ClinVar for MedGen (Select 336244) - ClinVar - NCBI

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VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 25735951.	NM_001365276.2(TNXB):c.11925+2T>A GRCh37: Chr6:32010726 GRCh38: Chr6:32042949	LOC106780803, TNXB		Ehlers-Danlos syndrome due to tenascin-X deficiency	Likely pathogenic (Jun 6, 2023)	criteria provided, single submitter
Select item 25007172.	NM_001365276.2(TNXB):c.5336G>A (p.Gly1779Glu) GRCh37: Chr6:32037581 GRCh38: Chr6:32069804	TNXB	G1779E	Ehlers-Danlos syndrome due to tenascin-X deficiency	Uncertain significance (May 7, 2021)	criteria provided, single submitter
Select item 25007163.	NM_001365276.1:c.(?_8144)_(9109_?)del	TNXB		Ehlers-Danlos syndrome due to tenascin-X deficiency	Uncertain significance	criteria provided, single submitter
Select item 25001024.	NM_001365276.2(TNXB):c.5981C>T (p.Thr1994Ile) GRCh37: Chr6:32036406 GRCh38: Chr6:32068629	TNXB	T1994I	Ehlers-Danlos syndrome due to tenascin-X deficiency, Vesicoureteral reflux 8	Uncertain significance (Mar 30, 2021)	criteria provided, single submitter
Select item 24127985.	NM_001365276.2(TNXB):c.5645C>T (p.Pro1882Leu) GRCh37: Chr6:32036856 GRCh38: Chr6:32069079	TNXB	P1882L	Vesicoureteral reflux 8, Ehlers-Danlos syndrome due to tenascin-X deficiency	not provided	no assertion provided
Select item 18050116.	NM_001365276.2(TNXB):c.3763dup (p.Arg1255fs) GRCh37: Chr6:32049423-32049424 GRCh38: Chr6:32081646-32081647	TNXB	R1255fs	Vesicoureteral reflux 8, Ehlers-Danlos syndrome due to tenascin-X deficiency	Pathogenic/Likely pathogenic (May 31, 2022)	criteria provided, multiple submitters, no conflicts
Select item 17111887.	NM_001365276.2(TNXB):c.31A>T (p.Ser11Cys) GRCh37: Chr6:32065945 GRCh38: Chr6:32098168	TNXB	S11C	Ehlers-Danlos syndrome due to tenascin-X deficiency	Likely pathogenic (Jun 30, 2022)	no assertion criteria provided
Select item 17111878.	NM_001365276.2(TNXB):c.4111G>A (p.Glu1371Lys) GRCh37: Chr6:32047074 GRCh38: Chr6:32079297	TNXB	E1371K	Inborn genetic diseases	Uncertain significance (Jul 26, 2022)	criteria provided, single submitter
Select item 17094059.	NM_001365276.2(TNXB):c.4220A>G (p.Lys1407Arg) GRCh37: Chr6:32046965 GRCh38: Chr6:32079188	TNXB	K1407R	Ehlers-Danlos syndrome due to tenascin-X deficiency	Uncertain significance (Aug 1, 2022)	criteria provided, single submitter
Select item 170940310.	NM_001365276.2(TNXB):c.12161G>C (p.Arg4054Pro) GRCh37: Chr6:32010281 GRCh38: Chr6:32042504	LOC106780803, TNXB	R4052P, R4054P, R483P	Ehlers-Danlos syndrome due to tenascin-X deficiency	Uncertain significance (Aug 1, 2022)	criteria provided, single submitter
Select item 170939011.	NM_001365276.2(TNXB):c.1785C>G (p.Ser595Arg) GRCh37: Chr6:32063845 GRCh38: Chr6:32096068	TNXB	S595R	Ehlers-Danlos syndrome due to tenascin-X deficiency	Uncertain significance (Apr 12, 2022)	criteria provided, single submitter
Select item 170921712.	NM_001365276.2(TNXB):c.4168C>G (p.Leu1390Val) GRCh37: Chr6:32047017 GRCh38: Chr6:32079240	TNXB	L1390V	Ehlers-Danlos syndrome due to tenascin-X deficiency	Uncertain significance (Feb 21, 2022)	criteria provided, single submitter
Select item 170915513.	NM_001365276.2(TNXB):c.2301_2309del (p.Glu768_Thr770del) GRCh37: Chr6:32062902-32062910 GRCh38: Chr6:32095125-32095133	TNXB		Ehlers-Danlos syndrome due to tenascin-X deficiency	Uncertain significance (Feb 15, 2022)	criteria provided, single submitter
Select item 170915414.	NM_001365276.2(TNXB):c.1806C>A (p.Asp602Glu) GRCh37: Chr6:32063824 GRCh38: Chr6:32096047	TNXB	D602E	Ehlers-Danlos syndrome due to tenascin-X deficiency	Uncertain significance (Feb 15, 2022)	criteria provided, single submitter
Select item 170904415.	NM_001365276.2(TNXB):c.9664G>C (p.Gly3222Arg) GRCh37: Chr6:32017140 GRCh38: Chr6:32049363	TNXB	G3220R, G3222R	Cardiovascular phenotype, Ehlers-Danlos syndrome due to tenascin-X deficiency	Conflicting interpretations of pathogenicity (Nov 7, 2022)	criteria provided, conflicting interpretations
