84630[Gene ID] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155430	GRCh38/hg38 6p25.3-12.3(chr6:156974-46789291)x3	ILRUN-AS1, IP6K3 +2582 more	Copy number gain	See cases	GPathogenic
Select item 58427	GRCh38/hg38 6p21.2-21.1(chr6:37777369-45653843)x1	LOC129996415, LOC129996416 +435 more	Copy number loss	See cases	GPathogenic
Select item 58428	GRCh38/hg38 6p21.1-12.3(chr6:41638061-46512949)x1	LOC132089395, LOC132089396 +324 more	Copy number loss	See cases	GPathogenic
Select item 57326	GRCh38/hg38 6p21.1(chr6:42368558-44590544)x1	AARS2, ABCC10 +221 more	Copy number loss	See cases	GPathogenic
Select item 2323189	NM_032538.3(TTBK1):c.28G>C (p.Asp10His)	TTBK1 (D10H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2333976	NM_032538.3(TTBK1):c.31G>A (p.Glu11Lys)	TTBK1 (E11K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3329744	NM_032538.3(TTBK1):c.151G>T (p.Ala51Ser)	TTBK1 (A51S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2476107	NM_032538.3(TTBK1):c.159C>G (p.Asp53Glu)	TTBK1 (D53E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2336511	NM_032538.3(TTBK1):c.191T>C (p.Val64Ala)	TTBK1 (V64A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2368591	NM_032538.3(TTBK1):c.280A>G (p.Ile94Val)	TTBK1 (I94V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 218818	NM_032538.3(TTBK1):c.331-3C>T	TTBK1	Single nucleotide variant (intron variant)	not provided +1 more	GUncertain significance
Select item 2570679	NM_032538.3(TTBK1):c.367C>T (p.Arg123Ter)	TTBK1 (R123*)	Single nucleotide variant (nonsense)	Mild global developmental delay +5 more	GUncertain significance
Select item 783462	NM_032538.3(TTBK1):c.549C>T (p.Tyr183=)	TTBK1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2656589	NM_032538.3(TTBK1):c.576C>T (p.Pro192=)	TTBK1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2268495	NM_032538.3(TTBK1):c.629C>T (p.Ala210Val)	TTBK1 (A210V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2529106	NM_032538.3(TTBK1):c.640C>T (p.Arg214Trp)	TTBK1 (R214W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 984591	NM_032538.3(TTBK1):c.735+1G>T	TTBK1	Single nucleotide variant (splice donor variant)	Neurodevelopmental abnormality	GLikely benign
Select item 208398	NM_032538.3(TTBK1):c.773G>A (p.Arg258Gln)	TTBK1 (R258Q)	Single nucleotide variant (missense variant)	Childhood-onset schizophrenia	GLikely pathogenic
Select item 2529169	NM_032538.3(TTBK1):c.946G>A (p.Asp316Asn)	TTBK1 (D316N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3184040	NM_032538.3(TTBK1):c.956T>C (p.Leu319Pro)	TTBK1 (L319P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3329742	NM_032538.3(TTBK1):c.977C>G (p.Pro326Arg)	TTBK1 (P326R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2656590	NM_032538.3(TTBK1):c.1104G>A (p.Glu368=)	TTBK1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2624301	NM_032538.3(TTBK1):c.1171C>A (p.His391Asn)	TTBK1 (H391N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3184011	NM_032538.3(TTBK1):c.1177G>A (p.Gly393Arg)	TTBK1 (G393R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2343478	NM_032538.3(TTBK1):c.1243G>A (p.Gly415Ser)	TTBK1 (G415S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2228349	NM_032538.3(TTBK1):c.1277G>A (p.Arg426Gln)	TTBK1 (R426Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2348979	NM_032538.3(TTBK1):c.1315C>G (p.Pro439Ala)	TTBK1 (P439A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2392670	NM_032538.3(TTBK1):c.1354C>T (p.Arg452Trp)	TTBK1 (R452W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2594372	NM_032538.3(TTBK1):c.1355G>A (p.Arg452Gln)	TTBK1 (R452Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3329747	NM_032538.3(TTBK1):c.1360G>A (p.Val454Met)	TTBK1 (V454M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3184012	NM_032538.3(TTBK1):c.1405G>A (p.Val469Met)	TTBK1 (V469M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3184013	NM_032538.3(TTBK1):c.1419G>C (p.Glu473Asp)	TTBK1 (E473D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3184014	