):c.845A>C (p.Gln282Pro)	MEGF11 (Q282P +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3294105	NM_001385028.1(MEGF11):c.947A>G (p.Gln316Arg)	MEGF11 (Q236R +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3294104	NM_001385028.1(MEGF11):c.3300T>G (p.His1100Gln)	MEGF11 (H1100Q +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3294103	NM_001385028.1(MEGF11):c.2512A>G (p.Ile838Val)	MEGF11 (I795V +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3294102	NM_001385028.1(MEGF11):c.2656C>G (p.Arg886Gly)	MEGF11 (R886G +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3294101	NM_001385028.1(MEGF11):c.3020G>A (p.Arg1007His)	MEGF11 (R1007H +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3294100	NM_001385028.1(MEGF11):c.149A>G (p.Tyr50Cys)	MEGF11 (Y50C +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3294099	NM_001385028.1(MEGF11):c.3303C>G (p.Asn1101Lys)	MEGF11 (N930K +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3294098	NM_001385028.1(MEGF11):c.2624G>A (p.Arg875Gln)	MEGF11 (R800Q +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3125139	NM_001385028.1(MEGF11):c.922G>A (p.Gly308Arg)	MEGF11 (G233R +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3125138	NM_001385028.1(MEGF11):c.79G>A (p.Val27Met)	MEGF11 (V27M)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3125137	NM_001385028.1(MEGF11):c.797C>T (p.Thr266Ile)	MEGF11 (T186I +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3125136	NM_001385028.1(MEGF11):c.779A>G (p.Gln260Arg)	MEGF11 (Q180R +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3125135	NM_001385028.1(MEGF11):c.503G>A (p.Arg168His)	MEGF11 (R168H +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3125133	NM_001385028.1(MEGF11):c.402C>G (p.Asp134Glu)	MEGF11 (D134E +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3125132	NM_001385028.1(MEGF11):c.3418T>C (p.Ser1140Pro)	MEGF11 (S1044P +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3125131	NM_001385028.1(MEGF11):c.3334C>T (p.Pro1112Ser)	MEGF11 (P1016S +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3125130	NM_001385028.1(MEGF11):c.3328G>A (p.Asp1110Asn)	MEGF11 (D1014N +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3125129	NM_001385028.1(MEGF11):c.260A>G (p.Gln87Arg)	MEGF11 (Q7R +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3125128	NM_001385028.1(MEGF11):c.2507C>T (p.Thr836Ile)	MEGF11 (T756I +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3125127	NM_001385028.1(MEGF11):c.218C>T (p.Ala73Val)	MEGF11 (A73V)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 3125126	NM_001385028.1(MEGF11):c.2081C>T (p.Ser694Leu)	MEGF11 (S614L +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3125125	NM_001385028.1(MEGF11):c.2009C>T (p.Ala670Val)	MEGF11 (A590V +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3125124	NM_001385028.1(MEGF11):c.194G>T (p.Arg65Met)	MEGF11 (G24C +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3125123	NM_001385028.1(MEGF11):c.1918G>C (p.Glu640Gln)	MEGF11 (E560Q +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3125122	NM_001385028.1(MEGF11):c.1849G>A (p.Gly617Ser)	MEGF11 (G537S +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3125121	NM_001385028.1(MEGF11):c.1556G>A (p.Cys519Tyr)	MEGF11 (C439Y +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3125119	NM_001385028.1(MEGF11):c.1467C>G (p.Cys489Trp)	MEGF11 (C409W +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2684761	GRCh37/hg19 15q22.31(chr15:66349832-66790693)x3	DIS3L, MAP2K1 +3 more	Copy number gain	not provided	GUncertain significance
