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

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2451637	NM_004517.4(ILK):c.21G>A (p.Gln7=)	ILK, LOC130005201	Single nucleotide variant (synonymous variant +1 more)	not specified	GLikely benign
Select item 463183	NM_004517.4(ILK):c.36C>T (p.Asn12=)	ILK, LOC130005201	Single nucleotide variant (synonymous variant +1 more)	not specified +2 more	GBenign/Likely benign
Select item 3109498	NM_004517.4(ILK):c.46G>T (p.Val16Phe)	ILK, LOC130005201 (V16F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1746694	NM_004517.4(ILK):c.52C>T (p.Leu18=)	ILK, LOC130005201	Single nucleotide variant (synonymous variant +1 more)	Primary familial hypertrophic cardiomyopathy +1 more	GLikely benign
Select item 1753307	NM_004517.4(ILK):c.63C>T (p.Asp21=)	ILK, LOC130005201	Single nucleotide variant (synonymous variant +1 more)	Primary familial hypertrophic cardiomyopathy +1 more	GLikely benign
Select item 2612639	NM_004517.4(ILK):c.67A>T (p.Thr23Ser)	ILK, LOC130005201 (T23S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1758196	NM_004517.4(ILK):c.72G>A (p.Glu24=)	ILK, LOC130005201	Single nucleotide variant (synonymous variant +1 more)	not specified	GLikely benign
Select item 2566097	NM_004517.4(ILK):c.78C>A (p.Asp26Glu)	ILK, LOC130005201 (D26E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1767174	NM_004517.4(ILK):c.94G>A (p.Asp32Asn)	ILK, TAF10 (D32N)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 1768532	NM_004517.4(ILK):c.98A>C (p.His33Pro)	ILK, TAF10 (H33P)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 1797173	NM_004517.4(ILK):c.111C>A (p.Pro37=)	ILK, TAF10	Single nucleotide variant (synonymous variant +2 more)	Primary familial hypertrophic cardiomyopathy +1 more	GLikely benign
Select item 1572146	NM_004517.4(ILK):c.111C>T (p.Pro37=)	ILK, TAF10	Single nucleotide variant (synonymous variant +2 more)	not specified +1 more	GLikely benign
Select item 2451638	NM_004517.4(ILK):c.127C>G (p.Arg43Gly)	ILK, TAF10 (R43G)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 1771012	NM_004517.4(ILK):c.136C>T (p.Arg46Cys)	ILK, TAF10 (R46C)	Single nucleotide variant (missense variant +2 more)	Primary familial hypertrophic cardiomyopathy +1 more	GUncertain significance
Select item 1771983	NM_004517.4(ILK):c.140C>G (p.Ser47Cys)	ILK, TAF10 (S47C)	Single nucleotide variant (missense variant +2 more)	Primary familial hypertrophic cardiomyopathy +1 more	GUncertain significance
Select item 1773967	NM_004517.4(ILK):c.149T>C (p.Val50Ala)	ILK, TAF10 (V50A)	Single nucleotide variant (missense variant +2 more)	Primary familial hypertrophic cardiomyopathy +1 more	GUncertain significance
Select item 3224305	NM_004517.4(ILK):c.173C>T (p.Ala58Val)	ILK, TAF10 (A58V)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 761590	NM_004517.4(ILK):c.183T>C (p.Asn61=)	ILK, TAF10	Single nucleotide variant (synonymous variant +2 more)	Primary familial hypertrophic cardiomyopathy +1 more	GLikely benign
Select item 201790	NM_004517.4(ILK):c.184G>A (p.Val62Ile)	ILK, TAF10 (V62I)	Single nucleotide variant (missense variant +2 more)	not provided +2 more	GUncertain significance
Select item 3224306	NM_004517.4(ILK):c.186A>C (p.Val62=)	ILK, TAF10	Single nucleotide variant (synonymous variant +2 more)	not specified	GLikely benign
