Related gene-specific medical variations for Gene (Select 29123) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3362508	NM_013275.6(ANKRD11):c.6295G>T (p.Glu2099Ter)	ANKRD11 (E2099*)	Single nucleotide variant (nonsense)	KBG syndrome	GLikely pathogenic
Select item 3362507	NM_013275.6(ANKRD11):c.3382_3383del (p.Asp1128fs)	ANKRD11 (D1128fs)	Microsatellite (frameshift variant)	KBG syndrome	GLikely pathogenic
Select item 3362061	NM_013275.6(ANKRD11):c.1358A>C (p.Lys453Thr)	ANKRD11 (K453T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3361845	NM_013275.6(ANKRD11):c.7187_7189dup (p.Leu2396_Gln2397insLeu)	ANKRD11	Duplication (inframe_insertion)	not provided	GUncertain significance
Select item 3361338	NM_013275.6(ANKRD11):c.2552A>G (p.Asp851Gly)	ANKRD11 (D851G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3361166	NM_013275.6(ANKRD11):c.5978G>T (p.Arg1993Leu)	ANKRD11 (R1993L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3360976	NM_013275.6(ANKRD11):c.4876C>A (p.Pro1626Thr)	ANKRD11 (P1626T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3360833	NM_013275.6(ANKRD11):c.1742C>T (p.Ser581Phe)	ANKRD11 (S581F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3360774	NM_013275.6(ANKRD11):c.7652C>T (p.Pro2551Leu)	ANKRD11 (P2551L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3360346	NM_013275.6(ANKRD11):c.6277G>C (p.Glu2093Gln)	ANKRD11 (E2093Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3360306	NM_013275.6(ANKRD11):c.4789C>T (p.Arg1597Cys)	ANKRD11 (R1597C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3360244	NM_013275.6(ANKRD11):c.92A>C (p.Lys31Thr)	ANKRD11 (K31T)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3359922	NM_013275.6(ANKRD11):c.4817A>G (p.Lys1606Arg)	ANKRD11 (K1606R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3243331	NC_000016.9:g.(?_89346276)_(89348939_?)del	ANKRD11	Deletion	KBG syndrome	GLikely pathogenic
Select item 3243327	NC_000016.9:g.(?_89334886)_(89341619_?)del	ANKRD11	Deletion	KBG syndrome	GPathogenic
Select item 3065107	NM_013275.6(ANKRD11):c.2721G>C (p.Lys907Asn)	ANKRD11 (K907N)	Single nucleotide variant (missense variant)	KBG syndrome	GUncertain significance
Select item 3062321	NM_013275.6(ANKRD11):c.2161dup (p.Ile721fs)	ANKRD11 (I721fs)	Duplication (frameshift variant)	KBG syndrome	GLikely pathogenic
Select item 3062276	NM_013275.6(ANKRD11):c.7267A>T (p.Lys2423Ter)	ANKRD11 (K2423*)	Single nucleotide variant (nonsense)	KBG syndrome	GLikely pathogenic
Select item 3062243	NM_013275.6(ANKRD11):c.2499_2502del (p.Ser834fs)	ANKRD11 (S834fs)	Deletion (frameshift variant)	KBG syndrome	GLikely pathogenic
Select item 3062058	NM_013275.6(ANKRD11):c.5558dup (p.Asp1854fs)	ANKRD11 (D1854fs)	Duplication (frameshift variant)	KBG syndrome	GLikely pathogenic
Select item 3014313	NM_013275.6(ANKRD11):c.-34C>T	ANKRD11, LOC128462377 (A11V +1 more)	Single nucleotide variant (missense variant +2 more)	KBG syndrome	GUncertain significance
