"Invitae"[submitter] AND "ILK"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 854224	NM_004517.4(ILK):c.7G>C (p.Asp3His)	ILK, LOC130005201 (D3H)	Single nucleotide variant (missense variant +1 more)	Primary familial hypertrophic cardiomyopathy	GUncertain significance
Select item 386645	NM_004517.4(ILK):c.12T>A (p.Ile4=)	ILK, LOC130005201	Single nucleotide variant (synonymous variant +1 more)	not specified +1 more	GLikely benign
Select item 1928413	NM_004517.4(ILK):c.15C>T (p.Phe5=)	ILK, LOC130005201	Single nucleotide variant (synonymous variant +1 more)	Primary familial hypertrophic cardiomyopathy	GLikely benign
Select item 1055841	NM_004517.4(ILK):c.35A>G (p.Asn12Ser)	ILK, LOC130005201 (N12S)	Single nucleotide variant (missense variant +1 more)	Primary familial hypertrophic cardiomyopathy	GUncertain significance
Select item 463183	NM_004517.4(ILK):c.36C>T (p.Asn12=)	ILK, LOC130005201	Single nucleotide variant (synonymous variant +1 more)	Inborn genetic diseases +2 more	GBenign/Likely benign
Select item 1746694	NM_004517.4(ILK):c.52C>T (p.Leu18=)	ILK, LOC130005201	Single nucleotide variant (synonymous variant +1 more)	Inborn genetic diseases +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)	Inborn genetic diseases +1 more	GLikely benign
Select item 201788	NM_004517.4(ILK):c.65A>G (p.Asn22Ser)	ILK, LOC130005201 (N22S)	Single nucleotide variant (missense variant +1 more)	ILK-related condition +4 more	GLikely benign
Select item 1146904	NM_004517.4(ILK):c.69G>C (p.Thr23=)	ILK, LOC130005201	Single nucleotide variant (synonymous variant +1 more)	Primary familial hypertrophic cardiomyopathy	GLikely benign
Select item 1447650	NM_004517.4(ILK):c.79C>A (p.Leu27Ile)	ILK, LOC130005201 (L27I)	Single nucleotide variant (missense variant +1 more)	Primary familial hypertrophic cardiomyopathy	GUncertain significance
Select item 2826521	NM_004517.4(ILK):c.83A>G (p.Asn28Ser)	ILK, LOC130005201 (N28S)	Single nucleotide variant (missense variant +1 more)	Primary familial hypertrophic cardiomyopathy	GUncertain significance
Select item 1054607	NM_004517.4(ILK):c.89+6C>T	ILK, LOC130005201	Single nucleotide variant (intron variant)	Primary familial hypertrophic cardiomyopathy	GUncertain significance
Select item 2869364	NM_004517.4(ILK):c.89+8G>T	ILK, LOC130005201	Single nucleotide variant (intron variant)	Primary familial hypertrophic cardiomyopathy	GLikely benign
Select item 1667507	NM_004517.4(ILK):c.89+13G>A	ILK, LOC130005201	Single nucleotide variant (intron variant)	Primary familial hypertrophic cardiomyopathy	GLikely benign
Select item 1601475	NM_006284.4(TAF10):c.*2893A>G	ILK, TAF10	Single nucleotide variant (3 prime UTR variant +1 more)	Primary familial hypertrophic cardiomyopathy	GBenign
Select item 698782	NM_006284.4(TAF10):c.*2881G>A	ILK, TAF10	Single nucleotide variant (3 prime UTR variant +1 more)	Primary familial hypertrophic cardiomyopathy	GLikely benign
Select item 697187	NM_004517.4(ILK):c.93C>T (p.Asp31=)	TAF10, ILK	Single nucleotide variant (synonymous variant +2 more)	Primary familial hypertrophic cardiomyopathy	GLikely benign
Select item 1413619	NM_004517.4(ILK):c.110C>T (p.Pro37Leu)	TAF10, ILK (P37L)	Single nucleotide variant (missense variant +2 more)	Primary familial hypertrophic cardiomyopathy	GUncertain significance
