ClinVar for Gene (Select 22853) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3291008	NM_014916.4(LMTK2):c.356C>T (p.Ser119Leu)	LMTK2 (S119L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3291007	NM_014916.4(LMTK2):c.2760A>T (p.Glu920Asp)	LMTK2 (E920D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3291006	NM_014916.4(LMTK2):c.4078G>A (p.Asp1360Asn)	LMTK2 (D1360N)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3291005	NM_014916.4(LMTK2):c.4444T>C (p.Ser1482Pro)	LMTK2 (S1482P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3291004	NM_014916.4(LMTK2):c.637G>A (p.Val213Met)	LMTK2 (V213M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3291003	NM_014916.4(LMTK2):c.2042T>A (p.Ile681Lys)	LMTK2 (I681K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3291002	NM_014916.4(LMTK2):c.2447C>T (p.Pro816Leu)	LMTK2 (P816L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3291001	NM_014916.4(LMTK2):c.3782T>C (p.Ile1261Thr)	LMTK2 (I1261T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3291000	NM_014916.4(LMTK2):c.1232G>A (p.Arg411Gln)	LMTK2 (R411Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3290999	NM_014916.4(LMTK2):c.3732C>G (p.Asp1244Glu)	LMTK2 (D1244E)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3290998	NM_014916.4(LMTK2):c.1601C>T (p.Pro534Leu)	LMTK2 (P534L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3245893	NC_000007.13:g.(?_94024344)_(100860555_?)del	ACHE, ACTL6B +106 more	Deletion	not provided	GPathogenic
Select item 3245876	NC_000007.13:g.(?_97816327)_(98493463_?)dup	BAIAP2L1, BHLHA15 +6 more	Duplication	not provided	GUncertain significance
Select item 3119423	NM_014916.4(LMTK2):c.742G>C (p.Glu248Gln)	LMTK2 (E248Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3119422	NM_014916.4(LMTK2):c.643G>C (p.Glu215Gln)	LMTK2 (E215Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3119421	NM_014916.4(LMTK2):c.499G>C (p.Val167Leu)	LMTK2 (V167L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3119420	NM_014916.4(LMTK2):c.4229C>T (p.Thr1410Ile)	LMTK2, LOC129998846 (T1410I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3119419	NM_014916.4(LMTK2):c.4187G>T (p.Gly1396Val)	LMTK2, LOC129998846 (G1396V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3119418	NM_014916.4(LMTK2):c.4087A>G (p.Thr1363Ala)	LMTK2 (T1363A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3119417	NM_014916.4(LMTK2):c.3992G>A (p.Arg1331Gln)	LMTK2 (R1331Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3119416	NM_014916.4(LMTK2):c.3898G>A (p.Ala1300Thr)	LMTK2 (A1300T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3119415	NM_014916.4(LMTK2):c.3841G>A (p.Gly1281Arg)	LMTK2 (G1281R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3119414	NM_014916.4(LMTK2):c.3777G>A (p.Pro1259=)	LMTK2	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 3119413	NM_014916.4(LMTK2):c.3595A>T (p.Ser1199Cys)	LMTK2 (S1199C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3119412	NM_014916.4(LMTK2):c.3506A>G (p.His1169Arg)	LMTK2 (H1169R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3119411	NM_014916.4(LMTK2):c.3206C>T (p.Pro1069Leu)	LMTK2 (P1069L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3119410	NM_014916.4(LMTK2):c.3013G>A (p.Val1005Ile)	LMTK2 (V1005I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3119409	NM_014916.4(LMTK2):c.2731A>G (p.Arg911Gly)	LMTK2 (R911G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3119408	NM_014916.4(LMTK2):c.2657C>T (p.Ser886Phe)	LMTK2 (S886F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3119407	NM_014916.4(LMTK2):c.2545G>T (p.Val849Phe)	LMTK2 (V849F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3119406	NM_014916.4(LMTK2):c.2190C>G (p.Asn730Lys)	LMTK2 (N730K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3119405	NM_014916.4(LMTK2):c.1939A>G (p.Ser647Gly)	LMTK2 (S647G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3119404	NM_014916.4(LMTK2):c.1705C>T (p.Pro569Ser)	LMTK2 (P569S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3119403	