ClinVar for MedGen (Select 863268) - ClinVar - NCBI

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

Links from MedGen

Items: 1 to 100 of 122

<< First< Prev

Page of 2

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3066379	NM_001365276.2(TNXB):c.4681+5G>A	TNXB	Single nucleotide variant (intron variant)	Vesicoureteral reflux 8	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 2580990	NM_001365276.2(TNXB):c.8326C>T (p.Arg2776Trp)	TNXB (R2776W)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome due to tenascin-X deficiency +1 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 2437175	NM_001365276.2(TNXB):c.2409A>C (p.Ser803=)	TNXB	Single nucleotide variant (synonymous 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 2437173	NM_001365276.2(TNXB):c.-8-2349G>A	TNXB	Single nucleotide variant (intron variant)	Vesicoureteral reflux 8	GUncertain significance
Select item 2437172	NM_001365276.2(TNXB):c.7093A>C (p.Asn2365His)	TNXB (N2365H)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GConflicting classifications of pathogenicity
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 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 2437169	NM_001365276.2(TNXB):c.1762A>T (p.Arg588Trp)	TNXB (R588W)	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 2437167	NM_001365276.2(TNXB):c.6820G>C (p.Val2274Leu)	TNXB (V2274L)	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 2437165	NM_001365276.2(TNXB):c.5986A>G (p.Thr1996Ala)	TNXB (T1996A)	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 2412798	NM_001365276.2(TNXB):c.5645C>T (p.Pro1882Leu)	TNXB (P1882L)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome due to tenascin-X deficiency +1 more	Gnot provided
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 1752009	NM_001365276.2(TNXB):c.6171C>T (p.Gly2057=)	TNXB	Single nucleotide variant (synonymous variant)	Vesicoureteral reflux 8 +2 more	GConflicting classifications of pathogenicity
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 1729992	NM_001365276.2(TNXB):c.3301G>A (p.Gly1101Arg)	TNXB (G1101R)	Single nucleotide variant (missense variant)	Vesicoureteral reflux 8 +2 more	GUncertain significance
Select item 1729466	NM_001365276.2(TNXB):c.3256G>A (p.Glu1086Lys)	TNXB (E1086K)	Single nucleotide variant (missense variant)	Vesicoureteral reflux 8 +1 more	GUncertain significance
Select item 1702314	NM_001365276.2(TNXB):c.1530C>T (p.Gly510=)	TNXB	Single nucleotide variant (synonymous variant)	Vesicoureteral reflux 8 +2 more	GConflicting classifications of pathogenicity
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 1676014	NM_001365276.2(TNXB):c.12058+6T>G	LOC106780803, TNXB	Single nucleotide variant (intron variant)	Vesicoureteral reflux 8 +2 more	GLikely benign
Select item 1675143	NM_001365276.2(TNXB):c.2703C>T (p.Gly901=)	TNXB	Single nucleotide variant (synonymous variant)	Vesicoureteral reflux 8 +2 more	GUncertain significance
Select item 1675142	NM_001365276.2(TNXB):c.2296C>T (p.Arg766Trp)	TNXB (R766W)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 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 1675140	NM_001365276.2(TNXB):c.5723T>A (p.Phe1908Tyr)	TNXB (F1908Y)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +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 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 1331711	NM_001365276.2(TNXB):c.9941C>T (p.Ala3314Val)	TNXB (A3312V +1 more)	Single nucleotide variant (missense variant)	Vesicoureteral reflux 8	GUncertain significance
Select item 1326711	NM_001365276.2(TNXB):c.6833G>T (p.Gly2278Val)	TNXB (G2278V)	Single nucleotide variant (missense variant)	not provided +3 more	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 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 1325211	NM_001365276.2(TNXB):c.1650_1651del (p.Glu552fs)	TNXB (E552fs)	Deletion (frameshift variant)	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 1323701	NM_001365276.2(TNXB):c.8411del (p.Leu2804fs)	TNXB (L2804fs)	Deletion (frameshift variant)	Vesicoureteral reflux 8	GPathogenic
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 1320648	NM_001365276.2(TNXB):c.209A>G (p.Gln70Arg)	TNXB (Q70R)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome +4 more	GUncertain significance
Select item 1304283	NM_001365276.2(TNXB):c.7783G>A (p.Glu2595Lys)	TNXB (E2595K)	Single nucleotide variant (missense variant)	Vesicoureteral reflux 8 +3 more	GUncertain significance