Select item 1797173	NM_004517.4(ILK):c.111C>A (p.Pro37=)	ILK, TAF10	Single nucleotide variant (synonymous variant +2 more)	Inborn genetic diseases +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)	Primary familial hypertrophic cardiomyopathy +1 more	GLikely benign
Select item 1156397	NM_004517.4(ILK):c.117C>T (p.His39=)	ILK, TAF10	Single nucleotide variant (synonymous variant +2 more)	Primary familial hypertrophic cardiomyopathy	GLikely benign
Select item 1401337	NM_004517.4(ILK):c.128G>A (p.Arg43Gln)	ILK, TAF10 (R43Q)	Single nucleotide variant (missense variant +2 more)	Primary familial hypertrophic cardiomyopathy	GUncertain significance
Select item 432422	NM_004517.4(ILK):c.130G>C (p.Glu44Gln)	ILK, TAF10 (E44Q)	Single nucleotide variant (missense variant +2 more)	not provided +2 more	GUncertain significance
Select item 1771012	NM_004517.4(ILK):c.136C>T (p.Arg46Cys)	ILK, TAF10 (R46C)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1381022	NM_004517.4(ILK):c.137G>A (p.Arg46His)	ILK, TAF10 (R46H)	Single nucleotide variant (missense variant +2 more)	Primary familial hypertrophic cardiomyopathy	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 432620	NM_004517.4(ILK):c.146T>C (p.Val49Ala)	ILK, TAF10 (V49A)	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)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2724874	NM_004517.4(ILK):c.151G>C (p.Glu51Gln)	ILK, TAF10 (E51Q)	Single nucleotide variant (missense variant +2 more)	Primary familial hypertrophic cardiomyopathy	GUncertain significance
Select item 180371	NM_004517.4(ILK):c.157T>A (p.Leu53Met)	ILK, TAF10 (L53M)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 662408	NM_004517.4(ILK):c.164_181del (p.Met55_Ile60del)	ILK, TAF10	Deletion (inframe_deletion +2 more)	Primary familial hypertrophic cardiomyopathy	GUncertain significance
Select item 849595	NM_004517.4(ILK):c.163A>G (p.Met55Val)	ILK, TAF10 (M55V)	Single nucleotide variant (missense variant +2 more)	Primary familial hypertrophic cardiomyopathy	GUncertain significance
Select item 862681	NM_004517.4(ILK):c.169G>A (p.Gly57Arg)	ILK, TAF10 (G57R)	Single nucleotide variant (missense variant +2 more)	Primary familial hypertrophic cardiomyopathy	GUncertain significance
Select item 1107126	NM_004517.4(ILK):c.171G>A (p.Gly57=)	ILK, TAF10	Single nucleotide variant (synonymous variant +2 more)	Primary familial hypertrophic cardiomyopathy	GLikely benign
Select item 1015492	NM_004517.4(ILK):c.175C>G (p.Arg59Gly)	ILK, TAF10 (R59G)	Single nucleotide variant (missense variant +2 more)	Primary familial hypertrophic cardiomyopathy	GUncertain significance
Select item 201789	NM_004517.4(ILK):c.175C>T (p.Arg59Trp)	ILK, TAF10 (R59W)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	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)	Inborn genetic diseases +2 more	GUncertain significance
Select item 842920	NM_004517.4(ILK):c.193C>T (p.Arg65Cys)	ILK, TAF10 (R65C)	Single nucleotide variant (missense variant +2 more)	Primary familial hypertrophic cardiomyopathy	GUncertain significance
Select item 463181	NM_004517.4(ILK):c.206C>T (p.Thr69Ile)	ILK, TAF10 (T69I)	Single nucleotide variant (missense variant +2 more)	Primary familial hypertrophic cardiomyopathy	GUncertain significance
