ClinVar for Gene (Select 558) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3345016	NM_021913.5(AXL):c.1070G>A (p.Arg357Gln)	AXL (R357Q +1 more)	Single nucleotide variant (missense variant)	AXL-related disorder	GUncertain significance
Select item 3258365	NM_021913.5(AXL):c.686G>A (p.Arg229His)	AXL (R229H)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GLikely benign
Select item 3258356	NM_021913.5(AXL):c.2523C>A (p.Asp841Glu)	AXL (D841E +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3258347	NM_021913.5(AXL):c.79C>T (p.Pro27Ser)	AXL (P27S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3258336	NM_021913.5(AXL):c.436G>A (p.Glu146Lys)	AXL (E146K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3132496	NM_021913.5(AXL):c.874C>G (p.His292Asp)	AXL (H24D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3132493	NM_021913.5(AXL):c.806T>G (p.Met269Arg)	AXL (M269R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3132492	NM_021913.5(AXL):c.2671G>C (p.Glu891Gln)	AXL (E882Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3132491	NM_021913.5(AXL):c.2471T>C (p.Met824Thr)	AXL (M815T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3132490	NM_021913.5(AXL):c.2328T>A (p.Asp776Glu)	AXL (D776E +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3132489	NM_021913.5(AXL):c.2270A>G (p.Glu757Gly)	AXL (E748G +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3132488	NM_021913.5(AXL):c.2056G>A (p.Val686Met)	AXL (V677M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3132487	NM_021913.5(AXL):c.1238G>A (p.Gly413Glu)	AXL (G145E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3061158	NM_021913.5(AXL):c.571_572delinsCC (p.Ser191Pro)	AXL (S191P)	Indel (missense variant)	AXL-related disorder	GUncertain significance
Select item 3050773	NM_021913.5(AXL):c.792G>A (p.Leu264=)	AXL	Single nucleotide variant (5 prime UTR variant +1 more)	AXL-related disorder	GLikely benign
Select item 3049243	NM_021913.5(AXL):c.36G>A (p.Pro12=)	AXL	Single nucleotide variant (synonymous variant)	AXL-related disorder	GLikely benign
Select item 3047175	NM_021913.5(AXL):c.1092G>A (p.Leu364=)	AXL	Single nucleotide variant (synonymous variant)	AXL-related disorder	GLikely benign
Select item 3046374	NM_021913.5(AXL):c.1189G>A (p.Gly397Arg)	AXL (G129R +1 more)	Single nucleotide variant (missense variant)	AXL-related disorder	GLikely benign
Select item 3043105	NM_021913.5(AXL):c.453C>T (p.Ala151=)	AXL	Single nucleotide variant (synonymous variant)	AXL-related disorder	GLikely benign
Select item 3040378	NM_021913.5(AXL):c.410-7C>T	AXL	Single nucleotide variant (intron variant)	AXL-related disorder	GLikely benign
Select item 3038712	NM_021913.5(AXL):c.1968C>T (p.Ile656=)	AXL	Single nucleotide variant (synonymous variant)	AXL-related disorder	GLikely benign
Select item 3034751	NM_021913.5(AXL):c.1803C>T (p.Ile601=)	AXL	Single nucleotide variant (synonymous variant)	AXL-related disorder	GLikely benign
Select item 3020726	NM_021913.5(AXL):c.410-16C>T	AXL	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3020291	NM_021913.5(AXL):c.1712-14C>T	AXL	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3020278	NM_021913.5(AXL):c.1446-5C>A	AXL	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3012123	NM_021913.5(AXL):c.1285+19C>T	AXL	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2990960	NM_021913.5(AXL):c.1633+19T>C	AXL	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2986012	NM_021913.5(AXL):c.1634-12G>C	AXL	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2979368	NM_021913.5(AXL):c.2452G>A (p.Glu818Lys)	AXL (E550K +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2960563	NM_021913.5(AXL):c.1537+19C>T	AXL	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2960046	NM_021913.5(AXL):c.754A>G (p.Ile252Val)	AXL (I252V)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 2957880	NM_021913.5(AXL):c.1633+12G>A	AXL	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2956766	NM_021913.5(AXL):c.587-14A>G	AXL	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2918464	NM_021913.5(AXL):c.1937C>T (p.Thr646Ile)	AXL (T378I +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2918463	NM_021913.5(AXL):c.845C>T (p.Pro282Leu)	AXL (P282L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2903522	NM_021913.5(AXL):c.2036+30dup	AXL	Duplication (intron variant)	not provided	GBenign
Select item 2898929	NM_021913.5(AXL):c.2351G>A (p.Arg784Gln)	AXL (R775Q +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2894570	NM_021913.5(AXL):c.90G>A (p.Thr30=)	AXL	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2884967	NM_021913.5(AXL):c.883C>T (p.Arg295Trp)	AXL (R295W +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2877618	NM_021913.5(AXL):c.2333+16T>C	AXL	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2865775	NM_021913.5(AXL):c.308+14T>G	AXL	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2841867	NM_021913.5(AXL):c.357G>A (p.Val119=)	AXL	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 2835697	NM_021913.5(AXL):c.858A>G (p.Gln286=)	AXL	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2818073	NM_021913.5(AXL):c.523_524insT (p.Gln175fs)	AXL (Q175fs)	Insertion (frameshift variant)	not provided	GUncertain significance
