"PreventionGenetics, part of Exact Sciences"[submitter] AND "ANKRD11"[ - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 429654	NM_013275.6(ANKRD11):c.7814T>G (p.Leu2605Arg)	ANKRD11 (L2605R)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 3030773	NM_013275.6(ANKRD11):c.7807-4G>A	ANKRD11	Single nucleotide variant (intron variant)	ANKRD11-related condition	GLikely benign
Select item 389465	NM_013275.6(ANKRD11):c.7806+4G>A	ANKRD11	Single nucleotide variant (intron variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1760564	NM_013275.6(ANKRD11):c.7776G>A (p.Gln2592=)	ANKRD11	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +2 more	GLikely benign
Select item 2506622	NM_013275.6(ANKRD11):c.7754G>A (p.Arg2585His)	ANKRD11 (R2585H)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 3029000	NM_013275.6(ANKRD11):c.7737C>T (p.Arg2579=)	ANKRD11	Single nucleotide variant (synonymous variant)	ANKRD11-related condition	GLikely 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 3030820	NM_013275.6(ANKRD11):c.7713+2T>C	ANKRD11	Single nucleotide variant (splice donor variant)	ANKRD11-related condition	GLikely pathogenic
Select item 1078591	NM_013275.6(ANKRD11):c.7702C>T (p.Leu2568=)	ANKRD11	Single nucleotide variant (synonymous variant)	ANKRD11-related condition +2 more	GLikely benign
Select item 2508614	NM_013275.6(ANKRD11):c.7682C>G (p.Ser2561Cys)	ANKRD11 (S2561C)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 3036819	NM_013275.6(ANKRD11):c.7659C>T (p.Ser2553=)	ANKRD11	Single nucleotide variant (synonymous variant)	ANKRD11-related condition	GLikely benign
Select item 702085	NM_013275.6(ANKRD11):c.7623G>A (p.Ala2541=)	ANKRD11	Single nucleotide variant (synonymous variant)	ANKRD11-related condition +3 more	GBenign/Likely benign
Select item 3061688	NM_013275.6(ANKRD11):c.7522C>A (p.Gln2508Lys)	ANKRD11 (Q2508K)	Single nucleotide variant (missense variant)	ANKRD11-related condition	GUncertain significance
Select item 3030779	NM_013275.6(ANKRD11):c.7471-4G>A	ANKRD11	Single nucleotide variant (intron variant)	ANKRD11-related condition	GLikely benign
Select item 1246610	NM_013275.6(ANKRD11):c.7368C>T (p.Cys2456=)	ANKRD11	Single nucleotide variant (synonymous variant)	ANKRD11-related condition +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 +3 more	GBenign/Likely benign
Select item 1073378	NM_013275.6(ANKRD11):c.7062dup (p.Ser2355fs)	ANKRD11 (S2355fs)	Duplication (frameshift variant)	ANKRD11-related condition +1 more	GPathogenic
Select item 722991	NM_013275.6(ANKRD11):c.7032C>G (p.Leu2344=)	ANKRD11	Single nucleotide variant (synonymous variant)	ANKRD11-related condition +2 more	GLikely benign
Select item 943335	NM_013275.6(ANKRD11):c.6985G>A (p.Val2329Met)	ANKRD11 (V2329M)	Single nucleotide variant (missense variant)	ANKRD11-related condition +2 more	GLikely benign
Select item 1228814	NM_013275.6(ANKRD11):c.6977C>T (p.Ala2326Val)	ANKRD11 (A2326V)	Single nucleotide variant (missense variant)	KBG syndrome +3 more	GBenign/Likely benign
Select item 3055127	NM_013275.6(ANKRD11):c.6968C>T (p.Ala2323Val)	ANKRD11 (A2323V)	Single nucleotide variant (missense variant)	ANKRD11-related condition	GUncertain significance
