"Genome Diagnostics Laboratory, Amsterdam University Medical Center"[s - ClinVar

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Items: 26

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1210015	NM_001365276.2(TNXB):c.12210+5G>A	LOC106780803, TNXB	Single nucleotide variant (intron variant)	Ehlers-Danlos syndrome due to tenascin-X deficiency +2 more	GLikely benign
Select item 1179372	NM_001365276.2(TNXB):c.12058+15G>A	LOC106780803, TNXB	Single nucleotide variant (intron variant)	not provided +2 more	GLikely benign
Select item 1205924	NM_001365276.2(TNXB):c.10673G>A (p.Arg3558His)	LOC106780803, TNXB (R3556H +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GBenign/Likely benign
Select item 261182	NM_001365276.2(TNXB):c.9699T>C (p.His3233=)	TNXB	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign
Select item 1207698	NM_001365276.2(TNXB):c.9663G>A (p.Val3221=)	TNXB	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +2 more	GBenign/Likely benign
Select item 1209938	NM_001365276.2(TNXB):c.9612C>T (p.Asp3204=)	TNXB	Single nucleotide variant (synonymous variant)	Ehlers-Danlos syndrome +2 more	GBenign/Likely benign
Select item 623663	NM_001365276.2(TNXB):c.9314G>A (p.Arg3105Gln)	TNXB (R3103Q +1 more)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome +4 more	GLikely benign
Select item 261172	NM_001365276.2(TNXB):c.8845C>A (p.Pro2949Thr)	TNXB (P2947T +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +3 more	GBenign
Select item 1210080	NM_001365276.2(TNXB):c.7954G>A (p.Glu2652Lys)	TNXB (E2652K)	Single nucleotide variant (missense variant)	not provided +3 more	GLikely benign
Select item 1186026	NM_001365276.2(TNXB):c.7906A>G (p.Met2636Val)	TNXB (M2636V)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome +3 more	GLikely benign
Select item 261162	NM_001365276.2(TNXB):c.7553G>A (p.Gly2518Glu)	TNXB (G2518E)	Single nucleotide variant (missense variant)	not specified +4 more	GBenign
Select item 871707	NM_001365276.2(TNXB):c.6973G>A (p.Val2325Ile)	TNXB (V2325I)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +3 more	GConflicting classifications of pathogenicity
Select item 1209894	NM_001365276.2(TNXB):c.6819C>T (p.Pro2273=)	TNXB	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +2 more	GLikely benign
Select item 546997	NM_001365276.2(TNXB):c.4562C>T (p.Ala1521Val)	TNXB (A1521V)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome +2 more	GBenign/Likely benign
Select item 1258568	NM_001365276.2(TNXB):c.4484C>T (p.Thr1495Ile)	TNXB (T1495I)	Single nucleotide variant (missense variant)	not provided +4 more	GBenign/Likely benign
Select item 1210108	NM_001365276.2(TNXB):c.4323C>T (p.Tyr1441=)	TNXB	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 809904	NM_001365276.2(TNXB):c.4209C>T (p.Thr1403=)	TNXB	Single nucleotide variant (synonymous variant)	Ehlers-Danlos syndrome due to tenascin-X deficiency +3 more	GLikely benign
Select item 261137	NM_001365276.2(TNXB):c.3764G>A (p.Arg1255His)	TNXB (R1255H)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign
Select item 1210001	NM_001365276.2(TNXB):c.2981G>A (p.Arg994His)	TNXB (R994H)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GConflicting classifications of pathogenicity
Select item 1209904	NM_001365276.2(TNXB):c.2590C>T (p.Gln864Ter)	TNXB (Q864*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic/Likely pathogenic
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 634508	NM_001365276.2(TNXB):c.2170C>T (p.Arg724Cys)	TNXB (R724C)	Single nucleotide variant (missense variant)	not provided +5 more	GConflicting classifications of pathogenicity
Select item 426989	NM_001365276.2(TNXB):c.2030A>G (p.Asp677Gly)	TNXB (D677G)	Single nucleotide variant (missense variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 1328010	NM_001365276.2(TNXB):c.1671C>T (p.Arg557=)	TNXB	Single nucleotide variant (synonymous variant)	TNXB-related disorder +1 more	GLikely benign
Select item 809909	NM_001365276.2(TNXB):c.1302C>G (p.Ala434=)	TNXB	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 261174	NM_001365276.2(TNXB):c.904A>G (p.Thr302Ala)	TNXB (T302A)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign

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Items: 26