Select item 2808004	NM_021913.5(AXL):c.2T>G (p.Met1Arg)	AXL (M1R)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2792960	NM_021913.5(AXL):c.1840C>T (p.Pro614Ser)	AXL (P614S +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2788248	NM_021913.5(AXL):c.1537+10C>T	AXL	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2744324	NM_021913.5(AXL):c.2350C>T (p.Arg784Trp)	AXL (R516W +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2736896	NM_021913.5(AXL):c.587-6C>T	AXL	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2728204	NM_021913.5(AXL):c.493C>G (p.Pro165Ala)	AXL (P165A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2723262	NM_021913.5(AXL):c.2498C>G (p.Pro833Arg)	AXL (P833R +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2720674	NM_021913.5(AXL):c.5C>T (p.Ala2Val)	AXL (A2V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2713488	NM_021913.5(AXL):c.717G>A (p.Thr239=)	AXL	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2713304	NM_021913.5(AXL):c.2073C>T (p.Phe691=)	AXL	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2701901	NM_021913.5(AXL):c.1613T>C (p.Leu538Pro)	AXL (L529P +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2636977	NM_021913.5(AXL):c.2209del (p.Gly736_Val737insTer)	AXL	Deletion (nonsense)	AXL-related disorder	GUncertain significance
Select item 2629662	NM_021913.5(AXL):c.1424G>A (p.Arg475Gln)	AXL (R207Q +2 more)	Single nucleotide variant (missense variant)	AXL-related disorder	GUncertain significance
Select item 2573606	NM_021913.5(AXL):c.995-6C>T	AXL	Single nucleotide variant (intron variant)	not specified	GUncertain significance
Select item 2568042	NM_021913.5(AXL):c.1198T>C (p.Ser400Pro)	AXL (S400P +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2555119	NM_021913.5(AXL):c.749G>A (p.Ser250Asn)	AXL (S250N)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2552880	NM_021913.5(AXL):c.80C>T (p.Pro27Leu)	AXL (P27L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2552597	NM_021913.5(AXL):c.992G>A (p.Gly331Glu)	AXL (G331E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2529472	NM_021913.5(AXL):c.379G>C (p.Val127Leu)	AXL (V127L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2483416	NM_021913.5(AXL):c.461C>A (p.Thr154Asn)	AXL (T154N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2474520	NM_021913.5(AXL):c.1096G>C (p.Gly366Arg)	AXL (G366R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2426687	NC_000019.9:g.(?_41725298)_(41737223_?)del	AXL	Deletion	not provided	GUncertain significance
Select item 2423350	NC_000019.9:g.(?_39904727)_(42931301_?)dup	ACTMAP, AKT2 +84 more	Duplication	TWIST1-related craniosynostosis +3 more	GUncertain significance
Select item 2414955	NM_021913.5(AXL):c.1712-7C>T	AXL	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2393996	NM_021913.5(AXL):c.377T>C (p.Phe126Ser)	AXL (F126S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2387718	NM_021913.5(AXL):c.11G>A (p.Arg4Gln)	AXL (R4Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2378739	NM_021913.5(AXL):c.1580G>A (p.Arg527Gln)	AXL (R259Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2364597	NM_021913.5(AXL):c.1597C>T (p.Arg533Trp)	AXL (R524W +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2351153	NM_021913.5(AXL):c.905A>T (p.His302Leu)	AXL (H34L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2343284	NM_021913.5(AXL):c.1069C>T (p.Arg357Trp)	AXL (R89W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2341707	NM_021913.5(AXL):c.160C>A (p.Leu54Ile)	AXL (L54I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2332697	NM_021913.5(AXL):c.854C>T (p.Ser285Leu)	AXL (S17L +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2299583	NM_021913.5(AXL):c.1451T>C (p.Val484Ala)	AXL (V475A +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2297050	NM_021913.5(AXL):c.112G>A (p.Val38Met)	AXL (V38M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2291219	NM_021913.5(AXL):c.650G>A (p.Arg217His)	AXL (R217H)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +2 more	GUncertain significance
Select item 2289972	NM_021913.5(AXL):c.130A>G (p.Ile44Val)	AXL (I44V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2255554	NM_021913.5(AXL):c.143G>C (p.Arg48Pro)	AXL (R48P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2254053	NM_021913.5(AXL):c.142C>T (p.Arg48Trp)	AXL (R48W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2248227	NM_021913.5(AXL):c.731C>G (p.Ala244Gly)	AXL (A244G)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2244511	NM_021913.5(AXL):c.1126A>C (p.Thr376Pro)	AXL (T376P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2225678	NM_021913.5(AXL):c.2096A>G (p.Asn699Ser)	AXL (N431S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2205997	NM_021913.5(AXL):c.2318A>G (p.Asp773Gly)	AXL (D764G +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2200735	NM_021913.5(AXL):c.818C>T (p.Ala273Val)	AXL (A273V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2190293	NM_021913.5(AXL):c.1804G>A (p.Gly602Ser)	AXL (G334S +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2185819	NM_021913.5(AXL):c.766A>G (p.Thr256Ala)	AXL (T256A)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 2179451	NM_021913.5(AXL):c.1647T>C (p.Ala549=)	AXL	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2154785	NM_021913.5(AXL):c.865G>A (p.Val289Met)	AXL (V21M +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2141702	NM_021913.5(AXL):c.1446-5C>G	AXL	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2105769	NM_021913.5(AXL):c.1537+5G>A	AXL	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2095197	NM_021913.5(AXL):c.410-11C>T	AXL	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2089625	NM_021913.5(AXL):c.403C>T (p.Leu135=)	AXL	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2066103	NM_021913.5(AXL):c.445A>G (p.Thr149Ala)	AXL (T149A)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2063082	NM_021913.5(AXL):c.986C>T (p.Pro329Leu)	AXL (P61L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2056236	NM_021913.5(AXL):c.2399G>A (p.Arg800Gln)	AXL (R532Q +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2049950	NM_021913.5(AXL):c.1804+7G>T	AXL	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2045541	NM_021913.5(AXL):c.1082A>C (p.Gln361Pro)	AXL (Q361P +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely benign

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