Select item 1326648	NM_013275.6(ANKRD11):c.6963C>T (p.Ala2321=)	ANKRD11	Single nucleotide variant (synonymous variant)	ANKRD11-related condition +3 more	GLikely benign
Select item 522263	NM_013275.6(ANKRD11):c.6919C>T (p.Pro2307Ser)	ANKRD11 (P2307S)	Single nucleotide variant (missense variant)	Inborn genetic diseases +8 more	GConflicting classifications of pathogenicity
Select item 2628793	NM_013275.6(ANKRD11):c.6902C>T (p.Ala2301Val)	ANKRD11 (A2301V)	Single nucleotide variant (missense variant)	ANKRD11-related condition +1 more	GUncertain significance
Select item 1205478	NM_013275.6(ANKRD11):c.6899C>T (p.Ala2300Val)	ANKRD11 (A2300V)	Single nucleotide variant (missense variant)	ANKRD11-related condition +3 more	GLikely benign
Select item 3046618	NM_013275.6(ANKRD11):c.6853G>A (p.Ala2285Thr)	ANKRD11 (A2285T)	Single nucleotide variant (missense variant)	ANKRD11-related condition	GUncertain significance
Select item 697952	NM_013275.6(ANKRD11):c.6827C>T (p.Pro2276Leu)	ANKRD11 (P2276L)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GBenign/Likely benign
Select item 589093	NM_013275.6(ANKRD11):c.6826C>T (p.Pro2276Ser)	ANKRD11 (P2276S)	Single nucleotide variant (missense variant)	ANKRD11-related condition +3 more	GBenign/Likely benign
Select item 3031957	NM_013275.6(ANKRD11):c.6817G>A (p.Gly2273Ser)	ANKRD11 (G2273S)	Single nucleotide variant (missense variant)	ANKRD11-related condition	GUncertain significance
Select item 3030603	NM_013275.6(ANKRD11):c.6816C>T (p.Asp2272=)	ANKRD11	Single nucleotide variant (synonymous variant)	ANKRD11-related condition	GLikely benign
Select item 434193	NM_013275.6(ANKRD11):c.6797C>T (p.Ala2266Val)	ANKRD11 (A2266V)	Single nucleotide variant (missense variant)	KBG syndrome +4 more	GLikely benign
Select item 585425	NM_013275.6(ANKRD11):c.6792C>T (p.Pro2264=)	ANKRD11	Single nucleotide variant (synonymous variant)	ANKRD11-related condition +2 more	GLikely benign
Select item 1267775	NM_013275.6(ANKRD11):c.6791C>T (p.Pro2264Leu)	ANKRD11 (P2264L)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign/Likely benign
Select item 585424	NM_013275.6(ANKRD11):c.6746G>A (p.Arg2249His)	ANKRD11 (R2249H)	Single nucleotide variant (missense variant)	Inborn genetic diseases +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 +3 more	GBenign/Likely benign
Select item 585423	NM_013275.6(ANKRD11):c.6725C>T (p.Ala2242Val)	ANKRD11 (A2242V)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GBenign/Likely benign
Select item 585422	NM_013275.6(ANKRD11):c.6712A>G (p.Ser2238Gly)	ANKRD11 (S2238G)	Single nucleotide variant (missense variant)	Inborn genetic diseases +4 more	GLikely benign
Select item 589705	NM_013275.6(ANKRD11):c.6698G>A (p.Gly2233Glu)	ANKRD11 (G2233E)	Single nucleotide variant (missense variant)	ANKRD11-related condition +3 more	GBenign/Likely benign
Select item 766806	NM_013275.6(ANKRD11):c.6597C>G (p.Leu2199=)	ANKRD11	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +3 more	GBenign/Likely benign
Select item 585419	NM_013275.6(ANKRD11):c.6580C>G (p.Gln2194Glu)	ANKRD11 (Q2194E)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GConflicting classifications of pathogenicity
