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

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 12169	NM_000500.7(CYP21A2):c.955C>T (p.Gln319Ter)	CYP21A2, LOC106780800 +1 more (Q319* +2 more)	Single nucleotide variant (nonsense)	not provided +2 more	GPathogenic
Select item 445854	NM_000500.9(CYP21A2):c.1439G>T (p.Arg480Leu)	CYP21A2, LOC106780800 +1 more (R480L +2 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 598088	NM_001365276.2(TNXB):c.12148G>A (p.Gly4050Ser)	LOC106780803, TNXB (G4050S +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 598089	NM_001365276.2(TNXB):c.8186A>G (p.Glu2729Gly)	TNXB (E2729G)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome due to tenascin-X deficiency +3 more	GUncertain significance
Select item 286132	NM_001365276.2(TNXB):c.2927G>A (p.Arg976His)	TNXB (R976H)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GConflicting classifications of pathogenicity
Select item 500021	NM_001365276.2(TNXB):c.1259T>C (p.Val420Ala)	TNXB (V420A)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GConflicting classifications of pathogenicity
Select item 289817	NM_001365276.2(TNXB):c.211G>T (p.Val71Leu)	TNXB (V71L)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance

ClinVar