C0220687[trait identifier] AND "Genome-Nilou Lab"[submitter] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 1257171	NM_013275.6(ANKRD11):c.7806+82G>T	ANKRD11	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
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 1287366	NM_013275.6(ANKRD11):c.7713+54G>C	ANKRD11	Single nucleotide variant (intron variant)	KBG syndrome +1 more	GBenign
Select item 702085	NM_013275.6(ANKRD11):c.7623G>A (p.Ala2541=)	ANKRD11	Single nucleotide variant (synonymous variant)	KBG syndrome +2 more	GBenign
Select item 1192469	NM_013275.6(ANKRD11):c.7470+72C>T	ANKRD11	Single nucleotide variant (intron variant)	KBG syndrome +1 more	GBenign
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 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 587835	NM_013275.6(ANKRD11):c.7128C>G (p.Asp2376Glu)	ANKRD11 (D2376E)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign
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 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 589152	NM_013275.6(ANKRD11):c.6868C>T (p.Pro2290Ser)	ANKRD11 (P2290S)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign
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 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 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 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
Select item 589705	NM_013275.6(ANKRD11):c.6698G>A (p.Gly2233Glu)	ANKRD11 (G2233E)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign/Likely benign
Select item 766806	NM_013275.6(ANKRD11):c.6597C>G (p.Leu2199=)	ANKRD11	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
Select item 706361	NM_013275.6(ANKRD11):c.6560C>T (p.Pro2187Leu)	ANKRD11 (P2187L)	Single nucleotide variant (missense variant)	KBG syndrome +2 more	GBenign/Likely benign
Select item 588320	NM_013275.6(ANKRD11):c.6497T>G (p.Met2166Arg)	ANKRD11 (M2166R)	Single nucleotide variant (missense variant)	KBG syndrome +2 more	GBenign/Likely benign
Select item 218557	NM_013275.6(ANKRD11):c.6323G>A (p.Gly2108Asp)	ANKRD11 (G2108D)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GBenign/Likely benign
Select item 707101	NM_013275.6(ANKRD11):c.6221A>C (p.Glu2074Ala)	ANKRD11 (E2074A)	Single nucleotide variant (missense variant)	KBG syndrome +2 more	GBenign/Likely benign
Select item 707102	NM_013275.6(ANKRD11):c.6193T>C (p.Phe2065Leu)	ANKRD11 (F2065L)	Single nucleotide variant (missense variant)	KBG syndrome +2 more	GBenign/Likely benign
Select item 587809	NM_013275.6(ANKRD11):c.6176C>A (p.Pro2059His)	ANKRD11 (P2059H)	Single nucleotide variant (missense variant)	KBG syndrome +2 more	GBenign
Select item 585417	NM_013275.6(ANKRD11):c.6140C>G (p.Ala2047Gly)	ANKRD11 (A2047G)	Single nucleotide variant (missense variant)	KBG syndrome +2 more	GBenign/Likely benign
Select item 445802	NM_013275.6(ANKRD11):c.6112A>G (p.Lys2038Glu)	ANKRD11 (K2038E)	Single nucleotide variant (missense variant)	KBG syndrome +2 more	GConflicting classifications of pathogenicity
Select item 707103	NM_013275.6(ANKRD11):c.6111C>G (p.Val2037=)	ANKRD11	Single nucleotide variant (synonymous variant)	KBG syndrome +2 more	GBenign/Likely benign
Select item 376944	NM_013275.6(ANKRD11):c.6106G>A (p.Asp2036Asn)	ANKRD11 (D2036N)	Single nucleotide variant (missense variant)	KBG syndrome +3 more	GBenign/Likely benign
Select item 800193	NM_013275.6(ANKRD11):c.6085G>A (p.Val2029Ile)	ANKRD11 (V2029I)	Single nucleotide variant (missense variant)	KBG syndrome +2 more	GBenign/Likely benign
Select item 585416	NM_013275.6(ANKRD11):c.6084C>T (p.Pro2028=)	ANKRD11	Single nucleotide variant (synonymous variant)	KBG syndrome +2 more	GBenign
Select item 1289788	NM_013275.6(ANKRD11):c.6072G>C (p.Pro2024=)	ANKRD11	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign/Likely benign
Select item 380368	NM_013275.6(ANKRD11):c.6067G>C (p.Ala2023Pro)	ANKRD11 (A2023P)	Single nucleotide variant (missense variant)	KBG syndrome +3 more	GBenign
Select item 589339	NM_013275.6(ANKRD11):c.6065C>T (p.Pro2022Leu)	ANKRD11 (P2022L)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign/Likely benign
Select item 377319	NM_013275.6(ANKRD11):c.6020C>T (p.Pro2007Leu)	ANKRD11 (P2007L)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign/Likely benign
Select item 588218	NM_013275.6(ANKRD11):c.5998C>T (p.Leu2000Phe)	ANKRD11 (L2000F)	Single nucleotide variant (missense variant)	KBG syndrome +2 more	GBenign/Likely benign