Select item 706361	NM_013275.6(ANKRD11):c.6560C>T (p.Pro2187Leu)	ANKRD11 (P2187L)	Single nucleotide variant (missense variant)	ANKRD11-related condition +3 more	GBenign/Likely benign
Select item 2632984	NM_013275.6(ANKRD11):c.6524A>G (p.Asn2175Ser)	ANKRD11 (N2175S)	Single nucleotide variant (missense variant)	ANKRD11-related condition	GUncertain significance
Select item 1753798	NM_013275.6(ANKRD11):c.6489A>G (p.Pro2163=)	ANKRD11	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +1 more	GBenign
Select item 1753779	NM_013275.6(ANKRD11):c.6484C>T (p.Pro2162Ser)	ANKRD11 (P2162S)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GBenign
Select item 2012832	NM_013275.6(ANKRD11):c.6426C>T (p.Pro2142=)	ANKRD11	Single nucleotide variant (synonymous variant)	ANKRD11-related condition +1 more	GLikely benign
Select item 2630961	NM_013275.6(ANKRD11):c.6401_6422dup (p.Pro2142fs)	ANKRD11 (P2142fs)	Duplication (frameshift variant)	ANKRD11-related condition	GPathogenic
Select item 587872	NM_013275.6(ANKRD11):c.6366C>T (p.Asp2122=)	ANKRD11	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +3 more	GLikely benign
Select item 2628687	NM_013275.6(ANKRD11):c.6279G>C (p.Glu2093Asp)	ANKRD11 (E2093D)	Single nucleotide variant (missense variant)	ANKRD11-related condition	GUncertain significance
Select item 771660	NM_013275.6(ANKRD11):c.6261C>T (p.Ala2087=)	ANKRD11	Single nucleotide variant (synonymous variant)	not provided +3 more	GLikely benign
Select item 707101	NM_013275.6(ANKRD11):c.6221A>C (p.Glu2074Ala)	ANKRD11 (E2074A)	Single nucleotide variant (missense variant)	ANKRD11-related condition +3 more	GBenign/Likely benign
Select item 1752229	NM_013275.6(ANKRD11):c.6212C>T (p.Ser2071Leu)	ANKRD11 (S2071L)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GLikely benign
Select item 1191320	NM_013275.6(ANKRD11):c.6201C>T (p.Ser2067=)	ANKRD11	Single nucleotide variant (synonymous variant)	ANKRD11-related condition +2 more	GBenign/Likely benign
Select item 707102	NM_013275.6(ANKRD11):c.6193T>C (p.Phe2065Leu)	ANKRD11 (F2065L)	Single nucleotide variant (missense variant)	ANKRD11-related condition +3 more	GBenign/Likely benign
Select item 3032642	NM_013275.6(ANKRD11):c.6171C>T (p.Ala2057=)	ANKRD11	Single nucleotide variant (synonymous variant)	ANKRD11-related condition	GLikely benign
Select item 2439090	NM_013275.6(ANKRD11):c.6115G>A (p.Asp2039Asn)	ANKRD11 (D2039N)	Single nucleotide variant (missense variant)	ANKRD11-related condition +2 more	GConflicting classifications of pathogenicity
Select item 445802	NM_013275.6(ANKRD11):c.6112A>G (p.Lys2038Glu)	ANKRD11 (K2038E)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 707103	NM_013275.6(ANKRD11):c.6111C>G (p.Val2037=)	ANKRD11	Single nucleotide variant (synonymous variant)	ANKRD11-related condition +3 more	GBenign/Likely benign
Select item 800193	NM_013275.6(ANKRD11):c.6085G>A (p.Val2029Ile)	ANKRD11 (V2029I)	Single nucleotide variant (missense variant)	not provided +3 more	GBenign/Likely benign
Select item 377319	NM_013275.6(ANKRD11):c.6020C>T (p.Pro2007Leu)	ANKRD11 (P2007L)	Single nucleotide variant (missense variant)	KBG syndrome +3 more	GBenign/Likely benign
