C1848029[trait identifier] AND "Zotz-Klimas Genetics Lab, MVZ Zotz Kli - ClinVar - NCBI

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Items: 9

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2582719	NM_001365276.2(TNXB):c.12376G>A (p.Asp4126Asn)	LOC106780803, TNXB (D4124N +2 more)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome due to tenascin-X deficiency	GUncertain significance
Select item 2582761	NM_001365276.2(TNXB):c.11983A>G (p.Thr3995Ala)	LOC106780803, TNXB (T3993A +2 more)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome due to tenascin-X deficiency	GUncertain significance
Select item 2582742	NM_001365276.2(TNXB):c.9226C>T (p.Leu3076Phe)	TNXB (L3074F +1 more)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome due to tenascin-X deficiency	GUncertain significance
Select item 1707348	NM_001365276.2(TNXB):c.6493G>A (p.Gly2165Ser)	TNXB (G2165S)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 423634	NM_001365276.2(TNXB):c.4958G>A (p.Arg1653Gln)	TNXB (R1653Q)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1301475	NM_001365276.2(TNXB):c.3814G>A (p.Val1272Met)	TNXB (V1272M)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GUncertain significance
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 426989	NM_001365276.2(TNXB):c.2030A>G (p.Asp677Gly)	TNXB (D677G)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome due to tenascin-X deficiency +4 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