VAV1[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 154560	GRCh38/hg38 19p13.3(chr19:259395-6795611)x3	ABCA7, ABHD17A +903 more	Copy number gain	See cases	GPathogenic
Select item 59082	GRCh38/hg38 19p13.3-13.2(chr19:1972245-9648879)x3	LOC130063246, LOC130063247 +810 more	Copy number gain	See cases	GPathogenic
Select item 150491	GRCh38/hg38 19p13.3-13.2(chr19:5905175-6916287)x3	ACER1, ACSBG2 +113 more	Copy number gain	See cases	GUncertain significance
Select item 1376846	NM_005428.4(VAV1):c.4G>C (p.Glu2Gln)	VAV1 (E2Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1353473	NM_005428.4(VAV1):c.21C>T (p.Cys7=)	VAV1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2133830	NM_005428.4(VAV1):c.26A>G (p.His9Arg)	VAV1 (H9R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2966732	NM_005428.4(VAV1):c.33C>T (p.Leu11=)	VAV1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1963686	NM_005428.4(VAV1):c.44G>A (p.Arg15Gln)	VAV1 (R15Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1632242	NM_005428.4(VAV1):c.45G>A (p.Arg15=)	VAV1	Single nucleotide variant (synonymous variant)	VAV1-related condition +1 more	GLikely benign
Select item 1614214	NM_005428.4(VAV1):c.54G>T (p.Pro18=)	VAV1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 403600	NM_005428.4(VAV1):c.54G>C (p.Pro18=)	VAV1	Single nucleotide variant (synonymous variant)	VAV1-related condition +2 more	GBenign
Select item 2699631	NM_005428.4(VAV1):c.67G>A (p.Val23Met)	VAV1 (V23M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3001348	NM_005428.4(VAV1):c.71C>T (p.Thr24Ile)	VAV1 (T24I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2967239	NM_005428.4(VAV1):c.81G>T (p.Gly27=)	VAV1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2175884	NM_005428.4(VAV1):c.114G>A (p.Arg38=)	VAV1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1590893	NM_005428.4(VAV1):c.129G>T (p.Leu43=)	VAV1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2880486	NM_005428.4(VAV1):c.136C>T (p.Leu46=)	VAV1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1509152	NM_005428.4(VAV1):c.142AAC[1] (p.Asn49del)	VAV1 (N49del)	Microsatellite (inframe_deletion)	not provided	GUncertain significance
Select item 1957652	NM_005428.4(VAV1):c.162C>T (p.Ala54=)	VAV1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1110516	NM_005428.4(VAV1):c.168C>T (p.Asn56=)	VAV1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1106741	NM_005428.4(VAV1):c.184C>T (p.Leu62=)	VAV1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1398496	NM_005428.4(VAV1):c.187C>T (p.Arg63Cys)	VAV1 (R63C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2090973	NM_005428.4(VAV1):c.188G>A (p.Arg63His)	VAV1 (R63H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2023560	NM_005428.4(VAV1):c.195G>A (p.Gln65=)	VAV1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1645634	NM_005428.4(VAV1):c.204+11C>T	VAV1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1578153	NM_005428.4(VAV1):c.204+12G>A	VAV1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1626519	NM_005428.4(VAV1):c.204+13C>T	VAV1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1565619	NM_005428.4(VAV1):c.204+14G>A	VAV1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2977009	NM_005428.4(VAV1):c.204+16G>A	VAV1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2649145	NM_005428.4(VAV1):c.204+11212C>G	VAV1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2868154	NM_005428.4(VAV1):c.205-16C>A	VAV1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2960608	NM_005428.4(VAV1):c.205-11T>A	VAV1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1639874	NM_005428.4(VAV1):c.213C>T (p.Cys71=)	VAV1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1969314	NM_005428.4(VAV1):c.231C>T (p.Thr77=)	VAV1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2892967	NM_005428.4(VAV1):c.258C>T (p.Phe86=)	VAV1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3010159	NM_005428.4(VAV1):c.264C>G (p.Leu88=)	VAV1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1953389	NM_005428.4(VAV1):c.268C>T (p.Arg90Trp)	VAV1 (R90W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1945397	NM_005428.4(VAV1):c.268C>A (p.Arg90=)	VAV1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1448119	NM_005428.4(VAV1):c.269G>A (p.Arg90Gln)	VAV1 (R90Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1605085	NM_005428.4(VAV1):c.273C>T (p.Ser91=)	VAV1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1602988	NM_005428.4(VAV1):c.282C>T (p.Phe94=)	VAV1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1658971	NM_005428.4(VAV1):c.291T>C (p.Phe97=)	VAV1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1565424	NM_005428.4(VAV1):c.300C>T (p.Phe100=)	VAV1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1928853	NM_005428.4(VAV1):c.321G>A (p.Lys107=)	VAV1	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 2881556	NM_005428.4(VAV1):c.321+13C>T	VAV1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1655133	NM_005428.4(VAV1):c.321+14T>C	VAV1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2091208	NM_005428.4(VAV1):c.321+16G>A	VAV1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 403601	NM_005428.4(VAV1):c.322-8C>T	VAV1	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 1674854	NM_005428.4(VAV1):c.322-7G>A	VAV1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1387313	NM_005428.4(VAV1):c.328T>C (p.Tyr110His)	VAV1 (Y110H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2757521	NM_005428.4(VAV1):c.353C>T (p.Thr118Ile)	VAV1 (T118I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1640649	NM_005428.4(VAV1):c.357G>A (p.Pro119=)	VAV1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 710977	NM_005428.4(VAV1):c.360C>T (p.Ile120=)	VAV1	Single nucleotide variant (synonymous variant)	VAV1-related condition +1 more	GLikely benign