NM_014916.4(LMTK2):c.1469G>T (p.Ser490Ile)	LMTK2 (S490I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3119402	NM_014916.4(LMTK2):c.1450G>A (p.Asp484Asn)	LMTK2 (D484N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2623240	NM_014916.4(LMTK2):c.2701T>C (p.Ser901Pro)	LMTK2 (S901P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2621981	NM_014916.4(LMTK2):c.1258G>A (p.Val420Ile)	LMTK2 (V420I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2593383	NM_014916.4(LMTK2):c.4409G>A (p.Arg1470Gln)	LMTK2 (R1470Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2591688	NM_014916.4(LMTK2):c.1987G>A (p.Asp663Asn)	LMTK2 (D663N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2555254	NM_014916.4(LMTK2):c.3464C>T (p.Ala1155Val)	LMTK2 (A1155V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2532670	NM_014916.4(LMTK2):c.1744A>T (p.Thr582Ser)	LMTK2 (T582S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2528906	NM_014916.4(LMTK2):c.3200T>C (p.Leu1067Pro)	LMTK2 (L1067P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2527291	NM_014916.4(LMTK2):c.3718A>C (p.Asn1240His)	LMTK2 (N1240H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2523859	NM_014916.4(LMTK2):c.4373C>T (p.Thr1458Met)	LMTK2 (T1458M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2513603	NM_014916.4(LMTK2):c.4168G>A (p.Gly1390Ser)	LMTK2, LOC129998846 (G1390S)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2510519	NM_014916.4(LMTK2):c.1975G>A (p.Gly659Arg)	LMTK2 (G659R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2490389	NM_014916.4(LMTK2):c.1921A>G (p.Lys641Glu)	LMTK2 (K641E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2488354	NM_014916.4(LMTK2):c.1034A>G (p.Asn345Ser)	LMTK2 (N345S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2480717	NM_014916.4(LMTK2):c.1035T>G (p.Asn345Lys)	LMTK2 (N345K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2480300	NM_014916.4(LMTK2):c.4114C>G (p.Pro1372Ala)	LMTK2 (P1372A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2456048	NM_014916.4(LMTK2):c.2047G>A (p.Gly683Ser)	LMTK2 (G683S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2407437	NM_014916.4(LMTK2):c.701G>C (p.Arg234Pro)	LMTK2 (R234P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2406716	NM_014916.4(LMTK2):c.3238G>A (p.Asp1080Asn)	LMTK2 (D1080N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2401606	NM_014916.4(LMTK2):c.2826A>C (p.Lys942Asn)	LMTK2 (K942N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2396151	NM_014916.4(LMTK2):c.3646G>A (p.Glu1216Lys)	LMTK2 (E1216K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2387909	NM_014916.4(LMTK2):c.499G>A (p.Val167Met)	LMTK2 (V167M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2384499	NM_014916.4(LMTK2):c.3725C>T (p.Ala1242Val)	LMTK2 (A1242V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2376525	NM_014916.4(LMTK2):c.2780A>G (p.Asn927Ser)	LMTK2 (N927S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2365765	NM_014916.4(LMTK2):c.3176C>T (p.Thr1059Met)	LMTK2 (T1059M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2365463	NM_014916.4(LMTK2):c.4192C>T (p.Pro1398Ser)	LMTK2, LOC129998846 (P1398S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2360525	NM_014916.4(LMTK2):c.1196C>T (p.Ala399Val)	LMTK2 (A399V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2359698	NM_014916.4(LMTK2):c.379G>A (p.Gly127Arg)	LMTK2 (G127R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2358210	NM_014916.4(LMTK2):c.2491C>G (p.Pro831Ala)	LMTK2 (P831A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2353818	NM_014916.4(LMTK2):c.3683C>T (p.Thr1228Met)	LMTK2 (T1228M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2352369	NM_014916.4(LMTK2):c.2692G>A (p.Glu898Lys)	LMTK2 (E898K)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2352086	NM_014916.4(LMTK2):c.4388C>T (p.Pro1463Leu)	LMTK2 (P1463L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2350270	NM_014916.4(LMTK2):c.1558G>A (p.Gly520Arg)	LMTK2 (G520R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2332788	