NM_032538.3(TTBK1):c.1477C>G (p.Pro493Ala)	TTBK1 (P493A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2540625	NM_032538.3(TTBK1):c.1514A>G (p.Asp505Gly)	TTBK1 (D505G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3184015	NM_032538.3(TTBK1):c.1532G>T (p.Arg511Leu)	TTBK1 (R511L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3184016	NM_032538.3(TTBK1):c.1576G>A (p.Ala526Thr)	TTBK1 (A526T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 784087	NM_032538.3(TTBK1):c.1614C>T (p.Phe538=)	TTBK1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2618410	NM_032538.3(TTBK1):c.1693G>A (p.Gly565Ser)	TTBK1 (G565S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3184017	NM_032538.3(TTBK1):c.1723C>T (p.Arg575Trp)	TTBK1 (R575W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2525035	NM_032538.3(TTBK1):c.1739A>G (p.Glu580Gly)	TTBK1 (E580G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3184018	NM_032538.3(TTBK1):c.1751G>A (p.Arg584Gln)	TTBK1 (R584Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2340352	NM_032538.3(TTBK1):c.1777G>A (p.Val593Ile)	TTBK1 (V593I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 781630	NM_032538.3(TTBK1):c.1838C>T (p.Pro613Leu)	TTBK1 (P613L)	Single nucleotide variant (missense variant)	not provided	GBenign/Likely benign
Select item 3184019	NM_032538.3(TTBK1):c.1853C>T (p.Pro618Leu)	TTBK1 (P618L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1341645	NM_032538.3(TTBK1):c.1868G>C (p.Gly623Ala)	TTBK1 (G623A)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2314438	NM_032538.3(TTBK1):c.1876C>T (p.Arg626Cys)	TTBK1 (R626C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3329746	NM_032538.3(TTBK1):c.1886C>T (p.Thr629Met)	TTBK1 (T629M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2589559	NM_032538.3(TTBK1):c.1900A>T (p.Thr634Ser)	TTBK1 (T634S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2207468	NM_032538.3(TTBK1):c.1939C>T (p.Pro647Ser)	TTBK1 (P647S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3329737	NM_032538.3(TTBK1):c.1943G>T (p.Arg648Leu)	TTBK1 (R648L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2237468	NM_032538.3(TTBK1):c.2005C>T (p.Pro669Ser)	TTBK1 (P669S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2364351	NM_032538.3(TTBK1):c.2030G>A (p.Arg677Gln)	TTBK1 (R677Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 792039	NM_032538.3(TTBK1):c.2037G>A (p.Val679=)	TTBK1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2656591	NM_032538.3(TTBK1):c.2080G>A (p.Asp694Asn)	TTBK1 (D694N)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2557456	NM_032538.3(TTBK1):c.2087G>C (p.Arg696Pro)	TTBK1 (R696P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2288297	NM_032538.3(TTBK1):c.2089G>A (p.Glu697Lys)	TTBK1 (E697K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3329739	NM_032538.3(TTBK1):c.2090A>C (p.Glu697Ala)	TTBK1 (E697A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2602684	NM_032538.3(TTBK1):c.2093G>A (p.Arg698Gln)	TTBK1 (R698Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2656592	NM_032538.3(TTBK1):c.2099G>A (p.Arg700Gln)	TTBK1 (R700Q)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2279089	NM_032538.3(TTBK1):c.2104C>T (p.Leu702Phe)	TTBK1 (L702F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3329736	NM_032538.3(TTBK1):c.2141T>C (p.Leu714Pro)	TTBK1 (L714P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3329733	NM_032538.3(TTBK1):c.2156A>C (p.Gln719Pro)	TTBK1 (Q719P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3184021	NM_032538.3(TTBK1):c.2173G>C (p.Val725Leu)	TTBK1 (V725L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2468160	NM_032538.3(TTBK1):c.2234A>G (p.Glu745Gly)	TTBK1 (E745G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3329741	NM_032538.3(TTBK1):c.2266G>A (p.Glu756Lys)	TTBK1 (E756K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3184023	NM_032538.3(TTBK1):c.2330C>T (p.Ala777Val)	TTBK1 (A777V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2530108	NM_032538.3(TTBK1):c.2335G>T (p.Gly779Trp)	TTBK1 (G779W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2532633	NM_032538.3(TTBK1):c.2338G>C (p.Glu780Gln)	TTBK1 (E780Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3184024	NM_032538.3(TTBK1):c.2341G>C (p.Val781Leu)	TTBK1 (V781L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3184025	NM_032538.3(TTBK1):c.2396G>A (p.Arg799Gln)	TTBK1 (R799Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2352470	NM_032538.3(TTBK1):c.2455C>T (p.Arg819Trp)	TTBK1 (R819W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2219791	NM_032538.3(TTBK1):c.2542C>T (p.Pro848Ser)	TTBK1 (P848S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2394269	NM_032538.3(TTBK1):c.2600C>T (p.Pro867Leu)	TTBK1 (P867L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2299819	NM_032538.3(TTBK1):c.2607T>G (p.His869Gln)	TTBK1 (H869Q)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3329740	NM_032538.3(TTBK1):c.2612G>A (p.Arg871Gln)	TTBK1 (R871Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2212970	NM_032538.3(TTBK1):c.2719G>A (p.Gly907Arg)	TTBK1 (G907R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2550022	NM_032538.3(TTBK1):c.2750C>T (p.Ala917Val)	TTBK1 (A917V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 781631	NM_032538.3(TTBK1):c.2820C>T (p.Asn940=)	TTBK1	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 2511530	NM_032538.3(TTBK1):c.2847G>T (p.Leu949Phe)	TTBK1 (L949F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2351247	NM_032538.3(TTBK1):c.2866G>A (p.Ala956Thr)	TTBK1 (A956T)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2525111	NM_032538.3(TTBK1):c.2927G>A (p.Arg976Gln)	TTBK1 (R976Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3184026	NM_032538.3(TTBK1):c.2944G>A (p.Gly982Ser)	TTBK1 (G982S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3329735	NM_032538.3(TTBK1):c.2950G>T (p.Ala984Ser)	TTBK1 (A984S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3329743	NM_032538.3(TTBK1):c.2957C>T (p.Ser986Leu)	TTBK1 (S986L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2285788	NM_032538.3(TTBK1):c.2962C>A (p.Leu988Met)	TTBK1 (L988M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2622944	NM_032538.3(TTBK1):c.3001G>C (p.Ala1001Pro)	TTBK1 (A1001P)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2366931	NM_032538.3(TTBK1):c.3008G>A (p.Arg1003Gln)	TTBK1 (R1003Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2511531	NM_032538.3(TTBK1):c.3043C>A (p.Pro1015Thr)	TTBK1 (P1015T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3184027	NM_032538.3(TTBK1):c.3058C>T (p.Leu1020Phe)	TTBK1 (L1020F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3184028	NM_032538.3(TTBK1):c.3089T>C (p.Leu1030Pro)	TTBK1 (L1030P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3184029	NM_032538.3(TTBK1):c.3131G>A (p.Arg1044His)	TTBK1 (R1044H)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3184030	NM_032538.3(TTBK1):c.3145G>A (p.Gly1049Ser)	TTBK1 (G1049S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 784088	NM_032538.3(TTBK1):c.3159G>A (p.Arg1053=)	TTBK1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2469256	NM_032538.3(TTBK1):c.3163C>T (p.Arg1055Cys)	TTBK1 (R1055C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3329738	NM_032538.3(TTBK1):c.3232C>T (p.Arg1078Trp)	TTBK1 (R1078W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2249437	NM_032538.3(TTBK1):c.3233G>A (p.Arg1078Gln)	TTBK1 (R1078Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2206595	NM_032538.3(TTBK1):c.3247G>T (p.Ala1083Ser)	TTBK1 (A1083S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3184031	NM_032538.3(TTBK1):c.3250C>T (p.Arg1084Trp)	TTBK1 (R1084W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2214918	NM_032538.3(TTBK1):c.3254C>T (p.Pro1085Leu)	TTBK1 (P1085L)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3184032	NM_032538.3(TTBK1):c.3356G>A (p.Arg1119His)	TTBK1 (R1119H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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