Select item 2987895	NM_013275.6(ANKRD11):c.-36G>A	ANKRD11, LOC128462377	Single nucleotide variant (synonymous variant +2 more)	KBG syndrome	GUncertain significance
Select item 2920717	NM_013275.6(ANKRD11):c.1984del (p.Glu662fs)	ANKRD11 (E662fs)	Deletion (frameshift variant)	KBG syndrome	GPathogenic
Select item 2855282	NM_013275.6(ANKRD11):c.-53G>A	ANKRD11, LOC128462377 (V5I +1 more)	Single nucleotide variant (missense variant +2 more)	KBG syndrome +1 more	GUncertain significance
Select item 2725387	NM_013275.6(ANKRD11):c.-33C>T	ANKRD11, LOC128462377	Single nucleotide variant (synonymous variant +2 more)	KBG syndrome	GUncertain significance
Select item 2713408	NM_013275.6(ANKRD11):c.-45T>A	ANKRD11, LOC128462377 (D8E +1 more)	Single nucleotide variant (missense variant +2 more)	KBG syndrome	GUncertain significance
Select item 2688571	NM_013275.6(ANKRD11):c.6439G>A (p.Asp2147Asn)	ANKRD11 (D2147N)	Single nucleotide variant (missense variant)	KBG syndrome	GUncertain significance
Select item 2674640	NM_013275.6(ANKRD11):c.2280_2281del (p.Tyr761fs)	ANKRD11 (Y761fs)	Deletion (frameshift variant)	KBG syndrome	GPathogenic
Select item 2647104	NM_013275.6(ANKRD11):c.-59-7293C>T	ANKRD11, LOC100287036 +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GBenign
Select item 2647103	NM_013275.6(ANKRD11):c.-59-7223C>T	ANKRD11, LOC100287036 +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GBenign
Select item 2584653	NM_013275.6(ANKRD11):c.1820A>G (p.Lys607Arg)	ANKRD11 (K607R)	Single nucleotide variant (missense variant)	KBG syndrome	GUncertain significance
Select item 2584614	NM_013275.6(ANKRD11):c.-60+48691C>T	ANKRD11, LOC128462377	Single nucleotide variant (intron variant)	KBG syndrome	GUncertain significance
Select item 2584612	NM_013275.6(ANKRD11):c.3725C>T (p.Ala1242Val)	ANKRD11 (A1242V)	Single nucleotide variant (missense variant)	KBG syndrome	GUncertain significance
Select item 2582729	NM_013275.6(ANKRD11):c.5358C>G (p.Asn1786Lys)	ANKRD11 (N1786K)	Single nucleotide variant (missense variant)	KBG syndrome	GUncertain significance
Select item 2442110	NM_013275.6(ANKRD11):c.928_934del (p.Pro310fs)	ANKRD11 (P310fs)	Deletion (frameshift variant)	KBG syndrome	GPathogenic
Select item 2441751	NM_013275.6(ANKRD11):c.5364C>G (p.Tyr1788Ter)	ANKRD11 (Y1788*)	Single nucleotide variant (nonsense)	KBG syndrome	GPathogenic
Select item 2441743	NM_013275.6(ANKRD11):c.4369A>T (p.Lys1457Ter)	ANKRD11 (K1457*)	Single nucleotide variant (nonsense)	KBG syndrome	GPathogenic
Select item 2439100	NM_013275.6(ANKRD11):c.2539G>A (p.Asp847Asn)	ANKRD11 (D847N)	Single nucleotide variant (missense variant)	KBG syndrome	GUncertain significance
Select item 2439099	NM_013275.6(ANKRD11):c.3257A>G (p.Lys1086Arg)	ANKRD11 (K1086R)	Single nucleotide variant (missense variant)	KBG syndrome	GUncertain significance
Select item 2439098	NM_013275.6(ANKRD11):c.6790C>T (p.Pro2264Ser)	ANKRD11 (P2264S)	Single nucleotide variant (missense variant)	KBG syndrome	GUncertain significance