Select item 585414	NM_013275.6(ANKRD11):c.5738C>A (p.Thr1913Asn)	ANKRD11 (T1913N)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GBenign/Likely benign
Select item 589099	NM_013275.6(ANKRD11):c.5665A>G (p.Lys1889Glu)	ANKRD11 (K1889E)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GBenign
Select item 210180	NM_013275.6(ANKRD11):c.5661A>G (p.Gln1887=)	ANKRD11	Single nucleotide variant (synonymous variant)	KBG syndrome +3 more	GBenign/Likely benign
Select item 588478	NM_013275.6(ANKRD11):c.5632T>C (p.Ser1878Pro)	ANKRD11, TRAPPC2L (S1878P)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GBenign/Likely benign
Select item 585413	NM_013275.6(ANKRD11):c.5629C>T (p.Pro1877Ser)	ANKRD11 (P1877S)	Single nucleotide variant (missense variant)	KBG syndrome +2 more	GBenign/Likely benign
Select item 587813	NM_013275.6(ANKRD11):c.5625C>T (p.Val1875=)	ANKRD11	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
Select item 767498	NM_013275.6(ANKRD11):c.5586C>T (p.Val1862=)	ANKRD11	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +2 more	GBenign/Likely benign
Select item 588698	NM_013275.6(ANKRD11):c.5578C>T (p.Pro1860Ser)	ANKRD11 (P1860S)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign/Likely benign
Select item 589488	NM_013275.6(ANKRD11):c.5509C>T (p.Pro1837Ser)	ANKRD11 (P1837S)	Single nucleotide variant (missense variant)	KBG syndrome +3 more	GBenign
Select item 717426	NM_013275.6(ANKRD11):c.5481C>G (p.Pro1827=)	ANKRD11	Single nucleotide variant (synonymous variant)	KBG syndrome +2 more	GBenign/Likely benign
Select item 706221	NM_013275.6(ANKRD11):c.5413G>A (p.Val1805Ile)	ANKRD11 (V1805I)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 528452	NM_013275.6(ANKRD11):c.5338G>A (p.Ala1780Thr)	ANKRD11 (A1780T)	Single nucleotide variant (missense variant)	KBG syndrome +2 more	GBenign
Select item 585412	NM_013275.6(ANKRD11):c.5250C>T (p.Thr1750=)	ANKRD11	Single nucleotide variant (synonymous variant)	KBG syndrome +2 more	GBenign/Likely benign
Select item 446827	NM_013275.6(ANKRD11):c.5198C>T (p.Ala1733Val)	ANKRD11 (A1733V)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GBenign/Likely benign
Select item 588026	NM_013275.6(ANKRD11):c.5178C>T (p.Ser1726=)	ANKRD11	Single nucleotide variant (synonymous variant)	KBG syndrome +2 more	GBenign/Likely benign
Select item 445952	NM_013275.6(ANKRD11):c.5088C>G (p.Asp1696Glu)	ANKRD11 (D1696E)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GBenign/Likely benign
Select item 1236031	NM_013275.6(ANKRD11):c.5038C>T (p.Leu1680=)	ANKRD11	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 380367	NM_013275.6(ANKRD11):c.4932G>A (p.Gly1644=)	ANKRD11	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign
Select item 587810	NM_013275.6(ANKRD11):c.4912C>G (p.Pro1638Ala)	ANKRD11 (P1638A)	Single nucleotide variant (missense variant)	KBG syndrome +3 more	GBenign
Select item 774107	NM_013275.6(ANKRD11):c.4884C>T (p.Asp1628=)	ANKRD11	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign
Select item 446826	NM_013275.6(ANKRD11):c.4872G>A (p.Ala1624=)	ANKRD11	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign/Likely benign
Select item 771621	NM_013275.6(ANKRD11):c.4619A>G (p.Lys1540Arg)	ANKRD11 (K1540R)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign/Likely benign
Select item 588112	NM_013275.6(ANKRD11):c.4440T>C (p.His1480=)	ANKRD11	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
Select item 772267	NM_013275.6(ANKRD11):c.4391A>G (p.Lys1464Arg)	ANKRD11 (K1464R)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 585411	NM_013275.6(ANKRD11):c.4344T>C (p.Tyr1448=)	ANKRD11	Single nucleotide variant (synonymous variant)	KBG syndrome +2 more	GBenign
Select item 589023	NM_013275.6(ANKRD11):c.4317G>A (p.Lys1439=)	ANKRD11	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +2 more	GBenign/Likely benign
Select item 707683	NM_013275.6(ANKRD11):c.4236AGA[1] (p.Glu1413del)	ANKRD11 (E1413del)	Microsatellite (inframe_deletion)	KBG syndrome +2 more	GConflicting classifications of pathogenicity
Select item 446079	NM_013275.6(ANKRD11):c.4237G>A (p.Glu1413Lys)	ANKRD11 (E1413K)	Single nucleotide variant (missense variant)	KBG syndrome +2 more	GBenign/Likely benign
Select item 588480	NM_013275.6(ANKRD11):c.4149C>T (p.Gly1383=)	ANKRD11	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +3 more	GBenign/Likely benign
