ClinVar for Gene (Select 7410) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3331894	NM_001134398.2(VAV2):c.142C>T (p.His48Tyr)	VAV2 (H48Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3331893	NM_001134398.2(VAV2):c.2174A>G (p.Lys725Arg)	VAV2 (K715R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3331892	NM_001134398.2(VAV2):c.709A>G (p.Met237Val)	VAV2 (M232V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3331890	NM_001134398.2(VAV2):c.1741G>A (p.Asp581Asn)	VAV2 (D581N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3331889	NM_001134398.2(VAV2):c.2508G>A (p.Ser836=)	VAV2	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 3331888	NM_001134398.2(VAV2):c.1708C>A (p.Pro570Thr)	VAV2 (P560T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3331887	NM_001134398.2(VAV2):c.823G>A (p.Asp275Asn)	VAV2 (D275N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3331886	NM_001134398.2(VAV2):c.1905A>C (p.Gln635His)	VAV2 (Q635H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3245294	NC_000009.11:g.(?_131678355)_(140095163_?)dup	HMCN2, IER5L +147 more	Duplication	not provided	GUncertain significance
Select item 3238673	GRCh38/hg38 9q34.13-34.3(chr9:137552409-137879159)	LOC124375238, LOC124375239 +569 more	Copy number loss	Kleefstra syndrome 1	GPathogenic
Select item 3238671	GRCh38/hg38 9q34.13-34.3(chr9:137552082-137728529)	GBGT1, GLT6D1 +552 more	Copy number loss	Kleefstra syndrome 1	GPathogenic
Select item 3238668	GRCh38/hg38 9q34.13-34.3(chr9:137552409-138052113)	ABCA2, ABO +572 more	Copy number loss	Kleefstra syndrome 1	GPathogenic
Select item 3238667	GRCh38/hg38 9q34.13-34.3(chr9:137552409-138059181)	LOC130002921, LOC130002922 +572 more	Copy number loss	Kleefstra syndrome 1	GPathogenic
Select item 3238666	GRCh38/hg38 9q34.13-34.3(chr9:136926151-138059181)	LOC121366034, LOC121366035 +572 more	Copy number loss	Kleefstra syndrome 1	GPathogenic
Select item 3238664	GRCh38/hg38 9q34.13-34.3(chr9:137590213-137817525)	SARDH, SEC16A +568 more	Copy number loss	Kleefstra syndrome 1	GPathogenic
Select item 3238663	GRCh38/hg38 9q34.13-34.3(chr9:137590213-138052188)	ABCA2, ABO +572 more	Copy number loss	Kleefstra syndrome 1	GPathogenic
Select item 3188287	NM_001134398.2(VAV2):c.988G>C (p.Val330Leu)	VAV2 (V325L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3188286	NM_001134398.2(VAV2):c.981C>A (p.Asp327Glu)	VAV2 (D327E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3188285	NM_001134398.2(VAV2):c.59A>G (p.Asn20Ser)	VAV2 (N20S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3188284	NM_001134398.2(VAV2):c.428G>A (p.Arg143His)	VAV2 (R143H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3188283	NM_001134398.2(VAV2):c.365A>G (p.Gln122Arg)	VAV2 (Q122R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3188282	NM_001134398.2(VAV2):c.2587C>T (p.Arg863Trp)	VAV2 (R824W +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3188281	NM_001134398.2(VAV2):c.257T>A (p.Phe86Tyr)	VAV2 (F86Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3188280	NM_001134398.2(VAV2):c.1990C>T (p.Arg664Trp)	VAV2 (R654W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3188279	NM_001134398.2(VAV2):c.1895G>A (p.Arg632His)	VAV2 (R622H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3188277	NM_001134398.2(VAV2):c.135G>C (p.Gln45His)	VAV2 (Q45H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3188276	NM_001134398.2(VAV2):c.1133G>A (p.Arg378Gln)	VAV2 (R373Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3063071	GRCh37/hg19 9p24.3-q34.3(chr9:203861-141020389)x3	DMAC1, DMRT1 +769 more	Copy number gain	not specified	GPathogenic
Select item 2684589	GRCh37/hg19 9q34.2(chr9:136378366-136726628)x3	ADAMTSL2, DBH +4 more	Copy number gain	not provided	GUncertain significance