Select item 2439097	NM_013275.6(ANKRD11):c.1038G>A (p.Glu346=)	ANKRD11	Single nucleotide variant (synonymous variant)	KBG syndrome	GUncertain significance
Select item 2439096	NM_013275.6(ANKRD11):c.3415_3416delinsTT (p.Glu1139Leu)	ANKRD11 (E1139L)	Indel (missense variant)	KBG syndrome	GUncertain significance
Select item 2439094	NM_013275.6(ANKRD11):c.4637T>G (p.Val1546Gly)	ANKRD11 (V1546G)	Single nucleotide variant (missense variant)	KBG syndrome	GUncertain significance
Select item 2439093	NM_013275.6(ANKRD11):c.7807-2A>G	ANKRD11	Single nucleotide variant (splice acceptor variant)	KBG syndrome	GUncertain significance
Select item 2439092	NM_013275.6(ANKRD11):c.5198C>G (p.Ala1733Gly)	ANKRD11 (A1733G)	Single nucleotide variant (missense variant)	KBG syndrome	GUncertain significance
Select item 2439089	NM_013275.6(ANKRD11):c.6970C>T (p.Pro2324Ser)	ANKRD11 (P2324S)	Single nucleotide variant (missense variant)	KBG syndrome	GUncertain significance
Select item 2439088	NM_013275.6(ANKRD11):c.3783C>G (p.Asp1261Glu)	ANKRD11 (D1261E)	Single nucleotide variant (missense variant)	KBG syndrome	GConflicting classifications of pathogenicity
Select item 2439087	NM_013275.6(ANKRD11):c.7160G>A (p.Arg2387His)	ANKRD11 (R2387H)	Single nucleotide variant (missense variant)	KBG syndrome	GUncertain significance
Select item 2433945	NM_013275.6(ANKRD11):c.4306_4307del (p.Glu1436fs)	ANKRD11 (E1436fs)	Microsatellite (frameshift variant)	KBG syndrome	GLikely pathogenic
Select item 2433892	NM_013275.6(ANKRD11):c.7225G>T (p.Glu2409Ter)	ANKRD11 (E2409*)	Single nucleotide variant (nonsense)	KBG syndrome	GLikely pathogenic
Select item 2429793	NM_013275.6(ANKRD11):c.5491G>T (p.Asp1831Tyr)	ANKRD11 (D1831Y)	Single nucleotide variant (missense variant)	Autism spectrum disorder	GLikely benign
Select item 2429792	NM_013275.6(ANKRD11):c.5044G>T (p.Gly1682Cys)	ANKRD11 (G1682C)	Single nucleotide variant (missense variant)	Autism spectrum disorder	GLikely benign
Select item 2178626	NM_013275.6(ANKRD11):c.-54G>A	ANKRD11, LOC128462377	Single nucleotide variant (5 prime UTR variant +1 more)	KBG syndrome	GUncertain significance
Select item 1992394	NM_013275.6(ANKRD11):c.3201dup (p.Asp1068fs)	ANKRD11 (D1068fs)	Duplication (frameshift variant)	KBG syndrome	GLikely pathogenic
Select item 1701628	NM_013275.6(ANKRD11):c.4265T>G (p.Leu1422Trp)	ANKRD11 (L1422W)	Single nucleotide variant (missense variant)	KBG syndrome	GUncertain significance
Select item 1701029	NM_013275.6(ANKRD11):c.2177_2178del (p.Lys726fs)	ANKRD11 (K726fs)	Deletion (frameshift variant)	KBG syndrome	GPathogenic
Select item 1701028	NM_013275.6(ANKRD11):c.1893del (p.Lys631fs)	ANKRD11 (K631fs)	Deletion (frameshift variant)	KBG syndrome	GPathogenic
Select item 1701027	NM_013275.6(ANKRD11):c.5659C>T (p.Gln1887Ter)	ANKRD11 (Q1887*)	Single nucleotide variant (nonsense)	KBG syndrome	GPathogenic
Select item 1701026	NM_013275.6(ANKRD11):c.6596_6597insA (p.Ala2201fs)	ANKRD11 (A2201fs)	Insertion (frameshift variant)	KBG syndrome	GPathogenic
