905[HGNC] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 144406	GRCh38/hg38 19p13.2-q13.31(chr19:11227942-44626354)x3	ABHD8, ACP5 +2135 more	Copy number gain	See cases	GPathogenic
Select item 57043	GRCh38/hg38 19q13.12-13.2(chr19:37319377-42738688)x3	ACP7, ACTMAP +514 more	Copy number gain	See cases	GPathogenic
Select item 1181285	NC_000019.10:g.41218915G>A	AXL	Single nucleotide variant	not provided	GBenign
Select item 1271413	NC_000019.10:g.41218980G>A	AXL	Single nucleotide variant	not provided	GBenign
Select item 1248751	NM_021913.5(AXL):c.-27A>G	AXL	Single nucleotide variant (5 prime UTR variant)	not provided	GBenign
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 2720674	NM_021913.5(AXL):c.5C>T (p.Ala2Val)	AXL (A2V)	Single nucleotide variant (missense variant)	not provided	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 3049243	NM_021913.5(AXL):c.36G>A (p.Pro12=)	AXL	Single nucleotide variant (synonymous variant)	AXL-related disorder	GLikely benign
Select item 720601	NM_021913.5(AXL):c.53C>T (p.Ala18Val)	AXL (A18V)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2017849	NM_021913.5(AXL):c.54G>C (p.Ala18=)	AXL	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 2552880	NM_021913.5(AXL):c.80C>T (p.Pro27Leu)	AXL (P27L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1248203	NM_021913.5(AXL):c.85+28G>A	AXL	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1280233	NM_021913.5(AXL):c.86-87G>A	AXL	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1612037	NM_021913.5(AXL):c.86-13A>C	AXL	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 798014	NM_021913.5(AXL):c.86-4C>G	AXL	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2894570	NM_021913.5(AXL):c.90G>A (p.Thr30=)	AXL	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 2289972	NM_021913.5(AXL):c.130A>G (p.Ile44Val)	AXL (I44V)	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 2255554	NM_021913.5(AXL):c.143G>C (p.Arg48Pro)	AXL (R48P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1624363	NM_021913.5(AXL):c.148C>T (p.Leu50Phe)	AXL (L50F)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 748567	NM_021913.5(AXL):c.153G>A (p.Thr51=)	AXL	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 1930503	NM_021913.5(AXL):c.172C>G (p.Leu58Val)	AXL (L58V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1920747	NM_021913.5(AXL):c.178G>A (p.Val60Ile)	AXL (V60I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1441766	NM_021913.5(AXL):c.212G>A (p.Arg71Gln)	AXL (R71Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 732075	NM_021913.5(AXL):c.236C>T (p.Ala79Val)	AXL (A79V)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2865775	NM_021913.5(AXL):c.308+14T>G	AXL	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 752010	NM_021913.5(AXL):c.309-7C>T	AXL	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1415287	NM_021913.5(AXL):c.335C>T (p.Thr112Met)	AXL (T112M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2841867	NM_021913.5(AXL):c.357G>A (p.Val119=)	AXL	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
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 2529472	NM_021913.5(AXL):c.379G>C (p.Val127Leu)	AXL (V127L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2089625	NM_021913.5(AXL):c.403C>T (p.Leu135=)	AXL	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1273080	NM_021913.5(AXL):c.409+46C>T	AXL	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1225895	NM_021913.5(AXL):c.410-293C>A	AXL	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1261254	NM_021913.5(AXL):c.410-156T>C	AXL	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3020726	NM_021913.5(AXL):c.410-16C>T	AXL	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2095197	NM_021913.5(AXL):c.410-11C>T	AXL	Single nucleotide variant (intron variant)	not provided	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 734430	NM_021913.5(AXL):c.410-5G>A	AXL	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 769000	NM_021913.5(AXL):c.435C>T (p.Pro145=)	AXL	Single nucleotide variant (synonymous variant)	not provided	GBenign
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 2066103	NM_021913.5(AXL):c.445A>G (p.Thr149Ala)	AXL (T149A)	Single nucleotide variant (missense variant)	not provided	GBenign
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 2483416	NM_021913.5(AXL):c.461C>A (p.Thr154Asn)	AXL (T154N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 2818073	NM_021913.5(AXL):c.523_524insT (p.Gln175fs)	AXL (Q175fs)	Insertion (frameshift variant)	not provided	GUncertain significance