Select item 170897016.	NM_001365276.2(TNXB):c.2521G>A (p.Asp841Asn) GRCh37: Chr6:32056820 GRCh38: Chr6:32089043	TNXB	D841N	Ehlers-Danlos syndrome due to tenascin-X deficiency	Uncertain significance (Oct 29, 2021)	criteria provided, single submitter
Select item 170348717.	NM_001365276.2(TNXB):c.4883G>A (p.Arg1628Gln) GRCh37: Chr6:32039874 GRCh38: Chr6:32072097	TNXB	R1628Q	not provided, Ehlers-Danlos syndrome due to tenascin-X deficiency, Cardiovascular phenotype	Uncertain significance (May 23, 2023)	criteria provided, multiple submitters, no conflicts
Select item 167601418.	NM_001365276.2(TNXB):c.12058+6T>G GRCh37: Chr6:32010470 GRCh38: Chr6:32042693	LOC106780803, TNXB		not provided, Vesicoureteral reflux 8, Ehlers-Danlos syndrome due to tenascin-X deficiency	Likely benign (Apr 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 167514319.	NM_001365276.2(TNXB):c.2703C>T (p.Gly901=) GRCh37: Chr6:32056638 GRCh38: Chr6:32088861	TNXB		Cardiovascular phenotype, Vesicoureteral reflux 8, Ehlers-Danlos syndrome due to tenascin-X deficiency	Uncertain significance (Dec 21, 2021)	criteria provided, multiple submitters, no conflicts
Select item 167514220.	NM_001365276.2(TNXB):c.2296C>T (p.Arg766Trp) GRCh37: Chr6:32062915 GRCh38: Chr6:32095138	TNXB	R766W	Vesicoureteral reflux 8, Ehlers-Danlos syndrome due to tenascin-X deficiency	Uncertain significance (Feb 4, 2022)	criteria provided, single submitter
Select item 167514121.	NM_001365276.2(TNXB):c.7819G>A (p.Val2607Ile) GRCh37: Chr6:32025841 GRCh38: Chr6:32058064	TNXB	V2607I	Vesicoureteral reflux 8, Ehlers-Danlos syndrome due to tenascin-X deficiency	Uncertain significance (Feb 8, 2022)	criteria provided, single submitter
Select item 167514022.	NM_001365276.2(TNXB):c.5723T>A (p.Phe1908Tyr) GRCh37: Chr6:32036778 GRCh38: Chr6:32069001	TNXB	F1908Y	Cardiovascular phenotype, Vesicoureteral reflux 8, Ehlers-Danlos syndrome due to tenascin-X deficiency	Uncertain significance (Jun 19, 2022)	criteria provided, multiple submitters, no conflicts
Select item 167513923.	NM_001365276.2(TNXB):c.5902+9T>C GRCh37: Chr6:32036590 GRCh38: Chr6:32068813	TNXB		Vesicoureteral reflux 8, Ehlers-Danlos syndrome due to tenascin-X deficiency	Uncertain significance (Mar 30, 2021)	criteria provided, single submitter
Select item 133978224.	NM_001365276.2(TNXB):c.7338G>C (p.Lys2446Asn) GRCh37: Chr6:32029328 GRCh38: Chr6:32061551	TNXB	K2446N	Ehlers-Danlos syndrome due to tenascin-X deficiency	not provided	no assertion provided
Select item 133372825.	NM_001365276.2(TNXB):c.1739A>G (p.Tyr580Cys) GRCh37: Chr6:32063891 GRCh38: Chr6:32096114	TNXB	Y580C	Cardiovascular phenotype, Ehlers-Danlos syndrome due to tenascin-X deficiency, Vesicoureteral reflux 8	Uncertain significance (Oct 11, 2021)	criteria provided, multiple submitters, no conflicts
Select item 132896726.	NM_001365276.2(TNXB):c.12525dup (p.Asn4176fs) GRCh37: Chr6:32009655-32009656 GRCh38: Chr6:32041878-32041879	LOC106780803, TNXB	N4174fs, N4176fs, N605fs	Ehlers-Danlos syndrome due to tenascin-X deficiency	Uncertain significance (Dec 23, 2021)	criteria provided, single submitter
Select item 132671127.	NM_001365276.2(TNXB):c.6833G>T (p.Gly2278Val) GRCh37: Chr6:32032606 GRCh38: Chr6:32064829	TNXB	G2278V	Cardiovascular phenotype, Vesicoureteral reflux 8, Ehlers-Danlos syndrome due to tenascin-X deficiency, not provided	Uncertain significance (Apr 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 132521228.	NM_001365276.2(TNXB):c.8473G>A (p.Glu2825Lys) GRCh37: Chr6:32021483 GRCh38: Chr6:32053706	TNXB	E2825K	Ehlers-Danlos syndrome due to tenascin-X deficiency, Vesicoureteral reflux 8	Likely pathogenic (Feb 22, 2021)	criteria provided, multiple submitters, no conflicts
