"Ambry Genetics"[submitter] AND "ANKRD11"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3122653	NM_013275.6(ANKRD11):c.7953G>A (p.Met2651Ile)	ANKRD11 (M2651I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1761334	NM_013275.6(ANKRD11):c.7944C>T (p.Tyr2648=)	ANKRD11	Single nucleotide variant (synonymous variant)	KBG syndrome +1 more	GLikely benign
Select item 1761253	NM_013275.6(ANKRD11):c.7929G>C (p.Glu2643Asp)	ANKRD11 (E2643D)	Single nucleotide variant (missense variant)	KBG syndrome +1 more	GUncertain significance
Select item 742972	NM_013275.6(ANKRD11):c.7887G>A (p.Gln2629=)	ANKRD11	Single nucleotide variant (synonymous variant)	KBG syndrome +1 more	GLikely benign
Select item 1761011	NM_013275.6(ANKRD11):c.7881G>A (p.Lys2627=)	ANKRD11	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 986142	NM_013275.6(ANKRD11):c.7873C>T (p.Gln2625Ter)	ANKRD11 (Q2625*)	Single nucleotide variant (nonsense)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 1188125	NM_013275.6(ANKRD11):c.7848G>C (p.Leu2616=)	ANKRD11	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +2 more	GLikely benign
Select item 589562	NM_013275.6(ANKRD11):c.7847T>C (p.Leu2616Pro)	ANKRD11 (L2616P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 589763	NM_013275.6(ANKRD11):c.7839C>G (p.Ala2613=)	ANKRD11	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +2 more	GBenign/Likely benign
Select item 208708	NM_013275.6(ANKRD11):c.7825C>T (p.Gln2609Ter)	ANKRD11 (Q2609*)	Single nucleotide variant (nonsense)	Inborn genetic diseases +1 more	GPathogenic
Select item 589781	NM_013275.6(ANKRD11):c.7799G>A (p.Arg2600His)	ANKRD11 (R2600H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1760564	NM_013275.6(ANKRD11):c.7776G>A (p.Gln2592=)	ANKRD11	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +1 more	GLikely benign
Select item 1760427	NM_013275.6(ANKRD11):c.7749C>T (p.Asn2583=)	ANKRD11	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +1 more	GLikely benign
Select item 1760376	NM_013275.6(ANKRD11):c.7736G>A (p.Arg2579His)	ANKRD11 (R2579H)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 589684	NM_013275.6(ANKRD11):c.7731A>C (p.Ser2577=)	ANKRD11	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +2 more	GBenign/Likely benign
Select item 1223522	NM_013275.6(ANKRD11):c.7714-3C>A	ANKRD11	Single nucleotide variant (intron variant)	KBG syndrome +3 more	GConflicting classifications of pathogenicity
Select item 1294202	NM_013275.6(ANKRD11):c.7695C>T (p.Asn2565=)	ANKRD11	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 767087	NM_013275.6(ANKRD11):c.7683C>T (p.Ser2561=)	ANKRD11	Single nucleotide variant (synonymous variant)	KBG syndrome +2 more	GLikely benign
Select item 2508614	NM_013275.6(ANKRD11):c.7682C>G (p.Ser2561Cys)	ANKRD11 (S2561C)	Single nucleotide variant (missense variant)	KBG syndrome +2 more	GConflicting classifications of pathogenicity
Select item 588993	NM_013275.6(ANKRD11):c.7677G>A (p.Leu2559=)	ANKRD11	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +1 more	GLikely benign
Select item 589750	NM_013275.6(ANKRD11):c.7671G>A (p.Met2557Ile)	ANKRD11 (M2557I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1759822	NM_013275.6(ANKRD11):c.7617C>T (p.Cys2539=)	ANKRD11	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +1 more	GLikely benign
Select item 1341546	NM_013275.6(ANKRD11):c.7606C>T (p.Arg2536Trp)	ANKRD11 (R2536W)	Single nucleotide variant (missense variant)	KBG syndrome +2 more	GPathogenic/Likely pathogenic
Select item 208695	NM_013275.6(ANKRD11):c.7569+1G>A	ANKRD11	Single nucleotide variant (splice donor variant)	not provided +1 more	GPathogenic
