"Ambry Genetics"[submitter] AND "ACAN"[gene] - ClinVar - NCBI

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

Search results

Items: 1 to 100 of 171

<< First< Prev

Page of 2

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1961128	NM_001369268.1(ACAN):c.25G>A (p.Val9Met)	ACAN (V9M)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1528261	NM_001369268.1(ACAN):c.72C>A (p.Asp24Glu)	ACAN (D24E)	Single nucleotide variant (missense variant)	ACAN-related condition +2 more	GConflicting classifications of pathogenicity
Select item 1599247	NM_001369268.1(ACAN):c.113C>T (p.Pro38Leu)	ACAN (P38L)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 284706	NM_001369268.1(ACAN):c.185C>A (p.Thr62Asn)	ACAN (T62N)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1328278	NM_001369268.1(ACAN):c.229C>T (p.Arg77Cys)	ACAN (R77C)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 446080	NM_001369268.1(ACAN):c.230G>A (p.Arg77His)	ACAN (R77H)	Single nucleotide variant (missense variant)	Osteochondritis dissecans +3 more	GConflicting classifications of pathogenicity
Select item 1904570	NM_001369268.1(ACAN):c.277C>T (p.Arg93Cys)	ACAN (R93C)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2180957	NM_001369268.1(ACAN):c.283C>T (p.Arg95Trp)	ACAN (R95W)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2396226	NM_001369268.1(ACAN):c.358G>T (p.Val120Phe)	ACAN (V120F)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 3135175	NM_001369268.1(ACAN):c.361C>T (p.Gln121Ter)	ACAN (Q121*)	Single nucleotide variant (nonsense)	Inborn genetic diseases	GPathogenic
Select item 2603360	NM_001369268.1(ACAN):c.395G>A (p.Arg132His)	ACAN (R132H)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1328341	NM_001369268.1(ACAN):c.400G>A (p.Glu134Lys)	ACAN (E134K)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1440365	NM_001369268.1(ACAN):c.418G>A (p.Glu140Lys)	ACAN (E140K)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2969789	NM_001369268.1(ACAN):c.493A>T (p.Thr165Ser)	ACAN (T165S)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2367489	NM_001369268.1(ACAN):c.499G>A (p.Asp167Asn)	ACAN (D167N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1570243	NM_001369268.1(ACAN):c.518G>A (p.Arg173Gln)	ACAN (R173Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 2177008	NM_001369268.1(ACAN):c.542T>A (p.Ile181Asn)	ACAN (I181N)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2321282	NM_001369268.1(ACAN):c.667G>A (p.Asp223Asn)	ACAN (D223N)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1590293	NM_001369268.1(ACAN):c.703A>T (p.Ile235Phe)	ACAN (I235F)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 2606074	NM_001369268.1(ACAN):c.707G>A (p.Arg236Gln)	ACAN (R236Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1577771	NM_001369268.1(ACAN):c.745G>A (p.Glu249Lys)	ACAN (E249K)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 1418361	NM_001369268.1(ACAN):c.747G>C (p.Glu249Asp)	ACAN (E249D)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2240696	NM_001369268.1(ACAN):c.750G>T (p.Glu250Asp)	ACAN (E250D)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2172005	NM_001369268.1(ACAN):c.820C>T (p.Arg274Trp)	ACAN (R274W)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 2372991	NM_001369268.1(ACAN):c.881T>C (p.Met294Thr)	ACAN (M294T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1492315	NM_001369268.1(ACAN):c.943C>T (p.Arg315Trp)	ACAN (R315W)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1500123	NM_001369268.1(ACAN):c.1004C>T (p.Thr335Met)	ACAN (T335M)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2049105	NM_001369268.1(ACAN):c.1027C>T (p.Arg343Cys)	ACAN (R343C)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2553477	NM_001369268.1(ACAN):c.1085T>C (p.Phe362Ser)	ACAN (F362S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2569795	NM_001369268.1(ACAN):c.1105G>A (p.Asp369Asn)	ACAN (D369N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 520924	NM_001369268.1(ACAN):c.1227del (p.Ser410fs)	ACAN (S410fs)	Deletion (frameshift variant)	not provided +1 more	GPathogenic