Select item 132064829.	NM_001365276.2(TNXB):c.209A>G (p.Gln70Arg) GRCh37: Chr6:32065767 GRCh38: Chr6:32097990	TNXB	Q70R	Cardiovascular phenotype, Ehlers-Danlos syndrome, Vesicoureteral reflux 8, Ehlers-Danlos syndrome due to tenascin-X deficiency, not provided	Uncertain significance (Dec 2, 2022)	criteria provided, multiple submitters, no conflicts
Select item 131440730.	NM_001365276.2(TNXB):c.496A>C (p.Thr166Pro) GRCh37: Chr6:32065134 GRCh38: Chr6:32097357	TNXB	T166P	not provided	Uncertain significance (Jan 20, 2022)	criteria provided, single submitter
Select item 130428331.	NM_001365276.2(TNXB):c.7783G>A (p.Glu2595Lys) GRCh37: Chr6:32025877 GRCh38: Chr6:32058100	TNXB	E2595K	Vesicoureteral reflux 8, Ehlers-Danlos syndrome due to tenascin-X deficiency, Cardiovascular phenotype, not provided	Uncertain significance (Nov 15, 2021)	criteria provided, multiple submitters, no conflicts
Select item 130198732.	NM_001365276.2(TNXB):c.7168+1G>T GRCh37: Chr6:32029933 GRCh38: Chr6:32062156	TNXB		Cardiovascular phenotype, Ehlers-Danlos syndrome due to tenascin-X deficiency	Conflicting interpretations of pathogenicity (Apr 1, 2020)	criteria provided, conflicting interpretations
Select item 130175733.	NM_001365276.2(TNXB):c.7459C>T (p.Arg2487Cys) GRCh37: Chr6:32029207 GRCh38: Chr6:32061430	TNXB	R2487C	not provided, Cardiovascular phenotype, Ehlers-Danlos syndrome due to tenascin-X deficiency	Uncertain significance (Dec 17, 2022)	criteria provided, multiple submitters, no conflicts
Select item 129902734.	NM_001365276.2(TNXB):c.1263_1448del (p.Thr428_Gly489del) GRCh37: Chr6:32064182-32064367 GRCh38: Chr6:32096405-32096590	TNXB		Cardiovascular phenotype, not provided	Uncertain significance (Dec 8, 2021)	criteria provided, multiple submitters, no conflicts
Select item 128553735.	NM_001365276.2(TNXB):c.8389G>T (p.Gly2797Trp) GRCh37: Chr6:32023706 GRCh38: Chr6:32055929	TNXB	G2797W	Ehlers-Danlos syndrome due to tenascin-X deficiency	Uncertain significance (Feb 22, 2021)	criteria provided, single submitter
Select item 125856836.	NM_001365276.2(TNXB):c.4484C>T (p.Thr1495Ile) GRCh37: Chr6:32041621 GRCh38: Chr6:32073844	TNXB	T1495I	Cardiovascular phenotype, Ehlers-Danlos syndrome, Ehlers-Danlos syndrome due to tenascin-X deficiency, Vesicoureteral reflux 8, not provided	Benign/Likely benign (Jul 22, 2021)	criteria provided, multiple submitters, no conflicts
Select item 125470337.	NM_001365276.2(TNXB):c.7750C>T (p.Arg2584Cys) GRCh37: Chr6:32025910 GRCh38: Chr6:32058133	TNXB	R2584C	Vesicoureteral reflux 8, Ehlers-Danlos syndrome due to tenascin-X deficiency, Cardiovascular phenotype, not provided, Ehlers-Danlos syndrome	Conflicting interpretations of pathogenicity (Mar 30, 2023)	criteria provided, conflicting interpretations
Select item 125369138.	NM_001365276.2(TNXB):c.7946C>T (p.Thr2649Met) GRCh37: Chr6:32024560 GRCh38: Chr6:32056783	TNXB	T2649M	Cardiovascular phenotype, not provided, Ehlers-Danlos syndrome due to tenascin-X deficiency, Vesicoureteral reflux 8	Uncertain significance (Jul 25, 2022)	criteria provided, multiple submitters, no conflicts
Select item 125169739.	NM_001365276.2(TNXB):c.2516-17_2516-15del GRCh37: Chr6:32056840-32056842 GRCh38: Chr6:32089063-32089065	TNXB		Ehlers-Danlos syndrome due to tenascin-X deficiency, Vesicoureteral reflux 8, not provided	Benign (Nov 29, 2021)	criteria provided, multiple submitters, no conflicts
Select item 123597240.	NM_001365276.2(TNXB):c.*163G>A GRCh37: Chr6:32008963 GRCh38: Chr6:32041186	CYP21A2, TNXB		Ehlers-Danlos syndrome due to tenascin-X deficiency, Vesicoureteral reflux 8, not provided	Benign (Aug 9, 2021)	criteria provided, multiple submitters, no conflicts
