"Baylor Genetics"[submitter] AND "TNXB"[gene] - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 14

	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 449837	NM_001365276.2(TNXB):c.12469+2T>C	LOC106780803, TNXB	Single nucleotide variant (splice donor variant)	not provided +1 more	GUncertain significance
Select item 209196	NM_001365276.2(TNXB):c.9661G>A (p.Val3221Met)	TNXB (V3219M +1 more)	Single nucleotide variant (missense variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 209197	NM_001365276.2(TNXB):c.9637A>G (p.Arg3213Gly)	TNXB (R3211G +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +4 more	GConflicting classifications of pathogenicity
Select item 1032822	NM_001365276.2(TNXB):c.9072C>A (p.His3024Gln)	TNXB (H3022Q +1 more)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome due to tenascin-X deficiency	GUncertain significance
Select item 827991	NM_001365276.2(TNXB):c.8761G>A (p.Val2921Met)	TNXB (V2919M +1 more)	Single nucleotide variant (missense variant)	Vesicoureteral reflux 8 +3 more	GConflicting classifications of pathogenicity
Select item 521772	NM_001365276.2(TNXB):c.7856C>T (p.Pro2619Leu)	TNXB (P2619L)	Single nucleotide variant (missense variant)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 1032818	NM_001365276.2(TNXB):c.5869C>T (p.His1957Tyr)	TNXB (H1957Y)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome due to tenascin-X deficiency	GUncertain significance
Select item 1032817	NM_001365276.2(TNXB):c.5800A>C (p.Ile1934Leu)	TNXB (I1934L)	Single nucleotide variant (missense variant)	Vesicoureteral reflux 8	GUncertain significance
Select item 1032816	NM_001365276.2(TNXB):c.4861G>A (p.Val1621Met)	TNXB (V1621M)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 more	GUncertain significance
Select item 1254233	NM_001365276.2(TNXB):c.2584C>T (p.Arg862Cys)	TNXB (R862C)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 426989	NM_001365276.2(TNXB):c.2030A>G (p.Asp677Gly)	TNXB (D677G)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome +4 more	GConflicting classifications of pathogenicity
Select item 1032820	NM_001365276.2(TNXB):c.788G>A (p.Arg263His)	TNXB (R263H)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 625706	GRCh37/hg19 6p22.1-q14.1(chr6:29455465-81447367)	ERVH-3, ETV7 +427 more	Copy number gain	not provided	GPathogenic