Select item 3054871	NM_013275.6(ANKRD11):c.6009C>T (p.Ala2003=)	ANKRD11	Single nucleotide variant (synonymous variant)	ANKRD11-related condition	GLikely benign
Select item 2631905	NM_013275.6(ANKRD11):c.6001C>A (p.His2001Asn)	ANKRD11 (H2001N)	Single nucleotide variant (missense variant)	ANKRD11-related condition	GUncertain significance
Select item 3010154	NM_013275.6(ANKRD11):c.5908C>A (p.Pro1970Thr)	ANKRD11 (P1970T)	Single nucleotide variant (missense variant)	KBG syndrome +1 more	GBenign/Likely benign
Select item 2880321	NM_013275.6(ANKRD11):c.5877C>T (p.Ala1959=)	ANKRD11	Single nucleotide variant (synonymous variant)	KBG syndrome +1 more	GBenign/Likely benign
Select item 2631544	NM_013275.6(ANKRD11):c.5810dup (p.Pro1938fs)	ANKRD11 (P1938fs)	Duplication (frameshift variant)	ANKRD11-related condition	GLikely pathogenic
Select item 2301443	NM_013275.6(ANKRD11):c.5810G>A (p.Gly1937Asp)	ANKRD11 (G1937D)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1696939	NM_013275.6(ANKRD11):c.5766C>T (p.Ala1922=)	ANKRD11	Single nucleotide variant (synonymous variant)	not provided +3 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 +3 more	GBenign/Likely benign
Select item 3061531	NM_013275.6(ANKRD11):c.5637A>C (p.Pro1879=)	ANKRD11	Single nucleotide variant (synonymous variant)	ANKRD11-related condition	GLikely benign
Select item 588478	NM_013275.6(ANKRD11):c.5632T>C (p.Ser1878Pro)	ANKRD11, TRAPPC2L (S1878P)	Single nucleotide variant (missense variant)	not provided +4 more	GBenign/Likely benign
Select item 588698	NM_013275.6(ANKRD11):c.5578C>T (p.Pro1860Ser)	ANKRD11 (P1860S)	Single nucleotide variant (missense variant)	ANKRD11-related condition +3 more	GBenign/Likely benign
Select item 589488	NM_013275.6(ANKRD11):c.5509C>T (p.Pro1837Ser)	ANKRD11 (P1837S)	Single nucleotide variant (missense variant)	Inborn genetic diseases +4 more	GBenign
Select item 717426	NM_013275.6(ANKRD11):c.5481C>G (p.Pro1827=)	ANKRD11	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign/Likely benign
Select item 1747685	NM_013275.6(ANKRD11):c.5464G>A (p.Asp1822Asn)	ANKRD11 (D1822N)	Single nucleotide variant (missense variant)	ANKRD11-related condition +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 +2 more	GBenign/Likely benign
Select item 725632	NM_013275.6(ANKRD11):c.5355A>G (p.Thr1785=)	ANKRD11	Single nucleotide variant (synonymous variant)	ANKRD11-related condition +1 more	GLikely benign
Select item 528452	NM_013275.6(ANKRD11):c.5338G>A (p.Ala1780Thr)	ANKRD11 (A1780T)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GBenign
Select item 1215318	NM_013275.6(ANKRD11):c.5216G>A (p.Cys1739Tyr)	ANKRD11 (C1739Y)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 446827	NM_013275.6(ANKRD11):c.5198C>T (p.Ala1733Val)	ANKRD11 (A1733V)	Single nucleotide variant (missense variant)	KBG syndrome +4 more	GBenign/Likely benign
Select item 588270	NM_013275.6(ANKRD11):c.5112C>A (p.Pro1704=)	ANKRD11	Single nucleotide variant (synonymous variant)	ANKRD11-related condition +2 more	GLikely benign
Select item 445952	NM_013275.6(ANKRD11):c.5088C>G (p.Asp1696Glu)	ANKRD11 (D1696E)	Single nucleotide variant (missense variant)	KBG syndrome +3 more	GBenign/Likely benign