Select item 3224307	NM_004517.4(ILK):c.199G>A (p.Asp67Asn)	ILK, TAF10 (D67N)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 1785188	NM_004517.4(ILK):c.205A>T (p.Thr69Ser)	ILK, TAF10 (T69S)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 1785526	NM_004517.4(ILK):c.207C>G (p.Thr69=)	ILK, TAF10	Single nucleotide variant (synonymous variant +2 more)	not specified	GLikely benign
Select item 1786557	NM_004517.4(ILK):c.213G>A (p.Leu71=)	ILK, TAF10	Single nucleotide variant (synonymous variant +2 more)	not specified	GLikely benign
Select item 1789403	NM_004517.4(ILK):c.230A>G (p.His77Arg)	ILK, TAF10 (H77R)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 1587685	NM_004517.4(ILK):c.231T>C (p.His77=)	ILK, TAF10	Single nucleotide variant (synonymous variant +2 more)	Primary familial hypertrophic cardiomyopathy +1 more	GLikely benign
Select item 2147915	NM_004517.4(ILK):c.238C>T (p.Arg80Cys)	ILK, TAF10 (R80C)	Single nucleotide variant (missense variant +2 more)	not specified +1 more	GUncertain significance
Select item 1791766	NM_004517.4(ILK):c.246T>A (p.Ile82=)	ILK, TAF10	Single nucleotide variant (synonymous variant +2 more)	not specified	GLikely benign
Select item 227442	NM_004517.4(ILK):c.252G>A (p.Gln84=)	ILK, TAF10	Single nucleotide variant (synonymous variant +2 more)	Primary familial hypertrophic cardiomyopathy +2 more	GLikely benign
Select item 418259	NM_004517.4(ILK):c.277A>G (p.Ile93Val)	ILK, TAF10 (I93V)	Single nucleotide variant (missense variant +2 more)	not specified +2 more	GUncertain significance
Select item 382017	NM_004517.4(ILK):c.279C>A (p.Ile93=)	ILK, TAF10	Single nucleotide variant (synonymous variant +2 more)	Primary familial hypertrophic cardiomyopathy +1 more	GLikely benign
Select item 379141	NM_004517.4(ILK):c.282T>C (p.Asn94=)	TAF10, ILK	Single nucleotide variant (synonymous variant +2 more)	not provided +2 more	GBenign/Likely benign
Select item 137588	NM_004517.4(ILK):c.297C>T (p.His99=)	TAF10, ILK	Single nucleotide variant (synonymous variant +2 more)	Primary familial hypertrophic cardiomyopathy +1 more	GBenign/Likely benign
Select item 1733583	NM_004517.4(ILK):c.364A>T (p.Asn122Tyr)	ILK, TAF10 (N122Y)	Single nucleotide variant (missense variant +3 more)	not specified +1 more	GUncertain significance
Select item 1498897	NM_004517.4(ILK):c.373C>G (p.Leu125Val)	ILK, TAF10 (L125V)	Single nucleotide variant (missense variant +3 more)	Primary familial hypertrophic cardiomyopathy +1 more	GUncertain significance
Select item 1736434	NM_004517.4(ILK):c.394T>G (p.Tyr132Asp)	ILK, TAF10 (Y132D)	Single nucleotide variant (missense variant +3 more)	Primary familial hypertrophic cardiomyopathy +1 more	GUncertain significance
Select item 2566099	NM_004517.4(ILK):c.399A>G (p.Gly133=)	ILK, TAF10	Single nucleotide variant (synonymous variant +3 more)	not specified	GLikely benign
Select item 2428206	NM_004517.4(ILK):c.410T>C (p.Val137Ala)	ILK, TAF10 (V137A +1 more)	Single nucleotide variant (missense variant +2 more)	not specified +1 more	GUncertain significance
Select item 1438063	NM_004517.4(ILK):c.422A>G (p.Lys141Arg)	ILK, TAF10 (K141R +1 more)	Single nucleotide variant (missense variant +2 more)	not specified +1 more	GUncertain significance
Select item 1739322	NM_004517.4(ILK):c.427C>A (p.Pro143Thr)	ILK, TAF10 (P143T +1 more)	Single nucleotide variant (missense variant +2 more)	Primary familial hypertrophic cardiomyopathy +1 more	GUncertain significance
