VAX1[gene] - ClinVar

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Items: 73

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59707	GRCh38/hg38 10q24.31-26.3(chr10:100194215-132432797)x3	LOC126861081, LOC126861082 +1036 more	Copy number gain	See cases	GPathogenic
Select item 148679	GRCh38/hg38 10q24.31-26.3(chr10:100600492-133622588)x3	ABLIM1, ABRAXAS2 +1097 more	Copy number gain	See cases	GPathogenic
Select item 58782	GRCh38/hg38 10q25.1-26.11(chr10:107191100-118761489)x1	LOC130004776, LOC130004777 +308 more	Copy number loss	See cases	GPathogenic
Select item 144206	GRCh38/hg38 10q25.1-26.3(chr10:108102587-133620674)x3	LOC130004745, LOC130004746 +802 more	Copy number gain	See cases	GPathogenic
Select item 57507	GRCh38/hg38 10q25.2-26.3(chr10:111313099-133620674)x3	VAX1, VENTX +679 more	Copy number gain	See cases	GPathogenic
Select item 148437	GRCh38/hg38 10q25.2-26.12(chr10:112701186-120970617)x3	DCLRE1A, ABLIM1 +248 more	Copy number gain	See cases	GLikely pathogenic
Select item 1285816	NM_001112704.2(VAX1):c.*288T>C	VAX1	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GBenign
Select item 473144	NM_001112704.2(VAX1):c.993dup (p.Ala332fs)	VAX1 (A332fs)	Duplication (frameshift variant +1 more)	Microphthalmia, syndromic 11	GUncertain significance
Select item 2780824	NM_001112704.2(VAX1):c.945C>T (p.Ala315=)	VAX1	Single nucleotide variant (synonymous variant +1 more)	Microphthalmia, syndromic 11 +1 more	GBenign
Select item 733123	NM_001112704.2(VAX1):c.939C>T (p.Ser313=)	VAX1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2353923	NM_001112704.2(VAX1):c.919T>G (p.Ser307Ala)	VAX1 (S307A)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 196313	NM_001112704.2(VAX1):c.883A>G (p.Met295Val)	VAX1 (M295V)	Single nucleotide variant (intron variant +1 more)	not provided +1 more	GUncertain significance
Select item 2690437	NM_001112704.2(VAX1):c.853G>T (p.Ala285Ser)	VAX1 (A285S)	Single nucleotide variant (missense variant +1 more)	Microphthalmia, syndromic 11	GUncertain significance
Select item 1899584	NM_001112704.2(VAX1):c.821G>T (p.Ser274Ile)	VAX1 (S274I)	Single nucleotide variant (intron variant +1 more)	Microphthalmia, syndromic 11	GUncertain significance
Select item 283821	NM_001112704.2(VAX1):c.804G>C (p.Ala268=)	VAX1	Single nucleotide variant (synonymous variant +1 more)	not provided	GUncertain significance
Select item 2484923	NM_001112704.2(VAX1):c.721T>A (p.Ser241Thr)	VAX1 (S241T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 196314	NM_001112704.2(VAX1):c.715G>T (p.Ala239Ser)	VAX1 (A239S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2852081	NM_001112704.2(VAX1):c.714C>T (p.Gly238=)	VAX1	Single nucleotide variant (synonymous variant +1 more)	Microphthalmia, syndromic 11	GLikely benign
Select item 596357	NM_001112704.2(VAX1):c.694G>T (p.Ala232Ser)	VAX1 (A232S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 838114	NM_001112704.2(VAX1):c.684_692dup (p.Ala231_Ala233dup)	VAX1	Duplication (inframe_insertion +1 more)	Microphthalmia, syndromic 11	GBenign
Select item 707040	NM_001112704.2(VAX1):c.688G>A (p.Ala230Thr)	VAX1 (A230T)	Single nucleotide variant (missense variant +1 more)	Microphthalmia, syndromic 11	GLikely benign
Select item 1360975	NM_001112704.2(VAX1):c.671_685dup (p.Gly224_Ala228dup)	VAX1	Duplication (inframe_insertion +1 more)	Microphthalmia, syndromic 11	GUncertain significance
Select item 707045	NM_001112704.2(VAX1):c.678C>T (p.Ala226=)	VAX1	Single nucleotide variant (synonymous variant +1 more)	Microphthalmia, syndromic 11 +1 more	GLikely benign
Select item 737771	NM_001112704.2(VAX1):c.675G>T (p.Ser225=)	VAX1	Single nucleotide variant (synonymous variant +1 more)	Microphthalmia, syndromic 11	GLikely benign
