VAV3[gene] - ClinVar

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Items: 71

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146007	GRCh38/hg38 1p21.3-13.3(chr1:97272349-108893138)x1	AGL, AKNAD1 +194 more	Copy number loss	See cases	GPathogenic
Select item 60005	GRCh38/hg38 1p21.3-13.3(chr1:97410602-110670510)x1	AGL, AHCYL1 +332 more	Copy number loss	See cases	GPathogenic
Select item 60007	GRCh38/hg38 1p21.2-13.2(chr1:101618097-111703028)x1	ELAPOR1, EPS8L3 +276 more	Copy number loss	See cases	GPathogenic
Select item 545138	NC_000001.11:g.(?_103175204)_(111410059_?)del	AHCYL1, AKNAD1 +242 more	Deletion	Autism	GLikely pathogenic
Select item 154886	GRCh38/hg38 1p21.1-12(chr1:104325484-119977655)x3	LOC129931064, LOC129931065 +563 more	Copy number gain	See cases	GPathogenic
Select item 154693	GRCh38/hg38 1p21.1-13.2(chr1:105468292-112190626)x1	ADORA3, AHCYL1 +274 more	Copy number loss	See cases	GPathogenic
Select item 60009	GRCh38/hg38 1p21.1-13.3(chr1:106074587-110144290)x1	AHCYL1, AKNAD1 +148 more	Copy number loss	See cases	GPathogenic
Select item 144592	GRCh38/hg38 1p13.3(chr1:107395369-108383738)x3	LOC112577470, LOC120893149 +12 more	Copy number gain	See cases	GUncertain significance
Select item 144346	GRCh38/hg38 1p13.3(chr1:107456821-108010045)x3	LOC120893149, LOC129931071 +6 more	Copy number gain	See cases	GUncertain significance
Select item 717806	NM_006113.5(VAV3):c.2502+8G>A	VAV3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 745356	NM_006113.5(VAV3):c.2456C>T (p.Thr819Ile)	VAV3 (T819I +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2539804	NM_006113.5(VAV3):c.2416G>C (p.Glu806Gln)	VAV3 (E246Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2236925	NM_006113.5(VAV3):c.2383G>A (p.Ala795Thr)	VAV3 (A795T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 744176	NM_006113.5(VAV3):c.2379C>T (p.Ala793=)	VAV3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2260839	NM_006113.5(VAV3):c.2327G>A (p.Arg776Lys)	VAV3 (R776K +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2477094	NM_006113.5(VAV3):c.2291T>A (p.Phe764Tyr)	VAV3 (F204Y +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2318593	NM_006113.5(VAV3):c.2162T>C (p.Ile721Thr)	VAV3 (I161T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 735424	NM_006113.5(VAV3):c.2132+8G>T	VAV3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2508978	NM_006113.5(VAV3):c.2062A>C (p.Asn688His)	VAV3 (N128H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2330773	NM_006113.5(VAV3):c.2041C>A (p.Gln681Lys)	VAV3 (Q681K +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 773149	NM_006113.5(VAV3):c.2011C>A (p.Pro671Thr)	VAV3 (P111T +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2380544	NM_006113.5(VAV3):c.1841G>A (p.Gly614Glu)	VAV3 (G54E +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2368347	NM_006113.5(VAV3):c.1810T>C (p.Ser604Pro)	VAV3 (S604P +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2337308	NM_006113.5(VAV3):c.1750C>G (p.Arg584Gly)	VAV3 (R24G +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 787207	NM_006113.5(VAV3):c.1515A>G (p.Arg505=)	VAV3	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2591015	NM_006113.5(VAV3):c.1424A>G (p.Gln475Arg)	VAV3 (Q475R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2233387	NM_006113.5(VAV3):c.1400A>G (p.Tyr467Cys)	VAV3 (Y467C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 750381	NM_006113.5(VAV3):c.1374C>T (p.Thr458=)	VAV3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2411967	NM_006113.5(VAV3):c.1291G>A (p.Val431Ile)	VAV3 (V431I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2266705	NM_006113.5(VAV3):c.1282G>A (p.Ala428Thr)	VAV3 (A428T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2459793	NM_006113.5(VAV3):c.1265T>A (p.Ile422Asn)	VAV3 (I422N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2470098	NM_006113.5(VAV3):c.1262A>G (p.His421Arg)	VAV3 (H421R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2358975	NM_006113.5(VAV3):c.1223G>A (p.Arg408Gln)	VAV3 (R408Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 750448	NM_006113.5(VAV3):c.1188G>A (p.Leu396=)	VAV3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 728989	NM_006113.5(VAV3):c.1136G>A (p.Arg379His)	VAV3 (R379H)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2557988	NM_006113.5(VAV3):c.1135C>G (p.Arg379Gly)	VAV3 (R379G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 770853	NM_006113.5(VAV3):c.1044G>A (p.Pro348=)	VAV3	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 2291363	NM_006113.5(VAV3):c.853G>T (p.Val285Leu)	VAV3 (V285L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 771311	NM_006113.5(VAV3):c.834C>T (p.Tyr278=)	VAV3	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2222853	NM_006113.5(VAV3):c.814A>G (p.Lys272Glu)	VAV3 (K272E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2601266	NM_006113.5(VAV3):c.728A>G (p.Lys243Arg)	VAV3 (K243R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 721213	NM_006113.5(VAV3):c.718-10C>T	VAV3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2339920	NM_006113.5(VAV3):c.623C>T (p.Thr208Ile)	VAV3 (T208I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2267313	NM_006113.5(VAV3):c.622A>G (p.Thr208Ala)	VAV3 (T208A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 787208	NM_006113.5(VAV3):c.415G>A (p.Asp139Asn)	VAV3 (D139N)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 777926	NM_006113.5(VAV3):c.408T>C (p.Asn136=)	VAV3	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2370857	NM_006113.5(VAV3):c.307C>G (p.Arg103Gly)	VAV3 (R103G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 713322	NM_006113.5(VAV3):c.295T>C (p.Leu99=)	VAV3	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 731402	NM_006113.5(VAV3):c.210C>T (p.Leu70=)	VAV3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2327157	NM_006113.5(VAV3):c.165C>G (p.Ile55Met)	VAV3, VAV3-AS1 (I55M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2621448	NM_006113.5(VAV3):c.163A>G (p.Ile55Val)	VAV3, VAV3-AS1 (I55V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2378980	NM_006113.5(VAV3):c.154G>A (p.Ala52Thr)	VAV3-AS1, VAV3 (A52T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2536598	NM_006113.5(VAV3):c.117T>A (p.Asp39Glu)	VAV3, VAV3-AS1 (D39E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 709763	NM_006113.5(VAV3):c.73T>C (p.Trp25Arg)	VAV3-AS1, VAV3 (W25R)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2212857	NM_006113.5(VAV3):c.71C>T (p.Thr24Ile)	VAV3, VAV3-AS1 (T24I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 741943	NM_006113.5(VAV3):c.9G>C (p.Pro3=)	VAV3, VAV3-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 723111	NM_006113.5(VAV3):c.9G>A (p.Pro3=)	VAV3, VAV3-AS1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1808911	GRCh37/hg19 1p13.3(chr1:108084038-108946133)x3	NBPF4, SLC25A24 +1 more	Copy number gain	not provided	GUncertain significance
Select item 1808144	GRCh37/hg19 1p13.3(chr1:108064478-108392992)x3	VAV3	Copy number gain	not provided	GUncertain significance
Select item 1527171	GRCh37/hg19 1p21.3-13.2(chr1:95046805-114714931)	ADORA3, AGL +124 more	Copy number loss	not specified	GPathogenic
Select item 1340040	GRCh37/hg19 1p13.3(chr1:108346477-110177123)x1	AKNAD1, AMIGO1 +30 more	Copy number loss	not provided	GUncertain significance
Select item 1047871	GRCh37/hg19 1p21.2-12(chr1:102021465-119737478)	ATP1A1, RAP1A +131 more	Copy number loss	Seizure +1 more	GPathogenic
Select item 685281	GRCh37/hg19 1p13.3(chr1:108231422-108474521)x1	VAV3	Copy number loss	not provided	GUncertain significance
Select item 635280	Single allele	KCNC4, LAMTOR5 +50 more	Deletion	1p13.3 deletion syndrome	GLikely pathogenic
Select item 565136	GRCh37/hg19 1p13.3(chr1:108317254-108817167)x3	VAV3, SLC25A24 +1 more	Copy number gain	not provided	GUncertain significance
Select item 565135	GRCh37/hg19 1p13.3(chr1:107785595-108243838)x3	VAV3, NTNG1	Copy number gain	not provided	GUncertain significance
Select item 443336	GRCh37/hg19 1p22.1-11.2(chr1:93837992-121343783)x3	ABCA4, ABCD3 +177 more	Copy number gain	See cases	GPathogenic
Select item 442387	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)	PADI1, PADI2 +2014 more	Copy number gain	See cases	GPathogenic
Select item 442386	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3	NID1, NIPAL3 +2014 more	Copy number gain	See cases	GPathogenic
Select item 242844	GRCh37/hg19 1p13.3(chr1:107538505-108235719)x3	VAV3, PRMT6 +1 more	Copy number gain	See cases	GUncertain significance
Select item 221414	GRCh37/hg19 1p13.3(chr1:108115974-108313305)x3	VAV3	Copy number gain	Breast ductal adenocarcinoma	GUncertain significance

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Items: 71