ClinVar for MedGen (Select 863268) - ClinVar - NCBI

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VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 25809901.	NM_001365276.2(TNXB):c.8326C>T (p.Arg2776Trp) GRCh37: Chr6:32023769 GRCh38: Chr6:32055992	TNXB	R2776W	Ehlers-Danlos syndrome due to tenascin-X deficiency, Vesicoureteral reflux 8	Uncertain significance (Jun 30, 2020)	criteria provided, single submitter
Select item 25001022.	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 24371753.	NM_001365276.2(TNXB):c.2409A>C (p.Ser803=) GRCh37: Chr6:32057106 GRCh38: Chr6:32089329	TNXB		Vesicoureteral reflux 8	Uncertain significance (Dec 28, 2022)	criteria provided, single submitter
Select item 24371744.	NM_001365276.2(TNXB):c.1756G>A (p.Gly586Ser) GRCh37: Chr6:32063874 GRCh38: Chr6:32096097	TNXB	G586S	Vesicoureteral reflux 8	Uncertain significance (Jan 14, 2021)	criteria provided, single submitter
Select item 24371735.	NM_001365276.2(TNXB):c.-8-2349G>A GRCh37: Chr6:32068332 GRCh38: Chr6:32100555	TNXB		Vesicoureteral reflux 8	Uncertain significance (Aug 16, 2021)	criteria provided, single submitter
Select item 24371726.	NM_001365276.2(TNXB):c.7093A>C (p.Asn2365His) GRCh37: Chr6:32030009 GRCh38: Chr6:32062232	TNXB	N2365H	Cardiovascular phenotype, Vesicoureteral reflux 8	Conflicting interpretations of pathogenicity (Mar 21, 2023)	criteria provided, conflicting interpretations
Select item 24371717.	NM_001365276.2(TNXB):c.4802A>C (p.Glu1601Ala) GRCh37: Chr6:32039955 GRCh38: Chr6:32072178	TNXB	E1601A	Vesicoureteral reflux 8	Uncertain significance (Mar 29, 2022)	criteria provided, single submitter
Select item 24371708.	NM_001365276.2(TNXB):c.12493G>A (p.Gly4165Ser) GRCh37: Chr6:32009688 GRCh38: Chr6:32041911	LOC106780803, TNXB	G4163S, G4165S, G594S	Vesicoureteral reflux 8	Uncertain significance (Dec 3, 2020)	criteria provided, single submitter
Select item 24371699.	NM_001365276.2(TNXB):c.1762A>T (p.Arg588Trp) GRCh37: Chr6:32063868 GRCh38: Chr6:32096091	TNXB	R588W	Vesicoureteral reflux 8	Uncertain significance (Sep 17, 2021)	criteria provided, single submitter
Select item 243716810.	NM_001365276.2(TNXB):c.11458C>T (p.Arg3820Cys) GRCh37: Chr6:32011598 GRCh38: Chr6:32043821	LOC106780803, TNXB	R249C, R3818C, R3820C	Vesicoureteral reflux 8	Uncertain significance (May 10, 2021)	criteria provided, single submitter
Select item 243716711.	NM_001365276.2(TNXB):c.6820G>C (p.Val2274Leu) GRCh37: Chr6:32032619 GRCh38: Chr6:32064842	TNXB	V2274L	Vesicoureteral reflux 8	Uncertain significance (Apr 28, 2021)	criteria provided, single submitter
Select item 243716612.	NM_001365276.2(TNXB):c.11422C>G (p.Arg3808Gly) GRCh37: Chr6:32011634 GRCh38: Chr6:32043857	TNXB, LOC106780803	R237G, R3806G, R3808G	Vesicoureteral reflux 8	Uncertain significance (Jun 10, 2021)	criteria provided, single submitter
Select item 243716513.	NM_001365276.2(TNXB):c.5986A>G (p.Thr1996Ala) GRCh37: Chr6:32036401 GRCh38: Chr6:32068624	TNXB	T1996A	Vesicoureteral reflux 8	Uncertain significance (Jul 23, 2021)	criteria provided, single submitter
Select item 243419414.	NM_001365276.2(TNXB):c.10291C>T (p.Arg3431Ter) GRCh37: Chr6:32015544 GRCh38: Chr6:32047767	LOC126859654, TNXB	R3429, R3431	Vesicoureteral reflux 8	Likely pathogenic (Dec 21, 2022)	criteria provided, single submitter
Select item 241279815.	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 180501116.	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 175200917.	NM_001365276.2(TNXB):c.6171C>T (p.Gly2057=) GRCh37: Chr6:32036216 GRCh38: Chr6:32068439	TNXB		Cardiovascular phenotype, Vesicoureteral reflux 8	Conflicting interpretations of pathogenicity (Jan 29, 2021)	criteria provided, conflicting interpretations