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 1258568	NM_001365276.2(TNXB):c.4484C>T (p.Thr1495Ile)	TNXB (T1495I)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome +4 more	GBenign/Likely benign
Select item 1254703	NM_001365276.2(TNXB):c.7750C>T (p.Arg2584Cys)	TNXB (R2584C)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome due to tenascin-X deficiency +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)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1253691	NM_001365276.2(TNXB):c.7946C>T (p.Thr2649Met)	TNXB (T2649M)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome due to tenascin-X deficiency +3 more	GUncertain significance
Select item 1251697	NM_001365276.2(TNXB):c.2516-17_2516-15del	TNXB	Microsatellite (intron variant)	Ehlers-Danlos syndrome due to tenascin-X deficiency +2 more	GBenign
Select item 1235972	NM_001365276.2(TNXB):c.*163G>A	CYP21A2, TNXB	Single nucleotide variant (3 prime UTR variant)	Ehlers-Danlos syndrome due to tenascin-X deficiency +2 more	GBenign
Select item 1226831	NM_001365276.2(TNXB):c.5442C>G (p.Asp1814Glu)	TNXB (D1814E)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome due to tenascin-X deficiency +4 more	GBenign/Likely benign
Select item 1220472	NM_001365276.2(TNXB):c.6303A>G (p.Leu2101=)	TNXB	Single nucleotide variant (synonymous variant)	Vesicoureteral reflux 8 +5 more	GConflicting classifications of pathogenicity
Select item 1217755	NM_001365276.2(TNXB):c.6211G>A (p.Gly2071Arg)	TNXB (G2071R)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome due to tenascin-X deficiency +4 more	GUncertain significance
Select item 1216708	NM_001365276.2(TNXB):c.3761C>G (p.Pro1254Arg)	TNXB (P1254R)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome due to tenascin-X deficiency +4 more	GUncertain significance
Select item 1215804	NM_001365276.2(TNXB):c.113G>A (p.Arg38Gln)	TNXB (R38Q)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome due to tenascin-X deficiency +4 more	GBenign/Likely benign
Select item 1215208	NM_001365276.2(TNXB):c.3226G>A (p.Asp1076Asn)	TNXB (D1076N)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome due to tenascin-X deficiency +4 more	GConflicting classifications of pathogenicity
Select item 1214713	NM_001365276.2(TNXB):c.9458C>G (p.Pro3153Arg)	TNXB (P3151R +1 more)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome due to tenascin-X deficiency +3 more	GUncertain significance
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 1211759	NM_001365276.2(TNXB):c.8468-1G>A	TNXB	Single nucleotide variant (intron variant +1 more)	Ehlers-Danlos syndrome due to tenascin-X deficiency +4 more	GConflicting classifications of pathogenicity
Select item 1211473	NM_001365276.2(TNXB):c.2385A>G (p.Thr795=)	TNXB	Single nucleotide variant (synonymous variant)	not provided +3 more	GLikely benign
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 1207409	NM_001365276.2(TNXB):c.7051G>A (p.Gly2351Arg)	TNXB (G2351R)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome due to tenascin-X deficiency +3 more	GBenign/Likely benign
Select item 1207037	NM_001365276.2(TNXB):c.4010G>A (p.Arg1337His)	TNXB (R1337H)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome +4 more	GUncertain significance
Select item 1206426	NM_001365276.2(TNXB):c.1496G>A (p.Gly499Asp)	TNXB (G499D)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome due to tenascin-X deficiency +3 more	GUncertain significance
Select item 1205063	NM_001365276.2(TNXB):c.9762C>T (p.Pro3254=)	TNXB	Single nucleotide variant (synonymous variant)	not provided +4 more	GBenign/Likely benign
Select item 1204910	NM_001365276.2(TNXB):c.529C>T (p.Pro177Ser)	TNXB (P177S)	Single nucleotide variant (missense variant)	Vesicoureteral reflux 8 +2 more	GUncertain significance
Select item 1204062	NM_001365276.2(TNXB):c.9580G>A (p.Asp3194Asn)	TNXB (D3192N +1 more)	Single nucleotide variant (missense variant)	Vesicoureteral reflux 8 +5 more	GUncertain significance
Select item 1201535	NM_001365276.2(TNXB):c.86G>A (p.Arg29Gln)	TNXB (R29Q)	Single nucleotide variant (missense variant)	Vesicoureteral reflux 8 +5 more	GBenign/Likely benign
Select item 1197303	NM_001365276.2(TNXB):c.7802C>T (p.Pro2601Leu)	TNXB (P2601L)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome due to tenascin-X deficiency +3 more	GConflicting classifications of pathogenicity