Select item 932137	NM_013275.6(ANKRD11):c.7535G>A (p.Arg2512Gln)	ANKRD11 (R2512Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GPathogenic/Likely pathogenic
Select item 985348	NM_013275.6(ANKRD11):c.7534C>T (p.Arg2512Trp)	ANKRD11 (R2512W)	Single nucleotide variant (missense variant)	Sudden unexplained death in childhood +3 more	GPathogenic/Likely pathogenic
Select item 703769	NM_013275.6(ANKRD11):c.7530C>T (p.Ala2510=)	ANKRD11	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +2 more	GLikely benign
Select item 376961	NM_013275.6(ANKRD11):c.7519C>A (p.Gln2507Lys)	ANKRD11 (Q2507K)	Single nucleotide variant (missense variant)	KBG syndrome +2 more	GConflicting classifications of pathogenicity
Select item 957390	NM_013275.6(ANKRD11):c.7494G>A (p.Ala2498=)	ANKRD11	Single nucleotide variant (synonymous variant)	KBG syndrome +1 more	GLikely benign
Select item 3122634	NM_013275.6(ANKRD11):c.7487_7490dup (p.Ala2498fs)	ANKRD11 (A2498fs)	Microsatellite (frameshift variant)	Inborn genetic diseases	GPathogenic
Select item 1759067	NM_013275.6(ANKRD11):c.7473C>T (p.Ile2491=)	ANKRD11	Single nucleotide variant (synonymous variant)	KBG syndrome +1 more	GLikely benign
Select item 3122632	NM_013275.6(ANKRD11):c.7470+2dup	ANKRD11	Duplication (splice donor variant)	Inborn genetic diseases	GPathogenic
Select item 1758817	NM_013275.6(ANKRD11):c.7419G>A (p.Thr2473=)	ANKRD11	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 2301325	NM_013275.6(ANKRD11):c.7388C>G (p.Pro2463Arg)	ANKRD11 (P2463R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely pathogenic
Select item 2301485	NM_013275.6(ANKRD11):c.7370G>T (p.Cys2457Phe)	ANKRD11 (C2457F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 522007	NM_013275.6(ANKRD11):c.7327C>T (p.Gln2443Ter)	ANKRD11 (Q2443*)	Single nucleotide variant (nonsense)	Inborn genetic diseases +1 more	GPathogenic
Select item 589080	NM_013275.6(ANKRD11):c.7324C>T (p.Leu2442=)	ANKRD11	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
Select item 3122624	NM_013275.6(ANKRD11):c.7309C>T (p.Pro2437Ser)	ANKRD11 (P2437S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 522113	NM_013275.6(ANKRD11):c.7303del (p.Ala2435fs)	ANKRD11 (A2435fs)	Deletion (frameshift variant)	Inborn genetic diseases	GPathogenic
Select item 588623	NM_013275.6(ANKRD11):c.7296C>T (p.Ser2432=)	ANKRD11	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
Select item 708825	NM_013275.6(ANKRD11):c.7290C>T (p.Tyr2430=)	ANKRD11	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 2312938	NM_013275.6(ANKRD11):c.7244_7247del (p.Leu2415fs)	ANKRD11 (L2415fs)	Deletion (frameshift variant)	not provided +1 more	GPathogenic
Select item 2229022	NM_013275.6(ANKRD11):c.7207T>A (p.Ser2403Thr)	ANKRD11 (S2403T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 588960	NM_013275.6(ANKRD11):c.7198_7200dup (p.Leu2400dup)	ANKRD11	Duplication (inframe_insertion)	KBG syndrome +2 more	GUncertain significance
Select item 1757550	NM_013275.6(ANKRD11):c.7182G>A (p.Gln2394=)	ANKRD11	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 589257	NM_013275.6(ANKRD11):c.7167T>G (p.Phe2389Leu)	ANKRD11 (F2389L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2619729	NM_013275.6(ANKRD11):c.7162C>T (p.Arg2388Cys)	ANKRD11 (R2388C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 721754	NM_013275.6(ANKRD11):c.7131C>T (p.Asp2377=)	ANKRD11	Single nucleotide variant (synonymous variant)	KBG syndrome +2 more	GLikely benign
Select item 1757288	NM_013275.6(ANKRD11):c.7128C>T (p.Asp2376=)	ANKRD11	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 587835	NM_013275.6(ANKRD11):c.7128C>G (p.Asp2376Glu)	ANKRD11 (D2376E)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign
Select item 862455	NM_013275.6(ANKRD11):c.7111G>T (p.Ala2371Ser)	ANKRD11 (A2371S)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1031773	NM_013275.6(ANKRD11):c.7103G>A (p.Arg2368Lys)	ANKRD11 (R2368K)	Single nucleotide variant (missense variant)	KBG syndrome +1 more	GUncertain significance
Select item 1757123	NM_013275.6(ANKRD11):c.7098C>G (p.Val2366=)	ANKRD11	Single nucleotide variant (synonymous variant)	KBG syndrome +1 more	GLikely benign
Select item 2313094	NM_013275.6(ANKRD11):c.7091C>G (p.Ala2364Gly)	ANKRD11 (A2364G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 588578	NM_013275.6(ANKRD11):c.7090G>A (p.Ala2364Thr)	ANKRD11 (A2364T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 588871	NM_013275.6(ANKRD11):c.7087C>G (p.Pro2363Ala)	ANKRD11 (P2363A)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 2390631	NM_013275.6(ANKRD11):c.7073A>G (p.Glu2358Gly)	ANKRD11 (E2358G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1686450	NM_013275.6(ANKRD11):c.7061C>A (p.Pro2354His)	ANKRD11 (P2354H)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 2496298	NM_013275.6(ANKRD11):c.7058C>T (p.Pro2353Leu)	ANKRD11 (P2353L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2281010	NM_013275.6(ANKRD11):c.7055C>A (p.Pro2352Gln)	ANKRD11 (P2352Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1756898	NM_013275.6(ANKRD11):c.7053C>G (p.Gly2351=)	ANKRD11	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 722991	NM_013275.6(ANKRD11):c.7032C>G (p.Leu2344=)	ANKRD11	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +1 more	GLikely benign
Select item 589210	NM_013275.6(ANKRD11):c.6985G>C (p.Val2329Leu)	ANKRD11 (V2329L)	Single nucleotide variant (missense variant)	KBG syndrome +1 more	GUncertain significance
Select item 706452	NM_013275.6(ANKRD11):c.6978C>T (p.Ala2326=)	ANKRD11	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +2 more	GBenign/Likely benign
Select item 1228814	NM_013275.6(ANKRD11):c.6977C>T (p.Ala2326Val)	ANKRD11 (A2326V)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign/Likely benign
Select item 804532	NM_013275.6(ANKRD11):c.6977C>G (p.Ala2326Gly)	ANKRD11 (A2326G)	Single nucleotide variant (missense variant)	KBG syndrome +2 more	GBenign/Likely benign
Select item 1756349	NM_013275.6(ANKRD11):c.6969C>A (p.Ala2323=)	ANKRD11	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 1326648	NM_013275.6(ANKRD11):c.6963C>T (p.Ala2321=)	ANKRD11	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +2 more	GLikely benign
Select item 2481157	NM_013275.6(ANKRD11):c.6952A>G (p.Lys2318Glu)	ANKRD11 (K2318E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1756129	NM_013275.6(ANKRD11):c.6911_6936del (p.Glu2304fs)	ANKRD11 (E2304fs)	Deletion (frameshift variant)	Inborn genetic diseases	GPathogenic
Select item 588090	NM_013275.6(ANKRD11):c.6924C>T (p.Gly2308=)	ANKRD11	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +2 more	GBenign/Likely benign
Select item 522263	NM_013275.6(ANKRD11):c.6919C>T (p.Pro2307Ser)	ANKRD11 (P2307S)	Single nucleotide variant (missense variant)	KBG syndrome +7 more	GConflicting classifications of pathogenicity
Select item 1756131	NM_013275.6(ANKRD11):c.6912A>G (p.Glu2304=)	ANKRD11	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 1699269	NM_013275.6(ANKRD11):c.6910G>A (p.Glu2304Lys)	ANKRD11 (E2304K)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 1756091	NM_013275.6(ANKRD11):c.6909C>G (p.Ala2303=)	ANKRD11	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +1 more	GLikely benign