Select item 122683141.	NM_001365276.2(TNXB):c.5442C>G (p.Asp1814Glu) GRCh37: Chr6:32037475 GRCh38: Chr6:32069698	TNXB	D1814E	Cardiovascular phenotype, Ehlers-Danlos syndrome, not provided, Ehlers-Danlos syndrome due to tenascin-X deficiency, Vesicoureteral reflux 8	Benign/Likely benign (Aug 27, 2021)	criteria provided, multiple submitters, no conflicts
Select item 122047242.	NM_001365276.2(TNXB):c.6303A>G (p.Leu2101=) GRCh37: Chr6:32035679 GRCh38: Chr6:32067902	TNXB		Cardiovascular phenotype, Ehlers-Danlos syndrome, not provided, Ehlers-Danlos syndrome due to tenascin-X deficiency, Vesicoureteral reflux 8	Conflicting interpretations of pathogenicity (Mar 8, 2022)	criteria provided, conflicting interpretations
Select item 121775543.	NM_001365276.2(TNXB):c.6211G>A (p.Gly2071Arg) GRCh37: Chr6:32036176 GRCh38: Chr6:32068399	TNXB	G2071R	Cardiovascular phenotype, Ehlers-Danlos syndrome, not provided, Ehlers-Danlos syndrome due to tenascin-X deficiency, Vesicoureteral reflux 8	Uncertain significance (Jul 6, 2023)	criteria provided, multiple submitters, no conflicts
Select item 121670844.	NM_001365276.2(TNXB):c.3761C>G (p.Pro1254Arg) GRCh37: Chr6:32049426 GRCh38: Chr6:32081649	TNXB	P1254R	Cardiovascular phenotype, Ehlers-Danlos syndrome, not provided, Ehlers-Danlos syndrome due to tenascin-X deficiency, Vesicoureteral reflux 8	Uncertain significance (Nov 11, 2022)	criteria provided, multiple submitters, no conflicts
Select item 121580445.	NM_001365276.2(TNXB):c.113G>A (p.Arg38Gln) GRCh37: Chr6:32065863 GRCh38: Chr6:32098086	TNXB	R38Q	Ehlers-Danlos syndrome, Ehlers-Danlos syndrome due to tenascin-X deficiency, Vesicoureteral reflux 8, Cardiovascular phenotype, not provided	Benign/Likely benign (Sep 13, 2023)	criteria provided, multiple submitters, no conflicts
Select item 121520846.	NM_001365276.2(TNXB):c.3226G>A (p.Asp1076Asn) GRCh37: Chr6:32052409 GRCh38: Chr6:32084632	TNXB	D1076N	Cardiovascular phenotype, Vesicoureteral reflux 8, Ehlers-Danlos syndrome, not provided, Ehlers-Danlos syndrome due to tenascin-X deficiency, Vesicoureteral reflux 8	Conflicting interpretations of pathogenicity (Jul 14, 2023)	criteria provided, conflicting interpretations
Select item 121471347.	NM_001365276.2(TNXB):c.9458C>G (p.Pro3153Arg) GRCh37: Chr6:32017346 GRCh38: Chr6:32049569	TNXB	P3151R, P3153R	Cardiovascular phenotype, Ehlers-Danlos syndrome due to tenascin-X deficiency, Vesicoureteral reflux 8, not provided	Uncertain significance (Nov 25, 2022)	criteria provided, multiple submitters, no conflicts
Select item 121338848.	NM_001365276.2(TNXB):c.2783C>A (p.Ser928Tyr) GRCh37: Chr6:32053892 GRCh38: Chr6:32086115	TNXB	S928Y	Cardiovascular phenotype, Vesicoureteral reflux 8, Ehlers-Danlos syndrome, Ehlers-Danlos syndrome due to tenascin-X deficiency, Vesicoureteral reflux 8, not provided	Uncertain significance (Jun 13, 2023)	criteria provided, multiple submitters, no conflicts
Select item 121175949.	NM_001365276.2(TNXB):c.8468-1G>A GRCh37: Chr6:32021489 GRCh38: Chr6:32053712	TNXB		Ehlers-Danlos syndrome, not provided, Vesicoureteral reflux 8, Ehlers-Danlos syndrome due to tenascin-X deficiency	Conflicting interpretations of pathogenicity (Oct 23, 2021)	criteria provided, conflicting interpretations
Select item 121148250.	NM_001365276.2(TNXB):c.5491G>A (p.Val1831Met) GRCh37: Chr6:32037426 GRCh38: Chr6:32069649	TNXB	V1831M	not provided, Cardiovascular phenotype	Uncertain significance (Feb 16, 2023)	criteria provided, multiple submitters, no conflicts
Select item 121147351.	NM_001365276.2(TNXB):c.2385A>G (p.Thr795=) GRCh37: Chr6:32057130 GRCh38: Chr6:32089353	TNXB		Vesicoureteral reflux 8, Ehlers-Danlos syndrome due to tenascin-X deficiency, Cardiovascular phenotype, not provided	Likely benign (Jan 28, 2022)	criteria provided, multiple submitters, no conflicts
Select item 121001552.	NM_001365276.2(TNXB):c.12210+5G>A GRCh37: Chr6:32010227 GRCh38: Chr6:32042450	LOC106780803, TNXB		Vesicoureteral reflux 8, Ehlers-Danlos syndrome due to tenascin-X deficiency, not provided	Likely benign (Sep 1, 2021)	criteria provided, multiple submitters, no conflicts