Select item 2645465	NM_001385028.1(MEGF11):c.18G>A (p.Thr6=)	MEGF11	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2622812	NM_001385028.1(MEGF11):c.337G>A (p.Val113Ile)	MEGF11 (V38I +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2622753	NM_001385028.1(MEGF11):c.406G>C (p.Asp136His)	MEGF11 (D136H +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2617792	NM_001385028.1(MEGF11):c.1020G>T (p.Lys340Asn)	MEGF11 (K265N +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2612556	NM_001385028.1(MEGF11):c.604G>A (p.Gly202Ser)	MEGF11 (G202S +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2610489	NM_001385028.1(MEGF11):c.1690A>G (p.Ser564Gly)	MEGF11 (S489G +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2609757	NM_001385028.1(MEGF11):c.550G>A (p.Gly184Arg)	MEGF11 (G104R +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2604916	NM_001385028.1(MEGF11):c.2491G>A (p.Glu831Lys)	MEGF11 (E751K +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2601612	NM_001385028.1(MEGF11):c.437G>T (p.Cys146Phe)	MEGF11 (C71F +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2591185	NM_001385028.1(MEGF11):c.433C>G (p.Arg145Gly)	MEGF11 (R70G +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2548917	NM_001385028.1(MEGF11):c.1754G>T (p.Gly585Val)	MEGF11 (G510V +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2541816	NM_001385028.1(MEGF11):c.1909G>A (p.Gly637Ser)	MEGF11 (G557S +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2541793	NM_001385028.1(MEGF11):c.1211A>G (p.Gln404Arg)	MEGF11 (Q324R +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2541014	NM_001385028.1(MEGF11):c.2660T>C (p.Val887Ala)	MEGF11 (V812A +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2531115	NM_001385028.1(MEGF11):c.695G>C (p.Cys232Ser)	MEGF11 (C152S +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2521747	NM_001385028.1(MEGF11):c.1702C>T (p.Pro568Ser)	MEGF11 (P493S +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2509638	NM_001385028.1(MEGF11):c.761C>T (p.Thr254Met)	MEGF11 (T179M +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2486170	NM_001385028.1(MEGF11):c.328G>A (p.Gly110Ser)	MEGF11 (G30S +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2460022	NM_001385028.1(MEGF11):c.1742G>C (p.Cys581Ser)	MEGF11 (C501S +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2456592	NM_001385028.1(MEGF11):c.2014A>G (p.Asn672Asp)	MEGF11 (N597D +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2406085	NM_001385028.1(MEGF11):c.1855G>A (p.Ala619Thr)	MEGF11 (A539T +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2404213	NM_001385028.1(MEGF11):c.2251C>T (p.Arg751Cys)	MEGF11 (R671C +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2399963	NM_001385028.1(MEGF11):c.3008G>A (p.Gly1003Glu)	MEGF11 (G1003E +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2394792	NM_001385028.1(MEGF11):c.2620C>T (p.Arg874Trp)	MEGF11 (R794W +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2389894	NM_001385028.1(MEGF11):c.2147C>T (p.Ala716Val)	MEGF11 (A716V +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2389399	NM_001385028.1(MEGF11):c.1385A>G (p.Asp462Gly)	MEGF11 (D382G +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2386920	NM_001385028.1(MEGF11):c.1303G>A (p.Val435Ile)	MEGF11 (V355I +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2383531	NM_001385028.1(MEGF11):c.637G>C (p.Val213Leu)	MEGF11 (V138L +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2380973	NM_001385028.1(MEGF11):c.517G>A (p.Glu173Lys)	MEGF11 (E98K +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2376876	NM_001385028.1(MEGF11):c.1682G>A (p.Arg561His)	MEGF11 (R481H +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2374598	NM_001385028.1(MEGF11):c.1681C>T (p.Arg561Cys)	MEGF11 (R561C +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2368950	NM_001385028.1(MEGF11):c.1324T>C (p.Tyr442His)	MEGF11 (Y362H +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2368488	NM_001385028.1(MEGF11):c.393C>A (p.Ser131Arg)	MEGF11 (S131R +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2366892	NM_001385028.1(MEGF11):c.736G>A (p.Glu246Lys)	MEGF11 (E166K +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2363460	NM_001385028.1(MEGF11):c.2557A>C (p.Thr853Pro)	MEGF11 (T810P +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2361951	NM_001385028.1(MEGF11):c.1096G>A (p.Ala366Thr)	MEGF11 (A291T +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2359531	NM_001385028.1(MEGF11):c.247C>T (p.Arg83Trp)	MEGF11 (R3W +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2356067	