"Revvity Omics, Revvity"[submitter] AND "TNXB"[gene] - ClinVar

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Items: 39

	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)	CYP21A2-related condition +3 more	GPathogenic
Select item 2437170	NM_001365276.2(TNXB):c.12493G>A (p.Gly4165Ser)	LOC106780803, TNXB (G4163S +2 more)	Single nucleotide variant (missense variant)	Vesicoureteral reflux 8	GUncertain significance
Select item 2437168	NM_001365276.2(TNXB):c.11458C>T (p.Arg3820Cys)	LOC106780803, TNXB (R249C +3 more)	Single nucleotide variant (missense variant)	Vesicoureteral reflux 8	GUncertain significance
Select item 2437166	NM_001365276.2(TNXB):c.11422C>G (p.Arg3808Gly)	LOC106780803, TNXB (R237G +2 more)	Single nucleotide variant (missense variant)	Vesicoureteral reflux 8	GUncertain significance
Select item 2434194	NM_001365276.2(TNXB):c.10291C>T (p.Arg3431Ter)	LOC126859654, TNXB (R3429* +1 more)	Single nucleotide variant (nonsense)	Vesicoureteral reflux 8	GLikely pathogenic
Select item 1325210	NM_001365276.2(TNXB):c.9758-2_9758-1del	TNXB	Deletion (splice acceptor variant)	Vesicoureteral reflux 8	GLikely pathogenic
Select item 209197	NM_001365276.2(TNXB):c.9637A>G (p.Arg3213Gly)	TNXB (R3211G +1 more)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome +4 more	GConflicting classifications of pathogenicity
Select item 1254615	NM_001365276.2(TNXB):c.9617A>G (p.Gln3206Arg)	TNXB (Q3204R +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 more	GConflicting classifications of pathogenicity
Select item 1290218	NM_001365276.2(TNXB):c.8680G>A (p.Glu2894Lys)	TNXB (E2892K +1 more)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 1325212	NM_001365276.2(TNXB):c.8473G>A (p.Glu2825Lys)	TNXB (E2825K)	Single nucleotide variant (missense variant +1 more)	Vesicoureteral reflux 8 +1 more	GLikely pathogenic
Select item 1323701	NM_001365276.2(TNXB):c.8411del (p.Leu2804fs)	TNXB (L2804fs)	Deletion (frameshift variant)	Vesicoureteral reflux 8	GPathogenic
Select item 871705	NM_001365276.2(TNXB):c.8012C>T (p.Ala2671Val)	TNXB (A2671V)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 546996	NM_001365276.2(TNXB):c.7889G>A (p.Arg2630His)	TNXB (R2630H)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1323700	NM_001365276.2(TNXB):c.7826-1G>C	TNXB	Single nucleotide variant (splice acceptor variant)	Cardiovascular phenotype +2 more	GPathogenic/Likely pathogenic
Select item 2437172	NM_001365276.2(TNXB):c.7093A>C (p.Asn2365His)	TNXB (N2365H)	Single nucleotide variant (missense variant)	Vesicoureteral reflux 8 +1 more	GConflicting classifications of pathogenicity
Select item 871707	NM_001365276.2(TNXB):c.6973G>A (p.Val2325Ile)	TNXB (V2325I)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 2437167	NM_001365276.2(TNXB):c.6820G>C (p.Val2274Leu)	TNXB (V2274L)	Single nucleotide variant (missense variant)	Vesicoureteral reflux 8	GUncertain significance
Select item 1697980	NM_001365276.2(TNXB):c.6269C>T (p.Pro2090Leu)	TNXB (P2090L)	Single nucleotide variant (missense variant)	Vesicoureteral reflux 8 +1 more	GUncertain significance
Select item 1752009	NM_001365276.2(TNXB):c.6171C>T (p.Gly2057=)	TNXB	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +2 more	GConflicting classifications of pathogenicity