Select item 2659702	NM_001134398.2(VAV2):c.363G>A (p.Ala121=)	VAV2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2659701	NM_001134398.2(VAV2):c.450C>T (p.Asp150=)	VAV2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2659700	NM_001134398.2(VAV2):c.504G>A (p.Gly168=)	VAV2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2610694	NM_001134398.2(VAV2):c.574G>T (p.Gly192Cys)	VAV2 (G192C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2606687	NM_001134398.2(VAV2):c.419A>G (p.Asp140Gly)	VAV2 (D140G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2606276	NM_001134398.2(VAV2):c.388C>T (p.Pro130Ser)	VAV2 (P130S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2550249	NM_001134398.2(VAV2):c.754C>T (p.His252Tyr)	VAV2 (H252Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2541659	NM_001134398.2(VAV2):c.583G>A (p.Glu195Lys)	VAV2 (E195K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2541363	NM_001134398.2(VAV2):c.2104G>T (p.Ala702Ser)	VAV2 (A692S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2509105	NM_001134398.2(VAV2):c.2548G>A (p.Gly850Ser)	VAV2 (G840S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2482040	NM_001134398.2(VAV2):c.961G>C (p.Gly321Arg)	VAV2 (G316R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2468969	NM_001134398.2(VAV2):c.1177A>G (p.Ile393Val)	VAV2 (I393V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2463934	NM_001134398.2(VAV2):c.2318C>T (p.Ser773Leu)	VAV2 (S763L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2456775	NM_001134398.2(VAV2):c.1544A>G (p.Lys515Arg)	VAV2 (K505R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2426886	NC_000009.11:g.(?_136218768)_(141016451_?)dup	STKLD1, STPG3 +110 more	Duplication	Kleefstra syndrome 1	GUncertain significance
Select item 2426262	NC_000009.11:g.(?_131087402)_(141016451_?)dup	ABCA2, ABL1 +187 more	Duplication	Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome	GUncertain significance
Select item 2422970	NC_000009.11:g.(?_135139626)_(140034216_?)dup	REXO4, RNU6ATAC +100 more	Duplication	Tuberous sclerosis 1 +4 more	GUncertain significance
Select item 2403495	NM_001134398.2(VAV2):c.934G>A (p.Glu312Lys)	VAV2 (E307K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2388033	NM_001134398.2(VAV2):c.1744G>A (p.Ala582Thr)	VAV2 (A582T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2363034	NM_001134398.2(VAV2):c.712G>A (p.Ala238Thr)	VAV2 (A233T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2360799	NM_001134398.2(VAV2):c.1558A>G (p.Asn520Asp)	VAV2 (N510D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2358917	NM_001134398.2(VAV2):c.2513G>A (p.Arg838Gln)	VAV2 (R838Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2345292	NM_001134398.2(VAV2):c.362C>T (p.Ala121Val)	VAV2 (A121V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2340648	NM_001134398.2(VAV2):c.710T>C (p.Met237Thr)	VAV2 (M237T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2334439	NM_001134398.2(VAV2):c.287C>T (p.Pro96Leu)	VAV2 (P96L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2333211	NM_001134398.2(VAV2):c.793G>A (p.Gly265Arg)	VAV2 (G265R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2333060	NM_001134398.2(VAV2):c.2107G>A (p.Glu703Lys)	VAV2 (E703K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2332228	NM_001134398.2(VAV2):c.1991G>A (p.Arg664Gln)	VAV2 (R654Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2328526	NM_001134398.2(VAV2):c.1512G>A (p.Met504Ile)	VAV2 (M504I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2324709	NM_001134398.2(VAV2):c.374G>A (p.Gly125Glu)	VAV2 (G125E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2314939	NM_001134398.2(VAV2):c.1306G>A (p.Val436Ile)	VAV2 (V436I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2299656	NM_001134398.2(VAV2):c.1584G>A (p.Met528Ile)	VAV2 (M518I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2277385	NM_001134398.2(VAV2):c.1046A>T (p.His349Leu)	VAV2 (H344L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2270243	NM_001134398.2(VAV2):c.1344G>C (p.Glu448Asp)	VAV2 (E443D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2264652	NM_001134398.2(VAV2):c.2141A>G (p.Asn714Ser)	VAV2 (N704S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2240407	NM_001134398.2(VAV2):c.2006C>T (p.Thr669Ile)	VAV2 (T669I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2236449	NM_001134398.2(VAV2):c.178A>T (p.Ile60Phe)	VAV2 (I60F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2225823	NM_001134398.2(VAV2):c.308G>A (p.Arg103Gln)	VAV2 (R103Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2220273	NM_001134398.2(VAV2):c.1559A>G (p.Asn520Ser)	VAV2 (N510S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2215524	NM_001134398.2(VAV2):c.2419G>A (p.Ala807Thr)	VAV2 (A797T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2206035	NM_001134398.2(VAV2):c.1399G>C (p.Val467Leu)	VAV2 (V467L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1527491	GRCh37/hg19 9p24.3-q34.3(chr9:353349-141020389)	ANKRD18A, ANKRD18B +768 more	Copy number gain	not specified	GPathogenic