Select item 288332	NM_001369268.1(ACAN):c.1246G>A (p.Glu416Lys)	ACAN (E416K)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 3134984	NM_001369268.1(ACAN):c.1288G>T (p.Ala430Ser)	ACAN (A430S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1381049	NM_001369268.1(ACAN):c.1299G>C (p.Glu433Asp)	ACAN (E433D)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2454362	NM_001369268.1(ACAN):c.1361C>T (p.Thr454Met)	ACAN (T454M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2256000	NM_001369268.1(ACAN):c.1393G>A (p.Val465Met)	ACAN (V465M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1328316	NM_001369268.1(ACAN):c.1415C>T (p.Pro472Leu)	ACAN (P472L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1297739	NM_001369268.1(ACAN):c.1507A>T (p.Thr503Ser)	ACAN (T503S)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2175786	NM_001369268.1(ACAN):c.1526C>T (p.Ser509Leu)	ACAN (S509L)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 3135004	NM_001369268.1(ACAN):c.1562A>G (p.Tyr521Cys)	ACAN (Y521C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1379603	NM_001369268.1(ACAN):c.1567C>G (p.Gln523Glu)	ACAN (Q523E)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2545284	NM_001369268.1(ACAN):c.1571G>T (p.Cys524Phe)	ACAN (C524F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2514239	NM_001369268.1(ACAN):c.1588C>T (p.Arg530Trp)	ACAN (R530W)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1599615	NM_001369268.1(ACAN):c.1589G>A (p.Arg530Gln)	ACAN (R530Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GBenign/Likely benign
Select item 2597647	NM_001369268.1(ACAN):c.1627A>G (p.Thr543Ala)	ACAN (T543A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1573619	NM_001369268.1(ACAN):c.1666A>T (p.Arg556Trp)	ACAN (R556W)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 1670613	NM_001369268.1(ACAN):c.1678G>A (p.Val560Met)	ACAN (V560M)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 2535509	NM_001369268.1(ACAN):c.1684C>G (p.Pro562Ala)	ACAN (P562A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2315680	NM_001369268.1(ACAN):c.1694A>G (p.Glu565Gly)	ACAN (E565G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2169844	NM_001369268.1(ACAN):c.1754G>A (p.Arg585His)	ACAN (R585H)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2482849	NM_001369268.1(ACAN):c.1780G>A (p.Ala594Thr)	ACAN (A594T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2616462	NM_001369268.1(ACAN):c.1783C>G (p.Leu595Val)	ACAN (L595V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2195579	NM_001369268.1(ACAN):c.1840G>A (p.Ala614Thr)	ACAN (A614T)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1406100	NM_001369268.1(ACAN):c.1898G>A (p.Arg633His)	ACAN (R633H)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2569199	NM_001369268.1(ACAN):c.1913C>T (p.Thr638Ile)	ACAN (T638I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 873431	NM_001369268.1(ACAN):c.1955C>T (p.Thr652Met)	ACAN (T652M)	Single nucleotide variant (missense variant)	Osteochondritis dissecans +2 more	GUncertain significance
Select item 1428432	NM_001369268.1(ACAN):c.2002C>T (p.Arg668Trp)	ACAN (R668W)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2318198	NM_001369268.1(ACAN):c.2008C>A (p.His670Asn)	ACAN (H670N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2479012	NM_001369268.1(ACAN):c.2185A>G (p.Ile729Val)	ACAN (I729V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1434527	NM_001369268.1(ACAN):c.2203G>A (p.Glu735Lys)	ACAN (E735K)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 497217	NM_001369268.1(ACAN):c.2261T>C (p.Leu754Pro)	ACAN (L754P)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 2267889	NM_001369268.1(ACAN):c.2321G>C (p.Gly774Ala)	ACAN (G774A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3135076	NM_001369268.1(ACAN):c.2341C>T (p.Pro781Ser)	ACAN (P781S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3135079	NM_001369268.1(ACAN):c.2396C>T (p.Pro799Leu)	ACAN (P799L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2223849	NM_001369268.1(ACAN):c.2443G>A (p.Val815Met)	ACAN (V815M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1318983	NM_001369268.1(ACAN):c.2483A>G (p.Glu828Gly)	ACAN (E828G)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 3135086	NM_001369268.1(ACAN):c.2512T>C (p.Ser838Pro)	ACAN (S838P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2510224	NM_001369268.1(ACAN):c.2513C>T (p.Ser838Leu)	ACAN (S838L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2624203	NM_001369268.1(ACAN):c.2528C>G (p.Thr843Arg)	ACAN (T843R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2364911	NM_001369268.1(ACAN):c.2542G>A (p.Val848Met)	ACAN (V848M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3135106	NM_001369268.1(ACAN):c.2674A>G (p.Ser892Gly)	ACAN (S892G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2255061	NM_001369268.1(ACAN):c.2714C>T (p.Thr905Ile)	ACAN (T905I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3135111	NM_001369268.1(ACAN):c.2743del (p.Glu915fs)	ACAN (E915fs)	Deletion (frameshift variant)	Inborn genetic diseases	GPathogenic
Select item 2248106	NM_001369268.1(ACAN):c.2785C>T (p.Pro929Ser)	ACAN (P929S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3135114	NM_001369268.1(ACAN):c.2798C>T (p.Thr933Met)	ACAN (T933M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2556128	NM_001369268.1(ACAN):c.2809C>G (p.Leu937Val)	ACAN (L937V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2298748	NM_001369268.1(ACAN):c.2906G>T (p.Gly969Val)	ACAN (G969V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3135129	NM_001369268.1(ACAN):c.2936G>T (p.Gly979Val)	ACAN (G979V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3135131	NM_001369268.1(ACAN):c.2941G>A (p.Val981Ile)	ACAN (V981I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 225092	NM_001369268.1(ACAN):c.2953A>G (p.Thr985Ala)	ACAN (T985A)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2325847	NM_001369268.1(ACAN):c.2965G>A (p.Val989Ile)	ACAN (V989I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3135137	NM_001369268.1(ACAN):c.2974A>C (p.Ile992Leu)	ACAN (I992L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3135141	NM_001369268.1(ACAN):c.2979C>A (p.Ser993Arg)	ACAN (S993R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3135143	NM_001369268.1(ACAN):c.2984T>C (p.Leu995Pro)	ACAN (L995P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3135150	NM_001369268.1(ACAN):c.2999T>C (p.Val1000Ala)	ACAN (V1000A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3135153	NM_001369268.1(ACAN):c.3004G>C (p.Glu1002Gln)	ACAN (E1002Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3135156	NM_001369268.1(ACAN):c.3007A>G (p.Thr1003Ala)	ACAN (T1003A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2286465	NM_001369268.1(ACAN):c.3007A>T (p.Thr1003Ser)	ACAN (T1003S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3135161	NM_001369268.1(ACAN):c.3008C>T (p.Thr1003Ile)	ACAN (T1003I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2545070	NM_001369268.1(ACAN):c.3287T>A (p.Leu1096Gln)	ACAN (L1096Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 496983	NM_001369268.1(ACAN):c.3580G>A (p.Ala1194Thr)	ACAN (A1194T)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 2568840	NM_001369268.1(ACAN):c.3694G>A (p.Ala1232Thr)	ACAN (A1232T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2334195	NM_001369268.1(ACAN):c.3737A>G (p.Glu1246Gly)	ACAN (E1246G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2549091	NM_001369268.1(ACAN):c.3751G>A (p.Ala1251Thr)	ACAN (A1251T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 1206406	NM_001369268.1(ACAN):c.4120G>A (p.Gly1374Arg)	ACAN (G1374R)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2326631	NM_001369268.1(ACAN):c.4168G>A (p.Asp1390Asn)	ACAN (D1390N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2242463	NM_001369268.1(ACAN):c.4176C>G (p.Ser1392Arg)	ACAN (S1392R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2550777	NM_001369268.1(ACAN):c.4186T>C (p.Ser1396Pro)	ACAN (S1396P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2373380	NM_001369268.1(ACAN):c.4338G>T (p.Glu1446Asp)	ACAN (E1446D)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 3135205	NM_001369268.1(ACAN):c.4378T>G (p.Ser1460Ala)	ACAN (S1460A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance

<< First< Prev

Page of 2