Select item 2437165	NM_001365276.2(TNXB):c.5986A>G (p.Thr1996Ala)	TNXB (T1996A)	Single nucleotide variant (missense variant)	Vesicoureteral reflux 8	GUncertain significance
Select item 1325213	NM_001365276.2(TNXB):c.5882_5883del (p.Val1961fs)	TNXB (V1961fs)	Deletion (frameshift variant)	Vesicoureteral reflux 8	GLikely pathogenic
Select item 932469	NM_001365276.2(TNXB):c.5103C>A (p.Phe1701Leu)	TNXB (F1701L)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 more	GUncertain significance
Select item 2437171	NM_001365276.2(TNXB):c.4802A>C (p.Glu1601Ala)	TNXB (E1601A)	Single nucleotide variant (missense variant)	Vesicoureteral reflux 8	GUncertain significance
Select item 1740514	NM_001365276.2(TNXB):c.4426C>T (p.Arg1476Cys)	TNXB (R1476C)	Single nucleotide variant (missense variant)	Vesicoureteral reflux 8 +1 more	GUncertain significance
Select item 1190839	NM_001365276.2(TNXB):c.4413C>T (p.Ser1471=)	TNXB	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +2 more	GConflicting classifications of pathogenicity
Select item 1805011	NM_001365276.2(TNXB):c.3763dup (p.Arg1255fs)	TNXB (R1255fs)	Duplication (frameshift variant)	Vesicoureteral reflux 8 +1 more	GPathogenic/Likely pathogenic
Select item 871710	NM_001365276.2(TNXB):c.3488G>A (p.Gly1163Glu)	TNXB (G1163E)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome due to tenascin-X deficiency +4 more	GUncertain significance
Select item 1729992	NM_001365276.2(TNXB):c.3301G>A (p.Gly1101Arg)	TNXB (G1101R)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1215208	NM_001365276.2(TNXB):c.3226G>A (p.Asp1076Asn)	TNXB (D1076N)	Single nucleotide variant (missense variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 1213388	NM_001365276.2(TNXB):c.2783C>A (p.Ser928Tyr)	TNXB (S928Y)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome due to tenascin-X deficiency +4 more	GUncertain significance
Select item 2437175	NM_001365276.2(TNXB):c.2409A>C (p.Ser803=)	TNXB	Single nucleotide variant (synonymous variant)	Vesicoureteral reflux 8	GUncertain significance
Select item 2437169	NM_001365276.2(TNXB):c.1762A>T (p.Arg588Trp)	TNXB (R588W)	Single nucleotide variant (missense variant)	Vesicoureteral reflux 8	GUncertain significance
Select item 2437174	NM_001365276.2(TNXB):c.1756G>A (p.Gly586Ser)	TNXB (G586S)	Single nucleotide variant (missense variant)	Vesicoureteral reflux 8	GUncertain significance
Select item 1333728	NM_001365276.2(TNXB):c.1739A>G (p.Tyr580Cys)	TNXB (Y580C)	Single nucleotide variant (missense variant)	Vesicoureteral reflux 8 +2 more	GUncertain significance
Select item 1325211	NM_001365276.2(TNXB):c.1650_1651del (p.Glu552fs)	TNXB (E552fs)	Deletion (frameshift variant)	Vesicoureteral reflux 8	GLikely pathogenic
Select item 1702314	NM_001365276.2(TNXB):c.1530C>T (p.Gly510=)	TNXB	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +2 more	GConflicting classifications of pathogenicity
Select item 1204910	NM_001365276.2(TNXB):c.529C>T (p.Pro177Ser)	TNXB (P177S)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 more	GUncertain significance
Select item 2690767	NM_001365276.2(TNXB):c.200_208delinsTGGAAGG (p.Gly67fs)	TNXB (G67fs)	Indel (frameshift variant)	Vesicoureteral reflux 8	GLikely pathogenic
Select item 2437173	NM_001365276.2(TNXB):c.-8-2349G>A	TNXB	Single nucleotide variant (intron variant)	Vesicoureteral reflux 8	GUncertain significance

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Items: 39