Select item 120740953.	NM_001365276.2(TNXB):c.7051G>A (p.Gly2351Arg) GRCh37: Chr6:32030051 GRCh38: Chr6:32062274	TNXB	G2351R	not provided, Vesicoureteral reflux 8, Ehlers-Danlos syndrome due to tenascin-X deficiency, Cardiovascular phenotype	Benign/Likely benign (May 11, 2022)	criteria provided, multiple submitters, no conflicts
Select item 120703754.	NM_001365276.2(TNXB):c.4010G>A (p.Arg1337His) GRCh37: Chr6:32049177 GRCh38: Chr6:32081400	TNXB	R1337H	Ehlers-Danlos syndrome, not provided, Vesicoureteral reflux 8, Ehlers-Danlos syndrome due to tenascin-X deficiency, Cardiovascular phenotype	Uncertain significance (Jun 1, 2023)	criteria provided, multiple submitters, no conflicts
Select item 120642655.	NM_001365276.2(TNXB):c.1496G>A (p.Gly499Asp) GRCh37: Chr6:32064134 GRCh38: Chr6:32096357	TNXB	G499D	Vesicoureteral reflux 8, Ehlers-Danlos syndrome due to tenascin-X deficiency, not provided, Cardiovascular phenotype	Uncertain significance (Jul 26, 2022)	criteria provided, multiple submitters, no conflicts
Select item 120506356.	NM_001365276.2(TNXB):c.9762C>T (p.Pro3254=) GRCh37: Chr6:32016423 GRCh38: Chr6:32048646	TNXB		Vesicoureteral reflux 8, Ehlers-Danlos syndrome due to tenascin-X deficiency, Ehlers-Danlos syndrome, Cardiovascular phenotype, not provided	Benign/Likely benign (Mar 17, 2022)	criteria provided, multiple submitters, no conflicts
Select item 120406257.	NM_001365276.2(TNXB):c.9580G>A (p.Asp3194Asn) GRCh37: Chr6:32017224 GRCh38: Chr6:32049447	TNXB	D3192N, D3194N	Vesicoureteral reflux 8, Ehlers-Danlos syndrome due to tenascin-X deficiency, Cardiovascular phenotype, not provided	Uncertain significance (Aug 8, 2023)	criteria provided, multiple submitters, no conflicts
Select item 120153558.	NM_001365276.2(TNXB):c.86G>A (p.Arg29Gln) GRCh37: Chr6:32065890 GRCh38: Chr6:32098113	TNXB	R29Q	Vesicoureteral reflux 8, Ehlers-Danlos syndrome due to tenascin-X deficiency, Ehlers-Danlos syndrome, not provided, Cardiovascular phenotype	Benign/Likely benign (Mar 17, 2022)	criteria provided, multiple submitters, no conflicts
Select item 120128659.	NM_001365276.2(TNXB):c.1480A>T (p.Thr494Ser) GRCh37: Chr6:32064150 GRCh38: Chr6:32096373	TNXB	T494S	Cardiovascular phenotype, not provided	Uncertain significance (May 15, 2023)	criteria provided, multiple submitters, no conflicts
Select item 119730360.	NM_001365276.2(TNXB):c.7802C>T (p.Pro2601Leu) GRCh37: Chr6:32025858 GRCh38: Chr6:32058081	TNXB	P2601L	Vesicoureteral reflux 8, Ehlers-Danlos syndrome due to tenascin-X deficiency, not provided, Cardiovascular phenotype	Conflicting interpretations of pathogenicity (May 6, 2022)	criteria provided, conflicting interpretations
Select item 119684861.	NM_001365276.2(TNXB):c.6805C>T (p.Gln2269Ter) GRCh37: Chr6:32032634 GRCh38: Chr6:32064857	TNXB	Q2269*	not provided	Likely pathogenic (Oct 14, 2022)	criteria provided, single submitter
Select item 119370862.	NM_001365276.2(TNXB):c.12592G>A (p.Ala4198Thr) GRCh37: Chr6:32009589 GRCh38: Chr6:32041812	LOC106780803, TNXB	A4196T, A4198T, A627T	not provided, Vesicoureteral reflux 8, Ehlers-Danlos syndrome due to tenascin-X deficiency	Likely benign (Apr 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 119103263.	NM_001365276.2(TNXB):c.2083C>T (p.Arg695Trp) GRCh37: Chr6:32063547 GRCh38: Chr6:32095770	TNXB	R695W	Vesicoureteral reflux 8, Ehlers-Danlos syndrome due to tenascin-X deficiency, Inborn genetic diseases, not provided	Uncertain significance (Sep 13, 2022)	criteria provided, multiple submitters, no conflicts
Select item 118956764.	NM_001365276.2(TNXB):c.7413T>C (p.Pro2471=) GRCh37: Chr6:32029253 GRCh38: Chr6:32061476	TNXB		Vesicoureteral reflux 8, Ehlers-Danlos syndrome due to tenascin-X deficiency, Cardiovascular phenotype, not provided	Benign/Likely benign (Dec 30, 2021)	criteria provided, multiple submitters, no conflicts