Select item 174051418.	NM_001365276.2(TNXB):c.4426C>T (p.Arg1476Cys) GRCh37: Chr6:32041679 GRCh38: Chr6:32073902	TNXB	R1476C	Vesicoureteral reflux 8, Cardiovascular phenotype	Uncertain significance (Apr 22, 2021)	criteria provided, multiple submitters, no conflicts
Select item 172999219.	NM_001365276.2(TNXB):c.3301G>A (p.Gly1101Arg) GRCh37: Chr6:32052334 GRCh38: Chr6:32084557	TNXB	G1101R	Cardiovascular phenotype, Vesicoureteral reflux 8, not provided	Uncertain significance (Jun 16, 2022)	criteria provided, multiple submitters, no conflicts
Select item 172946620.	NM_001365276.2(TNXB):c.3256G>A (p.Glu1086Lys) GRCh37: Chr6:32052379 GRCh38: Chr6:32084602	TNXB	E1086K	Vesicoureteral reflux 8, Cardiovascular phenotype	Uncertain significance (Sep 11, 2022)	criteria provided, multiple submitters, no conflicts
Select item 170231421.	NM_001365276.2(TNXB):c.1530C>T (p.Gly510=) GRCh37: Chr6:32064100 GRCh38: Chr6:32096323	TNXB		Vesicoureteral reflux 8, Ehlers-Danlos syndrome, Cardiovascular phenotype	Conflicting interpretations of pathogenicity (Dec 28, 2022)	criteria provided, conflicting interpretations
Select item 169798022.	NM_001365276.2(TNXB):c.6269C>T (p.Pro2090Leu) GRCh37: Chr6:32035713 GRCh38: Chr6:32067936	TNXB	P2090L	Vesicoureteral reflux 8, not provided	Uncertain significance (Jul 21, 2022)	criteria provided, multiple submitters, no conflicts
Select item 167601423.	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 167514324.	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 167514225.	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 167514126.	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 167514027.	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 167513928.	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 133372829.	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 133171130.	NM_001365276.2(TNXB):c.9941C>T (p.Ala3314Val) GRCh37: Chr6:32016244 GRCh38: Chr6:32048467	TNXB	A3312V, A3314V	Vesicoureteral reflux 8	Uncertain significance (Oct 22, 2021)	criteria provided, single submitter
Select item 132671131.	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 132521332.	NM_001365276.2(TNXB):c.5882_5883del (p.Val1961fs) GRCh37: Chr6:32036618-32036619 GRCh38: Chr6:32068841-32068842	TNXB	V1961fs	Vesicoureteral reflux 8	Likely pathogenic (Feb 25, 2021)	criteria provided, single submitter
Select item 132521233.	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 132521134.	NM_001365276.2(TNXB):c.1650_1651del (p.Glu552fs) GRCh37: Chr6:32063979-32063980 GRCh38: Chr6:32096202-32096203	TNXB	E552fs	Vesicoureteral reflux 8	Likely pathogenic (Jun 28, 2019)	criteria provided, single submitter
Select item 132521035.	NM_001365276.2(TNXB):c.9758-2_9758-1del GRCh37: Chr6:32016428-32016429 GRCh38: Chr6:32048651-32048652	TNXB		Vesicoureteral reflux 8	Likely pathogenic (Mar 18, 2020)	criteria provided, single submitter
Select item 132370136.	NM_001365276.2(TNXB):c.8411del (p.Leu2804fs) GRCh37: Chr6:32023684 GRCh38: Chr6:32055907	TNXB	L2804fs	Vesicoureteral reflux 8	Pathogenic (Oct 8, 2019)	criteria provided, single submitter
Select item 132370037.	NM_001365276.2(TNXB):c.7826-1G>C GRCh37: Chr6:32024681 GRCh38: Chr6:32056904	TNXB		Cardiovascular phenotype, Vesicoureteral reflux 8	Pathogenic (Sep 28, 2020)	criteria provided, multiple submitters, no conflicts
Select item 132064838.	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 130428339.	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 129021840.	NM_001365276.2(TNXB):c.8680G>A (p.Glu2894Lys) GRCh37: Chr6:32021276 GRCh38: Chr6:32053499	TNXB	E2892K, E2894K	Ehlers-Danlos syndrome, not provided, Cardiovascular phenotype, Vesicoureteral reflux 8	Conflicting interpretations of pathogenicity (Jan 13, 2021)	criteria provided, conflicting interpretations
