"Ambry Genetics"[submitter] AND "VAX1"[gene] - ClinVar

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Items: 20

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2353923	NM_001112704.2(VAX1):c.919T>G (p.Ser307Ala)	VAX1 (S307A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 196313	NM_001112704.2(VAX1):c.883A>G (p.Met295Val)	VAX1 (M295V)	Single nucleotide variant (missense variant +1 more)	Microphthalmia, syndromic 11 +2 more	GUncertain significance
Select item 3188312	NM_001112704.2(VAX1):c.833C>A (p.Pro278His)	VAX1 (P278H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3331902	NM_001112704.2(VAX1):c.730C>T (p.Pro244Ser)	VAX1 (P244S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2484923	NM_001112704.2(VAX1):c.721T>A (p.Ser241Thr)	VAX1 (S241T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 196314	NM_001112704.2(VAX1):c.715G>T (p.Ala239Ser)	VAX1 (A239S)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GUncertain significance
Select item 3331901	NM_001112704.2(VAX1):c.701C>T (p.Pro234Leu)	VAX1 (P234L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 596357	NM_001112704.2(VAX1):c.694G>T (p.Ala232Ser)	VAX1 (A232S)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GUncertain significance
Select item 3331899	NM_001112704.2(VAX1):c.691G>A (p.Ala231Thr)	VAX1 (A231T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3188311	NM_001112704.2(VAX1):c.680C>T (p.Ala227Val)	VAX1 (A227V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2462031	NM_001112704.2(VAX1):c.644C>A (p.Pro215Gln)	VAX1 (P215Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3188310	NM_001112704.2(VAX1):c.634C>T (p.Pro212Ser)	VAX1 (P212S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3188309	NM_001112704.2(VAX1):c.634C>A (p.Pro212Thr)	VAX1 (P212T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3331904	NM_001112704.2(VAX1):c.617G>T (p.Gly206Val)	VAX1 (G206V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3331903	NM_001112704.2(VAX1):c.605C>G (p.Thr202Arg)	VAX1 (T202R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3188308	NM_001112704.2(VAX1):c.596C>A (p.Pro199His)	VAX1 (P199H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2253195	NM_001112704.2(VAX1):c.538C>T (p.Arg180Trp)	VAX1 (R180W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2269333	NM_001112704.2(VAX1):c.122C>G (p.Ala41Gly)	VAX1 (A41G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3188307	NM_001112704.2(VAX1):c.119C>G (p.Pro40Arg)	VAX1 (P40R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2542821	NM_001112704.2(VAX1):c.34T>C (p.Cys12Arg)	VAX1 (C12R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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Items: 20