Select item 1701025	NM_013275.6(ANKRD11):c.2273dup (p.Arg759fs)	ANKRD11 (R759fs)	Duplication (frameshift variant)	KBG syndrome	GPathogenic
Select item 1701023	NM_013275.6(ANKRD11):c.1018dup (p.Thr340fs)	ANKRD11 (T340fs)	Duplication (frameshift variant)	KBG syndrome	GLikely pathogenic
Select item 1696752	NM_013275.6(ANKRD11):c.-145+15205C>T	ANKRD11	Single nucleotide variant (intron variant)	KBG syndrome	GUncertain significance
Select item 1696585	NM_013275.6(ANKRD11):c.1357A>G (p.Lys453Glu)	ANKRD11 (K453E)	Single nucleotide variant (missense variant)	KBG syndrome	GUncertain significance
Select item 1679760	NM_013275.6(ANKRD11):c.4259T>C (p.Ile1420Thr)	ANKRD11 (I1420T)	Single nucleotide variant (missense variant)	KBG syndrome	GUncertain significance
Select item 1679745	NM_013275.6(ANKRD11):c.1056C>G (p.Asp352Glu)	ANKRD11 (D352E)	Single nucleotide variant (missense variant)	KBG syndrome	GUncertain significance
Select item 1676529	NM_013275.6(ANKRD11):c.3073C>T (p.Pro1025Ser)	ANKRD11 (P1025S)	Single nucleotide variant	not provided	GUncertain significance
Select item 1631453	NM_013275.6(ANKRD11):c.-268GCC[5]	ANKRD11, LOC130059812	Microsatellite (5 prime UTR variant +1 more)	KBG syndrome	GBenign
Select item 1630295	NM_013275.6(ANKRD11):c.-251C>G	ANKRD11, LOC130059812	Single nucleotide variant (5 prime UTR variant +1 more)	KBG syndrome	GLikely benign
Select item 1527886	NM_013275.6(ANKRD11):c.1558del (p.Ala520fs)	ANKRD11 (A520fs)	Deletion (frameshift variant)	KBG syndrome	GPathogenic
Select item 1526555	GRCh37/hg19 16q24.3(chr16:89532003-89570635)	ANKRD11	Copy number loss	not specified	GPathogenic
Select item 1526551	GRCh37/hg19 16q24.3(chr16:89434509-89490401)	ANKRD11	Copy number loss	not specified	GPathogenic
Select item 1526549	GRCh37/hg19 16q24.3(chr16:89342189-89428443)	ANKRD11	Copy number loss	not specified	GPathogenic
Select item 1526548	GRCh37/hg19 16q24.3(chr16:89296939-89420254)	ANKRD11	Copy number loss	not specified	GPathogenic
Select item 1343910	NM_013275.6(ANKRD11):c.-144-29864A>T	ANKRD11, LOC101927817	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1342556	NM_013275.6(ANKRD11):c.7114C>T (p.Arg2372Cys)	ANKRD11 (R2372C)	Single nucleotide variant (missense variant)	KBG syndrome	GUncertain significance
Select item 1342414	NM_013275.6(ANKRD11):c.4217A>T (p.Tyr1406Phe)	ANKRD11 (Y1406F)	Single nucleotide variant (missense variant)	KBG syndrome	GUncertain significance
Select item 1342321	NM_013275.6(ANKRD11):c.-145+4A>T	ANKRD11	Single nucleotide variant (intron variant)	KBG syndrome	GUncertain significance
Select item 1342119	NM_013275.6(ANKRD11):c.-144-19726C>T	ANKRD11, LOC101927817	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1341910	NM_013275.6(ANKRD11):c.6226C>T (p.Pro2076Ser)	ANKRD11 (P2076S)	Single nucleotide variant (missense variant)	KBG syndrome	GUncertain significance
Select item 1341759	NM_013275.6(ANKRD11):c.227-269A>G	ANKRD11	Single nucleotide variant (intron variant)	KBG syndrome	GUncertain significance