Select item 1153984	NM_004517.4(ILK):c.207C>T (p.Thr69=)	ILK, TAF10	Single nucleotide variant (synonymous variant +2 more)	Primary familial hypertrophic cardiomyopathy	GLikely benign
Select item 569806	NM_004517.4(ILK):c.223G>C (p.Ala75Pro)	ILK, TAF10 (A75P)	Single nucleotide variant (missense variant +2 more)	Primary familial hypertrophic cardiomyopathy	GUncertain significance
Select item 1587685	NM_004517.4(ILK):c.231T>C (p.His77=)	ILK, TAF10	Single nucleotide variant (synonymous variant +2 more)	Inborn genetic diseases +1 more	GLikely benign
Select item 668148	NM_004517.4(ILK):c.234A>G (p.Gly78=)	ILK, TAF10	Single nucleotide variant (synonymous variant +2 more)	Primary familial hypertrophic cardiomyopathy +1 more	GLikely benign
Select item 656354	NM_004517.4(ILK):c.236A>T (p.His79Leu)	ILK, TAF10 (H79L)	Single nucleotide variant (missense variant +2 more)	Primary familial hypertrophic cardiomyopathy	GUncertain significance
Select item 2147915	NM_004517.4(ILK):c.238C>T (p.Arg80Cys)	ILK, TAF10 (R80C)	Single nucleotide variant (missense variant +2 more)	Primary familial hypertrophic cardiomyopathy	GUncertain significance
Select item 2771515	NM_004517.4(ILK):c.244A>G (p.Ile82Val)	ILK, TAF10 (I82V)	Single nucleotide variant (missense variant +2 more)	Primary familial hypertrophic cardiomyopathy	GUncertain significance
Select item 2813165	NM_004517.4(ILK):c.252_255+9dup	ILK, TAF10	Duplication (3 prime UTR variant +2 more)	Primary familial hypertrophic cardiomyopathy	GUncertain significance
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 862792	NM_006284.4(TAF10):c.*2708T>C	ILK, TAF10	Single nucleotide variant (3 prime UTR variant +1 more)	Primary familial hypertrophic cardiomyopathy	GUncertain significance
Select item 389142	NM_006284.4(TAF10):c.*2707G>A	ILK, TAF10	Single nucleotide variant (3 prime UTR variant +1 more)	Primary familial hypertrophic cardiomyopathy +1 more	GLikely benign
Select item 386494	NM_006284.4(TAF10):c.*2701T>C	ILK, TAF10	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +1 more	GLikely benign
Select item 2718550	NM_006284.4(TAF10):c.*2694A>C	ILK, TAF10	Single nucleotide variant (3 prime UTR variant +1 more)	Primary familial hypertrophic cardiomyopathy	GLikely benign
Select item 1395499	NM_006284.4(TAF10):c.*2692C>T	ILK, TAF10	Single nucleotide variant (3 prime UTR variant +1 more)	Primary familial hypertrophic cardiomyopathy	GLikely benign
Select item 1034721	NM_006284.4(TAF10):c.*2535C>T	ILK, TAF10	Single nucleotide variant (3 prime UTR variant +1 more)	Primary familial hypertrophic cardiomyopathy	GUncertain significance
Select item 2078496	NM_004517.4(ILK):c.261G>A (p.Leu87=)	ILK, TAF10	Single nucleotide variant (synonymous variant +2 more)	Primary familial hypertrophic cardiomyopathy	GLikely benign
Select item 1963317	NM_004517.4(ILK):c.264G>C (p.Gln88His)	ILK, TAF10 (Q88H)	Single nucleotide variant (missense variant +2 more)	Primary familial hypertrophic cardiomyopathy	GUncertain significance
Select item 1980908	NM_004517.4(ILK):c.266A>C (p.Tyr89Ser)	ILK, TAF10 (Y89S)	Single nucleotide variant (missense variant +2 more)	Primary familial hypertrophic cardiomyopathy	GUncertain significance