Select item 125856841.	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 125470342.	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 125461543.	NM_001365276.2(TNXB):c.9617A>G (p.Gln3206Arg) GRCh37: Chr6:32017187 GRCh38: Chr6:32049410	TNXB	Q3204R, Q3206R	not provided, Vesicoureteral reflux 8, Cardiovascular phenotype	Conflicting interpretations of pathogenicity (Dec 9, 2022)	criteria provided, conflicting interpretations
Select item 125369144.	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 125169745.	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 123597246.	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 122683147.	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 122047248.	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 121775549.	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 121670850.	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 121580451.	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 121520852.	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 121471353.	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 121338854.	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 121175955.	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 121147356.	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 121001557.	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 120740958.	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 120703759.	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 120642660.	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 120506361.	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 120491062.	NM_001365276.2(TNXB):c.529C>T (p.Pro177Ser) GRCh37: Chr6:32065101 GRCh38: Chr6:32097324	TNXB	P177S	Cardiovascular phenotype, Vesicoureteral reflux 8, not provided	Uncertain significance (Feb 7, 2023)	criteria provided, multiple submitters, no conflicts
Select item 120406263.	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 120153564.	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 119730365.	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 119370866.	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 119103267.	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 119083968.	NM_001365276.2(TNXB):c.4413C>T (p.Ser1471=) GRCh37: Chr6:32041692 GRCh38: Chr6:32073915	TNXB		Cardiovascular phenotype, not provided, Vesicoureteral reflux 8	Conflicting interpretations of pathogenicity (Jan 5, 2021)	criteria provided, conflicting interpretations
Select item 118956769.	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 118875870.	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 118874171.	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 117937272.	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 117859573.	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 117619774.	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 105075875.	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 103281776.	NM_001365276.2(TNXB):c.5800A>C (p.Ile1934Leu) GRCh37: Chr6:32036701 GRCh38: Chr6:32068924	TNXB	I1934L	Vesicoureteral reflux 8	Uncertain significance (Sep 28, 2018)	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 93246979.	NM_001365276.2(TNXB):c.5103C>A (p.Phe1701Leu) GRCh37: Chr6:32038079 GRCh38: Chr6:32070302	TNXB	F1701L	not provided, Cardiovascular phenotype, Vesicoureteral reflux 8	Uncertain significance (Aug 1, 2023)	criteria provided, multiple submitters, no conflicts