Select item 784807	NM_001112704.2(VAX1):c.666T>C (p.Ala222=)	VAX1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2026441	NM_001112704.2(VAX1):c.651G>C (p.Leu217=)	VAX1	Single nucleotide variant (synonymous variant +1 more)	Microphthalmia, syndromic 11	GBenign
Select item 2462031	NM_001112704.2(VAX1):c.644C>A (p.Pro215Gln)	VAX1 (P215Q)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2038987	NM_001112704.2(VAX1):c.642G>C (p.Leu214Phe)	VAX1 (L214F)	Single nucleotide variant (missense variant +1 more)	Microphthalmia, syndromic 11	GUncertain significance
Select item 283191	NM_001112704.2(VAX1):c.642G>A (p.Leu214=)	VAX1	Single nucleotide variant (synonymous variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 2727679	NM_001112704.2(VAX1):c.638G>C (p.Ser213Thr)	VAX1 (S213T)	Single nucleotide variant (missense variant +1 more)	Microphthalmia, syndromic 11	GUncertain significance
Select item 1116533	NM_001112704.2(VAX1):c.624G>A (p.Ala208=)	VAX1	Single nucleotide variant (synonymous variant +1 more)	Microphthalmia, syndromic 11	GLikely benign
Select item 771071	NM_001112704.2(VAX1):c.621A>T (p.Ser207=)	VAX1	Single nucleotide variant (synonymous variant +1 more)	Microphthalmia, syndromic 11 +1 more	GLikely benign
Select item 784909	NM_001112704.2(VAX1):c.577C>T (p.Leu193=)	VAX1	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 2743377	NM_001112704.2(VAX1):c.561G>A (p.Leu187=)	VAX1	Single nucleotide variant (synonymous variant +1 more)	Microphthalmia, syndromic 11	GLikely benign
Select item 3006218	NM_001112704.2(VAX1):c.541C>A (p.Leu181Met)	VAX1 (L181M)	Single nucleotide variant (missense variant +1 more)	Microphthalmia, syndromic 11	GUncertain significance
Select item 2253195	NM_001112704.2(VAX1):c.538C>T (p.Arg180Trp)	VAX1 (R180W)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2169358	NM_001112704.2(VAX1):c.470A>G (p.Lys157Arg)	VAX1 (K157R)	Single nucleotide variant (missense variant +1 more)	Microphthalmia, syndromic 11	GUncertain significance
Select item 36954	NM_001112704.2(VAX1):c.454C>A (p.Arg152Ser)	VAX1 (R152S)	Single nucleotide variant (missense variant +1 more)	Microphthalmia, syndromic 11	GPathogenic
Select item 1902601	NM_001112704.2(VAX1):c.375G>T (p.Val125=)	VAX1	Single nucleotide variant (synonymous variant)	Microphthalmia, syndromic 11	GLikely benign
Select item 596456	NM_001112704.2(VAX1):c.375G>C (p.Val125=)	VAX1	Single nucleotide variant (synonymous variant)	VAX1-related condition +1 more	GConflicting classifications of pathogenicity
Select item 473143	NM_001112704.2(VAX1):c.312dup (p.Thr105fs)	VAX1 (T105fs)	Duplication (frameshift variant)	Microphthalmia, syndromic 11	GUncertain significance
Select item 793002	NM_001112704.2(VAX1):c.282C>T (p.Gly94=)	VAX1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2502829	NM_001112704.2(VAX1):c.250G>A (p.Gly84Arg)	VAX1 (G84R)	Single nucleotide variant (missense variant)	Microphthalmia, syndromic 11	GUncertain significance
Select item 2092858	NM_001112704.2(VAX1):c.242-5C>T	VAX1	Single nucleotide variant (intron variant)	VAX1-related condition +1 more	GLikely benign
Select item 2712305	NM_001112704.2(VAX1):c.241+19G>T	VAX1	Single nucleotide variant (intron variant)	Microphthalmia, syndromic 11	GLikely benign
Select item 1710333	NM_001112704.2(VAX1):c.212del (p.Pro71fs)	VAX1 (P71fs)	Deletion (frameshift variant)	Microphthalmia	GLikely pathogenic
Select item 766821	NM_001112704.2(VAX1):c.126C>T (p.Ala42=)	VAX1	Single nucleotide variant (synonymous variant)	Microphthalmia, syndromic 11 +1 more	GBenign/Likely benign
