ClinVar for Gene (Select 3611) - ClinVar - NCBI

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

Links from Gene

Items: 1 to 100 of 415

<< First< Prev

Page of 5

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3224312	NM_004517.4(ILK):c.953A>T (p.His318Leu)	ILK, TAF10 (H184L +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
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 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 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 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 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 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 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 3224304	NM_004517.4(ILK):c.1245A>G (p.Pro415=)	ILK, TAF10	Single nucleotide variant (synonymous variant +1 more)	not specified	GLikely benign
Select item 3224303	NM_004517.4(ILK):c.1204A>G (p.Met402Val)	ILK, TAF10 (M268V +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3224302	NM_004517.4(ILK):c.1153C>A (p.Leu385Met)	ILK, TAF10 (L251M +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3224301	NM_004517.4(ILK):c.1068A>T (p.Val356=)	ILK, TAF10	Single nucleotide variant (synonymous variant +1 more)	not specified	GLikely benign
Select item 3224300	NM_004517.4(ILK):c.1037G>A (p.Cys346Tyr)	ILK, TAF10 (C212Y +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 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 3058794	NM_004517.4(ILK):c.648C>T (p.Asp216=)	ILK, TAF10	Single nucleotide variant (synonymous variant +1 more)	ILK-related disorder	GLikely benign
Select item 3021508	NM_004517.4(ILK):c.838G>A (p.Val280Ile)	ILK, TAF10 (V219I +2 more)	Single nucleotide variant (missense variant +1 more)	Primary familial hypertrophic cardiomyopathy	GUncertain significance
Select item 3006070	NM_006284.4(TAF10):c.*1074C>T	ILK, TAF10	Single nucleotide variant (3 prime UTR variant +1 more)	Primary familial hypertrophic cardiomyopathy	GUncertain significance
Select item 2981798	NM_004517.4(ILK):c.489A>G (p.Pro163=)	ILK, TAF10 (H131R)	Single nucleotide variant (synonymous variant +2 more)	Primary familial hypertrophic cardiomyopathy	GLikely benign
Select item 2970852	NM_004517.4(ILK):c.1169T>C (p.Val390Ala)	ILK, TAF10 (V256A +2 more)	Single nucleotide variant (missense variant +1 more)	Primary familial hypertrophic cardiomyopathy	GUncertain significance
Select item 2958250	NM_004517.4(ILK):c.1123A>C (p.Met375Leu)	ILK, TAF10 (M314L +2 more)	Single nucleotide variant (3 prime UTR variant +1 more)	Primary familial hypertrophic cardiomyopathy	GUncertain significance
Select item 2919202	NM_004517.4(ILK):c.1136C>T (p.Ala379Val)	ILK, TAF10 (A245V +2 more)	Single nucleotide variant (missense variant +1 more)	Primary familial hypertrophic cardiomyopathy	GUncertain significance
Select item 2917456	NM_006284.4(TAF10):c.*626A>G	ILK, TAF10	Single nucleotide variant (3 prime UTR variant +1 more)	Primary familial hypertrophic cardiomyopathy	GLikely benign
Select item 2917251	NM_004517.4(ILK):c.567C>T (p.Asp189=)	ILK, TAF10	Single nucleotide variant (synonymous variant +2 more)	Primary familial hypertrophic cardiomyopathy	GUncertain significance
Select item 2917244	NM_004517.4(ILK):c.1228C>T (p.Arg410Trp)	ILK, TAF10 (R276W +2 more)	Single nucleotide variant (missense variant +1 more)	Primary familial hypertrophic cardiomyopathy	GUncertain significance
Select item 2915866	NM_004517.4(ILK):c.738G>A (p.Ser246=)	ILK, TAF10	Single nucleotide variant (synonymous variant +1 more)	Primary familial hypertrophic cardiomyopathy	GUncertain significance
Select item 2914213	NM_006284.4(TAF10):c.1215_1217del	ILK, TAF10	Deletion (3 prime UTR variant +1 more)	Primary familial hypertrophic cardiomyopathy	GLikely benign
Select item 2910649	NM_004517.4(ILK):c.819G>C (p.Pro273=)	ILK, TAF10	Single nucleotide variant (synonymous variant +1 more)	Primary familial hypertrophic cardiomyopathy	GLikely benign
Select item 2887400	NM_006284.4(TAF10):c.*1867G>A	ILK, TAF10	Single nucleotide variant (3 prime UTR variant +1 more)	Primary familial hypertrophic cardiomyopathy	GLikely benign
Select item 2882039	NM_004517.4(ILK):c.690G>A (p.Arg230=)	ILK, TAF10	Single nucleotide variant (synonymous variant +1 more)	Primary familial hypertrophic cardiomyopathy	GLikely benign
