"Eurofins Ntd Llc (ga)"[submitter] AND "VAX1"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 283821	NM_001112704.2(VAX1):c.804G>C (p.Ala268=)	VAX1	Single nucleotide variant (synonymous variant +1 more)	not provided	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 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 283191	NM_001112704.2(VAX1):c.642G>A (p.Leu214=)	VAX1	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 596456	NM_001112704.2(VAX1):c.375G>C (p.Val125=)	VAX1	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance

ClinVar