Select item 1599354	NM_021913.5(AXL):c.538C>T (p.Leu180=)	AXL	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 713542	NM_021913.5(AXL):c.541G>T (p.Ala181Ser)	AXL (A181S)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3061158	NM_021913.5(AXL):c.571_572delinsCC (p.Ser191Pro)	AXL (S191P)	Indel (missense variant)	AXL-related disorder	GUncertain significance
Select item 734024	NM_021913.5(AXL):c.580G>A (p.Val194Ile)	AXL (V194I)	Single nucleotide variant (missense 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 2736896	NM_021913.5(AXL):c.587-6C>T	AXL	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2291219	NM_021913.5(AXL):c.650G>A (p.Arg217His)	AXL (R217H)	Single nucleotide variant (5 prime UTR variant +1 more)	AXL-related disorder +2 more	GUncertain significance
Select item 1674528	NM_021913.5(AXL):c.667+16G>C	AXL	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1256702	NM_021913.5(AXL):c.667+65G>A	AXL	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1591324	NM_021913.5(AXL):c.668-12G>A	AXL	Single nucleotide variant (intron variant)	not provided	GBenign
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 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 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 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 789350	NM_021913.5(AXL):c.750C>T (p.Ser250=)	AXL	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign
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 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 1598744	NM_021913.5(AXL):c.783+17T>C	AXL	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1245530	NM_021913.5(AXL):c.783+126G>T	AXL	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1288205	NM_021913.5(AXL):c.783+141C>T	AXL	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1236496	NM_021913.5(AXL):c.783+207C>T	AXL	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1245024	NM_021913.5(AXL):c.783+211G>A	AXL	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 713486	NM_021913.5(AXL):c.784G>A (p.Ala262Thr)	AXL (A262T)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign
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 1641277	NM_021913.5(AXL):c.796= (p.Asp266=)	AXL	Variation (no sequence alteration)	not provided	GBenign
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 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 1442945	NM_021913.5(AXL):c.821G>A (p.Gly274Glu)	AXL (G274E +1 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 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 745779	NM_021913.5(AXL):c.855G>T (p.Ser285=)	AXL	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2835697	NM_021913.5(AXL):c.858A>G (p.Gln286=)	AXL	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 782647	NM_021913.5(AXL):c.864C>T (p.Ser288=)	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 1344764	NM_021913.5(AXL):c.874del (p.His292fs)	AXL (H24fs +1 more)	Deletion (frameshift variant)	Amenorrhea	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 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 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 736621	NM_021913.5(AXL):c.924C>T (p.Arg308=)	AXL	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2027975	NM_021913.5(AXL):c.941G>A (p.Ser314Asn)	AXL (S46N +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 731261	NM_021913.5(AXL):c.984G>A (p.Thr328=)	AXL	Single nucleotide variant (synonymous 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 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 1250954	NM_021913.5(AXL):c.994+42G>T	AXL	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1585710	NM_021913.5(AXL):c.995-20C>A	AXL	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2573606	NM_021913.5(AXL):c.995-6C>T	AXL	Single nucleotide variant (intron variant)	not specified	GUncertain significance
Select item 736335	NM_021913.5(AXL):c.1051G>C (p.Val351Leu)	AXL (V351L +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
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 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 1981010	NM_021913.5(AXL):c.1074G>A (p.Ala358=)	AXL	Single nucleotide variant (synonymous variant)	not provided	GLikely benign

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