Select item 87171080.	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 87170781.	NM_001365276.2(TNXB):c.6973G>A (p.Val2325Ile) GRCh37: Chr6:32030129 GRCh38: Chr6:32062352	TNXB	V2325I	Ehlers-Danlos syndrome, Vesicoureteral reflux 8, not provided, Cardiovascular phenotype	Uncertain significance (Mar 6, 2023)	criteria provided, multiple submitters, no conflicts
Select item 87170582.	NM_001365276.2(TNXB):c.8012C>T (p.Ala2671Val) GRCh37: Chr6:32024494 GRCh38: Chr6:32056717	TNXB	A2671V	Ehlers-Danlos syndrome, Vesicoureteral reflux 8, not provided, Cardiovascular phenotype	Conflicting interpretations of pathogenicity (Aug 9, 2023)	criteria provided, conflicting interpretations
Select item 87170283.	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 82799184.	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 80990485.	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 63450886.	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 62619187.	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 62603788.	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 62603689.	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 62603590.	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 62603491.	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 59808992.	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 54699693.	NM_001365276.2(TNXB):c.7889G>A (p.Arg2630His) GRCh37: Chr6:32024617 GRCh38: Chr6:32056840	TNXB	R2630H	not provided, Vesicoureteral reflux 8	Uncertain significance (Jun 15, 2023)	criteria provided, multiple submitters, no conflicts
Select item 43048994.	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
Select item 42698995.	NM_001365276.2(TNXB):c.2030A>G (p.Asp677Gly) GRCh37: Chr6:32063600 GRCh38: Chr6:32095823	TNXB	D677G	Ehlers-Danlos syndrome, Ehlers-Danlos syndrome due to tenascin-X deficiency, Vesicoureteral reflux 8, not provided, Cardiovascular phenotype, Ehlers-Danlos syndrome due to tenascin-X deficiency	Conflicting interpretations of pathogenicity (Oct 1, 2022)	criteria provided, conflicting interpretations
Select item 42537096.	NM_001365276.2(TNXB):c.8542G>C (p.Gly2848Arg) GRCh37: Chr6:32021414 GRCh38: Chr6:32053637	TNXB	G2846R, G2848R	Ehlers-Danlos syndrome due to tenascin-X deficiency, Vesicoureteral reflux 8, Cardiovascular phenotype, not provided	Conflicting interpretations of pathogenicity (Dec 14, 2021)	criteria provided, conflicting interpretations
Select item 28981797.	NM_001365276.2(TNXB):c.211G>T (p.Val71Leu) GRCh37: Chr6:32065765 GRCh38: Chr6:32097988	TNXB	V71L	Ehlers-Danlos syndrome due to tenascin-X deficiency, Vesicoureteral reflux 8, not provided, Cardiovascular phenotype	Uncertain significance (Sep 21, 2023)	criteria provided, multiple submitters, no conflicts
Select item 26117598.	NM_001365276.2(TNXB):c.909C>G (p.Gly303=) GRCh37: Chr6:32064721 GRCh38: Chr6:32096944	TNXB		Ehlers-Danlos syndrome due to tenascin-X deficiency, Vesicoureteral reflux 8, Cardiovascular phenotype, Ehlers-Danlos syndrome, not specified, not provided	Benign/Likely benign (Oct 6, 2021)	criteria provided, multiple submitters, no conflicts
Select item 26116299.	NM_001365276.2(TNXB):c.7553G>A (p.Gly2518Glu) GRCh37: Chr6:32026107 GRCh38: Chr6:32058330	TNXB	G2518E	Cardiovascular phenotype, Vesicoureteral reflux 8, not specified, not provided, Ehlers-Danlos syndrome due to tenascin-X deficiency	Benign (Sep 10, 2021)	criteria provided, multiple submitters, no conflicts
Select item 261159100.	NM_001365276.2(TNXB):c.7440T>C (p.Tyr2480=) GRCh37: Chr6:32029226 GRCh38: Chr6:32061449	TNXB		Cardiovascular phenotype, Vesicoureteral reflux 8, not specified, not provided, Ehlers-Danlos syndrome due to tenascin-X deficiency	Benign (Sep 10, 2021)	criteria provided, multiple submitters, no conflicts

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