"MGZ Medical Genetics Center"[submitter] AND "TNXB"[gene] - ClinVar - NCBI

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Items: 13

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1709403	NM_001365276.2(TNXB):c.12161G>C (p.Arg4054Pro)	LOC106780803, TNXB (R4052P +2 more)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome due to tenascin-X deficiency	GUncertain significance
Select item 1709044	NM_001365276.2(TNXB):c.9664G>C (p.Gly3222Arg)	TNXB (G3220R +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GConflicting classifications of pathogenicity
Select item 871704	NM_001365276.2(TNXB):c.8432G>A (p.Arg2811Gln)	TNXB (R2811Q)	Single nucleotide variant (missense variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 809901	NM_001365276.2(TNXB):c.6649C>A (p.Pro2217Thr)	TNXB (P2217T)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +4 more	GConflicting classifications of pathogenicity
Select item 985009	NM_001365276.2(TNXB):c.5488A>C (p.Ser1830Arg)	TNXB (S1830R)	Single nucleotide variant (missense variant)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 1709405	NM_001365276.2(TNXB):c.4220A>G (p.Lys1407Arg)	TNXB (K1407R)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome due to tenascin-X deficiency	GUncertain significance
Select item 1709217	NM_001365276.2(TNXB):c.4168C>G (p.Leu1390Val)	TNXB (L1390V)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome due to tenascin-X deficiency	GUncertain significance
Select item 871710	NM_001365276.2(TNXB):c.3488G>A (p.Gly1163Glu)	TNXB (G1163E)	Single nucleotide variant (missense variant)	Vesicoureteral reflux 8 +5 more	GConflicting classifications of pathogenicity
Select item 1708970	NM_001365276.2(TNXB):c.2521G>A (p.Asp841Asn)	TNXB (D841N)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 373424	NM_001365276.2(TNXB):c.2461C>T (p.Arg821Ter)	TNXB (R821*)	Single nucleotide variant (nonsense)	not provided +3 more	GPathogenic/Likely pathogenic
Select item 1709155	NM_001365276.2(TNXB):c.2301_2309del (p.Glu768_Thr770del)	TNXB	Deletion (inframe_deletion)	Ehlers-Danlos syndrome due to tenascin-X deficiency	GUncertain significance
Select item 1709154	NM_001365276.2(TNXB):c.1806C>A (p.Asp602Glu)	TNXB (D602E)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome due to tenascin-X deficiency	GUncertain significance
Select item 1709390	NM_001365276.2(TNXB):c.1785C>G (p.Ser595Arg)	TNXB (S595R)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome due to tenascin-X deficiency	GUncertain significance