Select item 1739768	NM_004517.4(ILK):c.432G>A (p.Leu144=)	ILK, TAF10	Single nucleotide variant (synonymous variant +2 more)	not specified	GLikely benign
Select item 2473969	NM_004517.4(ILK):c.440T>C (p.Leu147Pro)	ILK, TAF10 (L147P +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 222652	NM_004517.4(ILK):c.446G>A (p.Arg149Gln)	ILK, TAF10 (R149Q +1 more)	Single nucleotide variant (missense variant +2 more)	not specified +3 more	GUncertain significance
Select item 666077	NM_004517.4(ILK):c.466G>A (p.Gly156Ser)	ILK, TAF10 (G22S +2 more)	Single nucleotide variant (missense variant +2 more)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 532035	NM_004517.4(ILK):c.468C>A (p.Gly156=)	ILK, TAF10 (A124D)	Single nucleotide variant (synonymous variant +2 more)	not specified +1 more	GLikely benign
Select item 3224308	NM_004517.4(ILK):c.472A>T (p.Asn158Tyr)	ILK, TAF10 (N158Y +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1742882	NM_004517.4(ILK):c.475C>G (p.Leu159Val)	ILK, TAF10 (I126M +2 more)	Single nucleotide variant (missense variant +1 more)	Primary familial hypertrophic cardiomyopathy +1 more	GUncertain significance
Select item 1743083	NM_004517.4(ILK):c.478A>G (p.Asn160Asp)	ILK, TAF10 (N160D +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 1402311	NM_004517.4(ILK):c.481C>T (p.Arg161Cys)	ILK, TAF10 (R27C +1 more)	Single nucleotide variant (missense variant +2 more)	Primary familial hypertrophic cardiomyopathy +1 more	GUncertain significance
Select item 1743415	NM_004517.4(ILK):c.482G>A (p.Arg161His)	ILK, TAF10 (R161H +2 more)	Single nucleotide variant (missense variant +1 more)	Primary familial hypertrophic cardiomyopathy +1 more	GUncertain significance
Select item 1744249	NM_004517.4(ILK):c.493A>G (p.Lys165Glu)	ILK, TAF10 (K165E +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 766562	NM_004517.4(ILK):c.501A>G (p.Thr167=)	ILK, TAF10 (H135R)	Single nucleotide variant (synonymous variant +2 more)	not specified +1 more	GLikely benign
Select item 520261	NM_004517.4(ILK):c.503T>G (p.Phe168Cys)	TAF10, ILK (F168C +2 more)	Single nucleotide variant (missense variant +1 more)	Primary familial hypertrophic cardiomyopathy +1 more	GConflicting classifications of pathogenicity
Select item 2586351	NM_004517.4(ILK):c.513G>T (p.Gly171=)	ILK, TAF10 (G139V)	Single nucleotide variant (synonymous variant +2 more)	not specified	GLikely benign
Select item 1745708	NM_004517.4(ILK):c.515C>A (p.Thr172Asn)	ILK, TAF10 (P140T +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 520250	NM_004517.4(ILK):c.521G>A (p.Arg174His)	TAF10, ILK (R174H +2 more)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 1174719	NM_004517.4(ILK):c.551A>C (p.Lys184Thr)	ILK, TAF10 (K184T +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 1126837	NM_004517.4(ILK):c.555C>T (p.His185=)	ILK, TAF10	Single nucleotide variant (synonymous variant +2 more)	not specified +1 more	GLikely benign
Select item 2242825	NM_004517.4(ILK):c.556T>C (p.Ser186Pro)	ILK, TAF10 (S186P +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2605078	NM_004517.4(ILK):c.560G>T (p.Gly187Val)	ILK, TAF10 (G53V +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 532032	NM_004517.4(ILK):c.580A>G (p.Asn194Asp)	ILK, TAF10 (N194D +1 more)	Single nucleotide variant (missense variant +2 more)	not specified +1 more	GUncertain significance