Select item 2013818	NM_004517.4(ILK):c.274G>A (p.Asp92Asn)	ILK, TAF10 (D92N)	Single nucleotide variant (missense variant +2 more)	Primary familial hypertrophic cardiomyopathy	GUncertain significance
Select item 418259	NM_004517.4(ILK):c.277A>G (p.Ile93Val)	TAF10, ILK (I93V)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases +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)	not specified +2 more	GLikely benign
Select item 379141	NM_004517.4(ILK):c.282T>C (p.Asn94=)	ILK, TAF10	Single nucleotide variant (synonymous variant +2 more)	Inborn genetic diseases +2 more	GBenign/Likely benign
Select item 1646085	NM_004517.4(ILK):c.288G>A (p.Val96=)	ILK, TAF10	Single nucleotide variant (synonymous variant +2 more)	Primary familial hypertrophic cardiomyopathy	GLikely benign
Select item 942211	NM_004517.4(ILK):c.296A>C (p.His99Pro)	ILK, TAF10 (H99P)	Single nucleotide variant (missense variant +2 more)	Primary familial hypertrophic cardiomyopathy	GUncertain significance
Select item 137588	NM_004517.4(ILK):c.297C>T (p.His99=)	ILK, TAF10	Single nucleotide variant (synonymous variant +2 more)	Inborn genetic diseases +2 more	GBenign/Likely benign
Select item 463182	NM_004517.4(ILK):c.337G>T (p.Asp113Tyr)	ILK, TAF10 (D113Y)	Single nucleotide variant (missense variant +2 more)	Primary familial hypertrophic cardiomyopathy	GUncertain significance
Select item 385263	NM_006284.4(TAF10):c.*2423G>A	ILK, TAF10	Single nucleotide variant (3 prime UTR variant +1 more)	not specified +1 more	GLikely benign
Select item 1637758	NM_006284.4(TAF10):c.*2415T>C	ILK, TAF10	Single nucleotide variant (intron variant +1 more)	Primary familial hypertrophic cardiomyopathy	GLikely benign
Select item 387190	NM_006284.4(TAF10):c.*2414T>A	ILK, TAF10	Single nucleotide variant (3 prime UTR variant +1 more)	not specified +1 more	GLikely benign
Select item 698649	NM_006284.4(TAF10):c.*2237A>C	ILK, TAF10	Single nucleotide variant (3 prime UTR variant +1 more)	Primary familial hypertrophic cardiomyopathy	GLikely benign
Select item 1664109	NM_006284.4(TAF10):c.*2236G>A	ILK, TAF10	Single nucleotide variant (3 prime UTR variant +1 more)	Primary familial hypertrophic cardiomyopathy	GLikely benign
Select item 1416430	NM_004517.4(ILK):c.352G>A (p.Asp118Asn)	ILK, TAF10 (D118N)	Single nucleotide variant (missense variant +3 more)	Primary familial hypertrophic cardiomyopathy	GUncertain significance
Select item 2149099	NM_004517.4(ILK):c.354C>T (p.Asp118=)	ILK, TAF10	Single nucleotide variant (synonymous variant +3 more)	Primary familial hypertrophic cardiomyopathy	GLikely benign
Select item 1733583	NM_004517.4(ILK):c.364A>T (p.Asn122Tyr)	ILK, TAF10 (N122Y)	Single nucleotide variant (missense variant +3 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1364215	NM_004517.4(ILK):c.370G>T (p.Ala124Ser)	ILK, TAF10 (A124S)	Single nucleotide variant (missense variant +3 more)	Primary familial hypertrophic cardiomyopathy	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 2150592	NM_004517.4(ILK):c.377T>C (p.Val126Ala)	ILK, TAF10 (V126A)	Single nucleotide variant (missense variant +3 more)	Primary familial hypertrophic cardiomyopathy	GUncertain significance
Select item 1542427	NM_004517.4(ILK):c.387T>C (p.Cys129=)	ILK, TAF10	Single nucleotide variant (synonymous variant +3 more)	Primary familial hypertrophic cardiomyopathy	GLikely benign
