ILK[gene] - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 1 to 100 of 421

<< First< Prev

Page of 5

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 151263	GRCh38/hg38 11p15.5-15.4(chr11:61793-10727969)x3	DENND5A, DNHD1 +723 more	Copy number gain	See cases	GPathogenic
Select item 144515	GRCh38/hg38 11p15.5-15.1(chr11:446754-18904742)x3	TRIM22, TRIM3 +917 more	Copy number gain	See cases	GPathogenic
Select item 147641	GRCh38/hg38 11p15.4(chr11:6261582-6637999)x3	APBB1, ARFIP2 +41 more	Copy number gain	See cases	GPathogenic
Select item 1316407	NC_000011.10:g.6603573A>G	ILK, LOC130005199 +1 more	Single nucleotide variant (5 prime UTR variant)	not provided	GLikely benign
Select item 1277514	NC_000011.10:g.6603668G>A	ILK, LOC130005200	Single nucleotide variant	not provided	GBenign
Select item 671499	NM_004517.4(ILK):c.-129G>T	ILK, LOC130005200	Single nucleotide variant (5 prime UTR variant)	not provided	GBenign
Select item 383971	NM_004517.4(ILK):c.-113G>T	ILK, LOC130005200	Single nucleotide variant (5 prime UTR variant)	not specified	GLikely benign
Select item 385262	NM_004517.4(ILK):c.-109C>T	ILK, LOC130005200	Single nucleotide variant (5 prime UTR variant)	not specified	GLikely benign
Select item 137589	NM_004517.4(ILK):c.-108T>C	ILK, LOC130005200	Single nucleotide variant (5 prime UTR variant)	not specified	GBenign
Select item 381219	NM_004517.4(ILK):c.-105A>G	LOC130005200, ILK	Single nucleotide variant (5 prime UTR variant)	not specified	GLikely benign
Select item 1318053	NM_004517.4(ILK):c.-93+150G>C	ILK	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1317845	NM_004517.4(ILK):c.-92-95A>G	ILK	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 675791	NM_004517.4(ILK):c.-92-39A>G	ILK	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 509417	NM_004517.4(ILK):c.-16G>A	ILK, LOC130005201	Single nucleotide variant (5 prime UTR variant)	not specified	GLikely benign
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)	Primary familial hypertrophic cardiomyopathy +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 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 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=)	LOC130005201, ILK	Single nucleotide variant (synonymous variant +1 more)	not specified +1 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 201788	NM_004517.4(ILK):c.65A>G (p.Asn22Ser)	ILK, LOC130005201 (N22S)	Single nucleotide variant (missense variant +1 more)	not provided +3 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 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 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 1447650	NM_004517.4(ILK):c.79C>A (p.Leu27Ile)	LOC130005201, ILK (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 155798	NM_004517.4(ILK):c.86dup (p.Asp31fs)	ILK, LOC130005201 (D31fs)	Duplication (frameshift variant +1 more)	Primary familial hypertrophic cardiomyopathy	GUncertain significance
Select item 386910	NM_004517.4(ILK):c.89+3G>A	ILK, LOC130005201	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 1287701	NM_004517.4(ILK):c.90-234G>A	ILK, TAF10	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GBenign
Select item 1601475	NM_004517.4(ILK):c.90-17T>C	ILK, TAF10	Single nucleotide variant (3 prime UTR variant +1 more)	Primary familial hypertrophic cardiomyopathy	GBenign
Select item 698782	NM_004517.4(ILK):c.90-5C>T	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=)	ILK, TAF10	Single nucleotide variant (synonymous variant +2 more)	Primary familial hypertrophic cardiomyopathy	GLikely benign
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 1413619	NM_004517.4(ILK):c.110C>T (p.Pro37Leu)	ILK, TAF10 (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)	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 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 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 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)	TAF10, ILK (E44Q)	Single nucleotide variant (missense variant +2 more)	Primary familial hypertrophic cardiomyopathy +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)	Primary familial hypertrophic cardiomyopathy +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)	not provided +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 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)	Primary familial hypertrophic cardiomyopathy +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)	not specified +1 more	GLikely benign
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 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)	TAF10, ILK (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)	not specified +1 more	GLikely benign
Select item 201790	NM_004517.4(ILK):c.184G>A (p.Val62Ile)	TAF10, ILK (V62I)	Single nucleotide variant (missense variant +2 more)	Primary familial hypertrophic cardiomyopathy +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 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 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 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 208590	NM_004517.4(ILK):c.211del (p.Leu71fs)	TAF10, ILK (L71fs)	Deletion (frameshift 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 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 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 381754	NM_004517.4(ILK):c.219G>C (p.Leu73=)	ILK, TAF10	Single nucleotide variant (synonymous variant +2 more)	not specified	GLikely benign
Select item 515649	NM_004517.4(ILK):c.222A>T (p.Ala74=)	ILK, TAF10	Single nucleotide variant (synonymous variant +2 more)	not specified	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 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)	not provided +2 more	GLikely benign
Select item 668148	NM_004517.4(ILK):c.234A>G (p.Gly78=)	ILK, TAF10	Single nucleotide variant (synonymous variant +2 more)	not provided +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 +1 more	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 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)	not provided +2 more	GLikely benign
Select item 862792	NM_004517.4(ILK):c.255+3A>G	ILK, TAF10	Single nucleotide variant (3 prime UTR variant +1 more)	Primary familial hypertrophic cardiomyopathy	GUncertain significance
Select item 389142	NM_004517.4(ILK):c.255+4C>T	TAF10, ILK	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +1 more	GLikely benign
Select item 386494	NM_004517.4(ILK):c.255+10A>G	ILK, TAF10	Single nucleotide variant (3 prime UTR variant +1 more)	Primary familial hypertrophic cardiomyopathy +1 more	GLikely benign
Select item 2718550	NM_004517.4(ILK):c.255+17T>G	ILK, TAF10	Single nucleotide variant (3 prime UTR variant +1 more)	Primary familial hypertrophic cardiomyopathy	GLikely benign
Select item 1395499	NM_004517.4(ILK):c.255+19G>A	ILK, TAF10	Single nucleotide variant (3 prime UTR variant +1 more)	Primary familial hypertrophic cardiomyopathy	GLikely benign
Select item 672699	NM_004517.4(ILK):c.255+89G>A	TAF10, ILK	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GBenign
Select item 1034721	NM_004517.4(ILK):c.256-7G>A	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)	not specified +1 more	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)	ILK, TAF10 (I93V)	Single nucleotide variant (missense variant +2 more)	Primary familial hypertrophic cardiomyopathy +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 +1 more	GLikely benign
Select item 379141	NM_004517.4(ILK):c.282T>C (p.Asn94=)	ILK, TAF10	Single nucleotide variant (synonymous variant +2 more)	Primary familial hypertrophic cardiomyopathy +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)	not specified +1 more	GLikely benign

<< First< Prev

Page of 5