Select item 1341711	NM_013275.6(ANKRD11):c.3653A>C (p.Lys1218Thr)	ANKRD11 (K1218T)	Single nucleotide variant (missense variant)	KBG syndrome	GUncertain significance
Select item 1341555	NM_013275.6(ANKRD11):c.2368G>T (p.Glu790Ter)	ANKRD11 (E790*)	Single nucleotide variant (nonsense)	KBG syndrome	GPathogenic
Select item 1341554	NM_013275.6(ANKRD11):c.1459G>T (p.Glu487Ter)	ANKRD11 (E487*)	Single nucleotide variant (nonsense)	KBG syndrome	GPathogenic
Select item 1341553	NM_013275.6(ANKRD11):c.1388_1389del (p.Lys463fs)	ANKRD11 (K463fs)	Deletion (frameshift variant)	KBG syndrome	GPathogenic
Select item 1341550	NM_013275.6(ANKRD11):c.-145+88_-145+103del	ANKRD11	Deletion (intron variant)	KBG syndrome	GPathogenic
Select item 1341548	NM_013275.6(ANKRD11):c.-145+634_-145+1315del	ANKRD11	Deletion (intron variant)	KBG syndrome	GPathogenic
Select item 1341547	NC_000016.9:g.89306725_89339913del33189	ANKRD11	Deletion	KBG syndrome	GPathogenic
Select item 1341545	NM_013275.6(ANKRD11):c.7031T>C (p.Leu2344Pro)	ANKRD11 (L2344P)	Single nucleotide variant (missense variant)	KBG syndrome	GUncertain significance
Select item 1341544	NM_013275.6(ANKRD11):c.6552_6558dup (p.Pro2187Ter)	ANKRD11 (P2187*)	Duplication (nonsense)	KBG syndrome	GPathogenic
Select item 1341543	NM_013275.6(ANKRD11):c.6434C>T (p.Thr2145Ile)	ANKRD11 (T2145I)	Single nucleotide variant (missense variant)	KBG syndrome	GBenign
Select item 1341542	NM_013275.6(ANKRD11):c.5401G>A (p.Glu1801Lys)	ANKRD11 (E1801K)	Single nucleotide variant (missense variant)	KBG syndrome	GLikely benign
Select item 1341541	NM_013275.6(ANKRD11):c.4414G>A (p.Glu1472Lys)	ANKRD11 (E1472K)	Single nucleotide variant (missense variant)	KBG syndrome	GLikely benign
Select item 1341540	NM_013275.6(ANKRD11):c.4261G>T (p.Glu1421Ter)	ANKRD11 (E1421*)	Single nucleotide variant (nonsense)	KBG syndrome	GPathogenic
Select item 1341538	NM_013275.6(ANKRD11):c.2987G>T (p.Gly996Val)	ANKRD11 (G996V)	Single nucleotide variant (missense variant)	KBG syndrome	GLikely benign
Select item 1341537	NM_013275.6(ANKRD11):c.2523G>A (p.Trp841Ter)	ANKRD11 (W841*)	Single nucleotide variant (nonsense)	KBG syndrome	GPathogenic
Select item 1341536	NM_013275.6(ANKRD11):c.1232C>A (p.Ser411Ter)	ANKRD11 (S411*)	Single nucleotide variant (nonsense)	KBG syndrome	GPathogenic
Select item 1326171	NM_013275.6(ANKRD11):c.-144-29822_-144-29787dup	ANKRD11, LOC101927817	Duplication (intron variant)	not provided	GLikely benign
Select item 1325513	NM_013275.6(ANKRD11):c.4471G>A (p.Glu1491Lys)	ANKRD11 (E1491K)	Single nucleotide variant (missense variant)	KBG syndrome	GUncertain significance
Select item 1323904	NM_013275.6(ANKRD11):c.1861A>T (p.Lys621Ter)	ANKRD11 (K621*)	Single nucleotide variant (nonsense)	KBG syndrome	GLikely pathogenic
Select item 1323903	NM_013275.6(ANKRD11):c.7407C>G (p.Tyr2469Ter)	ANKRD11 (Y2469*)	Single nucleotide variant (nonsense)	KBG syndrome	GLikely pathogenic

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