Select item 118875865.	NM_001365276.2(TNXB):c.7704T>C (p.Val2568=) GRCh37: Chr6:32025956 GRCh38: Chr6:32058179	TNXB		Vesicoureteral reflux 8, Ehlers-Danlos syndrome due to tenascin-X deficiency, not provided, Cardiovascular phenotype	Benign/Likely benign (Sep 1, 2021)	criteria provided, multiple submitters, no conflicts
Select item 118874166.	NM_001365276.2(TNXB):c.8631G>C (p.Gln2877His) GRCh37: Chr6:32021325 GRCh38: Chr6:32053548	TNXB	Q2875H, Q2877H	not provided, Cardiovascular phenotype, Vesicoureteral reflux 8, Ehlers-Danlos syndrome due to tenascin-X deficiency	Uncertain significance (Aug 25, 2021)	criteria provided, multiple submitters, no conflicts
Select item 117937267.	NM_001365276.2(TNXB):c.12058+15G>A GRCh37: Chr6:32010461 GRCh38: Chr6:32042684	LOC106780803, TNXB		Vesicoureteral reflux 8, Ehlers-Danlos syndrome due to tenascin-X deficiency, not provided	Likely benign (May 13, 2022)	criteria provided, multiple submitters, no conflicts
Select item 117859568.	NM_001365276.2(TNXB):c.6024A>G (p.Thr2008=) GRCh37: Chr6:32036363 GRCh38: Chr6:32068586	TNXB		Cardiovascular phenotype, not provided, Vesicoureteral reflux 8, Ehlers-Danlos syndrome due to tenascin-X deficiency	Benign/Likely benign (Sep 1, 2021)	criteria provided, multiple submitters, no conflicts
Select item 117619769.	NM_001365276.2(TNXB):c.2811C>A (p.Thr937=) GRCh37: Chr6:32053864 GRCh38: Chr6:32086087	TNXB		Vesicoureteral reflux 8, Ehlers-Danlos syndrome due to tenascin-X deficiency, Ehlers-Danlos syndrome, Cardiovascular phenotype, not provided	Conflicting interpretations of pathogenicity (Jun 27, 2022)	criteria provided, conflicting interpretations
Select item 105075870.	NM_001365276.2(TNXB):c.3034G>A (p.Val1012Ile) GRCh37: Chr6:32053641 GRCh38: Chr6:32085864	TNXB	V1012I	Ehlers-Danlos syndrome due to tenascin-X deficiency, Vesicoureteral reflux 8, not provided, Cardiovascular phenotype, Ehlers-Danlos syndrome	Conflicting interpretations of pathogenicity (Feb 23, 2023)	criteria provided, conflicting interpretations
Select item 104856071.	NM_001365276.2(TNXB):c.2747T>C (p.Val916Ala) GRCh37: Chr6:32056594 GRCh38: Chr6:32088817	TNXB	V916A	Ehlers-Danlos syndrome due to tenascin-X deficiency	Uncertain significance (Dec 13, 2018)	criteria provided, single submitter
Select item 103282272.	NM_001365276.2(TNXB):c.9072C>A (p.His3024Gln) GRCh37: Chr6:32020490 GRCh38: Chr6:32052713	TNXB	H3022Q, H3024Q	Ehlers-Danlos syndrome due to tenascin-X deficiency	Uncertain significance (Aug 1, 2018)	criteria provided, single submitter
Select item 103282073.	NM_001365276.2(TNXB):c.788G>A (p.Arg263His) GRCh37: Chr6:32064842 GRCh38: Chr6:32097065	TNXB	R263H	not provided, Cardiovascular phenotype, Ehlers-Danlos syndrome due to tenascin-X deficiency	Uncertain significance (Feb 10, 2022)	criteria provided, multiple submitters, no conflicts
Select item 103281874.	NM_001365276.2(TNXB):c.5869C>T (p.His1957Tyr) GRCh37: Chr6:32036632 GRCh38: Chr6:32068855	TNXB	H1957Y	Ehlers-Danlos syndrome due to tenascin-X deficiency	Uncertain significance (Jun 29, 2018)	criteria provided, single submitter
Select item 103281675.	NM_001365276.2(TNXB):c.4861G>A (p.Val1621Met) GRCh37: Chr6:32039896 GRCh38: Chr6:32072119	TNXB	V1621M	not provided, Cardiovascular phenotype, Ehlers-Danlos syndrome due to tenascin-X deficiency	Uncertain significance (Apr 25, 2023)	criteria provided, multiple submitters, no conflicts
Select item 99610476.	NM_001365276.2(TNXB):c.5362del (p.Thr1788fs) GRCh37: Chr6:32037555 GRCh38: Chr6:32069778	TNXB	T1788fs	Ehlers-Danlos syndrome due to tenascin-X deficiency	Pathogenic	criteria provided, single submitter