Select item 2503457	NM_013275.6(ANKRD11):c.4964_4965del (p.Lys1655fs)	ANKRD11 (K1655fs)	Deletion (frameshift variant)	ANKRD11-related condition +1 more	GPathogenic
Select item 733773	NM_013275.6(ANKRD11):c.4929G>C (p.Pro1643=)	ANKRD11	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +2 more	GLikely benign
Select item 774107	NM_013275.6(ANKRD11):c.4884C>T (p.Asp1628=)	ANKRD11	Single nucleotide variant (synonymous variant)	KBG syndrome +3 more	GBenign/Likely benign
Select item 3045885	NM_013275.6(ANKRD11):c.4833G>A (p.Leu1611=)	ANKRD11	Single nucleotide variant (synonymous variant)	ANKRD11-related condition	GLikely benign
Select item 3036786	NM_013275.6(ANKRD11):c.4725C>T (p.Asp1575=)	ANKRD11	Single nucleotide variant (synonymous variant)	ANKRD11-related condition	GLikely benign
Select item 3030633	NM_013275.6(ANKRD11):c.4668G>A (p.Ala1556=)	ANKRD11	Single nucleotide variant (synonymous variant)	ANKRD11-related condition	GLikely benign
Select item 771621	NM_013275.6(ANKRD11):c.4619A>G (p.Lys1540Arg)	ANKRD11 (K1540R)	Single nucleotide variant (missense variant)	not provided +3 more	GBenign/Likely benign
Select item 3029899	NM_013275.6(ANKRD11):c.4596G>A (p.Glu1532=)	ANKRD11	Single nucleotide variant (synonymous variant)	ANKRD11-related condition	GLikely benign
Select item 772792	NM_013275.6(ANKRD11):c.4475_4498del (p.1484_1491LLRHHRDE[1])	ANKRD11	Deletion (inframe_deletion)	Inborn genetic diseases +2 more	GLikely benign
Select item 2769072	NM_013275.6(ANKRD11):c.4452G>C (p.Leu1484=)	ANKRD11	Single nucleotide variant (synonymous variant)	KBG syndrome +1 more	GLikely benign
Select item 2637105	NM_013275.6(ANKRD11):c.4411G>A (p.Asp1471Asn)	ANKRD11 (D1471N)	Single nucleotide variant (missense variant)	ANKRD11-related condition	GUncertain significance
Select item 3036390	NM_013275.6(ANKRD11):c.4383G>A (p.Lys1461=)	ANKRD11	Single nucleotide variant (synonymous variant)	ANKRD11-related condition	GLikely benign
Select item 2630402	NM_013275.6(ANKRD11):c.4345_4346del (p.Gly1449fs)	ANKRD11 (G1449fs)	Deletion (frameshift variant)	ANKRD11-related condition	GPathogenic
Select item 2632194	NM_013275.6(ANKRD11):c.4337A>G (p.Lys1446Arg)	ANKRD11 (K1446R)	Single nucleotide variant (missense variant)	ANKRD11-related condition	GUncertain significance
Select item 707683	NM_013275.6(ANKRD11):c.4236AGA[1] (p.Glu1413del)	ANKRD11 (E1413del)	Microsatellite (inframe_deletion)	ANKRD11-related condition +3 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 +3 more	GBenign/Likely benign
Select item 377179	NM_013275.6(ANKRD11):c.4235T>C (p.Ile1412Thr)	ANKRD11 (I1412T)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GLikely benign
Select item 995810	NM_013275.6(ANKRD11):c.4218C>A (p.Tyr1406Ter)	ANKRD11 (Y1406*)	Single nucleotide variant (nonsense)	ANKRD11-related condition +2 more	GPathogenic
Select item 2636687	NM_013275.6(ANKRD11):c.4199A>G (p.Asp1400Gly)	ANKRD11 (D1400G)	Single nucleotide variant (missense variant)	ANKRD11-related condition	GUncertain significance
Select item 588480	NM_013275.6(ANKRD11):c.4149C>T (p.Gly1383=)	ANKRD11	Single nucleotide variant (synonymous variant)	not specified +4 more	GBenign/Likely benign

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