Select item 1750498	NM_004517.4(ILK):c.591G>A (p.Thr197=)	ILK, TAF10	Single nucleotide variant (synonymous variant +2 more)	Primary familial hypertrophic cardiomyopathy +1 more	GConflicting classifications of pathogenicity
Select item 1750812	NM_004517.4(ILK):c.597C>A (p.Leu199=)	ILK, TAF10	Single nucleotide variant (synonymous variant +2 more)	not specified	GLikely benign
Select item 2566095	NM_004517.4(ILK):c.610T>G (p.Ser204Ala)	ILK, TAF10 (S204A +1 more)	Single nucleotide variant (missense variant +2 more)	Primary familial hypertrophic cardiomyopathy +1 more	GUncertain significance
Select item 1429019	NM_004517.4(ILK):c.613G>A (p.Gly205Arg)	ILK, TAF10 (G205R +1 more)	Single nucleotide variant (missense variant +2 more)	not specified +1 more	GUncertain significance
Select item 239949	NM_006284.4(TAF10):c.*1629G>A	ILK, TAF10	Single nucleotide variant (3 prime UTR variant +1 more)	not specified +2 more	GBenign/Likely benign
Select item 517629	NM_004517.4(ILK):c.632G>A (p.Arg211His)	ILK, TAF10 (R211H +2 more)	Single nucleotide variant (missense variant +1 more)	Primary familial hypertrophic cardiomyopathy +1 more	GConflicting classifications of pathogenicity
Select item 1753277	NM_004517.4(ILK):c.639G>A (p.Gln213=)	ILK, TAF10	Single nucleotide variant (synonymous variant +1 more)	not specified	GLikely benign
Select item 2447021	NM_004517.4(ILK):c.644A>G (p.Asn215Ser)	ILK, TAF10 (N215S +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3109499	NM_004517.4(ILK):c.650T>C (p.Ile217Thr)	ILK, TAF10 (I217T +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1754192	NM_004517.4(ILK):c.655G>A (p.Val219Met)	ILK, TAF10 (V158M +2 more)	Single nucleotide variant (missense variant +1 more)	Primary familial hypertrophic cardiomyopathy +1 more	GUncertain significance
Select item 1755497	NM_004517.4(ILK):c.679T>A (p.Trp227Arg)	ILK, TAF10 (W227R +2 more)	Single nucleotide variant (missense variant +1 more)	Primary familial hypertrophic cardiomyopathy +1 more	GUncertain significance
Select item 2624752	NM_004517.4(ILK):c.686C>T (p.Thr229Ile)	ILK, TAF10 (T168I +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 762017	NM_004517.4(ILK):c.708T>C (p.Asn236=)	TAF10, ILK	Single nucleotide variant (synonymous variant +1 more)	Primary familial hypertrophic cardiomyopathy +1 more	GLikely benign
Select item 2451635	NM_004517.4(ILK):c.713A>T (p.Glu238Val)	ILK, TAF10 (E104V +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 756875	NM_004517.4(ILK):c.714G>A (p.Glu238=)	ILK, TAF10	Single nucleotide variant (synonymous variant +1 more)	Primary familial hypertrophic cardiomyopathy +1 more	GLikely benign
Select item 1758656	NM_004517.4(ILK):c.738G>T (p.Ser246=)	ILK, TAF10	Single nucleotide variant (synonymous variant +1 more)	not specified	GLikely benign
Select item 1089383	NM_004517.4(ILK):c.738G>C (p.Ser246=)	ILK, TAF10	Single nucleotide variant (synonymous variant +1 more)	Primary familial hypertrophic cardiomyopathy +1 more	GLikely benign
Select item 2451636	NM_004517.4(ILK):c.758T>C (p.Val253Ala)	ILK, TAF10 (V192A +2 more)	Single nucleotide variant (missense variant +1 more)	Primary familial hypertrophic cardiomyopathy +1 more	GUncertain significance