Select item 2877417	NM_004517.4(ILK):c.995C>T (p.Thr332Ile)	ILK, TAF10 (T198I +2 more)	Single nucleotide variant (missense variant +1 more)	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 2854319	NM_004517.4(ILK):c.1305G>A (p.Lys435=)	ILK, TAF10	Single nucleotide variant (synonymous variant +1 more)	Primary familial hypertrophic cardiomyopathy	GLikely benign
Select item 2849397	NM_006284.4(TAF10):c.*1424G>A	ILK, TAF10	Single nucleotide variant (intron variant +1 more)	Primary familial hypertrophic cardiomyopathy	GLikely benign
Select item 2836082	NM_006284.4(TAF10):c.*629C>G	ILK, TAF10	Single nucleotide variant (3 prime UTR variant +1 more)	Primary familial hypertrophic cardiomyopathy	GLikely benign
Select item 2834217	NM_004517.4(ILK):c.944T>C (p.Ile315Thr)	ILK, TAF10 (I181T +2 more)	Single nucleotide variant (missense variant +1 more)	Primary familial hypertrophic cardiomyopathy	GUncertain significance
Select item 2833823	NM_004517.4(ILK):c.1031T>A (p.Phe344Tyr)	ILK, TAF10 (F283Y +2 more)	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 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 2812211	NM_006284.4(TAF10):c.*2129dup	ILK, TAF10	Duplication (3 prime UTR variant +1 more)	Primary familial hypertrophic cardiomyopathy	GUncertain significance
Select item 2807874	NM_004517.4(ILK):c.958C>T (p.Leu320Phe)	TAF10, ILK (L259F +2 more)	Single nucleotide variant (missense variant +1 more)	Primary familial hypertrophic cardiomyopathy	GUncertain significance
Select item 2805084	NM_006284.4(TAF10):c.*1636T>G	ILK, TAF10	Single nucleotide variant (3 prime UTR variant +1 more)	Primary familial hypertrophic cardiomyopathy	GLikely benign
Select item 2791864	NM_006284.4(TAF10):c.*1064C>T	ILK, TAF10	Single nucleotide variant (intron variant +1 more)	Primary familial hypertrophic cardiomyopathy	GLikely benign
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 2750792	NM_006284.4(TAF10):c.*1210C>G	ILK, TAF10	Single nucleotide variant (3 prime UTR variant +1 more)	Primary familial hypertrophic cardiomyopathy	GLikely benign
Select item 2749127	NM_006284.4(TAF10):c.*1000A>G	ILK, TAF10	Single nucleotide variant (3 prime UTR variant +1 more)	Primary familial hypertrophic cardiomyopathy	GLikely benign
Select item 2745554	NM_004517.4(ILK):c.1137A>T (p.Ala379=)	ILK, TAF10	Single nucleotide variant (synonymous variant +1 more)	Primary familial hypertrophic cardiomyopathy	GLikely benign
Select item 2744716	NM_004517.4(ILK):c.529C>T (p.Pro177Ser)	ILK, TAF10 (P177S +1 more)	Single nucleotide variant (missense variant +2 more)	Primary familial hypertrophic cardiomyopathy	GUncertain significance
Select item 2740773	NM_004517.4(ILK):c.1356G>A (p.Lys452=)	ILK, TAF10	Single nucleotide variant (synonymous variant +1 more)	Primary familial hypertrophic cardiomyopathy	GLikely benign
Select item 2728122	NM_006284.4(TAF10):c.*1747del	ILK, TAF10	Deletion (3 prime UTR variant +1 more)	Primary familial hypertrophic cardiomyopathy	GLikely benign
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 2724531	NM_004517.4(ILK):c.542C>T (p.Thr181Ile)	ILK, TAF10 (T181I +1 more)	Single nucleotide variant (missense variant +2 more)	Primary familial hypertrophic cardiomyopathy	GUncertain significance
Select item 2723311	NM_004517.4(ILK):c.527G>A (p.Arg176Gln)	ILK, TAF10 (R176Q +2 more)	Single nucleotide variant (missense variant +1 more)	Primary familial hypertrophic cardiomyopathy	GUncertain significance
Select item 2719448	NM_006284.4(TAF10):c.*1413A>G	ILK, TAF10	Single nucleotide variant (3 prime UTR variant +1 more)	Primary familial hypertrophic cardiomyopathy	GUncertain significance
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 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 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 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 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 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 2566098	NM_004517.4(ILK):c.1216T>C (p.Leu406=)	ILK, TAF10	Single nucleotide variant (synonymous variant +1 more)	Primary familial hypertrophic cardiomyopathy +1 more	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 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 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 2566094	NM_004517.4(ILK):c.1090A>C (p.Lys364Gln)	ILK, TAF10 (K230Q +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2503522	GRCh37/hg19 11p15.5-15.4(chr11:230615-8821443)x3	C11orf42, MRGPRG +210 more	Copy number gain	Russell-Silver syndrome	GPathogenic