Select item 1205478	NM_013275.6(ANKRD11):c.6899C>T (p.Ala2300Val)	ANKRD11 (A2300V)	Single nucleotide variant (missense variant)	KBG syndrome +2 more	GLikely benign
Select item 1204729	NM_013275.6(ANKRD11):c.6896C>T (p.Ala2299Val)	ANKRD11 (A2299V)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 2209095	NM_013275.6(ANKRD11):c.6890C>T (p.Ser2297Phe)	ANKRD11 (S2297F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 589152	NM_013275.6(ANKRD11):c.6868C>T (p.Pro2290Ser)	ANKRD11 (P2290S)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign
Select item 441154	NM_013275.6(ANKRD11):c.6847C>T (p.Gln2283Ter)	ANKRD11 (Q2283*)	Single nucleotide variant (nonsense)	Inborn genetic diseases +1 more	GPathogenic
Select item 2487591	NM_013275.6(ANKRD11):c.6845C>G (p.Ala2282Gly)	ANKRD11 (A2282G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 697952	NM_013275.6(ANKRD11):c.6827C>T (p.Pro2276Leu)	ANKRD11 (P2276L)	Single nucleotide variant (missense variant)	KBG syndrome +2 more	GBenign/Likely benign
Select item 589093	NM_013275.6(ANKRD11):c.6826C>T (p.Pro2276Ser)	ANKRD11 (P2276S)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign/Likely benign
Select item 1755655	NM_013275.6(ANKRD11):c.6824C>T (p.Ala2275Val)	ANKRD11 (A2275V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1755597	NM_013275.6(ANKRD11):c.6819C>T (p.Gly2273=)	ANKRD11	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 3005100	NM_013275.6(ANKRD11):c.6818G>C (p.Gly2273Ala)	ANKRD11 (G2273A)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 434193	NM_013275.6(ANKRD11):c.6797C>T (p.Ala2266Val)	ANKRD11 (A2266V)	Single nucleotide variant (missense variant)	not specified +3 more	GLikely benign
Select item 521294	NM_013275.6(ANKRD11):c.6792dup (p.Ala2265fs)	ANKRD11 (A2265fs)	Duplication (frameshift variant)	not provided +2 more	GPathogenic
Select item 380369	NM_013275.6(ANKRD11):c.6787C>T (p.Pro2263Ser)	ANKRD11 (P2263S)	Single nucleotide variant (missense variant)	KBG syndrome +3 more	GBenign
Select item 589743	NM_013275.6(ANKRD11):c.6781G>A (p.Glu2261Lys)	ANKRD11 (E2261K)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign
Select item 2166658	NM_013275.6(ANKRD11):c.6772G>A (p.Ala2258Thr)	ANKRD11 (A2258T)	Single nucleotide variant (missense variant)	KBG syndrome +2 more	GUncertain significance
Select item 2738836	NM_013275.6(ANKRD11):c.6766C>G (p.Gln2256Glu)	ANKRD11 (Q2256E)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 718635	NM_013275.6(ANKRD11):c.6760G>A (p.Gly2254Arg)	ANKRD11 (G2254R)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 3122565	NM_013275.6(ANKRD11):c.6752T>C (p.Leu2251Pro)	ANKRD11 (L2251P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 585424	NM_013275.6(ANKRD11):c.6746G>A (p.Arg2249His)	ANKRD11 (R2249H)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GBenign/Likely benign
Select item 445313	NM_013275.6(ANKRD11):c.6745C>T (p.Arg2249Cys)	ANKRD11 (R2249C)	Single nucleotide variant (missense variant)	not provided +3 more	GBenign/Likely benign
Select item 1700803	NM_013275.6(ANKRD11):c.6734C>G (p.Pro2245Arg)	ANKRD11 (P2245R)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2903857	NM_013275.6(ANKRD11):c.6733C>A (p.Pro2245Thr)	ANKRD11 (P2245T)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 705209	NM_013275.6(ANKRD11):c.6730G>A (p.Val2244Ile)	ANKRD11 (V2244I)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GBenign/Likely benign
Select item 585423	NM_013275.6(ANKRD11):c.6725C>T (p.Ala2242Val)	ANKRD11 (A2242V)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign/Likely benign

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