Select item 3224309	NM_004517.4(ILK):c.771C>T (p.Cys257=)	ILK, TAF10	Single nucleotide variant (synonymous variant +1 more)	not specified	GLikely benign
Select item 1761171	NM_004517.4(ILK):c.790C>T (p.His264Tyr)	ILK, TAF10 (H203Y +2 more)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GUncertain significance
Select item 2334859	NM_004517.4(ILK):c.792T>A (p.His264Gln)	ILK, TAF10 (H264Q +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1148290	NM_004517.4(ILK):c.801C>T (p.Leu267=)	ILK, TAF10	Single nucleotide variant (synonymous variant +1 more)	not specified +1 more	GLikely benign
Select item 1762225	NM_004517.4(ILK):c.815T>G (p.Met272Arg)	ILK, TAF10 (M138R +2 more)	Single nucleotide variant (missense variant +1 more)	Primary familial hypertrophic cardiomyopathy +1 more	GUncertain significance
Select item 1762272	NM_004517.4(ILK):c.816G>A (p.Met272Ile)	ILK, TAF10 (M138I +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3224310	NM_004517.4(ILK):c.818C>T (p.Pro273Leu)	ILK, TAF10 (P139L +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1762342	NM_004517.4(ILK):c.818C>A (p.Pro273Gln)	ILK, TAF10 (P212Q +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 137590	NM_004517.4(ILK):c.819G>A (p.Pro273=)	ILK, TAF10	Single nucleotide variant (synonymous variant +1 more)	Primary familial hypertrophic cardiomyopathy +1 more	GBenign/Likely benign
Select item 3224311	NM_004517.4(ILK):c.828C>T (p.Ser276=)	ILK, TAF10	Single nucleotide variant (synonymous variant +1 more)	not specified	GLikely benign
Select item 1763505	NM_004517.4(ILK):c.846T>C (p.His282=)	ILK, TAF10	Single nucleotide variant (synonymous variant +1 more)	not specified +1 more	GLikely benign
Select item 1099321	NM_004517.4(ILK):c.861C>T (p.Phe287=)	ILK, TAF10	Single nucleotide variant (synonymous variant +1 more)	Primary familial hypertrophic cardiomyopathy +1 more	GLikely benign
Select item 1418246	NM_004517.4(ILK):c.862G>A (p.Val288Ile)	ILK, TAF10 (V154I +2 more)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GUncertain significance
Select item 2566096	NM_004517.4(ILK):c.864C>G (p.Val288=)	ILK, TAF10	Single nucleotide variant (synonymous variant +1 more)	not specified	GLikely benign
Select item 516117	NM_004517.4(ILK):c.864C>T (p.Val288=)	ILK, TAF10	Single nucleotide variant (synonymous variant +1 more)	ILK-related condition +2 more	GBenign/Likely benign
Select item 1764594	NM_004517.4(ILK):c.876C>T (p.Ser292=)	ILK, TAF10	Single nucleotide variant (synonymous variant +1 more)	Primary familial hypertrophic cardiomyopathy +1 more	GLikely benign
Select item 1764920	NM_004517.4(ILK):c.885G>C (p.Val295=)	ILK, TAF10	Single nucleotide variant (synonymous variant +1 more)	not specified	GLikely benign
Select item 1765260	NM_004517.4(ILK):c.895T>C (p.Leu299=)	ILK, TAF10	Single nucleotide variant (synonymous variant +1 more)	not specified	GLikely benign
Select item 1765491	NM_004517.4(ILK):c.901A>T (p.Met301Leu)	ILK, TAF10 (M167L +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1292639	NM_004517.4(ILK):c.906A>G (p.Ala302=)	ILK, TAF10	Single nucleotide variant (synonymous variant +1 more)	not provided +2 more	GBenign/Likely benign
Select item 1098990	NM_004517.4(ILK):c.909G>A (p.Arg303=)	ILK, TAF10	Single nucleotide variant (synonymous variant +1 more)	Primary familial hypertrophic cardiomyopathy +1 more	GLikely benign

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