Select item 1504248	NM_005428.4(VAV1):c.365A>G (p.Gln122Arg)	VAV1 (Q122R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1975536	NM_005428.4(VAV1):c.375G>T (p.Gly125=)	VAV1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2794269	NM_005428.4(VAV1):c.378C>T (p.Ile126=)	VAV1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1439391	NM_005428.4(VAV1):c.380+3G>A	VAV1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1927908	NM_005428.4(VAV1):c.380+17G>A	VAV1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2768016	NM_005428.4(VAV1):c.381-17C>T	VAV1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2076056	NM_005428.4(VAV1):c.381-8C>T	VAV1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 626044	NM_005428.4(VAV1):c.381-8C>A	VAV1	Single nucleotide variant (intron variant)	not provided	GConflicting classifications of pathogenicity
Select item 2754048	NM_005428.4(VAV1):c.381G>A (p.Met127Ile)	VAV1 (M127I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1947292	NM_005428.4(VAV1):c.384C>T (p.Pro128=)	VAV1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1966685	NM_005428.4(VAV1):c.393C>T (p.Thr131=)	VAV1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2844968	NM_005428.4(VAV1):c.415G>A (p.Glu139Lys)	VAV1 (E139K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2700171	NM_005428.4(VAV1):c.432C>T (p.Gly144=)	VAV1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2057442	NM_005428.4(VAV1):c.439G>A (p.Asp147Asn)	VAV1 (D147N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1584194	NM_005428.4(VAV1):c.447C>T (p.Ile149=)	VAV1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1533237	NM_005428.4(VAV1):c.449+10C>G	VAV1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1536507	NM_005428.4(VAV1):c.449+12G>A	VAV1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1559026	NM_005428.4(VAV1):c.449+13G>A	VAV1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 403602	NM_005428.4(VAV1):c.450-13T>C	VAV1	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
Select item 1375202	NM_005428.4(VAV1):c.450-6C>G	VAV1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2414324	NM_005428.4(VAV1):c.450C>T (p.Asp150=)	VAV1	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 2957003	NM_005428.4(VAV1):c.451G>A (p.Asp151Asn)	VAV1 (D151N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1906469	NM_005428.4(VAV1):c.456G>A (p.Thr152=)	VAV1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1174669	NM_005428.4(VAV1):c.461A>C (p.Glu154Ala)	VAV1 (E154A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 618481	NM_005428.4(VAV1):c.472G>A (p.Asp158Asn)	VAV1 (D158N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1005114	NM_005428.4(VAV1):c.473A>T (p.Asp158Val)	VAV1 (D158V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1663771	NM_005428.4(VAV1):c.486C>T (p.Cys162=)	VAV1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1905644	NM_005428.4(VAV1):c.503C>T (p.Ala168Val)	VAV1 (A168V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1927339	NM_005428.4(VAV1):c.504G>A (p.Ala168=)	VAV1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1168179	NM_005428.4(VAV1):c.510C>T (p.Gly170=)	VAV1	Single nucleotide variant (synonymous variant)	VAV1-related condition +1 more	GBenign/Likely benign
Select item 2083330	NM_005428.4(VAV1):c.512A>G (p.Asp171Gly)	VAV1 (D171G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2041601	NM_005428.4(VAV1):c.512A>C (p.Asp171Ala)	VAV1 (D171A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2975631	NM_005428.4(VAV1):c.516G>A (p.Glu172=)	VAV1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1442177	NM_005428.4(VAV1):c.517A>G (p.Ile173Val)	VAV1 (I173V)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1412527	NM_005428.4(VAV1):c.535C>A (p.Arg179Ser)	VAV1 (R179S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2959883	NM_005428.4(VAV1):c.540G>A (p.Ser180=)	VAV1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1478249	NM_005428.4(VAV1):c.542A>T (p.Glu181Val)	VAV1 (E181V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2979343	NM_005428.4(VAV1):c.556C>A (p.Pro186Thr)	VAV1 (P186T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2049247	NM_005428.4(VAV1):c.557C>T (p.Pro186Leu)	VAV1 (P186L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2778716	NM_005428.4(VAV1):c.558+4C>T	VAV1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1899943	NM_005428.4(VAV1):c.558+5G>A	VAV1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2111401	NM_005428.4(VAV1):c.558+6T>C	VAV1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1589163	NM_005428.4(VAV1):c.558+9C>T	VAV1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1582739	NM_005428.4(VAV1):c.558+10G>A	VAV1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2117140	NM_005428.4(VAV1):c.558+16G>A	VAV1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1933903	NM_005428.4(VAV1):c.559-24_559-20del	VAV1	Deletion (intron variant)	not provided	GLikely benign
Select item 2021850	NM_005428.4(VAV1):c.559-16C>G	VAV1	Single nucleotide variant (intron variant)	not provided	GLikely benign

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