Select item 1193708	NM_001365276.2(TNXB):c.12592G>A (p.Ala4198Thr)	LOC106780803, TNXB (A4196T +2 more)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome due to tenascin-X deficiency +2 more	GLikely benign
Select item 1191032	NM_001365276.2(TNXB):c.2083C>T (p.Arg695Trp)	TNXB (R695W)	Single nucleotide variant (missense variant)	not provided +3 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 1189567	NM_001365276.2(TNXB):c.7413T>C (p.Pro2471=)	TNXB	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign/Likely benign
Select item 1188758	NM_001365276.2(TNXB):c.7704T>C (p.Val2568=)	TNXB	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign/Likely benign
Select item 1188741	NM_001365276.2(TNXB):c.8631G>C (p.Gln2877His)	TNXB (Q2875H +1 more)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
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 1178595	NM_001365276.2(TNXB):c.6024A>G (p.Thr2008=)	TNXB	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign/Likely benign
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 1050758	NM_001365276.2(TNXB):c.3034G>A (p.Val1012Ile)	TNXB (V1012I)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome +4 more	GConflicting classifications of pathogenicity
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 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
Select item 932469	NM_001365276.2(TNXB):c.5103C>A (p.Phe1701Leu)	TNXB (F1701L)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 871710	NM_001365276.2(TNXB):c.3488G>A (p.Gly1163Glu)	TNXB (G1163E)	Single nucleotide variant (missense variant)	Vesicoureteral reflux 8 +4 more	GUncertain significance
Select item 871707	NM_001365276.2(TNXB):c.6973G>A (p.Val2325Ile)	TNXB (V2325I)	Single nucleotide variant (missense variant)	Vesicoureteral reflux 8 +3 more	GUncertain significance
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 871702	NM_001365276.2(TNXB):c.9212C>T (p.Ala3071Val)	TNXB (A3069V +1 more)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome due to tenascin-X deficiency +3 more	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 +4 more	GConflicting classifications of pathogenicity
Select item 809904	NM_001365276.2(TNXB):c.4209C>T (p.Thr1403=)	TNXB	Single nucleotide variant (synonymous variant)	not provided +3 more	GLikely benign
Select item 634508	NM_001365276.2(TNXB):c.2170C>T (p.Arg724Cys)	TNXB (R724C)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome +5 more	GConflicting classifications of pathogenicity
Select item 626191	NM_001365276.2(TNXB):c.861G>A (p.Arg287=)	TNXB	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +2 more	GConflicting classifications of pathogenicity
Select item 626037	NM_001365276.2(TNXB):c.3212C>G (p.Thr1071Arg)	TNXB (T1071R)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 more	GUncertain significance
Select item 626036	NM_001365276.2(TNXB):c.5416T>C (p.Phe1806Leu)	TNXB (F1806L)	Single nucleotide variant (missense variant)	Vesicoureteral reflux 8 +2 more	GUncertain significance
Select item 626035	NM_001365276.2(TNXB):c.6177C>G (p.His2059Gln)	TNXB (H2059Q)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +3 more	GUncertain significance
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 598089	NM_001365276.2(TNXB):c.8186A>G (p.Glu2729Gly)	TNXB (E2729G)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +3 more	GUncertain significance
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 430489	NM_001365276.2(TNXB):c.7417C>T (p.Arg2473Cys)	TNXB (R2473C)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +3 more	GBenign/Likely benign
Select item 426989	NM_001365276.2(TNXB):c.2030A>G (p.Asp677Gly)	TNXB (D677G)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +4 more	GConflicting classifications of pathogenicity
Select item 425370	NM_001365276.2(TNXB):c.8542G>C (p.Gly2848Arg)	TNXB (G2846R +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +3 more	GConflicting classifications of pathogenicity
Select item 289817	NM_001365276.2(TNXB):c.211G>T (p.Val71Leu)	TNXB (V71L)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome due to tenascin-X deficiency +3 more	GUncertain significance
Select item 261175	NM_001365276.2(TNXB):c.909C>G (p.Gly303=)	TNXB	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +5 more	GBenign/Likely benign

<< First< Prev

Page of 2