Related gene-specific medical variations for Gene (Select 7148) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3381004	NM_001365276.2(TNXB):c.11441_11530+30del	LOC106780803, TNXB	Deletion (splice donor variant)	not provided	GPathogenic
Select item 3379664	NM_001365276.2(TNXB):c.10624C>T (p.Pro3542Ser)	LOC106780803, TNXB (P3540S +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3379663	NM_001365276.2(TNXB):c.10856C>G (p.Pro3619Arg)	LOC106780803, TNXB (P3617R +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3379662	NM_001365276.2(TNXB):c.10970G>A (p.Arg3657His)	LOC106780803, TNXB (R3655H +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3379661	NM_001365276.2(TNXB):c.11171G>A (p.Arg3724His)	LOC106780803, TNXB (R153H +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3379660	NM_001365276.2(TNXB):c.11527A>G (p.Thr3843Ala)	LOC106780803, TNXB (T272A +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3379659	NM_001365276.2(TNXB):c.11831T>C (p.Val3944Ala)	LOC106780803, TNXB (V373A +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3379658	NM_001365276.2(TNXB):c.11925+6C>G	LOC106780803, TNXB	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 3379657	NM_001365276.2(TNXB):c.11930T>A (p.Ile3977Asn)	LOC106780803, TNXB (I3975N +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3379656	NM_001365276.2(TNXB):c.12062G>A (p.Gly4021Glu)	LOC106780803, TNXB (G4019E +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3379655	NM_001365276.2(TNXB):c.12379G>A (p.Glu4127Lys)	LOC106780803, TNXB (E4125K +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3379654	NM_001365276.2(TNXB):c.12560G>A (p.Arg4187Gln)	LOC106780803, TNXB (R4185Q +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3379653	NM_001365276.2(TNXB):c.12664G>A (p.Glu4222Lys)	CYP21A2, TNXB (E4220K +3 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 3379652	NM_001365276.2(TNXB):c.12716C>T (p.Ser4239Phe)	CYP21A2, TNXB (S4237F +3 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 3379651	NM_001365276.2(TNXB):c.12724G>A (p.Gly4242Arg)	CYP21A2, TNXB (G4240R +3 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 3376214	NM_001365276.2(TNXB):c.12683C>T (p.Thr4228Met)	CYP21A2, TNXB (T4226M +3 more)	Single nucleotide variant (3 prime UTR variant +1 more)	Vesicoureteral reflux 8	GUncertain significance
Select item 3362096	NM_001365276.2(TNXB):c.1238G>A (p.Arg413His)	TNXB (R413H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3361596	NM_001365276.2(TNXB):c.10499G>C (p.Arg3500Pro)	TNXB (R3498P +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3361458	NM_001365276.2(TNXB):c.4984A>C (p.Lys1662Gln)	TNXB (K1662Q +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3359564	NM_001365276.2(TNXB):c.6545C>T (p.Ala2182Val)	TNXB (A2182V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3327948	NM_001365276.2(TNXB):c.10672C>T (p.Arg3558Cys)	LOC106780803, TNXB (R3558C +1 more)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype	GUncertain significance
Select item 3327944	NM_001365276.2(TNXB):c.10813G>A (p.Asp3605Asn)	LOC106780803, TNXB (D34N +2 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GLikely benign
Select item 3327915	NM_001365276.2(TNXB):c.10292G>C (p.Arg3431Pro)	LOC126859654, TNXB (R3431P +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3327905	NM_001365276.2(TNXB):c.10303A>T (p.Ile3435Phe)	LOC126859654, TNXB (I3433F +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3257508	NM_001365276.2(TNXB):c.10616del (p.Glu3539fs)	LOC106780803, TNXB (E3537fs +1 more)	Deletion (frameshift variant +1 more)	not provided	GPathogenic
Select item 3180905	NM_001365276.2(TNXB):c.12715T>C (p.Ser4239Pro)	CYP21A2, TNXB (S4239P +2 more)	Single nucleotide variant (3 prime UTR variant +1 more)	Cardiovascular phenotype	GLikely benign
