C1848029[trait identifier] AND "Center for Genomics, Ann and Robert H. - ClinVar - NCBI

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Items: 19

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 626034	NM_001365276.2(TNXB):c.10633G>A (p.Glu3545Lys)	LOC106780803, TNXB (E3543K +1 more)	Single nucleotide variant (missense variant +1 more)	Vesicoureteral reflux 8 +1 more	GUncertain significance
Select item 827991	NM_001365276.2(TNXB):c.8761G>A (p.Val2921Met)	TNXB (V2919M +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +4 more	GConflicting classifications of pathogenicity
Select item 1253691	NM_001365276.2(TNXB):c.7946C>T (p.Thr2649Met)	TNXB (T2649M)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 1675141	NM_001365276.2(TNXB):c.7819G>A (p.Val2607Ile)	TNXB (V2607I)	Single nucleotide variant (missense variant)	Vesicoureteral reflux 8 +1 more	GUncertain significance
Select item 1254703	NM_001365276.2(TNXB):c.7750C>T (p.Arg2584Cys)	TNXB (R2584C)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome +4 more	GConflicting classifications of pathogenicity
Select item 261149	NM_001365276.2(TNXB):c.6544+8T>A	TNXB	Single nucleotide variant (intron variant)	Ehlers-Danlos syndrome due to tenascin-X deficiency +4 more	GConflicting classifications of pathogenicity
Select item 626035	NM_001365276.2(TNXB):c.6177C>G (p.His2059Gln)	TNXB (H2059Q)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome due to tenascin-X deficiency +3 more	GUncertain significance
Select item 2500102	NM_001365276.2(TNXB):c.5981C>T (p.Thr1994Ile)	TNXB (T1994I)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome due to tenascin-X deficiency +2 more	GUncertain significance
Select item 1675139	NM_001365276.2(TNXB):c.5902+9T>C	TNXB	Single nucleotide variant (intron variant)	Vesicoureteral reflux 8 +1 more	GUncertain significance
Select item 1675140	NM_001365276.2(TNXB):c.5723T>A (p.Phe1908Tyr)	TNXB (F1908Y)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome due to tenascin-X deficiency +2 more	GUncertain significance
Select item 626036	NM_001365276.2(TNXB):c.5416T>C (p.Phe1806Leu)	TNXB (F1806L)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome due to tenascin-X deficiency +3 more	GUncertain significance
Select item 626037	NM_001365276.2(TNXB):c.3212C>G (p.Thr1071Arg)	TNXB (T1071R)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome due to tenascin-X deficiency +2 more	GUncertain significance
Select item 1176197	NM_001365276.2(TNXB):c.2811C>A (p.Thr937=)	TNXB	Single nucleotide variant (synonymous variant)	Ehlers-Danlos syndrome due to tenascin-X deficiency +5 more	GConflicting classifications of pathogenicity
Select item 1675143	NM_001365276.2(TNXB):c.2703C>T (p.Gly901=)	TNXB	Single nucleotide variant (synonymous variant)	Ehlers-Danlos syndrome due to tenascin-X deficiency +2 more	GUncertain significance
Select item 1675142	NM_001365276.2(TNXB):c.2296C>T (p.Arg766Trp)	TNXB (R766W)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome due to tenascin-X deficiency +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 due to tenascin-X deficiency +4 more	GConflicting classifications of pathogenicity
Select item 626191	NM_001365276.2(TNXB):c.861G>A (p.Arg287=)	TNXB	Single nucleotide variant (synonymous variant)	Ehlers-Danlos syndrome due to tenascin-X deficiency +2 more	GConflicting classifications of pathogenicity
Select item 992505	NM_001365276.2(TNXB):c.562C>T (p.Pro188Ser)	TNXB (P188S)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 more	GUncertain significance
Select item 992504	NM_001365276.2(TNXB):c.287T>A (p.Leu96His)	TNXB (L96H)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome due to tenascin-X deficiency +1 more	GUncertain significance