NM_014916.4(LMTK2):c.4153G>A (p.Gly1385Ser)	LMTK2, LOC129998846 (G1385S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2325170	NM_014916.4(LMTK2):c.2147T>C (p.Val716Ala)	LMTK2 (V716A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2322798	NM_014916.4(LMTK2):c.2095C>T (p.Leu699Phe)	LMTK2 (L699F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2315469	NM_014916.4(LMTK2):c.697A>T (p.Met233Leu)	LMTK2 (M233L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2305106	NM_014916.4(LMTK2):c.2374G>A (p.Asp792Asn)	LMTK2 (D792N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2281886	NM_014916.4(LMTK2):c.3637G>A (p.Asp1213Asn)	LMTK2 (D1213N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2281881	NM_014916.4(LMTK2):c.2391G>A (p.Met797Ile)	LMTK2 (M797I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2279762	NM_014916.4(LMTK2):c.1957G>A (p.Asp653Asn)	LMTK2 (D653N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2272077	NM_014916.4(LMTK2):c.3227C>T (p.Ser1076Leu)	LMTK2 (S1076L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2263586	NM_014916.4(LMTK2):c.4309C>T (p.Leu1437Phe)	LMTK2 (L1437F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2263306	NM_014916.4(LMTK2):c.4039G>A (p.Glu1347Lys)	LMTK2 (E1347K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2257856	NM_014916.4(LMTK2):c.988A>G (p.Ser330Gly)	LMTK2 (S330G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2245127	NM_014916.4(LMTK2):c.3733A>G (p.Lys1245Glu)	LMTK2 (K1245E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2239357	NM_014916.4(LMTK2):c.484G>A (p.Val162Ile)	LMTK2 (V162I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2237134	NM_014916.4(LMTK2):c.1885G>A (p.Glu629Lys)	LMTK2 (E629K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2234510	NM_014916.4(LMTK2):c.4421C>G (p.Ser1474Cys)	LMTK2 (S1474C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2226153	NM_014916.4(LMTK2):c.62C>T (p.Ala21Val)	LMTK2 (A21V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2226152	NM_014916.4(LMTK2):c.365A>G (p.Gln122Arg)	LMTK2 (Q122R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2222200	NM_014916.4(LMTK2):c.4013C>T (p.Ala1338Val)	LMTK2 (A1338V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2221316	NM_014916.4(LMTK2):c.1972A>G (p.Asn658Asp)	LMTK2 (N658D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2217930	NM_014916.4(LMTK2):c.2282C>T (p.Thr761Met)	LMTK2 (T761M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2210257	NM_014916.4(LMTK2):c.833A>G (p.Asn278Ser)	LMTK2 (N278S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1809338	GRCh37/hg19 7q21.3-22.1(chr7:97786282-98313434)x3	BAIAP2L1, BHLHA15 +4 more	Copy number gain	not provided	GUncertain significance
Select item 1808653	GRCh37/hg19 7q21.2-22.1(chr7:92721627-98311537)x1	ASB4, ASNS +34 more	Copy number loss	not provided	GPathogenic
Select item 1708459	GRCh37/hg19 7p22.3-q36.3(chr7:56604613-96692931)x1	AASS, ABCA13 +896 more	Copy number loss	See cases	GUncertain significance
Select item 1703560	Single allele	CACNA2D1, CADPS2 +896 more	Complex	Ring chromosome 7	GPathogenic
Select item 1047880	GRCh37/hg19 7q21.12-22.1(chr7:87477185-100333327)	ATP5MF-PTCD1, AZGP1 +127 more	Copy number gain	Isolated Pierre-Robin syndrome +1 more	GPathogenic
Select item 790047	NM_014916.4(LMTK2):c.3096C>T (p.Tyr1032=)	LMTK2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 781041	NM_014916.4(LMTK2):c.4149G>C (p.Ala1383=)	LMTK2, LOC129998846	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 781040	NM_014916.4(LMTK2):c.2729G>T (p.Ser910Ile)	LMTK2 (S910I)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 723420	NM_014916.4(LMTK2):c.1362G>A (p.Arg454=)	LMTK2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 716881	NM_014916.4(LMTK2):c.3312G>A (p.Ala1104=)	LMTK2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 712663	NM_014916.4(LMTK2):c.3024G>A (p.Ala1008=)	LMTK2	Single nucleotide variant (synonymous variant)	not provided	GBenign

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