Select item 3180904	NM_001365276.2(TNXB):c.12611A>G (p.Tyr4204Cys)	LOC106780803, TNXB (Y4202C +3 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3180903	NM_001365276.2(TNXB):c.12604G>A (p.Gly4202Arg)	LOC106780803, TNXB (G4200R +3 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3180901	NM_001365276.2(TNXB):c.12109G>A (p.Gly4037Arg)	LOC106780803, TNXB (G4037R +3 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3180900	NM_001365276.2(TNXB):c.12091G>A (p.Gly4031Arg)	LOC106780803, TNXB (G4278R +3 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3180899	NM_001365276.2(TNXB):c.12056C>T (p.Thr4019Met)	LOC106780803, TNXB (T4266M +3 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3180898	NM_001365276.2(TNXB):c.11555G>A (p.Arg3852His)	LOC106780803, TNXB (R3852H +3 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 3180897	NM_001365276.2(TNXB):c.11512A>G (p.Thr3838Ala)	LOC106780803, TNXB (T267A +2 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3180896	NM_001365276.2(TNXB):c.11422C>T (p.Arg3808Trp)	LOC106780803, TNXB (R3808W +3 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3180894	NM_001365276.2(TNXB):c.11344C>T (p.Arg3782Trp)	LOC106780803, TNXB (R3782W +3 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3180893	NM_001365276.2(TNXB):c.10759G>A (p.Val3587Met)	LOC106780803, TNXB (V16M +3 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3057557	NM_001365276.2(TNXB):c.12259G>A (p.Glu4087Lys)	LOC106780803, TNXB (E4085K +2 more)	Single nucleotide variant (missense variant)	TNXB-related disorder	GUncertain significance
Select item 3037178	NM_001365276.2(TNXB):c.12356G>A (p.Arg4119His)	LOC106780803, TNXB (R4117H +2 more)	Single nucleotide variant (missense variant)	TNXB-related disorder	GUncertain significance
Select item 3028983	NM_001365276.2(TNXB):c.11845G>A (p.Ala3949Thr)	LOC106780803, TNXB (A378T +2 more)	Single nucleotide variant (missense variant)	TNXB-related disorder	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 2682925	NM_001365276.2(TNXB):c.11245G>A (p.Ala3749Thr)	LOC106780803, TNXB (A178T +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2682924	NM_001365276.2(TNXB):c.11610T>A (p.Asn3870Lys)	LOC106780803, TNXB (N299K +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2682923	NM_001365276.2(TNXB):c.12167del (p.Leu4056fs)	LOC106780803, TNXB (L4054fs +2 more)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 2682922	NM_001365276.2(TNXB):c.12731G>T (p.Gly4244Val)	CYP21A2, TNXB (G4242V +2 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 2682313	NM_001365276.2(TNXB):c.12155G>A (p.Arg4052His)	LOC106780803, TNXB (R4050H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2673050	NM_001365276.2(TNXB):c.10726T>C (p.Trp3576Arg)	LOC106780803, TNXB (W3574R +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2656442	NM_001365276.2(TNXB):c.10652C>T (p.Pro3551Leu)	LOC106780803, TNXB (P3549L +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2656441	NM_001365276.2(TNXB):c.10902G>A (p.Gly3634=)	LOC106780803, TNXB	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 2656440	NM_001365276.2(TNXB):c.11358C>T (p.Phe3786=)	LOC106780803, TNXB	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2656439	NM_001365276.2(TNXB):c.12540C>T (p.Ile4180=)	LOC106780803, TNXB	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2635849	NM_001365276.2(TNXB):c.12112G>T (p.Ala4038Ser)	LOC106780803, TNXB (A4036S +2 more)	Single nucleotide variant (missense variant)	TNXB-related disorder	GUncertain significance
Select item 2632002	NM_001365276.2(TNXB):c.12437G>A (p.Arg4146His)	LOC106780803, TNXB (R4144H +2 more)	Single nucleotide variant (missense variant)	TNXB-related disorder	GUncertain significance
Select item 2606836	NM_001365276.2(TNXB):c.10663G>A (p.Glu3555Lys)	LOC106780803, TNXB (E3553K +1 more)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype	GUncertain significance
Select item 2594698	NM_001365276.2(TNXB):c.11572G>A (p.Glu3858Lys)	LOC106780803, TNXB (E3856K +2 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	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 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 2576129	NM_001365276.2(TNXB):c.2692C>G (p.Leu898Val)	TNXB (L898V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2574993	NM_001365276.2(TNXB):c.10895G>A (p.Arg3632His)	LOC106780803, TNXB (R3630H +2 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 2573595	NM_001365276.2(TNXB):c.11925+2T>A	LOC106780803, TNXB	Single nucleotide variant (splice donor variant)	Ehlers-Danlos syndrome due to tenascin-X deficiency	GLikely pathogenic