Select item 99250577.	NM_001365276.2(TNXB):c.562C>T (p.Pro188Ser) GRCh37: Chr6:32065068 GRCh38: Chr6:32097291	TNXB	P188S	Ehlers-Danlos syndrome due to tenascin-X deficiency, Vesicoureteral reflux 8, Cardiovascular phenotype	Uncertain significance (Oct 11, 2022)	criteria provided, multiple submitters, no conflicts
Select item 99250478.	NM_001365276.2(TNXB):c.287T>A (p.Leu96His) GRCh37: Chr6:32065689 GRCh38: Chr6:32097912	TNXB	L96H	Ehlers-Danlos syndrome due to tenascin-X deficiency, Vesicoureteral reflux 8	Uncertain significance (Mar 30, 2021)	criteria provided, single submitter
Select item 98928279.	NM_001365276.2(TNXB):c.6320C>G (p.Ser2107Cys) GRCh37: Chr6:32035662 GRCh38: Chr6:32067885	TNXB	S2107C	Ehlers-Danlos syndrome due to tenascin-X deficiency	Uncertain significance (Feb 4, 2019)	criteria provided, single submitter
Select item 98928180.	NM_001365276.2(TNXB):c.7546G>A (p.Ala2516Thr) GRCh37: Chr6:32026114 GRCh38: Chr6:32058337	TNXB	A2516T	Cardiovascular phenotype, Ehlers-Danlos syndrome due to tenascin-X deficiency	Uncertain significance (Apr 3, 2023)	criteria provided, multiple submitters, no conflicts
Select item 98924381.	NM_001365276.2(TNXB):c.11227G>A (p.Asp3743Asn) GRCh37: Chr6:32012194 GRCh38: Chr6:32044417	LOC106780803, TNXB	D172N, D3741N, D3743N	Ehlers-Danlos syndrome, Ehlers-Danlos syndrome due to tenascin-X deficiency	Uncertain significance (Aug 28, 2020)	criteria provided, multiple submitters, no conflicts
Select item 98500982.	NM_001365276.2(TNXB):c.5488A>C (p.Ser1830Arg) GRCh37: Chr6:32037429 GRCh38: Chr6:32069652	TNXB	S1830R	Cardiovascular phenotype, not provided, Ehlers-Danlos syndrome due to tenascin-X deficiency, Inborn genetic diseases, Ehlers-Danlos syndrome	Conflicting interpretations of pathogenicity (Mar 15, 2022)	criteria provided, conflicting interpretations
Select item 87171083.	NM_001365276.2(TNXB):c.3488G>A (p.Gly1163Glu) GRCh37: Chr6:32050061 GRCh38: Chr6:32082284	TNXB	G1163E	Ehlers-Danlos syndrome, Vesicoureteral reflux 8, not provided, Cardiovascular phenotype, Ehlers-Danlos syndrome due to tenascin-X deficiency	Uncertain significance (May 26, 2023)	criteria provided, multiple submitters, no conflicts
Select item 87170484.	NM_001365276.2(TNXB):c.8432G>A (p.Arg2811Gln) GRCh37: Chr6:32023663 GRCh38: Chr6:32055886	TNXB	R2811Q	Ehlers-Danlos syndrome, not provided, Cardiovascular phenotype, Ehlers-Danlos syndrome due to tenascin-X deficiency	Conflicting interpretations of pathogenicity (Jul 13, 2023)	criteria provided, conflicting interpretations
Select item 87170285.	NM_001365276.2(TNXB):c.9212C>T (p.Ala3071Val) GRCh37: Chr6:32018002 GRCh38: Chr6:32050225	TNXB	A3069V, A3071V	not provided, Vesicoureteral reflux 8, Ehlers-Danlos syndrome due to tenascin-X deficiency, Cardiovascular phenotype	Uncertain significance (Nov 19, 2021)	criteria provided, multiple submitters, no conflicts
Select item 82799186.	NM_001365276.2(TNXB):c.8761G>A (p.Val2921Met) GRCh37: Chr6:32021195 GRCh38: Chr6:32053418	TNXB	V2919M, V2921M	Cardiovascular phenotype, Vesicoureteral reflux 8, not provided, Vesicoureteral reflux 8, Ehlers-Danlos syndrome due to tenascin-X deficiency	Conflicting interpretations of pathogenicity (Apr 30, 2023)	criteria provided, conflicting interpretations
Select item 80990487.	NM_001365276.2(TNXB):c.4209C>T (p.Thr1403=) GRCh37: Chr6:32046976 GRCh38: Chr6:32079199	TNXB		Cardiovascular phenotype, not provided, Vesicoureteral reflux 8, Ehlers-Danlos syndrome due to tenascin-X deficiency	Likely benign (Jan 3, 2022)	criteria provided, multiple submitters, no conflicts
Select item 80990188.	NM_001365276.2(TNXB):c.6649C>A (p.Pro2217Thr) GRCh37: Chr6:32032790 GRCh38: Chr6:32065013	TNXB	P2217T	Cardiovascular phenotype, Ehlers-Danlos syndrome, not provided, Ehlers-Danlos syndrome due to tenascin-X deficiency	Conflicting interpretations of pathogenicity (May 4, 2023)	criteria provided, conflicting interpretations