NM_001385028.1(MEGF11):c.691C>A (p.Arg231Ser)	MEGF11 (R151S +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2355889	NM_001385028.1(MEGF11):c.332G>A (p.Arg111His)	MEGF11 (R111H +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2354370	NM_001385028.1(MEGF11):c.3401C>T (p.Pro1134Leu)	MEGF11 (P1134L +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2352755	NM_001385028.1(MEGF11):c.2017G>A (p.Gly673Arg)	MEGF11 (G598R +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2351228	NM_001385028.1(MEGF11):c.311C>T (p.Thr104Met)	MEGF11 (T24M +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2350275	NM_001385028.1(MEGF11):c.3064A>G (p.Lys1022Glu)	MEGF11 (K851E +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2347770	NM_001385028.1(MEGF11):c.1571C>T (p.Pro524Leu)	MEGF11 (P524L +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2330289	NM_001385028.1(MEGF11):c.856G>A (p.Val286Met)	MEGF11 (V206M +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2315593	NM_001385028.1(MEGF11):c.502C>T (p.Arg168Cys)	MEGF11 (R88C +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2312853	NM_001385028.1(MEGF11):c.160T>C (p.Cys54Arg)	MEGF11 (C54R)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 2297005	NM_001385028.1(MEGF11):c.236G>A (p.Arg79Gln)	MEGF11 (R79Q)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 2276264	NM_001385028.1(MEGF11):c.2618G>A (p.Arg873Gln)	MEGF11 (R793Q +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2274397	NM_001385028.1(MEGF11):c.2656C>T (p.Arg886Cys)	MEGF11 (R811C +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2274317	NM_001385028.1(MEGF11):c.701G>T (p.Cys234Phe)	MEGF11 (C154F +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2264925	NM_001385028.1(MEGF11):c.92G>T (p.Trp31Leu)	MEGF11 (W31L)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2263320	NM_001385028.1(MEGF11):c.2477C>T (p.Ala826Val)	MEGF11 (A783V +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2255387	NM_001385028.1(MEGF11):c.2147C>G (p.Ala716Gly)	MEGF11 (A636G +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2243031	NM_001385028.1(MEGF11):c.466C>T (p.Pro156Ser)	MEGF11 (P156S +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2242510	NM_001385028.1(MEGF11):c.1880A>G (p.His627Arg)	MEGF11 (H547R +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2241493	NM_001385028.1(MEGF11):c.3304T>G (p.Ser1102Ala)	MEGF11 (S1006A +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2237897	NM_001385028.1(MEGF11):c.2531C>T (p.Ala844Val)	MEGF11 (A764V +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2224604	NM_001385028.1(MEGF11):c.2239A>G (p.Lys747Glu)	MEGF11 (K667E +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1512687	NC_000015.9:g.(?_66161924)_(69018313_?)dup	AAGAB, C15orf61 +21 more	Duplication	Neuronal ceroid lipofuscinosis	GUncertain significance
Select item 1024934	NC_000015.9:g.(?_32964879)_(91358519_?)dup	CGNL1, MAPDA +472 more	Duplication	Familial colorectal cancer +1 more	GUncertain significance
Select item 560063	Single allele	ANKDD1A, APH1B +40 more	Deletion	Nemaline myopathy 6	GLikely pathogenic
Select item 560049	Single allele	PDIA3, PEAK1 +521 more	Duplication	not provided	GPathogenic
Select item 442893	GRCh37/hg19 15q11.2-26.3(chr15:22770422-102429112)x3	AAGAB, ABHD17C +559 more	Copy number gain	See cases	GPathogenic
Select item 442892	GRCh37/hg19 15q11.2-26.3(chr15:22770422-102429112)	NOX5, NPAP1 +559 more	Copy number gain	See cases	GPathogenic
Select item 395145	GRCh37/hg19 15q11.2-26.3(chr15:20733395-102511616)x4	CHRFAM7A, CHRM5 +566 more	Copy number gain	See cases	GPathogenic
Select item 394887	GRCh37/hg19 15q15.1-26.3(chr15:41745084-102354798)x4	ALDH1A2, ALDH1A3 +444 more	Copy number gain	See cases	GPathogenic
Select item 369835	GRCh37/hg19 15q22.1-26.3(chr15:59297293-102480888)x3	WHAMM, CCNB2 +308 more	Copy number gain	not provided	GLikely pathogenic
Select item 253516	GRCh37/hg19 15q22.31-26.3(chr15:64637227-102509910)x3	AAGAB, ABHD17C +278 more	Copy number gain	See cases	GPathogenic

<< First< Prev

Page of 2