Select item 703704	NM_013275.6(ANKRD11):c.3927G>A (p.Thr1309=)	ANKRD11	Single nucleotide variant (synonymous variant)	KBG syndrome +2 more	GBenign/Likely benign
Select item 588474	NM_013275.6(ANKRD11):c.3826G>A (p.Ala1276Thr)	ANKRD11 (A1276T)	Single nucleotide variant (missense variant)	KBG syndrome +2 more	GBenign/Likely benign
Select item 380366	NM_013275.6(ANKRD11):c.3822C>T (p.Ala1274=)	ANKRD11	Single nucleotide variant (synonymous variant)	KBG syndrome +3 more	GBenign
Select item 585408	NM_013275.6(ANKRD11):c.3660G>A (p.Arg1220=)	ANKRD11	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
Select item 588313	NM_013275.6(ANKRD11):c.3578C>T (p.Ala1193Val)	ANKRD11 (A1193V)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign
Select item 380365	NM_013275.6(ANKRD11):c.3573C>G (p.Ala1191=)	ANKRD11	Single nucleotide variant (synonymous variant)	KBG syndrome +3 more	GBenign
Select item 588624	NM_013275.6(ANKRD11):c.3483C>T (p.Ser1161=)	ANKRD11	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +2 more	GBenign/Likely benign
Select item 703225	NM_013275.6(ANKRD11):c.3431C>T (p.Pro1144Leu)	ANKRD11 (P1144L)	Single nucleotide variant (missense variant)	KBG syndrome +2 more	GBenign/Likely benign
Select item 778772	NM_013275.6(ANKRD11):c.3423C>T (p.Ser1141=)	ANKRD11	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +2 more	GBenign/Likely benign
Select item 377486	NM_013275.6(ANKRD11):c.3162A>G (p.Lys1054=)	ANKRD11	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign
Select item 585405	NM_013275.6(ANKRD11):c.3045C>G (p.Pro1015=)	ANKRD11	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +2 more	GBenign/Likely benign
Select item 587797	NM_013275.6(ANKRD11):c.2912C>T (p.Ala971Val)	ANKRD11 (A971V)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GBenign
Select item 587814	NM_013275.6(ANKRD11):c.2889C>T (p.Asp963=)	ANKRD11	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
Select item 1169489	NM_013275.6(ANKRD11):c.2772C>T (p.Thr924=)	ANKRD11	Single nucleotide variant (synonymous variant)	KBG syndrome +1 more	GBenign
Select item 589530	NM_013275.6(ANKRD11):c.2610C>T (p.Ser870=)	ANKRD11	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
Select item 585404	NM_013275.6(ANKRD11):c.2519G>A (p.Arg840Gln)	ANKRD11 (R840Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GBenign/Likely benign
Select item 434195	NM_013275.6(ANKRD11):c.2505C>T (p.Asp835=)	ANKRD11	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign/Likely benign
Select item 707161	NM_013275.6(ANKRD11):c.2292G>A (p.Glu764=)	ANKRD11	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
Select item 697522	NM_013275.6(ANKRD11):c.2240C>T (p.Ser747Leu)	ANKRD11 (S747L)	Single nucleotide variant (missense variant)	KBG syndrome +3 more	GBenign/Likely benign
Select item 585403	NM_013275.6(ANKRD11):c.2039C>G (p.Thr680Ser)	ANKRD11 (T680S)	Single nucleotide variant (missense variant)	KBG syndrome +2 more	GBenign
Select item 587996	NM_013275.6(ANKRD11):c.1852G>A (p.Ala618Thr)	ANKRD11 (A618T)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign/Likely benign
Select item 588721	NM_013275.6(ANKRD11):c.1851C>T (p.Gly617=)	ANKRD11	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +2 more	GBenign/Likely benign
Select item 585401	NM_013275.6(ANKRD11):c.1844C>G (p.Ala615Gly)	ANKRD11 (A615G)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign/Likely benign
Select item 588770	NM_013275.6(ANKRD11):c.1842C>T (p.Ser614=)	ANKRD11	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +1 more	GBenign/Likely benign
Select item 588655	NM_013275.6(ANKRD11):c.1725C>T (p.Ser575=)	ANKRD11	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
Select item 446825	NM_013275.6(ANKRD11):c.1296G>C (p.Thr432=)	ANKRD11	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign
Select item 1202383	NM_013275.6(ANKRD11):c.1258G>A (p.Val420Met)	ANKRD11 (V420M)	Single nucleotide variant (missense variant)	KBG syndrome +2 more	GBenign/Likely benign
Select item 588646	NM_013275.6(ANKRD11):c.1245C>T (p.Asp415=)	ANKRD11	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
Select item 589606	NM_013275.6(ANKRD11):c.1027G>A (p.Val343Ile)	ANKRD11 (V343I)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GBenign/Likely benign
Select item 585398	NM_013275.6(ANKRD11):c.1020G>A (p.Thr340=)	ANKRD11	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign

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