Select item 80101789.	NM_001365276.2(TNXB):c.3002C>T (p.Pro1001Leu) GRCh37: Chr6:32053673 GRCh38: Chr6:32085896	TNXB	P1001L	Ehlers-Danlos syndrome due to tenascin-X deficiency, not provided	Uncertain significance (Oct 13, 2022)	criteria provided, multiple submitters, no conflicts
Select item 68944290.	NM_001365276.2(TNXB):c.10789C>T (p.Pro3597Ser) GRCh37: Chr6:32012921 GRCh38: Chr6:32045144	LOC106780803, TNXB	P26S, P3595S, P3597S	Ehlers-Danlos syndrome due to tenascin-X deficiency	Uncertain significance (Apr 8, 2019)	criteria provided, single submitter
Select item 63450991.	NM_001365276.2(TNXB):c.7126G>T (p.Gly2376Cys) GRCh37: Chr6:32029976 GRCh38: Chr6:32062199	TNXB	G2376C	Ehlers-Danlos syndrome due to tenascin-X deficiency	Uncertain significance (Jan 1, 2019)	criteria provided, single submitter
Select item 63450892.	NM_001365276.2(TNXB):c.2170C>T (p.Arg724Cys) GRCh37: Chr6:32063460 GRCh38: Chr6:32095683	TNXB	R724C	Cardiovascular phenotype, Ehlers-Danlos syndrome due to tenascin-X deficiency, Ehlers-Danlos syndrome due to tenascin-X deficiency, Vesicoureteral reflux 8, Ehlers-Danlos syndrome, not provided	Conflicting interpretations of pathogenicity (May 1, 2023)	criteria provided, conflicting interpretations
Select item 62619193.	NM_001365276.2(TNXB):c.861G>A (p.Arg287=) GRCh37: Chr6:32064769 GRCh38: Chr6:32096992	TNXB		Cardiovascular phenotype, Ehlers-Danlos syndrome due to tenascin-X deficiency, Vesicoureteral reflux 8	Conflicting interpretations of pathogenicity (Apr 7, 2023)	criteria provided, conflicting interpretations
Select item 62603794.	NM_001365276.2(TNXB):c.3212C>G (p.Thr1071Arg) GRCh37: Chr6:32052423 GRCh38: Chr6:32084646	TNXB	T1071R	Cardiovascular phenotype, Ehlers-Danlos syndrome due to tenascin-X deficiency, Vesicoureteral reflux 8	Uncertain significance (Nov 15, 2022)	criteria provided, multiple submitters, no conflicts
Select item 62603695.	NM_001365276.2(TNXB):c.5416T>C (p.Phe1806Leu) GRCh37: Chr6:32037501 GRCh38: Chr6:32069724	TNXB	F1806L	not provided, Ehlers-Danlos syndrome due to tenascin-X deficiency, Vesicoureteral reflux 8	Uncertain significance (Apr 24, 2023)	criteria provided, multiple submitters, no conflicts
Select item 62603596.	NM_001365276.2(TNXB):c.6177C>G (p.His2059Gln) GRCh37: Chr6:32036210 GRCh38: Chr6:32068433	TNXB	H2059Q	Cardiovascular phenotype, not provided, Ehlers-Danlos syndrome due to tenascin-X deficiency, Vesicoureteral reflux 8	Uncertain significance (Jul 18, 2023)	criteria provided, multiple submitters, no conflicts
Select item 62603497.	NM_001365276.2(TNXB):c.10633G>A (p.Glu3545Lys) GRCh37: Chr6:32013077 GRCh38: Chr6:32045300	LOC106780803, TNXB	E3543K, E3545K	Ehlers-Danlos syndrome due to tenascin-X deficiency, Vesicoureteral reflux 8	Uncertain significance (Mar 30, 2021)	criteria provided, single submitter
Select item 59808998.	NM_001365276.2(TNXB):c.8186A>G (p.Glu2729Gly) GRCh37: Chr6:32023909 GRCh38: Chr6:32056132	TNXB	E2729G	Cardiovascular phenotype, not provided, Ehlers-Danlos syndrome due to tenascin-X deficiency, Vesicoureteral reflux 8	Uncertain significance (Mar 24, 2023)	criteria provided, multiple submitters, no conflicts
Select item 52177299.	NM_001365276.2(TNXB):c.7856C>T (p.Pro2619Leu) GRCh37: Chr6:32024650 GRCh38: Chr6:32056873	TNXB	P2619L	Cardiovascular phenotype, Inborn genetic diseases, Ehlers-Danlos syndrome, not provided, Ehlers-Danlos syndrome due to tenascin-X deficiency	Conflicting interpretations of pathogenicity (Jun 20, 2023)	criteria provided, conflicting interpretations
Select item 430489100.	NM_001365276.2(TNXB):c.7417C>T (p.Arg2473Cys) GRCh37: Chr6:32029249 GRCh38: Chr6:32061472	TNXB	R2473C	Cardiovascular phenotype, not provided, Ehlers-Danlos syndrome due to tenascin-X deficiency, Vesicoureteral reflux 8	Benign/Likely benign (Jul 19, 2021)	criteria provided, multiple submitters, no conflicts

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