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 1513609	NM_004517.4(ILK):c.395A>G (p.Tyr132Cys)	ILK, TAF10 (Y132C)	Single nucleotide variant (missense variant +3 more)	Primary familial hypertrophic cardiomyopathy	GUncertain significance
Select item 2428206	NM_004517.4(ILK):c.410T>C (p.Val137Ala)	ILK, TAF10 (V137A +1 more)	Single nucleotide variant (missense variant +2 more)	Primary familial hypertrophic cardiomyopathy	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)	Primary familial hypertrophic cardiomyopathy +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)	Inborn genetic diseases +1 more	GUncertain significance
Select item 860039	NM_004517.4(ILK):c.428C>T (p.Pro143Leu)	ILK, TAF10 (P9L +1 more)	Single nucleotide variant (missense variant +2 more)	Primary familial hypertrophic cardiomyopathy	GUncertain significance
Select item 201785	NM_004517.4(ILK):c.435A>C (p.Arg145Ser)	ILK, TAF10 (R145S +1 more)	Single nucleotide variant (missense variant +2 more)	not specified +2 more	GBenign/Likely benign
Select item 1422987	NM_004517.4(ILK):c.436G>C (p.Glu146Gln)	ILK, TAF10 (E146Q +1 more)	Single nucleotide variant (missense variant +2 more)	Primary familial hypertrophic cardiomyopathy	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)	Long QT syndrome +3 more	GUncertain significance
Select item 2812211	NM_006284.4(TAF10):c.*2129dup	ILK, TAF10	Duplication (3 prime UTR variant +1 more)	Primary familial hypertrophic cardiomyopathy	GUncertain significance
Select item 1166101	NM_006284.4(TAF10):c.2120_2123=	ILK, TAF10	Variation (no sequence alteration +1 more)	Primary familial hypertrophic cardiomyopathy	GBenign
Select item 1625769	NM_006284.4(TAF10):c.*2121G>C	ILK, TAF10	Single nucleotide variant (3 prime UTR variant +1 more)	Primary familial hypertrophic cardiomyopathy	GLikely benign
Select item 2195117	NM_006284.4(TAF10):c.2052_2055del	ILK, TAF10	Deletion (3 prime UTR variant +1 more)	Primary familial hypertrophic cardiomyopathy	GLikely benign
Select item 1612706	NM_006284.4(TAF10):c.*2053C>T	ILK, TAF10	Single nucleotide variant (3 prime UTR variant +1 more)	Primary familial hypertrophic cardiomyopathy	GLikely benign
Select item 1631753	NM_006284.4(TAF10):c.*2049A>G	ILK, TAF10	Single nucleotide variant (3 prime UTR variant +1 more)	Primary familial hypertrophic cardiomyopathy	GLikely benign
Select item 2020667	NM_006284.4(TAF10):c.*2041A>G	ILK, TAF10	Single nucleotide variant (3 prime UTR variant +1 more)	Primary familial hypertrophic cardiomyopathy	GUncertain significance
Select item 966619	NM_004517.4(ILK):c.451C>T (p.Arg151Trp)	ILK, TAF10 (R151W +1 more)	Single nucleotide variant (synonymous variant +2 more)	Primary familial hypertrophic cardiomyopathy	GUncertain significance
Select item 850465	NM_004517.4(ILK):c.452G>A (p.Arg151Gln)	ILK, TAF10 (G119R +2 more)	Single nucleotide variant (missense variant +1 more)	Primary familial hypertrophic cardiomyopathy	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)	Inborn genetic diseases +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)	Inborn genetic diseases +1 more	GLikely benign
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 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	GUncertain significance

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