Select item 993847	NM_001134398.2(VAV2):c.1533-8C>G	VAV2	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 833105	NC_000009.11:g.(?_135771850)_(137038881_?)dup	ABO, ADAMTS13 +26 more	Duplication	Tuberous sclerosis 1	GUncertain significance
Select item 832997	NC_000009.11:g.(?_135771602)_(136769889_?)dup	ABO, ADAMTS13 +23 more	Duplication	Tuberous sclerosis 1	GUncertain significance
Select item 780838	NM_001134398.2(VAV2):c.735+6G>C	VAV2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 780826	NM_001134398.2(VAV2):c.2070C>T (p.His690=)	VAV2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 780049	NM_001134398.2(VAV2):c.1332C>T (p.Tyr444=)	VAV2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 768337	NM_001134398.2(VAV2):c.330C>T (p.Ser110=)	VAV2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 768336	NM_001134398.2(VAV2):c.1839G>C (p.Thr613=)	VAV2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 768335	NM_001134398.2(VAV2):c.2136-10_2136-9insGTGACCGCCGGGGCCGTGTGGCCCTCACGCA	VAV2	Insertion (intron variant)	not provided	GBenign
Select item 726416	NM_001134398.2(VAV2):c.1891-5G>C	VAV2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 725440	NM_001134398.2(VAV2):c.552+9T>C	VAV2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 715580	NM_001134398.2(VAV2):c.2613C>T (p.Tyr871=)	VAV2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 711533	NM_001134398.2(VAV2):c.1743C>T (p.Asp581=)	VAV2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 711027	NM_001134398.2(VAV2):c.2589+9C>A	VAV2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 708097	NM_001134398.2(VAV2):c.744C>A (p.Ile248=)	VAV2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 687100	GRCh37/hg19 9q21.11-34.3(chr9:71416475-141020389)x3	AMBP, ANAPC2 +552 more	Copy number gain	not provided	GPathogenic
Select item 685192	GRCh37/hg19 9p24.3-q34.3(chr9:203861-141020388)x3	MSMP, OR13D1 +769 more	Copy number gain	not provided	GPathogenic
Select item 652388	NC_000009.11:g.(?_134379574)_(138678377_?)dup	ABO, ADAMTS13 +55 more	Duplication	Ehlers-Danlos syndrome, classic type	GUncertain significance
Select item 563671	GRCh37/hg19 9q34.13-34.3(chr9:135105971-141020389)x3	ABCA2, ABO +130 more	Copy number gain	not provided	GPathogenic
Select item 523294	GRCh37/hg19 9q21.11-34.3(chr9:71069743-140999928)	ANGPTL2, ANKS6 +555 more	Copy number gain	Seizure +2 more	GLikely pathogenic
Select item 523169	GRCh37/hg19 9q34.13-34.3(chr9:135377559-141213431)x1	DPH7, OLFM1 +128 more	Copy number loss	mTOR Inhibitor response	Gdrug response
Select item 443986	GRCh37/hg19 9p24.3-q34.3(chr9:203862-141020389)	ODF2, OGN +769 more	Copy number gain	See cases	GPathogenic
Select item 395707	GRCh37/hg19 9p24.3-q34.3(chr9:62525-141006407)	ABCA1, ABCA2 +771 more	Copy number gain	See cases	GPathogenic
Select item 395356	GRCh37/hg19 9q33.3-34.3(chr9:128652785-141044751)x3	ABCA2, ABL1 +228 more	Copy number gain	See cases	GPathogenic
Select item 394948	GRCh37/hg19 9q33.2-34.3(chr9:124642754-141146461)x3	ABCA2, ABL1 +279 more	Copy number gain	See cases	GPathogenic
Select item 253402	GRCh37/hg19 9p24.3-q34.3(chr9:163131-141122114)x3	ABCA1, ABCA2 +771 more	Copy number gain	See cases	GPathogenic
Select item 226195	GRCh37/hg19 9q34.2(chr9:136850292-137153876)	RNU6ATAC, BRD3 +2 more	Copy number gain	Abnormal esophagus morphology	GLikely benign
Select item 160862	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3	LOC124210612, LOC124210613 +3786 more	Copy number gain	See cases	GPathogenic
Select item 155409	GRCh38/hg38 9p24.3-q34.3(chr9:203862-138125937)x3	ABCA1, ABCA2 +3786 more	Copy number gain	See cases	GPathogenic

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