ClinVar for Gene (Select 55561) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3063215	GRCh37/hg19 11q12.1-13.3(chr11:56895955-69295402)x3	ACTN3, ACY3 +343 more	Copy number gain	not specified	GLikely pathogenic
Select item 2684648	GRCh37/hg19 11q13.1(chr11:64573225-65193732)x3	ARL2, ATG2A +29 more	Copy number gain	not provided	GUncertain significance
Select item 2684647	GRCh37/hg19 11q13.1(chr11:64557855-64741375)x3	ATG2A, CDC42BPG +8 more	Copy number gain	not provided	GUncertain significance
Select item 2684646	GRCh37/hg19 11q12.2-13.5(chr11:59923608-76272324)x3	ACTN3, ACY3 +362 more	Copy number gain	not provided	GPathogenic
Select item 2641936	NM_017525.3(CDC42BPG):c.2019G>A (p.Thr673=)	CDC42BPG	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2641935	NM_017525.3(CDC42BPG):c.3366C>T (p.Asn1122=)	CDC42BPG	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2623057	NM_017525.3(CDC42BPG):c.2404G>A (p.Gly802Arg)	CDC42BPG (G802R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2617758	NM_017525.3(CDC42BPG):c.4240G>T (p.Val1414Leu)	CDC42BPG (V1414L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2608326	NM_017525.3(CDC42BPG):c.1622G>A (p.Arg541Gln)	CDC42BPG (R541Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2600875	NM_017525.3(CDC42BPG):c.2210T>C (p.Met737Thr)	CDC42BPG (M737T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2596278	NM_017525.3(CDC42BPG):c.19G>A (p.Ala7Thr)	CDC42BPG, LOC130005962 (A7T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2592260	NM_017525.3(CDC42BPG):c.194G>A (p.Arg65His)	CDC42BPG (R65H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2588221	NM_017525.3(CDC42BPG):c.3649C>T (p.Arg1217Cys)	CDC42BPG (R1217C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2562573	NM_017525.3(CDC42BPG):c.1291A>G (p.Arg431Gly)	CDC42BPG (R431G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2561043	NM_017525.3(CDC42BPG):c.3652C>T (p.Arg1218Cys)	CDC42BPG (R1218C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2559484	NM_017525.3(CDC42BPG):c.1410G>T (p.Leu470Phe)	CDC42BPG (L470F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2551733	NM_017525.3(CDC42BPG):c.3931C>T (p.His1311Tyr)	CDC42BPG (H1311Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2550365	NM_017525.3(CDC42BPG):c.2747G>A (p.Cys916Tyr)	CDC42BPG (C916Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2547508	NM_017525.3(CDC42BPG):c.1220G>T (p.Ser407Ile)	CDC42BPG (S407I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2541381	NM_017525.3(CDC42BPG):c.910G>A (p.Val304Met)	CDC42BPG (V304M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2539626	NM_017525.3(CDC42BPG):c.1888G>C (p.Gly630Arg)	CDC42BPG (G630R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2529853	NM_017525.3(CDC42BPG):c.2767C>G (p.Gln923Glu)	CDC42BPG (Q923E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2523513	NM_017525.3(CDC42BPG):c.1250G>A (p.Arg417Gln)	CDC42BPG (R417Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2523507	NM_017525.3(CDC42BPG):c.3226C>T (p.Arg1076Trp)	CDC42BPG (R1076W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2520339	NM_017525.3(CDC42BPG):c.595G>A (p.Asp199Asn)	CDC42BPG (D199N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2519003	NM_017525.3(CDC42BPG):c.1730A>C (p.Gln577Pro)	CDC42BPG (Q577P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2518289	NM_017525.3(CDC42BPG):c.3122C>T (p.Thr1041Met)	CDC42BPG (T1041M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2516714	NM_017525.3(CDC42BPG):c.172G>A (p.Val58Ile)	CDC42BPG (V58I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2516361	NM_017525.3(CDC42BPG):c.2651G>A (p.Arg884Gln)	CDC42BPG (R884Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2515918	NM_017525.3(CDC42BPG):c.3595G>A (p.Val1199Ile)	CDC42BPG (V1199I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2513205	NM_017525.3(CDC42BPG):c.4289C>G (p.Pro1430Arg)	CDC42BPG (P1430R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2509073	NM_017525.3(CDC42BPG):c.3232G>A (p.Val1078Met)	CDC42BPG (V1078M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2491311	NM_017525.3(CDC42BPG):c.4183G>C (p.Asp1395His)	CDC42BPG (D1395H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2490127	