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 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 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 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 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 2451634	NM_004517.4(ILK):c.1093C>G (p.Pro365Ala)	ILK, TAF10 (P365A +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
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 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 2424751	NC_000011.9:g.(?_6625502)_(6662844_?)dup	DCHS1, ILK +2 more	Duplication	not provided	GUncertain significance
Select item 2423019	NC_000011.9:g.(?_6411829)_(6662844_?)dup	APBB1, ARFIP2 +10 more	Duplication	not provided	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 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 2203567	NM_006284.4(TAF10):c.*1425G>A	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 2190128	NM_004517.4(ILK):c.1229G>A (p.Arg410Gln)	ILK, TAF10 (R276Q +2 more)	Single nucleotide variant (missense variant +1 more)	Primary familial hypertrophic cardiomyopathy	GUncertain significance
Select item 2189218	NM_004517.4(ILK):c.961A>G (p.Asn321Asp)	ILK, TAF10 (N260D +2 more)	Single nucleotide variant (missense variant +1 more)	Primary familial hypertrophic cardiomyopathy	GUncertain significance
Select item 2180487	NM_004517.4(ILK):c.972T>C (p.Ser324=)	ILK, TAF10	Single nucleotide variant (synonymous variant +1 more)	Primary familial hypertrophic cardiomyopathy	GLikely benign
Select item 2178650	NM_006284.4(TAF10):c.*1430G>C	ILK, TAF10	Single nucleotide variant (3 prime UTR variant +1 more)	Primary familial hypertrophic cardiomyopathy	GUncertain significance
Select item 2167376	NM_006284.4(TAF10):c.*1761G>C	ILK, TAF10	Single nucleotide variant (3 prime UTR variant +1 more)	Primary familial hypertrophic cardiomyopathy	GUncertain significance
Select item 2162940	NM_004517.4(ILK):c.649A>T (p.Ile217Phe)	ILK, TAF10 (I156F +2 more)	Single nucleotide variant (missense variant +1 more)	Primary familial hypertrophic cardiomyopathy	GUncertain significance
Select item 2154724	NM_004517.4(ILK):c.518C>T (p.Thr173Ile)	ILK, TAF10 (P141S +2 more)	Single nucleotide variant (missense variant +1 more)	Primary familial hypertrophic cardiomyopathy	GUncertain significance
Select item 2152913	NM_004517.4(ILK):c.865G>A (p.Val289Met)	ILK, TAF10 (V289M +2 more)	Single nucleotide variant (3 prime UTR variant +1 more)	Primary familial hypertrophic cardiomyopathy	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 2150521	NM_004517.4(ILK):c.794C>T (p.Pro265Leu)	ILK, TAF10 (P265L +2 more)	Single nucleotide variant (missense variant +1 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 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 2133983	NM_004517.4(ILK):c.581A>C (p.Asn194Thr)	ILK, TAF10 (N60T +1 more)	Single nucleotide variant (missense variant +2 more)	Primary familial hypertrophic cardiomyopathy	GUncertain significance
Select item 2124502	NM_004517.4(ILK):c.700G>A (p.Asp234Asn)	ILK, TAF10 (D100N +2 more)	Single nucleotide variant (missense variant +1 more)	Primary familial hypertrophic cardiomyopathy	GUncertain significance
Select item 2124280	NM_006284.4(TAF10):c.*1942A>G	ILK, TAF10	Single nucleotide variant (3 prime UTR variant +1 more)	Primary familial hypertrophic cardiomyopathy	GLikely benign
Select item 2123788	NM_006284.4(TAF10):c.*478A>G	ILK, TAF10	Single nucleotide variant (3 prime UTR variant +1 more)	Primary familial hypertrophic cardiomyopathy	GLikely benign
Select item 2108691	NM_004517.4(ILK):c.619C>G (p.Leu207Val)	ILK, TAF10 (L146V +2 more)	Single nucleotide variant (missense 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 2078334	NM_004517.4(ILK):c.1105_1108del (p.Asn369fs)	ILK, TAF10 (N235fs +2 more)	Deletion (frameshift variant +1 more)	Primary familial hypertrophic cardiomyopathy +1 more	GUncertain significance
Select item 2063674	NM_006284.4(TAF10):c.*477A>T	ILK, TAF10	Single nucleotide variant (3 prime UTR variant +1 more)	Primary familial hypertrophic cardiomyopathy	GLikely benign

<< First< Prev

Page of 5