Select item 2269333	NM_001112704.2(VAX1):c.122C>G (p.Ala41Gly)	VAX1 (A41G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2718283	NM_001112704.2(VAX1):c.80A>C (p.Lys27Thr)	VAX1 (K27T)	Single nucleotide variant (missense variant)	Microphthalmia, syndromic 11	GUncertain significance
Select item 2542821	NM_001112704.2(VAX1):c.34T>C (p.Cys12Arg)	VAX1 (C12R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1248690	NM_001112704.2(VAX1):c.-65del	VAX1	Deletion (5 prime UTR variant)	not provided	GBenign
Select item 3063164	GRCh37/hg19 10q23.33-26.3(chr10:95078198-135427143)x3	ABCC2, ABLIM1 +293 more	Copy number gain	not specified	GPathogenic
Select item 3063162	GRCh37/hg19 10q25.1-26.13(chr10:107129993-123817654)x3	ABLIM1, ACSL5 +70 more	Copy number gain	not specified	GLikely pathogenic
Select item 2684621	GRCh37/hg19 10q25.1-26.3(chr10:111447991-133435388)x3	ABLIM1, ABRAXAS2 +117 more	Copy number gain	not provided	GPathogenic
Select item 2671974	GRCh37/hg19 10q25.1-26.3(chr10:111378692-135427143)x3	ABLIM1, ABRAXAS2 +145 more	Copy number gain	Distal trisomy 10q	GPathogenic
Select item 2574696	GRCh37/hg19 10p14-q26.3(chr10:11138692-135427143)	MTG1, NPS +679 more	Copy number gain	Distal trisomy 10q	GPathogenic
Select item 2574686	GRCh37/hg19 10p13-q26.3(chr10:12829206-135427143)	A1CF, ABCC2 +670 more	Copy number loss	Distal 10q deletion syndrome	GPathogenic
Select item 1527606	GRCh37/hg19 10q25.3-26.13(chr10:117019650-125217066)	ACADSB, ARMS2 +54 more	Copy number loss	not specified	GPathogenic
Select item 1527605	GRCh37/hg19 10q25.1-26.3(chr10:108455687-135427143)	ABLIM1, ABRAXAS2 +146 more	Copy number gain	not specified	GPathogenic
Select item 1330213	GRCh37/hg19 10q25.3-26.12(chr10:118891670-122349064)x1	CACUL1, PLPP4 +22 more	Copy number loss	Astigmatism +4 more	GUncertain significance
Select item 1180521	GRCh37/hg19 10q25.3-26.3(chr10:118247181-135435319)x3	ECHS1, EDRF1 +110 more	Copy number gain	not provided	GPathogenic
Select item 687114	GRCh37/hg19 10q25.2-26.3(chr10:114544537-135427143)x3	ABLIM1, ABRAXAS2 +130 more	Copy number gain	not provided	GPathogenic
Select item 625657	GRCh37/hg19 10q25.1-26.3(chr10:110022170-135439095)	ABLIM1, ABRAXAS2 +146 more	Copy number gain	not provided	GPathogenic
Select item 625556	GRCh37/hg19 10q25.3-26.13(chr10:117024753-124942806)	ACADSB, ARMS2 +54 more	Copy number loss	Distal 10q deletion syndrome	GPathogenic
Select item 563802	GRCh37/hg19 10q23.33-26.3(chr10:94346520-135427143)x3	ABCC2, ABLIM1 +298 more	Copy number gain	not provided	GPathogenic
Select item 563801	GRCh37/hg19 10q24.33-26.3(chr10:105613040-135427143)x3	ABLIM1, ABRAXAS2 +157 more	Copy number gain	not provided	GPathogenic
Select item 523165	GRCh37/hg19 10q11.21-26.3(chr10:42347406-135534747)x1	COX15, CPEB3 +569 more	Copy number loss	Poly (ADP-Ribose) polymerase inhibitor response	Gdrug response
Select item 443838	GRCh37/hg19 10q25.1-26.3(chr10:106003533-135427143)x3	ABLIM1, ABRAXAS2 +151 more	Copy number gain	See cases	GPathogenic
Select item 443323	GRCh37/hg19 10q23.32-26.3(chr10:93283493-135427143)x3	ABCC2, ABLIM1 +305 more	Copy number gain	See cases	GPathogenic
Select item 441987	GRCh37/hg19 10p15.3-q26.3(chr10:100027-135427143)	A1CF, ABCC2 +722 more	Copy number gain	See cases	GPathogenic
Select item 441986	GRCh37/hg19 10p15.3-q26.3(chr10:100027-135427143)x3	NFKB2, NHLRC2 +722 more	Copy number gain	See cases	GPathogenic
Select item 393995	GRCh37/hg19 10p15.3-q26.3(chr10:93297-135378918)x3	A1CF, ANXA8L1 +723 more	Copy number gain	See cases	GPathogenic
Select item 253479	GRCh37/hg19 10q24.32-26.3(chr10:103288313-135512075)x3	ABLIM1, ABRAXAS2 +201 more	Copy number gain	See cases	GPathogenic

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Items: 73