Select item 2570376	NM_001365276.2(TNXB):c.11455G>A (p.Ala3819Thr)	LOC106780803, TNXB (A3819T +2 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 2554459	NM_001365276.2(TNXB):c.11459G>C (p.Arg3820Pro)	LOC106780803, TNXB (R249P +2 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 2509562	NM_001365276.2(TNXB):c.11323A>C (p.Asn3775His)	LOC106780803, TNXB (N3775H +2 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 2508939	NM_001365276.2(TNXB):c.12200G>A (p.Gly4067Asp)	LOC106780803, TNXB (G4067D +2 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 2500716	NM_001365276.1:c.(?_8144)_(9109_?)del	TNXB	Deletion	Ehlers-Danlos syndrome due to tenascin-X deficiency	GUncertain significance
Select item 2499001	NM_001365276.2(TNXB):c.10832T>C (p.Ile3611Thr)	LOC106780803, TNXB (I3609T +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2464688	NM_001365276.2(TNXB):c.10718G>A (p.Arg3573His)	LOC106780803, TNXB (R3571H +2 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 2459565	NM_001365276.2(TNXB):c.10654G>A (p.Glu3552Lys)	LOC106780803, TNXB (E3550K +1 more)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype	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 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 +1 more	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 +2 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 2406894	NM_001365276.2(TNXB):c.10810G>A (p.Gly3604Ser)	LOC106780803, TNXB (G33S +2 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 2397794	NM_001365276.2(TNXB):c.12725G>C (p.Gly4242Ala)	CYP21A2, TNXB (G4240A +2 more)	Single nucleotide variant (3 prime UTR variant +1 more)	Cardiovascular phenotype	GUncertain significance
Select item 2397775	NM_001365276.2(TNXB):c.11345G>A (p.Arg3782Gln)	LOC106780803, TNXB (R211Q +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2392599	NM_001365276.2(TNXB):c.12161G>A (p.Arg4054Gln)	LOC106780803, TNXB (R4054Q +2 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 2383417	NM_001365276.2(TNXB):c.12728G>T (p.Gly4243Val)	CYP21A2, TNXB (G4243V +2 more)	Single nucleotide variant (3 prime UTR variant +1 more)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 2351257	NM_001365276.2(TNXB):c.12224G>T (p.Arg4075Leu)	LOC106780803, TNXB (R4073L +2 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 2331275	NM_001365276.2(TNXB):c.11554C>T (p.Arg3852Cys)	LOC106780803, TNXB (R281C +2 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 2251756	NM_001365276.2(TNXB):c.12179G>A (p.Cys4060Tyr)	LOC106780803, TNXB (C489Y +2 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 2239424	NM_001365276.2(TNXB):c.10880T>C (p.Leu3627Pro)	LOC106780803, TNXB (L56P +2 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 2237714	NM_001365276.2(TNXB):c.12091G>C (p.Gly4031Arg)	LOC106780803, TNXB (G4029R +2 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 2220627	NM_001365276.2(TNXB):c.11486G>A (p.Arg3829Gln)	LOC106780803, TNXB (R258Q +2 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 2136016	NM_001365276.2(TNXB):c.12712C>T (p.Arg4238Cys)	CYP21A2, TNXB (R4236C +2 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 1770042	NM_001365276.2(TNXB):c.10292G>A (p.Arg3431Gln)	LOC126859654, TNXB (R3431Q +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 1722769	NM_001365276.2(TNXB):c.12544T>A (p.Cys4182Ser)	LOC106780803, TNXB (C4180S +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1711621	NM_001365276.2(TNXB):c.12603C>T (p.Asn4201=)	LOC106780803, TNXB	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1709403	NM_001365276.2(TNXB):c.12161G>C (p.Arg4054Pro)	LOC106780803, TNXB (R4052P +2 more)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome due to tenascin-X deficiency	GUncertain significance
Select item 1702306	NM_001365276.2(TNXB):c.12168G>C (p.Leu4056=)	LOC106780803, TNXB	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1702305	NM_001365276.2(TNXB):c.12167T>C (p.Leu4056Pro)	LOC106780803, TNXB (L4054P +2 more)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome	GUncertain significance
Select item 1702304	NM_001365276.2(TNXB):c.11581G>A (p.Ala3861Thr)	LOC106780803, TNXB (A290T +2 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1702303	NM_001365276.2(TNXB):c.11421C>T (p.Ala3807=)	LOC106780803, TNXB	Single nucleotide variant (synonymous variant)	Ehlers-Danlos syndrome	GUncertain significance
Select item 1702302	NM_001365276.2(TNXB):c.11387-10A>G	LOC106780803, TNXB	Single nucleotide variant (intron variant)	Ehlers-Danlos syndrome	GUncertain significance

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