NM_017525.3(CDC42BPG):c.4510C>G (p.Pro1504Ala)	CDC42BPG (P1504A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2487710	NM_017525.3(CDC42BPG):c.1262G>C (p.Cys421Ser)	CDC42BPG (C421S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2482495	NM_017525.3(CDC42BPG):c.4217G>A (p.Ser1406Asn)	CDC42BPG (S1406N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2478949	NM_017525.3(CDC42BPG):c.4228T>G (p.Phe1410Val)	CDC42BPG (F1410V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2474074	NM_017525.3(CDC42BPG):c.514G>A (p.Ala172Thr)	CDC42BPG (A172T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2466809	NM_017525.3(CDC42BPG):c.2560A>G (p.Met854Val)	CDC42BPG (M854V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2465104	NM_017525.3(CDC42BPG):c.2728G>C (p.Asp910His)	CDC42BPG (D910H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2464620	NM_017525.3(CDC42BPG):c.1507G>A (p.Ala503Thr)	CDC42BPG (A503T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2461133	NM_017525.3(CDC42BPG):c.3650G>A (p.Arg1217His)	CDC42BPG (R1217H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2456724	NM_017525.3(CDC42BPG):c.4138A>G (p.Asn1380Asp)	CDC42BPG (N1380D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2456317	NM_017525.3(CDC42BPG):c.2827G>A (p.Glu943Lys)	CDC42BPG (E943K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2425028	NC_000011.9:g.(?_58916346)_(64972349_?)dup	AHNAK, ARL2 +182 more	Duplication	Leukocyte adhesion deficiency 3	GUncertain significance
Select item 2410233	NM_017525.3(CDC42BPG):c.1901C>T (p.Ala634Val)	CDC42BPG (A634V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2409457	NM_017525.3(CDC42BPG):c.1348C>T (p.Arg450Trp)	CDC42BPG (R450W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2408548	NM_017525.3(CDC42BPG):c.2960G>C (p.Arg987Thr)	CDC42BPG (R987T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2401024	NM_017525.3(CDC42BPG):c.2905G>A (p.Val969Met)	CDC42BPG (V969M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2393804	NM_017525.3(CDC42BPG):c.3578C>T (p.Pro1193Leu)	CDC42BPG (P1193L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2390156	NM_017525.3(CDC42BPG):c.3011C>T (p.Pro1004Leu)	CDC42BPG (P1004L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2386964	NM_017525.3(CDC42BPG):c.958G>A (p.Glu320Lys)	CDC42BPG (E320K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2386272	NM_017525.3(CDC42BPG):c.2537C>T (p.Pro846Leu)	CDC42BPG (P846L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2384486	NM_017525.3(CDC42BPG):c.4082C>G (p.Pro1361Arg)	CDC42BPG (P1361R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2384216	NM_017525.3(CDC42BPG):c.3140T>G (p.Leu1047Arg)	CDC42BPG (L1047R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2382831	NM_017525.3(CDC42BPG):c.1697G>A (p.Arg566Gln)	CDC42BPG (R566Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2379803	NM_017525.3(CDC42BPG):c.4465C>G (p.Arg1489Gly)	CDC42BPG (R1489G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2375728	NM_017525.3(CDC42BPG):c.631C>A (p.Leu211Met)	CDC42BPG (L211M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2373029	NM_017525.3(CDC42BPG):c.2513A>G (p.His838Arg)	CDC42BPG (H838R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2367801	NM_017525.3(CDC42BPG):c.1330C>T (p.Arg444Trp)	CDC42BPG (R444W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2364696	NM_017525.3(CDC42BPG):c.2644C>T (p.Arg882Cys)	CDC42BPG (R882C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2362971	NM_017525.3(CDC42BPG):c.2011C>T (p.Arg671Trp)	CDC42BPG (R671W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2358850	NM_017525.3(CDC42BPG):c.2009G>A (p.Arg670Gln)	CDC42BPG (R670Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2352150	NM_017525.3(CDC42BPG):c.466C>G (p.Leu156Val)	CDC42BPG (L156V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2350410	NM_017525.3(CDC42BPG):c.3571C>G (p.Arg1191Gly)	CDC42BPG (R1191G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2350409	NM_017525.3(CDC42BPG):c.1706C>T (p.Thr569Met)	CDC42BPG (T569M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2345703	NM_017525.3(CDC42BPG):c.1940G>A (p.Arg647Gln)	CDC42BPG (R647Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2339031	NM_017525.3(CDC42BPG):c.1850G>A (p.Arg617Gln)	CDC42BPG (R617Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2335430	NM_017525.3(CDC42BPG):c.1417A>G (p.Thr473Ala)	CDC42BPG (T473A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2334360	NM_017525.3(CDC42BPG):c.4580C>G (p.Pro1527Arg)	CDC42BPG (P1527R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2328146	NM_017525.3(CDC42BPG):c.3359G>A (p.Arg1120His)	CDC42BPG (R1120H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2322576	NM_017525.3(CDC42BPG):c.4384T>A (p.Ser1462Thr)	CDC42BPG (S1462T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2318831	NM_017525.3(CDC42BPG):c.3045T>A (p.Asp1015Glu)	CDC42BPG (D1015E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2314643	NM_017525.3(CDC42BPG):c.3631G>A (p.Gly1211Ser)	CDC42BPG (G1211S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2312079	NM_017525.3(CDC42BPG):c.2804G>A (p.Arg935His)	CDC42BPG (R935H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2309784	NM_017525.3(CDC42BPG):c.98A>C (p.His33Pro)	CDC42BPG, LOC130005961 (H33P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2309530	NM_017525.3(CDC42BPG):c.1732C>T (p.Arg578Cys)	CDC42BPG (R578C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2308059	NM_017525.3(CDC42BPG):c.350G>C (p.Arg117Pro)	CDC42BPG (R117P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2307611	NM_017525.3(CDC42BPG):c.2553C>G (p.Ser851Arg)	CDC42BPG (S851R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2301112	NM_017525.3(CDC42BPG):c.4177C>T (p.Leu1393Phe)	CDC42BPG (L1393F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2300882	NM_017525.3(CDC42BPG):c.3446G>A (p.Cys1149Tyr)	CDC42BPG (C1149Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2298381	NM_017525.3(CDC42BPG):c.2531T>A (p.Leu844Gln)	CDC42BPG (L844Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2296149	NM_017525.3(CDC42BPG):c.750G>C (p.Lys250Asn)	CDC42BPG (K250N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2293214	NM_017525.3(CDC42BPG):c.208G>T (p.Asp70Tyr)	CDC42BPG (D70Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2284918	NM_017525.3(CDC42BPG):c.3038C>T (p.Ala1013Val)	CDC42BPG (A1013V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2277432	NM_017525.3(CDC42BPG):c.953G>T (p.Arg318Leu)	CDC42BPG (R318L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2272188	NM_017525.3(CDC42BPG):c.2374G>A (p.Ala792Thr)	CDC42BPG (A792T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2268738	NM_017525.3(CDC42BPG):c.2798T>A (p.Leu933His)	CDC42BPG (L933H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2268737	NM_017525.3(CDC42BPG):c.2797C>G (p.Leu933Val)	CDC42BPG (L933V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2262499	NM_017525.3(CDC42BPG):c.3112C>G (p.Pro1038Ala)	CDC42BPG (P1038A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2259480	NM_017525.3(CDC42BPG):c.1450G>A (p.Asp484Asn)	CDC42BPG (D484N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2259043	NM_017525.3(CDC42BPG):c.554C>T (p.Ser185Leu)	CDC42BPG (S185L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2259042	NM_017525.3(CDC42BPG):c.4051G>A (p.Val1351Met)	CDC42BPG (V1351M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2251919	NM_017525.3(CDC42BPG):c.3086G>A (p.Arg1029Lys)	CDC42BPG (R1029K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2249044	NM_017525.3(CDC42BPG):c.3653G>A (p.Arg1218His)	CDC42BPG (R1218H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2233020	NM_017525.3(CDC42BPG):c.1937G>T (p.Ser646Ile)	CDC42BPG (S646I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2232523	NM_017525.3(CDC42BPG):c.1732C>G (p.Arg578Gly)	CDC42BPG (R578G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2229770	NM_017525.3(CDC42BPG):c.2044G>A (p.Ala682Thr)	CDC42BPG (A682T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2225198	NM_017525.3(CDC42BPG):c.1037C>T (p.Ala346Val)	CDC42BPG (A346V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2219438	NM_017525.3(CDC42BPG):c.3167G>A (p.Arg1056His)	CDC42BPG (R1056H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance

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